Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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
LHFPL3_chr7_104323603_104913561	104824176	A A	ATATATAT others(788): Show ATATATATAATATATATATTATATATTATATATATAATATATATATTATA TATTATAATATATAATATATAATATATATTATATATATTATATATTATAT ATATAATATATTATATATTATATATATATTATATAATATATTATATATTA TATATATATTATATTATATATTATATATAATTATATATATTTTATATATT ATATATTATATATTATATATTATATATTATATATATTATATATTATATAT TATATATTATATATTATATATATTATATATTATATATTATATTTTATATA TATTATATATTATATATACAATTATATATATTATATATATTATATATTAT ATATATTATATATTATATAATATATTATATATAATATATATTATATATTA TATATTATATAATATATATATAATATATTATATATTATATATTATATAAT ATATTATATATAATATATATTATATATTATATATTATATAATATATAATA TATAATATATATTATATATATATTATATAATATATTATATATAATATATA TTATATATAATATATTATATAATATATTATATATATAATATATATTATAT ATAATATATATAATTGTATATATAATATATAATATATAATATATAATATA TATAATATATAATATATAATATATATAATATATAATATATAATATATAAT ATATATAATATATAATATATAATATATAATATATAATATATAATATATAA AATATATATATAAAATATATTATGTATTATATATTATATAATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	86	0.0116	795	c.683 others(814): Show c.683-81995_683-81994insATTATATATTATATATATAATATATA TATTATATATTATAATATATAATATATAATATATATTATATATATTATAT ATTATATATATAATATATTATATATTATATATATATTATATAATATATTA TATATTATATATATATTATATTATATATTATATATAATTATATATATTTT ATATATTATATATTATATATTATATATTATATATTATATATATTATATAT TATATATTATATATTATATATTATATATATTATATATTATATATTATATT TTATATATATTATATATTATATATACAATTATATATATTATATATATTAT ATATTATATATATTATATATTATATAATATATTATATATAATATATATTA TATATTATATATTATATAATATATATATAATATATTATATATTATATATT ATATAATATATTATATATAATATATATTATATATTATATATTATATAATA TATAATATATAATATATATTATATATATATTATATAATATATTATATATA ATATATATTATATATAATATATTATATAATATATTATATATATAATATAT ATTATATATAATATATATAATTGTATATATAATATATAATATATAATATA TAATATATATAATATATAATATATAATATATATAATATATAATATATAAT ATATAATATATATAATATATAATATATAATATATAATATATAATATATAA TATATAAAATATATATATAAAATATATTATGTATTATATATTATATAATA TATTATATATAATATATAT	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
LHPP_chr10_124456823_124619141	124471437	T T	TTATGTAT others(788): Show TTATGTATATATTTATATATATTTATATATATTTTATATATATTTATATA TATATAAATTTTTTTATATTTATATATTTTTTATATATTTATATATATTA CATATATTTTTATATTTTATATATATTTATATATTTTATATATTTATATA TTTTTTATATATTATATTTATATATATATTTATATATATTTATGTATATT TATATATATATTTATATATATTTATGTATATTTATATATATATTTATATA TATTTATGTATATTTATATATATTTATATATTTATGTATATATTTATATA TATTTATATATTTATGTATAAATTTATATATATTTATATGTATTTATATA TATATTTATATGTATTTATATATATTTATATATTTATATGTATTTATACA TATATATTTATATGTATTTATATATATTTATATATATTTTTTATGTATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATATTTATATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATTTATATATAT ATTTATATATATTTATATATATATTTATATATATATTTATATATATTTAT ATATATTTATATATATATTTATATATATATTTATATATATATTATTTATA TATATATTTATATATATTTATATATATTTATATATATTTATATATATTTA TATATATATTTATATATATATTTATATATATTTATATATATATTTA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	260	0.0039	795	c.125 others(812): Show c.125+9453_125+9454insGTATATATTTATATATATTTATATATAT TTTATATATATTTATATATATATAAATTTTTTTATATTTATATATTTTTT ATATATTTATATATATTACATATATTTTTATATTTTATATATATTTATAT ATTTTATATATTTATATATTTTTTATATATTATATTTATATATATATTTA TATATATTTATGTATATTTATATATATATTTATATATATTTATGTATATT TATATATATATTTATATATATTTATGTATATTTATATATATTTATATATT TATGTATATATTTATATATATTTATATATTTATGTATAAATTTATATATA TTTATATGTATTTATATATATATTTATATGTATTTATATATATTTATATA TTTATATGTATTTATACATATATATTTATATGTATTTATATATATTTATA TATATTTTTTATGTATTTATATATATTTATATATATATTTATATATATTT ATATATATATTTATATATATTTATATATATATTTATATATATTTATATAT ATATTTATATATATATTTATATATATTTATATATATATTTATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATATTTATATATATTTATATATATTTATATATATATTTATATATATATTT ATATATATATTATTTATATATATATTTATATATATTTATATATATTTATA TATATTTATATATATTTATATATATATTTATATATATATTTATATATATT TATATATATATTTATAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAP3K15_chrX_19355059_19520508	19478121	G G	GGAGAGGG others(788): Show GGAGAGGGGGGAGAGGGGGAGGGGGGAGGGGGGAGAGGGGGAGAGGGGGG AGGGGGAGAGGGGGAGAGGGGGAGAGGGGGAGAGGGGGAGAGGGGGAGAG GGGGAGAGGGGGGGAGGGGGAGAGGGGGAGAGGGGGGGAGGGGGAGGGGG GGAGAGGGGGAGAGGGGGGGAGGGGGGAGAGGGGGGGAGGGGGGAGAGGG GGGGAGGGGGGAGAGGGGGGGAGGGGGGAGAGAGGGGGGAGGGGGGAGGG GGGGAGGGGGGAGGGGGGGAGGGGGGAGGGGGGGAGGGGGGAGGGGGAGA GGGGGGAGGGGGGGAGGGGGAGAGAGGGGGGAGGGGGGAGAGGGGGGGAG GGGGGAGAGGGGGGGAGGGGGGAGAGGGGGGAGGGGAGAGGGGGGAGGGG GGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGG AGAGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGGGGA GAGGGGTGAGAGGGGGAGAGGGGGGAGAGAGGGGGAGAGGGGGGAGAGAG GGGGAGAGGGGGGAGAGAGGGGGAGAGGGGGGAGAGAGGGGGGAGGGGGG AGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAG GGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGGGAGGGG GGAGGGGGAGGGGGGAGAGGGGGGAGGGGGAGGGGGGAGGGGGGAGAGAG GGGGAGAGAGGGGGAGAGAGGGGGGAGAGAGGGGGAGAGAGGGGGA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0058 a0002c0002t0001g0058	1	163	0.0061	795	c.525 others(812): Show c.525+8360_525+8361insTCCCCCTCTCTCCCCCTCTCTCCCCCCT CTCTCCCCCTCTCTCCCCCTCTCTCCCCCCTCCCCCCTCCCCCTCCCCCC TCTCCCCCCTCCCCCTCCCCCCTCCCCCCTCTCCCCCTCCCCCCTCTCCC CCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCC CTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCTCCCCCCTCTCCCCC TCTCTCCCCCCTCTCCCCCTCTCTCCCCCCTCTCCCCCTCTCTCCCCCCT CTCCCCCTCTCACCCCTCTCCCCCCCTCTCCCCCTCCCCCCTCTCCCCCC TCCCCCCTCTCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCT CCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCTCCCCCCTCTCCCC CCTCCCCCCCTCTCCCCCCTCCCCCCCTCTCCCCCCTCCCCCCTCTCTCC CCCTCCCCCCCTCCCCCCTCTCCCCCTCCCCCCTCCCCCCCTCCCCCCTC CCCCCCTCCCCCCTCCCCCCCTCCCCCCTCCCCCCTCTCTCCCCCCTCCC CCCCTCTCCCCCCTCCCCCCCTCTCCCCCCTCCCCCCCTCTCCCCCCTCC CCCCCTCTCCCCCTCTCCCCCCCTCCCCCTCCCCCCCTCTCCCCCTCTCC CCCTCCCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCC CTCTCCCCCTCTCCCCCTCCCCCCTCTCCCCCTCTCCCCCCTCCCCCCTC CCCCTCTCCCCCCTCTC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MFRP_chr11_119333942_119351705	119351510	C C	CCTCCTCT others(788): Show CCTCCTCTCTCCTCCTCTGTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CTTCCCTTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCCACCAC CCTCCCTCCTCCCTCTCCTCCCTTCTCCCTCCTCCTCTCCTCCCCTCTCC CTCCTCCCTCCTCTCTCCTCCCTCCCCTCTCCCTCCCTCCTCTCCCCCTC CCCCTCCCCTCCTCTCCTCCTCCCCTCCCCTCCTCTCCTCACTCCCTCTC CCCCCTCCCTCTCTCCCTCCCTCCTCTCCCTCCCCTCCCCTCTCTCCCTC TCCCCTCCCTCCTCTCTCCTCCCTCCCCTCCCTCCTCTCCTCTCCCCTCC CCTCTCGCTCCTCTTCTCCCCTCCTTCCTCTCCCTCCTCTCTCCTCCCCT CTCCCTCTCTCCGCTCCTCTCCCTCCCTTCCCTCTCCTCCCCTCCTCTCT CCTCCCTCCGCTCCCTCTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCC CCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCTGCTCCTCTCC CCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCC GCTCCCCTCCCCTCTCCTCCACTCCTCTCCCCTCTCCTCCACTCCTCTCC CCTCCCCTCCTCTCTCCTCCACTCCTCTCCCCTCCTCTCCTCTCTCCTCC CCTCCCCTCTCCTCCCCTCCCCACCCCTCCCCTCCCCTCCTTTCTCCTCC CCTCCCCACGGCTCCCCTCCCCTCCTTTCTCCTCCCTTGCCGTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	318	0.0031	795	c.-49 others(806): Show c.-4998_-4997insAGGACGGCAAGGGAGGAGAAAGGAGGGGAGGGGA GCCGTGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGGA GGAGAGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGA GAGGAGGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGAGGAGTGGAGGAGA GGGGAGGGGAGCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGA GGGGAAGGGAGGGGAGAGGAGCAGAGGAGAGGGGAGGGGAGGAGAGAGGA GGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGAGGG AGCGGAGGGAGGAGAGAGGAGGGGAGGAGAGGGAAGGGAGGGAGAGGAGC GGAGAGAGGGAGAGGGGAGGAGAGAGGAGGGAGAGGAAGGAGGGGAGAAG AGGAGCGAGAGGGGAGGGGAGAGGAGAGGAGGGAGGGGAGGGAGGAGAGA GGAGGGAGGGGAGAGGGAGAGAGGGGAGGGGAGGGAGAGGAGGGAGGGAG AGAGGGAGGGGGGAGAGGGAGTGAGGAGAGGAGGGGAGGGGAGGAGGAGA GGAGGGGAGGGGGAGGGGGAGAGGAGGGAGGGAGAGGGGAGGGAGGAGAG AGGAGGGAGGAGGGAGAGGGGAGGAGAGGAGGAGGGAGAAGGGAGGAGAG GGAGGAGGGAGGGTGGTGGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGA GGGGAAGGGAAGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGACAGAGGA GGAGAGAGGAG	MFRP	ENSG00000235718.9	transcript	ENST00000619721.6	protein_coding		4806		chr11	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(788): Show GCCCTCCCCCTCCCCTCCCCGTCCCCTCCCTTCCCCTCCCCTCCCCCTTC CCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCTCCCT CCCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCC TCCACCCTCCCCTCCCCTCCCTTCCCCTCCCCCTTCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCTCCCTTCCCCTCCCCCCTCCCCTCCCCTCCCCTC CCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCACCCT CCCCTCCCCTCCCTTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTT CCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTTCCCCTCCCCTC CCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCTCCCTTCCCCTCCC CCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCATCCCCCTTCCCCT TCCTACCCCTCCCCTCCCCCCTCCCCTCCCCTCTTCGCCTCCCCTCCCCT CTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTCCCCTCCCTTCCCCTCCC CTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCTCCCCCCCTCCTCC CCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCC CCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCTCCCTTCCCTCTC CTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCCCTCCCCAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0021 a0001c0011t0002g0021	1	278	0.0036	795	c.115 others(812): Show c.1157+146_1157+147insCTCCCCTCCCCGTCCCCTCCCTTCCCCT CCCCTCCCCCTTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCC TCCCCTCCTCCCTCCCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTC CCCTCCCCTCCCCTCCACCCTCCCCTCCCCTCCCTTCCCCTCCCCCTTCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCTTCCCCTCCCCCCTCCC CTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCC TCCCCTCCACCCTCCCCTCCCCTCCCTTCCCCTCCCCCCTCCCCTCCCCC TCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCC TTCCCCTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCT CCCTTCCCCTCCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCA TCCCCCTTCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCTCTTCG CCTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTCCCCT CCCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCT CCCCCCCTCCTCCCCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCTC TCCTCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCC TCCCTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCC CCTCCCCACCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(788): Show GCCCTCCCCTCCCCTCCCCGTCCCCTCCCTTCCCCTCCCCTCCCCCTTCC CCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCTCCCTC CCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCT CCACCCTCCCCTCCCCTCCCTTCCCCTCCCCCTTCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCTCCCTTCCCCTCCCCCCTCCCCTCCCCTCCCCTCC CCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCACCCTC CCCTCCCCTCCCTTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTTC CCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTTCCCCTCCCCTCC CCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCTCCCTTCCCCTCCCC CCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCATCCCCCTTCCCCTT CCTACCCCTCCCCTCCCCCCTCCCCTCCCCTCTTCGCCTCCCCTCCCCTC TGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTCCCCTCCCTTCCCCTCCCC TCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCTCCCCCCCCTCCTCC CCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCC CCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCTCCCTTCCCTCTC CTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCCCTCCCCAC	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp2 NA18950.hp1 NA18950.hp2	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0002 a0002c0017t0002	a0002c0017t0002g0101 a0002c0017t0002g0196 a0002c0017t0002g0101 a0002c0017t0002g0196	2	278	0.0072	795	c.115 others(812): Show c.1157+156_1157+157insGTCCCCTCCCTTCCCCTCCCCTCCCCCT TCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCTCC CTCCCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCC CCTCCACCCTCCCCTCCCCTCCCTTCCCCTCCCCCTTCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCTTCCCCTCCCCCCTCCCCTCCCCTCCCC TCCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCACC CTCCCCTCCCCTCCCTTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCC TTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTTCCCCTCCCC TCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCTCCCTTCCCCTC CCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCATCCCCCTTCCC CTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCTCTTCGCCTCCCCTCCC CTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTCCCCTCCCTTCCCCTC CCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCTCCCCCCCCTCC TCCCCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCTCTCCTCTCCCC TCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCTCCCTTCCCT CTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCCCTCCCCACC CCTCCCCTCCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MPPED1_chr22_43407014_43512848	43500169	A A	ATGGAGGT others(788): Show ATGGAGGTGGCAGTGATGATGGTGGTGATGGTGATGGAGGTGGCGGTGGT GATGGTGGTGGTGGTGATGGGGGTGGTGATGGGGGTGGTGGTGGTGATGG TGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGATGGTGATG GAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGT GGTGGTGGAGGTGGTGGTGGTGGTGGTGATGGAGGTGGTGATGGGGGTGG TGGTGGTGATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTG ATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGGT GATGGTGATGGAGGTGGTGATGGTGGTGATGGGGGTGGTGGTGGTGATGG TGATGGAGGTGGCAGTGATGATGGTGGTGATGGTGATGGAGGTGGTGGTG GTGATGGTGGTGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGT GGCAGTGATGATGGTGGTGATGGTGATGGAGGTGGCGGTGGTGATGGGGG TGGTGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTG ATGGGGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGGT GGTGGTGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGA TGGAGGTGGCGGTGGTGATGGTGGAGGTGGTGGTGGTGGTGAGGGAGGTG GTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGGTGATGG	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0124 a0001c0001t0007g0124	1	250	0.0040	795	c.748 others(812): Show c.748+1828_748+1829insCAGTGATGATGGTGGTGATGGTGATGGA GGTGGCGGTGGTGATGGTGGTGGTGGTGATGGGGGTGGTGATGGGGGTGG TGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTG GTGATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGA GGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGATGGAGGTGG TGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGGGGTGGTG GTGGTGATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGAT GGAGGTGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGATGGGGGTGG TGGTGGTGATGGTGATGGAGGTGGCAGTGATGATGGTGGTGATGGTGATG GAGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGGGGTGGTGGTGGTGAT GGTGATGGAGGTGGCAGTGATGATGGTGGTGATGGTGATGGAGGTGGCGG TGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTG GTGGAGGTGGTGATGGGGGTGGTGATGGGGGTGGTGGTGGTGATGGTGAT GGAGGTGGTGGTGGTGGTGGTGGTGATGGAGGTGGTGATGGGGGTGGTGG TGGTGATGGTGATGGAGGTGGCGGTGGTGATGGTGGAGGTGGTGGTGGTG GTGAGGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGT GGTGATGGTGGAGGTGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MSRB3_chr12_65273683_65471907	65425002	C C	CTATATAT others(788): Show CTATATATATATATTTAGGTCCTCTGGTTTTGGTCATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAATATA TATATAAATATATATAAATATATATATAAATATATAAAAATATATATAAA TATATAAATATATATATAAATATATATAAATATATATAAATCTATATATA AATATATATAAATATATATAAATATATAAAAATATATATAAATATATAAA TATATATATAAATATATATAAATATATATAAATATATATATAAATATATA TAAATATATATAAATATATATATAAATATATATAAATATATATAAATATA TATAAATATATATTTAGCTATATTTATATCAGATAAAATGGATTAACAGT CAAAAACTGTAAAATGAGACAAAGAAGGCCATTATATAACGATAAAGCAG TCAATTCTTCAAGAGCATATAACTACTGTAAATATATATATTATATATAT ATAAAACCAAAACCAGAAGACCTAAATATATATATATATATATATAAAAA ACCAAAACCAGAGGACCTAAATATATATATATAAATATATAAATATATAA ATATAAATATATAAATATATATATATAATTATATATATATATTTAGGTCC TCTGGTTTTGGTTTTTTTAATATATATATATATATTTAGGTCTTCTGGTT TTGGTTTTATATATATATTTATATATTTATATAAATATAAATATATAAAT ATATATAATTATATATATATTTAGGTCCTCTGGTTTTGGATATATG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02451.hp1 HG02622.hp2 others(1): Show HG01243.hp1 HG02451.hp1 HG02622.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 others(1): Show a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006	4	312	0.0128	795	c.293 others(814): Show c.293-28693_293-28692insCATATATATAAATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATATAAATA TATATAAATATATATATAAATATATAAAAATATATATAAATATATAAATA TATATATAAATATATATAAATATATATAAATCTATATATAAATATATATA AATATATATAAATATATAAAAATATATATAAATATATAAATATATATATA AATATATATAAATATATATAAATATATATATAAATATATATAAATATATA TAAATATATATATAAATATATATAAATATATATAAATATATATAAATATA TATTTAGCTATATTTATATCAGATAAAATGGATTAACAGTCAAAAACTGT AAAATGAGACAAAGAAGGCCATTATATAACGATAAAGCAGTCAATTCTTC AAGAGCATATAACTACTGTAAATATATATATTATATATATATAAAACCAA AACCAGAAGACCTAAATATATATATATATATATATAAAAAACCAAAACCA GAGGACCTAAATATATATATATAAATATATAAATATATAAATATAAATAT ATAAATATATATATATAATTATATATATATATTTAGGTCCTCTGGTTTTG GTTTTTTTAATATATATATATATATTTAGGTCTTCTGGTTTTGGTTTTAT ATATATATTTATATATTTATATAAATATAAATATATAAATATATATAATT ATATATATATTTAGGTCCTCTGGTTTTGGATATATGTATATATATATATT TAGGTCCTCTGGTTTTGGT	MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
OR11H4_chr14_20234286_20249349	20237753	A A	ACTATAGT others(788): Show ACTATAGTATATATAGTATATATACTATATGTAATATAGTACATATAGTA TATATATATACTACTATATATATAATAGTATATATAGGATATATATATAC TACTATATATAGTATATATAGTAGATATACTATATATACTATATAGTATA TATAGTATATCTACTATATAGTACATATAGTATATACGGTATATCTACTA TATAGTATATATACTATATCTACTATATAGTATATATAGTATATATACTA TATAGTATATAGTATATATACTATATATACTATAGAGTATATATAGTATA TATAGTATATATACTATATACAGTATATATAGTATATATAGTATATATAC TATATATAGTATATATAGTATATATACTATATACAGTATATATAGTATAT ATAGTATATACAGTATATATAGTATATATAGTATATACAGTATATATAGT ATATATAGTATATACAGTATATATAGTATATATAGTATATATACTATATA TACTATATATAGTATATATAGTATATATACTATATATACTATATATAGTA TATATACTATATATACTATATATAGTATATATAGTATATATAGTATATAT ACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTATATAT AGTATATATAGTATATATAGTATATGTACTATATAGTACATATACTATAT ATAGTATATGTACTATATAGTACATATAGTATATATACTATATATACTAT ATATATAGTGTATATACTATATATACTATATATATAGTGTATATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0243 a0001c0001t0002g0243	1	439	0.0023	795	c.-15 others(806): Show c.-1590_-1589insCTATAGTATATATAGTATATATACTATATGTAAT ATAGTACATATAGTATATATATATACTACTATATATATAATAGTATATAT AGGATATATATATACTACTATATATAGTATATATAGTAGATATACTATAT ATACTATATAGTATATATAGTATATCTACTATATAGTACATATAGTATAT ACGGTATATCTACTATATAGTATATATACTATATCTACTATATAGTATAT ATAGTATATATACTATATAGTATATAGTATATATACTATATATACTATAG AGTATATATAGTATATATAGTATATATACTATATACAGTATATATAGTAT ATATAGTATATATACTATATATAGTATATATAGTATATATACTATATACA GTATATATAGTATATATAGTATATACAGTATATATAGTATATATAGTATA TACAGTATATATAGTATATATAGTATATACAGTATATATAGTATATATAG TATATATACTATATATACTATATATAGTATATATAGTATATATACTATAT ATACTATATATAGTATATATACTATATATACTATATATAGTATATATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATAGTATATATAGTATATGTACTATATA GTACATATACTATATATAGTATATGTACTATATAGTACATATAGTATATA TACTATATATACTATATATATAGTGTATATACTATATATACTATATATAT AGTGTATATAG	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1532		chr14	TogoVar
OR2T1_chr1_248398048_248413020	248408952	C C	CTGTAGAT others(788): Show CTGTAGATAGCGGCAGATGGTCCCGGGAGTTTAGCTCGGGCTAGGGCATT TGACTGCAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCGGGCTAGCGC ATTTGACTGTAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCGGGCTAG AGCATTTGACTGTAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCGGGC TAGAGCATTTGACTGTAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCG GGCTAGAGCATTTGACTGTAGATAGCGGCAGATGGTCACGGGAGTTTAGC TCGGGCTAGAGCATTTGACTGTAGATAGCGGCAGATGGTCACGGGAGTTT AGCTCGGGCTAGAGCATTTGACTGTAGATAGCGGCAGATGGTCACGGGAG TTTAGCTCGGGCTAGAGCATTTGACTGTAGATAGCGGCAGATGGTCACGG GAGTTTAGCTCGGGCTAGAGCATTTGACTGCAGATAGCGGCAGATGGTCA CGGGAGTTTAGCTCGGGCTAGAGCATTTGACTGTAGATAGCGGCAGATGG TCACGGGAGTTTAGCTCGGGCTAGAGCATTTGACTGTAGATAGCGGCAGA TGGTCACGGGAGTTTAGCTCGGGCTAGAGCATTTGACTGTAGATAGCGGC AGATGGTCACGGGAGTTTAGCTCGGGCTAGCGCATTTGACTGTAGATAGC GGCAGATGGTCACGGGAGTTTAGCTCGGGCTAGATCATTTGACTGTAGAT AGCGGCAGATGGTCACGGGAGTTTAGCTCGGGCTAGAGCATTTGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0041 a0001c0001t0006g0041	1	266	0.0038	795	c.18 others(806): Show c.1848_*1849insTGTAGATAGCGGCAGATGGTCCCGGGAGTTTAGC TCGGGCTAGGGCATTTGACTGCAGATAGCGGCAGATGGTCACGGGAGTTT AGCTCGGGCTAGCGCATTTGACTGTAGATAGCGGCAGATGGTCACGGGAG TTTAGCTCGGGCTAGAGCATTTGACTGTAGATAGCGGCAGATGGTCACGG GAGTTTAGCTCGGGCTAGAGCATTTGACTGTAGATAGCGGCAGATGGTCA CGGGAGTTTAGCTCGGGCTAGAGCATTTGACTGTAGATAGCGGCAGATGG TCACGGGAGTTTAGCTCGGGCTAGAGCATTTGACTGTAGATAGCGGCAGA TGGTCACGGGAGTTTAGCTCGGGCTAGAGCATTTGACTGTAGATAGCGGC AGATGGTCACGGGAGTTTAGCTCGGGCTAGAGCATTTGACTGTAGATAGC GGCAGATGGTCACGGGAGTTTAGCTCGGGCTAGAGCATTTGACTGCAGAT AGCGGCAGATGGTCACGGGAGTTTAGCTCGGGCTAGAGCATTTGACTGTA GATAGCGGCAGATGGTCACGGGAGTTTAGCTCGGGCTAGAGCATTTGACT GTAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCGGGCTAGAGCATTTG ACTGTAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCGGGCTAGCGCAT TTGACTGTAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCGGGCTAGAT CATTTGACTGTAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCGGGCTA GAGCATTTGAA	OR2T1	ENSG00000175143.5	transcript	ENST00000642005.1	protein_coding		933		chr1	TogoVar
PDE1C_chr7_31746179_32075407	31886791	T T	TTTCGGAT others(788): Show TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT ATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCA GAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCT TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCA GAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCT TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	262	0.0038	795	c.129 others(812): Show c.129-5932_129-5931insTAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAAAAGATCTATTCTG AATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAG ATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTA TTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTG AATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAG ATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTA TTCTGAAAAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCCGAAAAGATCTA TTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTA TTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTA TTCTGAAAAGATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTA TTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTA TTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTA TTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTA TTCTGAGTAGATCCGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886791	T T	TTTCGGAT others(788): Show TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTATTCAGAATAGATCTTTTCAGAATAGATCTTTTCAGAATAGATCT ATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCA GAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATA GATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCT ATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCA GAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATA GATCTTTTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0210 a0001c0001t0002g0210	1	262	0.0038	795	c.129 others(812): Show c.129-5932_129-5931insTAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAAAAG ATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTA TTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTA TTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTA TTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTA TTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTA TTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTA TTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTA TTCTGAGTAGATCCGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886791	T T	TTTCGGAT others(788): Show TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCT ATTCAGAATAGATCTTTTCAGAATAGATCTATTCTGAATAGATCTTTTCA GAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATA GATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCT ATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCA GAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATA GATCTTTTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0195 a0001c0005t0001g0195	1	262	0.0038	795	c.129 others(812): Show c.129-5932_129-5931insTAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAAAAGATCTATTCAGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTA TTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTA TTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTA TTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTA TTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTA TTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTA TTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTA TTCTGAGTAGATCCGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(788): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTATTCAGAATA GATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCT ATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCA GAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATA GATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCT ATTCAGAATAGATCTTTTCAGAATAGATCTTTTCAGAATAGATCTATTCA GAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTTTTCAGAATA GATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCT ATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCA GAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATA GATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCT ATTCTGAATAGATCTTTTCAGAATAGATCTATTCTGAATAGATCTTTTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp2 HG02109.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0052 a0001c0001t0003g0116 a0001c0001t0003g0052 a0001c0001t0003g0116	2	262	0.0076	795	c.129 others(812): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAAAAGATCTATTCAGAATAGATCTATTCTG AAAAGATCTATTCAGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAAAAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCCG AAAAGATCTATTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(788): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCT TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCA GAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCT TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCA GAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTTTTCAGAATAGATCTATTCAGAATAGATCTATTCAGAATAGATCT TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCA GAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCT TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCT GAATAGATCTTTTCAGAATAGATCTATTCTGAATAGATCTTTTCAGAATA GATCTATTCTGAATAGATCTTTTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0010 a0001c0006t0003g0010	1	262	0.0038	795	c.129 others(812): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAAAAG ATCTATTCAGAATAGATCTATTCTGAAAAGATCTATTCAGAATAGATCTA TTCTGAAAAGATCTATTCAGAATAGATCTATTCTGAAAAGATCTATTCTG AATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAG ATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTA TTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTG AATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTA TTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTG AATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAG ATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTA TTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTG AATAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCG AAAAGATCTATTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PLXNB2_chr22_50269979_50312646	50276351	A A	AGGGTGCA others(788): Show AGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGCAGC CGCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGCAGCCGCAGGGAGG GGGCGCTGTGGGCACGGCCGAGGGTGCAGCCGCAGGGAGGGGGCGCTGTG GGCACGGCCGAGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCG TGGATGGAGCCACAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGGAGC CACAGGGACGGGCGCTGTGGGCACGGCCGTGGATGGAGCGACAGGGAGGG GCGCTGTGGGCACGGCCGTGGGTGGAGCGACAGGGAGGGGGCGCTGTGGG CAGGGCTGTGGGTGGAGCCACAGGGACCGGCGCTGTGGGCACCGCCCTGG GTGCAGCCGCAGGGAGGGGGCACTGTGGGCACGGCCGTGGGTGCAGCCAC AGGGAGGGGGCGCTGTGGGCATGGCCGTGGATGGAGTGACAGGGAGGGGG CACTGTGGGCACAGCCGTGGGTGGAGCCACAGGGACGGGCGCTGTGGGCA CAGCCGTGGATGGAGCGACAGGGAGGGGGCGCTGTGGGCACGGCCGTGGA TGGAGCAACAGGGAGGGGGCGCTGTGGGCAGGGCTGTGGGTGGAGCCACA GGGACCGGCGCTGTGGGCATGGCCCTGGGTGCAGCCGCAGGGAGGGGGCG CTGTGGGCACGGCCGTGGGTGCAGCCACAGGGAGGGGGCGCTGTGGGCAT GGCCGTGGATGGAGTGACAGGGAGGGGGCGCTGTGGGCACGGCCGT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0019 a0002c0019	a0002c0019t0002 a0002c0019t0002	a0002c0019t0002g0272 a0002c0019t0002g0272	1	302	0.0033	795	c.533 others(812): Show c.5337+277_5337+278insACGGCCGTGCCCACAGCGCCCCCTCCCT GTCACTCCATCCACGGCCATGCCCACAGCGCCCCCTCCCTGTGGCTGCAC CCACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCAGGGCCAT GCCCACAGCGCCGGTCCCTGTGGCTCCACCCACAGCCCTGCCCACAGCGC CCCCTCCCTGTTGCTCCATCCACGGCCGTGCCCACAGCGCCCCCTCCCTG TCGCTCCATCCACGGCTGTGCCCACAGCGCCCGTCCCTGTGGCTCCACCC ACGGCTGTGCCCACAGTGCCCCCTCCCTGTCACTCCATCCACGGCCATGC CCACAGCGCCCCCTCCCTGTGGCTGCACCCACGGCCGTGCCCACAGTGCC CCCTCCCTGCGGCTGCACCCAGGGCGGTGCCCACAGCGCCGGTCCCTGTG GCTCCACCCACAGCCCTGCCCACAGCGCCCCCTCCCTGTCGCTCCACCCA CGGCCGTGCCCACAGCGCCCCTCCCTGTCGCTCCATCCACGGCCGTGCCC ACAGCGCCCGTCCCTGTGGCTCCACCCACGGCCGTGCCCACAGCGCCCCC TCCCTGTGGCTCCATCCACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGC TGCACCCTCGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCTCG GCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCACGGCCGTGCCCA CAGCGCCCCCTCCCTGCGGCTGCACCCACGGCCGTGCCCACAGCGCCCCC TCCCTGCGGCTGCACCC	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding	35/36			chr22	TogoVar
PLXNB2_chr22_50269979_50312646	50276351	A A	AGGGTGCA others(788): Show AGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGCAGC CGCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGCAGCCGCAGGGAGG GGGCGCTGTGGGCACGGCCGAGGGTGCAGCCGCAGGGAGGGGGCGCTGTG GGCACGGCCGAGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCG TGGATGGAGCCACAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGGAGC CACAGGGACGGGCGCTGTGGGCACGGCCGTGGATGGAGCGACAGGGAGGG GCGCTGTGGGCACGGCCGTGGGTGGAGCGACAGGGAGGGGGCGCTGTGGG CAGGGCTGTGGGTGGAGCCACAGGGACCGGCGCTGTGGGCACCGCCCTGG GTGCAGCCGCAGGGAGGGGGCACTGTGGGCACGGCCGTGGGTGCAGCCAC AGGGAGGGGGCGCTGTGGGCATGGCCGTGGATGGAGTGACAGGGAGGGGG CACTGTGGGCACAGCCGTGGGTGGAGCCACAGGGACGGGCGCTGTGGGCA CGGCCGTGGATGGAGCGACAGGGAGGGGCGCTGTGGGCACGGCCGTGGGT GGAGCGACAGGGAGGGGGCGCTGTGGGCAGGGCTGTGGGTGGAGCCACAG GGACCGGCGCTGTGGGCATGGCCCTGGGTGCAGCCGCAGGGAGGGGGGCG CTGTGGGCACGGCCGTGGGTGCAGCCACAGGGAGGGGGCGCTGTGGGCAT GGCCGTGGATGGAGTGACAGGGAGGGGGCGCTGTGGGCACGGCCGT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0100 a0004c0004t0002g0100	1	302	0.0033	795	c.533 others(812): Show c.5337+277_5337+278insACGGCCGTGCCCACAGCGCCCCCTCCCT GTCACTCCATCCACGGCCATGCCCACAGCGCCCCCTCCCTGTGGCTGCAC CCACGGCCGTGCCCACAGCGCCCCCCTCCCTGCGGCTGCACCCAGGGCCA TGCCCACAGCGCCGGTCCCTGTGGCTCCACCCACAGCCCTGCCCACAGCG CCCCCTCCCTGTCGCTCCACCCACGGCCGTGCCCACAGCGCCCCTCCCTG TCGCTCCATCCACGGCCGTGCCCACAGCGCCCGTCCCTGTGGCTCCACCC ACGGCTGTGCCCACAGTGCCCCCTCCCTGTCACTCCATCCACGGCCATGC CCACAGCGCCCCCTCCCTGTGGCTGCACCCACGGCCGTGCCCACAGTGCC CCCTCCCTGCGGCTGCACCCAGGGCGGTGCCCACAGCGCCGGTCCCTGTG GCTCCACCCACAGCCCTGCCCACAGCGCCCCCTCCCTGTCGCTCCACCCA CGGCCGTGCCCACAGCGCCCCTCCCTGTCGCTCCATCCACGGCCGTGCCC ACAGCGCCCGTCCCTGTGGCTCCACCCACGGCCGTGCCCACAGCGCCCCC TCCCTGTGGCTCCATCCACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGC TGCACCCTCGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCTCG GCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCACGGCCGTGCCCA CAGCGCCCCCTCCCTGCGGCTGCACCCACGGCCGTGCCCACAGCGCCCCC TCCCTGCGGCTGCACCC	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding	35/36			chr22	TogoVar
PLXNB2_chr22_50269979_50312646	50276351	A A	AGGGTGCA others(788): Show AGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGCAGC CGCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGCAGCCGCAGGGAGG GGGCGCTGTGGGCACGGCCGAGGGTGCAGCCGCAGGGAGGGGGCGCTGTG GGCACGGCCGAGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCG TGGATGGAGCCACAGGGAGGGGGGCGCTGTGGGCACGGCCGTGGGTGGAG CCACAGGGACGGGCGCTGTGGGCACGGCCGTGGATGGAGCGACAGGGAGG GGCGCTGTGGGCACGGCCGTGGGTGGAGCGACAGGGAGGGGGCGCTGTGG GCAGGGCTGTGGGTGGAGCCACAGGGACCGGCGCTGTGGGCACCGCCCTG GGTGCAGCCGCAGGGAGGGGGCACTGTGGGCACGGCCGTGGGTGCAGCCA CAGGGAGGGGGCGCTGTGGGCATGGCCGTGGATGGAGTGACAGGGAGGGG GCACTGTGGGCACAGCCGTGGGTGGAGCCACAGGGACGGGCGCTGTGGGC ACAGCCGTGGATGGAGCGACAGGGAGGGGCGCTGTGGGCACGGCCGTGGG TGGAGCGACAGGGAGGGGGCGCTGTGGGCAGGGCTGTGGGTGGAGCCACA GGGACCGGCGCTGTGGGCATGGCCCTGGGTGCAGCCGCAGGGAGGGGGCG CTGTGGGCACGGCCGTGGGTGCAGCCACAGGGAGGGGGCGCTGTGGGCAT GGCCGTGGATGGAGTGACAGGGAGGGGGCGCTGTGGGCACGGCCGT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0009 a0001c0002t0009g0009	1	302	0.0033	795	c.533 others(812): Show c.5337+277_5337+278insACGGCCGTGCCCACAGCGCCCCCTCCCT GTCACTCCATCCACGGCCATGCCCACAGCGCCCCCTCCCTGTGGCTGCAC CCACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCAGGGCCAT GCCCACAGCGCCGGTCCCTGTGGCTCCACCCACAGCCCTGCCCACAGCGC CCCCTCCCTGTCGCTCCACCCACGGCCGTGCCCACAGCGCCCCTCCCTGT CGCTCCATCCACGGCTGTGCCCACAGCGCCCGTCCCTGTGGCTCCACCCA CGGCTGTGCCCACAGTGCCCCCTCCCTGTCACTCCATCCACGGCCATGCC CACAGCGCCCCCTCCCTGTGGCTGCACCCACGGCCGTGCCCACAGTGCCC CCTCCCTGCGGCTGCACCCAGGGCGGTGCCCACAGCGCCGGTCCCTGTGG CTCCACCCACAGCCCTGCCCACAGCGCCCCCTCCCTGTCGCTCCACCCAC GGCCGTGCCCACAGCGCCCCTCCCTGTCGCTCCATCCACGGCCGTGCCCA CAGCGCCCGTCCCTGTGGCTCCACCCACGGCCGTGCCCACAGCGCCCCCC TCCCTGTGGCTCCATCCACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGC TGCACCCTCGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCTCG GCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCACGGCCGTGCCCA CAGCGCCCCCTCCCTGCGGCTGCACCCACGGCCGTGCCCACAGCGCCCCC TCCCTGCGGCTGCACCC	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding	35/36			chr22	TogoVar
PLXNB2_chr22_50269979_50312646	50276351	A A	AGGGTGCA others(788): Show AGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGCAGC CGCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGCAGCCGCAGGGAGG GGGCGCTGTGGGCACGGCCGAGGGTGCAGCCGCAGGGAGGGGGCGCTGTG GGCACGGCCGAGGGTGCAGCCGCAGGGAGGGGGGCGCTGTGGGCACGGCC GTGGATGGAGCCACAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGGAG CCACAGGGACGGGCGCTGTGGGCACGGCCGTGGATGGAGCGACAGGGAGG GGCGCTGTGGGCACGGCCGTGGGTGGAGCGACAGGGAGGGGGCGCTGTGG GCAGGGCTGTGGGTGGAGCCACAGGGACCGGCGCTGTGGGCACCGCCCTG GGTGCAGCCGCAGGGAGGGGGCACTGTGGGCACGGCCGTGGGTGCAGCCA CAGGGAGGGGGCGCTGTGGGCATGGCCGTGGATGGAGTGACAGGGAGGGG GCACTGTGGGCACAGCCGTGGGTGGAGCCACAGGGACGGGCGCTGTGGGC ACAGCCGTGGATGGAGCGACAGGGAGGGGCGCTGTGGGCACGGCCGTGGG TGGAGCGACAGGGAGGGGGCGCTGTGGGCAGGGCTGTGGGTGGAGCCACA GGGACCGGCGCTGTGGGCATGGCCCTGGGTGCAGCCGCAGGGAGGGGGCG CTGTGGGCACGGCCGTGGGTGCAGCCACAGGGAGGGGGCGCTGTGGGCAT GGCCGTGGATGGAGTGACAGGGAGGGGGCGCTGTGGGCACGGCCGT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0010 a0010	a0010c0020 a0010c0020	a0010c0020t0002 a0010c0020t0002	a0010c0020t0002g0104 a0010c0020t0002g0104	1	302	0.0033	795	c.533 others(812): Show c.5337+277_5337+278insACGGCCGTGCCCACAGCGCCCCCTCCCT GTCACTCCATCCACGGCCATGCCCACAGCGCCCCCTCCCTGTGGCTGCAC CCACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCAGGGCCAT GCCCACAGCGCCGGTCCCTGTGGCTCCACCCACAGCCCTGCCCACAGCGC CCCCTCCCTGTCGCTCCACCCACGGCCGTGCCCACAGCGCCCCTCCCTGT CGCTCCATCCACGGCTGTGCCCACAGCGCCCGTCCCTGTGGCTCCACCCA CGGCTGTGCCCACAGTGCCCCCTCCCTGTCACTCCATCCACGGCCATGCC CACAGCGCCCCCTCCCTGTGGCTGCACCCACGGCCGTGCCCACAGTGCCC CCTCCCTGCGGCTGCACCCAGGGCGGTGCCCACAGCGCCGGTCCCTGTGG CTCCACCCACAGCCCTGCCCACAGCGCCCCCTCCCTGTCGCTCCACCCAC GGCCGTGCCCACAGCGCCCCTCCCTGTCGCTCCATCCACGGCCGTGCCCA CAGCGCCCGTCCCTGTGGCTCCACCCACGGCCGTGCCCACAGCGCCCCCT CCCTGTGGCTCCATCCACGGCCGTGCCCACAGCGCCCCCCTCCCTGCGGC TGCACCCTCGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCTCG GCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCACGGCCGTGCCCA CAGCGCCCCCTCCCTGCGGCTGCACCCACGGCCGTGCCCACAGCGCCCCC TCCCTGCGGCTGCACCC	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding	35/36			chr22	TogoVar
PRB2_chr12_11386540_11400567	11398223	T T	TTATGCAG others(788): Show TTATGCAGCCAAAAAACACATGAAAAAATGCTCATCATCACTGGCCATCA GAGAAATGCAAATCAAAACCACAATGAGATACCATCTCACACCAGTTAGA ATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGTAGGGGATGTGG TGAAATAGGAACACTTTTACACTGTTAGTGGGACTGTAAACTAGTTCAAC CATTGTGGAAGTCAGTGTGGTGATTCCTCAGGGTTCTAGAACTAGAAATA CCATTTGACCCAGCCATCCCATTACCGGGTATATACCCAAAGGATTATAA ATCATGCTGCTATAAAGACAAATTCACATGTATGTTTATTGCAGCACTAT TCACAATAGCAAAGACTTGGAACCAACCCAAATGTACAACAACTATAGAC TGGATTAAGAAAATGTGGCACATATACAGGATGGAATACTATGCAGCCAT AAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAACTGGAAA CCATCATTCTCAGCAAACTATCACAAGGACAAAAAACCAAACACCACATG TTCTCACTCATAGATGGGAATTGAACAATGAGAACACATGGACACAGGAA GGGGAACATCACACACCAGGGACTGTTGTGGGGTGGGGGAGCAGGGAGGG ATAGCATTAGGAGATATACCTAATGCTAAATGACGAGTTAATGGGTGCAG CACACCAACATGGCACATGTATACATATGTAACAAACCTGCACGTTGTGC ACATGTACCCTAAAACTTAAAGTATAATAATAATAAAATTTTTTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG04228.hp1 NA18941.hp1 others(1): Show HG03831.hp1 HG04228.hp1 NA18941.hp1 NA19063.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0002 a0008c0010t0001 a0008c0010t0002	a0008c0010t0001g0052 a0008c0010t0001g0053 a0008c0010t0002g0050 others(1): Show a0008c0010t0001g0052 a0008c0010t0001g0053 a0008c0010t0002g0050 a0008c0010t0002g0051	4	410	0.0098	795	c.-26 others(806): Show c.-2695_-2694insTAAAAAAATTTTATTATTATTATACTTTAAGTTT TAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGC CATGTTGGTGTGCTGCACCCATTAACTCGTCATTTAGCATTAGGTATATC TCCTAATGCTATCCCTCCCTGCTCCCCCACCCCACAACAGTCCCTGGTGT GTGATGTTCCCCTTCCTGTGTCCATGTGTTCTCATTGTTCAATTCCCATC TATGAGTGAGAACATGTGGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGC TGAGAATGATGGTTTCCAGTTTCATCCATGTCCCTACAAAGGACATGAAC TCATCATTTTTTATGGCTGCATAGTATTCCATCCTGTATATGTGCCACAT TTTCTTAATCCAGTCTATAGTTGTTGTACATTTGGGTTGGTTCCAAGTCT TTGCTATTGTGAATAGTGCTGCAATAAACATACATGTGAATTTGTCTTTA TAGCAGCATGATTTATAATCCTTTGGGTATATACCCGGTAATGGGATGGC TGGGTCAAATGGTATTTCTAGTTCTAGAACCCTGAGGAATCACCACACTG ACTTCCACAATGGTTGAACTAGTTTACAGTCCCACTAACAGTGTAAAAGT GTTCCTATTTCACCACATCCCCTACAGCACCTGTTGTTTCCTGACTTTTT AATGATTGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTGA TTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTTTTCATGTGTTTT TTGGCTGCATA	PRB2	ENSG00000121335.12	transcript	ENST00000389362.6	protein_coding		2657		chr12	TogoVar
PRB2_chr12_11386540_11400567	11398223	T T	TTATGCAG others(788): Show TTATGCAGCCAAAAAACACATGAAAAAATGCTCATCATCACTGGCCATCA GAGAAATGCAAATCAAAACCACAATGAGATACCATCTCACACCAGTTAGA ATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGTAGGGGATGTGG TGAAATAGGAACACTTTTACACTGTTAGTGGGACTGTAAACTAGTTCAAC CATTGTGGAAGTCAGTGTGGTGATTCCTCAGGGTTCTAGAACTAGAAATA CCATTTGACCCAGCCATCCCATTACCGGGTATATACCCAAAGGATTATAA ATCATGCTGCTATAAAGACAAATTCACATGTATGTTTATTGCAGCACTAT TCACAATAGCAAAGACTTGGAACCAACCCAAATGTACAACAACTATAGAC TGGATTAAGAAAATGTGGCACATATACAGGATGGAATACTATGCAGCCAT AAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAACTGGAAA CCATCATTCTCAGCAAACTATCACAAGGACAAAAAACCAAACACCACATG TTCTCACTCATAGATGGGAATTGAACAATGAGAACACATGGACACAGGAA GGGGAACATCACACACCAGGGACTGTTGTGGGGTGGGGGAGCAGGGAGGG ATAGCATTAGGAGATATACCTAATGCTAAATGATGAGTTAATGGGTGCAG CACACCAACATGGCACATGTATACATATGTAACAAACCTGCACGTTGTGC ACATGTACCCTAAAACTTAAAGTATAATAATAATAAAATTTTTTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01168.hp1 HG00735.hp1 HG01168.hp1	a0012 a0012	a0012c0012 a0012c0012	a0012c0012t0001 a0012c0012t0001	a0012c0012t0001g0048 a0012c0012t0001g0049 a0012c0012t0001g0048 a0012c0012t0001g0049	2	410	0.0049	795	c.-26 others(806): Show c.-2695_-2694insTAAAAAAATTTTATTATTATTATACTTTAAGTTT TAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGC CATGTTGGTGTGCTGCACCCATTAACTCATCATTTAGCATTAGGTATATC TCCTAATGCTATCCCTCCCTGCTCCCCCACCCCACAACAGTCCCTGGTGT GTGATGTTCCCCTTCCTGTGTCCATGTGTTCTCATTGTTCAATTCCCATC TATGAGTGAGAACATGTGGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGC TGAGAATGATGGTTTCCAGTTTCATCCATGTCCCTACAAAGGACATGAAC TCATCATTTTTTATGGCTGCATAGTATTCCATCCTGTATATGTGCCACAT TTTCTTAATCCAGTCTATAGTTGTTGTACATTTGGGTTGGTTCCAAGTCT TTGCTATTGTGAATAGTGCTGCAATAAACATACATGTGAATTTGTCTTTA TAGCAGCATGATTTATAATCCTTTGGGTATATACCCGGTAATGGGATGGC TGGGTCAAATGGTATTTCTAGTTCTAGAACCCTGAGGAATCACCACACTG ACTTCCACAATGGTTGAACTAGTTTACAGTCCCACTAACAGTGTAAAAGT GTTCCTATTTCACCACATCCCCTACAGCACCTGTTGTTTCCTGACTTTTT AATGATTGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTGA TTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTTTTCATGTGTTTT TTGGCTGCATA	PRB2	ENSG00000121335.12	transcript	ENST00000389362.6	protein_coding		2657		chr12	TogoVar
PRB2_chr12_11386540_11400567	11398223	T T	TTATGCAG others(788): Show TTATGCAGCCAAAAAACACATGAAAAAATGCTCATCATCACTGGCCATCA GAGAAATGCAAATCAAAACCACAATGAGATACCATCTCACACCAGTTAGA ATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGTAGGGGATGTGG TGAAATAGGAACACTTTTACACTGTTAGTGGGACTGTAAACTAGTTCAAC CATTGTGGAAGTCAGTGTGGTGATTCCTCAGGGTTCTAGAACTAGAAATA CCATTTGACCCAGCCATCCCATTACCGGGTATATACCCAAAGGATTATAA ATCATGCTGCTATAAAGACAAATTCACATGTATGTTTATTGCAGCACTAT TCACAATAGCAAAGACTTGGAACCAACCCAAATGTACAACAACTATAGAC TGGATTAAGAAAATGTGGCACATATACAGGATGGAATACTATGCAGCCAT AAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAACTGGAAA CCATCATTCTCAGCAAACTATCACAAGGACAAAAAACCAAACACCACATG TTCTCACTCATAGATGGGAATTGAACAATGAGAACACGTGGACACAGGAA GGGGAACATCACACACCAGGGACTGTTGTGGGGTGGGGGAGCAGGGAGGG ATAGCATTAGGAGATATACCTAATGCTAAATGACGAGTTAATGGGTGCAG CACACCAACATGGCACATGTATACATATGTAACAAACCTGCACGTTGTGC ACATGTACCCTAAAACTTAAAGTATAATAATAATAAAATTTTTTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0007 a0007	a0007c0021 a0007c0021	a0007c0021t0002 a0007c0021t0002	a0007c0021t0002g0046 a0007c0021t0002g0046	1	410	0.0024	795	c.-26 others(806): Show c.-2695_-2694insTAAAAAAATTTTATTATTATTATACTTTAAGTTT TAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGC CATGTTGGTGTGCTGCACCCATTAACTCGTCATTTAGCATTAGGTATATC TCCTAATGCTATCCCTCCCTGCTCCCCCACCCCACAACAGTCCCTGGTGT GTGATGTTCCCCTTCCTGTGTCCACGTGTTCTCATTGTTCAATTCCCATC TATGAGTGAGAACATGTGGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGC TGAGAATGATGGTTTCCAGTTTCATCCATGTCCCTACAAAGGACATGAAC TCATCATTTTTTATGGCTGCATAGTATTCCATCCTGTATATGTGCCACAT TTTCTTAATCCAGTCTATAGTTGTTGTACATTTGGGTTGGTTCCAAGTCT TTGCTATTGTGAATAGTGCTGCAATAAACATACATGTGAATTTGTCTTTA TAGCAGCATGATTTATAATCCTTTGGGTATATACCCGGTAATGGGATGGC TGGGTCAAATGGTATTTCTAGTTCTAGAACCCTGAGGAATCACCACACTG ACTTCCACAATGGTTGAACTAGTTTACAGTCCCACTAACAGTGTAAAAGT GTTCCTATTTCACCACATCCCCTACAGCACCTGTTGTTTCCTGACTTTTT AATGATTGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTGA TTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTTTTCATGTGTTTT TTGGCTGCATA	PRB2	ENSG00000121335.12	transcript	ENST00000389362.6	protein_coding		2657		chr12	TogoVar
PRB2_chr12_11386540_11400567	11398223	T T	TTATGCAG others(788): Show TTATGCAGCCAAAAAACACATGAAAAAATGCTCATCATCACTGGCCATCA GAGAAATGCAAATCAAAACCACAATGAGATACCATCTCACACCAGTTAGA ATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGTAGGGGATGTGG TGAAATAGGAACACTTTTACACTGTTAGTGGGACTGTAAACTAGTTCAAC CATTGTGGAAGTCAGTGTGGTGATTCCTCAGGGTTCTAGAACTAGAAATA CCATTTGACCCAGCCATCCCATTACCGGGTATATACCCAAAGGATTATAA ATCATGCTGCTATAAAGACAAATTCACATGTATGTTTATTGCAGCACTAT TCACAATAGCAAAGACTTGGAACCAACCCAAATGTACAACAACTGTAGAC TGGATTAAGAAAATGTGGCACATATACAGGATGGAATACTATGCAGCCAT AAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAACTGGAAA CCATCATTCTCAGCAAACTATCACAAGGACAAAAAACCAAACACCACATG TTCTCACTCATAGATGGGAATTGAACAATGAGAACACATGGACACAGGAA GGGGAACATCACACACCAGGGACTGTTGTGGGGTGGGGGAGCAGGGAGGG ATAGCATTAGGAGATATACCTAATGCTAAATGACGAGTTAATGGGTGCAG CACACCAACATGGCACATGTATACATATGTAACAAACCTGCACGTTGTGC ACATGTACCCTAAAACTTAAAGTATAATAATAATAAAATTTTTTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp1 NA19003.hp2 NA19083.hp2 NA19003.hp1 NA19003.hp2 NA19083.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0002 a0007c0009t0002	a0007c0009t0002g0028 a0007c0009t0002g0047 a0007c0009t0002g0028 a0007c0009t0002g0047	3	410	0.0073	795	c.-26 others(806): Show c.-2695_-2694insTAAAAAAATTTTATTATTATTATACTTTAAGTTT TAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGC CATGTTGGTGTGCTGCACCCATTAACTCGTCATTTAGCATTAGGTATATC TCCTAATGCTATCCCTCCCTGCTCCCCCACCCCACAACAGTCCCTGGTGT GTGATGTTCCCCTTCCTGTGTCCATGTGTTCTCATTGTTCAATTCCCATC TATGAGTGAGAACATGTGGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGC TGAGAATGATGGTTTCCAGTTTCATCCATGTCCCTACAAAGGACATGAAC TCATCATTTTTTATGGCTGCATAGTATTCCATCCTGTATATGTGCCACAT TTTCTTAATCCAGTCTACAGTTGTTGTACATTTGGGTTGGTTCCAAGTCT TTGCTATTGTGAATAGTGCTGCAATAAACATACATGTGAATTTGTCTTTA TAGCAGCATGATTTATAATCCTTTGGGTATATACCCGGTAATGGGATGGC TGGGTCAAATGGTATTTCTAGTTCTAGAACCCTGAGGAATCACCACACTG ACTTCCACAATGGTTGAACTAGTTTACAGTCCCACTAACAGTGTAAAAGT GTTCCTATTTCACCACATCCCCTACAGCACCTGTTGTTTCCTGACTTTTT AATGATTGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTGA TTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTTTTCATGTGTTTT TTGGCTGCATA	PRB2	ENSG00000121335.12	transcript	ENST00000389362.6	protein_coding		2657		chr12	TogoVar
PRKAG2_chr7_151551127_151882115	151855474	C C	CCACACAC others(788): Show CCACACACCACCCTCCACACACCACCCTCTACCACCCTCCACACACCACC ATCCACACACACCACGCTCCACACACACCGCCCTCCACACACACCATCCT CCACACACACCATCCTCCACACACACCACCCTCCACACACACCGCCCTCC ACACACACCGCCCTCCACACACACCATCCTCCACACACCACCCTCCACAC ACCACCCTCCACACACACCATCCACACACCACCCTCCACACACACCATGC TCCACACACACCGCCCTCCACACACACCATCCTCCACACACACCATGCTC CACACACCACCCTCCACACACCACCCTCTACCACCCTCCACACACCACCA TCCACACACACCACGCTCCACACACACCGCCCTCCACACACACCATCCTC CACACACACCATCCTCCACACACACCACCCTCCACACACACCGCCCTCCA CACACACCGCCCTCCACACACACCGCCCTCCACACACACCATCCTCCACA CACACCACCCTCCACACACACCACCCTCCACACACACCACCCTCCACACA CACCACGCTCCACACACACCGCCCTCCACACACACCGCCCTCCACACACA CCGCCCTCCACACACACCGCCCTCCACACACACCACCCTCCACACACACC ACCCTCCACACACCACCCTCCACACACACCACCCTCCACACACCGCCCTC CACACACACCACCCTCCACACACCGCCCTCCACACACACCATGCTCCACA CACACCGCCCTCCACACACACCGCCCTCCACACACACCATCCTCCA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0142 a0001c0001t0001g0143	2	252	0.0079	795	c.114 others(814): Show c.114+21032_114+21033insTGGAGGATGGTGTGTGTGGAGGGCGG TGTGTGTGGAGGGCGGTGTGTGTGGAGCATGGTGTGTGTGGAGGGCGGTG TGTGGAGGGTGGTGTGTGTGGAGGGCGGTGTGTGGAGGGTGGTGTGTGTG GAGGGTGGTGTGTGGAGGGTGGTGTGTGTGGAGGGTGGTGTGTGTGGAGG GCGGTGTGTGTGGAGGGCGGTGTGTGTGGAGGGCGGTGTGTGTGGAGGGC GGTGTGTGTGGAGCGTGGTGTGTGTGGAGGGTGGTGTGTGTGGAGGGTGG TGTGTGTGGAGGGTGGTGTGTGTGGAGGATGGTGTGTGTGGAGGGCGGTG TGTGTGGAGGGCGGTGTGTGTGGAGGGCGGTGTGTGTGGAGGGTGGTGTG TGTGGAGGATGGTGTGTGTGGAGGATGGTGTGTGTGGAGGGCGGTGTGTG TGGAGCGTGGTGTGTGTGGATGGTGGTGTGTGGAGGGTGGTAGAGGGTGG TGTGTGGAGGGTGGTGTGTGGAGCATGGTGTGTGTGGAGGATGGTGTGTG TGGAGGGCGGTGTGTGTGGAGCATGGTGTGTGTGGAGGGTGGTGTGTGGA TGGTGTGTGTGGAGGGTGGTGTGTGGAGGGTGGTGTGTGGAGGATGGTGT GTGTGGAGGGCGGTGTGTGTGGAGGGCGGTGTGTGTGGAGGGTGGTGTGT GTGGAGGATGGTGTGTGTGGAGGATGGTGTGTGTGGAGGGCGGTGTGTGT GGAGCGTGGTGTGTGTGGATGGTGGTGTGTGGAGGGTGGTAGAGGGTGGT GTGTGGAGGGTGGTGTGTG	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRKAG2_chr7_151551127_151882115	151855474	C C	CCACACAC others(788): Show CCACACACCACCCTCCACACACCACCCTCTACCACCCTCCACACACCACC ATCCACACACACCACGCTCCACACACACCGCCCTCCACACACACCATCCT CCACACACACCATCCTCCACACACACCACCCTCCACACACACCGCCCTCC ACACACACCGCCCTCCACACACACCGCCCTCCACACACACCATCCTCCAC ACACCACCCTCCACACACCACCCTCCACACACACCATCCACACACCACCC TCCACACACACCATGCTCCACACACACCGCCCTCCACACACACCATCCTC CACACACACCATGCTCCACACACCACCCTCCACACACCACCCTCTACCAC CCTCCACACACCACCATCCACACACACCACGCTCCACACACACCGCCCTC CACACACACCATCCTCCACACACACCATCCTCCACACACACCACCCTCCA CACACACCGCCCTCCACACACACCGCCCTCCACACACACCATCCTCCACA CACACCACCCTCCACACACACCACCCTCCACACACACCACCCTCCACACA CACCACGCTCCACACACACCGCCCTCCACACACACCGCCCTCCACACACA CCGCCCTCCACACACACCACCCTCCACACACACCACCCTCCACACACACC ACCCTCCACACACCACCCTCCACACACACCACCCTCCACACACCGCCCTC CACACACACCACCCTCCACACACCGCCCTCCACACACACCATGCTCCACA CACACCGCCCTCCACACACACCGCCCTCCACACACACCATCCTCCA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0017 a0001c0002t0007g0017	1	252	0.0040	795	c.114 others(814): Show c.114+21032_114+21033insTGGAGGATGGTGTGTGTGGAGGGCGG TGTGTGTGGAGGGCGGTGTGTGTGGAGCATGGTGTGTGTGGAGGGCGGTG TGTGGAGGGTGGTGTGTGTGGAGGGCGGTGTGTGGAGGGTGGTGTGTGTG GAGGGTGGTGTGTGGAGGGTGGTGTGTGTGGAGGGTGGTGTGTGTGGAGG GTGGTGTGTGTGGAGGGCGGTGTGTGTGGAGGGCGGTGTGTGTGGAGGGC GGTGTGTGTGGAGCGTGGTGTGTGTGGAGGGTGGTGTGTGTGGAGGGTGG TGTGTGTGGAGGGTGGTGTGTGTGGAGGATGGTGTGTGTGGAGGGCGGTG TGTGTGGAGGGCGGTGTGTGTGGAGGGTGGTGTGTGTGGAGGATGGTGTG TGTGGAGGATGGTGTGTGTGGAGGGCGGTGTGTGTGGAGCGTGGTGTGTG TGGATGGTGGTGTGTGGAGGGTGGTAGAGGGTGGTGTGTGGAGGGTGGTG TGTGGAGCATGGTGTGTGTGGAGGATGGTGTGTGTGGAGGGCGGTGTGTG TGGAGCATGGTGTGTGTGGAGGGTGGTGTGTGGATGGTGTGTGTGGAGGG TGGTGTGTGGAGGGTGGTGTGTGGAGGATGGTGTGTGTGGAGGGCGGTGT GTGTGGAGGGCGGTGTGTGTGGAGGGCGGTGTGTGTGGAGGGTGGTGTGT GTGGAGGATGGTGTGTGTGGAGGATGGTGTGTGTGGAGGGCGGTGTGTGT GGAGCGTGGTGTGTGTGGATGGTGGTGTGTGGAGGGTGGTAGAGGGTGGT GTGTGGAGGGTGGTGTGTG	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
RCBTB2_chr13_48483963_48538080	48527356	T T	TATATATA others(788): Show TATATATATGATATATATATATGATATATATATATGATATATATATATGA TATATATATATGATATATATATATGATATATATATATGATATATATATGA TATATATATATGATATATATATATGATATATATATATGATATATATATAT GATATATATATATGATATATATATATGATATATATATATGATATATATAT GATATATATATATGATATATATATATGATATATATATATGATATATATAT ATGATATATATATATGATATATATATATGATATATATATATGATATATAT ATATGATATATATATATGATATATATATATGATATATATATATGATATAT ATATGATATATATATGATATATATATGATATATATATGATATATATATGA TATATATATGATATATATATGATATATATATATGATATATATATATGATA TATATATATGATATATATATATGATATATATATATGATATATATATATGA TATATATATGATATATATATGATATATATATGATATATATGATATATATA TGATATATATATGATATATATATGATATATATATATGATATATATATGAT ATATATATATGATATATATATATGATATATATATATGATATATATATGAT ATATATATATGATATATATATATGATATATATATATGATATATATATATG ATATATATATGATATATATATGATATATATATATGATATATATATATGAT ATATATATATGATATATATATGATATATATATATGATATATATATG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0062 a0001c0005t0002g0062	1	320	0.0031	795	c.-21 others(814): Show c.-218-2600_-218-2599insCATATATATATCATATATATATATCA TATATATATCATATATATATATCATATATATATATCATATATATATATCA TATATATATCATATATATATCATATATATATATCATATATATATATCATA TATATATATCATATATATATATCATATATATATCATATATATATATCATA TATATATATCATATATATATATCATATATATATCATATATATATATCATA TATATATCATATATATATCATATATATATCATATATATCATATATATATC ATATATATATCATATATATATCATATATATATATCATATATATATATCAT ATATATATATCATATATATATATCATATATATATATCATATATATATATC ATATATATATCATATATATATCATATATATATCATATATATATCATATAT ATATCATATATATATCATATATATATCATATATATATATCATATATATAT ATCATATATATATATCATATATATATATCATATATATATATCATATATAT ATATCATATATATATATCATATATATATATCATATATATATATCATATAT ATATATCATATATATATATCATATATATATCATATATATATATCATATAT ATATATCATATATATATATCATATATATATATCATATATATATATCATAT ATATATATCATATATATATATCATATATATATCATATATATATATCATAT ATATATATCATATATATATATCATATATATATATCATATATATATATCAT ATATATATATCATATATAT	RCBTB2	ENSG00000136161.13	transcript	ENST00000344532.8	protein_coding	1/14			chr13	TogoVar
RPA3_chr7_7631518_7723607	7679098	C C	CATATATT others(788): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAG TTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATAT TTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTAT ATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATAT TTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATAT ATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAA ATATATATTTATATATTTAGTTTATAAATATATATTTATTTAGTTTATAA ATATATATTTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAA ATACATATTTACATATTTAGTTTATAAATATTTACATATTTAGTTTATAA ATACATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTT ATAAATACATATTTATATATTTAGTTTATAAATACATATTTATATATTTA GTTTATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTA TATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATA AATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTT AGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0034 a0001c0001t0004g0034	1	308	0.0033	795	c.-75 others(814): Show c.-758+6731_-758+6732insATTTATCTATAAACTAAATATATAAA TATATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAAC TAAATATATAAATATATATTTATCTATAAATTAAATATATAAATATATAT TTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAATAT ATAAATATATATTTATAAACTAAATATATAAATATGTATTTATAAACTAA ATATATAAATATGTATTTATAAACTAAATATGTAAATATGTATTTATAAA CTAAATATGTAAATATGTATTTATAAACTAAATATGTAAATATTTATAAA CTAAATATGTAAATATGTATTTATAAACTAAATAAATATATATTTATAAA CTAAATATGTAAATATATATTTATAAACTAAATAAATATATATTTATAAA CTAAATATATAAATATATATTTATAAACTAAATATATAAATATATATTTA TAAACTAAATATATAAATATATATTTATAAACTAAATATATAAATATATA TTTATAAACTAAATATATAAATATATGTTTATAAACTAAATATATAAATA TATGTTTATAAACTAAATATATAAATATATGTTTATAAACTAAATATATA AATATATGTTTATAAACTAAATATATAAATATATGTTTATAAACTAAATA TATAAATATATGTTTATAAACTAAATATATAAATATATGTTTATAAACTA AATATATAAATATATGTTTATAAACTAAATATATAAATATATGTTTATAA ACTAAATATATAAATATAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
SHANK1_chr19_50654255_50724802	50678994	G G	GATGGGGA others(788): Show GATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAAAGGT CAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGG GAGGGGTCAGGGTGTGGGGAGGGGTCAGGATGATGGGGAGGGGTCAGGGT GATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGGAGGGGT CAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGG AGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTG TGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAG GATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGG GGTCAAGATGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATG GGGAGGGGTCAGGGTGTGGGGAGGGGTGAGGGTGATGGGGAGGGGTCAGG GTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGG TCAGGGTGATGGGAAGGGGTCAGGGTTACAAGCATTACAGGTAAGGGGTG AGGGTGATGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGTGTGATGGAG AGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGT GATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGT CAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0022 a0001c0003t0022	a0001c0003t0022g0243 a0001c0003t0022g0243	1	316	0.0032	795	c.257 others(814): Show c.2578-6881_2578-6880insTCACCCTGACCCCTCCCCATCACCCT GACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCAT CACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCC TCCCCATCACCCTGACCCCTCTCCATCACACTGACCCCTCTCCATCACAC TGACACCCCCCCATCACCCTCACCCCTTACCTGTAATGCTTGTAACCCTG ACCCCTTCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATC ACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTCACCCCTC CCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGAC CCCTCCCCATCATCTTGACCCCTCCCCACACCCTGACCCCTCCCCATCAC CCTGACCCCTCCCCATCATCCTGACCCCTCCCCACACCCTGACCCCTCCC CACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCC CTCCCCACACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCACACCCT GACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCA CACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCCTGACCCC TCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCT GACCCCTCCCCATCACCCTGACCTTTCCCCATCACCCTGACCCCTCCCCA CACCCTGACCCCTCCCCAT	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SLIT3_chr5_168656740_169306139	168726538	G G	GAGGGAGG others(788): Show GAGGGAGGCAGGGAGAGAGGGAGAGGGAGGCAGGGAGGGAGGGAGGGAGA GGGAGGCAGGGAGGGAGCGAGGGAGAGGGAGGCAAGGAGGGAGGGAGGGA GAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGCAAGGAGGGAGGGAGG GAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGA GGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGG GAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGAGAGG GAGGGAGGGAGGGAGGGAGGGAGAGGGAGGGAGGGAGGGAGGGAGGGAGA GGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGTGGGAGGGAGGGAGAGG GAGGGTGGGTGGGAGGGAGGGAGAGGGAGGGTGGGAGGGAGAGGGAGGCA GGGAGACAGGGAGGCAGGGAGGGAGGGAGAGGGAGGCAGGGAGACAGGGA GGCAGGGAGGGAGGGAGAGGGAGGCAGGGAGACAGGGAGGCAGGGAGGCA GGGAGAGGGGGAGGCAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGA GGGAGAGGGAGGCAGGGAGGGAGGGAGGGGGAGGGAGGCAGGGAGAGGGA GGCAAGGAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGAGAGGGAGG GAGAGGGAGGCAGGGAGAGAGGGAGGGAGAGGGAGGCAGGGAGGGAGAGG GACGCAGGGGGAGAGGTAGGGAGGGAGAGAGGGAGGGAGGGAGAGA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0006 a0001c0015t0006	a0001c0015t0006g0070 a0001c0015t0006g0070	1	132	0.0076	795	c.227 others(814): Show c.2271-2055_2271-2054insTCTCTCCCTCCCTCCCTCTCTCCCTC CCTACCTCTCCCCCTGCGTCCCTCTCCCTCCCTGCCTCCCTCTCCCTCCC TCTCTCCCTGCCTCCCTCTCCCTCCCTCTCCCTCCCTCCCTGCCTCCCTC TCCCTCCCTCCCTCCTTGCCTCCCTCTCCCTGCCTCCCTCCCCCTCCCTC CCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCCTGCCTCCCTCTCCCTCCC TCCCTGCCTCCCCCTCTCCCTGCCTCCCTGCCTCCCTGTCTCCCTGCCTC CCTCTCCCTCCCTCCCTGCCTCCCTGTCTCCCTGCCTCCCTCTCCCTCCC TCCCTGCCTCCCTGTCTCCCTGCCTCCCTCTCCCTCCCACCCTCCCTCTC CCTCCCTCCCACCCACCCTCCCTCTCCCTCCCTCCCACCCTCCCTCTCCC TCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCTCCCTCCCTCCCTCTC CCTCCCTCCCTCCCTCCCTCCCTCTCCCTCCCTCCCTCTCCCTCCCTCCC ACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTC CCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCC TCCCACCCTCCCTCCCTCTCCCTCCCTCCCTCCTTGCCTCCCTCTCCCTC CCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCTCCTTGCCTCCCTCTCCC TCGCTCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCCTGCCTCCCTCTC CCTCTCTCCCTGCCTCCCT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	20/35			chr5	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(788): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGA GGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGG GGGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGA GGAAAGGAAGGAGGGAGGAAAGGAAAGAGGGAGGGAGGGAGGAAAGGAAG GAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGGGGGAGGAAAGGA AGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGG GAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGA GGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGGGG GAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGA AGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAGG GAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01261.hp1 HG01993.hp1 others(14): Show HG00735.hp1 HG01261.hp1 HG01993.hp1 HG02056.hp2 HG02132.hp2 HG02258.hp2 HG03239.hp1 HG03540.hp2 HG04228.hp2 HG06807.hp2 NA18968.hp2 NA18972.hp1 NA18983.hp1 NA19003.hp2 NA19060.hp2 NA19068.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0026 others(4): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0026 a0001c0001t0052 a0001c0001t0054 a0001c0001t0055 a0001c0001t0059	a0001c0001t0004g0121 a0001c0001t0004g0122 a0001c0001t0004g0124 others(14): Show a0001c0001t0004g0121 a0001c0001t0004g0122 a0001c0001t0004g0124 a0001c0001t0004g0126 a0001c0001t0004g0127 a0001c0001t0004g0129 a0001c0001t0007g0098 a0001c0001t0007g0099 a0001c0001t0007g0100 a0001c0001t0007g0118 a0001c0001t0007g0125 a0001c0001t0026g0119 a0001c0001t0026g0173 a0001c0001t0052g0133 a0001c0001t0054g0134 a0001c0001t0055g0095 a0001c0001t0059g0130	17	322	0.0528	795	c.597 others(812): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTCCTTT CCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCC TCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCCTC CCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCT TTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCC CCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTC CTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCCTCCTTCCT TTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCTTTCCTTT CCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCC TCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCT TTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTTCCTCCCTC CCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTTCCTCCCTCCC TCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCCCTCC CTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
THEG_chr19_356747_381026	376976	C C	CTCTGTAC others(788): Show CTCTGTACCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCC CCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCT CTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGC CTCTCCCCCTCTGTACCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCC AGCCTCTCCCCCCCCGTGCCTCCACCCAGCCTCTCCCCCCCCTGTGCCCC ACCCAGCCTCTCCCCCCCCGTGCCTCCACCCAGCCTCTCCCCCCCCTGTG CCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCT GTACCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCCCCCT CTGTGCCCCCACCCAGCCTCTCCCCCCCCGTGCCTCCACCCAGCCTCTCC CCCCCCTGTGCCTCCACCCAGCCTCTCCCCCCCCTGTGCCCCCACCCAGC CTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCA GCCTCTCCCCCGTGTGCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCC AGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCCCCCTCTGTGCCCCCA CCCAGCCTCTCCCCCCCCGTGCCTCCACCCAGCCTCTCCCCCTGTGTGCC CCACCCAGCCTCTCCCCCGTGTGCCCCACCCAGCCTCTCCCCCCTGTGCC CCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0339 a0001c0009t0001g0339	1	370	0.0027	795	c.-10 others(806): Show c.-1007_-1006insAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGA GAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACACGGGGGA GAGGCTGGGTGGGGCACACAGGGGGAGAGGCTGGGTGGAGGCACGGGGGG GGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGTACAGA GGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGCACA CGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCAC AGAGGGGGAGAGGCTGGGTGGGGGCACAGGGGGGGGAGAGGCTGGGTGGA GGCACAGGGGGGGGAGAGGCTGGGTGGAGGCACGGGGGGGGAGAGGCTGG GTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGC TGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAG GCTGGGTGGGGGCACAGGGGGGGGAGAGGCTGGGTGGAGGCACGGGGGGG GAGAGGCTGGGTGGGGCACAGGGGGGGGAGAGGCTGGGTGGAGGCACGGG GGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGTAC AGAGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGC ACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGG GGGCACAGAGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGG TGGGGTACAGA	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		951		chr19	TogoVar
TP53AIP1_chr11_128930370_128947871	128930542	G G	GGGGTTAG others(788): Show GGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGT TAGGGAGGCCAGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGG GAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGG CCTAGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGG GGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTT AGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGA GGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCT GGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGG GTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGACCAAGGGTCA GGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGA GGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGC CGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGACCAAGG GTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTA GGGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGG AGGCCGGGGTTAGGGAGGCCGGGGTTAGAGAGGCCAGGGGTTAGGGAGGC CAGGGTAGGGAGGCTGGGGGTTAGGAAGGCCGGGGTTAGGGAGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	466	0.0022	795	c.50 others(806): Show c.5048_*5049insGGCCTCCCTAACCCCGGCCTTCCTAACCCCCAGC CTCCCTACCCTGGCCTCCCTAACCCCTGGCCTCTCTAACCCCGGCCTCCC TAACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAA CCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCT GGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCCCTAACCCCGGCC TCCCTAACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCC CTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAAT CCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCCCTAACCCC GGCCTCCCTAACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGT CTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCTGGCCTCC CTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAAC CCCAGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCA GCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTC CCTAACCCTAGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCT AACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCC CTGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCGGC CTCCCTAACCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4827		chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930711	A A	AGGGTAGG others(788): Show AGGGTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTT AGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGA GGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGCCCGGGGTTAGGGAGGCTG GGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTA GGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAG GCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCA GGGTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTA GGGAGGCCAGGGGTTAGGGAGGCCAGGGTTAAGGAGGCCGGGGTTAGGGA GGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCC GGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGT AGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGA GGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCC AGGGTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTT AGGGAGGCCAGGGGTTAGGGAGGCCAGGGTTAAGGAGGCCGGGGTTAGGG AGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGC CGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	466	0.0022	795	c.48 others(806): Show c.4879_*4880insAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCC TCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCTGGCCTCCC TAACCCCGGCCTCCCTAACCCCGGCCTCCTTAACCCTGGCCTCCCTAACC CCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGG CCTCCCTACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCC CTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAAC CCCAGCCTCCCTACCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGC CTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCTGGCCTCC CTAACCCCGGCCTCCCTAACCCCGGCCTCCTTAACCCTGGCCTCCCTAAC CCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCG GCCTCCCTACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTC CCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAA CCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTACCCTGG CCTCCCTAACCCCAGCCTCCCTAACCCCGGGCTCCCTAACCCCAGCCTCC CTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAAC CCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCAG CCTCCCTACCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4658		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273442	A A	ATATATAT others(788): Show ATATATATAAAAATTATATATATTATATATATATAAAAATTATATATATT ATATATAAAAATTATATATATATTATATATATATAAAATTATATATATAT TATATATATATAAAAATTATATATATTATATATATATAAAAATTATATAT ATATTATATATATATAAAAATTATATATATATTATATATATATAAAAATT ATATATATATTATATATATATAAAAATTATATATATATTATATATATATA AAAATTATATATATATTATATATATATAAAAATTATATATATATTATATA TATATATAAATTATATATATATTATATATATATAAAAATTATATATATAT TATATATATATAAAAATTATATATATATTATATATATATAAAAATTATAT ATATATTATATATATATAAAAATTATATATATTATATATATATAAAAATT ATATATATATTATATATATATAAAAATTATATATATATATTATATATATA TAAAAATTATATATATATATTATATATATATAAAAATTATATATATATTA TATATATATAAAAATTATATATATATTATATATATATAAAAATTATATAT ATATTATATATATATAAAAATTATATATATATTATATATATATAAAAATT ATATATATTATATATATATAAAAATTATATATATATTATATATATATAAA AATTATATATATTATATATATATAAAAATTATATATATATTATATATATA AAAATTATATATATATATTATATATATATAAAAATTATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	272	0.0037	795	c.30 others(806): Show c.3007_*3008insTATATATAAAAATTATATATATTATATATATATA AAAATTATATATATTATATATAAAAATTATATATATATTATATATATATA AAATTATATATATATTATATATATATAAAAATTATATATATTATATATAT ATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTAT ATATATATAAAAATTATATATATATTATATATATATAAAAATTATATATA TATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTA TATATATATTATATATATATATAAATTATATATATATTATATATATATAA AAATTATATATATATTATATATATATAAAAATTATATATATATTATATAT ATATAAAAATTATATATATATTATATATATATAAAAATTATATATATTAT ATATATATAAAAATTATATATATATTATATATATATAAAAATTATATATA TATATTATATATATATAAAAATTATATATATATATTATATATATATAAAA ATTATATATATATTATATATATATAAAAATTATATATATATTATATATAT ATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTAT ATATATATAAAAATTATATATATTATATATATATAAAAATTATATATATA TTATATATATATAAAAATTATATATATTATATATATATAAAAATTATATA TATATTATATATATAAAAATTATATATATATATTATATATATATAAAAAT TATATATATAT	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2329		chr11	TogoVar
TWIST2_chr2_238843085_238915534	238870354	C C	CCCCCACA others(788): Show CCCCCACACACCACACACCCCACACACACCACACCCCATACACACCACAC CCCACACACACCACACACCCCCCACACACCACACACCCCACACACACCAC ACCCCATACACACCACACCCCACACACACCACACACCCCCCACACACCAC ACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCAC ACCCCACACACACCACACCCCATACACACCACACCCCACACACACCACAC CCCACACACACCACACCCCACACACACCACACACCCCATACACACCACAC ACCCCCCACACACCACACCCCACACACACCACACACCCCACACACACCAC ACCCCACACACACCACACCCCACACACACCACACCCCACACACACCACAC ACCCCACACACACCACACCCCACACACACCACACACCCCCCACACACCAC ACCCCATACACACCACACACCACACCCCACACACACCACACCCCACACAC ACCACACCCCACACACACCACACACCCCCCACACACCACACCCCACACAC ACCACACACCCCCCACACACCACACACCATACACACCACACCCCACACAC ACCACACCCCCCACACACCACACCCCACACACCACACCCCACACACACCA CACACCACACACACCACACCCCATACACACCACACCCCATACACACCACA CCCCACACACACCACACCCCACACACCACACACCCCACACACACCACACC CCACACACACCACACCCCACACACACCACACCCCCCACACACCACA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	338	0.0030	795	c.35 others(814): Show c.35+21623_*35+21624insCCACACACCACACACCCCACACACAC CACACCCCATACACACCACACCCCACACACACCACACACCCCCCACACAC CACACACCCCACACACACCACACCCCATACACACCACACCCCACACACAC CACACACCCCCCACACACCACACACCCCACACACACCACACCCCACACAC ACCACACCCCACACACACCACACCCCACACACACCACACCCCATACACAC CACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCA CACACCCCATACACACCACACACCCCCCACACACCACACCCCACACACAC CACACACCCCACACACACCACACCCCACACACACCACACCCCACACACAC CACACCCCACACACACCACACACCCCACACACACCACACCCCACACACAC CACACACCCCCCACACACCACACCCCATACACACCACACACCACACCCCA CACACACCACACCCCACACACACCACACCCCACACACACCACACACCCCC CACACACCACACCCCACACACACCACACACCCCCCACACACCACACACCA TACACACCACACCCCACACACACCACACCCCCCACACACCACACCCCACA CACCACACCCCACACACACCACACACCACACACACCACACCCCATACACA CCACACCCCATACACACCACACCCCACACACACCACACCCCACACACCAC ACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCAC ACCCCCCACACACCACACC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238871147	A A	ACACACAC others(788): Show ACACACACCACACACCCCACACACACCACACAAACCACACACCCTACACA CCCCACACACACCACACACCCCACACACACCACACACCCCACACACACCA CACAAACCACACACACCACACACCCCACACACACCACACACACACATCAC ATACCACACACAAACCACACACACACATCACATACCACACACCCGACACA CGCCACACACACACCACACACCCCACGCACACATCACATACCACACACAA ACCACACACCCTACACACACCACACACCCCACACACACCACACACACACA CCACACACACATCACATACCACACACAAACCACACACCCAACACACACAT CACACACCACACACCCCACACACACATCACATACCACACACAAACCACAC ACCCCACACACACATCACATACCACACACAAACCACACACCCCACACACA CCACACACCCCACACACACCACACACCCGACACACGCCACACACACCACA CACCCCACGCACACATCACATACCACACACAAACCACACACCCCACACAC AAGCCACACACCCCACACACACCACACACCCCACACACCCCACACACACC ACACACCCCACACACACACCACACACCCCACACACACATCACATACCACA CACAAACCACACACCCCACACACCCCACACACCCCACACACACCACACAC CCGACACACGCCACACACACACCACACACCCCACGCACACATCACATACC ACACACAAACCACACACCCTACACACCCCACACACCCCACACACAC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	338	0.0030	795	c.35 others(814): Show c.35+22439_*35+22440insCACACAAACCACACACCCTACACACC CCACACACACCACACACCCCACACACACCACACACCCCACACACACCACA CAAACCACACACACCACACACCCCACACACACCACACACACACATCACAT ACCACACACAAACCACACACACACATCACATACCACACACCCGACACACG CCACACACACACCACACACCCCACGCACACATCACATACCACACACAAAC CACACACCCTACACACACCACACACCCCACACACACCACACACACACACC ACACACACATCACATACCACACACAAACCACACACCCAACACACACATCA CACACCACACACCCCACACACACATCACATACCACACACAAACCACACAC CCCACACACACATCACATACCACACACAAACCACACACCCCACACACACC ACACACCCCACACACACCACACACCCGACACACGCCACACACACCACACA CCCCACGCACACATCACATACCACACACAAACCACACACCCCACACACAA GCCACACACCCCACACACACCACACACCCCACACACCCCACACACACCAC ACACCCCACACACACACCACACACCCCACACACACATCACATACCACACA CAAACCACACACCCCACACACCCCACACACCCCACACACACCACACACCC GACACACGCCACACACACACCACACACCCCACGCACACATCACATACCAC ACACAAACCACACACCCTACACACCCCACACACCCCACACACACCACACA CCACACACCCCACACACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TXNDC16_chr14_52425596_52557505	52530465	T T	TAATAATA others(788): Show TAATAATATAATATATATTATTATATATTATTATATATAATAATATAATA TATATTATTATATATAATTATATATAATAATATAATATATATTATTATAT ATAATTATATATAATAATATAATATATATTATTATATATAATTATATATA ATAATATATATTATATTATTATATATAATTATATATAATAATATAATATA TATTATTATATATTATTATATATAATAATATAATATATATTATTATATAT AATTATATATAATAATATAATATATATTATTATATATAATTATATATAAT AATATAATATATATTATTATATATAATTATATATAATAATATAATATATA TTATTATATATAATAATAATATATATATATTATTATATATAATTATATAT AATAATATAATATATATTATTATATATAATTATATATAATAATATAAATA TATTATTATATATAATTATATATAATAATATAAATATATTATTATATATT ATATATAATAATATAATATATATTATATATTATTATATATAATAATATAA TATATATTATATATTATTATATATAATAATATAATATATATTATTATATA TTATTATATATAATAATATAATATATATTATTATATATAATAATATAATA TATATTATTATATATTATTATATATAATAATATATAATAATATAATATAT ATTATTATATATTATTATATATAATAATATAATATATATTATTATATATA ATAATATAATATATATTATTATATATTATTATATATAATAATATAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	238	0.0042	795	c.392 others(812): Show c.392+6253_392+6254insTTATATTATTATATATAATAATATATAA TAATATATATTATATTATTATATATAATAATATATATTATATTATTATAT ATAATAATATATAATAATATATATTATATTATTATATATTATTATATATA ATAATATATAATAATATATATTATATTATTATATATAATAATATATATTA TATTATTATATATAATAATATATAATAATATATATTATATTATTATATAT AATAATATATAATATATATTATATTATTATATATAATAATATATAATATA TATTATATTATTATATATAATATATAATAATATATTTATATTATTATATA TAATTATATATAATAATATATTTATATTATTATATATAATTATATATAAT AATATATATTATATTATTATATATAATTATATATAATAATATATATATAT TATTATTATATATAATAATATATATTATATTATTATATATAATTATATAT AATAATATATATTATATTATTATATATAATTATATATAATAATATATATT ATATTATTATATATAATTATATATAATAATATATATTATATTATTATATA TAATAATATATAATAATATATATTATATTATTATATATAATTATATATAA TAATATAATATATATTATTATATATAATTATATATAATAATATATATTAT ATTATTATATATAATTATATATAATAATATATATTATATTATTATATATA ATTATATATAATAATATATATTATATTATTATATATAATAATATATAATA ATATATATTATATTATT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
UMAD1_chr7_7635752_7884223	7679098	C C	CATATATT others(788): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAG TTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATAT TTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTAT ATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATAT TTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATAT ATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAA ATATATATTTATATATTTAGTTTATAAATATATATTTATTTAGTTTATAA ATATATATTTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAA ATACATATTTACATATTTAGTTTATAAATATTTACATATTTAGTTTATAA ATACATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTT ATAAATACATATTTATATATTTAGTTTATAAATACATATTTATATATTTA GTTTATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTA TATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATA AATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTT AGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAAT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0142 a0001c0001t0015g0142	1	250	0.0040	795	c.82+ others(810): Show c.82+5669_82+5670insAACATATATTTATATATTTAGTTTATAAAC ATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTAT AAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGT TTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATT TAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATA TATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATATT TATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATA TATTTATATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATA TATTTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACA TATTTACATATTTAGTTTATAAATATTTACATATTTAGTTTATAAATACA TATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAA TACATATTTATATATTTAGTTTATAAATACATATTTATATATTTAGTTTA TAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATAT TTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATAT ATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTT ATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTA TATATTTAGTTTATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
XKR6_chr8_10891045_11206833	11026445	A A	AGTCTAGC others(788): Show AGTCTAGCCTACTACACACCTAGATGGTCTAGCCTACTACACACCTAGAT GGTCTAGCCTACTACACACTTAGATGGTCTAGCCTACTACACACCTAGAT GGTCTAGCCTACTAAACTCTTAATGGCGTTGCCTACTACACAACTAGATG GTCTAGCCTACTACACACTTAGATGGTCTAGCCTACTACACACCTAGATG GTCTAGCCTACTAAACTCTTAATGGCGTTGCCTACTACACACCTAGATGG TCTAGCCTACTACACACCTAGATGGTCTAGCCTACTACACACCTAGATGG TCTAGCCTACTACACACTTAGATGGTCTAGCCTACTACACACCTAGATGG TCTAGCCTACTACACTCTTAATGGTGTTGCCTACTACACACCTAGATGGT CTAGCCTACTACACACCTAGATGGTCTAGCCTACTATACACTTAGATAGT GTTGCCTACTACACACCTAAATGGTCTGGCCTACTACACACTTAGATGGT CTAGCCTACTACACACCTAGATGGTCTAGCCTACTACACACTTAGATAGT CTAGCCTACTACACACCTAGATGGTCTAGCCTACTACACACCTAGATGGT CTAGCCTACTACACACTTAGATGGTCTAGCCTACTACACACCTAGATGGT CTAGCCTACTAAACTCTTAATGGCGTTGCCTACTACACACCTAGATGGTC TAGCCTACTACACACTTAGATGGTCTAGCCTACTACACACCTAGATGGTC TAGCCTACTAAACTCTTAATGGCGTTGCCTACTACACACCTAGATG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03130.hp2 HG02723.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0049 a0001c0001t0003 a0001c0001t0049	a0001c0001t0003g0042 a0001c0001t0049g0112 a0001c0001t0003g0042 a0001c0001t0049g0112	2	178	0.0112	795	c.765 others(816): Show c.765-101616_765-101615insCATCTAGGTGTGTAGTAGGCAACG CCATTAAGAGTTTAGTAGGCTAGACCATCTAGGTGTGTAGTAGGCTAGAC CATCTAAGTGTGTAGTAGGCTAGACCATCTAGGTGTGTAGTAGGCAACGC CATTAAGAGTTTAGTAGGCTAGACCATCTAGGTGTGTAGTAGGCTAGACC ATCTAAGTGTGTAGTAGGCTAGACCATCTAGGTGTGTAGTAGGCTAGACC ATCTAGGTGTGTAGTAGGCTAGACTATCTAAGTGTGTAGTAGGCTAGACC ATCTAGGTGTGTAGTAGGCTAGACCATCTAAGTGTGTAGTAGGCCAGACC ATTTAGGTGTGTAGTAGGCAACACTATCTAAGTGTATAGTAGGCTAGACC ATCTAGGTGTGTAGTAGGCTAGACCATCTAGGTGTGTAGTAGGCAACACC ATTAAGAGTGTAGTAGGCTAGACCATCTAGGTGTGTAGTAGGCTAGACCA TCTAAGTGTGTAGTAGGCTAGACCATCTAGGTGTGTAGTAGGCTAGACCA TCTAGGTGTGTAGTAGGCTAGACCATCTAGGTGTGTAGTAGGCAACGCCA TTAAGAGTTTAGTAGGCTAGACCATCTAGGTGTGTAGTAGGCTAGACCAT CTAAGTGTGTAGTAGGCTAGACCATCTAGTTGTGTAGTAGGCAACGCCAT TAAGAGTTTAGTAGGCTAGACCATCTAGGTGTGTAGTAGGCTAGACCATC TAAGTGTGTAGTAGGCTAGACCATCTAGGTGTGTAGTAGGCTAGACCATC TAGGTGTGTAGTAGGCTAGAC	XKR6	ENSG00000171044.11	transcript	ENST00000416569.3	protein_coding	1/2			chr8	TogoVar
XKR6_chr8_10891045_11206833	11026445	A A	AGTCTAGC others(788): Show AGTCTAGCCTACTACACACCTAGATGGTCTAGCCTACTACACACCTAGAT GGTCTAGCCTACTACACACTTAGATGGTCTAGCCTACTACACACCTAGAT GGTCTAGCCTACTAAACTCTTAATGGCGTTGCCTACTACACACCTAGATG GTCTAGCCTACTACACACTTAGATGGTCTAGCCTACTACACACCTAGATG GTCTAGCCTACTAAACTCTTAATGGCGTTGCCTACTACACACCTAGATGG TCTAGCCTACTACACACCTAGATGGTCTAGCCTACTACACACCTAGATGG TCTAGCCTACTACACACTTAGATGGTCTAGCCTACTACACACCTAGATGG TCTAGCCTACTACACTCTTAATGGTGTTGCCTACTACACACCTAGATGGT CTAGCCTACTACACACCTAGATGGTCTAGCCTACTATACACTTAGATAGT GTTGCCTACTACACACCTAAATGGTCTGGCCTACTACACACTTAGATGGT CTAGCCTACTACACACCTAGATGGTCTAGCCTACTACACACTTAGATAGT CTAGCCTACTACACACCTAGATGGTCTAGCCTACTACACACCTAGATGGT CTAGCCTACTACACACTTAGATGGTCTAGCCTACTACACACCTAGATGGT CTAGCCTACTAAACTCTTAATGGCGTTGCCTACTACACACCTAGATGGTC TAGCCTACTACACACTTAGATGGTCTAGCCTACTACACACCTAGATGGTC TAGCCTACTAAACTCTTAATGGCGTTGCCTACTACACACCTAGATG	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02257.hp1 HG02602.hp1 others(12): Show HG02165.hp1 HG02257.hp1 HG02602.hp1 HG02622.hp2 HG02717.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02897.hp2 HG03471.hp2 NA18522.hp2 NA19030.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 others(9): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0016 a0001c0001t0017 a0001c0001t0021 a0001c0001t0024 a0001c0001t0045 a0001c0001t0051	a0001c0001t0003g0067 a0001c0001t0007g0116 a0001c0001t0008g0045 others(12): Show a0001c0001t0003g0067 a0001c0001t0007g0116 a0001c0001t0008g0045 a0001c0001t0010g0123 a0001c0001t0011g0098 a0001c0001t0012g0114 a0001c0001t0016g0069 a0001c0001t0017g0176 a0001c0001t0017g0177 a0001c0001t0017g0178 a0001c0001t0021g0122 a0001c0001t0024g0173 a0001c0001t0024g0174 a0001c0001t0045g0091 a0001c0001t0051g0172	15	178	0.0843	795	c.765 others(816): Show c.765-101616_765-101615insCATCTAGGTGTGTAGTAGGCAACG CCATTAAGAGTTTAGTAGGCTAGACCATCTAGGTGTGTAGTAGGCTAGAC CATCTAAGTGTGTAGTAGGCTAGACCATCTAGGTGTGTAGTAGGCAACGC CATTAAGAGTTTAGTAGGCTAGACCATCTAGGTGTGTAGTAGGCTAGACC ATCTAAGTGTGTAGTAGGCTAGACCATCTAGGTGTGTAGTAGGCTAGACC ATCTAGGTGTGTAGTAGGCTAGACTATCTAAGTGTGTAGTAGGCTAGACC ATCTAGGTGTGTAGTAGGCTAGACCATCTAAGTGTGTAGTAGGCCAGACC ATTTAGGTGTGTAGTAGGCAACACTATCTAAGTGTATAGTAGGCTAGACC ATCTAGGTGTGTAGTAGGCTAGACCATCTAGGTGTGTAGTAGGCAACACC ATTAAGAGTGTAGTAGGCTAGACCATCTAGGTGTGTAGTAGGCTAGACCA TCTAAGTGTGTAGTAGGCTAGACCATCTAGGTGTGTAGTAGGCTAGACCA TCTAGGTGTGTAGTAGGCTAGACCATCTAGGTGTGTAGTAGGCAACGCCA TTAAGAGTTTAGTAGGCTAGACCATCTAGGTGTGTAGTAGGCTAGACCAT CTAAGTGTGTAGTAGGCTAGACCATCTAGGTGTGTAGTAGGCAACGCCAT TAAGAGTTTAGTAGGCTAGACCATCTAGGTGTGTAGTAGGCTAGACCATC TAAGTGTGTAGTAGGCTAGACCATCTAGGTGTGTAGTAGGCTAGACCATC TAGGTGTGTAGTAGGCTAGAC	XKR6	ENSG00000171044.11	transcript	ENST00000416569.3	protein_coding	1/2			chr8	TogoVar
ABCB11_chr2_168915781_169036324	168975298	T T	TAGATAAA others(789): Show TAGATAAATATATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATATAAATATTTATATATTTATAGATAAATGTATAAATATATA AATATTTATATATTTATAGATAAATATATAAATATATAAATATTTATATA TTTATAGATAAATATATAAATATATAAATATTTATAGATAAATAGATAAA TATATAAATATTTATATATTTATAGATAAATATATAAATATTTATATATT TATCTATAAATATATAAATATTTATATATTTATAGATAAATATATAA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	306	0.0033	796	c.130 others(815): Show c.1308+1278_1308+1279insTTATATATTTATCTATAAATATATAA ATATTTATATATTTATAGATAAATATATAAATATTTATATATTTATCTAT AAATATATAAATATTTATATATTTATCTATTTATCTATAAATATTTATAT ATTTATATATTTATCTATAAATATATAAATATTTATATATTTATATATTT ATCTATAAATATATAAATATTTATATATTTATACATTTATCTATAAATAT ATAAATATTTATATATTTATACATTTATCTATAAATATAAAAATATTTAT ACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAA AAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCT ATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTAT ACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAA AAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCT ATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTAT ACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAA AAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCT ATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTAT ACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAA AAATATTTATATATTTATCT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ADAMTS17_chr15_99966437_100346975	100058226	A A	ACCCCTAT others(789): Show ACCCCTATCCCGGCTCTAACACCCCCTATCCCGGCTCTAACCCCTCCTAT CCCAGCTCTTAACACCCCTATCCCGGCTCTTAACACCCCTATCCCGGCTC TAACACCCCTATCCCGGCTCTAACCCTCCTATCCCGGCTCTAACCCTCCT ATCCCGGCTCTAACACCCCTATCCCGGCTCTAACCCTCCTATCCCGGGCT CTTAACACCCCTATCCCGGCTCTAACACCCCTATCCCGGCTCTAACACCC CCTATCCCGGCTCTAACCCTCCTATCCCGGCTCTTAACACCCCTATCCCG GCTCTTAACACCCCTATCCCGGCTCTAACACCCCTATCCCGGCTCTAACC CTCCTATCCCGGCTCTAACCCTCCTATCCCGGCTCTAACCCTCCTATCCC GGCTCTAACCCTCCTATCCCGGCTCTAACACCCCTATCCCGGCTCTAACC CTCCTATCCCGGCTCTAACACCCCATATCCCGGCTCTGACCCTCCTATCC CGGCTCTTAACACCCCTATCCCGGCTCTTAACACCCCTATCCCGGCTCTA ACCCTCCTATCCCGGCTCTAACCCTCCTATCCCGGCTCTAACACCCCTAT CCCGGCTCTAACACCCCATATCCCGGCTCTAACACCCCTATCCCGGCTCT AACACCCCTATCCCGGCTCTAACACCCCCTATCCCGGCTCTAACCCTCCT ATCCCGGCTCTTAACACCCCTATCCCGGCTCTTAACACCCCTATCCCGGC TCTAACACCCCTATCCCGGCTCTAACCCTCCTATCCCGGCTCTAACC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0021 a0003c0006t0021	a0003c0006t0021g0088 a0003c0006t0021g0089 a0003c0006t0021g0088 a0003c0006t0021g0089	2	228	0.0088	796	c.213 others(815): Show c.2138-4173_2138-4172insGGTTAGAGCCGGGATAGGAGGGTTAG AGCCGGGATAGGGGTGTTAGAGCCGGGATAGGGGTGTTAAGAGCCGGGAT AGGGGTGTTAAGAGCCGGGATAGGAGGGTTAGAGCCGGGATAGGGGGTGT TAGAGCCGGGATAGGGGTGTTAGAGCCGGGATAGGGGTGTTAGAGCCGGG ATATGGGGTGTTAGAGCCGGGATAGGGGTGTTAGAGCCGGGATAGGAGGG TTAGAGCCGGGATAGGAGGGTTAGAGCCGGGATAGGGGTGTTAAGAGCCG GGATAGGGGTGTTAAGAGCCGGGATAGGAGGGTCAGAGCCGGGATATGGG GTGTTAGAGCCGGGATAGGAGGGTTAGAGCCGGGATAGGGGTGTTAGAGC CGGGATAGGAGGGTTAGAGCCGGGATAGGAGGGTTAGAGCCGGGATAGGA GGGTTAGAGCCGGGATAGGAGGGTTAGAGCCGGGATAGGGGTGTTAGAGC CGGGATAGGGGTGTTAAGAGCCGGGATAGGGGTGTTAAGAGCCGGGATAG GAGGGTTAGAGCCGGGATAGGGGGTGTTAGAGCCGGGATAGGGGTGTTAG AGCCGGGATAGGGGTGTTAAGAGCCCGGGATAGGAGGGTTAGAGCCGGGA TAGGGGTGTTAGAGCCGGGATAGGAGGGTTAGAGCCGGGATAGGAGGGTT AGAGCCGGGATAGGGGTGTTAGAGCCGGGATAGGGGTGTTAAGAGCCGGG ATAGGGGTGTTAAGAGCTGGGATAGGAGGGGTTAGAGCCGGGATAGGGGG TGTTAGAGCCGGGATAGGGG	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	15/21			chr15	TogoVar
AFF2_chrX_148495617_149005663	148581249	C C	CATATACG others(789): Show CATATACGTATACGTATACACACATATACGTATACGTATACACACATATA CGTATACGTATACACACATATACGTATACGTATACACACATATACGTATA CGTATACACACATATACGTATACGTATACACACATATACACGTATACGTA TACACACATATATACGTATACGTATACACACATATACACGTATACGTATA CGTATACACACATATACACGTATATACGTATACGTGTACACACATATACA CGTATATACGTATACGTGTACACACATATATACACGTATATACGTATACG TGTACACACACACGTATATACGTATACGTGTACACACACACGTATATACG TATACGTGTACACACACACGTATATACGTATACGTGTACACACACACGTA TATACGTATACGTGTACACACACACGTATATACGTATACGTGTACACACA CACGTATATACGTATACGTGTACACACACACGTATATACGTATACGTGTA CACACACACGTATATACGTATACGTGTACACACACACGTATATACGTATA CGTGTACACACACACGTATATACGTATACGTGTACACACACACGTATATA CGTATACGTGTACACACACATACACGTATACGTGTACACACACATACGTA TACGTGTACACACACATACGTATACGTGTACACACACATACGTATACGTG TACACACATATACACGTATACGTGTACACACATATACACGTATACGTGTA CACACATATACACGTATATACGTATACGTGTACACACATATACACGT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0040 a0001c0002t0040	a0001c0002t0040g0111 a0001c0002t0040g0111	1	169	0.0059	796	c.48- others(813): Show c.48-70736_48-70735insATACACACATATACGTATACGTATACAC ACATATACGTATACGTATACACACATATACGTATACGTATACACACATAT ACGTATACGTATACACACATATACGTATACGTATACACACATATACACGT ATACGTATACACACATATATACGTATACGTATACACACATATACACGTAT ACGTATACGTATACACACATATACACGTATATACGTATACGTGTACACAC ATATACACGTATATACGTATACGTGTACACACATATATACACGTATATAC GTATACGTGTACACACACACGTATATACGTATACGTGTACACACACACGT ATATACGTATACGTGTACACACACACGTATATACGTATACGTGTACACAC ACACGTATATACGTATACGTGTACACACACACGTATATACGTATACGTGT ACACACACACGTATATACGTATACGTGTACACACACACGTATATACGTAT ACGTGTACACACACACGTATATACGTATACGTGTACACACACACGTATAT ACGTATACGTGTACACACACACGTATATACGTATACGTGTACACACACAC GTATATACGTATACGTGTACACACACATACACGTATACGTGTACACACAC ATACGTATACGTGTACACACACATACGTATACGTGTACACACACATACGT ATACGTGTACACACATATACACGTATACGTGTACACACATATACACGTAT ACGTGTACACACATATACACGTATATACGTATACGTGTACACACATATAC ACGTATATACGTATACGT	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148581249	C C	CATATACG others(789): Show CATATACGTATACGTGTACACACATATACGTATACGTGTACACACATATA CGTATACGTGTACACACATATACGTATACGTGTACACACATATACGTATA CGTGTACACACATATACGTATACGTGTACACACATATACACGTATACGTA TACGTGTACACACATATACACGTATATACGTATACGTGTACACACATATA CACGTATATACGTATACGTGTACACACATATATACACGTATATACGTATA CGTGTACACACACACGTATATACGTATACGTGTACACACACACGTATATA CGTATACGTGTACACACACACGTATATACGTATACGTGTACACACACACG TATATACGTATACGTGTACACACACACGTATATACGTATACGTGTACACA CACACGTATATACGTATACGTGTACACACACACGTATATACGTATACGTG TACACACACACGTATATACGTATACGTGTACACACACACGTATATACGTA TACGTGTACACACACACGTATATACGTATACGTGTACACACACACGTATA TACGTATACGTGTACACACACACGTATATACGTATACGTGTACACACACA TACACGTATACGTGTACACACACATACACGTATATACGTATACGTGTACA CACACATACACGTATATACGTATACGTGTACACACACATACACGTATATA CGTATACGTGTACACACATATACCTATACGTGTACACACATATACACGTA TACGTGTACACACATATACACGTATACGTGTACACACATATACACGT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0151 a0001c0002t0018g0151	1	169	0.0059	796	c.48- others(813): Show c.48-70722_48-70721insGTATACGTGTACACACATATACGTATAC GTGTACACACATATACGTATACGTGTACACACATATACGTATACGTGTAC ACACATATACGTATACGTGTACACACATATACACGTATACGTATACGTGT ACACACATATACACGTATATACGTATACGTGTACACACATATACACGTAT ATACGTATACGTGTACACACATATATACACGTATATACGTATACGTGTAC ACACACACGTATATACGTATACGTGTACACACACACGTATATACGTATAC GTGTACACACACACGTATATACGTATACGTGTACACACACACGTATATAC GTATACGTGTACACACACACGTATATACGTATACGTGTACACACACACGT ATATACGTATACGTGTACACACACACGTATATACGTATACGTGTACACAC ACACGTATATACGTATACGTGTACACACACACGTATATACGTATACGTGT ACACACACACGTATATACGTATACGTGTACACACACACGTATATACGTAT ACGTGTACACACACACGTATATACGTATACGTGTACACACACATACACGT ATACGTGTACACACACATACACGTATATACGTATACGTGTACACACACAT ACACGTATATACGTATACGTGTACACACACATACACGTATATACGTATAC GTGTACACACATATACCTATACGTGTACACACATATACACGTATACGTGT ACACACATATACACGTATACGTGTACACACATATACACGTATATACGTAT ACGTGTACACACATATAC	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AMER2_chr13_25156679_25177288	25159099	T T	TATATATA others(789): Show TATATATATAATATATATTACATGTATATATTATATATTATATGTTTATA TATTATATGTATATATGTATATATTATATATTATATATTATATATTATAT ATTATATATATTATATACATATAATATATATTCTCATATATATTATATAT ACTCATATATATAATATATATTCTCATATATATATATTATATATTCTCAT ATATATAATATATATATTCTCATATATAATATATATTCTCATATATATAA TATATACTCATATATTATATATATTCTCATATATTATATATATACTCATA TATAATGTATATATTCTAATATATAATATATATTTTCTCATTTATATAAT ATATATTCTCATATATAATATATATTCTCATATATGACATATTATATATA TTCTCATATATATTATATATTCTCATATATAATATATATTCTCATATAAT ATATTATATATTCTCATATAATATATATGCTCATATAATATATTATATAT GCTCATATATAATATATTATATATGCTCATATATAATATATTATATATGC TCATATATAATATATTATATATGCTCATATATAATATATTATATATGCTC ATATATAATATATTATATATGCTCATATATAATATATTATATATGCTCAT ATAATATATTATATATGCTCATATATAATATATTATGTATGCTCATATAT AATATATTATGTATGCTCATATATAATATATTATGTATGCTCATATATAA TATATTATGTATGAGCATATATAATATATTATGTATGAGCATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	416	0.0024	796	c.10 others(809): Show c.10504_*10505insTATATATGCTCATACATAATATATTATATATG CTCATACATAATATATTATATATGAGCATACATAATATATTATATATGAG CATACATAATATATTATATATGAGCATACATAATATATTATATATGAGCA TATATAATATATTATATGAGCATATATAATATATTATATATGAGCATATA TAATATATTATATATGAGCATATATAATATATTATATATGAGCATATATA ATATATTATATATGAGCATATATAATATATTATATATGAGCATATATAAT ATATTATATATGAGCATATATAATATATTATATGAGCATATATATTATAT GAGAATATATAATATATTATATGAGAATATATATTATATATGAGAATATA TAATATATATGAGAATATATATAATATGTCATATATGAGAATATATATTA TATATGAGAATATATATTATATAAATGAGAAAATATATATTATATATTAG AATATATACATTATATATGAGTATATATATAATATATGAGAATATATATA ATATATGAGTATATATTATATATATGAGAATATATATTATATATGAGAAT ATATATATTATATATATGAGAATATATAATATATATATATGAGAATATAT ATTATATATATGAGTATATATAATATATATGAGAATATATATTATATGTA TATAATATATATAATATATAATATATAATATATAATATATAATATATACA TATATACATATAATATATAAACATATAATATATAATATATACATGTAATA TATATTATATATAT	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2579		chr13	TogoVar
AVEN_chr15_33861227_34044204	33894705	C C	CAGGCTGA others(789): Show CAGGCTGAGGCAGGAGAATTGCTTGAACTTGGGAGGCGGAGGTTGCAGTC AGCTGAGATCGCGACACTGCACTCCAGTCCGGGTGACAGAGTGAGACTCC GTCTCCAAAAAAAAAAAAAGAAAAAAAAAATCATCAAGTCTGTCAAATGC AGTTTTCCCCTATGGGTGGCTCTTCAAGATTCACACTTTAACATAACGCT AAGGTTTGGGTATATTTTATTCTTGACATATATTCCTAAAATTGGAATTA CTGGGTACAGGAATAAAATTTAGTTTGAAACTATTTATGTTACTCTATAG ATCTGCTGAAACATAGATCCAACGTGCAAATTCCATTCATAACATTCTCA TCCACTTTTACACAAATGTGTGTTAAATGCCTACTATGTGTCAGATTAGA AGCTAGTGATACAGAATGTTATCCAAAGTCCCTGCTCTCATGGAATTACT ACTACTTAAATGTCTACTAAAGGGAGAAGAAAATTTAAATGAATCACCTA GTTCCTGAAAGCCCTATCAATAACTTTTGTATTTACATACACAATTGTAT TAAAAGTGTTATTATTTATTAAGTATATTAAGAAGTACAAGCCCTTCTAC TTATTAAAATAATAGAATGTGGCCGGGCTTGGTGGCTCACACGTGTAATC CCAGCACTTTGGGAGCCTGAGGCGGGCGGATCACAAGGTCAGGAGATCAA GACCATCCTGGCTAACACGATGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGTGCAGTGGCGGGCACCTGTAGTCCCAGCTACTTGGG	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0262 a0002c0002t0001g0262	1	266	0.0038	796	c.446 others(815): Show c.446-18711_446-18710insCCCAAGTAGCTGGGACTACAGGTGCC CGCCACTGCACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTC ATCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTTGTGATCCGCCCGC CTCAGGCTCCCAAAGTGCTGGGATTACACGTGTGAGCCACCAAGCCCGGC CACATTCTATTATTTTAATAAGTAGAAGGGCTTGTACTTCTTAATATACT TAATAAATAATAACACTTTTAATACAATTGTGTATGTAAATACAAAAGTT ATTGATAGGGCTTTCAGGAACTAGGTGATTCATTTAAATTTTCTTCTCCC TTTAGTAGACATTTAAGTAGTAGTAATTCCATGAGAGCAGGGACTTTGGA TAACATTCTGTATCACTAGCTTCTAATCTGACACATAGTAGGCATTTAAC ACACATTTGTGTAAAAGTGGATGAGAATGTTATGAATGGAATTTGCACGT TGGATCTATGTTTCAGCAGATCTATAGAGTAACATAAATAGTTTCAAACT AAATTTTATTCCTGTACCCAGTAATTCCAATTTTAGGAATATATGTCAAG AATAAAATATACCCAAACCTTAGCGTTATGTTAAAGTGTGAATCTTGAAG AGCCACCCATAGGGGAAAACTGCATTTGACAGACTTGATGATTTTTTTTT TCTTTTTTTTTTTTTGGAGACGGAGTCTCACTCTGTCACCCGGACTGGAG TGCAGTGTCGCGATCTCAGCTGACTGCAACCTCCGCCTCCCAAGTTCAAG CAATTCTCCTGCCTCAGCCT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
C2CD4C_chr19_400445_414147	404960	T T	TGAGGGGG others(789): Show TGAGGGGGGGACGGGGTCCTGCCCTGAGGGGTGGAGGGGGGACGGGGTCC TGCCCTGAGGGGTGTGGGGGGGAACGGGGTCCTGCCCTCAGGGGTGTGGG GGGGACGGGGTCCTGCCTTGAGGGGTGTGGGGGAGGGACGGGGTCCTGCC CTGAGGGGTGTGGGGGGGAACGGGGTCCTGCCCTGAGGGGTGTGGGGGGG ACGGGGTCCTGCCTTGAGGGGTGTGGGGGGGACGGGGTCCTGCCCTGAGG GGTGTGAGGGGGGAACGGGGTCCTGCCCTGAGGGGTGTGGGGGGAACGGG GTCCTGCCTTGAGGGGTGTGGGGGGGAACGGGGTCCTGCCTTGAGGGGTG TGGGGGGGAACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGGAACGGGGTC CTGCCCTGAGGGGTGTGGGGGGGACGGGGTCCTGCCTTGAGGGGTGTGGG GGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGAACGGGGTCCTGCCCT GAGGGGTGTGGGGGGGACGGGGTCCTGCCTTGAGGGGTGTGGGGGGGACG GGGTCCTGCCCTGAGGGGTCTGAGGGGGTACGGGGTCCTGCCCTGAGGGG TGTGGAGGGGGGATGGGGTCCTGCCCTGAGGGGTGTGGGGGGGAACGGGG TCCTGCCCTGAGGGGTGTGGAGGGGGGATGGGGTCCTGCCCTGAGGGGTG TGGGGGGGAACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGGTCCT GCCCTGAGGGGTGTGGGGGGGAACGGGGTCCTGCCCTGAGGGGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0081 a0001c0001t0035g0081	1	322	0.0031	796	c.21 others(807): Show c.2135_*2136insCACACCCCTCAGGGCAGGACCCCGTTCCCCCCCA CACCCCTCAGGGCAGGACCCCGTCCCCCCCACACCCCTCAGGGCAGGACC CCGTTCCCCCCCACACCCCTCAGGGCAGGACCCCATCCCCCCTCCACACC CCTCAGGGCAGGACCCCGTTCCCCCCCACACCCCTCAGGGCAGGACCCCA TCCCCCCTCCACACCCCTCAGGGCAGGACCCCGTACCCCCTCAGACCCCT CAGGGCAGGACCCCGTCCCCCCCACACCCCTCAAGGCAGGACCCCGTCCC CCCCACACCCCTCAGGGCAGGACCCCGTTCCCCCCACACCCCTCAGGGCA GGACCCCGTCCCCCCCACACCCCTCAAGGCAGGACCCCGTCCCCCCCACA CCCCTCAGGGCAGGACCCCGTTCCCCCCCCACACCCCTCAGGGCAGGACC CCGTTCCCCCCCACACCCCTCAAGGCAGGACCCCGTTCCCCCCCACACCC CTCAAGGCAGGACCCCGTTCCCCCCACACCCCTCAGGGCAGGACCCCGTT CCCCCCTCACACCCCTCAGGGCAGGACCCCGTCCCCCCCACACCCCTCAA GGCAGGACCCCGTCCCCCCCACACCCCTCAGGGCAGGACCCCGTTCCCCC CCACACCCCTCAGGGCAGGACCCCGTCCCTCCCCCACACCCCTCAAGGCA GGACCCCGTCCCCCCCACACCCCTGAGGGCAGGACCCCGTTCCCCCCCAC ACCCCTCAGGGCAGGACCCCGTCCCCCCTCCACCCCTCAGGGCAGGACCC CGTCCCCCCCTC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		484		chr19	TogoVar
CFAP20DC_chr3_58737008_59055025	58786706	T T	TAAGATAT others(789): Show TAAGATATGCCAAAGAGCGACCCCTCTCCAAGAGGGATCACTCACAGGCA CTGGTTATTGGCTGGGAGCTCAGCCTGGATTGAGAGATAGGAACTTCATT CCTCTCCATGTGGGTCTCTTCATGTAGCCCAGGCTTCCTCACTGCACGGT GGCTGGCTGCTGAGGGAAAGTGACTCAAGGACCGTATTGCCTCTTAAGAC CCAGGCTTGGAAGTTATACAGTGTTGTCTATCACGTGTGTCAGTCTAATG ACACACAAATTAAGGGGAAGGGACATAACCCCCACCTCTTGAGGGTGAGT GGCAAAGTTTTGGAAGAGCATGTGGGATGGGATATATTGTTGTAGTTATT TTTGAAAAATACAATTTGCTACGTCAGGTATGACATTTTATTACATTCTT TAAAATGTGACAATTGTCCTTCCCTTTTTAAGTTACAAACAAAAAGTAAA ACTAAAGAAGTATCGTGATTTTCTTTAGGCAAAAATCAGTCAACTAGTTT GAAAGTCATTAGTGAAAATATGGAGAAATATTAATTCCAGATAATCAGGT TAAAATGGAGACCTAGCATTATTTGGCCAATTAATTGACAGAATGTTACA AGATGCCAAAGACTGGTAGCATCAAATACTGTATTCCAGACTATAATAGG CAGTAAACTGGAAACATAATCTGTAATTCTGTAAATTGAATTATTGTTGA ATGAATTAATTTTTCCGTATCTGTAATATTTTTACCTTATGTAATAAAAA CCATAAATCTGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0054 a0001c0002t0002g0054	1	204	0.0049	796	c.223 others(817): Show c.2237+19688_2237+19689insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTCCAGATTTATGGTTTTTATTACATAAGGTAAAAATATTA CAGATACGGAAAAATTAATTCATTCAACAATAATTCAATTTACAGAATTA CAGATTATGTTTCCAGTTTACTGCCTATTATAGTCTGGAATACAGTATTT GATGCTACCAGTCTTTGGCATCTTGTAACATTCTGTCAATTAATTGGCCA AATAATGCTAGGTCTCCATTTTAACCTGATTATCTGGAATTAATATTTCT CCATATTTTCACTAATGACTTTCAAACTAGTTGACTGATTTTTGCCTAAA GAAAATCACGATACTTCTTTAGTTTTACTTTTTGTTTGTAACTTAAAAAG GGAAGGACAATTGTCACATTTTAAAGAATGTAATAAAATGTCATACCTGA CGTAGCAAATTGTATTTTTCAAAAATAACTACAACAATATATCCCATCCC ACATGCTCTTCCAAAACTTTGCCACTCACCCTCAAGAGGTGGGGGTTATG TCCCTTCCCCTTAATTTGTGTGTCATTAGACTGACACACGTGATAGACAA CACTGTATAACTTCCAAGCCTGGGTCTTAAGAGGCAATACGGTCCTTGAG TCACTTTCCCTCAGCAGCCAGCCACCGTGCAGTGAGGAAGCCTGGGCTAC ATGAAGAGACCCACATGGAGAGGAATGAAGTTCCTATCTCTCAATCCAGG CTGAGCTCCCAGCCAATAACCAGTGCCTGTGAGTGATCCCTCTTGGAGAG GGGTCGCTCTTTGGCATATCTT	CFAP20DC	ENSG00000163689.21	transcript	ENST00000482387.7	protein_coding	15/16			chr3	TogoVar
CFAP20DC_chr3_58737008_59055025	58786706	T T	TAAGATAT others(789): Show TAAGATATGCCAAAGAGCGACCCCTCTCCAAGAGGGATCACTCACAGGCA CTGGTTATTGGCTGGGAGCTCAGCCTGGATTGAGAGATAGGAACTTCATT CCTCTCCATGTGGGTCTCTTCATGTAGCCCAGGCTTCCTCACTGCACGGT GGCTGGCTGCTGAGGGAAAGTGACTCAAGGACCGTATTGCCTCTTAAGAC CCAGGCTTGGAAGTTATACAGTGTTGTCTATCACGTGTGTCAGTCTAATG ACACACAAATTAAGGGGAAGGGACATAACCCCCACCTCTTGAGGGTGAGT GGCAAAGTTTTGGAAGAGCATGTGGGATGGGATATATTGTTGTAGTTATT TTTGAAAAATACAATTTGCTACGTCAGGTATGACATTTTATTACATTCTT TAAAATGTGACAATTGTCCTTCCCTTTTTAAGTTACAAACAAAAAGTAAA ACTAAAGAAGTATCGTGATTTTCTTTAGGCAAAAATCAGTCAACTAGTTT GAAAGTCATTAGTGAAAATATGGAGAAATATTAATTCCAGATAATCAGGT TAAAATGGAGACCTAGCATTATTTGGCCAATTAATTGACAGAATGTTACA AGATGCCAAAGACTGGTAGCATCAAATACTGTATTCCAGACTATAATAGG CAGTAAACTGGAAACATAATCTGTAATTCTGTAAATTGAATTATTGTTGA ATGAATTAATTTTTCCGTATCTGTAATATTTTTACCTTATGTAATAAAAA CCATAAATCTGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0032 a0001c0002t0002g0032	1	204	0.0049	796	c.223 others(817): Show c.2237+19688_2237+19689insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTCTTCCAGATTTATGGTTTTTATTACATAAGGTAAAAATATTA CAGATACGGAAAAATTAATTCATTCAACAATAATTCAATTTACAGAATTA CAGATTATGTTTCCAGTTTACTGCCTATTATAGTCTGGAATACAGTATTT GATGCTACCAGTCTTTGGCATCTTGTAACATTCTGTCAATTAATTGGCCA AATAATGCTAGGTCTCCATTTTAACCTGATTATCTGGAATTAATATTTCT CCATATTTTCACTAATGACTTTCAAACTAGTTGACTGATTTTTGCCTAAA GAAAATCACGATACTTCTTTAGTTTTACTTTTTGTTTGTAACTTAAAAAG GGAAGGACAATTGTCACATTTTAAAGAATGTAATAAAATGTCATACCTGA CGTAGCAAATTGTATTTTTCAAAAATAACTACAACAATATATCCCATCCC ACATGCTCTTCCAAAACTTTGCCACTCACCCTCAAGAGGTGGGGGTTATG TCCCTTCCCCTTAATTTGTGTGTCATTAGACTGACACACGTGATAGACAA CACTGTATAACTTCCAAGCCTGGGTCTTAAGAGGCAATACGGTCCTTGAG TCACTTTCCCTCAGCAGCCAGCCACCGTGCAGTGAGGAAGCCTGGGCTAC ATGAAGAGACCCACATGGAGAGGAATGAAGTTCCTATCTCTCAATCCAGG CTGAGCTCCCAGCCAATAACCAGTGCCTGTGAGTGATCCCTCTTGGAGAG GGGTCGCTCTTTGGCATATCTT	CFAP20DC	ENSG00000163689.21	transcript	ENST00000482387.7	protein_coding	15/16			chr3	TogoVar
CHRNA3_chr15_78590309_78625996	78599765	T T	TAGCACTT others(789): Show TAGCACTTTGGGAGGCCAAGGCAGGAGAACTGCTTGAGTCCAGGAGTTCG AGACCAGCCTGGGCAACACAGTGAGACCCCCCCCCACCCCACCCACCGAC CTCTTCAAATTAAAAAAAAAATTAGCTGGGTGTGGTGGCATACACCTGTA GACCCAGCTATTTGGGAGGCTGAGGTTGGAGGATCGCTTGAGCCCAGGAG TTAGAGGCTACAGTGAGCTACGATGGCTCCACTGCACTCCAATGTGGATG ACAGAGCAAGACTGTCCCAAAAAAAAAAAAAAAAAAAAATTAAAAAAAGG CTAAAAATTTTATTGCAGTCTCACTTTTATTTTTTTATTTTTTTTGGTAG AAATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCA AGCGATCTACCCATCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAG CCACTTTACCCATCCCCTCACTTTTATTATTTATTATCTTTTAAGAGATG AGGTCTCACTATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAGCAA TCCTCCTGCTTTGGCCTTCCAATCTGCTGGGATTACAGGTGTGAGCCACT GTGCCTGGCCATAGCCTCACTTAAAGAGAGAGTAGCTGGATACAAAACTC TTCAGCTAAGACTGAAGTTCCACACATCAGGGACCAAACAGCCCCGGCCT CAGCTACGGGAAAAGTTTATATACTATGTGATTCCATTTATATGAAACTC AAGAATAGTAAAACTGGCCGGGCGCAGTGGCTCACACCTGTAATCCC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01358.hp2 HG00597.hp2 HG01358.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0238 a0001c0004t0005g0240 a0001c0004t0005g0238 a0001c0004t0005g0240	2	410	0.0049	796	c.138 others(815): Show c.1389+1487_1389+1488insGGGATTACAGGTGTGAGCCACTGCGC CCGGCCAGTTTTACTATTCTTGAGTTTCATATAAATGGAATCACATAGTA TATAAACTTTTCCCGTAGCTGAGGCCGGGGCTGTTTGGTCCCTGATGTGT GGAACTTCAGTCTTAGCTGAAGAGTTTTGTATCCAGCTACTCTCTCTTTA AGTGAGGCTATGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCAGAT TGGAAGGCCAAAGCAGGAGGATTGCTTGAGGCCAGGAGTTAGAGACCAGC CTGGGCAACATAGTGAGACCTCATCTCTTAAAAGATAATAAATAATAAAA GTGAGGGGATGGGTAAAGTGGCTCATGCCTATAATCCCAGCACTTTGGGA GGCTGAGATGGGTAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGG CAACATGGCAAAACCCTATTTCTACCAAAAAAAATAAAAAAATAAAAGTG AGACTGCAATAAAATTTTTAGCCTTTTTTTAATTTTTTTTTTTTTTTTTT TTTGGGACAGTCTTGCTCTGTCATCCACATTGGAGTGCAGTGGAGCCATC GTAGCTCACTGTAGCCTCTAACTCCTGGGCTCAAGCGATCCTCCAACCTC AGCCTCCCAAATAGCTGGGTCTACAGGTGTATGCCACCACACCCAGCTAA TTTTTTTTTTAATTTGAAGAGGTCGGTGGGTGGGGTGGGGGGGGGTCTCA CTGTGTTGCCCAGGCTGGTCTCGAACTCCTGGACTCAAGCAGTTCTCCTG CCTTGGCCTCCCAAAGTGCT	CHRNA3	ENSG00000080644.16	transcript	ENST00000326828.6	protein_coding	5/5			chr15	TogoVar

Search by Variant

Search

Search Results (Total: 8931 hits)