Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PDXK_chr21_43714129_43767299	43741442	G G	GGGGGGCT others(404): Show GGGGGGCTGGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGG GGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGC TCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCG GGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGG GGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCT CGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGG GGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGG CTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGG CGGGGGGCTGGC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0069 a0001c0002t0069	a0001c0002t0069g0172 a0001c0002t0069g0172	1	358	0.0028	411	c.143 others(426): Show c.143-220_143-219insCTGGCGGGGGGGCTCGCGGGGGGGCTCGCG GGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGG GGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTG GCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGG GGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGG GCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCG CGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGG GGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGC TCGCGGGGGGCTGGCGGGGGGCTGGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PERM1_chr1_970198_987093	976938	G G	GCAACCCC others(404): Show GCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCC TCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAA CCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCG CTCCCCCCGCAACCCCGGGAACCGCCTCCCGCTCCCCCCGCAACCCCGGG AACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCC CCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACC GCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCGCTCCCCCCACC AACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTC CCACTCCCCCCA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0013 a0013	a0013c0040 a0013c0040	a0013c0040t0005 a0013c0040t0005	a0013c0040t0005g0234 a0013c0040t0005g0234	1	408	0.0025	411	c.215 others(428): Show c.2150-315_2150-314insTGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGCGGGA GGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGC GGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGCGGGGGGAGTGGGAGGCGG TTCCCGGGGTTGGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGG GAGCGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGCGGGAGGCGGTTCCCG GGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGG GAGGCGGTTCCCGGGGTTGGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTT GGTGGGGGGAGCGGGAGGCGGTTCCCGGGGTTG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PLEKHN1_chr1_961482_980865	976938	G G	GCAACCCC others(404): Show GCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCC TCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAA CCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCG CTCCCCCCGCAACCCCGGGAACCGCCTCCCGCTCCCCCCGCAACCCCGGG AACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCC CCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACC GCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCGCTCCCCCCACC AACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTC CCACTCCCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0007 a0003c0003t0005g0007	1	422	0.0024	411	c.23 others(422): Show c.2363_*2364insCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCA ACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCC CACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCC GGGAACCGCCTCCCGCTCCCCCCGCAACCCCGGGAACCGCCTCCCGCTCC CCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAAC CGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCG CCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCT CCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAAC CCCGGGAACCGCCTCCCACTCCCCCCA	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1074		chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2124353	C C	CTGTAGTT others(404): Show CTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTC ATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAG GGTCGTGGTGGTTAGGTTCATGGTGGTAGTTAGGATCATGGCTGTAGTTA GGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTA GTTAGGGTCACAGCGATAGTTAGCATCATGGTGGTAGTTAGGGTCATGGT GGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCA TGGCTGTAGTTAGGGTCATGGTGGTAGTTGGGGTCACGGCTATAGTTGGG GTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGCGTCATGGTGGTAGT TAGGGTCATGGT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0023	1	286	0.0035	411	c.335 others(430): Show c.335-10909_335-10908insTGTAGTTAGGGTCATGGTGGTAGTTA GGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTA GTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGTTCATGGTGGT AGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGG CTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACAGCGATAGTTAGCATC ATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAG GGTCATGGTGGTAGTTAGGGTCATGGCTGTAGTTAGGGTCATGGTGGTAG TTGGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACGGCT GTAGTTAGCGTCATGGTGGTAGTTAGGGTCATGGT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17			chr1	TogoVar
PRKG1_chr10_51069487_52303350	51449643	A A	AACAGCAT others(404): Show AACAGCATATCATATATATATATATATATATATATATATATATATATATA TATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGATG GAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTC ACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCTCAGCCTCCC GAGTAGCTTGTATTATAGGCACCCGCCACCATGCCCAGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAAC TCCTGGCCTAGTGATCCGCCCACCTCGACCTCCCAAAGTGTTGGGATTAC AAGCGTGAGCCACCGTGCCCAGCCAGCATATCATATTTATATTCTGAATT TTCACATATTAG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03579.hp2 HG02615.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0010 a0001c0008t0001 a0001c0001t0010 a0001c0008t0001	a0001c0001t0010g0042 a0001c0008t0001g0020 a0001c0001t0010g0042 a0001c0008t0001g0020	2	64	0.0313	411	c.479 others(430): Show c.479-18077_479-18076insGCATATCATATATATATATATATATA TATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTAAAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTG CAATGGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTG ATTCTCCTGCTCAGCCTCCCGAGTAGCTTGTATTATAGGCACCCGCCACC ATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGT TGGCCAGGCTGGTCTCAAACTCCTGGCCTAGTGATCCGCCCACCTCGACC TCCCAAAGTGTTGGGATTACAAGCGTGAGCCACCGTGCCCAGCCAGCATA TCATATTTATATTCTGAATTTTCACATATTAGACA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(404): Show AGGGGAAGAGGGAGGAGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGAGGG GAGGAGGGAGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGAGGGGG GGAGGGGGAGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGGAGGA GGGGAGGGGGGGAGGAGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAG AGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAG GGGAGGGGGAGGAGGGGAGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGGG AGGAGGGGAGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAGGGGAGG GGGAGGGGGGGAGGAGGGAGGGCGGGGAGGAGGGGGACGGGGGAGGAGGG GAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0006 a0001c0001t0005g0006	1	318	0.0031	411	c.36 others(422): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGAGGGGAGGAGGGAGAGGGGAAGAGGGAGGAGGGGAGGGG GGAGGAGGGAGGGGGGGAGGGGGAGGGGAGGAGGGAGGAGGGGAGGGGGG AGGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGAGGAGGGAG GAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGA GGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGAGGAGGGAAGGGG GAGGGGGAGGAGGGGAGGAGGGGAGGGGAGGAGGGGAAGGGGAGGGGGAG GAGGGGAAGGGGAGGGGGAGGGGGGGAGGAGGGAGGGCGGGGAGGAGGGG GACGGGGGAGGAGGGGAGGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(404): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGGAGGAG GGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGGGAG AGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAG GGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGG GAGGAGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAGGGGAG GGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGGAGGG GAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp2 HG04199.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	318	0.0063	411	c.36 others(422): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGAGGAGGGGAGGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGA GGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAG GAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGA GGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGG GGAGGGGGAGGAGGGGAGGAGGGAGGGGGAGGAGGGGAAGGGGAGGGGGA GGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGG GACGGGGGAGGAGGGGAGGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(404): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGGAGGA GGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGGGA GAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGA GGGGAGGGGGAGGAGGGGAGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGG GAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGAGGAGGGGAAGGGGAG GGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGGAGGG GAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	318	0.0031	411	c.36 others(422): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGAGGAGGGGAGGGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGGG AGGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGA GGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGG AGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGAGGAGGGAAGGG GGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGA GGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGG GACGGGGGAGGAGGGGAGGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
RPA3_chr7_7631518_7723607	7679096	A A	AATATATA others(404): Show AATATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0289 a0001c0001t0005g0289	1	308	0.0033	411	c.-75 others(430): Show c.-758+6733_-758+6734insATCTATAAATTAAATATATAAATATA TATTTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAA TATATAAATATATATTTATCTATAAATTAAATATATAAATATATATTTAT CTATAAATTAAATATATAAATATGTATTTATAAACTAAATATATAAATAT GTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATATGTAA ATATGTATTTATAAACTAAATAAATATATATTTATAAACTAAATATGTAA ATATATATTTATAAACTAAATAAATATATATTTATAAACTAAATATGTAA ATATATATTTATAAACTAAATAAATATATATTTATAAACTAAATATGTAA ATATATATTTATAAACTAAATATGTAAATATATAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPH3AL_chr17_207389_357807	242609	C C	CCTTCCTC others(404): Show CCTTCCTCTATTGATTACCCTTCCTCTATTGACTACCTTCCTCTATTGAC TACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTGA CTACCTTCCTCTATTGACTACCTTCCTCTATTGATTACCCTTCCTCTATT GATTACCTTCCTCTATTGATTACCCTTCCTCTATTGATTACCTTCCTCTA TTGATTACCCTTCCTCTATTGACTACCTTCCTCTATTGATTACCTTCCTC TATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCT CTATTGACTACCTTCCTCTATTGATTACCTTCCTCTATTGACTACCTTCC TCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTC CTCTATTGACTA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	133	0.0075	411	c.613 others(428): Show c.613+4501_613+4502insTAGTCAATAGAGGAAGGTAGTCAATAGA GGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAG AGGAAGGTAATCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATA GAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAATCAAT AGAGGAAGGTAGTCAATAGAGGAAGGGTAATCAATAGAGGAAGGTAATCA ATAGAGGAAGGGTAATCAATAGAGGAAGGTAATCAATAGAGGAAGGGTAA TCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTA GTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGT AGTCAATAGAGGAAGGGTAATCAATAGAGGAAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RTN1_chr14_59590983_59875776	59750591	T T	TATATCTA others(404): Show TATATCTATAATATATATATTATATCTATAATATATAATATATCTATAAT ATATATATTATATCTATAATATATAATATACTATAATATATATATTATAT CTATAATATATAATATATCTATAATATATATATTATATCTATAATATATA ATATATCTATAATATATATATTATATCTATAATATATAATATATCTATAA TATATAATATATCTATAATATATATATTATATATATAATATATAATATAT TATATATATAATATATAATATATTATATATATAATATATAATATATTATA TCTATAATATATTATATGTAATATATATATGTTATATCTATAATATATAT TATATCTATAATATATAATATATTATATCTATAATATATAATATATTATA TCTATAAATATA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	172	0.0058	411	c.242 others(428): Show c.242-4111_242-4110insTATATTTATAGATATAATATATTATATA TTATAGATATAATATATTATATATTATAGATATAATATATATTATAGATA TAACATATATATATTACATATAATATATTATAGATATAATATATTATATA TTATATATATAATATATTATATATTATATATATAATATATTATATATTAT ATATATAATATATATATTATAGATATATTATATATTATAGATATATTATA TATTATAGATATAATATATATATTATAGATATATTATATATTATAGATAT AATATATATATTATAGATATATTATATATTATAGATATAATATATATATT ATAGTATATTATATATTATAGATATAATATATATATTATAGATATATTAT ATATTATAGATATAATATATATATTATAGATAT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
SH3BP4_chr2_234947017_235060714	235010815	T T	TAGAACCC others(404): Show TAGAACCCTTCCTCCCTCTCCTAGGAGAGCCCTTCCTCCCTCTTCTAGGA GAACCCTTTCTCTCTCTCCTAGAACCCTTCTTCCCTCTTCTAGGAGAACC CTTCCTGTCTCTCCTAGAACCCTTCCTCCCTCTCCTGAAACCCTTCCTCC CTCTTCTAGGAGAACCCTTCCTCCCTCTCCTAGGAGAACCCTTCCTCCCT CTTCTAGAACCCTTCCTTACTCTCCTAGGAGAACCCTTCCTCCCTCTCCT AGGAGAACCCTTCCTCCCTCTCCTAGAACCCTTCTTCCCTCTCCTAGGAG AACCTTTCCTCCCTCTCCTAGAACCCTTCCTCACTCTCCTAGGAGAACCC TTCCTCCCTCTCCTAGAACCCTTCCTCACTCTCCTAGGAGAACCCTTCCT CCCTCTCCTAGG	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02615.hp1 HG02647.hp2 others(2): Show HG01358.hp2 HG02615.hp1 HG02647.hp2 HG02818.hp2 HG03486.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0001c0004 a0004c0005 a0001c0002 a0001c0004 a0004c0005	a0001c0002t0001 a0001c0004t0001 a0004c0005t0002 a0001c0002t0001 a0001c0004t0001 a0004c0005t0002	a0001c0002t0001g0041 a0001c0004t0001g0282 a0004c0005t0002g0010 others(2): Show a0001c0002t0001g0041 a0001c0004t0001g0282 a0004c0005t0002g0010 a0004c0005t0002g0281 a0004c0005t0002g0283	5	348	0.0144	411	c.-13 others(432): Show c.-133+15466_-133+15467insGCCCTTCCTCCCTCTTCTAGGAGA ACCCTTTCTCTCTCTCCTAGAACCCTTCTTCCCTCTTCTAGGAGAACCCT TCCTGTCTCTCCTAGAACCCTTCCTCCCTCTCCTGAAACCCTTCCTCCCT CTTCTAGGAGAACCCTTCCTCCCTCTCCTAGGAGAACCCTTCCTCCCTCT TCTAGAACCCTTCCTTACTCTCCTAGGAGAACCCTTCCTCCCTCTCCTAG GAGAACCCTTCCTCCCTCTCCTAGAACCCTTCTTCCCTCTCCTAGGAGAA CCTTTCCTCCCTCTCCTAGAACCCTTCCTCACTCTCCTAGGAGAACCCTT CCTCCCTCTCCTAGAACCCTTCCTCACTCTCCTAGGAGAACCCTTCCTCC CTCTCCTAGGAGAACCCTTCCTCCCTCTCCTAGGAGA	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
SKI_chr1_2223319_2315213	2280720	C C	CGATCTTC others(404): Show CGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTT CAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAG CGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGC CCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAG GACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGC GGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGAC ACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAG AAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACA GGCGGTGGCGGA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0054 a0001c0001t0030g0054	1	330	0.0030	411	c.970 others(430): Show c.970-22243_970-22242insGACGCCCGAGAAGACAGGCGGCGGCG GCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCT TCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGA GCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATG CCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGA AGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGA GAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGA CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCG AGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2280720	C C	CGATCTTC others(404): Show CGATCTTCAGAGAGAGGACGCCCGAGAAGACATGCGGCGGCGGCGATCTT CAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAG CGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGATGC CCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAG GACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAG AGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGAC GCCCGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAG AAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACA GGCGGTGGCGGA	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0149 a0001c0001t0018g0149	1	330	0.0030	411	c.970 others(430): Show c.970-22243_970-22242insGACGCCCGAGAAGACATGCGGCGGCG GCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCT TCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGA GAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACG CCTGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGAT CTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGA GAGAGGACGCCCGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGGA CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCG AGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2280743	C C	CGAGAAGA others(404): Show CGAGAAGACATGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGG ACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCG GCGGCGGCGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGG AGATCTTCAGAGAGAGGACGCCTGAGAGGACAGGCGGTGGCGGAGATCTT CATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGG CGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGTGGTGGC GGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATC TTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGA GAGAAGACACGT	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	330	0.0030	411	c.970 others(430): Show c.970-22226_970-22225insTGCGGCGGCGGCGATCTTCAGAGAGC GGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCC CGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGATGCCCGAGAGG ACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAGGACAGGCG GTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACA CGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGA AGACAGGTGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGG CGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGG CGGAGATCTTCAGAGAGAAGACACGTGAGAAGACA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281044	C C	CGAGAGGA others(404): Show CGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAG ACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCG GTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCG GAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGCGGCGGCGATCT TCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGA GCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGATG CCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGA GGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGA GAGAAGACACGT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0213 a0001c0001t0003g0213	1	330	0.0030	411	c.970 others(430): Show c.970-21930_970-21929insGGACAGGCGGTGGCGGAGATCTTCAG AGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGG ACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCC GAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGA CAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGG CGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGC GATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTC AGAGAGAGGACGCCTGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGA GGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC6A18_chr5_1220381_1251189	1238642	A A	ACTCAGGA others(404): Show ACTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAG GTCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAG TGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGGGCCTGGAGG ACTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAG GTCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAG TGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGAGGA CTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGG TCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAG TGAGCCTGGGGC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02698.hp2 HG04204.hp2 others(2): Show HG01361.hp1 HG02698.hp2 HG04204.hp2 HG04228.hp2 NA21309.hp2	a0001 a0008 a0001 a0008	a0001c0002 a0001c0009 a0008c0022 a0001c0002 a0001c0009 a0008c0022	a0001c0002t0002 a0001c0009t0002 a0008c0022t0004 a0001c0002t0002 a0001c0009t0002 a0008c0022t0004	a0001c0002t0002g0095 a0001c0009t0002g0047 a0001c0009t0002g0160 others(2): Show a0001c0002t0002g0095 a0001c0009t0002g0047 a0001c0009t0002g0160 a0001c0009t0002g0161 a0008c0022t0004g0261	5	456	0.0110	411	c.732 others(426): Show c.732+593_732+594insCATCAGGTTTGGAGTGAGCCTGGGGCCTCA GGAAAGAGGTCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTCAG GTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGGG CCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGGCCTCA GGAAAGAGGTCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTCAG GTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGC CTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGGCCTCAG GAAAGAGGTCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAG GTTTGGAGTGAGCCTGGGGCCTCAGGAAAGA	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SMIM36_chr17_55444856_55516452	55500977	A A	ACATTATA others(404): Show ACATTATATTTTATGATATATAATATACATTATATTTTATGATATATAAT ATACATTATATTTTATGATATATAATATACATTATATTTTATGATATATA ATATACATTATATTTTATGATATATAATATACATTATATTTTATGATATA TAATATACATTATATTTTATGATATATAATATACATTATATTTTATGATA TATAATATACATTATATTTTATGATATATAATATACATTATATTTTATGA TATATAATATACATTATATTTTATGATATATAATATACATTATATTTTAT GATATATAATATACATTATATTTTATGATATATAATATACATTATATTTT ATGATATATAATATACATTATATTTTATGATATATAATATACATTATATT TTATGATATATT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02486.hp1 HG02615.hp2 HG02145.hp1 HG02486.hp1 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0240 a0001c0001t0010g0241 a0001c0001t0010g0242 a0001c0001t0010g0240 a0001c0001t0010g0241 a0001c0001t0010g0242	3	340	0.0088	411	c.17 others(430): Show c.174+9901_*174+9902insAATATATCATAAAATATAATGTATAT TATATATCATAAAATATAATGTATATTATATATCATAAAATATAATGTAT ATTATATATCATAAAATATAATGTATATTATATATCATAAAATATAATGT ATATTATATATCATAAAATATAATGTATATTATATATCATAAAATATAAT GTATATTATATATCATAAAATATAATGTATATTATATATCATAAAATATA ATGTATATTATATATCATAAAATATAATGTATATTATATATCATAAAATA TAATGTATATTATATATCATAAAATATAATGTATATTATATATCATAAAA TATAATGTATATTATATATCATAAAATATAATGTATATTATATATCATAA AATATAATGTATATTATATATCATAAAATATAATG	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(404): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGTGGGAGGG GGAGGGGGAGGGGGAGGGGGAGGTGGGAGGGGGAGGGGGAAGGGGGAGGG GGAAGCGGGAACGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGGGAGGGG GAGGGGGGAGGGGGAGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGG GGGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAAGGGGGAG GGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGG GAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGGAGGG GGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGAG GGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0062 a0001c0001t0019g0062	1	251	0.0040	411	c.34 others(420): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCCCT CCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCAT CTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCC CCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCT TCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCGTTCCCG CTTCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTC CCACCTCCCCCTCCCCCTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCTT CCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SUCLG2_chr3_67369719_67659612	67444510	T T	TGGGGGGG others(404): Show TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGGGTGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGG TGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC ACCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGGTCAGCCCGCC CGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGG	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	1	280	0.0036	411	c.106 others(432): Show c.1063-43660_1063-43659insCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGCGGGCTGACC CCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCC	SUCLG2	ENSG00000172340.15	transcript	ENST00000307227.10	protein_coding	9/10			chr3	TogoVar
SUCLG2_chr3_67369719_67659612	67444519	C C	CGGCCCCC others(404): Show CGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGG TGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGC CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAG CCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCGCCCGCCCGGCCAG CCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGG GAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGGTCA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0249 a0001c0001t0010g0249	1	280	0.0036	411	c.106 others(432): Show c.1063-43669_1063-43668insTGACCCCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGG GCGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGTGG GGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCC	SUCLG2	ENSG00000172340.15	transcript	ENST00000307227.10	protein_coding	9/10			chr3	TogoVar
SUCLG2_chr3_67369719_67659612	67444520	A A	GGCCCCCC others(404): Show GGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGG TGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGC CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAG CCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCGCCCGCCCGGCCAG CCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGG GAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGGGTCA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02738.hp1 HG02071.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0018 a0001c0001 a0001c0018	a0001c0001t0003 a0001c0018t0002 a0001c0001t0003 a0001c0018t0002	a0001c0001t0003g0038 a0001c0018t0002g0061 a0001c0001t0003g0038 a0001c0018t0002g0061	2	280	0.0071	411	c.106 others(432): Show c.1063-43669_1063-43668insGACCCCCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGG CGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGTGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCC	SUCLG2	ENSG00000172340.15	transcript	ENST00000307227.10	protein_coding	9/10			chr3	TogoVar
SUFU_chr10_102498972_102638535	102637656	G G	GATTATAA others(404): Show GATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATT ATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAA AATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATA TAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAAT TATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATA TATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATG ATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTA TAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAA ATATAATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02280.hp2 HG02976.hp2 others(3): Show HG01891.hp2 HG02280.hp2 HG02976.hp2 HG03516.hp2 NA18906.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0213 a0001c0001t0005g0020 a0001c0001t0005g0021 others(3): Show a0001c0001t0001g0213 a0001c0001t0005g0020 a0001c0001t0005g0021 a0001c0001t0005g0074 a0001c0001t0005g0075 a0001c0001t0005g0078	6	268	0.0224	411	c.75 others(422): Show c.7501_*7502insATTATAAAATATAATTATATATGATTATAAAATA TAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAAT TATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATA TATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATG ATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTA TAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAA ATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATAT AATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATT ATATATGATTATAAAATATAATTATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4122		chr10	TogoVar
SUFU_chr10_102498972_102638535	102637656	G G	GATTATAA others(404): Show GATTATAAAATATAATTATATATTATATATGATTATAAAATATAATTATA TATATTATATATGATTATAAAATATAATTATATATTATATATGATTATAA AATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATA TAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAAT TATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATA TATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATG ATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTA TAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAA ATATAATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0234 a0001c0001t0006g0234	1	268	0.0037	411	c.75 others(422): Show c.7501_*7502insATTATAAAATATAATTATATATTATATATGATTA TAAAATATAATTATATATATTATATATGATTATAAAATATAATTATATAT TATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATA TATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATG ATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTA TAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAA ATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATAT AATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATT ATATATGATTATAAAATATAATTATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4122		chr10	TogoVar
SUFU_chr10_102498972_102638535	102638057	A A	AAAAATAT others(404): Show AAAAATATATATAATATATTATATATGATCATAATATATAATATATTATA TATGATCATATAAAATATATAATATATTATATATGATCATATAAAATATA TAATATATTATATATGATCATATAAAATATATAATATATTATATATGATC ATATAAATAATAATATATTAATATGATCATATAAATATATAATATATTAT ATATGATCATATAAAATATATAATATATTATACATGATCATATAAAATAT ATAATATACATGATCATATAAAATATATAATATAATATACATGATCATAT AAAATATATAATATACATGATCATATAAAATATATATTATACATGATCAT ATAAAAATATATATATTATATATGATCATATATAATATATAATATATTAT ATATGATCATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0107 a0001c0001t0004g0107	1	268	0.0037	411	c.79 others(422): Show c.7902_*7903insAAAATATATATAATATATTATATATGATCATAAT ATATAATATATTATATATGATCATATAAAATATATAATATATTATATATG ATCATATAAAATATATAATATATTATATATGATCATATAAAATATATAAT ATATTATATATGATCATATAAATAATAATATATTAATATGATCATATAAA TATATAATATATTATATATGATCATATAAAATATATAATATATTATACAT GATCATATAAAATATATAATATACATGATCATATAAAATATATAATATAA TATACATGATCATATAAAATATATAATATACATGATCATATAAAATATAT ATTATACATGATCATATAAAAATATATATATTATATATGATCATATATAA TATATAATATATTATATATGATCATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4523		chr10	TogoVar
SYT2_chr1_202585596_202715454	202672778	G G	GGAGGGGG others(404): Show GGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGGGGGAGGG GGGAGAGAGGGGGAGGGGGGAGAGAGGGGGAGGGAGGGGGGAGAGAGGGG GGAGAGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAG GGGGAGAGAGAGGGGGAGGGAGGGGGAGAGAGAGGGGGAGGGAGGGAGGG GGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGA GAGAGAGGGGGAGGGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAG GGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGG GAGAGAGAGGGGGAGGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGAGGGA GAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0220 a0001c0001t0004g0220	1	276	0.0036	411	c.-18 others(430): Show c.-18+37479_-18+37480insTCTCTCTCTCTCTCCCTCCCTCCCTC CCTCCCCCTCTCTCTCCCCCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCC CTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCT CTCTCCCCCCTCCCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCC CCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCC CCCTCTCTCTCCCCCTCCCTCCCCCTCTCTCTCCCCCTCCCTCCCCCTCT CTCTCCCCCCTCCCTCCCCCCTCCCTCCCCCTCTCCCCCCTCTCTCCCCC CTCCCTCCCCCTCTCTCCCCCCTCCCCCTCTCTCCCCCCTCCCCCTCTCT CCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
TCF3_chr19_1604292_1657615	1628838	C C	CGGGGTGA others(404): Show CGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGATGAGGCGGGAA GGGGACAGCAGAACTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAACT CACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGG GAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGA GCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGTG GGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGA GCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGA GGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACA GCAGAGCTCACG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0023 a0001c0005t0023	a0001c0005t0023g0032 a0001c0005t0023g0032	1	352	0.0028	411	c.299 others(428): Show c.299-1413_299-1412insCGTGAGCTCTGCTGTCCCCTTCCCGCCT CACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCT CTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCC CGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAG CTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCC CGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGT GAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCT TCCCGCCTCACCCCCTGTGAGTTCTGCTGTCCCCTTCCCGCCTCATCCCC GTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628871	C C	CGGGGTGA others(404): Show CGGGGTGAGGTGGGAAGGGGACACCAGAGCTCACAGGGGGTGATGCGGGA AGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAAGGGACAGCAGAAC TCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGTGGGGCGG GAAGGGGACAGCAGAGCTCATGGGGATGGGGCGGGAAGGGGACAGCAGAG CTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGTG GGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAG AGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTG AGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGTGGGAAGGGGACAG CAGAGCTCACAG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0098 a0001c0003t0008g0098	1	352	0.0028	411	c.299 others(428): Show c.299-1446_299-1445insCTGTGAGCTCTGCTGTCCCCTTCCCACC TCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTC TGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCC GCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAG CTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTC CCGCCCCATCCCCATGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCTGTG AGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCTTT CCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCATCACCCCCT GTGAGCTCTGGTGTCCCCTTCCCACCTCACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TECPR1_chr7_98209624_98257232	98243105	C C	CCCACCCA others(404): Show CCCACCCATCCACCCATCCATCCACACACCCACCTATCCATCCTTCTGCC CACACACCCACCCATCCACCCATCCATCCACACACCCACCTATCCATCCT TCTGCCCACACACCACCCATCCACCCATCCATCCACACACCCACCTATCC ATCCTTCTGCCCACACACCACCCATCCACCCATCCATCCACACACCCACC CACCCATCCATCCACACATCCACCCACACCCATCCATCCATCCACCCACC CATCCACCCATCCATCCACACACCCACCTATCCATCCTTCTGCCCACACA CCCACCCATCCACCCATCCATCCACACACCCACCTATCCATCCATCTGCC CACACACCCACCCATCCACCCATCCATCCACACACCCACCTATCCATCCT TCTGCCCACACA	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19066.hp2 NA19080.hp2 NA19007.hp2 NA19066.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0052 a0001c0001t0009g0056 a0001c0001t0009g0078 a0001c0001t0009g0052 a0001c0001t0009g0056 a0001c0001t0009g0078	3	346	0.0087	411	c.657 others(426): Show c.657+361_657+362insTGTGTGGGCAGAAGGATGGATAGGTGGGTG TGTGGATGGATGGGTGGATGGGTGGGTGTGTGGGCAGATGGATGGATAGG TGGGTGTGTGGATGGATGGGTGGATGGGTGGGTGTGTGGGCAGAAGGATG GATAGGTGGGTGTGTGGATGGATGGGTGGATGGGTGGGTGGATGGATGGA TGGGTGTGGGTGGATGTGTGGATGGATGGGTGGGTGGGTGTGTGGATGGA TGGGTGGATGGGTGGTGTGTGGGCAGAAGGATGGATAGGTGGGTGTGTGG ATGGATGGGTGGATGGGTGGTGTGTGGGCAGAAGGATGGATAGGTGGGTG TGTGGATGGATGGGTGGATGGGTGGGTGTGTGGGCAGAAGGATGGATAGG TGGGTGTGTGGATGGATGGGTGGATGGGTGG	TECPR1	ENSG00000205356.10	transcript	ENST00000447648.7	protein_coding	6/25			chr7	TogoVar
TERT_chr5_1248167_1300068	1272573	C C	CCACACAT others(404): Show CCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACC CCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATC CACAGTCACCACACATCAGACCCCTGTGACCGACTGCCATCCACAGTCAC CACACATCAGACCCTACGACCGCCATCCACAGTCACCACACATCAGACCC CACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCAC AGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATC AGACCCCTGTGACCGATCACCATCCACAGTCACCACACATCAGACCCCAC GACCGCCATCCACAGTCACCACACATCAGACCCCTGTGACCGATCACCAT CCACAGTCACCA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01081.hp2 HG01515.hp1 HG00323.hp2 HG01081.hp2 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0163 a0001c0001t0001g0181 a0001c0001t0002g0207 a0001c0001t0001g0163 a0001c0001t0001g0181 a0001c0001t0002g0207	3	392	0.0077	411	c.228 others(428): Show c.2287-294_2287-293insTGGTGACTGTGGATGGTGATCGGTCACA GGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGT GGTGACTGTGGATGGTGATCGGTCACAGGGGTCTGATGTGTGGTGACTGT GGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTG GGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGT GACTGTGGATGGCGGTCGTAGGGTCTGATGTGTGGTGACTGTGGATGGCA GTCGGTCACAGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGG TCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTG ACTGTGGATGGCGGTCGTGGGGTCTGATGTGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273262	A A	ACATCAGA others(404): Show ACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCCG GGACCAACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCC ACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAG ACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCAT CCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACA TCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGAC CGCCATCCACAGTCACATCAGACCCCACGACCGCCATCCACAGTCACATC AGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCC ATCCACAGTCAC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0351 a0001c0001t0001g0351	1	392	0.0026	411	c.228 others(428): Show c.2287-983_2287-982insGTGACTGTGGATGGCGGTCGTGGGGTCT GATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGACTGTGGATG GCGGTCGTGGGGTCTGATGTGACTGTGGATGGCGGTCGTGGGGTCTGATG TGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGG ATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGT GGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGGTGACTGTGGATGGCGGTTGGTCCCGGGGGTCTGATGTGT GGTGACTGTGGATGGCGGTCGTGGGGTCTGATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THBS2_chr6_169210785_169258846	169242691	T T	TCTTCCCA others(404): Show TCTTCCCACCTTCCCACCACTCCCGCCTTCCCACCTTCCCACCTTCCCAC CGCTCCCACCTTCCCACCTTCCCATCTTCCCATCTTCCCACCACTCCCAC CTTCCCACCTTCCCACCACTCCCACCTTCCCACCTTCCCACCTTCCCATC TTCCCATCTTCCCACCTTCCCACCACTCCCACCTTCCCACCTTCCCACCA CTCCCACCTTCCCACCTTCCCACCTTCCCATCTTCCCACCTTCCCACCAC TCCCGCCTTCCCACCTTCCCACCTTCCCACCGCTCCCACCTTCCCACCTT CCCATCTTCCCATCTTCCCACCACTCCCACCTTCCCACCTTCCCACCACT CCCACCTTCCCACCTTCCCACCTTCCCATCTTCCCATCTTCCCACCTTCC CACCACTCCCAC	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	396	0.0025	411	c.695 others(426): Show c.695-734_695-733insGTGGGAGTGGTGGGAAGGTGGGAAGATGGG AAGATGGGAAGGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGA AGGTGGGAGTGGTGGGAAGATGGGAAGATGGGAAGGTGGGAAGGTGGGAG CGGTGGGAAGGTGGGAAGGTGGGAAGGCGGGAGTGGTGGGAAGGTGGGAA GATGGGAAGGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAG GTGGGAGTGGTGGGAAGGTGGGAAGATGGGAAGATGGGAAGGTGGGAAGG TGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGA TGGGAAGATGGGAAGGTGGGAAGGTGGGAGCGGTGGGAAGGTGGGAAGGT GGGAAGGCGGGAGTGGTGGGAAGGTGGGAAG	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21			chr6	TogoVar
TH_chr11_2158929_2176815	2161948	C C	CACCCCTG others(404): Show CACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTA TCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGG ACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTG TCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGG ACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGT CCCCACACCCCTGTCCCCAGACCCCTGTCCCCCACACCCCTGTCCCCCGG ACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGT CCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCAGGA CCCTGTCCCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0004 a0001c0003t0001g0004	1	388	0.0026	411	c.22 others(422): Show c.2284_*2285insCCGGGGACAGGGTCCTGGGGACAGGGGTGTGGGG ACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGT CTGGGGACAGGGGTGTGGGGACAGGGGTCCGGGGGACAGGGGTGTGGGGG ACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGT CTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGA CAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTC CTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGA CAGGGGTGTGGGGACAGGGGTGTGGGGATAGGGGTGTGGGGACAGGGGTG TGGGGACAGGGGTGTGGGGACAGGGGT	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		1980		chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930908	C C	CAGGGGTT others(404): Show CAGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGG GTTAGGGAGGCCGGGGTTATGGAGGCAGGGATTATGGAGGCAGGGATTAG GGAGGCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGG CTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCTGG GGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCCGGGGT TAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTATGG AGGCAGGGATTATGGAGGCAGGGATTAGGGAGGCAGGGATTAGGGAGGCC GGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGG GTTAGGGAGGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	466	0.0022	411	c.46 others(422): Show c.4682_*4683insAGCCTCCCTAACCCCTGGCCTCCCTAACCCCTGG CCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGCCTCC CTAATCCCTGCCTCCATAATCCCTGCCTCCATAACCCCGGCCTCCCTAAC CCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCTG GCCTCCCTGACCCTTGGTCTCCCTAACCCCAGCCTCCCTAACCCCTGGCC TCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCT AACCCCGGCCTCCCTAATCCCTGCCTCCCTAATCCCTGCCTCCATAATCC CTGCCTCCATAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCC TCCCTAACCCCAGCCTCCCTAACCCCT	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4461		chr11	TogoVar
TP73_chr1_3647516_3741201	3706425	G G	GGGGGTAA others(404): Show GGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCCGGGGAGAGGGG GGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCTGGGGAGAGGGGTAA TAGGGACAATCACGGTGCCCGCCGCAGGCCCGGGGAGAGGGGGGTAATAG GGACAATCACGGTGCCCGCCGCAGGCCCGGGGAGGGGGGTAATAGGGACA ATCACGGTGCCCGCCGCAGGCCTGGGGAGAGGGGTAATAGGGACAATCAC GGTGCCCGCCGCAGGCCCGGGGAGAGGGGGGTAATAGGGACAATCACGGT GCCCGCCGCAGGCCCGGGGAGGGGGGTAATAGGGACAATCACGGTGCCCG CCGCAGGCCCGGGGAGGGGGGTAATAGGGACAATCACGGTGCCCGCCGCA GGCCCGGGGAGA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02965.hp2 HG02922.hp1 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0089 a0001c0002t0001g0198 a0001c0002t0001g0089 a0001c0002t0001g0198	2	358	0.0056	411	c.187 others(428): Show c.187-1075_187-1074insGGTAATAGGGACAATCACGGTGCCCGCC GCAGGCCTGGGGAGAGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGG CCCGGGGAGAGGGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCC GGGGAGGGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCTGGGGA GAGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCCGGGGAGAGGG GGGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCCGGGGAGGGGGGTA ATAGGGACAATCACGGTGCCCGCCGCAGGCCCGGGGAGGGGGGTAATAGG GACAATCACGGTGCCCGCCGCAGGCCCGGGGAGAGGGGTAATAGGGACAA TCACGGTGCCCGCCGCAGGCCCGGGGAGAGGGG	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
TRIM2_chr4_153199443_153344317	153222058	A A	AAGGAAGG others(404): Show AAGGAAGGAGAGAGGGAGCGAGGGAGGAAGGAAGGAAGGAAGGAGGAAGG AAGGAAAGAAAGCAAGGAAGGGAGGGAGGAAGGAAGGGAAGGAGGAAGGA AGGAGGGAGGGAGGGAGGAAGGAAGGAGGAAGGAAGGAGGGAGGGAGGGA GGAAGGAAGGAAAGAGGAAGGAAGGAGGGAGGGAGGGAGGGAGGAAGGAG GAAGGAAGGAGGGAGGGAGGGAGGGAGGAAGGAGGAAGGAAGGAGGGAGG GAGGGAGGGAGGAAGGAAGGGAAGGAGGAAGGAAGGAGGGAGGGAGGAAG GAAGGAAGGAGGAAGGAAGGAAGGAGGAAGGAAGGAAGGAGGAAGGAAGG AGGGAGGGAGCGAGAGAGGAAGGAAGGGAGGGAGAAAAGAAGAGCGAGGG AGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0217 a0001c0001t0030g0217	1	268	0.0037	411	c.30+ others(428): Show c.30+17506_30+17507insGAGAGGGAGCGAGGGAGGAAGGAAGGAA GGAAGGAGGAAGGAAGGAAAGAAAGCAAGGAAGGGAGGGAGGAAGGAAGG GAAGGAGGAAGGAAGGAGGGAGGGAGGGAGGAAGGAAGGAGGAAGGAAGG AGGGAGGGAGGGAGGAAGGAAGGAAAGAGGAAGGAAGGAGGGAGGGAGGG AGGGAGGAAGGAGGAAGGAAGGAGGGAGGGAGGGAGGGAGGAAGGAGGAA GGAAGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGAAGGAGGAAGGAAGGA GGGAGGGAGGAAGGAAGGAAGGAGGAAGGAAGGAAGGAGGAAGGAAGGAA GGAGGAAGGAAGGAGGGAGGGAGCGAGAGAGGAAGGAAGGGAGGGAGAAA AGAAGAGCGAGGGAGGGAGGGAGGGAGGAAGGA	TRIM2	ENSG00000109654.16	transcript	ENST00000338700.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
TWIST2_chr2_238843085_238915534	238870633	C C	CCACACAC others(404): Show CCACACACACCACACCCCACACACACCACACCCCACACACACCACACCCC ATACACACCACACCCCACACACACCACACCCCACACACACCACACCCCAC ACACACCACACACCCCATACACACCACACACCCCCCACACACCACACCCC ACACACACCACACACCCCACACACACCACACCCCACACACACCACACCCC ACACACACCACACCCCACACACACCACACACCCCATACACACCACACACC CCCCACACACCACACCCCATACACACCACACACCCCACACACACCACACC CCACACACACCACACCCCACACACCACACCCCACACACACCACACACCCC ACACACACCACACCCCACACACACCACACACCCCCCACACACCACACCCC ATACACACCACA	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA19004.hp1 HG00621.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0284 a0001c0001t0001g0046 a0001c0001t0001g0284	2	338	0.0059	411	c.35 others(430): Show c.35+21901_*35+21902insACACACACCACACCCCACACACACCA CACCCCACACACACCACACCCCATACACACCACACCCCACACACACCACA CCCCACACACACCACACCCCACACACACCACACACCCCATACACACCACA CACCCCCCACACACCACACCCCACACACACCACACACCCCACACACACCA CACCCCACACACACCACACCCCACACACACCACACCCCACACACACCACA CACCCCATACACACCACACACCCCCCACACACCACACCCCATACACACCA CACACCCCACACACACCACACCCCACACACACCACACCCCACACACCACA CCCCACACACACCACACACCCCACACACACCACACCCCACACACACCACA CACCCCCCACACACCACACCCCATACACACCACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
UMAD1_chr7_7635752_7884223	7679096	A A	AATATATA others(404): Show AATATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0157 a0001c0001t0042g0157	1	250	0.0040	411	c.82+ others(426): Show c.82+5644_82+5645insTATATATTTACATATTTAGTTTATAAATAT ATATTTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATAT ATATTTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATAT ATATTTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATAC ATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAA ATACATATTTATATATTTAGTTTATAAATACATATTTATATATTTAATTT ATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTA TATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATA AATATATATTTATATATTTAATTTATAGATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UNC5D_chr8_35230475_35801540	35248360	A A	AGATATAT others(404): Show AGATATATAATATATAAATATATGTTATATAAGATATATAATATATAAAT ATATGTTATATAAGATATATAATATATAAATATATGTTATATAAGATATA TAATATATAAATATATGTTATATAAGATATATAATATATAAATATATGTT ATATAAGATATATAATATATAAATATATGTTATATAAGATATATAATATA TAAATATATGTTATATAAGATATATAATATATAAATATATGTTATATAAG ATATATAATATATAAATATATGTTATATAAGATATATAATATATAAATAT ATGTTATATAAGATATATAATATATAAATATATGTTATATAAGAAATAGA TATAATATATAAATATATGTTATATAAGAAATAGATATAATATATAAATA TATGTTATATAT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG03927.hp1 HG02129.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0051 a0001c0001t0001g0042 a0001c0001t0001g0051	2	64	0.0313	411	c.103 others(430): Show c.103+12475_103+12476insTATATAATATATAAATATATGTTATA TAAGATATATAATATATAAATATATGTTATATAAGATATATAATATATAA ATATATGTTATATAAGATATATAATATATAAATATATGTTATATAAGATA TATAATATATAAATATATGTTATATAAGATATATAATATATAAATATATG TTATATAAGATATATAATATATAAATATATGTTATATAAGATATATAATA TATAAATATATGTTATATAAGATATATAATATATAAATATATGTTATATA AGATATATAATATATAAATATATGTTATATAAGATATATAATATATAAAT ATATGTTATATAAGAAATAGATATAATATATAAATATATGTTATATAAGA AATAGATATAATATATAAATATATGTTATATATGA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
VCX3B_chrX_8459830_8471510	8466895	A A	AGAGGTGG others(404): Show AGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGA GGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA GGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAG AGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAG GGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGA GGAGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGG GAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGG AGGGAGGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0006 a0005c0005t0006	a0005c0005t0006g0005 a0005c0005t0006g0005	1	271	0.0037	411	c.51 others(420): Show c.512_*513insGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGA AGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGT GGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA GGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTG TGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAG GGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGA GGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGG GAGGGAGGGAGGGAGGGAGGAAGAG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		386		chrX	TogoVar
WDR87_chr19_37879823_37911594	37881138	T T	TATATAAT others(404): Show TATATAATATATATATTATATATATAATATATATATTATATATATATTAT ATATATATTATATATATATAATATATATATATTATATATATATAATATAT ATATTATATATATATATAATATATATATTATATATATATATAATATATAT ATATTATATATATATATAATATATATATTATATATATATATAATATATAT ATATTATATATATATATAATATATATATATTATATATATATAATATATAT ATTATATATATATAATATATATATTATATATATATTATATATATATTATA TAATATAATATTATTATATATTATATAATATATATATAATATATAATAAT ATATAATATATATAATATATATATTATATATATATATTATATATATATAT ATATATAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0001 a0011c0012t0001	a0011c0012t0001g0113 a0011c0012t0001g0113	1	330	0.0030	411	c.37 others(422): Show c.3793_*3794insCTCTCTATATATATATATATATATAATATATATA TATAATATATATATTATATATATTATATATTATTATATATTATATATATA TTATATAATATATAATAATATTATATTATATAATATATATATAATATATA TATAATATATATATTATATATATATAATATATATATTATATATATATAAT ATATATATATTATATATATATATAATATATATATATTATATATATATATA ATATATATATTATATATATATATAATATATATATATTATATATATATATA ATATATATATTATATATATATATAATATATATATTATATATATATAATAT ATATATATTATATATATATAATATATATATAATATATATATAATATATAT ATTATATATATAATATATATATTATAT	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3684		chr19	TogoVar
ZNF365_chr10_62369369_62407450	62370969	G G	GATATATA others(404): Show GATATATATGGTATACATGATATATATCATATATATCATATGTGATATAT ATGATACATATGACATATATCATATGTGATACATATGACATATATCATAT GTGATACATATGACATATATCATATGTGATACATATGACATATATCATAT GTGATACATATGACATATATCATATGTGATATATGTCACATATATCATAT GTGATATATGTCACATATATCATATGTGATATATGTCACATATATCACAT GTGATATATATCATATATATCATATATATGATATATATCATATATCATAT ATATGATATATATCATATATCATATATATGATATATATCACATATATATA TCATATATATCACATATATATCATATATATCATATATATATCATATATAT GATATATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0028 a0002c0002t0001g0028	1	350	0.0029	411	c.-35 others(422): Show c.-3503_-3502insATATATATGGTATACATGATATATATCATATATA TCATATGTGATATATATGATACATATGACATATATCATATGTGATACATA TGACATATATCATATGTGATACATATGACATATATCATATGTGATACATA TGACATATATCATATGTGATACATATGACATATATCATATGTGATATATG TCACATATATCATATGTGATATATGTCACATATATCATATGTGATATATG TCACATATATCACATGTGATATATATCATATATATCATATATATGATATA TATCATATATCATATATATGATATATATCATATATCATATATATGATATA TATCACATATATATATCATATATATCACATATATATCATATATATCATAT ATATATCATATATATGATATATATCAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3399		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370969	G G	GATATATA others(404): Show GATATATATGGTATATATGATACATATCATATATATCATATGTGATATAT ATGATACATATGACATATATCATATGTGATACATATGACATATATCATAT GTGATACATATGACATATATCATATGTGATACATATGACATATATCATAT GTGATACATATGACATATATCATATGTGATACATATGACATATATCATAT GTGATACATATGACATATATCATATGTGATATATGTCACATATATCACAT ATGATATATATCATATATATCATATATATGATATATATCATATATATCAT ATATATGATATATATCATATATATCATATATATGATATATATCATATATC ATATATATGATATATATCACATATATATATCATATATATCACATATATAT CATATATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0004 a0005c0004t0004	a0005c0004t0004g0094 a0005c0004t0004g0094	1	350	0.0029	411	c.-35 others(422): Show c.-3503_-3502insATATATATGGTATATATGATACATATCATATATA TCATATGTGATATATATGATACATATGACATATATCATATGTGATACATA TGACATATATCATATGTGATACATATGACATATATCATATGTGATACATA TGACATATATCATATGTGATACATATGACATATATCATATGTGATACATA TGACATATATCATATGTGATACATATGACATATATCATATGTGATATATG TCACATATATCACATATGATATATATCATATATATCATATATATGATATA TATCATATATATCATATATATGATATATATCATATATATCATATATATGA TATATATCATATATCATATATATGATATATATCACATATATATATCATAT ATATCACATATATATCATATATATCAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3399		chr10	TogoVar
ABCB11_chr2_168915781_169036324	168975476	T T	TATAAATA others(405): Show TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAAATATATAAATATTTTTATATTTATAAATATATAAATATTTTTATATT TATAAATATATAAATATTTTTATATTTATAAATATATAAATATTTTTATA TTTATAGATAAATATATCAATATTTTTATATTTATAGATAAATATATCAA TATATAAATATTTTTATATTTATAGATAAATATATCAATATATAAATATT TTTATATTTATAGATAAATATATAAATATATAAATATTTTTATATTTATA GATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTT TATATTTATAAATATATAAATATTTTTATATTTATAAATATATAAATATT TTTATATTTATAG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02451.hp2 HG03453.hp1 HG01496.hp2 HG02451.hp2 HG03453.hp1	a0003 a0003	a0003c0014 a0003c0051 a0003c0014 a0003c0051	a0003c0014t0005 a0003c0051t0001 a0003c0014t0005 a0003c0051t0001	a0003c0014t0005g0089 a0003c0014t0005g0091 a0003c0051t0001g0011 a0003c0014t0005g0089 a0003c0014t0005g0091 a0003c0051t0001g0011	3	306	0.0098	412	c.130 others(431): Show c.1308+1100_1308+1101insCTATAAATATAAAAATATTTATATAT TTATAAATATAAAAATATTTATATATTTATAAATATAAAAATATTTATAT ATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAA ATATTTATATATTTATATATTTATCTATAAATATAAAAATATTTATATAT TGATATATTTATCTATAAATATAAAAATATTTATATATTGATATATTTAT CTATAAATATAAAAATATTGATATATTTATCTATAAATATAAAAATATTT ATATATTTATAAATATAAAAATATTTATATATTTATAAATATAAAAATAT TTATATATTTATAAATATAAAAATATTTATATATTTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975476	T T	TATAAATA others(405): Show TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAAATATATAAATATTTTTATATTTATAAATATATAAATATTTTTATATT TATAAATATATAAATATTTTTATATTTATAAATATATCAATATTTTTATA TTTATAGATAAATATATCAATATTTTTATATTTATAGATAAATATATCAA TATATAAATATTTTTATATTTATAGATAAATATATCAATATATAAATATT TTTATATTTATAGATAAATATATAAATATATAAATATTTTTATATTTATA GATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTT TATATTTATAAATATATAAATATTTTTATATTTATAAATATATAAATATT TTTATATTTATAG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0004 a0003c0017t0004	a0003c0017t0004g0013 a0003c0017t0004g0013	1	306	0.0033	412	c.130 others(431): Show c.1308+1100_1308+1101insCTATAAATATAAAAATATTTATATAT TTATAAATATAAAAATATTTATATATTTATAAATATAAAAATATTTATAT ATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAA ATATTTATATATTTATATATTTATCTATAAATATAAAAATATTTATATAT TGATATATTTATCTATAAATATAAAAATATTTATATATTGATATATTTAT CTATAAATATAAAAATATTGATATATTTATCTATAAATATAAAAATATTG ATATATTTATAAATATAAAAATATTTATATATTTATAAATATAAAAATAT TTATATATTTATAAATATAAAAATATTTATATATTTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABHD12B_chr14_50867053_50909970	50870945	A A	AAGAAAGA others(405): Show AAGAAAGAGAGAGAGAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGAAAGAAAGAAAGAAA GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAAAGAAAGAAAGAAAGA AAGAAAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGA AAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAAAGAAAGAAAGAAA GAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0203 a0002c0002t0002g0203	1	376	0.0027	412	c.-12 others(423): Show c.-1230_-1229insAGAAAGAGAGAGAGAGAAAGAAAGAAAGAAAGAG AGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAG AAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAG AGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAA AGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAG AAAGAAAGAAAGAAAGAAAGAAAGAAAG	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1107		chr14	TogoVar
ABR_chr17_998519_1184981	1163995	G G	GCCCCAGA others(405): Show GCCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGAGCATCC AGGTGGGACCCTGGCAAAGTGTCACACACAGCACTGAATCCAGACGCAGG GGCCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGAGGATC TAGGTAGGACGGACCCTGGCAAAGTGTCACACACAGCACTGAATCCAGAC GCAGGGACCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGA GCATCTAGGTAGGACGGACCCTGGCAAAGTGTCACACACAGCACTGAATC CAGACGCAGGGACCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATG TCGGAGCATCCAGGTGGGACCCTGGCAAAGTGTCACACACAGCACTGAAT CCAGACGCAGGGA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0092 a0001c0002t0092	a0001c0002t0092g0336 a0001c0002t0092g0336	1	337	0.0030	412	c.61+ others(429): Show c.61+15671_61+15672insTCCCTGCGTCTGGATTCAGTGCTGTGTG TGACACTTTGCCAGGGTCCCACCTGGATGCTCCGACATCCATGTTCACTG GGCGTCTTGCAGTTTATCTGGGGTCCCTGCGTCTGGATTCAGTGCTGTGT GTGACACTTTGCCAGGGTCCGTCCTACCTAGATGCTCCGACATCCATGTT CACTGGGCGTCTTGCAGTTTATCTGGGGTCCCTGCGTCTGGATTCAGTGC TGTGTGTGACACTTTGCCAGGGTCCGTCCTACCTAGATCCTCCGACATCC ATGTTCACTGGGCGTCTTGCAGTTTATCTGGGGCCCCTGCGTCTGGATTC AGTGCTGTGTGTGACACTTTGCCAGGGTCCCACCTGGATGCTCCGACATC CATGTTCACTGGGCGTCTTGCAGTTTATCTGGGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ACAP3_chr1_1287391_1312930	1288681	T T	TCCCCCGT others(405): Show TCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGT CTCTGCCCCGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	295	0.0034	412	c.48 others(423): Show c.4882_*4883insGGACGGGGCAGAGACACGGGACGGAGCAGAGACT CGGGGGACGGAGCAGGGACACGGGACGGAGCAGGGACACGGGACGGAGCA GAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGAC GGAGCAGAGACTCGGGGGACGGAGCAGGGACACGGGACGGAGCAGGGACA CGGGACGGAGCAGGGACACGGGACGGAGCAGAGACACGGGGGACGGAGCA GGGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGG GGCAGAGACACGGGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACG GGACGGAGCAGAGACACGGGGGACGGGGCAGAGACACGGGACGGGGCAGA GACACGGGACGGGGCAGAGACACGGGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3709		chr1	TogoVar
ACOT11_chr1_54543228_54615329	54561917	C C	CCCCCCCC others(405): Show CCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCTCTCACCTCCCGGA CGGGGCAGCTGGCTGGGCGGGGGGGCTGACCCCCCCCCCACCTCCCTCCC GGATGGGGCGGCTGGCCGGGTGAGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCAG GGGGGCTGACCCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCCGA	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0346 a0001c0007t0002g0346	1	388	0.0026	412	c.33+ others(429): Show c.33+13582_33+13583insCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC TCTCACCTCCCGGACGGGGCAGCTGGCTGGGCGGGGGGGCTGACCCCCCC CCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGTGAGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC GGCTGGCTGGGCAGGGGGGCTGACCCCCCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCC	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACOT11_chr1_54543228_54615329	54561945	G G	GGCTGGCC others(405): Show GGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCTCTCACCTCCCGGACGGGGCAGCTGGCTGGGCGGGGGGGCTGA CCCCCCCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGTGAGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCC CGGACGGGGCGGCTGGCTGGGCAGGGGGGCTGACCCCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02647.hp1 HG02280.hp1 HG02647.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0028 a0002c0002t0003g0176 a0002c0002t0003g0028 a0002c0002t0003g0176	2	388	0.0052	412	c.33+ others(429): Show c.33+13614_33+13615insGGGGGGCTGACACCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCTCTCACCTCCCGGACGGGGCAGCTGGCTGGGCG GGGGGGCTGACCCCCCCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGC CGGGTGAGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCTGGGCAGGGGGGCTGACCCCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGC	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar

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Search Results (Total: 10000 hits)