Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RASA3_chr13_113972783_114137623	114113618	C C	CGGCGAGT others(656): Show CGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCATCAGTCCACCCACC ATGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCATCAGTCCACCCAC CATGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCATCAGTCCACCCA CCATGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCATCAGTCCACCC ACCATGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCATCAGTCCACC CACCATGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCATCAGTCCAC CCACCATGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCATCAGTCCA CCCACCATGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCATCAGTCC ACCCACCATGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCATCAGTC CACCCACCATGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCATCAGT CCACCCACCATGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCATCAG TCCACCCACCATGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCATCA GTCCACCCACCATGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCATC AGTCCACCCACCAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	67	0.0149	663	c.55+ others(680): Show c.55+18816_55+18817insATGGTGGGTGGACTGATGGACGCGGTGT GAGCTGTACGGACATCACTCGCCATGGTGGGTGGACTGATGGACGCGGTG TGAGCTGTACGGACATCACTCGCCATGGTGGGTGGACTGATGGACGCGGT GTGAGCTGTACGGACATCACTCGCCATGGTGGGTGGACTGATGGACGCGG TGTGAGCTGTACGGACATCACTCGCCATGGTGGGTGGACTGATGGACGCG GTGTGAGCTGTACGGACATCACTCGCCATGGTGGGTGGACTGATGGACGC GGTGTGAGCTGTACGGACATCACTCGCCATGGTGGGTGGACTGATGGACG CGGTGTGAGCTGTACGGACATCACTCGCCATGGTGGGTGGACTGATGGAC GCGGTGTGAGCTGTACGGACATCACTCGCCATGGTGGGTGGACTGATGGA CGCGGTGTGAGCTGTACGGACATCACTCGCCATGGTGGGTGGACTGATGG ACGCGGTGTGAGCTGTACGGACATCACTCGCCATGGTGGGTGGACTGATG GACGCGGTGTGAGCTGTACGGACATCACTCGCCATGGTGGGTGGACTGAT GGACGCGGTGTGAGCTGTACGGACATCACTCGCCATGGTGGGTGGACTGA TGGACGCGGTGTGAGCTGTACGGACATCACTCGCC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RFC1_chr4_39282456_39371362	39348424	A A	AAAAAGAA others(656): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	276	0.0036	663	c.132 others(680): Show c.132+2923_132+2924insCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar
RHOA_chr3_49354145_49416976	49404094	G G	GTACATGT others(656): Show GTACATGTGCACAATGTGCAGGTTAGTTACATATGTATACATGTGCCATG CTGCTGTACTGCACCCATTAGCTCGTCATTTAGCATTAGGTATATCTCCT AATGCTATCCCTCCCCCCTCCCCCCACCCCACAACAGTCTCCAGAGTGTG ATGTTCCCCTTCCTGTGCCATGTGTTCTGGAAACGGGATTTCCTCATATA ATGTTACACAGAAGAATTCTCAGTAACTTATTTGTGGTGTGTGTATTCAA CTCACAGAGTTGAACCTTCCTTCAGAAAGAGCAGATTTGAAACACTCTTT TTGTGGAGTTTCCATGAGAATAACTGAAACAATAAGCCTTTCCTATGTAA ATATTTGGACACGACTACACTGGCAGAGATAATGCTGTTGGATGGCTGCC CCTCCCTGTAGGCCCACCATGAATGTGACCGCTGCAGGTACAGCCAGACT CAAGTATGTTGCATTGGTGCTGCAATCAGTCTCTAAGAAAATGAATGAAA AGAGCAAGAAGTCGGATCAAAAATACAAGCCAATAACGACTTTACAAGAT AAAACAAGTAATTTTCAAAATTGTTGGACTGAAATGATAATAATATATAC ATAAACAACTCTAGATATGGTCTCTCTTCCTTTTGTCCCTAAATGCTACT TTTAAATTTTCTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00733.hp1 HG01069.hp2 others(23): Show HG00140.hp1 HG00733.hp1 HG01069.hp2 HG01070.hp2 HG01175.hp1 HG01192.hp2 HG01255.hp1 HG01433.hp1 HG01516.hp1 HG01517.hp1 HG01981.hp1 HG02027.hp2 HG02109.hp2 HG02257.hp2 HG02300.hp1 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG03098.hp1 HG03239.hp1 HG03688.hp1 HG03834.hp2 NA19030.hp1 NA19043.hp1 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 others(23): Show a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0249 a0001c0001t0007g0105	26	264	0.0985	663	c.-3+ others(678): Show c.-3+7725_-3+7726insAAAGAAAATTTAAAAGTAGCATTTAGGGAC AAAAGGAAGAGAGACCATATCTAGAGTTGTTTATGTATATATTATTATCA TTTCAGTCCAACAATTTTGAAAATTACTTGTTTTATCTTGTAAAGTCGTT ATTGGCTTGTATTTTTGATCCGACTTCTTGCTCTTTTCATTCATTTTCTT AGAGACTGATTGCAGCACCAATGCAACATACTTGAGTCTGGCTGTACCTG CAGCGGTCACATTCATGGTGGGCCTACAGGGAGGGGCAGCCATCCAACAG CATTATCTCTGCCAGTGTAGTCGTGTCCAAATATTTACATAGGAAAGGCT TATTGTTTCAGTTATTCTCATGGAAACTCCACAAAAAGAGTGTTTCAAAT CTGCTCTTTCTGAAGGAAGGTTCAACTCTGTGAGTTGAATACACACACCA CAAATAAGTTACTGAGAATTCTTCTGTGTAACATTATATGAGGAAATCCC GTTTCCAGAACACATGGCACAGGAAGGGGAACATCACACTCTGGAGACTG TTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTAGGAGATATACCTAAT GCTAAATGACGAGCTAATGGGTGCAGTACAGCAGCATGGCACATGTATAC ATATGTAACTAACCTGCACATTGTGCACATGTA	RHOA	ENSG00000067560.14	transcript	ENST00000418115.6	protein_coding	1/4			chr3	TogoVar
RPA3_chr7_7631518_7723607	7679092	T T	TATAAATA others(656): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATTTATATATTTAATTTATAGATAAATATATA TATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATA AATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTT AGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATAT ATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTAT AGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATA TATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA19081.hp2 NA18961.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0224 a0001c0001t0001g0163 a0001c0001t0001g0224	2	308	0.0065	663	c.-75 others(682): Show c.-758+6737_-758+6738insCTATAAACTAAATATATAAATATATA TTTATCTATAAACTAAATATATAAATATATATTTATCTATAAACTAAATA TATAAATATATATTTATCTATAAACTAAATATATAAATATATATTTATCT ATAAACTAAATATATAAATATATATTTATCTATAAACTAAATATATAAAT ATATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAACT AAATATATAAATATATATTTATCTATAAACTAAATATATATATATTTATC TATAAATTAAATATATAAATATATTTATCTATAAATTAAATATATAAATA TATATTTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTA AATATATAAATATATATTTATCTATAAATTAAATATATAAATATATATTT ATCTATAAATTAAATATATAAATATGTATTTATAAACTAAATATATAAAT ATGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATATGT AAATATGTATTTATAAACTAAATAAATATATATTTATAAACTAAATATGT AAATATATATTTATAAACTAAATAAATATATATTTATAAACTAAATATGT AAATATATATTTATAAACTAAATAAATATATATTTAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPH3AL_chr17_207389_357807	355823	A A	AACAGTCG others(656): Show AACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCT CCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGAC CGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACA CACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAG TCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACA GGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGC ACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACAC ACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCC TCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGA CCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCAC ACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACTCACA GTCGCCTCCACAGGCGACCGCGCACCACACACACTCACAGTCGCCTCCAC AGGCGACCGCGCACCACACACACTCACAGTCGCCTCCACAGGCGACCGCG CACCACACACACTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0007 a0004c0007t0007	a0004c0007t0007g0117 a0004c0007t0007g0117	1	133	0.0075	663	c.-33 others(674): Show c.-3325_-3324insGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCG ACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGT GTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTGGTGCGC GGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTG GAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGT GTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTG GTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCG CCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGC GACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTG TGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCG CGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGT GGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTG TGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGT GGTGCGCGGTCGCCTGTGGAGGCGACTGT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3017		chr17	TogoVar
RPH3AL_chr17_207389_357807	355858	T T	CACTAACA others(656): Show CACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACACACTAACAGTC GTCTTCACAGGCGACCGCGCACCACACACACTAACAGTCGTCTTCACAGG CGACCGCGCACCACACACACTAACAGTCGTCTTCACAGGCGACCGCGCAC CACACACACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACACACTA ACAGTCGTCTTCACAGGCGACCGCGCACCACACACACTAACAGTCGTCTT CACAGGCGACCGCGCACCACACACACTAACAGTCGTCTTCACAGGCGACC GCGCACCACACACACTAACAGTCGTCTTCACAGGCGACCGCGCACCACAC ACACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACACACTAACAGT CGTCTTCACAGGCGACCGCGCACCACACTGACTAACAGTCGTCTTCACAG GCGACCGCGCACCACACTGACTAACAGTCGTCTTCACAGGCGACCGCGCA CCACACTGACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACTGACT AACAGTCGTCTTCACAGGCGACCGCGCACCACACTGACTAACAGTCGTCT TCACAGGCGACCGCGCACCACACTGACTAACAGTCGTCTTCACAGGCGAC CGCGCACCACACTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0059 a0001c0003t0002g0059	1	133	0.0075	663	c.-33 others(673): Show c.-3359delAinsCAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTT AGTCAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTCAGTGTGG TGCGCGGTCGCCTGTGAAGACGACTGTTAGTCAGTGTGGTGCGCGGTCGC CTGTGAAGACGACTGTTAGTCAGTGTGGTGCGCGGTCGCCTGTGAAGACG ACTGTTAGTCAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTCA GTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTGTGTGTGGTGCGC GGTCGCCTGTGAAGACGACTGTTAGTGTGTGTGGTGCGCGGTCGCCTGTG AAGACGACTGTTAGTGTGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGT TAGTGTGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTGTGTGTG GTGCGCGGTCGCCTGTGAAGACGACTGTTAGTGTGTGTGGTGCGCGGTCG CCTGTGAAGACGACTGTTAGTGTGTGTGGTGCGCGGTCGCCTGTGAAGAC GACTGTTAGTGTGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTG TGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTGTGTGTGGTGCG CGGTCGCCTGTGAAGACGACTGTTAGTG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3051		chr17	TogoVar
RPH3AL_chr17_207389_357807	356532	T T	CCACAGGC others(656): Show CCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGAC CGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACA CACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAG TCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACA GGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGC ACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACAC ACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCC TCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGA CCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCAC ACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACA GTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCAC AGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCG CACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACA CACACAGTCGCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0078 a0001c0004t0001g0078	1	133	0.0075	663	c.-40 others(674): Show c.-4033_-4032insAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCC TGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGA CTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTG TGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCG GTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGG AGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTG TGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGG TGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGC CTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCG ACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGT GTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGC GGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTG GAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGT GTGTGTGTGTGGTGCGCGGTCGCCTGTGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3725		chr17	TogoVar
RPH3AL_chr17_207389_357807	356559	T T	TCACAGTC others(656): Show TCACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCC TCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGA CCGCGCACCACACACACTCACAGTCGCCTCCACAGGCGACCGCGCACCAC ACACACTCACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACA GTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCAC AGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCG CACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACA CACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGC CTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCG ACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCA CACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACAC AGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCA CAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGC GCACCACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	133	0.0075	663	c.-40 others(674): Show c.-4061_-4060insTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGA CTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTG TGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCG GTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGG AGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTG TGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGG TGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGC CTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCG ACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGT GTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGC GGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTG GAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGT GTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTG GTGCGCGGTCGCCTGTGGAGGCGACTGTG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3753		chr17	TogoVar
S1PR4_chr19_3173769_3185332	3178129	C C	CTCGGGCT others(656): Show CTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTC TGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGT TTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTG CAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGG GCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGC CTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCC CTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACG CCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCT CTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAG TTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCT GCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCG GGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGG CCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCC CCTTCTGCAACGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	418	0.0024	663	c.-66 others(672): Show c.-664_-663insTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAAC GCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTC TCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCA GTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTC TGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATC GGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGG GCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTC CCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAA CGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCT CTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTC AGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTT CTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCAT CGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTG GGCCTCAGTTTCCCCTTCTGCAACGCA	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		639		chr19	TogoVar
SBNO2_chr19_1102638_1179268	1164894	G G	GAGGAGGA others(656): Show GAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGA GGAACAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAACAGGTGCTAG GACACTGTGGGGACGTCCCAGATGCCAGGGGCAGTGGAGACAGGAGGAGG AGGAGAAGAGGAGGAGAAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAAC AGGAGGAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAGGAACAGGTGCTA AGACACTGTGGGGACGTCCCAGATGCCAGGGGCAGTGGAGACAGGAGGAG GAGGAGGAAGAGGAGGAGAAGGAGGAGGAGGAACAGGAGGAGGAGGAGGA GGAGGAACAGGAGGAGGAGGAGGAATAGGAGGAGGAGGAGGAGGAGGAAC AGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAG GAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGA ACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAGGAACAGG AGGAGGAGGAGGAACAGCAGGAGGAGGAGGCACAGGAGGAGGAGGAGGAG GCACAGGAGGAGGAGGAGGAAGCACAGGAGGAGGAGGAGGAACAGGAGGA GGAGGAGGAGGCAC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0009	a0001c0006t0009g0012 a0001c0006t0009g0012	1	203	0.0049	663	c.-12 others(682): Show c.-127+9277_-127+9278insGTGCCTCCTCCTCCTCCTCCTGTTCC TCCTCCTCCTCCTGTGCTTCCTCCTCCTCCTCCTGTGCCTCCTCCTCCTC CTCCTGTGCCTCCTCCTCCTGCTGTTCCTCCTCCTCCTCCTGTTCCTCCT CCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCC TCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTC CTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCT CCTCCTCCTCCTATTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCC TCCTGTTCCTCCTCCTCCTTCTCCTCCTCTTCCTCCTCCTCCTCCTGTCT CCACTGCCCCTGGCATCTGGGACGTCCCCACAGTGTCTTAGCACCTGTTC CTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTGTTCCTCCTCCT CCTCCTGTTCCTCCTCCTCCTTCTCCTCCTCTTCTCCTCCTCCTCCTGTC TCCACTGCCCCTGGCATCTGGGACGTCCCCACAGTGTCCTAGCACCTGTT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCC TGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCT	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SDK1_chr7_3296252_4274000	3976416	G G	GCAGAGGG others(656): Show GCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCA CGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCC ACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGC CACACAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTG CCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCAGGGCTGAGGCT GCCACACAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGC TGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGG CTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAG GCTGCCACACAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGA GGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTG AGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCT GAGGCTGCCACGCAGACGGTCCTCCAGAGAATCACTGGGGGTCCCAGGGC TGAGGCTGCCACACAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGG CTGAGGCTGCCACA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0018 a0001c0014t0018	a0001c0014t0018g0060 a0001c0014t0018g0060	1	116	0.0086	663	c.199 others(682): Show c.1994+1871_1994+1872insCAGAGGGTCCTCCAGAGAATCACTGA GGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTG AGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACT GAGGGTCCCGGGGCTGAGGCTGCCACACAGAGGGTCCTCCAGAGAATCAC TGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCAGGGCTGAGGCTGCCACACAGAGGGTCCTCCAGAGAATC ACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAAT CACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAA TCACTGGGGGTCCCGGGGCTGAGGCTGCCACACAGAGGGTCCTCCAGAGA ATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAG AATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGA GAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGACGGTCCTCCAG AGAATCACTGGGGGTCCCAGGGCTGAGGCTGCCACACAGAGGGTCCTCCA GAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3977260	C C	CCACGCAG others(656): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGC TGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGG CTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAG GCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGA GGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTG AGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT GAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGC TGAGGCTGCCACGCAGACGGTCCTCCAGAGAATCACTGGGGGTCCCGGGG CTGAGGCTGCCACACAGGGGGCCCTCCAGAGAATCACTGAGGGTCCCGGG GCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGG GGCTGAGGCTGCGAGGCTGCCACACAGAGGGTCCTCCAGAGAATCACTGA GGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGCCCTCCAGAGAATCACTG AGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0010 a0010	a0010c0020 a0010c0020	a0010c0020t0070 a0010c0020t0070	a0010c0020t0070g0008 a0010c0020t0070g0008	1	116	0.0086	663	c.199 others(682): Show c.1994+2715_1994+2716insCACGCAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAAT CACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAA TCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGA ATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAG AATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGA GAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAG AGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGACGGTCCTCCA GAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACACAGGGGGCCCTCC AGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTC CAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCGAGGCTGCCACACAG AGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCA GAGGGCCCTCCAGAGAATCACTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SHISA5_chr3_48462876_48509174	48499782	T T	TGAACCTG others(656): Show TGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGCACGATTGCACT CCAGTCTAGATGCCAGAGCAAGACTCTGTCTCAAAAAAAATAAAAATAAA AAAGAAATACAAGTTTTTTTGTTTTTTGTTTTTTTTTTGAGACAGAGTCT CTTGCTCTGTCACCCAGCCAGGAGTGCAATGGTGCAATCTCGGCTCACTG CAATCTCCGCCTCCCGGGTTCCAGCGATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGGTTACAGAAACCCACCACCACGTCCGGCTAGTTTTTTGTGTT TTTATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCC GACCTCAGGTGATCTGCCTGCCTGGACCTCCCAAAGTGCTGGCATTACAG GCATGAGCCACCGCGCCCGGTTTTTAAATGTTTTTAAAGACATTTGTAAA ATATAAAAATGCCAGGCTGGGTGCTATGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGTCGAGGCAGGCAGATCACCTGAGGTCGGGAGTTCAAGACC AGCCTGGCCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAG CCGGGCGTAGTGGCGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATCGCTG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0022 a0001c0005t0001g0022	1	290	0.0035	663	c.233 others(680): Show c.233+1354_233+1355insCAGCGATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGATTACAGGCGTGCGCCACTACGCCCGGCTAATTTTGTATTT TTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCC GACCTCAGGTGATCTGCCTGCCTCGACCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCATAGCACCCAGCCTGGCATTTTTATATTTTACAAATGTCTT TAAAAACATTTAAAAACCGGGCGCGGTGGCTCATGCCTGTAATGCCAGCA CTTTGGGAGGTCCAGGCAGGCAGATCACCTGAGGTCGGGAGTTCAAGACC AGCCTGGCCAACATGGTGAAACCCCATCTCTATAAAAACACAAAAAACTA GCCGGACGTGGTGGTGGGTTTCTGTAACCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATCGCTGGAACCCGGGAGGCGGAGATTGCAGTGAGCCGAGAT TGCACCATTGCACTCCTGGCTGGGTGACAGAGCAAGAGACTCTGTCTCAA AAAAAAAACAAAAAACAAAAAAACTTGTATTTCTTTTTTATTTTTATTTT TTTTGAGACAGAGTCTTGCTCTGGCATCTAGACTGGAGTGCAATCGTGCG ATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTC	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5			chr3	TogoVar
SLAIN1_chr13_77692687_77769229	77703948	T T	TAAAATAT others(656): Show TAAAATATATATACATATGTTTTATAAGTGTATATATACACATATAAAAT ATATATACATATGTTTTATAAGTGTATATATACACATAAAATATATATAC ATATGTTTTATATGTGTATATATACACATAAAATATATATACATATGTTT TATATGTGTATATATACACATATAAAATATATATACATATGTTTTATATG TGTATATATACACATATAAAATATATATACATATGTTTTATATGTGTATA TATACACATATAAAATATATATACATATGTTTTATATGTGTATATATACA CATATAAAATATATATACATATGTTTTATATGTGTATATATACACATATA AAATATATATACATATGTTTTATATGTATATATACATATAAAATATATAT ACATATGTTTTATATGTATATATACATATAAAATATATATACATATGTTT TATATGTATATATATACATATAAAATATATATACATATAAAATATATACA TATAAAATATATATACATATGTTTTATATGTATATATACATATAAAATAT ATATACATATGTTTTATATGTATATATACATATAAAACATATATACATAT GTTTTATATGTATATATACATATAAATATATATACATATGTTTTATATGT ATATATATACATAG	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	300	0.0033	663	c.626 others(680): Show c.626+5434_626+5435insAGTGTATATATACACATATAAAATATAT ATACATATGTTTTATAAGTGTATATATACACATAAAATATATATACATAT GTTTTATATGTGTATATATACACATAAAATATATATACATATGTTTTATA TGTGTATATATACACATATAAAATATATATACATATGTTTTATATGTGTA TATATACACATATAAAATATATATACATATGTTTTATATGTGTATATATA CACATATAAAATATATATACATATGTTTTATATGTGTATATATACACATA TAAAATATATATACATATGTTTTATATGTGTATATATACACATATAAAAT ATATATACATATGTTTTATATGTATATATACATATAAAATATATATACAT ATGTTTTATATGTATATATACATATAAAATATATATACATATGTTTTATA TGTATATATATACATATAAAATATATATACATATAAAATATATACATATA AAATATATATACATATGTTTTATATGTATATATACATATAAAATATATAT ACATATGTTTTATATGTATATATACATATAAAACATATATACATATGTTT TATATGTATATATACATATAAATATATATACATATGTTTTATATGTATAT ATATACATAGAAAATATATATACATATGTTTTATA	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLC19A1_chr21_45507565_45547440	45531209	G G	GGGGGAGC others(656): Show GGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGA GCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCC TGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCTGGGGA AGGATCCACGGGGCAGGGGGGAGGGTGGCGGGGAGCCTCCGGGGGAAGGA TCCACGGGGCAGGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCAC GGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGGGCA GGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGC GGGGAGGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGCGGGGAG GGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAG CCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCT GGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAA GGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCC ACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGGG CAGGGGGAGGTGGC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0115 a0001c0001t0003g0115	1	318	0.0031	663	c.949 others(678): Show c.949+179_949+180insGCCACCTCCCCCTGCCCCGTGGATCCTTCC CCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGA GGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCC CCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCAGGAGGCTCCCCGCCA CCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCGCCACCTCCC CCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCCTCCCCGCCCCCTGCC CCGTGGATCCTTCCCCCGGAGGCTCCCCCTCCCCGCCCCCTGCCCCGTGG ATCCTTCCCCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTT CCCCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCG GAGGCTCCCCGCCACCTCCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGC TCCCCGCCACCCTCCCCCCTGCCCCGTGGATCCTTCCCCAGGAGGCTCCC CGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCAGGAGGCTCCCCGCCAC CTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCGCCACCTCCCC CTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCC	SLC19A1	ENSG00000173638.19	transcript	ENST00000311124.9	protein_coding	3/5			chr21	TogoVar
SLC19A1_chr21_45507565_45547440	45531209	G G	GGGGGAGC others(656): Show GGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGGAGGTGGCGGGG AGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTC CTGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCTGGGG AAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGAT CCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGG GGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGG GGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGCGG GGAGGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGCGGGGAGGG GGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGGAGGTGGCGGGGAGC CTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCTG GGGAAGGATCCACGGGGCAGGGGGAGGGTGGCGGGGAGCCTCCGGGGGAA GGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCC ACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGGG CAGGGGGAGGTGGC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0071 a0001c0001t0014g0071	1	318	0.0031	663	c.949 others(678): Show c.949+179_949+180insGCCACCTCCCCCTGCCCCGTGGATCCTTCC CCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGA GGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCC CCGCCACCCTCCCCCTGCCCCGTGGATCCTTCCCCAGGAGGCTCCCCGCC ACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCGCCACCTCC CCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCCTCCCCGCCCCCTG CCCCGTGGATCCTTCCCCCGGAGGCTCCCCCTCCCCGCCCCCTGCCCCGT GGATCCTTCCCCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCC TTCCCCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCC CGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGG CTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCAGGAGGCTCCCC GCCACCTCCCCCTGCCCCGTGGATCCTTCCCCAGGAGGCTCCCCGCCACC TCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCGCCACCTCCCCC CTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCC	SLC19A1	ENSG00000173638.19	transcript	ENST00000311124.9	protein_coding	3/5			chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46169626	G G	GCCCCTGC others(656): Show GCCCCTGCTCTGTGAGCATCCTCTGTGGATGGGGAGGAGCCTCTGCTCTG TGAGCATCCTCTGTGGATGGGGAGGAGCCTCCTGCTTTGTGAGCATCCTC TGTGGATGGGGAGGAGCCCCTGCTCTGTGAGCATCCTCTGTGGATGGGGA GGAGCCTCCTGCTCTGTGAGCATCCTCTGTGGATGGGGAGGAGCCCCCCG CTCTGTGAACATCCTCTGTGGATGGGGAGGAGCCCCCTACTCTGTGAACA TCCTCTGTGGATGGGGAGGAGCCTCCTGCTCTGTGAGCATCCTCGTGGAT GGGGAGGAGCCCCCTGCTCTGTGAACATCCTCTGTGGATGGGGAGGAGCC TCCCTGCTCTGTGAGCATCCTCTGTGGATGGGGAGGAGCCTCCTGCTCTG TGAGCATCCTCTGTGGATGGGGAGGAGCCTCCCTGCTCTGTGAGCATCCT CTGTGGATGGGGAGGAGCCTCCTGCTCTGTGAGCATCCTCTGTGGTCCAG GAGGAGCCTCCTGCTCTGTGAACATCCTCTGTGGATGGGGAGGAGCCTCC CTGCTCTGTGAGCATCCTCTGTGGATGGGGAGGAGCCTCCTGCTCTGTGA GCATCCTCTGTGGTCCAGGAGGAGCCTCCTGCTCTGTGAACATCCTCTGT GGATGTGGAGGAGC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	251	0.0040	663	c.194 others(678): Show c.194-969_194-968insGCTCCTCCACATCCACAGAGGATGTTCACA GAGCAGGAGGCTCCTCCTGGACCACAGAGGATGCTCACAGAGCAGGAGGC TCCTCCCCATCCACAGAGGATGCTCACAGAGCAGGGAGGCTCCTCCCCAT CCACAGAGGATGTTCACAGAGCAGGAGGCTCCTCCTGGACCACAGAGGAT GCTCACAGAGCAGGAGGCTCCTCCCCATCCACAGAGGATGCTCACAGAGC AGGGAGGCTCCTCCCCATCCACAGAGGATGCTCACAGAGCAGGAGGCTCC TCCCCATCCACAGAGGATGCTCACAGAGCAGGGAGGCTCCTCCCCATCCA CAGAGGATGTTCACAGAGCAGGGGGCTCCTCCCCATCCACGAGGATGCTC ACAGAGCAGGAGGCTCCTCCCCATCCACAGAGGATGTTCACAGAGTAGGG GGCTCCTCCCCATCCACAGAGGATGTTCACAGAGCGGGGGGCTCCTCCCC ATCCACAGAGGATGCTCACAGAGCAGGAGGCTCCTCCCCATCCACAGAGG ATGCTCACAGAGCAGGGGCTCCTCCCCATCCACAGAGGATGCTCACAAAG CAGGAGGCTCCTCCCCATCCACAGAGGATGCTCACAGAGCAGAGGCTCCT CCCCATCCACAGAGGATGCTCACAGAGCAGGGG	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding	2/4			chr21	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(656): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG AGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGT TGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCCAG CGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTG GAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG GCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTT GCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGGGGCCCA GCGGGGGTGGAGTTGCCTGTGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG TGGGGGGGGGCCCAGCAGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGG GGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	422	0.0024	663	c.64 others(674): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCA ACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC CCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCAC CCCCGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCC CAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGC TGGGCCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCCAGGCAA CCCCATCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCT CCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCAC CCCCGCTGGGCACCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCC CCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCAGGCAACCCCAC CCCCGCTGGGCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAG GCAACTCCACCCCCGCTGGGCCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(656): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG AGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGT TGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCCAG CGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTG GAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG GCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTT GCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGGGGCCCA GCGGGGGTGGAGTTGCCTGTGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGG GGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	422	0.0024	663	c.64 others(674): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCA ACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC CCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCAC CCCCGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCC CAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGC TGGGCCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCCAGGCAA CCCCATCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCT CCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCAC CCCCGCTGGGCACCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCC CCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCAGGCAACCCCAC CCCCGCTGGGCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAG GCAACTCCACCCCCGCTGGGCCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(656): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGA GGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGGGGGAGGAAAG GAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGA GGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGG GAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGAAAGGA AGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGG GAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGG GGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAG GAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGA GGGAGGGAGGAAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAG GAGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0316 a0001c0001t0005g0316	1	322	0.0031	663	c.597 others(680): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCCTTTCCTCCCTC CCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCC TCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTC CTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCC TCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTC CTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCT TCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTT CCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCCCC TCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCCTCCTTCCTTTCCTC CCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCC TCCCTCCTTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTC CTTTCCTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCT TTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
SUFU_chr10_102498972_102638535	102637474	A A	ATTATATA others(656): Show ATTATATATTATATAACTATATATTATATATAATATATATATTATATATT ATATAACTATATATTATATATAATATATATATTATATATTATATAACTAT ATATTATATATATTATATATATTATATATTATATAACTATATATTATATA TATTATATATTATATAACTATATATTATATATAATATATATATTATATAT TATATAACTATATATTATATATAATATATATATTATATAACTATATATTA TATATAATATATATATTATATATTATATAACTATATATTATATATAATAT ATATATTATATATTATATAACTATATATTATATATAATATATATATTATA TATTATATAACTATATATTATATATAATATATATATTATATATTATATAA CTATATATTATATATAATATATATATTATATATTATATAACTATATATTA TATATAATATATATATTATATATTATATAACTATATATTATATATAATAT ATATATTATATATTATATAACTATATATTATATATAATATATATATTATA TATTATATAACTATATATTATATATAATATATATATTATATATTATATAA CTATATATTATATATAATATATATATTATATATAATATAACTATATATTA TATATAATATATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01099.hp2 HG02698.hp1 HG01070.hp2 HG01099.hp2 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0264 a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0001t0003g0264 a0001c0001t0003g0266 a0001c0001t0003g0267	3	268	0.0112	663	c.73 others(674): Show c.7319_*7320insTTATATATTATATAACTATATATTATATATAATA TATATATTATATATTATATAACTATATATTATATATAATATATATATTAT ATATTATATAACTATATATTATATATATTATATATATTATATATTATATA ACTATATATTATATATATTATATATTATATAACTATATATTATATATAAT ATATATATTATATATTATATAACTATATATTATATATAATATATATATTA TATAACTATATATTATATATAATATATATATTATATATTATATAACTATA TATTATATATAATATATATATTATATATTATATAACTATATATTATATAT AATATATATATTATATATTATATAACTATATATTATATATAATATATATA TTATATATTATATAACTATATATTATATATAATATATATATTATATATTA TATAACTATATATTATATATAATATATATATTATATATTATATAACTATA TATTATATATAATATATATATTATATATTATATAACTATATATTATATAT AATATATATATTATATATTATATAACTATATATTATATATAATATATATA TTATATATTATATAACTATATATTATATATAATATATATATTATATATAA TATAACTATATATTATATATAATATATAG	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3940		chr10	TogoVar
TERT_chr5_1248167_1300068	1273296	C C	CCACATCA others(656): Show CCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCAC GACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGT CACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACC CCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCACCATC CACAGTCACCACATCAGACCCCCGGGACCAACCGCCATCCACAGTCACCA CACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCA CGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCAC AGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATC AGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCTGTGACC AACCGCCATCCACAGTCACCACACATCAGACCCCCGTGACCAACCGCCAT CCACAGTCACCACACATCAGACCCCCGTGATCGACCGCCATCCACAGTCA CCACACATCAGACCCCACGACCACCATCCACAGTCACCACATCAGACCCC CGGGACCAACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCC ATCCACAGTCACCA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0190 a0001c0008t0002g0190	1	392	0.0026	663	c.228 others(682): Show c.2287-1017_2287-1016insTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGTGGTGACTGTGGATGGCGGTTGGTCCCGGGGGTCTGATGT GGTGACTGTGGATGGTGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATG GCGGTCGATCACGGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTTGGT CACGGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTTGGTCACAGGGGT CTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGT CGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATG TGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGG ATGGCGGTTGGTCCCGGGGGTCTGATGTGGTGACTGTGGATGGTGGTCGT GGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGT GGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGC GGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGAT GTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TLL2_chr10_96359608_96518926	96415729	G G	GTCTCTCT others(656): Show GTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTCCTGTCTCTCTCTCTCTC TGTCTCTCTCTCTGTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCCTCT CTCTGTCTCTCTCTTCTCTCGTCTCTCTCTCTGTCTCTCTCTCTGTCTCT CTCCTCTGTCTCCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCT GTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCCTCTCTCTCTGTCTCTCTC TCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGACTCTCTCTCTCTCTC TCTCTCTGTCTCTGTCCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCT TTTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTC TGTCTCTTTCTCTCTCTCTCTCTCTCTGTCTCTCTCTGTCTCTTTCTCTC TGTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTC TCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTC TCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTC TCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTGTCTCTCTCTCTGTC TCTCTCTCTCTGTC	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	256	0.0039	663	c.924 others(680): Show c.924-2414_924-2413insGACAGAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGA GACAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAAAGAGACAGA GAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAGAGAGAAAGAGA CAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGACAGAGAGAAAGAGACA GAGAGAGACAGAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGA GAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAAAAGACAGAGAGAGAG AGACAGAGAGAGAGAGAGAGGACAGAGACAGAGAGAGAGAGAGAGAGAGA GTCAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGA GAGAGGACAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAG AGAGAGAGAGAGACAGAGAGAGAGGAGACAGAGGAGAGAGACAGAGAGAG AGACAGAGAGAGAGACGAGAGAAGAGAGAGACAGAGAGAGGAGAGAGACA GAGAGAGAGAGACAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGAGA CAGGAGAGAGAGAGAGAGAGAGAGACAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TMPRSS9_chr19_2355265_2431261	2418794	T T	TCCTTCCC others(656): Show TCCTTCCCTTCTCTCCCTCCCTTTCCTTCCCTTCCCTCCCTCCCTTTCAT TCCCTCCCTCCCTTTCCTCCCCTTCCCTCCCTCCCTTTCCTCCCCTTCCC TCCCTCCCTTTCCTTCCCTCCATCCCTTTCCTTCCCTTCCCTTCCCTCCC TCCCTTTCCTTTCCTTCTCTCCTTCCCTTTCCTCCCTCCACTTCCTTCCC TCCCTCTTTCCTTCCCTGCCTTCCCTCCCTACCTCCCCTGCCTTCCCTCC CTACCTCCCCTTCCCTCCCTACCTCCCCTTCCCTCCCTACCTCCCCTTCC CTCCCTACCTCTCCTTTCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCC CTACCTCTCCTTTCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTAC GTCTCCTTTCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCT CCTTCCCTTCCCTCCCCACCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTC TCCTTCCCTTCCCTCCCCACCCTCCCTCTCCTTCCCTCCCCACCCTCCCT CTCCTTCCCTTCCCTCCCCACCCTCCCTCCCCTTCCCACCCTCCCTCCCT CTCCTTCCCTTTCCTCCCTCTCTCTCCTTCCCTTCCCTCCCTCCCTCCCT TTCCTTCCCCCATC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	114	0.0088	663	c.215 others(680): Show c.2154+660_2154+661insCCCTTCTCTCCCTCCCTTTCCTTCCCTT CCCTCCCTCCCTTTCATTCCCTCCCTCCCTTTCCTCCCCTTCCCTCCCTC CCTTTCCTCCCCTTCCCTCCCTCCCTTTCCTTCCCTCCATCCCTTTCCTT CCCTTCCCTTCCCTCCCTCCCTTTCCTTTCCTTCTCTCCTTCCCTTTCCT CCCTCCACTTCCTTCCCTCCCTCTTTCCTTCCCTGCCTTCCCTCCCTACC TCCCCTGCCTTCCCTCCCTACCTCCCCTTCCCTCCCTACCTCCCCTTCCC TCCCTACCTCCCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTACCT CTCCTTTCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTACCTCTCC TTTCCTTCCCTCCCTACGTCTCCTTTCCTTCCCTCCCTCCCTCTCCTTCC CTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCTCCTTC CCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCTCCTT CCCTCCCCACCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCCCCT TCCCACCCTCCCTCCCTCTCCTTCCCTTTCCTCCCTCTCTCTCCTTCCCT TCCCTCCCTCCCTCCCTTTCCTTCCCCCATCCCTT	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TOP1MT_chr8_143304324_143339880	143321834	A A	ACACGCCA others(656): Show ACACGCCACACACACGCCACACACACAGGCACGCCACACACACACAGGCA CGCCACACGCACGCCACACACGCATGCCACACACACGCACGCCACACACG CATGCCACACACAGCCACGCCACACACACACGCCACACACACACAGGCAC GCCACACACGCACGCCACACACACGCATGCCACACACACGCCACACACAC AGGCACGCCACACACAGGCACGCCACACACGCACGCCACACACGCACGCC ACACACGCACGCCACACACAGGCACGCCACACACGCACGCCACACACACG CACGCCACACACACGCACGCCACACACACACGCACGCCACAAACGCACGC CACACACGCACGCCACACACGCACGCCAGCCACACACGCACGCCACACAC GAACGCCACACAAACGCCACACACACGAATGCCACACGCACACCACACAC GCACGCCACACACGCACGCCACACACGCACGCCACACACAGGCATGCCAC ACACATGCACGCCACACACAGGCACGCCACACACGCACGCCACACACAGG CATGCCAAACACGCACGCCACACATGCATGCCACACACACAGGCACACCA CACACAGGCACGCCACACACACAGGCACGCCACACACATGCACGCCACAC ACGCACGCCACACG	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	430	0.0023	663	c.961 others(678): Show c.961-449_961-448insCGTGTGGCGTGCGTGTGTGGCGTGCATGTG TGTGGCGTGCCTGTGTGTGTGGCGTGCCTGTGTGTGGTGTGCCTGTGTGT GTGGCATGCATGTGTGGCGTGCGTGTTTGGCATGCCTGTGTGTGGCGTGC GTGTGTGGCGTGCCTGTGTGTGGCGTGCATGTGTGTGGCATGCCTGTGTG TGGCGTGCGTGTGTGGCGTGCGTGTGTGGCGTGCGTGTGTGGTGTGCGTG TGGCATTCGTGTGTGTGGCGTTTGTGTGGCGTTCGTGTGTGGCGTGCGTG TGTGGCTGGCGTGCGTGTGTGGCGTGCGTGTGTGGCGTGCGTTTGTGGCG TGCGTGTGTGTGTGGCGTGCGTGTGTGTGGCGTGCGTGTGTGTGGCGTGC GTGTGTGGCGTGCCTGTGTGTGGCGTGCGTGTGTGGCGTGCGTGTGTGGC GTGCGTGTGTGGCGTGCCTGTGTGTGGCGTGCCTGTGTGTGTGGCGTGTG TGTGGCATGCGTGTGTGTGGCGTGCGTGTGTGGCGTGCCTGTGTGTGTGT GGCGTGTGTGTGTGGCGTGGCTGTGTGTGGCATGCGTGTGTGGCGTGCGT GTGTGTGGCATGCGTGTGTGGCGTGCGTGTGGCGTGCCTGTGTGTGTGTG GCGTGCCTGTGTGTGTGGCGTGTGTGTGGCGTG	TOP1MT	ENSG00000184428.13	transcript	ENST00000329245.9	protein_coding	7/13			chr8	TogoVar
TP53AIP1_chr11_128930370_128947871	128930685	G G	GGTTAGGG others(656): Show GGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTA GGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGA GGCTGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGC CGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGG TTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTA GGGAGGCCGGGGTTAGAGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGA GGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCC GGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGG GTTAGGGAGGCCGGGGTTAGAGAGGCCAGGGGTTAGGGAGGCCAGGGTAG GGAGGCTGGGGGTTAGGAAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGA GGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCC GGGGTTAGAGAGGCCAGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGG TTAGGAAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGGTTA GGGAGGCCAGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01978.hp2 HG01069.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0001 a0001c0001t0011g0041 a0001c0001t0001g0001 a0001c0001t0011g0041	2	466	0.0043	663	c.49 others(674): Show c.4905_*4906insACCCCTGGCCTCCCTAACCCCTGGCCTCCCTGAC CCTTGGTCTCCCTAACCCCGGCCTTCCTAACCCCCAGCCTCCCTACCCTG GCCTCCCTAACCCCTGGCCTCTCTAACCCCGGCCTCCCTAACCCCGGCCT CCCTAACCCCGGCCTCCCTAACCCCTGGCCTCCCTGACCCTTGGTCTCCC TAACCCCGGCCTTCCTAACCCCCAGCCTCCCTACCCTGGCCTCCCTAACC CCTGGCCTCTCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTG GCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCCCTAACCCCGGCCT CCCTAACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCC TAACCCCGGCCTCTCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATC CCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCCCTAACCCCG GCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGGCCT CCCTGACCCTTGGTCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCT AACCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACC CCGGCCTCCCTAACCCCAGCCTCCCTAAC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4684		chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507456	A A	ATATGTAT others(656): Show ATATGTATATATACATGTATTATACATACGTAAATGTATATATGTATATA TACATGTATTATACATACGTAAATGTATATATGTATATATATGTATTATA CATACGTAAATGTATATATGTATATATACATGTATTATACATACGTAAAT GTATATATGTATATATACATGTATTATACATACGTAAATGTATATATGTA TATATACATGTATTATACATACGTAAATGTATAATGTATATATACATGTA TTATACATACGTAAATGTATAATGTATATATACATTATACATACGTAAAT GTATAATGTATATATACATTATACATACGTAAATGTATAATGTATATATA CATTATACATACGTAAATGTATAATGTATATATACATTATACATACGTAA ATGTATAATGTATATATACATTATACATACGTAAATGTATAATGTATATA TACATTATACATACGTAAATGTATAATGTATATATACATTATACATACGT AAATGTATAATGTATATATACATTATACATACGTAAATGTATAATGTATA TATACATTATACATACGTAAATGTATAATGTATATATACATTATACATAC GTAAATGTATAATGTATATATACATTATACATACGTAAATGTATTATACA TAAATGTATATATG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0235 a0001c0001t0009g0235	1	388	0.0026	663	c.-23 others(680): Show c.-23+2591_-23+2592insCATATATACATTTATGTATAATACATTT ACGTATGTATAATGTATATATACATTATACATTTACGTATGTATAATGTA TATATACATTATACATTTACGTATGTATAATGTATATATACATTATACAT TTACGTATGTATAATGTATATATACATTATACATTTACGTATGTATAATG TATATATACATTATACATTTACGTATGTATAATGTATATATACATTATAC ATTTACGTATGTATAATGTATATATACATTATACATTTACGTATGTATAA TGTATATATACATTATACATTTACGTATGTATAATGTATATATACATTAT ACATTTACGTATGTATAATGTATATATACATTATACATTTACGTATGTAT AATGTATATATACATTATACATTTACGTATGTATAATACATGTATATATA CATTATACATTTACGTATGTATAATACATGTATATATACATATATACATT TACGTATGTATAATACATGTATATATACATATATACATTTACGTATGTAT AATACATGTATATATACATATATACATTTACGTATGTATAATACATATAT ATACATATATACATTTACGTATGTATAATACATGTATATATACATATATA CATTTACGTATGTATAATACATGTATATATACATA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRIO_chr5_14138342_14515204	14347035	T T	TGGACCTG others(656): Show TGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAG GCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCA GGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTC AGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCT CAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATC TCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCAT CTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCA TCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTC ATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGT CATCTCAGGCGGACGTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAG TCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCA GTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACC AGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGAC CAGTCATCTCAGGC	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0017 a0001c0002t0001g0017	1	198	0.0051	663	c.204 others(684): Show c.2046+10613_2046+10614insCGGACCTGAGGTCCTGCAGAACAG AGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACA GAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAAC AGAGATGATGCTGGACCAGTCATCTCAGGCGGACGTGAGGTCCTGCAGAA CAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGA ACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAG AACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCA GAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGC AGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTG CAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCT GCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCC TGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTC CTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGT CCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGG	TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding	11/56		INFO_REALIGN_3_PRIME	chr5	TogoVar
VAMP2_chr17_8154149_8167948	8166152	G G	GGCGCAGT others(656): Show GGCGCAGTGGTTCAGGCCTGTAATCCCAGCACTTTGGGAGGCGGAGGCGG GTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAA CCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCA CCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCTGGAGAATGGCGTGAACC CGGGAGGCGGAGCTTGCAGTGAGCAGAGATAGCACCACTGCACTCCAGCC TGGGCTACAGAGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA AGAAAGAAAGGAGCTGGGTCGTTCCCACACTGACTCATGAACTTGCTTCA TCCACATGAATCAAACCTGACTGAACTTATAATTAATTTCAGAGGCCTGT GTGTCCCTCAGTGCAGCTTGTGAAGTAAAGGCCTTCTAATGAGTAATAGA AAGGTCAGCCCTCCACCATTGCAATCAGCTGTGACGTCTGGTGAACCCTC CAGGCCACAAGGTTCTCAGAGCTGCCTGTCCAGCTCTGGGCTCCTGGAAG GAGGGGACACTCCAGGGACCCACTGTGTGCCAGACAGTTGGCATGGATTG CCACATGTGCTCAATTTGTTTTTATTTTTACTTATTTTTGAGACGAAGTC TCACTCTTTCGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	414	0.0024	663	c.-32 others(674): Show c.-3274_-3273insTGGCGAAAGAGTGAGACTTCGTCTCAAAAATAAG TAAAAATAAAAACAAATTGAGCACATGTGGCAATCCATGCCAACTGTCTG GCACACAGTGGGTCCCTGGAGTGTCCCCTCCTTCCAGGAGCCCAGAGCTG GACAGGCAGCTCTGAGAACCTTGTGGCCTGGAGGGTTCACCAGACGTCAC AGCTGATTGCAATGGTGGAGGGCTGACCTTTCTATTACTCATTAGAAGGC CTTTACTTCACAAGCTGCACTGAGGGACACACAGGCCTCTGAAATTAATT ATAAGTTCAGTCAGGTTTGATTCATGTGGATGAAGCAAGTTCATGAGTCA GTGTGGGAACGACCCAGCTCCTTTCTTTCTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCTCTGTAGCCCAGGCTGGAGTGCAGTGGTGCT ATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCAGC CTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGC TAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGA TGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCCGCCTCCCAAAGT GCTGGGATTACAGGCCTGAACCACTGCGC	VAMP2	ENSG00000220205.10	transcript	ENST00000316509.11	protein_coding		3205		chr17	TogoVar
VAMP2_chr17_8154149_8167948	8166152	G G	GGCGCAGT others(656): Show GGCGCAGTGGTTCAGGCCTGTAATCCCAGCACTTTGGGAGGCGGAGGCGG GTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAA CCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCA CCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCTGGAGAATGGCGTGAACC CGGGAGGCGGAGCTTGCAGTGAGCAGAGATCGCACCACTGCACTCCAGCC TGGGCTACAGAGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA AAGAAAGAAAGGAGCTGGGTCGTTCCCACACTGACTCATGAACTTGCTTC ATCCACATGAATCAAACCTGACTGAACTTATAATTAATTTCAGAGGCCTG TGTGTCCCTCAGTGCAGCTTGTGAAGTAAAGGCCTTCTAATGAGTAATAG AAAGGTCAGCCCTCCACCATTGCAATCAGCTGTGACGTCGGTGAACCCTC CAGGCCACAAGGTTCTCAGAGCTGCCTGTCCAGCTCTGGGCTCCTGGAAG GAGGGGACACTCCAGGGACCCACTGTGTGCCAGACAGTTGGCATGGATTG CCACATGTGCTCAATTTGTTTTTATTTTTACTTATTTTTGAGACGAAGTC TCACTCTTTCGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0044 a0001c0001t0026g0044	1	414	0.0024	663	c.-32 others(674): Show c.-3274_-3273insTGGCGAAAGAGTGAGACTTCGTCTCAAAAATAAG TAAAAATAAAAACAAATTGAGCACATGTGGCAATCCATGCCAACTGTCTG GCACACAGTGGGTCCCTGGAGTGTCCCCTCCTTCCAGGAGCCCAGAGCTG GACAGGCAGCTCTGAGAACCTTGTGGCCTGGAGGGTTCACCGACGTCACA GCTGATTGCAATGGTGGAGGGCTGACCTTTCTATTACTCATTAGAAGGCC TTTACTTCACAAGCTGCACTGAGGGACACACAGGCCTCTGAAATTAATTA TAAGTTCAGTCAGGTTTGATTCATGTGGATGAAGCAAGTTCATGAGTCAG TGTGGGAACGACCCAGCTCCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCTCTGTAGCCCAGGCTGGAGTGCAGTGGTGCG ATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCAGC CTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGC TAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGA TGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCCGCCTCCCAAAGT GCTGGGATTACAGGCCTGAACCACTGCGC	VAMP2	ENSG00000220205.10	transcript	ENST00000316509.11	protein_coding		3205		chr17	TogoVar
VAMP2_chr17_8154149_8167948	8166152	G G	GGCGCAGT others(656): Show GGCGCAGTGGTTCAGGCCTGTAATCCCAGCACTTTGGGAGGCGGAGGCGG GTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAA CCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCA CCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCTGGAGAATGGCGTGAACC CGGGAGGCGGAGCTTGCAGTGAGCAGAGATCGCACCACTGCACTCCAGCC TGGGCTACAGAGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA AGAAAGAAAGGAGCTGGGTCGTTCCCACACTGACTCATGAACTTGCTTCA TCCACATGAATCAAACCTGACTGAACTTATAATTAATTTCAGAGGCCTGT GTGTCCCTCAGTGCAGCTTGTGAAGTAAAGGCCTTCTAATGAGTAATAGA AAGGTCAGCCCTCCACCATTGCAATCAGCTGTGACGTCTGGTGAACCCTC CAGGCCACAAGGTTCTCAGAGCTGCCTGTCCAGCTCTGGGCTCCTAGAAG GAGGGGACACTCCAGGGACCCACTGTGTGCCAGACAGTTGGCATGGATTG CCACATGTGCTCAATTTGTTTTTATTTTTACTTATTTTTGAGACGAAGTC TCACTCTTTCGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	414	0.0024	663	c.-32 others(674): Show c.-3274_-3273insTGGCGAAAGAGTGAGACTTCGTCTCAAAAATAAG TAAAAATAAAAACAAATTGAGCACATGTGGCAATCCATGCCAACTGTCTG GCACACAGTGGGTCCCTGGAGTGTCCCCTCCTTCTAGGAGCCCAGAGCTG GACAGGCAGCTCTGAGAACCTTGTGGCCTGGAGGGTTCACCAGACGTCAC AGCTGATTGCAATGGTGGAGGGCTGACCTTTCTATTACTCATTAGAAGGC CTTTACTTCACAAGCTGCACTGAGGGACACACAGGCCTCTGAAATTAATT ATAAGTTCAGTCAGGTTTGATTCATGTGGATGAAGCAAGTTCATGAGTCA GTGTGGGAACGACCCAGCTCCTTTCTTTCTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCTCTGTAGCCCAGGCTGGAGTGCAGTGGTGCG ATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCAGC CTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGC TAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGA TGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCCGCCTCCCAAAGT GCTGGGATTACAGGCCTGAACCACTGCGC	VAMP2	ENSG00000220205.10	transcript	ENST00000316509.11	protein_coding		3205		chr17	TogoVar
VAMP2_chr17_8154149_8167948	8166152	G G	GGCGCAGT others(656): Show GGCGCAGTGGTTCAGGCCTGTAATCCCAGCACTTTGGGAGGCGGAGGCGG GTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAA CCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCA CCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCTGGAGAATGGCGTGAACC CGGGAGGCGGAGCTTGCAGTGAGCAGAGATCGCACCACTGCACTCCAGCC TGGGCTACAGAGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA AGAAAGAAAGGAGCTGGGTCGTTCCCACACTGACTCATGAACTTGCTTCA TCCACATGAATCAAACCTGACTGAACTTATAATTAATTTCAGAGGCCTGT GTGTCCCTCAGTGCAGCTTGTGAAGTAAAGGCCTTCTAATGAGTAATAGA AAGGTCAGCCCTCCACCATTGCAATCAGCTGTGACGTCTGGTGAACCCTC CAGGCCACAAGGTTCTCAGAGCTGCCTGTCCAGCTCTGGGCTCCTGGAAG GAGGGGACACTCCAGGGACCCACTGTGTGCCAGACAGTTGGCATGGATTG CCACATGTGCTCAATTTGTTTTTATTTTTACTTATTTTTGAGACGAAGTC TCACTCTTTCGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00423.hp2 others(199): Show HG00099.hp1 HG00099.hp2 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01257.hp1 HG01258.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02040.hp2 HG02055.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02293.hp2 HG02486.hp1 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03669.hp1 HG03688.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18960.hp2 NA18961.hp2 NA18964.hp2 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18989.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19059.hp2 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19091.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0033 a0001c0001t0036 a0001c0001t0039 a0001c0001t0047 a0001c0001t0051 a0001c0001t0052 a0001c0001t0054 a0001c0001t0059 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0066	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0002g0002 others(43): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0002g0002 a0001c0001t0003g0003 a0001c0001t0003g0059 a0001c0001t0003g0086 a0001c0001t0004g0004 a0001c0001t0005g0005 a0001c0001t0006g0008 a0001c0001t0007g0007 a0001c0001t0008g0011 a0001c0001t0009g0009 a0001c0001t0009g0043 a0001c0001t0010g0010 a0001c0001t0011g0012 a0001c0001t0011g0047 a0001c0001t0011g0057 a0001c0001t0012g0015 a0001c0001t0013g0014 a0001c0001t0013g0038 a0001c0001t0014g0013 a0001c0001t0015g0025 a0001c0001t0015g0035 a0001c0001t0016g0016 a0001c0001t0018g0018 a0001c0001t0019g0020 a0001c0001t0020g0019 a0001c0001t0021g0021 a0001c0001t0021g0054 a0001c0001t0025g0024 a0001c0001t0027g0027 a0001c0001t0028g0028 a0001c0001t0029g0026 a0001c0001t0033g0034 a0001c0001t0036g0050 a0001c0001t0039g0046 a0001c0001t0047g0070 a0001c0001t0051g0074 a0001c0001t0052g0075 a0001c0001t0054g0076 a0001c0001t0059g0079 a0001c0001t0061g0080 a0001c0001t0062g0081 a0001c0001t0063g0082 a0001c0001t0064g0083 a0001c0001t0066g0085	202	414	0.4879	663	c.-32 others(674): Show c.-3274_-3273insTGGCGAAAGAGTGAGACTTCGTCTCAAAAATAAG TAAAAATAAAAACAAATTGAGCACATGTGGCAATCCATGCCAACTGTCTG GCACACAGTGGGTCCCTGGAGTGTCCCCTCCTTCCAGGAGCCCAGAGCTG GACAGGCAGCTCTGAGAACCTTGTGGCCTGGAGGGTTCACCAGACGTCAC AGCTGATTGCAATGGTGGAGGGCTGACCTTTCTATTACTCATTAGAAGGC CTTTACTTCACAAGCTGCACTGAGGGACACACAGGCCTCTGAAATTAATT ATAAGTTCAGTCAGGTTTGATTCATGTGGATGAAGCAAGTTCATGAGTCA GTGTGGGAACGACCCAGCTCCTTTCTTTCTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCTCTGTAGCCCAGGCTGGAGTGCAGTGGTGCG ATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCAGC CTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGC TAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGA TGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCCGCCTCCCAAAGT GCTGGGATTACAGGCCTGAACCACTGCGC	VAMP2	ENSG00000220205.10	transcript	ENST00000316509.11	protein_coding		3205		chr17	TogoVar
VCX3B_chrX_8459830_8471510	8466813	G G	GGGGAGGG others(656): Show GGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGA GGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA GGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGGGGAAG AGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAG GGAGGGGGGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTG TGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGGG GAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGA GGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTG TGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAG GAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGG GGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGA GGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGG GAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAG GTGGTGTGTGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0074 a0074	a0074c0091 a0074c0091	a0074c0091t0010 a0074c0091t0010	a0074c0091t0010g0012 a0074c0091t0010g0012	1	271	0.0037	663	c.43 others(672): Show c.430_*431insGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGG AGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGA GGGAGGGGGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTG TGTGGGGAGGGAGGGAGGGGGGGAAGAGGAGGTGTGTGGGGAGGGAGGGA GGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGA GGGAGGGAGGGGGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAG AGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGA GGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA GGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAG AGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAG GGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTG GTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGG GAGGGAGGAAGAGGTGGTGTGTGGGGA	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		304		chrX	TogoVar
WDR64_chr1_241647281_241807777	241675123	C C	CCTTCCTT others(656): Show CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCT CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCTTCCTTCCTCCCTC CCTCCCTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCT CCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTT CCTCCCTCCCTCCTTCCTTCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTC CTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCC TCCCTCCCTTCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCT TCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCT CCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTT CCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTC CTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTTCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCC TTCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0206 a0001c0001t0003g0206	1	326	0.0031	663	c.483 others(678): Show c.483+381_483+382insTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTTCCTTCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC TTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTTCCTTCCTCCCTCC CTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCTTCCTTCC TCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCT TCCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCT CCCTCCTTCCTTCCTCCCTCCCTTCTTCCTTCCTCCCTCCCTCCTTCCTT CCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTC CTTCCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCC TTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTTCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTTCTTCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZFPM1_chr16_88448280_88542031	88501251	A A	ACTGGTGA others(656): Show ACTGGTGATGATGGAGATAGCGGTCATGGATGCGGGGGCCATCCCGCCAG TGCTGGTGATGATGGAGATAGCAGACATGGGTGTGTGGGCCCTCCCGCAG GTGCTGGTGATGATGGAGATAGCGGGTGTGGGTGCATGGGCTCTCCCGCA GGTACTGGTGATGATGGAGATAGCGGTCATGGATGCGGGGGCCATCCCGC CAGTGCTGGTGATGATGGAGATAGCAGACATGGGTGTGTGGGCCCTCCCG CAGGTGCTGGTGATGATGGAGATAGCGGTCATGGATGCGGGGGCCATCCC GCCAGTGCTGGTGATGATGGAGATAGCAGACATGGGTGCGGGGGCTCTCC CGCAGGTGCTGGTGATGATGGAGATAGCGGGTGTGGGTGCGTGGGCTCTC CCGCAGGTGCTGGTGGTGATGGAGATAGCAGACATGGGTGTGTGGGCCCT CCCGCAGGTACTGGTGATGATGGAGATAGCGGTCATGGATGCGGGGGCCA TCCCGCCAGTGCTGGTGATGATGGAGATAGCAGACATGGGTGCGGGGGCT CTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGTGCGGGGGC CCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGTGCGTGGG CCATCCCGCAGGTG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0003 a0001c0013t0003	a0001c0013t0003g0169 a0001c0013t0003g0169	1	318	0.0031	663	c.268 others(682): Show c.268+12117_268+12118insCGGTCATGGATGCGGGGGCCATCCCG CCAGTGCTGGTGATGATGGAGATAGCAGACATGGGTGTGTGGGCCCTCCC GCAGGTGCTGGTGATGATGGAGATAGCGGGTGTGGGTGCATGGGCTCTCC CGCAGGTACTGGTGATGATGGAGATAGCGGTCATGGATGCGGGGGCCATC CCGCCAGTGCTGGTGATGATGGAGATAGCAGACATGGGTGTGTGGGCCCT CCCGCAGGTGCTGGTGATGATGGAGATAGCGGTCATGGATGCGGGGGCCA TCCCGCCAGTGCTGGTGATGATGGAGATAGCAGACATGGGTGCGGGGGCT CTCCCGCAGGTGCTGGTGATGATGGAGATAGCGGGTGTGGGTGCGTGGGC TCTCCCGCAGGTGCTGGTGGTGATGGAGATAGCAGACATGGGTGTGTGGG CCCTCCCGCAGGTACTGGTGATGATGGAGATAGCGGTCATGGATGCGGGG GCCATCCCGCCAGTGCTGGTGATGATGGAGATAGCAGACATGGGTGCGGG GGCTCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGTGCGG GGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGTGCG TGGGCCATCCCGCAGGTGCTGGTGATGATGGAGATAG	ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZNF627_chr19_11592483_11624161	11613137	C C	CCCTTCCC others(656): Show CCCTTCCCCCCTCCCCTCCCCTCCTTCCCCCCTCCCCTCCCCTCCTTCCC CCCTCCCCTCCTTCCCCCCTCCCCTCCCCTCCTTCCCCCCTCCCCTCCCC CTTCCTCATCCCCTTCCCCCCTCCCCTTCTTCCTCTCCTCCTCCCTCCCC CCTCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCCTCCTCCCCT TCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCTTCCCCTTCCTCCTC TCCTCCTCCCTCCCCTCCCCCCTCCCTCCCCTCCCCCTTCCCTCCTCCCT CCCCTCTCCCTTCCCTCCTTCCTCCCCTCCCCCTCCCCTACCCTCCTCCC TCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCCTCCTCCTCCCCCTCC CCTCCCCCTCCCCCTCCTCCCTTCCCCTCCTCCCTCCCCCCCCTCTCCCC TCCCCCTCTCCCTCTCCTCCCCTCCTCTTCCCCTCTCCTCCCCCTCCTCC CCCTCCCCTCCTCCCCTCTCCCCTCCCCTCCCCTTCCCTTCCCCTCTCCT CCCCTCCTCCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCATCTTCCCTC CCCTCTACTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCTGTCCC TCCCCTCTCCCCTT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0093 a0001c0001t0003g0093	1	322	0.0031	663	c.4-1 others(676): Show c.4-1388_4-1387insTTCCCCCCTCCCCTCCCCTCCTTCCCCCCTCC CCTCCCCTCCTTCCCCCCTCCCCTCCTTCCCCCCTCCCCTCCCCTCCTTC CCCCCTCCCCTCCCCCTTCCTCATCCCCTTCCCCCCTCCCCTTCTTCCTC TCCTCCTCCCTCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCC CCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCC TTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCCTCCCTCCCCTCCC CCTTCCCTCCTCCCTCCCCTCTCCCTTCCCTCCTTCCTCCCCTCCCCCTC CCCTACCCTCCTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCC TCCTCCTCCCCCTCCCCTCCCCCTCCCCCTCCTCCCTTCCCCTCCTCCCT CCCCCCCCTCTCCCCTCCCCCTCTCCCTCTCCTCCCCTCCTCTTCCCCTC TCCTCCCCCTCCTCCCCCTCCCCTCCTCCCCTCTCCCCTCCCCTCCCCTT CCCTTCCCCTCTCCTCCCCTCCTCCCCTCCCCTCCCCATCTTCCCTCCCC TCCCCATCTTCCCTCCCCTCTACTCCCGTCACCTGTCCCTCCCCTCTCCT CCCCTCACCTGTCCCTCCCCTCTCCCCTTCC	ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ABCB11_chr2_168915781_169036324	168975232	T T	TTTATATA others(657): Show TTTATATATTTATATATTTATATATTCATAGATAAATATATAAATATATA AATATTTTTATATTTATAGATAAATATATAAATATATAAATATTTTTATA TTTATAGATAAATATATAAATATATAAATATTTTTATATTTATAGATAAA TATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATT TATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATA TTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAA TATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATT TATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATA TTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAA TATATAAATATTTTTATATTTATAGATAAATATATAAATATTTATATATT TTTATATTTATAGATAAATATATAAATATTTATATATTTTTATATTTATA GATAAATATATAAATATTTATATATTTTTATATTTATAGATAAATATATA AATATTTATATATTTTTATATTTATAGATAAATATATAAATATTTATATA TTTTTATATTTATAG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02895.hp2 HG02976.hp1 HG02055.hp2 HG02895.hp2 HG02976.hp1	a0003 a0003	a0003c0018 a0003c0043 a0003c0018 a0003c0043	a0003c0018t0011 a0003c0018t0036 a0003c0043t0006 a0003c0018t0011 a0003c0018t0036 a0003c0043t0006	a0003c0018t0011g0034 a0003c0018t0036g0224 a0003c0043t0006g0033 a0003c0018t0011g0034 a0003c0018t0036g0224 a0003c0043t0006g0033	3	306	0.0098	664	c.130 others(683): Show c.1308+1344_1308+1345insCTATAAATATAAAAATATATAAATAT TTATATATTTATCTATAAATATAAAAATATATAAATATTTATATATTTAT CTATAAATATAAAAATATATAAATATTTATATATTTATCTATAAATATAA AAATATATAAATATTTATATATTTATCTATAAATATAAAAATATATAAAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAA ATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAA ATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAA ATATAAAAATATTTATATATTTATATATTTATCTATAAATATAAAAATAT TTATATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTAT ATATTTATCTATGAATATATAAATATATAAATATATAA	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCC6_chr16_16144565_16228494	16172204	A A	ATAAATGA others(657): Show ATAAATGAGTGGGTGGGATGCATAAATGAGTGGGTGGGATGCATAAATGA GGTGGGATGGATAAATGAGTGGGTGGGATAGATAAATGAGTGGGTGGGAT GGATAAATGAGGGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGAT AAATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGAGT GGGTGGGATGGATAAATGAGTGGGTGGGATGGATGGATAAATGAGTGGGT GGGATGGATAAATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGC TAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGATAAATGAG TGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGATAAATGAGTGGG TGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGG ATAAATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGATAAATGG GTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGG GATGGATGGATAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGATG GATAAATGGGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGATAAATG AGTGGGTGGGATGGC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	357	0.0028	664	c.278 others(683): Show c.2787+1079_2787+1080insGCCATCCCACCCACTCATTTATCCAT CCCACCCACTCATTTAGCCATCCCACCCACCCATTTATCCATCCCACCCA CTCATTTATCCATCCCACCCACTCATTTATCCATCCATCCCACCCACTCA TTTAGCCATCCCACCCACTCATTTAGCCATCCCACCCACCCATTTATCCA TCCCACCCACCCATTTATCCATCCCACCCACTCATTTATCCATCCCACCC ACTCATTTAGCCATCCCACCCACCCATTTATCCATCCCACCCACTCATTT ATCCATCCCACCCACTCATTTATCCATCCATCCCACCCACTCATTTATCC ATCCCACCCACTCATTTAGCCATCCCACCCACTCATTTAGCCATCCCACC CACCCATTTATCCATCCCACCCACTCATTTATCCATCCCACCCACTCATT TATCCATCCATCCCACCCACTCATTTATCCATCCCACCCACTCATTTAGC CATCCCACCCACCCATTTATCCATCCCACCCACTCATTTATCCATCCCAC CCACTCATTTATCCATCCATCCCACCCCCTCATTTATCCATCCCACCCAC TCATTTATCTATCCCACCCACTCATTTATCCATCCCACCTCATTTATGCA TCCCACCCACTCATTTATGCATCCCACCCACTCATTTA	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ACAP3_chr1_1287391_1312930	1288457	C C	CCGTGTCT others(657): Show CCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCCCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTC CCGTGTCTCTGCCCCGTCCCGTGTCCCTGCCCCGTCCCGTGTCCCTGCCC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	295	0.0034	664	c.51 others(675): Show c.5106_*5107insACGGAGCAGAGACACGGGACGGGGCAGAGACACG GGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGA CACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCA GGGACACGGGACGGAGCAGAGACACGGGACGGGGCAGGGACACGGGACGG GGCAGGGACACGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGG ACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACA CGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGA GACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAG CAGGGACACGGGACGGAGCAGAGACACGGGACGGGGCAGGGACACGGGAC GGGGCAGAGACACGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACG GGACGGAGCAGAGACACGGGACGGGGCAGAGACACGGGACGGGGCAGAGA CACGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCA GAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGGGACACGGGACGG AGCAGGGACACGGGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3933		chr1	TogoVar
ADAMTS17_chr15_99966437_100346975	100276412	G G	GGTGGGAG others(657): Show GGTGGGAGGGAGTGGGTGACTGGTGGGAGGGTGGGAGGGTGTGGGTGCCT GGTGGGAGGGAGTGGGTGCCTGGCGGGAGGGTGGGAGGGAGTGGGTGCCT GGCGGGAAGGTGGGAGGGAGTGGGTGCCTGGCGGGAAGGTGGGAGGGTGT GGGTGCCTGGCGGGAAGGTGGGAGGGAGTGGGTGCCTGGCGGGAAGGTGG GAGGGTGTGGGTACCTGGCGGGAGGGTGGGAGGGAGTGGGTGCCTGGTGG GAGGGTGGGAGGGAGTGGGTGCCTGGTGGGAGGGTGGGAGGGAGTGGGTG CCTGGTGGGAGGGTGGGAGGGAGTGGGTGCCTGGTGGGAGGGTGGGAGGG AGTGGGTGCCTGGTGGGAGGGTGGGAGGGAGTGGGTGCCTGGTGGGAGGG TGGGAGGGTGTGGGTGCCTGGTGGGAGGGTGGGAGGGAGTGGGTGCCTGG TGGGAGGGTGGCAGAGAGTGGGTGCCTGGTGGGAGGGTGGAAGGGAGTGG GTGCCTGGTGGGAGGGTGTGGGTGCCTGGTGGGAGGGAGTGGGTGCCTGG TGGGAGAGTGGGAGGGAGTGGGTGCCTGGTGGGAGGGTGGGAGGGAGTGG GTGCCTGGTGGGAGGGTGGGAGGGTGTGGGTGCCTGGTGGGAGAGAGTGG GTGCCTGGTGGGAGA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0005 a0001c0021t0005	a0001c0021t0005g0219 a0001c0021t0005g0219	1	228	0.0044	664	c.789 others(681): Show c.789+4816_789+4817insTCTCCCACCAGGCACCCACTCTCTCCCA CCAGGCACCCACACCCTCCCACCCTCCCACCAGGCACCCACTCCCTCCCA CCCTCCCACCAGGCACCCACTCCCTCCCACTCTCCCACCAGGCACCCACT CCCTCCCACCAGGCACCCACACCCTCCCACCAGGCACCCACTCCCTTCCA CCCTCCCACCAGGCACCCACTCTCTGCCACCCTCCCACCAGGCACCCACT CCCTCCCACCCTCCCACCAGGCACCCACACCCTCCCACCCTCCCACCAGG CACCCACTCCCTCCCACCCTCCCACCAGGCACCCACTCCCTCCCACCCTC CCACCAGGCACCCACTCCCTCCCACCCTCCCACCAGGCACCCACTCCCTC CCACCCTCCCACCAGGCACCCACTCCCTCCCACCCTCCCACCAGGCACCC ACTCCCTCCCACCCTCCCGCCAGGTACCCACACCCTCCCACCTTCCCGCC AGGCACCCACTCCCTCCCACCTTCCCGCCAGGCACCCACACCCTCCCACC TTCCCGCCAGGCACCCACTCCCTCCCACCTTCCCGCCAGGCACCCACTCC CTCCCACCCTCCCGCCAGGCACCCACTCCCTCCCACCAGGCACCCACACC CTCCCACCCTCCCACCAGTCACCCACTCCCTCCCAC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	4/21			chr15	TogoVar
AMER2_chr13_25156679_25177288	25159099	T T	TATATATA others(657): Show TATATATATAATATATATTACATGTATATATTATATATTATATGTTTATA TATTATATGTATATATGTATATATTATATATATTATATACATATAATATA TATTCTCATATATATTATATATACTCATATATATAATATATATTCTCATA TATATATTATATATTCTCATATATATAATATATATATTCTCATATATAAT ATATATTCTCATATATATAATATATACTCATATATTATATATATACTCAT ATATAATGTATATATTCTAATATATAATATATATTTTCTCATTTATATAA TATATATTCTCATATATAATATATATTCTCATATATGACATATTATATAT ATTCTCATATATATTATATATTCTCATATATAATATATATTCTCATATAA TATATTATATATTCTCATATAATATATTATATATGCTCATATATAATATA TTATATATGCTCATATATAATATATTATATATGCGCATATATAATATATT ATATATGCTCATATATAATATATTATATATGCTCATATATATTATATATG CTCATATATAATATATTATATATGCTCATATATATTATATATGCTCATAT ATAATATATTATATATGCTCATATATATTATATATGCTCATATATAATAT ATATGCTCATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0080 a0001c0001t0080	a0001c0001t0080g0000 a0001c0001t0080g0000	1	416	0.0024	664	c.10 others(677): Show c.10504_*10505insTATATATGAGCATATATATTATATATGAGCAT ATATAATATATATGAGCATATATAATATATTATATATGAGCATATATAAT ATATATGAGCATATATAATATATTATATATGAGCATATATAATATATATG AGCATATATAATATATTATATATGAGCATATATAATATATTATATATGCG CATATATAATATATTATATATGAGCATATATAATATATTATATATGAGCA TATATAATATATTATATGAGAATATATAATATATTATATGAGAATATATA TTATATATGAGAATATATAATATATATGAGAATATATATAATATGTCATA TATGAGAATATATATTATATATGAGAATATATATTATATAAATGAGAAAA TATATATTATATATTAGAATATATACATTATATATGAGTATATATATAAT ATATGAGTATATATTATATATATGAGAATATATATTATATATGAGAATAT ATATATTATATATATGAGAATATATAATATATATATGAGAATATATATTA TATATATGAGTATATATAATATATATGAGAATATATATTATATGTATATA ATATATATAATATATACATATATACATATAATATATAAACATATAATATA TAATATATACATGTAATATATATTATATATAT	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2579		chr13	TogoVar
ANKRD30A_chr10_37120598_37237567	37167076	C C	CGGGTATG others(657): Show CGGGTATGGTTAGAAATTTGGGAAGAATATAATGTGACCTTCTAGAATCA AAATTTACCAGAGAATTACAGCAAAAATATTCTGACTCTTAATGTCTTTC TCACTGGTGGGAAGCCATTAGGGATGGAAGCACCTGACCATGGAGAGCTG TGTTCTATTTGCAATAGGTGAGAATAAGCATATCTGCACGGCCACACATG TATATAAATTGTCATATACACTCCGTATAGACCAGAGGTTTTCAAACTTT AGAAAGTCAGCTGAAAACCTTGTTAACAATTCACACTGAGATTCAGCCGA CCTGGGATTCTGCATTTTTAAAAAGTTCTCAGGTGATGCTGATGCTGGTG GTCCTTGGACGTTGCTCTGGGTAGCAAGAGGAGAGGCCTTTTGTGGGAAA AATGTGGAAGCAGAGCAACTGGATAGAAGGTCAGGACAGAAAAGGTCAGG AGAAAACATCATGGTCCTCTTAATTTTGAGGATGTTTTTAGTCAGGGGAG AAGAAGAAAGGAGCAATGCAATAGAAATTATAGATGGAAGGTACTACCAC TCCTCAAAGTAAAAGGAAAGAGTGGGAAAAAATAATTTTAACAGGTGTCG AATGGGAAGAATCAAGAGCACAAGTCTAGTGATTATTTTTGCTAAAGCAG AGAGATTGTGAGGCA	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0040 a0040	a0040c0045 a0040c0045	a0040c0045t0001 a0040c0045t0001	a0040c0045t0001g0160 a0040c0045t0001g0160	1	286	0.0035	664	c.215 others(681): Show c.2155+383_2155+384insGTATGGTTAGAAATTTGGGAAGAATATA ATGTGACCTTCTAGAATCAAAATTTACCAGAGAATTACAGCAAAAATATT CTGACTCTTAATGTCTTTCTCACTGGTGGGAAGCCATTAGGGATGGAAGC ACCTGACCATGGAGAGCTGTGTTCTATTTGCAATAGGTGAGAATAAGCAT ATCTGCACGGCCACACATGTATATAAATTGTCATATACACTCCGTATAGA CCAGAGGTTTTCAAACTTTAGAAAGTCAGCTGAAAACCTTGTTAACAATT CACACTGAGATTCAGCCGACCTGGGATTCTGCATTTTTAAAAAGTTCTCA GGTGATGCTGATGCTGGTGGTCCTTGGACGTTGCTCTGGGTAGCAAGAGG AGAGGCCTTTTGTGGGAAAAATGTGGAAGCAGAGCAACTGGATAGAAGGT CAGGACAGAAAAGGTCAGGAGAAAACATCATGGTCCTCTTAATTTTGAGG ATGTTTTTAGTCAGGGGAGAAGAAGAAAGGAGCAATGCAATAGAAATTAT AGATGGAAGGTACTACCACTCCTCAAAGTAAAAGGAAAGAGTGGGAAAAA ATAATTTTAACAGGTGTCGAATGGGAAGAATCAAGAGCACAAGTCTAGTG ATTATTTTTGCTAAAGCAGAGAGATTGTGAGGCAGG	ANKRD30A	ENSG00000148513.20	transcript	ENST00000361713.2	protein_coding	19/35		INFO_REALIGN_3_PRIME	chr10	TogoVar
ASAP2_chr2_9201812_9410678	9406062	T T	TCTTCCTC others(657): Show TCTTCCTCAGGCCTTCAATGTGTGTTTGTCACTGAGTGGACCTCTGTGAC ATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTG ACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTG TGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGA CCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTG AGTGGACCTCTGTGACATCTCGGCTTCCTCAGGCCTTCAGTGTGTGTTTG TCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTG TGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTC AGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGGCTTCCTCAG GCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTT CCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCT AGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTG ACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACC TCTGTGACATCTAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0157 a0002c0001t0001g0157	1	210	0.0048	664	c.27 others(675): Show c.2735_*2736insCTTCCTCAGGCCTTCAATGTGTGTTTGTCACTGA GTGGACCTCTGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTCACT GAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTCA CTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGT TTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGT GTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGGCTTCCTCAGGCC TTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCT CAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGT CTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACA TCTAGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCT GTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGG ACCTCTGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACT GAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTT GTCACTGAGTGGACCTCTGTGACATCTAGG	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding		385		chr2	TogoVar
CADPS_chr3_62393348_62880416	62844091	T T	TAAAAATG others(657): Show TAAAAATGGTCTTTTGTTTTGAGAAGGCCCAGGAAGCACTGATGACTGCT GTCGCAGGAAAAAAAAACAGCCTTCAAATAAGCAAAGGGCATAGTGAAGT TAAGAGACATCAGTGGTTCCTCAGACGCAAAACTCTGAAGCTCAAGGAAG GACATGTGCAGGCAGAGGTACAGGCCAAAGGAATATTGGAAAACTTAGTA GAAAAGGTTTAACGGGAATATGTGCTATAACTTAGGGCATTTTTACAGAG TCCAGAGGTAGAAAAACATACAGTAAATATATATATATTTGAGTAATTTA TTGTTGATTTAAAGCCTAATAGCATAATTTTAAAATTTATTCCTTTTGTG TATTGCTAACGTAGAGAAGTTAACTTTTCAGTTTGCTCAAAAATCCCCAC CACGAACAATTATTTGACCTGAAACCAACAAACATTGACTCTTCGCTTTC CTATTTCATAGTCCTCTGTGTAAAGCTATACTAATTAAGATAGTAGGCTA ATAGAAATTTAAAATTCAAGGGAAAATATTGAAAACCTGGAATGGGCCTG AATATATGCATAATCTTAACATGTTGTGAAGTAATTATCTAAAAGAAGAA GAGATGAATTATTCAATAAATGATATTGTGGAAATTAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0014 a0001c0001t0009g0014	1	160	0.0063	664	c.441 others(683): Show c.441+30497_441+30498insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTAATTTCCACAATATCATTTATTGAATAATTCATCTCTTCTTCTTTTA GATAATTACTTCACAACATGTTAAGATTATGCATATATTCAGGCCCATTC CAGGTTTTCAATATTTTCCCTTGAATTTTAAATTTCTATTAGCCTACTAT CTTAATTAGTATAGCTTTACACAGAGGACTATGAAATAGGAAAGCGAAGA GTCAATGTTTGTTGGTTTCAGGTCAAATAATTGTTCGTGGTGGGGATTTT TGAGCAAACTGAAAAGTTAACTTCTCTACGTTAGCAATACACAAAAGGAA TAAATTTTAAAATTATGCTATTAGGCTTTAAATCAACAATAAATTACTCA AATATATATATATTTACTGTATGTTTTTCTACCTCTGGACTCTGTAAAAA TGCCCTAAGTTATAGCACATATTCCCGTTAAACCTTTTCTACTAAGTTTT CCAATATTCCTTTGGCCTGTACCTCTGCCTGCACATGTCCTTCCTTGAGC TTCAGAGTTTTGCGTCTGAGGAACCACTGATGTCTCTTAACTTCACTATG CCCTTTGCTTATTTGAAGGCTGTTTTTTTTTCCTGCGACAGCAGTCATCA GTGCTTCCTGGGCCTTCTCAAAACAAAAGACCATTTTT	CADPS	ENSG00000163618.18	transcript	ENST00000383710.9	protein_coding	1/29			chr3	TogoVar
CAPN11_chr6_44153820_44189401	44181908	T T	TCACACAC others(657): Show TCACACACACACACACACTCACATACAGACACAACCACACCACACTCACA CACACACATACACACTCACATACAGACACAACCACACCACACACACACAC ACTCACATACAGACACAACCACACCACACACACACACACACACACTCACA TACAGACACAACCACACCACACACACACACACTCACATACAGACACAACC ACACCACACTCACACACACACACTCACATACAGACACAACCACACCACAC TCACACATACACACTCACATACAGACACAACCACACCACACACACACACA CACTCACATACAGACACAACCACACCACACACACACACACTCACATACAG ACACAACCACACCACACACACACATACACACTCACATACAGACACAACCA CACCACACACACACACATACACACTCACATAGACACAACCACACCACACT CACACACACACATACACACTCACATACAGACACAACCACACCACACACAC ACACACACACACTCACATACAGACACAACCACACCACACTCACACACACA CACACTCACATACAGACACAACCACACCACACACACACATACACACTCAC ATACAGACACAACCACACCACACTCACACACACATACACACTCACATACA GACACAACCACACCA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0418 a0007c0007t0001g0418	1	460	0.0022	664	c.193 others(681): Show c.1938+598_1938+599insCACACACTCACATACAGACACAACCACA CCACACTCACACACACACATACACACTCACATACAGACACAACCACACCA CACACACACACACTCACATACAGACACAACCACACCACACACACACACAC ACACACTCACATACAGACACAACCACACCACACACACACACACTCACATA CAGACACAACCACACCACACTCACACACACACACTCACATACAGACACAA CCACACCACACTCACACATACACACTCACATACAGACACAACCACACCAC ACACACACACACACTCACATACAGACACAACCACACCACACACACACACA CTCACATACAGACACAACCACACCACACACACACATACACACTCACATAC AGACACAACCACACCACACACACACACATACACACTCACATAGACACAAC CACACCACACTCACACACACACATACACACTCACATACAGACACAACCAC ACCACACACACACACACACACACTCACATACAGACACAACCACACCACAC TCACACACACACACACTCACATACAGACACAACCACACCACACACACACA TACACACTCACATACAGACACAACCACACCACACTCACACACACATACAC ACTCACATACAGACACAACCACACCACACACACACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44181908	T T	TCACACAC others(657): Show TCACACACACACACACTCACATACAGACACAACCACACCACACTCACACA CACACATACACACTCACATACAGACACAACCACACCACACACACACACAC TCACATACAGACACAACCACACCACACACACACACACACACACACTCACA TACAGACACAACCACACCACACACACACACACTCACATACAGACACAACC ACACCACACTCACACACACACACTCACATACAGACACAACCACACCACAC TCACACATACACACTCACATACAGACACAACCACACCACACACACACACA CACTCACATACAGACACAACCACACCACACACACACACACACTCACATAC AGACACAACCACACCACACACACACATACACACTCACATACAGACACAAC CACACCACACACACACACATACACACTCACATAGACACAACCACACCACA CTCACACACACACATACACACTCACATACAGACACAACCACACCACACAC ACACACACACACTCACATACAGACACAACCACACCACACTCACACACACA CACACTCACATACAGACACAACCACACCACACACACACATACACACTCAC ATACAGACACAACCACACCACACTCACACACACATACACACTCACATACA GACACAACCACACCA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0108 a0003c0003t0001g0108	1	460	0.0022	664	c.193 others(681): Show c.1938+598_1938+599insCACACTCACATACAGACACAACCACACC ACACTCACACACACACATACACACTCACATACAGACACAACCACACCACA CACACACACACTCACATACAGACACAACCACACCACACACACACACACAC ACACACTCACATACAGACACAACCACACCACACACACACACACTCACATA CAGACACAACCACACCACACTCACACACACACACTCACATACAGACACAA CCACACCACACTCACACATACACACTCACATACAGACACAACCACACCAC ACACACACACACACTCACATACAGACACAACCACACCACACACACACACA CACTCACATACAGACACAACCACACCACACACACACATACACACTCACAT ACAGACACAACCACACCACACACACACACATACACACTCACATAGACACA ACCACACCACACTCACACACACACATACACACTCACATACAGACACAACC ACACCACACACACACACACACACTCACATACAGACACAACCACACCACAC TCACACACACACACACTCACATACAGACACAACCACACCACACACACACA TACACACTCACATACAGACACAACCACACCACACTCACACACACATACAC ACTCACATACAGACACAACCACACCACACACACACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN15_chr16_522712_559636	544825	C C	CCTCCCCC others(657): Show CCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCC TCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCC CACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCA CGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCC ACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTC GTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGT CGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCG CCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCC GTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCGT CTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCC CCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACG TCGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGT CGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCT CCCCCACGTCGTCGT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0256 a0001c0002t0004g0256	1	410	0.0024	664	c.-22 others(681): Show c.-22-1979_-22-1978insTCGCCTCCCCCACGTCGCCGTCTCCCCC ACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGC CTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCG TCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCC CCCACGTCGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTC CCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCC CCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCGTCTCCCCC ACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCAC GTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGT CGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCT CCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCC CACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCA CGTCGCCTCCCCCACGTCGTCGTCTCCCCCACGTCG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCDC57_chr17_82096470_82217842	82215697	C C	CCCCCACA others(657): Show CCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAG CACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCT CCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCC CCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCA CCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCC TTCCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCC CACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCAC CCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTT CCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCC ACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACC CCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTC CCTGCCCCCACACTGCAGCACCCCTCCCCTTCCTTCCCTGCCCCCCACAC TGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCCACACTGCAGCACCCCT CCCCCTCCTTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02071.hp1 HG02027.hp2 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0158 a0001c0001t0001g0159	2	252	0.0079	664	c.-29 others(675): Show c.-2922_-2921insCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGG GGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGG AAGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGC TGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGG CAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGG GGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGGGGGAGGGGTGCT GCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGC AGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGG GAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGC AGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCA GGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGG AGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAG TGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGG AAGGAGGGGGAGGGGTGCTGCAGTGTGGGG	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding		2856		chr17	TogoVar
CECR2_chr22_17364460_17563151	17524554	G G	GGCTAATT others(657): Show GGCTAATTTTTTGTATTGTTAGTAGAGACGGGGTTTCACCGTGTTAGCCA GGATGATCTAGAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCACTTTTTTTCTG TTTAGAGTTCTGCAAGCAAAGGATAATAACTGTCTTTAGATGTTTTCTTA GATAACAATTGTATTTATAAGTTCAACCTGATAAATCATGTGATAACAGA TCACTTGGTGTAATTGAAGATAGTCCAAGATTTACCTTTTAAATAAGTGT ATTGAATATTTTTAATTTTTCAATACAACAGCATAGCATATGGATTTGGC TTTTTTAATGCAGTGTTTTGCAGGGCAAGATTTCAGTAAATTTTGGCTAA GAAAATTGAAGTATTCTGGCCTTATGTACCTATTAAGTAACAGAAAGTTA CTTAACCTATTATGTGCACCTCATTCCTACCAAGATCTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGACTCCGTCTCGGTTTGTCGCCCAGGC TGGAGTGCAGTGGCACGATCTCGTCTCACTGCAAGCTCCGCATCCCGGGT TCTCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCAC CCACTACCACGCCCA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02896.hp2 HG03491.hp1 HG01070.hp2 HG02896.hp2 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009	a0001c0001t0003g0186 a0001c0001t0004g0167 a0001c0001t0009g0135 a0001c0001t0003g0186 a0001c0001t0004g0167 a0001c0001t0009g0135	3	324	0.0093	664	c.110 others(681): Show c.1108+299_1108+300insGTTAGTAGAGACGGGGTTTCACCGTGTT AGCCAGGATGATCTAGAACTCCTGACCTTGTGATCCACCCGCCTCGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCACTTTTT TTCTGTTTAGAGTTCTGCAAGCAAAGGATAATAACTGTCTTTAGATGTTT TCTTAGATAACAATTGTATTTATAAGTTCAACCTGATAAATCATGTGATA ACAGATCACTTGGTGTAATTGAAGATAGTCCAAGATTTACCTTTTAAATA AGTGTATTGAATATTTTTAATTTTTCAATACAACAGCATAGCATATGGAT TTGGCTTTTTTAATGCAGTGTTTTGCAGGGCAAGATTTCAGTAAATTTTG GCTAAGAAAATTGAAGTATTCTGGCCTTATGTACCTATTAAGTAACAGAA AGTTACTTAACCTATTATGTGCACCTCATTCCTACCAAGATCTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTGAGACTCCGTCTCGGTTTGTCGCC CAGGCTGGAGTGCAGTGGCACGATCTCGTCTCACTGCAAGCTCCGCATCC CGGGTTCTCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCACCCACTACCACGCCCAGCTAATTTTTTGTATT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CELF2_chr10_11012872_11341675	11284432	T T	TGGATGAG others(657): Show TGGATGAGTGTGTGGTGGGTGGATGAGGGATGAGTGCGTGGTGGGTGGAT GAGGGATGAGTGTGTGGTGGGGGATGAGGGATGAGTGTGTGGTGGGTGGA TGAGGGATGAGTGTGTGGTGGGTGGATGATGGATGGAGGGGTGGGTGGAC GATGGATGAGTGTGTGGTAGGTGGACGATGGATGAGTGTGTGGTGGGTGG ATGAGGGATGAGTGTGTGGTGGGTGGATGATGGATGAGTGTCTGGTGAGT GGATGAGGGATGAGTGTGTGGTGGGTGGATGATGGATGGAGGGGTGGGTG GATGATGGATGACTGTGTGGTAGGTGGATGATGGATGAGTGTGTGGTGGG TGGATGAGGGATGAGTGTGTGGTGGGTGGATGACGGATGAGTGTGTGGTG AGTGGATGAGGGATGAGTGTGTGGTGGGTGGATGATGGATGAGTGTGTGG TGAGTGGATGAGGGATGAGTGTGTGGTGGGTGGATGATGGATGGAGGAGT GGGTGGATGATGGATGACTGTGTGGTAGGTGGATGATGGATGAGTGTGTG GTGGGTGGATGAGGGATGAGTGCGTGGTGGGTGGGTGAGGGATGAGTGTG TGGTGGGTGGATGAGGGATGAGTGTGTGGTGGGTGGATGAGGGATGAGTG TGGTGGGTGGATGAG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0083 a0001c0001t0013g0083	1	194	0.0052	664	c.842 others(681): Show c.842-3951_842-3950insCGTGGTGGGTGGATGAGGGATGAGTGTG TGGTGGGGGATGAGGGATGAGTGTGTGGTGGGTGGATGAGGGATGAGTGT GTGGTGGGTGGATGATGGATGGAGGGGTGGGTGGACGATGGATGAGTGTG TGGTAGGTGGACGATGGATGAGTGTGTGGTGGGTGGATGAGGGATGAGTG TGTGGTGGGTGGATGATGGATGAGTGTCTGGTGAGTGGATGAGGGATGAG TGTGTGGTGGGTGGATGATGGATGGAGGGGTGGGTGGATGATGGATGACT GTGTGGTAGGTGGATGATGGATGAGTGTGTGGTGGGTGGATGAGGGATGA GTGTGTGGTGGGTGGATGACGGATGAGTGTGTGGTGAGTGGATGAGGGAT GAGTGTGTGGTGGGTGGATGATGGATGAGTGTGTGGTGAGTGGATGAGGG ATGAGTGTGTGGTGGGTGGATGATGGATGGAGGAGTGGGTGGATGATGGA TGACTGTGTGGTAGGTGGATGATGGATGAGTGTGTGGTGGGTGGATGAGG GATGAGTGCGTGGTGGGTGGGTGAGGGATGAGTGTGTGGTGGGTGGATGA GGGATGAGTGTGTGGTGGGTGGATGAGGGATGAGTGTGGTGGGTGGATGA GGGATGAGTGTGTGGTGGGTGGATGAGGGATGAGTG	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr10	TogoVar

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Search Results (Total: 10000 hits)