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
SATL1_chrX_85087284_85248779	85088046	G G	GTATGTAT others(501): Show GTATGTATACATATATGTATAAATACGTATTAATACATATATGTATAAAT ACGTATTAATACATATATGTATAAATACGTATTAATACATATATGTATAA ATACATACATATTTATACATATATGTATACATACATATTTATACATATAT ATGTATAAATACGTACATATTTATACATATATATGTATAAATACGTACAT ATTTATACATATATATGTATAAATACGTACATATTTATACATATATATGT ATAAATACGTACATATTTATACATATATATGTATAAATACGTACATATTT ATACATATATATGTATAAATACGTACATATTTATACATATATATGTATAA ATACGTACATATTTATACATATATGTATAAATACATATACATATTTATAC ATATATGTATAAATACATATACATATTTATACATATATGTATAAATACAT ATACATATATGTATAAATACATATACATATTTATACATATATGTATAAAT ACATATACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0009 a0002c0002t0003g0009	1	232	0.0043	508	c.43 others(519): Show c.4344_*4345insTGTATATGTATTTATACATATATGTATAAATATG TATATGTATTTATACATATATGTATATGTATTTATACATATATGTATAAA TATGTATATGTATTTATACATATATGTATAAATATGTATATGTATTTATA CATATATGTATAAATATGTACGTATTTATACATATATATGTATAAATATG TACGTATTTATACATATATATGTATAAATATGTACGTATTTATACATATA TATGTATAAATATGTACGTATTTATACATATATATGTATAAATATGTACG TATTTATACATATATATGTATAAATATGTACGTATTTATACATATATATG TATAAATATGTACGTATTTATACATATATATGTATAAATATGTATGTATA CATATATGTATAAATATGTATGTATTTATACATATATGTATTAATACGTA TTTATACATATATGTATTAATACGTATTTATACATATATGTATTAATACG TATTTATACATATATGTATACATA	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding		4237		chrX	TogoVar
SCNN1D_chr1_1275436_1297025	1284171	G G	GGGGGGTT others(501): Show GGGGGGTTGGGTGAGGGGGGTGGGGTCGGGGGGGGTTGAGTGAGGGGGGT GGGGGGGTTGGGTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGGG TGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTG GGTGAGGGGTTGGGTGAGGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGG TGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTG GGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGA GTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGT GGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGG GTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGT GAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGG GTTGAGTGA	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0144 a0003c0004t0003g0144	1	290	0.0035	508	c.464 others(521): Show c.464+91_464+92insTGAGGGGGGTGGGGTCGGGGGGGGTTGAGTGA GGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTG AGGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGG GGGGTTGGGTGAGGGGTTGGGTGAGGGGGTTGGGGGGGTTGGGTGAGGGG GGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTT GGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGG GGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGA GGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGG GGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGT GTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGTGTTGGGTGAGG GGTTGGGGTTGAGTGAGGGGGTTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	4083708	T T	TCCTCCCT others(501): Show TCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCC CTTCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTCCTTTACT TCCTCCCTCCCTTCTTTACTTCCTCCCTTCTTTACTTCCTCCCTTCTTTA CTTCTTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCT CCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTA CTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCT CCCTTCTTTACTTCCTCCCTTCTTTACTTCCTCCCTTCTTTACTTCTTCC CTCCCTCCTTTACTTCCTCTCTCCCTTCTTTACTTCCTCCCTCCCTTCTT TACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCC CTTCCTTCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTCCTT TACTTGCTC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0022 a0022	a0022c0050 a0022c0050	a0022c0050t0019 a0022c0050t0019	a0022c0050t0019g0092 a0022c0050t0019g0092	1	116	0.0086	508	c.332 others(527): Show c.3324+4149_3324+4150insCTCCCTTCTTTACTTCCTCCCTCCCT TCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTCCTTTACTTC CTCCCTCCCTTCTTTACTTCCTCCCTTCTTTACTTCCTCCCTTCTTTACT TCTTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCC CTTCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACT TCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCC CTTCTTTACTTCCTCCCTTCTTTACTTCCTCCCTTCTTTACTTCTTCCCT CCCTCCTTTACTTCCTCTCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTA CTTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCT TCCTTCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTCCTTTA CTTGCTCCCTCCCTCCCTTCTTTACTTCCTCC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	22/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEL1L2_chr20_13844247_13995614	13934390	T T	TATATATA others(501): Show TATATATATATTCCATATATATATATTCCATATATATATATTCCATATAT ATATATTCCATATATATATATTCCATATATATATATTCCATATATATATA TTCCATATATATATATTCCATATATATATATTCCATATATATATATTCCA TATATATATATTCCATATATATATATTCCATATATATATATTCCATATAT ATATATTCCATATATATATATTCCATATATATATATTCCATATATATATA TTCCATATATATATATTCCATATATATATATTCCATATATATATATTCCA TATATATATATTCCATATATATATATTCCATATATATATATTCCATATAT ATATATTCCATATATATATATTCCATATATATATATTCCATATATATATA TTCCATATATATATATTCCATATATATATATTCCATATATATATATTCCA TATATATATATTCCATATATATATATTCCATATATATATATTCCATATAT ATATATTCC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0309 a0001c0004t0001g0309	1	324	0.0031	508	c.115 others(525): Show c.115-2620_115-2619insGGAATATATATATATGGAATATATATAT ATGGAATATATATATATGGAATATATATATATGGAATATATATATATGGA ATATATATATATGGAATATATATATATGGAATATATATATATGGAATATA TATATATGGAATATATATATATGGAATATATATATATGGAATATATATAT ATGGAATATATATATATGGAATATATATATATGGAATATATATATATGGA ATATATATATATGGAATATATATATATGGAATATATATATATGGAATATA TATATATGGAATATATATATATGGAATATATATATATGGAATATATATAT ATGGAATATATATATATGGAATATATATATATGGAATATATATATATGGA ATATATATATATGGAATATATATATATGGAATATATATATATGGAATATA TATATATGGAATATATATATATGGAATATATATATATGGAATATATATAT ATGGAATATATATATATGGAATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEPTIN9_chr17_77276499_77505593	77485015	G G	GCGATTGT others(501): Show GCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGG GGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGG TGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTG GTGATTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGG GGTGATGGTGATTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGGTGG TGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATT GTGATGGTGGTGATGGGGCGATGGTGGTGATTGTGATGGTGGTGAAGGGG GTGATGGTGGTGATTGTGATGGTGGTGATGGTGATGGTGGTGATTGTGGT GGTGGTGATGTGGGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATTGTGA TGGGGTGATGGTAATATGGGTGATGGTGGTGATTGTGGTGGTAGTGGTGG TGATGGTGA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0102 a0001c0001t0039g0102	1	150	0.0067	508	c.914 others(525): Show c.914-2409_914-2408insCGATTGTGGTGGTGAAGGGGGTGATGGT GATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGG GGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATG GTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGAAGGGGGTGATGGT GATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGAAGGGGG TGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTG GTGAAGGGGGTGATGGTGATTGTGATGGTGGTGATGGGGCGATGGTGGTG ATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGGTGAT GGTGATGGTGGTGATTGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATGT GGGTGGTGGTGGTGATTGTGATGGGGTGATGGTAATATGGGTGATGGTGG TGATTGTGGTGGTAGTGGTGGTGATGGTGA	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11			chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77485015	G G	GCGATTGT others(501): Show GCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGG GGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGG TGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTG GTGATTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGG GGTGATGGTGATTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGGTGG TGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATT GTGATGGTGGTGATGGGGCGATGGTGGTGATTGTGATGGTGGTGAAGGGG GTGATGGTGGTGATTGTGATGGTGGTGATGGTGATGGTGGTGATTGTGGT GGTGGTGATGTGGGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATTGTGA TGGGGTGATGGTAATATGGGTGATGGTGGTGATTGTGGTGGTAGTGGTGG TGATGGTGA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0145 a0001c0001t0049g0145	1	158	0.0063	508	c.860 others(525): Show c.860-2409_860-2408insCGATTGTGGTGGTGAAGGGGGTGATGGT GATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGG GGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATG GTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGAAGGGGGTGATGGT GATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGAAGGGGG TGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTG GTGAAGGGGGTGATGGTGATTGTGATGGTGGTGATGGGGCGATGGTGGTG ATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGGTGAT GGTGATGGTGGTGATTGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATGT GGGTGGTGGTGGTGATTGTGATGGGGTGATGGTAATATGGGTGATGGTGG TGATTGTGGTGGTAGTGGTGGTGATGGTGA	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10			chr17	TogoVar
SNX9_chr6_157818246_157950077	157827147	T T	TATAGTTT others(501): Show TATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAA ACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATA ATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAG TTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATA TATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATA TAAACATATATTATAGTTTATATAATATATAAAATATATTATAGTTTATA TAATATATAAAATATATTATAGTTTATATAATATATAAAATATATTATAG TTTATATAATATATAAAATATATTATAGTTTATATAATATATAAAATATA TTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATA CACATATATTATAGTTTATATAATATATACACATATATTATAGTTTATAT AATATATAC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	302	0.0033	508	c.12+ others(523): Show c.12+3704_12+3705insGTTTATATAATATATAAACATATATTATAG TTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATA TATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATA TAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTAT ATAATATATAAACATATATTATAGTTTATATAATATATAAACATATATTA TAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAAA TATATTATAGTTTATATAATATATAAAATATATTATAGTTTATATAATAT ATAAAATATATTATAGTTTATATAATATATAAAATATATTATAGTTTATA TAATATATAAAATATATTATAGTTTATATAATATATACACATATATTATA GTTTATATAATATATACACATATATTATAGTTTATATAATATATACACAT ATATTATAGTTTATATAATATATACATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(501): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAAGGGGAGGGGG AGGTGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGG GGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGG GGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGA GGGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGG AGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGG GAGGGGGAAGGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGGAGGGGGAAG GGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGAGGGGGA AGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGAGGGG GAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	251	0.0040	508	c.34 others(517): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCCTCCCCATCT CCCCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCC CTCCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCC CTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTC CCCCTTCCCCCTCCCCCTCCCCCTCCCCCTCCCCATCTCCCCTCCCCCGT TCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCTCCCCCTCCCCCTCCCCCT CCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCGTTCCCGCTTCCCCCTCCC CCTTCCCCCTCCCCCTCCCACCTCCCCCTCCCCTTCCCCCTCCCCCTCCC CCTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCTCCCCCTCCCCCTTCCC CCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46169781	C C	CCCCCTAC others(501): Show CCCCCTACTCTGTGAACATCCTCTGTGGATGGGGAGGAGCCTCCTGCTCT GTGAGCATCCTCGTGGATGGGGAGGAGCCCCCTGCTCTGTGAACATCCTC TGTGGATGGGGAGGAGCCTCCCTGCTCTGTGAGCATCCTCTGTGGATGGG GAGGAGCCTCCTGCTCTGTGAGCATCCTCTGTGGATGGGGAGGAGCCTCC CTGCTCTGTGAGCATCCTCTGTGGATGGGGAGGAGCCTCCTGCTCTGTGA GCATCCTCTGTGGTCCAGGAGGAGCCTCCTGCTCTGTGAACATCCTCTGT GGATGGGGAGGAGCCTCCCTGCTCTGTGAGCATCCTCTGTGGATGGGGAG GAGCCTCCTGCTCTGTGAGCATCCTCTGTGGTCCAGGAGGAGCCTCCTGC TCTGTGAACATCCTCTGTGGATGTGGAGGAGCCCCCTGCTCTGTGAGCAT CCTCTGTGGATGGGGAGGAGCCCTCTGCTCTGTGAGCATCCTCTGTGGAT GGGGAGGAG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01109.hp1 HG00323.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0151 a0001c0001t0001g0152	2	251	0.0080	508	c.194 others(525): Show c.194-1124_194-1123insCTCCTCCCCATCCACAGAGGATGCTCAC AGAGCAGAGGGCTCCTCCCCATCCACAGAGGATGCTCACAGAGCAGGGGG CTCCTCCACATCCACAGAGGATGTTCACAGAGCAGGAGGCTCCTCCTGGA CCACAGAGGATGCTCACAGAGCAGGAGGCTCCTCCCCATCCACAGAGGAT GCTCACAGAGCAGGGAGGCTCCTCCCCATCCACAGAGGATGTTCACAGAG CAGGAGGCTCCTCCTGGACCACAGAGGATGCTCACAGAGCAGGAGGCTCC TCCCCATCCACAGAGGATGCTCACAGAGCAGGGAGGCTCCTCCCCATCCA CAGAGGATGCTCACAGAGCAGGAGGCTCCTCCCCATCCACAGAGGATGCT CACAGAGCAGGGAGGCTCCTCCCCATCCACAGAGGATGTTCACAGAGCAG GGGGCTCCTCCCCATCCACGAGGATGCTCACAGAGCAGGAGGCTCCTCCC CATCCACAGAGGATGTTCACAGAGTAGGGG	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding	2/4			chr21	TogoVar
SPIRE2_chr16_89823475_89876319	89852377	C C	CCCATATT others(501): Show CCCATATTCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCA TGGCCCATCTTCCATCCTCTCCCCACCCACCAGATCCCATGGCCCATCTT CCATCCTCCCCCCACCCCCCAGATCCCCTGGCCCATCTTCCATCCTCCCC CCACCCCCCATATTCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAG ATCCCATGGCCCATCTTCCATCCTCTCCCCACCCACCAGATCCCATGGCC CATCTTCCATCCTCCCCCCACCCCCCAGATCCCCTGGCCCATCTTCCATC CTCCCTCTCACCCCCCATATTCCATGGCCCATCTTCCATCCTCCCCCCAC CCCCCGGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCGGATCC CACGGCCCATCTTCCATCCTCCCCCCACCCACCAGATCCCATGGCCCATC TTCCATCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCT CCCCACCCA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0001 a0001c0021t0001	a0001c0021t0001g0065 a0001c0021t0001g0065	1	356	0.0028	508	c.645 others(525): Show c.645+1720_645+1721insTATTCCATGGCCCATCTTCCATCCTCCC CCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCTCCCCACCCACCA GATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCCTGGC CCATCTTCCATCCTCCCCCCACCCCCCATATTCCATGGCCCATCTTCCAT CCTCCCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCTCCCCAC CCACCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCC CCTGGCCCATCTTCCATCCTCCCTCTCACCCCCCATATTCCATGGCCCAT CTTCCATCCTCCCCCCACCCCCCGGATCCCATGGCCCATCTTCCATCCTC CCCCCACCCCCCGGATCCCACGGCCCATCTTCCATCCTCCCCCCACCCAC CAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCATG GCCCATCTTCCATCCTCTCCCCACCCACCA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77016172	C C	CTCTATCT others(501): Show CTCTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCT GTGTCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGT GTCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTAT CTCCTCCCCCTCATCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTGTCT CCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCATCCTCCTGTATCTCC TCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTC CCCCTCCTCCTCCTGTATCTCCTCCCCCTCATCCTCCTGTATCTCCTCCC CCTCCTCCTCCTGTGTCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCC TCATCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTC CTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCT CCTCCTGTA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	202	0.0050	508	c.262 others(527): Show c.262-28031_262-28030insCTATCTCCTCCCCCTCCTCCTCCTGT ATCTCCTCCCCCTCCTCCTCCTGTGTCTCCTCCCCCTCCTCCTCCTGTAT CTCCTCCCCCTCCTCCTCCTGTGTCTCCTCCCCCTCCTCCTCCTGTATCT CCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCATCCTCCTGTATCTCC TCCCCCTCCTCCTCCTGTGTCTCCTCCCCCTCCTCCTCCTGTATCTCCTC CCCCTCATCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCC CCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCC TCATCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTGTCTCCTCCCCCTC CTCCTCCTGTATCTCCTCCCCCTCATCCTCCTGTATCTCCTCCCCCTCCT CCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCC TCCTGTATCTCCTCCCCCTCCTCCTCCTGTAT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
STAB2_chr12_103582273_103771719	103768604	G G	GGGGAGGG others(501): Show GGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTA GGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGGACA GGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGACAGGGAGAGGGAGA GAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGAGAGGGGGGAGAGA GAGGGAGGGGGCGGGAGGGGAGGGAGGGGGAGGGAGAGGGACAGGGAGAG GGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAG GGAGGGAGAGGGAGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGAGATGGG GGAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGGAGAG GGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGAGAGAG AGGGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAGAGAGAG GGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0014 a0014	a0014c0025 a0014c0025	a0014c0025t0002 a0014c0025t0002	a0014c0025t0002g0032 a0014c0025t0002g0032	1	256	0.0039	508	c.22 others(519): Show c.2268_*2269insGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAG GGAGAGGGAGGGGTAGGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGG GGAGGGAGAGGGACAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGG ACAGGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGG GAGAGGGGGGAGAGAGAGGGAGGGGGCGGGAGGGGAGGGAGGGGGAGGGA GAGGGACAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGG GAGAGGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGAGGGAGGGAGGGGGG AGGGAGAGAGATGGGGGAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGG ATGGGGGAGGGAGAGGGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGA GGGAGAGGGAGAGAGAGGGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGA GAGAGGGAGAGAGAGGGAGAGAGA	STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding		1886		chr12	TogoVar
STAB2_chr12_103582273_103771719	103768604	G G	GGGGAGGG others(501): Show GGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTA GGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGGACA GGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGACAGGGAGAGGGAGA GAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGGAGAGGGAGGGGAG GGGGAGAGGGGGGAGAGAGAGGGAGGGGGCGGGAGGGGAGGGAGAGGGAC AGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGGGAGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGAGATGGG GGAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGGAGAG GGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGAGAGAG AGGGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAGAGAGAG GGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0013 a0013	a0013c0134 a0013c0134	a0013c0134t0001 a0013c0134t0001	a0013c0134t0001g0036 a0013c0134t0001g0036	1	256	0.0039	508	c.22 others(519): Show c.2268_*2269insGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAG GGAGAGGGAGGGGTAGGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGG GGAGGGAGAGGGACAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGG ACAGGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGG GGAGAGGGAGGGGAGGGGGAGAGGGGGGAGAGAGAGGGAGGGGGCGGGAG GGGAGGGAGAGGGACAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGGGGGG AGGGAGAGAGATGGGGGAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGG ATGGGGGAGGGAGAGGGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGA GGGAGAGGGAGAGAGAGGGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGA GAGAGGGAGAGAGAGGGAGAGAGA	STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding		1886		chr12	TogoVar
STAB2_chr12_103582273_103771719	103768604	G G	GGGGAGGG others(501): Show GGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTA GGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGGACA GGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGACAGGGAGAGGGAGA GAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGGAGAGGGAGGGGAG GGGGAGAGGGGGGAGAGAGAGGGAGGGGGCGGGAGGGGAGGGAGAGGGAC AGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGGGGGGAGGGA GAGAGATGGGGGAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGG GGAGGGAGAGGGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAG AGGGAGAGAGAGGGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAG GGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0001 a0001c0033t0001	a0001c0033t0001g0186 a0001c0033t0001g0186	1	256	0.0039	508	c.22 others(519): Show c.2268_*2269insGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAG GGAGAGGGAGGGGTAGGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGG GGAGGGAGAGGGACAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGG ACAGGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGG GGAGAGGGAGGGGAGGGGGAGAGGGGGGAGAGAGAGGGAGGGGGCGGGAG GGGAGGGAGAGGGACAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGA GAGGGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGGGAGAGGGAGAGGGA GGGAGGGGGGAGGGAGAGAGATGGGGGAGGGGGAGGGAGAGGGATGGGGG AGGGAGAGGGATGGGGGAGGGAGAGGGACAGGGGGAGGGAGAAGGAGAGG GAGAGGGGGAGGGAGAGGGAGAGAGAGGGAGAGGGAGAGAGAGGGAAAGG GAGTGAGAGAGAGAGGGAGAGAGA	STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding		1886		chr12	TogoVar
SUFU_chr10_102498972_102638535	102637656	G G	GATTATAA others(501): Show GATTATAAAATATAATTATATATTATATATGATTATAAAATATAATTATA TATTATATATGATTATAAAATATAATTATATATTATATATGATTATAAAA TATAATTATATATTATATATGATTATAAAATATAATTATATATGATTATA AAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAAT ATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAA TTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTAT ATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATAT GATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATT ATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAA AATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATA TAATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0263 a0001c0001t0006g0263	1	268	0.0037	508	c.75 others(519): Show c.7501_*7502insATTATAAAATATAATTATATATTATATATGATTA TAAAATATAATTATATATTATATATGATTATAAAATATAATTATATATTA TATATGATTATAAAATATAATTATATATTATATATGATTATAAAATATAA TTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTAT ATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATAT GATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATT ATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAA AATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATA TAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAAT TATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATA TATGATTATAAAATATAATTATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4122		chr10	TogoVar
SUMF1_chr3_4356146_4472269	4456822	G G	GTATATAT others(501): Show GTATATATACGTGTATATATATACGTGTGTGTGTATATATACGTGTATAT ATATACGTGTATATATACACGTGTATATATATACGTGTGTGTATATATAC ACGTGTATATATATACGTGTGTGTATATATACACGTGTATATATATACGT GTGTGTATATATACACGTGTATATATATACGTGTGTGTATATATACACGT GTATATATATACACGTGTGTATATATACACGTGTATATATATACGTGTGT GTATATATACACGTGTATATATATACGTGTGTGTATATATACACGTGTAT ATATATACGTGTGTGTATATATACACGTGTATATATATACGTGTGTGTAT ATATACACGTGTATATATATACACGTGTGTATATATACACGTGTATATAT ATACACGTGTGTATATATACACGTGTATATATATACGTGTGTGTATATAT ACACGTGTATATATATACGTGTGTGTATATATACACGTGTATATATATAC GTGTGTGTA	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0255 a0001c0002t0001g0255	1	392	0.0026	508	c.271 others(525): Show c.271-3774_271-3773insTACACACACGTATATATATACACGTGTA TATATACACACACGTATATATATACACGTGTATATATACACACACGTATA TATATACACGTGTATATATACACACGTGTATATATATACACGTGTATATA TACACACGTGTATATATATACACGTGTATATATACACACACGTATATATA TACACGTGTATATATACACACACGTATATATATACACGTGTATATATACA CACACGTATATATATACACGTGTATATATACACACACGTATATATATACA CGTGTATATATACACACGTGTATATATATACACGTGTATATATACACACA CGTATATATATACACGTGTATATATACACACACGTATATATATACACGTG TATATATACACACACGTATATATATACACGTGTATATATACACACACGTA TATATATACACGTGTATATATACACGTATATATATACACGTATATATACA CACACACGTATATATATACACGTATATATA	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
SYTL3_chr6_158645054_158769871	158701175	G G	GGTGAGCT others(501): Show GGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGG AGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAA GGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATG AAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGA TGAAGGGCTGTCTGGGGGAGGAGCCGTGGGAAGAGGGTCATGGAGGAGTG TGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAG TGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGG AGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAA GGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATG AAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGA TGAAGGAGT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0095 a0004c0003t0001g0095	1	292	0.0034	508	c.395 others(525): Show c.395-5850_395-5849insGCTGTCTGGGGGAGGAGCCGTGGGAAGA GGGTCATGGAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGG GGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCT GGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAG CTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTG AGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTG TGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAG TGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGG AGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAA GGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATG AAGGAGTGTGAGCTGGGGTGTAGATGAAGG	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
TBC1D22A_chr22_46757650_47180693	47128195	T T	TCCCTCCA others(501): Show TCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCTCACCCATCCCCC ATCCTCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCCATC CCCCATCCTCCCTCCACCCCACCCATCCTCCCCTCTGCCCCACCCATCCC CCCTCCCCTCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCGCC CTACCCATCCTCCTCCGCCCCACCCACCCCCCCTCCGCCCCACCCATCCC CCCTCCCCTCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCCCC CCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCTCCGCCCCACCCACC ACCCCTCCGCCCCACCCACCACCCCTCCGCCCCACCCATCCCCCCTCCCC TCACCCATCCCTCCATCCTCCCTCCACCCCACCCATTCTCCCCTCCACCC CACCCATTCTCCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCA CCCATCCTC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	112	0.0089	508	c.142 others(529): Show c.1425+16598_1425+16599insACCCCACCCATCCCCCATCCTCCC TCCACCTCACCCATCCCCCATCCTCCCTCCACCCCACCCATCCCCCATCC TCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCCATCCTCC CCTCTGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCCTCCGCCCC ACCCATCCCTCCCTCCGCCCTACCCATCCTCCTCCGCCCCACCCACCCCC CCTCCGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCCTCCGCCCC ACCCATCCCTCCCTCCCCCCCACCCATCCCTCCCTCCGCCCCACCCATCC CTCCTCCGCCCCACCCACCACCCCTCCGCCCCACCCACCACCCCTCCGCC CCACCCATCCCCCCTCCCCTCACCCATCCCTCCATCCTCCCTCCACCCCA CCCATTCTCCCCTCCACCCCACCCATTCTCCCCTCCACCCCACCCATCCC CCATCCTCCCTCCACCCCACCCATCCTCCCCTCC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TMEM163_chr2_134450759_134724000	134608420	A A	AAGGAGGA others(501): Show AAGGAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAG AACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGG ACAGACCCCGAGAACTGTACTGGTGAAAAGGAGGACAGACCCCGAGAACT GTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAG ACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGG TGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGAGTACAGACCC CGAGAACTTTGCTGGTGAAAAGGACAGACCCCGAGAACTTTGCTGGTGAA AAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAAC TGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGAGG ACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTG CTGGTGAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0217 a0001c0001t0014g0217	1	222	0.0045	508	c.323 others(527): Show c.323-56330_323-56329insTTTCACCAGCACAGTTCTCGGGGTCT GTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTCCTTTTCACCAGCA CAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCC TTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCAAAGTTCT CGGGGTCTGTCCTTTTCACCAGCAAAGTTCTCGGGGTCTGTACTCCTTTT CACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGG GTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGC ACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTC CTCCTTTTCACCAGTACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAG TTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTT TCACCAGCACAGTTCTCGGGGTCTGTCCTCCT	TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	2/7			chr2	TogoVar
TMEM163_chr2_134450759_134724000	134609315	G G	GACAGACC others(501): Show GACAGACCCCGAGAACTGTACTGGTGAAAAGGAGGACAGACCCCTAGAAC TGTACTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACA GACCCCGAGAACTGTGCTGGTGAAAAGGAGGACAGACCCCGAGAACTGTG CTGGTGAAAAGGAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAG ACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTACTGG TGAAAAGGATGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCC CGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAA AAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAAC TGTGCTGGTGAAAAGGAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGG ACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTG CTGGTGAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02572.hp2 HG02055.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0152 a0001c0001t0012g0148 a0001c0001t0001g0152 a0001c0001t0012g0148	2	222	0.0090	508	c.323 others(527): Show c.323-57225_323-57224insTTTCACCAGCACAGTTCTCGGGGTCT GTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAG TTCTCGGGGTCTGTCCTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCC TTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCT CGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCAC CAGCACAGTTCTCGGGGTCTGTCATCCTTTTCACCAGTACAGTTCTCGGG GTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGC ACAGTTCTCGGGGTCTGTCCTCCTTTTCACCAGCACAGTTCTCGGGGTCT GTCCTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCA CAGTTCTCGGGGTCTGTCCTTTTCACCAGTACAGTTCTAGGGGTCTGTCC TCCTTTTCACCAGTACAGTTCTCGGGGTCTGT	TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	2/7			chr2	TogoVar
TP53AIP1_chr11_128930370_128947871	128930666	C C	CAGGGGTT others(501): Show CAGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGG GTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTT AGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGA GACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGC CGGGGTTAGGGAGGCCGGGGTTAGAGAGGCCGGGGTTAGGGAGACCAAGG GTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTA GGGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGG AGGCCGGGGTTAGGGAGGCCGGGGTTAGAGAGGCCAGGGGTTAGGGAGGC CAGGGTAGGGAGGCTGGGGGTTAGGAAGGCCGGGGTTAGGGAGACCAAGG GTCAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTA GAGAGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0035 a0001c0001t0004g0035	1	466	0.0022	508	c.49 others(519): Show c.4924_*4925insTGGCCTCTCTAACCCCGGCCTCCCTAACCCCGGC CTCCCTAACCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTT CCTAACCCCCAGCCTCCCTACCCTGGCCTCCCTAACCCCTGGCCTCTCTA ACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCC TTGGTCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGC CTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTC TCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAA TCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCCCTAACCC CGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGGC CTCCCTGACCCTTGGTCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCC CTAACCCCAGCCTCCCTAACCCCT	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4703		chr11	TogoVar
TPK1_chr7_144446941_144841053	144780581	T T	TTATATTA others(501): Show TTATATTATATAGTATATAATATAGTATATTATATTATATAGTATATAAT ATAGTATATTATATTATATAGTATATAATATAGTATATTATATTATATAG TATATAATATAGTATATTATATTATATAGTATATAATATAGTATATTATA TTATATAGTATATAATATAGTATATTATATTATATAGTATAGTATATTAT ATAGTATAGTATATTATATTATATAGTATAGTATATTATATTATATAGTA TATAATATAGTATATTATATTATATAGTATATAATATAGTATATTATATT ATATAGTATATAATATAGTATATTATATTATATAGTATATAATATAGTAT ATTATATTATATAGTATATAATATAGTATATTATATTATATAGTATATAA TATAGTATATTATATTATATAGTATATAATATAGTATATTATATTATATA GTATATAATATAGTATATTATATTATATAGTATATAATATAGTATATTAT ATTATATAG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	118	0.0085	508	c.44- others(525): Show c.44-14631_44-14630insCTATATAATATAATATACTATATTATAT ACTATATAATATAATATACTATATTATATACTATATAATATAATATACTA TATTATATACTATATAATATAATATACTATATTATATACTATATAATATA ATATACTATATTATATACTATATAATATAATATACTATATTATATACTAT ATAATATAATATACTATATTATATACTATATAATATAATATACTATATTA TATACTATATAATATAATATACTATATTATATACTATATAATATAATATA CTATACTATATAATATAATATACTATACTATATAATATACTATACTATAT AATATAATATACTATATTATATACTATATAATATAATATACTATATTATA TACTATATAATATAATATACTATATTATATACTATATAATATAATATACT ATATTATATACTATATAATATAATATACTATATTATATACTATATAATAT AATATACTATATTATATACTATATAATATA	TPK1	ENSG00000196511.15	transcript	ENST00000360057.7	protein_coding	2/8			chr7	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(501): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCCCTTCCTCCGTCCCCCTTCCTCC CTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCC CCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCT TCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCC CCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTA TCCCTCCTCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCCCT TCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCC TTTCCTTTC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0132 a0001c0002t0002g0132	1	334	0.0030	508	c.657 others(523): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCCTTCCTC CGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTT CCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCC CCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCT CCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCACCCT TCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCC CTTCCTCCCTCCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TWIST2_chr2_238843085_238915534	238870633	C C	CTACACAC others(501): Show CTACACACACCACACCCCACACACACCACACCCCATACACACCACACCCC ACACACACCACACACCCCACACACACCACACCCCACACACACCACACCCC ACACACACCACACCCCACACACACCACACCCCACACACACCCCACACACA CCACACACCCCACACACACCACACACCCCACACACACCACACCCCACACA CACCACACCCCACACACACCACACCCCACACACACCACACCCCACACACA CCCCACACACACCACACACCCCACACACACCACACACCCCACACACACCA CACCCCACACACACCACACCCCACACACACCACACCCCACACACACCACA CACCCCACACACACCACACCCTACACACACCACACCCCACACACACCACA CCCCATACACACCACACCCCACACACACCACACACCCCACACACACCACA CCCCACACACACCACACCCCACACACACCACACCCCACACACACCACACC CCACACACA	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	338	0.0030	508	c.35 others(527): Show c.35+21900_*35+21901insTACACACACCACACCCCACACACACC ACACCCCATACACACCACACCCCACACACACCACACACCCCACACACACC ACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCAC ACCCCACACACACCCCACACACACCACACACCCCACACACACCACACACC CCACACACACCACACCCCACACACACCACACCCCACACACACCACACCCC ACACACACCACACCCCACACACACCCCACACACACCACACACCCCACACA CACCACACACCCCACACACACCACACCCCACACACACCACACCCCACACA CACCACACCCCACACACACCACACACCCCACACACACCACACCCTACACA CACCACACCCCACACACACCACACCCCATACACACCACACCCCACACACA CCACACACCCCACACACACCACACCCCACACACACCACACCCCACACACA CCACACCCCACACACACCACACCCCACACACA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
VCX3B_chrX_8459830_8471510	8466927	A A	AGGTGTGT others(501): Show AGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGA GGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTG TGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGG GGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGA GGTGGTGTGTGGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTG TGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGG AGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGAGGTGGTGTGT GGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGA GGAAGCGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0002 a0006c0007t0002	a0006c0007t0002g0003 a0006c0007t0002g0003	1	271	0.0037	508	c.54 others(517): Show c.544_*545insGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGT GGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGA GGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTG GGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAG AGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAG GGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGGGGAAGAGGTGGTGT GTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGG AAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGG GAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGG AGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGGAGGAAGCGGT	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		418		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8467389	A A	AATAGGTG others(501): Show AATAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGG GAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGG AAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGG GAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAG GTGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGAGGAGGT GTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGA AGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGAGGAGGTGTGTGGGGAGGG AGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGG GAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0004 a0003c0003t0003g0004	1	271	0.0037	508	c.10 others(519): Show c.1006_*1007insATAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGA GGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGT GGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGG AGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGA GGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTG TGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GGAGGGAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTG GGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGAGGA GGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAA GAGGAGGTGTGTGGGGAGGGAGGG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		880		chrX	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(501): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCTCCTCCCCCTCCCCTCTCCTCCTCTC CCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCCCTCC TCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCC CCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTCC TCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCC TCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCC TCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCC CTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCC CTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCC TTCCCCCTC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0136 a0002c0002t0001g0136	1	246	0.0041	508	c.53- others(521): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCTCCTCCCCCTCCCCTCTCCT CCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCC CCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCC CCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCCTCTCC CCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCC TCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTC TCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCT CTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCT CTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCC CCTCCCTTCCCCCTCCCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
YBEY_chr21_46281342_46302751	46293105	C C	CGGTTAGC others(501): Show CGGTTAGCCTGACCCATGCCCGGGACTCAGTGGGGACAGCCACACAAGTT AGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGAC TCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCG GTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAA ACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTC AGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTCCTCCCGTGGTTAGCC TGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAG ATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGG ACAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCGTGCCCCGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGAT TCCTCCCGT	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	404	0.0025	508	c.339 others(525): Show c.339+1657_339+1658insATGCCCGGGACTCAGTGGGGACAGCCAC ACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGC CCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGC AAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCC GGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTCCTCCCGTG GTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAA ACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTC AGTGGGGACAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGT TAGCCTGACCCGTGCCCCGGACTCAGTGGAGTCAGCCACGCAAGTTAAAC TCTAGATTCCTCCCGTGGTTAGCCTGACCC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
ZNF365_chr10_62369369_62407450	62370753	T T	TATATACC others(501): Show TATATACCATATATATAATATATATCATATAAATCATATATATCATATAC ATTCATATACATCATATACATCATATACATCATATATGATATATACATCA TATATCACACATATGATATATACATCATATATCACACATATGATATACAT CATATATCACACATATGATATACATCATATATCACACATATGATATACAT CATATATCACACATATGATATACATCATATATCACACATATGATATACAT CATATATCACACATATGATATACATCATATATCACACATATGATATACAT CATATATCACACATATGATATACATCATATATCACACATATGATATACAT CATATATCACACATATGATATATATCATATATCACACATATGATATATAT CATATATCACACATATGATATATATCATATATCACACATATGATATATAT CATACATATCACATATATCATATATATCATACATATCACATATATCATAT ATATCATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	350	0.0029	508	c.-37 others(519): Show c.-3719_-3718insATATACCATATATATAATATATATCATATAAATC ATATATATCATATACATTCATATACATCATATACATCATATACATCATAT ATGATATATACATCATATATCACACATATGATATATACATCATATATCAC ACATATGATATACATCATATATCACACATATGATATACATCATATATCAC ACATATGATATACATCATATATCACACATATGATATACATCATATATCAC ACATATGATATACATCATATATCACACATATGATATACATCATATATCAC ACATATGATATACATCATATATCACACATATGATATACATCATATATCAC ACATATGATATACATCATATATCACACATATGATATATATCATATATCAC ACATATGATATATATCATATATCACACATATGATATATATCATATATCAC ACATATGATATATATCATACATATCACATATATCATATATATCATACATA TCACATATATCATATATATCATAC	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3615		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370969	G G	GATATATA others(501): Show GATATATATCATATGTGATATATATTGTATATATGATATATATCATATAT ATCATATGTGATATATATGATACATATGACATATATCATATGTGATACAT ATGACATATATCATATGTGATACATATGACATATATCATATGTGATACAT ATGACATATATCATATGTGATACATATGACATATATCATATGTGATATAT GTCACATATATCATATGTGATATATGTCACATATATCATATGTGATATAT GTCACATATATCATATGTGATATATGTCACATATATCATATGTGATATAT GTCACATATATCATATATATGATATATATCACATATATCATATATATGAT ATATATCATATATATCATATATATGATATATATCATATATATCATATATA TGATATATATCACATATCATATATATGATATATATCACATATATATATCA TATATATCACATATATATGATATATATCATATATATATCATATATATGAT ATATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	350	0.0029	508	c.-35 others(519): Show c.-3503_-3502insATATATATCATATGTGATATATATTGTATATATG ATATATATCATATATATCATATGTGATATATATGATACATATGACATATA TCATATGTGATACATATGACATATATCATATGTGATACATATGACATATA TCATATGTGATACATATGACATATATCATATGTGATACATATGACATATA TCATATGTGATATATGTCACATATATCATATGTGATATATGTCACATATA TCATATGTGATATATGTCACATATATCATATGTGATATATGTCACATATA TCATATGTGATATATGTCACATATATCATATATATGATATATATCACATA TATCATATATATGATATATATCATATATATCATATATATGATATATATCA TATATATCATATATATGATATATATCACATATCATATATATGATATATAT CACATATATATATCATATATATCACATATATATGATATATATCATATATA TATCATATATATGATATATATCAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3399		chr10	TogoVar
ABCC6_chr16_16144565_16228494	16172047	A A	AGTGGGAT others(502): Show AGTGGGATGGATAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGAT GGATAAATGAATGGGTGGGATGCATAAATGAGTGAGTGGGATGGATAAAT GGGTGGGTGGGATGGATAAATGAGTGGGTGGGATGCATAAATGAGTGAGT GGGATGGATAAATGGGTGGGTGGGATGGATAAATGAGTGGGTGGGATGGA TAAATGAGTGGGTGGGATGCATAAATGAGTGGGTGGGATGCATAAATGAG GTGGGATGGATAAATGAGTGGGTGGGATAGATAAATGAGGGGGTGGGATG GATAAATGAGGGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGATA AATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGAGTG GGTGGGATGGCTAAATGAGTGGGTGGGATGGATGGATAAATGAGTGGGTG GGATGGATAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGATGGAT AAATGAGTGG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02683.hp2 HG03710.hp1 HG01106.hp1 HG02683.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0086 a0001c0001t0001g0201 a0001c0001t0001g0202	3	357	0.0084	509	c.278 others(528): Show c.2787+1236_2787+1237insCCACTCATTTATCCATCCCACCCACT CATTTATCCATCCCACCCACTCATTTATCCATCCCACCCACTCATTTATC CATCCATCCCACCCACTCATTTAGCCATCCCACCCACTCATTTAGCCATC CCACCCACCCATTTATCCATCCCACCCACTCATTTATCCATCCCACCCAC TCATTTATCCATCCATCCCACCCCCTCATTTATCCATCCCACCCCCTCAT TTATCTATCCCACCCACTCATTTATCCATCCCACCTCATTTATGCATCCC ACCCACTCATTTATGCATCCCACCCACTCATTTATCCATCCCACCCACTC ATTTATCCATCCCACCCACCCATTTATCCATCCCACTCACTCATTTATGC ATCCCACCCACTCATTTATCCATCCCACCCACCCATTTATCCATCCCACT CACTCATTTATGCATCCCACCCATTCATTTATCCATCCCACCCACTCATT TAGCCATCCCACCCACTCATTTATCCATCCCAC	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ABR_chr17_998519_1184981	1065184	T T	TTATGTGA others(502): Show TTATGTGAACTGAGGGCTATGCATGTTGCTCTAGACACTGTTGTTACGTG AACTGAGGGCTATGCATGTTCCTCTAGATGCTGCTGTTATGTGAACTGAG GGCTATGCATGTTCCTCTAGACACTGTTGTTATGTGAACTGAGGGCTATG CATGTTCCTCCAGACACTGTTGTTATGTGAACTGAGGGCTATGCATGTTC CTCTAGACACTGCTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGA CACTGTTGTTACGTGAACTGAGGGCTATGCATGTTCCTCTAGCACTGCTG TTACGTGAACTGAGGGCTATGCATGTTCCTCCAGACACTGTTGTTATGTG AACTGAGGGCTATGCATGTTCCTCTAGACACTGTTGTTATGTGAACTGAG GGCTATGCATGTTCCTCTAGACACTGTTATGTGAACTGAGGGTTATGCAT GTTCCTCTAGACACTGTTGTTACGTGAAGTGAGGGCTATACATGTTCCTC TAGACACTGC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0250 a0001c0001t0004g0250	1	337	0.0030	509	c.118 others(528): Show c.1182+1892_1182+1893insGCAGTGTCTAGAGGAACATGTATAGC CCTCACTTCACGTAACAACAGTGTCTAGAGGAACATGCATAACCCTCAGT TCACATAACAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCACATAACA ACAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCACATAACAACAGTGT CTGGAGGAACATGCATAGCCCTCAGTTCACGTAACAGCAGTGCTAGAGGA ACATGCATAGCCCTCAGTTCACGTAACAACAGTGTCTAGAGGAACATGCA TAGCCCTCAGTTCACATAACAGCAGTGTCTAGAGGAACATGCATAGCCCT CAGTTCACATAACAACAGTGTCTGGAGGAACATGCATAGCCCTCAGTTCA CATAACAACAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCACATAACA GCAGCATCTAGAGGAACATGCATAGCCCTCAGTTCACGTAACAACAGTGT CTAGAGCAACATGCATAGCCCTCAGTTCACATA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	10/22			chr17	TogoVar
ABR_chr17_998519_1184981	1164351	T T	TAGGTAGG others(502): Show TAGGTAGGACGGACCCTGGCAAAGTGTCACACACAGCACTGAATCCAGAC GCAGGGACCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGA GCATCCAGGTGGGACCCTGGCAAAGTGTCACACACAGCACTGAATCCAGA CGCAGGGACCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGG AGCATCTAGGTGGGACCCTGGCAAAGTGTCACACACAGCACTGAATCCAG ACGCAGGGACCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCG GAGCATCCAGGTGGGACCCTGGCAAAGTGTCACACACAGCACTGAATCCA GACGCAGGGACCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTC GGAGCATCTAGGTGGGACCCTGGCAAAGTGTCACACACAGCACTGAATCC AGACGCAGGGACCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGT CGGAGCATCC	intron_variant intron_variant	MODIFIER	HG01433.hp1 NA20300.hp1 HG01433.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0012 a0001c0001t0001 a0001c0003t0012	a0001c0001t0001g0083 a0001c0003t0012g0119 a0001c0001t0001g0083 a0001c0003t0012g0119	2	337	0.0059	509	c.61+ others(526): Show c.61+15315_61+15316insGGATGCTCCGACATCCATGTTCACTGGG CGTCTTGCAGTTTATCTGGGGTCCCTGCGTCTGGATTCAGTGCTGTGTGT GACACTTTGCCAGGGTCCCACCTAGATGCTCCGACATCCATGTTCACTGG GCGTCTTGCAGTTTATCTGGGGTCCCTGCGTCTGGATTCAGTGCTGTGTG TGACACTTTGCCAGGGTCCCACCTGGATGCTCCGACATCCATGTTCACTG GGCGTCTTGCAGTTTATCTGGGGTCCCTGCGTCTGGATTCAGTGCTGTGT GTGACACTTTGCCAGGGTCCCACCTAGATGCTCCGACATCCATGTTCACT GGGCGTCTTGCAGTTTATCTGGGGTCCCTGCGTCTGGATTCAGTGCTGTG TGTGACACTTTGCCAGGGTCCCACCTGGATGCTCCGACATCCATGTTCAC TGGGCGTCTTGCAGTTTATCTGGGGTCCCTGCGTCTGGATTCAGTGCTGT GTGTGACACTTTGCCAGGGTCCGTCCTACCT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ADAMTS16_chr5_5135330_5325304	5305067	A A	ACACACAC others(502): Show ACACACACATCCCACACCACACACACACATCCACACCACACACACACACA TCCCACACCACACACACACAATCCCACACCACACACACAATCCCACACCA CACACACACATCCCACACCACACACACACATCCCACACCACACACACACA CATCCCACACCACACACACACACACCCCACACCACACACACACATCCACA CCACACACACACACATCCCACACCACACACAAATCCCACACCACACACAC AATCCCACACCACACACACACACATCCCACACCACACACAACCCACGCCA CACACACACATCCCACACCCATCCCACGCCACACACATCCACACCACACA CACATCCCACACCACACACACACACACACACATCCCATACCACACACACA CATCCCACACCACACACATCCCACACCACACACACATCCCACACCACACA CACACATCCCACACCACACACACACACATCCCACACCACACATACACACA CATCCCACAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0009 a0009	a0009c0039 a0009c0039	a0009c0039t0015 a0009c0039t0015	a0009c0039t0015g0099 a0009c0039t0015g0099	1	332	0.0030	509	c.318 others(528): Show c.3186+1309_3186+1310insTCCCACACCACACACACACATCCACA CCACACACACACACATCCCACACCACACACACACAATCCCACACCACACA CACAATCCCACACCACACACACACATCCCACACCACACACACACATCCCA CACCACACACACACACATCCCACACCACACACACACACACCCCACACCAC ACACACACATCCACACCACACACACACACATCCCACACCACACACAAATC CCACACCACACACACAATCCCACACCACACACACACACATCCCACACCAC ACACAACCCACGCCACACACACACATCCCACACCCATCCCACGCCACACA CATCCACACCACACACACATCCCACACCACACACACACACACACACATCC CATACCACACACACACATCCCACACCACACACATCCCACACCACACACAC ATCCCACACCACACACACACATCCCACACCACACACACACACATCCCACA CCACACATACACACACATCCCACACCACACACA	ADAMTS16	ENSG00000145536.15	transcript	ENST00000274181.7	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
AK3_chr9_4704556_4746202	4714125	T T	TACGCCTA others(502): Show TACGCCTACACATATATGCCTACACATATACGCCTACACATATACGCCTA CACATATACGCCTACACATATACACCTCCACATATACACACCTCCACATA TACACACCTCCACATATACACACCTCCACATATATGCCTACACATATACG CCTACACATATACGCCTACACATATACACACCTCCACATATACACACCTC CACAACTCCACATATACACACCTCCACATATACACACCTACACATATACG CCTACACATATACGCCTACACATATACGCCTACACATATACACACCTCCA CATATACACACCTCCACATATACGCCTACACATATACGCCTACACATATA CACACCTCCACATATACACACCTCCACATATACGCCTACACATATACGCC TACACATATACGCCTACACATATACGCCTACACATATACACACCTCCACA TATACACACCTCCACATAATACACCTACACATATACACACCTACACATAT ACACCTACAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01884.hp2 HG02965.hp2 others(1): Show HG00741.hp2 HG01884.hp2 HG02965.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0005 a0001c0001t0006g0015 a0001c0001t0006g0218 a0001c0001t0006g0005 a0001c0001t0006g0015 a0001c0001t0006g0218	4	462	0.0087	509	c.564 others(526): Show c.564-1030_564-1029insGTGTAGGTGTATATGTGTAGGTGTGTAT ATGTGTAGGTGTATTATGTGGAGGTGTGTATATGTGGAGGTGTGTATATG TGTAGGCGTATATGTGTAGGCGTATATGTGTAGGCGTATATGTGTAGGCG TATATGTGGAGGTGTGTATATGTGGAGGTGTGTATATGTGTAGGCGTATA TGTGTAGGCGTATATGTGGAGGTGTGTATATGTGGAGGTGTGTATATGTG TAGGCGTATATGTGTAGGCGTATATGTGTAGGCGTATATGTGTAGGTGTG TATATGTGGAGGTGTGTATATGTGGAGTTGTGGAGGTGTGTATATGTGGA GGTGTGTATATGTGTAGGCGTATATGTGTAGGCGTATATGTGTAGGCATA TATGTGGAGGTGTGTATATGTGGAGGTGTGTATATGTGGAGGTGTGTATA TGTGGAGGTGTATATGTGTAGGCGTATATGTGTAGGCGTATATGTGTAGG CGTATATGTGTAGGCATATATGTGTAGGCGT	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	4/4			chr9	TogoVar
AP3D1_chr19_2095988_2156566	2128903	C C	CCCCACAG others(502): Show CCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTC CGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCAC CCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCC GGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCA CAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGAC ACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCG TGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCC CGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCG CTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACT GCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGG AGCCGGCCCG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	406	0.0025	509	c.806 others(524): Show c.806+186_806+187insCGGGCCGGCTCCACGGGGTGCAGTGTCGGA GCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCGGCGGGGGC GGGCCGGCTCCACGGGGTGCAGTGTCGGAGCGGCGGGGGCGGGCCGGCTC CACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCA GTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCT GTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCGGCGGGGGCGGG CCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACG GGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGT CGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGG GGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGC TCCACGGGGTGCAGTGTCGGAGCTGTGGG	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
ATF1_chr12_50759101_50826162	50823525	A A	ATATTATA others(502): Show ATATTATATATATAATCTATATTATATATAATATAGATTATATATATAAT ATAGATTATATATATAATCTATATTATATATAATATAGATTATATAATAT ATATTATATAATCTATATTATATATAATATAGATTATATATATAATCTAT ATTATATAATCTATATTATATATAATATAGATTATATATATAATCTATAT TATATAATCTATATTATATATAATATAGATTATATATATAATCTATATTA TATAATCTATATTATATATAATATAGATTATATAATCTATATTATATAAT CTATATTATATATAATATAGATTATATAATCTATATTATATAATCTATAT TATATATAATATAGATTATATAATCTATATTATATAATCTATATTATATA TAATATAGATTATATATATAATCTATATTATATATAATATAGATTATATA TATAATCTATATTATATAATCTATATTATATATAATATAGATTATATATA TAATCTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0300 a0001c0002t0001g0300	1	382	0.0026	509	c.37 others(520): Show c.3746_*3747insTATTATATATATAATCTATATTATATATAATATA GATTATATATATAATATAGATTATATATATAATCTATATTATATATAATA TAGATTATATAATATATATTATATAATCTATATTATATATAATATAGATT ATATATATAATCTATATTATATAATCTATATTATATATAATATAGATTAT ATATATAATCTATATTATATAATCTATATTATATATAATATAGATTATAT ATATAATCTATATTATATAATCTATATTATATATAATATAGATTATATAA TCTATATTATATAATCTATATTATATATAATATAGATTATATAATCTATA TTATATAATCTATATTATATATAATATAGATTATATAATCTATATTATAT AATCTATATTATATATAATATAGATTATATATATAATCTATATTATATAT AATATAGATTATATATATAATCTATATTATATAATCTATATTATATATAA TATAGATTATATATATAATCTATAT	ATF1	ENSG00000123268.9	transcript	ENST00000262053.8	protein_coding		2364		chr12	TogoVar
ATP10B_chr5_160558120_160857211	160653921	A A	AATATATG others(502): Show AATATATGTTGTATATACGTATATACATATATAAATATATGTTGTATATA CGTATATACATATATAAATATATGTTGTATATACGTATATACATATATAA ATATATGTTGTATATACGTATATACTATATATGTTGTATATACGTATATA CAACATAAATATATGTTGTATATACGTATATACAACATAAATATATGTTG TATATACGTATATACAACATAAATATATGTTGTATATACGTATATACAAC ATAAATATATGTTGTATATACGTATATACATATATAAATATATGTTGTAT ATACGTATATACATATATAAATATATGTTGTATATACGTATATACTATAT ATGTTGTATATACGTATATACAACATATATTTATATATGTATATACGTAT ATACAACATAAATATATGTTGTATATACGTATATACAACATAAATATATG TTGTATATACGTATATACAACATAAATATATGTTGTATATACGTATATAC ATATATAAAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG01109.hp2 others(9): Show HG00438.hp2 HG00558.hp1 HG01109.hp2 HG02257.hp1 HG03195.hp1 NA18941.hp2 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18971.hp2 NA18982.hp2 NA19030.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0009 a0001c0001 a0001c0002 a0004c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0002t0007 a0001c0002t0011 a0004c0009t0001	a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0134 others(9): Show a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0134 a0001c0001t0001g0143 a0001c0001t0001g0156 a0001c0001t0003g0095 a0001c0001t0008g0168 a0001c0002t0007g0076 a0001c0002t0007g0180 a0001c0002t0007g0229 a0001c0002t0011g0145 a0004c0009t0001g0114	12	236	0.0509	509	c.676 others(526): Show c.676-4666_676-4665insATTTATATATGTATATACGTATATACAA CATATATTTATGTTGTATATACGTATATACAACATATATTTATGTTGTAT ATACGTATATACAACATATATTTATGTTGTATATACGTATATACATATAT AAATATATGTTGTATATACGTATATACAACATATATAGTATATACGTATA TACAACATATATTTATATATGTATATACGTATATACAACATATATTTATA TATGTATATACGTATATACAACATATATTTATGTTGTATATACGTATATA CAACATATATTTATGTTGTATATACGTATATACAACATATATTTATGTTG TATATACGTATATACAACATATATTTATGTTGTATATACGTATATACAAC ATATATAGTATATACGTATATACAACATATATTTATATATGTATATACGT ATATACAACATATATTTATATATGTATATACGTATATACAACATATATTT ATATATGTATATACGTATATACAACATATAT	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP10B_chr5_160558120_160857211	160653921	A A	AATATATG others(502): Show AATATATGTTGTATATACGTATATACATATATAAATATATGTTGTATATA CGTATATACATATATAAATATATGTTGTATATACGTATATACTATATATG TTGTATATACGTATATACAACATAAATATATGTTGTATATACGTATATAC AACATAAATATATGTTGTATATACGTATATACAACATAAATATATGTTGT ATATACGTATATACAACATAAATATATGTTGTATATACGTATATACATAT ATAAATATATGTTGTATATACGTATATACATATATAAATATATGTTGTAT ATACGTATATACTATATATGTTGTATATACGTATATACAACATATATTTA TATATGTATATACGTATATACAACATAAATATATGTTGTATATACGTATA TACAACATAAATATATGTTGTATATACGTATATACAACATAAATATATGT TGTATATACGTATATACATATATAAATATATGTTGTATATACGTATATAC ATATATAAAT	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA19004.hp1 NA19065.hp1 NA18941.hp1 NA19004.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0117 a0001c0001t0001g0122 a0001c0001t0001g0052 a0001c0001t0001g0117 a0001c0001t0001g0122	3	236	0.0127	509	c.676 others(526): Show c.676-4666_676-4665insATTTATATATGTATATACGTATATACAA CATATATTTATATATGTATATACGTATATACAACATATATTTATGTTGTA TATACGTATATACAACATATATTTATGTTGTATATACGTATATACAACAT ATATTTATGTTGTATATACGTATATACATATATAAATATATGTTGTATAT ACGTATATACAACATATATAGTATATACGTATATACAACATATATTTATA TATGTATATACGTATATACAACATATATTTATATATGTATATACGTATAT ACAACATATATTTATGTTGTATATACGTATATACAACATATATTTATGTT GTATATACGTATATACAACATATATTTATGTTGTATATACGTATATACAA CATATATTTATGTTGTATATACGTATATACAACATATATAGTATATACGT ATATACAACATATATTTATATATGTATATACGTATATACAACATATATTT ATATATGTATATACGTATATACAACATATAT	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
B4GALNT3_chr12_454939_568509	511802	T T	TCTTCCAC others(502): Show TCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTC TTCCACCTTCCACCTTCCACCTTCCACCTTCCACCTTCCACCTTCTTCCA CCTTCCACCTTCCACCTTCTACCTTCCTTCCACCTTCCACCTTCCACCTT CCACCTTCTTCCACCTTCCACCTTCCACCTTCTACCTTCCTTCCACCTTC CACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTCCA CCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTCCACC TTCCACCTTCTACCTTCCTTCCACCTTCCGCCTTCCACCTTCCACCTTCC TTCCACCTTCCACCTTCCACCTTCGACCTTCCGCCTTCCGCCTTCCGCCT TCCACCTTCTGTCTTCCACCTTCCTTCCACCTTCCGCCTTCCACCTTCCT TCCACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTTC CACCTTCCAC	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0018 a0002c0003t0018	a0002c0003t0018g0251 a0002c0003t0018g0251	1	394	0.0025	509	c.170 others(528): Show c.170-23353_170-23352insCACCTTCCACCTTCTTCCACCTTCCA CCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCCACCTTCCACCTTC CACCTTCTTCCACCTTCCACCTTCCACCTTCTACCTTCCTTCCACCTTCC ACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTACCTT CCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTC TTCCACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTT CCACCTTCCACCTTCCACCTTCTACCTTCCTTCCACCTTCCGCCTTCCAC CTTCCACCTTCCTTCCACCTTCCACCTTCCACCTTCGACCTTCCGCCTTC CGCCTTCCGCCTTCCACCTTCTGTCTTCCACCTTCCTTCCACCTTCCGCC TTCCACCTTCCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTCCACCT TCCACCTTCTTCCACCTTCCACCTTCCACCTTC	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
C2orf16_chr2_27532386_27587722	27539760	C C	CCCCCCCC others(502): Show CCCCCCCCCCCCCCCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGG GCAGCTGGCCGACCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGTGGGGCTGATC CCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0048 a0048	a0048c0038 a0048c0038	a0048c0038t0001 a0048c0038t0001	a0048c0038t0001g0239 a0048c0038t0001g0239	1	326	0.0031	509	c.144 others(526): Show c.144+2193_144+2194insCCCCCCCCCCCCCGGACGGGGCGGCTGG CCAGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACAGGGCAGCTGGCCGACCCCCCCCCCCCCCCCGCCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGG CCAGGCGTGGGGCTGATCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCC	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf16_chr2_27532386_27587722	27539760	C C	CCCCCCCC others(502): Show CCCCCCCCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCC GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCAGCTG GCCGACCCCCCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCACCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGTGGGGCTCATC CCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0004 a0002c0006t0001g0004	1	326	0.0031	509	c.144 others(526): Show c.144+2193_144+2194insCCCCCCGGACGGGGCGGCTGGCCAGGCA GAGGGGTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACAGGGCAGCTGGCCGACCCCCCCCCCCCCCCCCCCCCCCGCCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCTGG CCAGGCGTGGGGCTCATCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCC	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKK2_chr12_121232692_121301709	121255235	T T	TATATATA others(502): Show TATATATATAATTATATATATATATAATTATATATATAATTTTATATATA TATAATTATATATATAATTTTATATATATATAATTATATATATAATTTTA TATATATATAATTATATATATAATTATATATATATAAAATTATATATAAA ATTATATATATAATTATATATATATTATATATATAATTTTATATATATAT TATATATATAATTTTATATATATTATATATATAATTTTATATATATATAA TTATATATATATAATTTTATATATATAATTATATATATAATTATATATAT AATTATATATATATAATTATATATATAATTTTATATATAATTTTATATAT AATTTTATATATATAATTATATATATAATTTTATATATATATAATTATAT ATATAATATTATATATAATTATATATATAATTATATATATATTTTTATAT ATATAATTATATATATAATTATATATATAATTTTATATATATATATAATT ATATATATAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0105 a0002c0002t0003g0105	1	330	0.0030	509	c.907 others(524): Show c.907+314_907+315insTTATATATATAATTATATATATATATAAAA TTATATATATAATTATATATATAATTATATATATAAAAATATATATATAA TTATATATATAATTATATATAATATTATATATATAATTATATATATATAA AATTATATATATAATTATATATATAAAATTATATATAAAATTATATATAA AATTATATATATAATTATATATATATAATTATATATATAATTATATATAT AATTATATATATAAAATTATATATATATAATTATATATATATAAAATTAT ATATATAATATATATAAAATTATATATATAATATATATATAAAATTATAT ATATAATATATATATAATTATATATATAATTTTATATATAATTTTATATA TATATAATTATATATATAATTATATATATATAAAATTATATATATAATTA TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATATATAATTATATATAT	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121255235	T T	TATATATA others(502): Show TATATATATAATTATATATATATATAATTATATATATAATTTTATATATA TATAATTATATATATAATTTTATATATATATAATTATATATATAATTTTA TATATATATAATTATATATATAATTATATATATATAAAATTATATATAAA ATTATATATATAATTATATATATATTATATATATAATTTTATATATATAT TATATATATAATTTTATATATATTATATATATAATTTTATATATATATAA TTATATATATATAATTTTATATATATAATTATATATATAATTATATATAT ATAATTATATATATAATTATATATATAATTTTATATATAATTTTATATAT AATTTTATATATATAATTATATATATAATTTTATATATATATAATTATAT ATATAATATTATATATAATTATATATATAATTATATATATATTTTTATAT ATATAATTATATATATAATTATATATATAATTTTATATATATATATAATT ATATATATAA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0024 a0002c0002t0003g0024	1	330	0.0030	509	c.907 others(524): Show c.907+314_907+315insTTATATATATAATTATATATATATATAAAA TTATATATATAATTATATATATAATTATATATATAAAAATATATATATAA TTATATATATAATTATATATAATATTATATATATAATTATATATATATAA AATTATATATATAATTATATATATAAAATTATATATAAAATTATATATAA AATTATATATATAATTATATATATAATTATATATATATAATTATATATAT AATTATATATATAAAATTATATATATATAATTATATATATATAAAATTAT ATATATAATATATATAAAATTATATATATAATATATATATAAAATTATAT ATATAATATATATATAATTATATATATAATTTTATATATAATTTTATATA TATATAATTATATATATAATTATATATATATAAAATTATATATATAATTA TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATATATAATTATATATAT	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAPN15_chr16_522712_559636	550768	C C	CCGGTGAG others(502): Show CCGGTGAGGGTCCCCGGTCGGTGAGGGCGCCCCGTCAGTGAGGGTCCCGG TCAGTGAGGGCCCCGGTCGGTGAGGGTCCCCGGTCGGTGAGGGCCCCTGT CGGTGAGGGCCCCGGTCGGTGAGGGACCCGGTCGGTGAGGGCCCCCTGTC GGTGAGGGTCCCCTGTCGGTGAGGGCCCCGGTCGGTGAGGGCCCCGGTCG GTGAGGGTCCCCTGTCGGTGAGGGTCCCCTGTCGGTGAGGGTCCCGGTCG GTGAGGGCCCCGGTCGGTGAGGGTGCCCCGTCGGTGAGGGTCCCGGTCGG TGAGGGTCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTGCCCCGTCGGT GATGGCCCCGGTCGGTGAGGGTCCCGGTCGGTGAGGGTCCCCTGTCGGTG AGGGCCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTCCCCTGTCGGTGA GGGTCCCCTGTCGGTGAGGGTCCCGGTCGGTGAGGGCCCCGGTCGGTGAG GGTGCCCCGT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0138 a0001c0008t0001g0138	1	410	0.0024	509	c.206 others(526): Show c.2067-521_2067-520insCGGTCGGTGAGGGCGCCCCGTCAGTGAG GGTCCCGGTCAGTGAGGGCCCCGGTCGGTGAGGGTCCCCGGTCGGTGAGG GCCCCTGTCGGTGAGGGCCCCGGTCGGTGAGGGACCCGGTCGGTGAGGGC CCCCTGTCGGTGAGGGTCCCCTGTCGGTGAGGGCCCCGGTCGGTGAGGGC CCCGGTCGGTGAGGGTCCCCTGTCGGTGAGGGTCCCCTGTCGGTGAGGGT CCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTGCCCCGTCGGTGAGGGTC CCGGTCGGTGAGGGTCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTGCC CCGTCGGTGATGGCCCCGGTCGGTGAGGGTCCCGGTCGGTGAGGGTCCCC TGTCGGTGAGGGCCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTCCCCT GTCGGTGAGGGTCCCCTGTCGGTGAGGGTCCCGGTCGGTGAGGGCCCCGG TCGGTGAGGGTGCCCCGTCGGTGAGGGTCCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCDC110_chr4_185440182_185476733	185471208	G G	GGGGAGGG others(502): Show GGGGAGGGCCGGGAGGGCGGGGAGGGCGGGGCGGAGGGAATTAGGAGGGG GCGGGTTTGAAGGCTGGGGCGGGGCGCAGGGATGGGATGGGGCGGAGAGA CTGGGCGGGACCTGTGGGGGCAGAGGAATGGGGCGGGGTCAAGGCTGAAG GCTGGGGCGGGGCAGAGGGATGGGGCGGGGCAGGGCTGAAGGCTGGGGCG GGGCGGAGGGAATTAGGAGGGGGCGGGGCTGAAGGCTGGGGCGGGGGGGC GGGGAGGGCCGGGAGGGCCGGGAGGGCGGGGCGGAGGGAATTAGGAGGGG GCGGGTTTGAAGGCTGGGGCGGGGCGCAGGGATGGGATGGGGCGGAGAGA CTGGGCGGGACCTGTGGGGGCAGAGGAATGGGGCGGGGTCAAGGCTGAAG GCTGGGGCGGGGCAGAGGGATGGGGCGGGGCAGGGCTGAAGGCTGGGGCG GGGCGGAGGGAATTAGGAGGGGGCGGGGCTGAAGGCTGGGGCGGGGGGGC GGGGAGGGCC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0201 a0003c0003t0001g0201	1	428	0.0023	509	c.11- others(522): Show c.11-160_11-159insGGCCCTCCCCGCCCCCCCGCCCCAGCCTTCAG CCCCGCCCCCTCCTAATTCCCTCCGCCCCGCCCCAGCCTTCAGCCCTGCC CCGCCCCATCCCTCTGCCCCGCCCCAGCCTTCAGCCTTGACCCCGCCCCA TTCCTCTGCCCCCACAGGTCCCGCCCAGTCTCTCCGCCCCATCCCATCCC TGCGCCCCGCCCCAGCCTTCAAACCCGCCCCCTCCTAATTCCCTCCGCCC CGCCCTCCCGGCCCTCCCGGCCCTCCCCGCCCCCCCGCCCCAGCCTTCAG CCCCGCCCCCTCCTAATTCCCTCCGCCCCGCCCCAGCCTTCAGCCCTGCC CCGCCCCATCCCTCTGCCCCGCCCCAGCCTTCAGCCTTGACCCCGCCCCA TTCCTCTGCCCCCACAGGTCCCGCCCAGTCTCTCCGCCCCATCCCATCCC TGCGCCCCGCCCCAGCCTTCAAACCCGCCCCCTCCTAATTCCCTCCGCCC CGCCCTCCCCGCCCTCCCGGCCCTCCC	CCDC110	ENSG00000168491.10	transcript	ENST00000307588.8	protein_coding	1/6			chr4	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(502): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTATATATAAAATAAA TATTTATTTTAATATTAAAATAAATATTTATTTTATATATTAAATAAATA TTTATTTTATATATTAAAATAAATATTTATTTTATATATAAAATAAATAT TTATTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATT TATTTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTATATATAAAATAAATATTTATTT TAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTT TAATATATTAAAATAAATATTTATTTTATTTATTTATTTTAATATATAAA ATATTTTATT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	402	0.0025	509	c.80- others(524): Show c.80-4988_80-4987insAATATTTATTTTATATATAAAATAAATATT TATTTTAATATTAAAATAAATATTTATTTTATATATTAAATAAATATTTA TTTTATATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTAT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTATATATAAAATAAATATTTATTTTAAT ATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAAT ATATTAAAATAAATATTTATTTTATTTATTTATTTTAATATATAAAATAT TTTATTTATTTATTTTAATATATAAAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CKM_chr19_45301413_45327875	45325126	A A	AAGGAGGC others(502): Show AAGGAGGCTGAGGCAGGAGGATTGCTTGAGCTCAGGAGTTCAAGACCACC CTGGCCAACGCGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCC GGACATGGTGGGACACACCTATAGTCTCAGCTACTCAGGAGGCCGAGATG GGAGGATCACTTGAGCCTGGGGAGGTGAGGCTGCGGTGAGCTGTGATCGC ACTGCTGCACTCCAGCCTTGGTGACAGAGCGAGACTGTGTCTAAAAAAAA AACAAAAAACAAAAAACAATTGAACTGAGGGAGACAGAGCAGAAGGATGG ACTCCAGAGCCTGAGAAGGGTAATAGGCCAGGTGCAGTGGCTCACACCTG TAATCCCAGCACTTTGGGAGGCCAAGGAGGAAGGATCCCTTGAGCCCAGG AGTTAGAGACTAGCCTCGGCAACATAGCTAAACCCCGTCTCCACAAAAAA TAAAAAAAACTACAAAAATTATCTGGGCGTAGTGGAGTGCATCTGTGGTC CCAGCTACTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(378): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0000 a0001 a0002 others(2): Show a0000 a0001 a0002 a0003 a0004	a0000c0013 a0001c0001 a0001c0002 others(11): Show a0000c0013 a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0012 a0001c0014 a0002c0011 a0003c0009 a0004c0010	a0000c0013t0001 a0001c0001t0001 a0001c0001t0005 others(19): Show a0000c0013t0001 a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0007t0001 a0001c0008t0001 a0001c0008t0003 a0001c0012t0001 a0001c0014t0001 a0002c0011t0001 a0003c0009t0001 a0004c0010t0001	a0000c0013t0001g0252 a0001c0001t0001g0001 a0001c0001t0001g0002 others(319): Show a0000c0013t0001g0252 a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0130 a0001c0001t0001g0145 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0199 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0235 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0284 a0001c0001t0001g0287 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0332 a0001c0001t0005g0021 a0001c0001t0005g0102 a0001c0001t0005g0128 a0001c0001t0005g0129 a0001c0001t0006g0271 a0001c0002t0001g0003 a0001c0002t0001g0005 a0001c0002t0001g0008 a0001c0002t0001g0015 a0001c0002t0001g0024 a0001c0002t0001g0039 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0053 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0097 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0141 a0001c0002t0001g0144 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0192 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0198 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0236 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0285 a0001c0002t0001g0289 a0001c0002t0001g0319 a0001c0002t0001g0329 a0001c0002t0001g0330 a0001c0002t0001g0331 a0001c0002t0002g0025 a0001c0002t0002g0159 a0001c0002t0002g0188 a0001c0002t0002g0189 a0001c0002t0004g0140 a0001c0002t0004g0142 a0001c0002t0004g0143 a0001c0002t0004g0233 a0001c0003t0001g0010 a0001c0003t0001g0017 a0001c0003t0001g0018 a0001c0003t0001g0019 a0001c0003t0001g0020 a0001c0003t0001g0022 a0001c0003t0001g0026 a0001c0003t0001g0041 a0001c0003t0001g0050 a0001c0003t0001g0051 a0001c0003t0001g0059 a0001c0003t0001g0078 a0001c0003t0001g0083 a0001c0003t0001g0084 a0001c0003t0001g0085 a0001c0003t0001g0089 a0001c0003t0001g0090 a0001c0003t0001g0096 a0001c0003t0001g0098 a0001c0003t0001g0099 a0001c0003t0001g0100 a0001c0003t0001g0101 a0001c0003t0001g0103 a0001c0003t0001g0104 a0001c0003t0001g0105 a0001c0003t0001g0106 a0001c0003t0001g0107 a0001c0003t0001g0108 a0001c0003t0001g0109 a0001c0003t0001g0110 a0001c0003t0001g0111 a0001c0003t0001g0113 a0001c0003t0001g0117 a0001c0003t0001g0118 a0001c0003t0001g0126 a0001c0003t0001g0127 a0001c0003t0001g0135 a0001c0003t0001g0136 a0001c0003t0001g0137 a0001c0003t0001g0223 a0001c0003t0001g0230 a0001c0003t0001g0231 a0001c0003t0001g0232 a0001c0003t0001g0239 a0001c0003t0001g0240 a0001c0003t0001g0241 a0001c0003t0001g0242 a0001c0003t0001g0243 a0001c0003t0001g0244 a0001c0003t0001g0246 a0001c0003t0001g0253 a0001c0003t0001g0254 a0001c0003t0001g0260 a0001c0003t0001g0261 a0001c0003t0001g0263 a0001c0003t0001g0264 a0001c0003t0001g0283 a0001c0003t0001g0290 a0001c0003t0001g0318 a0001c0003t0001g0324 a0001c0003t0001g0325 a0001c0003t0001g0326 a0001c0003t0002g0238 a0001c0003t0002g0296 a0001c0003t0002g0300 a0001c0003t0002g0311 a0001c0003t0003g0016 a0001c0003t0003g0093 a0001c0003t0003g0094 a0001c0003t0003g0095 a0001c0003t0003g0262 a0001c0003t0004g0060 a0001c0003t0004g0291 a0001c0004t0001g0007 a0001c0004t0001g0011 a0001c0004t0001g0023 a0001c0004t0001g0033 a0001c0004t0001g0042 a0001c0004t0001g0043 a0001c0004t0001g0068 a0001c0004t0001g0069 a0001c0004t0001g0160 a0001c0004t0001g0174 a0001c0004t0001g0175 a0001c0004t0001g0176 a0001c0004t0001g0177 a0001c0004t0001g0178 a0001c0004t0001g0187 a0001c0004t0001g0190 a0001c0004t0001g0191 a0001c0004t0001g0193 a0001c0004t0001g0196 a0001c0004t0001g0197 a0001c0004t0001g0200 a0001c0004t0001g0204 a0001c0004t0001g0205 a0001c0004t0001g0206 a0001c0004t0001g0211 a0001c0004t0001g0234 a0001c0004t0001g0286 a0001c0004t0001g0288 a0001c0004t0001g0303 a0001c0004t0001g0304 a0001c0004t0001g0305 a0001c0004t0001g0320 a0001c0005t0001g0054 a0001c0005t0001g0114 a0001c0005t0001g0116 a0001c0005t0001g0121 a0001c0005t0001g0124 a0001c0005t0001g0125 a0001c0005t0001g0131 a0001c0005t0001g0132 a0001c0005t0001g0133 a0001c0005t0001g0134 a0001c0005t0001g0282 a0001c0005t0001g0327 a0001c0006t0001g0115 a0001c0006t0001g0122 a0001c0006t0001g0123 a0001c0006t0001g0237 a0001c0006t0001g0277 a0001c0007t0001g0081 a0001c0007t0001g0088 a0001c0007t0001g0179 a0001c0008t0001g0086 a0001c0008t0003g0087 a0001c0012t0001g0308 a0001c0014t0001g0328 a0002c0011t0001g0148 a0003c0009t0001g0164 a0004c0010t0001g0049	381	392	0.9719	509	c.-23 others(520): Show c.-2325_-2324insGAGTAGCTGGGACCACAGATGCACTCCACTACGC CCAGATAATTTTTGTAGTTTTTTTTATTTTTTGTGGAGACGGGGTTTAGC TATGTTGCCGAGGCTAGTCTCTAACTCCTGGGCTCAAGGGATCCTTCCTC CTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTGGC CTATTACCCTTCTCAGGCTCTGGAGTCCATCCTTCTGCTCTGTCTCCCTC AGTTCAATTGTTTTTTGTTTTTTGTTTTTTTTTTAGACACAGTCTCGCTC TGTCACCAAGGCTGGAGTGCAGCAGTGCGATCACAGCTCACCGCAGCCTC ACCTCCCCAGGCTCAAGTGATCCTCCCATCTCGGCCTCCTGAGTAGCTGA GACTATAGGTGTGTCCCACCATGTCCGGCTAATTTTTGTATTTTTAGTAG AGACAGGGTTTCACCGCGTTGGCCAGGGTGGTCTTGAACTCCTGAGCTCA AGCAATCCTCCTGCCTCAGCCTCCT	CKM	ENSG00000104879.5	transcript	ENST00000221476.4	protein_coding		2252		chr19	TogoVar
CKM_chr19_45301413_45327875	45325126	A A	AAGGAGGC others(502): Show AAGGAGGCTGAGGCAGGAGGATTGCTTGAGCTCAGGAGTTCAAGACCACC CTGGCCAACGCGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCC GGACATGGTGGGACACACCTATAGTCTCAGCTACTCAGGAGGCCGAGATG GGAGGATCACTTGAGCCTGGGGAGGTGAGGCTGCGGTGAGCTGTGATCGC ACTGCTGCACTCCAGCCTTGGTGACAGAGCGAGACTGTGTCTAAAAAAAA AACAAAAAACAAAAAACAATTGAACTGAGGGAGACAGAGCAGAAGGATGG ACTCCAGAGCCTGAGAAGGGTAATAGGCCAGGTGCAGTGGCTCACACCTG TAATCCCAGCACTTTGGGAGGCCAAGGAGGAAGGATCCCTTGAGCCCAGG AGTTAGAGACTAGCCTCGGCAACATAGCTAAACCCTGTCTCCACAAAAAA TAAAAAAAACTACAAAAATTATCTGGGCGTAGTGGAGTGCATCTGTGGTC CCAGCTACTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0112 a0001c0003t0001g0112	1	392	0.0026	509	c.-23 others(520): Show c.-2325_-2324insGAGTAGCTGGGACCACAGATGCACTCCACTACGC CCAGATAATTTTTGTAGTTTTTTTTATTTTTTGTGGAGACAGGGTTTAGC TATGTTGCCGAGGCTAGTCTCTAACTCCTGGGCTCAAGGGATCCTTCCTC CTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTGGC CTATTACCCTTCTCAGGCTCTGGAGTCCATCCTTCTGCTCTGTCTCCCTC AGTTCAATTGTTTTTTGTTTTTTGTTTTTTTTTTAGACACAGTCTCGCTC TGTCACCAAGGCTGGAGTGCAGCAGTGCGATCACAGCTCACCGCAGCCTC ACCTCCCCAGGCTCAAGTGATCCTCCCATCTCGGCCTCCTGAGTAGCTGA GACTATAGGTGTGTCCCACCATGTCCGGCTAATTTTTGTATTTTTAGTAG AGACAGGGTTTCACCGCGTTGGCCAGGGTGGTCTTGAACTCCTGAGCTCA AGCAATCCTCCTGCCTCAGCCTCCT	CKM	ENSG00000104879.5	transcript	ENST00000221476.4	protein_coding		2252		chr19	TogoVar
CKM_chr19_45301413_45327875	45325126	A A	AAGGAGGC others(502): Show AAGGAGGCTGAGGCAGGAGGATTGCTTGAGCTCAGGAGTTCAAGACCACC CTGGCCAATGCGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCC GGACATGGTGGGACACACCTATAGTCTCAGCTACTCAGGAGGCCGAGATG GGAGGATCACTTGAGCCTGGGGAGGTGAGGCTGCGGTGAGCTGTGATCGC ACTGCTGCACTCCAGCCTTGGTGACAGAGCGAGACTGTGTCTAAAAAAAA AACAAAAAACAAAAAACAATTGAACTGAGGGAGACAGAGCAGAAGGATGG ACTCCAGAGCCTGAGAAGGGTAATAGGCCAGGTGCAGTGGCTCACACCTG TAATCCCAGCACTTTGGGAGGCCAAGGAGGAAGGATCCCTTGAGCCCAGG AGTTAGAGACTAGCCTCGGCAACATAGCTAAACCCCGTCTCCACAAAAAA TAAAAAAAACTACAAAAATTATCTGGGCGTAGTGGAGTGCATCTGTGGTC CCAGCTACTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03540.hp1 HG03471.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0146 a0001c0002t0001g0147	2	392	0.0051	509	c.-23 others(520): Show c.-2325_-2324insGAGTAGCTGGGACCACAGATGCACTCCACTACGC CCAGATAATTTTTGTAGTTTTTTTTATTTTTTGTGGAGACGGGGTTTAGC TATGTTGCCGAGGCTAGTCTCTAACTCCTGGGCTCAAGGGATCCTTCCTC CTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTGGC CTATTACCCTTCTCAGGCTCTGGAGTCCATCCTTCTGCTCTGTCTCCCTC AGTTCAATTGTTTTTTGTTTTTTGTTTTTTTTTTAGACACAGTCTCGCTC TGTCACCAAGGCTGGAGTGCAGCAGTGCGATCACAGCTCACCGCAGCCTC ACCTCCCCAGGCTCAAGTGATCCTCCCATCTCGGCCTCCTGAGTAGCTGA GACTATAGGTGTGTCCCACCATGTCCGGCTAATTTTTGTATTTTTAGTAG AGACAGGGTTTCACCGCATTGGCCAGGGTGGTCTTGAACTCCTGAGCTCA AGCAATCCTCCTGCCTCAGCCTCCT	CKM	ENSG00000104879.5	transcript	ENST00000221476.4	protein_coding		2252		chr19	TogoVar

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Search Results (Total: 10000 hits)