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
LHFPL3_chr7_104323603_104913561	104824192	T T	TATTATAT others(522): Show TATTATATATTATATATTATATATATAATATATATATTATATATTATATA TATAATATATATTATATATTATATATAATATATATTATATATTATATATA ATATATTATATATTATATATAATATATTATATATTATATATATAATATAT TATATATTATATATATAATATATTATATATTATATATTATATATATTATA TTATATATTATATATAATTATATATATTTTATATATTATATATTATATAT TATATATTATATATTATATATATTATATATTATATATTATATATTATATA TATTATATATTATATATACAATTATATATATTATATATATTATATATTAT ATAATATATTATATATATAATATATATTATATATTATATATTATATAATA TATTATATATATAATATATATTATATATTATATATTATATAATATATTAT ATATATAATATATTATATATTATATATTATATAATATATTATATATTATA TATATTATATATTATATATTATATATTATA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0014 a0001c0001t0006g0014	1	86	0.0116	529	c.683 others(548): Show c.683-81995_683-81994insATTATATATTATATATTATATATATA ATATATATATTATATATTATATATATAATATATATTATATATTATATATA ATATATATTATATATTATATATAATATATTATATATTATATATAATATAT TATATATTATATATATAATATATTATATATTATATATATAATATATTATA TATTATATATTATATATATTATATTATATATTATATATAATTATATATAT TTTATATATTATATATTATATATTATATATTATATATTATATATATTATA TATTATATATTATATATTATATATATTATATATTATATATACAATTATAT ATATTATATATATTATATATTATATAATATATTATATATATAATATATAT TATATATTATATATTATATAATATATTATATATATAATATATATTATATA TTATATATTATATAATATATTATATATATAATATATTATATATTATATAT TATATAATATATTATATATTATATATATTATATATTATATATTATATATT ATA	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2			chr7	TogoVar
MACF1_chr1_39199695_39492138	39234647	A A	ACCGCCCC others(522): Show ACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCG CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCC CCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGAG GCGGCTGGCTGGGCCGGGGGCTGACCCCCCCCACCTCCCTCCCGGATGGG GTGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCAGACG GGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGG GGCGGCTGGCCTGGCGGGGGGCTGACCCCC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	246	0.0041	529	c.171 others(546): Show c.171+3406_171+3407insGCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGGGGGCTGACCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCC CACCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGGCTGACCCCCC CCCACCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCC C	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	2/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAPK11_chr22_50258713_50275380	50274865	C C	CTCCCAAC others(522): Show CTCCCAACCCCCCACCTCCCCCCAGCACCCCTCCCAACCCCCCACCTCCC CCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCCAGCACCCCTCCCAGC CCCCTCCACCTCCCCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCCA GCACCCCTCCCAGCCCCCTCCACCTCCCCCCAGCACCCCTCCCAGCCCCC TCCACCTCCCCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCAGCACC CCTCCAGCCCCCTCCACCTCCCCCAGTACCCCTCCCAGCCCCTTCCACCT CCCCCAGCACCCCTCCCAACCCCCCACCTCCCCCCAGCACCCCTCCCAGC CCCCTCCACCTCCCCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCAG CACCCCTCCCAGCCCCCTCCACCTCCCCCAGCACCACCCCCAGCCCCCTC CACCTCCCCCAGCATCCCTCCCAGCCCCCTCCACCTTTCCCAGCACCCTT CCCAGCCCCCTCCACCTCCCCACAGCTCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0012 a0001c0001t0005g0012	1	428	0.0023	529	c.-45 others(540): Show c.-4574_-4573insTGGAGCTGTGGGGAGGTGGAGGGGGCTGGGAAGG GTGCTGGGAAAGGTGGAGGGGGCTGGGAGGGATGCTGGGGGAGGTGGAGG GGGCTGGGGGTGGTGCTGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGG GGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGGGGAGGTGGAGGGGGCTG GGAGGGGTGCTGGGGGGAGGTGGGGGGTTGGGAGGGGTGCTGGGGGAGGT GGAAGGGGCTGGGAGGGGTACTGGGGGAGGTGGAGGGGGCTGGAGGGGTG CTGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGGGGAGGTGGAGGGG GCTGGGAGGGGTGCTGGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGG GGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGGGGAGGTGGAGGGGGCTG GGAGGGGTGCTGGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGGGGA GGTGGGGGGTTGGGAGGGGTGCTGGGGGGAGGTGGGGGGTTGGGA	MAPK11	ENSG00000185386.15	transcript	ENST00000330651.11	protein_coding		4486		chr22	TogoVar
MBD3L3_chr19_7051207_7063676	7061870	T T	TATAATAT others(522): Show TATAATATATAATTATATTCTATATAGAATATAATTATATAATATATAAT TATATTATATATTATATAATTATAATATAATTATATAATATAATTATATT ATATAATTATAATATAATTATATAATATAATTATATTATATATAATTATA TTAAATATATTATATAATATATAATTATATTATATATTATATAATATATA ATTATATTATATATTATATAATATATAATTATATTATATATTATAATACA TTTAATATAATTATATTATAGATTATAATCTATAATATAATTATATTAAT AGTATTATAATATATAATATATTATATATAATTATATTATAACATATTAT ATATAATTATATTATAGATCATAATCTATAATATAATTATATATAATATG TTATAATATATAATTATATTCTATATATAATTATATATAATATAATTATA TTCTGTATATAATTATATATAATTATATTCTATATATAATATAATTATAT ATAATTATATACAGAATATAATTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01361.hp2 HG01168.hp2 HG01361.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0002 a0003c0003t0001g0002	2	288	0.0069	529	c.-32 others(540): Show c.-3266_-3265insTATATATAATTATATTCTGTATATAATTATATAT AATTATATTATATATAGAATATAATTATATATAATTATATACAGAATATA ATTATATTATATATAATTATATATAGAATATAATTATATATTATAACATA TTATATATAATTATATTATAGATTATGATCTATAATATAATTATATATAA TATGTTATAATATAATTATATATAATATATTATATATTATAATACTATTA ATATAATTATATTATAGATTATAATCTATAATATAATTATATTAAATGTA TTATAATATATAATATAATTATATATTATATAATATATAATATAATTATA TATTATATAATATATAATATAATTATATATTATATAATATATTTAATATA ATTATATATAATATAATTATATTATATAATTATATTATAATTATATAATA TAATTATATTATATAATTATATTATAATTATATAATATATAATATAATTA TATATTATATAATTATATTCTATATAGAATATAATTATATATTAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3195		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061870	T T	TATAATAT others(522): Show TATAATATATAATTATATTCTATATATAATATAATTATATAATATATAAT TATATTATATATTATATAATTATAATATAATTATATAATATAATTATATT ATATAATTATAATATAATTATATAATATAATTATATTATATATAATTATA TTAAATATATTATATAATATATAATTATATTATATATTATATAATATATA ATTATATTATATATTATATAATATATAATTATATTATATATTATAATACA TTTAATATAATTATATTATAGATTATAATCTATAATATAATTATATTAAT AGTATTATAATATATAATATATTATATATAATTATATTATAACATATTAT ATATAATTATATTATAGATCATAATCTATAATATAATTATATATAATATG TTATAATATATAATTATATTCTATATATAATTATATATAATATAATTATA TTCTGTATATAATTATATATAATTATATTCTATATATAATATAATTATAT ATAATTATATACAGAATATAATTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0002 a0003c0003t0001g0002	1	288	0.0035	529	c.-32 others(540): Show c.-3266_-3265insTATATATAATTATATTCTGTATATAATTATATAT AATTATATTATATATAGAATATAATTATATATAATTATATACAGAATATA ATTATATTATATATAATTATATATAGAATATAATTATATATTATAACATA TTATATATAATTATATTATAGATTATGATCTATAATATAATTATATATAA TATGTTATAATATAATTATATATAATATATTATATATTATAATACTATTA ATATAATTATATTATAGATTATAATCTATAATATAATTATATTAAATGTA TTATAATATATAATATAATTATATATTATATAATATATAATATAATTATA TATTATATAATATATAATATAATTATATATTATATAATATATTTAATATA ATTATATATAATATAATTATATTATATAATTATATTATAATTATATAATA TAATTATATTATATAATTATATTATAATTATATAATATATAATATAATTA TATATTATATAATTATATTATATATAGAATATAATTATATATTAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3195		chr19	TogoVar
MCF2L2_chr3_183173041_183433619	183314948	T T	TTGAGACA others(522): Show TTGAGACAGAATTTCACTCTTGTTGCCCAGGCTGGAGTACAATGGTACGA TCTCAGCTCATTGCAACCTCCGCCTCCCAGGTTCAAGAGATTCTCCTGCC TCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATGTCCGGGT AATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCGTGTTGGTCAGGCTGG TCTCAAACTCCCGACTTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTG CTGGTATTACAGGTGTGAGCCACTGCACCTGGCCAGTATCTCTTTTTTTC TAATATAAACCATTTCTCTCTTTAAGCCATTTTTGGATGAGAAAGAGGAA ATATATAACTCTAGTTTAATGATTTTGGTATTCTTGCTTCTAAGCTACAA GATAACGAACAAAGAAATCAGATTTGAATTAGGACAATAATCAGTAATCA CAAAAAGGCCTTAAGAAATTCTCTGTATTTTTTTGGTTTGTTTTTTGTTT GTTTGTTTGTTTGTTTGTTTGTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18747.hp1 NA19058.hp2 HG02056.hp1 NA18747.hp1 NA19058.hp2	a0005 a0015 a0020 a0005 a0015 a0020	a0005c0007 a0015c0018 a0020c0034 a0005c0007 a0015c0018 a0020c0034	a0005c0007t0001 a0015c0018t0003 a0020c0034t0001 a0005c0007t0001 a0015c0018t0003 a0020c0034t0001	a0005c0007t0001g0036 a0015c0018t0003g0108 a0020c0034t0001g0104 a0005c0007t0001g0036 a0015c0018t0003g0108 a0020c0034t0001g0104	3	176	0.0171	529	c.753 others(546): Show c.753+3119_753+3120insCAAAACAAACAAACAAACAAACAAACAA ACAAACAAAAAACAAACCAAAAAAATACAGAGAATTTCTTAAGGCCTTTT TGTGATTACTGATTATTGTCCTAATTCAAATCTGATTTCTTTGTTCGTTA TCTTGTAGCTTAGAAGCAAGAATACCAAAATCATTAAACTAGAGTTATAT ATTTCCTCTTTCTCATCCAAAAATGGCTTAAAGAGAGAAATGGTTTATAT TAGAAAAAAAGAGATACTGGCCAGGTGCAGTGGCTCACACCTGTAATACC AGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGTCGGGAGTTTGA GACCAGCCTGACCAACACGGAGAAACCCCATCTCTACTAAAAATACAAAA TTACCCGGACATGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCAATGAGCTGA GATCGTACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAATTCTGTCTC A	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	7/29			chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183314962	A A	ATTTCACT others(522): Show ATTTCACTCTTGTTGCCCAGGCTGGAGTACAATGGTACGATCTCAGCTCA TTGCAACCTCCGCCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGATTACAGGCATGCACCACCATGTCCGGGTAATTTTGTAT TTTTAGTAGAGATGGGGTTTCTCCGTGTTGGTCAGGCTGGTCTCAAACTC CCGACTTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGTATTAC AGGTGTGAGCCACTGCACCTGGCCAGTATCTCTTTTTTTCTAATATAAAC CATTTCTCTCTTTAAGCCATTTTTGGATGAGAAAGAGGAAATATATAACT CTAGTTTAATGATTTTGGTATTCTTGCTTCTAAGCTACAAGATAACGAAC AAAGAAATCAGATTTGAATTAGGACAATAATCAGTAATCACAAAAAGGCC TTAAGAAATTCTCTGTATTTTTTTGGTTTGTTTTTTGTTTGTTTGTTTGT TTGTTTGTTTGTTTTGTTTTCGAGATGGAG	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	176	0.0057	529	c.753 others(546): Show c.753+3105_753+3106insCTCCATCTCGAAAACAAAACAAACAAAC AAACAAACAAACAAACAAAAAACAAACCAAAAAAATACAGAGAATTTCTT AAGGCCTTTTTGTGATTACTGATTATTGTCCTAATTCAAATCTGATTTCT TTGTTCGTTATCTTGTAGCTTAGAAGCAAGAATACCAAAATCATTAAACT AGAGTTATATATTTCCTCTTTCTCATCCAAAAATGGCTTAAAGAGAGAAA TGGTTTATATTAGAAAAAAAGAGATACTGGCCAGGTGCAGTGGCTCACAC CTGTAATACCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGTC GGGAGTTTGAGACCAGCCTGACCAACACGGAGAAACCCCATCTCTACTAA AAATACAAAATTACCCGGACATGGTGGTGCATGCCTGTAATCCCAGCTAC TTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGC AATGAGCTGAGATCGTACCATTGTACTCCAGCCTGGGCAACAAGAGTGAA A	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	7/29			chr3	TogoVar
MINK1_chr17_4828340_4903061	4852769	T T	TGGGGGAG others(522): Show TGGGGGAGTGTGGTTGGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTT GGTGGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTTGGTGGGGGAGTGTG ATTGGTGGGGGAGTGTGGTTGGTAGGGGAGTGTGGTTGGTGGGGGAGTGT GGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTG TGGTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTGTGGTTGGTGGGGGAGT GTGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGTGGGGG AGTGTGGTTGGTGGGGGAGTGTGGTTGGGGGAGTGTGGTTGATGGGTGGA GTGTGGTTGAGGGGGAGTGTGGTTGAGGGGGAGTGTGGTTGGTGGGGGAG TGTGGTTGGTGGGGAGTGTGGTTGGTGGGGCAGTGTGGTTGATGGGGGGA GTGTGGTTGATGGGGAGTGTGGTTGATGGGGGGAGTGTGGTTGGTGGGGG AGTGTGGTTGGTGGGGGAGTGTGGTTGATG	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0095 a0001c0001t0048g0095	1	360	0.0028	529	c.57+ others(546): Show c.57+19144_57+19145insGTGGGGGGAGTGTGATTTGTGGGGGAGT GTGGTTGGTGGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTTGGTGGGGG AGTGTGATTGGTGGGGGAGTGTGGTTGGTAGGGGAGTGTGGTTGGTGGGG GAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGG GGAGTGTGGTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTGTGGTTGGTGG GGGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGGAGTGTGGTTGG TGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGGGGAGTGTGGTTGATG GGTGGAGTGTGGTTGAGGGGGAGTGTGGTTGAGGGGGAGTGTGGTTGGTG GGGGAGTGTGGTTGGTGGGGAGTGTGGTTGGTGGGGCAGTGTGGTTGATG GGGGGAGTGTGGTTGATGGGGAGTGTGGTTGATGGGGGGAGTGTGGTTGG TGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGATGGGGGGAGTGTGGTT G	MINK1	ENSG00000141503.17	transcript	ENST00000355280.11	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr17	TogoVar
MRTFA_chr22_40405289_40641719	40501684	C C	CCCCCCAC others(522): Show CCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCAGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCGGCTGGCCGGGCGGGAGGCTGACCCCCCCATCTCCCTCCCGGACGGG GTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGACA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	256	0.0039	529	c.242 others(548): Show c.242-38399_242-38398insTGTCAGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCAGCCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGG GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAG CCACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCTCCCGCCCGGCCAGC CGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCAGCCCGGCCAGCCACCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCTGGCCAGCTGCCCCGTCCGGGAGGGAGGTGG GGG	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MUSK_chr9_110663791_110811558	110690701	T T	TATATATT others(522): Show TATATATTTAAATATAAGTATATATATAAATATATATATTTATATATAAG TATATATATAAATATATATATTTATATATAAGTATATATATATTTATATA TAAGTATATATATATATTTATATATAAGTATATATATATATTTATATATA AGTATATATATAAATATATATATTTATATATAAGTATATATATATTTATA TATAAGTATATATAAATATATATTTATATATAAGTGTATATATATAAATA TATATATTTATATATAAGTATATATAAATATATATTTATATATAAGTATA TATAAATATATATATTTATATATAAGTATATATAAATATATATATTTAAA TATAAGTATATATAAATATATATATTTAAATATAAGTATATATATAATAT ATATTTAAATATAAGTATATATAAATATATATTTAAATATAAGTATATAT ATAAATATATATTTAAATATAAGTATATATATAAATATAAGTATATATAT AAATATATATTTAAATATAAGTATATATAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0040 a0001c0001t0010g0040	1	326	0.0031	529	c.358 others(546): Show c.358+3439_358+3440insTTAAATATAAGTATATATATAAATATAT ATATTTATATATAAGTATATATATAAATATATATATTTATATATAAGTAT ATATATATTTATATATAAGTATATATATATATTTATATATAAGTATATAT ATATATTTATATATAAGTATATATATAAATATATATATTTATATATAAGT ATATATATATTTATATATAAGTATATATAAATATATATTTATATATAAGT GTATATATATAAATATATATATTTATATATAAGTATATATAAATATATAT TTATATATAAGTATATATAAATATATATATTTATATATAAGTATATATAA ATATATATATTTAAATATAAGTATATATAAATATATATATTTAAATATAA GTATATATATAATATATATTTAAATATAAGTATATATAAATATATATTTA AATATAAGTATATATATAAATATATATTTAAATATAAGTATATATATAAA TATAAGTATATATATAAATATATATTTAAATATAAGTATATATAAATATA T	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MYDGF_chr19_4652545_4675342	4663552	C C	CCCACCCA others(522): Show CCCACCCACCCCATCCTCATTCTACAGCCTCCAATCTACCCTCCCCACCC ACCCCATCCTCATTCTACACAGCCTCCAATCTACCCTCCCCATCCACCCC ATCCTCATTCTACAGCCTTCAATCTACCCTCCCCACCCACCCCATCCTCA TTCTACAGCCTCCAATCTACCCTCCCCACCCGTCCTGTCCTCATTCTACA CAGCCTCCAATCTACCCTCCCCACCCGTCCTGTCCTCATTCTACACAGTC TCCAATCTACCCTCCCCACCCACCCCATCCTCATTCTACAGCCTCCAATC TGTGCCCTCTCCACCCATCCCATCCTCATTCTACACAGCCTCCAATCTAC GCTCCCATCCACCCCATCCTCATTCTACAGCATCCAATCTACTCTCCCCA CCTACCCCATCCTCATTCTACACAGCCTCCAATCTGTGCCCTCTCCACCC ACCCCATCCTCATTCTACACAGCCTCCAATCTACCCTCCCCACCCCATCC TCATTCTACAGCCTCCAACCTGTGCACTCT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0119 a0002c0002t0002g0119	1	410	0.0024	529	c.287 others(546): Show c.287+1323_287+1324insAGAGTGCACAGGTTGGAGGCTGTAGAAT GAGGATGGGGTGGGGAGGGTAGATTGGAGGCTGTGTAGAATGAGGATGGG GTGGGTGGAGAGGGCACAGATTGGAGGCTGTGTAGAATGAGGATGGGGTA GGTGGGGAGAGTAGATTGGATGCTGTAGAATGAGGATGGGGTGGATGGGA GCGTAGATTGGAGGCTGTGTAGAATGAGGATGGGATGGGTGGAGAGGGCA CAGATTGGAGGCTGTAGAATGAGGATGGGGTGGGTGGGGAGGGTAGATTG GAGACTGTGTAGAATGAGGACAGGACGGGTGGGGAGGGTAGATTGGAGGC TGTGTAGAATGAGGACAGGACGGGTGGGGAGGGTAGATTGGAGGCTGTAG AATGAGGATGGGGTGGGTGGGGAGGGTAGATTGAAGGCTGTAGAATGAGG ATGGGGTGGATGGGGAGGGTAGATTGGAGGCTGTGTAGAATGAGGATGGG GTGGGTGGGGAGGGTAGATTGGAGGCTGTAGAATGAGGATGGGGTGGGTG G	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding	3/5			chr19	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAC others(522): Show CTGTATACATGTACAGCATGTATACTGTATACATGTACAGCATGTATACT GTATATATGTACAGCATGTATACTGTGTACAGCATGTATACTGTATACAG CATGTATACTGTATACAGCATGTATACTGTATGTATGTATACTGTATGTA TGTATACTGTATGTATGTATACCGTATATATACACAGTATGTATACCGTA TATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATA TATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATATA TACACAGTATGTATACTGCATACAGTATGTATACTGTATACATACTGCAT GCAGTATGTATACTGTATACATACTGCATGCAGTATGTATACTGTATACA TACTGCATGCAGTATGTATACTGTATACATACTGCATGCAGTATGTATAC TGTATATATACACTATACAGTATGTATACTGTATATATACACTATACAGT ATGTATACTGTATATATACACAATACAGTA	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0275 a0001c0001t0006g0275	1	362	0.0028	529	c.-75 others(548): Show c.-75+17711_-75+17712insTACTGTATTGTGTATATATACAGTAT ACATACTGTATAGTGTATATATACAGTATACATACTGTATAGTGTATATA TACAGTATACATACTGCATGCAGTATGTATACAGTATACATACTGCATGC AGTATGTATACAGTATACATACTGCATGCAGTATGTATACAGTATACATA CTGCATGCAGTATGTATACAGTATACATACTGTATGCAGTATACATACTG TGTATATATACGGTATACATACTGTGTATATATACGGTATACATACTGTG TATATATACGGTATACATACTGTGTATATATACGGTATACATACTGTGTA TATATACGGTATACATACTGTGTATATATACGGTATACATACATACAGTA TACATACATACAGTATACATACATACAGTATACATGCTGTATACAGTATA CATGCTGTATACAGTATACATGCTGTACACAGTATACATGCTGTACATAT ATACAGTATACATGCTGTACATGTATACAGTATACATGCTGTACATGTAT ACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NME4_chr16_392199_405754	397726	C C	CGGGGGGT others(522): Show CGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGT GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGGGGTGAGGGAGTCGGGGGGTGGG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0195 a0001c0002t0001g0195	1	356	0.0028	529	c.91+ others(542): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGGGTGGGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NT5DC3_chr12_103767310_103846234	103768606	G G	GGAGGGAG others(522): Show GGAGGGAGGGGGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTAGGGG GAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGAGAGGGACAGGGAC AGGGAGAGGGAGAGAGAGGGAGGGAGAGGGAGAGGGAGAGGGACAGGGAG AGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGGAGAGGG AGGGGAGGGGGAGAGGGGGGAGAGAGAGGGAGGGGGCGGGAGGGGAGGGA GGGGGAGGGAGAGGGACAGGGAGAGGGAGGGAGAGGGAGAGAGGGAGGGA GAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGAGGGAGGGAGA GGGAGGGAGGGGGGAGGGAGAGAGATGGGGGAGGGGGAGGGAGAGGGATG GGGGAGGGAGAGGGATGGGGGAGGGAGAGGGACAGGGGGAGGGAGAAGGA GAGGGAGAGGGGGAGGGAGAGGGAGAGAGAGGGAGAGGGAGAGAGAGGGA AAGGGAGTGAGAGAGAGAGGGAGAGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00609.hp1 HG00735.hp2 others(43): Show HG00438.hp2 HG00609.hp1 HG00735.hp2 HG01123.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01517.hp2 HG01928.hp2 HG01934.hp2 HG01952.hp1 HG01993.hp1 HG02015.hp2 HG02056.hp1 HG02132.hp1 HG02155.hp2 HG02273.hp2 HG03017.hp1 HG03239.hp1 NA18747.hp1 NA18941.hp2 NA18945.hp1 NA18952.hp1 NA18954.hp2 NA18955.hp1 NA18960.hp1 NA18966.hp1 NA18971.hp2 NA18974.hp1 NA18989.hp2 NA18995.hp1 NA18998.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19011.hp1 NA19011.hp2 NA19057.hp2 NA19062.hp2 NA19068.hp2 NA19078.hp1 NA19084.hp1 NA19085.hp2 NA19086.hp2 NA19091.hp2 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0001c0004 a0003c0010 a0001c0003 a0001c0004 a0003c0010	a0001c0003t0004 a0001c0003t0008 a0001c0003t0010 others(9): Show a0001c0003t0004 a0001c0003t0008 a0001c0003t0010 a0001c0003t0020 a0001c0003t0034 a0001c0003t0065 a0001c0003t0066 a0001c0003t0069 a0001c0003t0070 a0001c0003t0072 a0001c0004t0008 a0003c0010t0004	a0001c0003t0004g0007 a0001c0003t0004g0041 a0001c0003t0004g0055 others(42): Show a0001c0003t0004g0007 a0001c0003t0004g0041 a0001c0003t0004g0055 a0001c0003t0004g0064 a0001c0003t0004g0065 a0001c0003t0004g0101 a0001c0003t0004g0102 a0001c0003t0004g0107 a0001c0003t0004g0127 a0001c0003t0004g0128 a0001c0003t0004g0133 a0001c0003t0004g0140 a0001c0003t0004g0147 a0001c0003t0004g0172 a0001c0003t0004g0281 a0001c0003t0004g0282 a0001c0003t0004g0285 a0001c0003t0004g0363 a0001c0003t0008g0067 a0001c0003t0008g0357 a0001c0003t0008g0359 a0001c0003t0008g0360 a0001c0003t0008g0361 a0001c0003t0008g0364 a0001c0003t0008g0366 a0001c0003t0008g0367 a0001c0003t0008g0372 a0001c0003t0010g0129 a0001c0003t0010g0130 a0001c0003t0010g0131 a0001c0003t0010g0132 a0001c0003t0010g0134 a0001c0003t0010g0136 a0001c0003t0010g0143 a0001c0003t0010g0145 a0001c0003t0020g0123 a0001c0003t0020g0124 a0001c0003t0034g0139 a0001c0003t0065g0126 a0001c0003t0066g0137 a0001c0003t0069g0135 a0001c0003t0070g0066 a0001c0003t0072g0362 a0001c0004t0008g0039 a0003c0010t0004g0280	46	386	0.1192	529	c.92 others(540): Show c.9222_*9223insTCCCTCTCTCCCTCTCTCTCTCACTCCCTTTCCC TCTCTCTCCCTCTCCCTCTCTCTCCCTCTCCCTCCCCCTCTCCCTCTCCT TCTCCCTCCCCCTGTCCCTCTCCCTCCCCCATCCCTCTCCCTCCCCCATC CCTCTCCCTCCCCCTCCCCCATCTCTCTCCCTCCCCCCTCCCTCCCTCTC CCTCCCTCTCCCTCTCCCTCTCCCTCCCTCTCCCTCCCTCTCCCTCTCCC TCCCTCTCTCCCTCTCCCTCCCTCTCCCTGTCCCTCTCCCTCCCCCTCCC TCCCCTCCCGCCCCCTCCCTCTCTCTCCCCCCTCTCCCCCTCCCCTCCCT CTCCCCCCTCCCCTCCCTCTCCCTCTCTCCCTCCCTCTCTCTCCCTCTCC CTGTCCCTCTCCCTCTCCCTCTCCCTCCCTCTCTCTCCCTCTCCCTGTCC CTGTCCCTCTCCTCCCCCCTCCCCCTCCCTCTCTGTCCCCCCTCTCCCCC TACCCCTCCCTCTCCCTCCCTCCCTGTCCCCCCTCCCCCTCCCTC	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding		3703		chr12	TogoVar
NXN_chr17_794310_984776	948876	T T	TCCCCCCT others(522): Show TCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCT CCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCC CTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCT CTCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCTGCC TCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCC CCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCGGCCTCCTCC TCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCC TCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCC CCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCC TCTCCCCGCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGC CTCCTCCTCTCCCCCCTGCCTCCTCCTCTC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	242	0.0041	529	c.360 others(548): Show c.360+30442_360+30443insGAGAGGAGGAGGCAGGGGGGAGAGGA GGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGCGGG GAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGG CAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGG AGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGG GAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGG CCGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGAGAGG AGGAGGCAGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGG GGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAG GCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAG GAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGG GGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OTOF_chr2_26452203_26483124	26476536	C C	CCCTTCCC others(522): Show CCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCACCCC TTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTT CCCCCACCTCCTTCCCCACCCCTTCCCCCACCCCTTCCCCCACCTCCTTC CCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCCCTTCCCC CACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCA CCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACC TCCTTCCCCCACCCCTTCCCCCACCCCTTCCCCCACCCCTTCCCCCACCT CCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTC CTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCT TCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCCCTTCC CCCACCTCCTTCCCCACCCCTTCCCCCACG	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0081 a0001c0003t0001g0081	1	330	0.0030	529	c.436 others(544): Show c.436-220_436-219insCGTGGGGGAAGGGGTGGGGAAGGAGGTGGG GGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGA AGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAG GAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGGAAGG AGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGGAAGGA GGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGG TGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTG GGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGG GAAGGAGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGG AAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAA GGGGTGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGGAAGG	OTOF	ENSG00000115155.19	transcript	ENST00000339598.8	protein_coding	5/28			chr2	TogoVar
PCDH11Y_chrY_4995296_5747224	5525239	A A	AGGGGGGA others(522): Show AGGGGGGAGGAGGCGGAGGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGG GGGAGGAGGAGGGGGAGGGGAGGAGGAGGGGGCAGGAGGAGGAGTGGGAG GTGGAGGGGGGTAGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGAGGAGGG GGGAGGAGGAGGGGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGG GAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGCGGAGGGGGAGGAGGAGGG GGAGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGAGGGGG AGGAGGACGGGGAGGAGGAGGGGGGAGGGGGAGGAGGAGGGGGAGGAGGA GGAGTGGGGAGGAGGAGGGGGCAGGAGGAGGAGTGGGAGGTGGAGGGGGG TAGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGAGGGGGCAGGAGGAGGAG TGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGAG GAGGGGGAGGAGGAGGAGTGGGAGGAGGAG	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0072 a0001c0001t0006g0072	1	115	0.0087	529	c.305 others(550): Show c.3052+23989_3052+23990insGAGGAGGCGGAGGGGGGAGGAGGA GGGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAGGAGGG GGCAGGAGGAGGAGTGGGAGGTGGAGGGGGGTAGGAGGAGGAGGGGGAGG AGGGGGGAGGAGGAGGAGGGGGGAGGAGGAGGGGGAGGAGGGGGAGGAGG AGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAG GCGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGACGG GGAGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGGAGGGG GAGGAGGAGGGGGAGGAGGAGGAGTGGGGAGGAGGAGGGGGCAGGAGGAG GAGTGGGAGGTGGAGGGGGGTAGGAGGAGGAGGGGGAGGAGGGGGGAGGA GGAGGGGGCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGG GGAGGAGGGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGTGGGAGGAGGAG GGGGG	PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrY	TogoVar
PCSK6_chr15_101298933_101494707	101312013	C C	CACCCTCA others(522): Show CACCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACACCCTCACAGCCCACCCCATCGT CACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGT CACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGT CACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGT CACCCCTCACAGCCCACCCCATCGTCACACCCTCACAGCCCACCCCATCG TCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCG TCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCG TCACCCCTCACAGCCCACCCCATCGTCACA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0220 a0001c0005t0001g0220	1	336	0.0030	529	c.269 others(548): Show c.2699+1362_2699+1363insTGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGTGTGACGATGGGGTGGGCTGTGAGG GGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGG GGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGG GGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGG GGTGACGATGGGGTGGGCTGTGAGGGTGTGACGATGGGGTGGGCTGTGAG GGGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAG GGGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAG GGGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAG GGT	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PLEKHG4B_chr5_87168_194966	101557	A A	AAAAGCCT others(522): Show AAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCT GGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGC CCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAA AGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCATA TAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTAAATCC ATATAAAGCCCTGGGAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAA TCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGT TAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGA GGTAAATCCATATAAAGCTCTGGAAAAAGCCTGTAGGGGAGAGACTGTTG TGAGGTTAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGAAAGACTGT TGTGAGGTTAATCCATATAAAGCCCTGGAG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0144 a0001c0001t0032g0144	1	210	0.0048	529	c.45+ others(544): Show c.45+9285_45+9286insCCTGTAGGGGAGAGACTGTTGTGAGGTTAA TCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGT TAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGA GGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTG TGAGGTAAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTG TTGTGAGGTAAATCCATATAAAGCCCTGGGAAAAGCCTGTAGGGGAGAGA CTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAG AGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGG GAGAGACTGTTGTGAGGTAAATCCATATAAAGCTCTGGAAAAAGCCTGTA GGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGTCT GTAGGGAAAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAGAAAG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PRKCZ_chr1_2045411_2190395	2106743	C C	CTTCAGCA others(522): Show CTTCAGCAAGCCCCTCTGGTGGGCGAGGACCTCCACGTGTGTCACCAGGC CAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCACACGTGT CACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTC CACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGC GAGGACCTCCATGCGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTC CGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGC AGGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGA CTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTCACCAG GCCAGGTGACTCTTCAGCAAGCCCCTCTGGTGGGCGAGGACCTCCACGTG TGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACC TCCACACGTGTCACCAGGCCAGGTGACTCT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0203 a0001c0002t0001g0203	1	286	0.0035	529	c.335 others(548): Show c.335-28518_335-28517insTCAGCAAGCCCCTCTGGTGGGCGAGG ACCTCCACGTGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGT GGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGC CCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCT TCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCA GGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCA CCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCA CACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGA GGACCTCCATGCGTGTCACCAGGCCAGGTGACTCTTCAGCAAGCCCCTCT GGTGGGCGAGGACCTCCACGTGTGTCACCAGGCCAGGTAACTCTCAGCAA GCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGACT CTT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRPSAP1_chr17_76304478_76358916	76319618	G G	GCCACCAT others(522): Show GCCACCATGCTCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCAC CATGTTTGTCAGGCTGGTCTCGAACTCCTGACCTCGTGATCTGCCTGCCT CGGCCTCCCAAAGTGCTGGAATTATAGGCATGAGCCACCACGCCTGGCCT ATTTCTCGGTCTTTATCCCACAACATACTCAGCTGCTTACAAAAGGACAT TAAATCAAGGTAACTCACAGGTAGTGACGTGTGGTAACTGAGCATGTCCA CCCTGAGCCCAAATCTTGGTTTCTAAATACCATTCTCAGCTGGTCTGATG CTAATGGGTTATCAATACTTATTAATATTAGTGTCACTAAAAAGTTGGCA TACAATCCAGCACTGCTAAATCTGACCGATTTATTTTATTTTTTTTTCTA GACGGAGTCTTGCTCTGTCACCCACGCTGGAATGCAGTGGCACCATCTTG GCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCCATTCTCCTGCCTCAGC CTCCTGAGTAGCTGGGATTACAGGTGCCCA	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0023 a0001c0002t0002g0023	1	366	0.0027	529	c.782 others(546): Show c.782-5728_782-5727insTGGGCACCTGTAATCCCAGCTACTCAGG AGGCTGAGGCAGGAGAATGGCTTGAACCCGGGAGGCGGAGGTTGCAGTGA GCCAAGATGGTGCCACTGCATTCCAGCGTGGGTGACAGAGCAAGACTCCG TCTAGAAAAAAAAATAAAATAAATCGGTCAGATTTAGCAGTGCTGGATTG TATGCCAACTTTTTAGTGACACTAATATTAATAAGTATTGATAACCCATT AGCATCAGACCAGCTGAGAATGGTATTTAGAAACCAAGATTTGGGCTCAG GGTGGACATGCTCAGTTACCACACGTCACTACCTGTGAGTTACCTTGATT TAATGTCCTTTTGTAAGCAGCTGAGTATGTTGTGGGATAAAGACCGAGAA ATAGGCCAGGCGTGGTGGCTCATGCCTATAATTCCAGCACTTTGGGAGGC CGAGGCAGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGACAAACA TGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGAGCATGGTG G	PRPSAP1	ENSG00000161542.17	transcript	ENST00000446526.8	protein_coding	7/9			chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	2831059	C C	CTCCCCTC others(522): Show CTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTCCTTCCCCTCCCCTTCCC TCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTC TCCCCTCCCTCCCCTCCCCTTCCTTCCCCTCCCCTCCTCCCCCCTCCCTC CCCTCTCCTTCCTTCCCCTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTC CCTTCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCTCTCCCCTC CCTCCCCTCCCCTTTTCTCCCTTCCCCTCCCATCCCCTACACTTCCCTCC CCTCCCCTTCCCTACACTTCCGTCCCCTCCCCTTCCCTACACTTCCCTTC CCTCCCCTCCCCTCCCTTTCCCTCCTCTTCCCTCCCCTCCCTTCCCGTCC CCTTCCCTCCCTTCCCCTCCCCCACCCTCCCTTCCCCTCCCTTCTTCTCT CCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTCCCCTCCCT TTCCCTCCCCTCCCCTCCCCTCCCTTCCCA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0069 a0002c0003t0069	a0002c0003t0069g0020 a0002c0003t0069g0020	1	218	0.0046	529	c.80+ others(546): Show c.80+30515_80+30516insCCCCTTCCCTCCCTTTCCCTCCCCTCCT TCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCCT TCCCCTCCCCTCCTCTCCCCTCCCTCCCCTCCCCTTCCTTCCCCTCCCCT CCTCCCCCCTCCCTCCCCTCTCCTTCCTTCCCCTCCCCTCCCCTTCCCTC CCTTTCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTC CCCTCCTCTCCCCTCCCTCCCCTCCCCTTTTCTCCCTTCCCCTCCCATCC CCTACACTTCCCTCCCCTCCCCTTCCCTACACTTCCGTCCCCTCCCCTTC CCTACACTTCCCTTCCCTCCCCTCCCCTCCCTTTCCCTCCTCTTCCCTCC CCTCCCTTCCCGTCCCCTTCCCTCCCTTCCCCTCCCCCACCCTCCCTTCC CCTCCCTTCTTCTCTCCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCC TCCCCTCCCCTCCCTTTCCCTCCCCTCCCCTCCCCTCCCTTCCCATCCCC T	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	2831061	C C	CCCTCCCC others(522): Show CCCTCCCCTTCCTTCCTCTCCCCTCCCCTTCCCTCCCTTTCCCTCCCTCC TTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCT CTCCCCTCCCTCCCCTCCCCTTCCTTCCCCTCCCCTCCCTCCCCCTCCCT CCCCTCTCCTTCCTTCCCCTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCT CCCTTCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCTCTCCCCT CCCTCCCCTCCCCTTTTCTCCCTTCCCCTCCCATCCCCTACACTTCCCTC CCCTCCCCTTCCCTACACTTCCGTCCCCTCCCCTTCCCTACACTTCCTTC CCTCCCCTCCCCTCCCTTTCCCTCCTCTTCCTCCCCTCCCCTTCCCGTCC CCTTCCCTCCCTTCCCCTCCCCCCACCCTCCCTTCCCCTCCCTTCTTCTC TCCCCCTCCCCTCCCCTTCCCTCCCTTCCCTCCCCTCCCCTCCCCTCCCT TTCCCTCCCCTCCCTCCCCTCCCTTCCCAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0086 a0001c0007t0086	a0001c0007t0086g0012 a0001c0007t0086g0012	1	218	0.0046	529	c.80+ others(546): Show c.80+30513_80+30514insTCCCCTTCCTTCCTCTCCCCTCCCCTTC CCTCCCTTTCCCTCCCTCCTTCCCCTCCCCTTCCCTCCCTTCCCCTCCCC TCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCTCCCCTTCCTTCCCCT CCCCTCCCTCCCCCTCCCTCCCCTCTCCTTCCTTCCCCTCCCCTCCCCTT CCCTCCCTTTCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCTTC CCCTCCCCTCCTCTCCCCTCCCTCCCCTCCCCTTTTCTCCCTTCCCCTCC CATCCCCTACACTTCCCTCCCCTCCCCTTCCCTACACTTCCGTCCCCTCC CCTTCCCTACACTTCCTTCCCTCCCCTCCCCTCCCTTTCCCTCCTCTTCC TCCCCTCCCCTTCCCGTCCCCTTCCCTCCCTTCCCCTCCCCCCACCCTCC CTTCCCCTCCCTTCTTCTCTCCCCCTCCCCTCCCCTTCCCTCCCTTCCCT CCCCTCCCCTCCCCTCCCTTTCCCTCCCCTCCCTCCCCTCCCTTCCCATC C	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80355637	G G	GGGAAGAA others(522): Show GGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACGGGGGAAGAAGCGGG GTGAATGGGAATGGGGGCTTACAGAGGAAGAAGCGACGAAGAAGTGGGGT GACCGGGAATGGGGGCTCACAGGGGAAGAAGTGGGGTGAACAGGATTGGG GGCTTATGGAGGAAGAAGCGGGGTGAACGGGAATGGGGGCTTACAGGGGG AAGAAGCGGGGTGGACGGGAATGGGGGCTTACGGAGGAAGAAGCGGGGTG GACGGGAATGGGGGCTTACAGGGGGAAGAAGCGGGGTGGACGGGAATGGG GGCTTACAGGGGGAAGAAGCGGGGTGGACGGGAATGGGGGCTTACGGAGG AAGAAGCGGGGTGACCGGGAATGGGAGCTTACAGGGGAAGAAGCGGGGTG AATGGGAATGGGGGCTCACGGAGGAAGAAGCGGGGTGGATGGGAATCGGG GCTCACGGAGGAAGAGGGGTGACCGGGAATGGGGGCTCACAGAGGAAGAA GCGGGGTGACCGGGATTGGGGGCTTATGGA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0104 a0104	a0104c0119 a0104c0119	a0104c0119t0038 a0104c0119t0038	a0104c0119t0038g0247 a0104c0119t0038g0247	1	292	0.0034	529	c.108 others(550): Show c.10862+1076_10862+1077insAATGGGAATGGGGGCTTACGGGGG AAGAAGCGGGGTGAATGGGAATGGGGGCTTACAGAGGAAGAAGCGACGAA GAAGTGGGGTGACCGGGAATGGGGGCTCACAGGGGAAGAAGTGGGGTGAA CAGGATTGGGGGCTTATGGAGGAAGAAGCGGGGTGAACGGGAATGGGGGC TTACAGGGGGAAGAAGCGGGGTGGACGGGAATGGGGGCTTACGGAGGAAG AAGCGGGGTGGACGGGAATGGGGGCTTACAGGGGGAAGAAGCGGGGTGGA CGGGAATGGGGGCTTACAGGGGGAAGAAGCGGGGTGGACGGGAATGGGGG CTTACGGAGGAAGAAGCGGGGTGACCGGGAATGGGAGCTTACAGGGGAAG AAGCGGGGTGAATGGGAATGGGGGCTCACGGAGGAAGAAGCGGGGTGGAT GGGAATCGGGGCTCACGGAGGAAGAGGGGTGACCGGGAATGGGGGCTCAC AGAGGAAGAAGCGGGGTGACCGGGATTGGGGGCTTATGGAGGAAGAAGCG GGGTG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RTN1_chr14_59590983_59875776	59750591	T T	TATATCTA others(522): Show TATATCTATAATATATATATTATATCTATAATATATAATATATCTATAAT ATATATATTATATCTATAATATATAATATATCTATAATATATATATTATA TCTATAATATATATCTATAATATATATATTATATCTATAATATATAATAT ATCTATAATATATATATTATATCTATAATATATAATATATCTATAATATA TATATTATATCTATAATATATAATATATCTATAATATATATATTATATCT ATAATATATAATATATCTATAATATATAATATATCTATAATATATATATT ATATATATAATATATAATATATTATATATATAATATATAATATATTATAT ATATAATATATAATATATTATATCTATAATATATTATATGTAATATATAT ATGTTATATCTATAATATATATTATATCTATAATATATAATATATTATAT CTATAATATATAATATATTATATCTATAATATATAATATATTATATCTAT AAATATAATATATTATATCTATAATATATA	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	172	0.0058	529	c.242 others(546): Show c.242-4111_242-4110insTATATATTATAGATATAATATATTATAT TTATAGATATAATATATTATATATTATAGATATAATATATTATATATTAT AGATATAATATATTATATATTATAGATATAATATATATTATAGATATAAC ATATATATATTACATATAATATATTATAGATATAATATATTATATATTAT ATATATAATATATTATATATTATATATATAATATATTATATATTATATAT ATAATATATATATTATAGATATATTATATATTATAGATATATTATATATT ATAGATATAATATATATATTATAGATATATTATATATTATAGATATAATA TATATATTATAGATATATTATATATTATAGATATAATATATATATTATAG ATATATTATATATTATAGATATAATATATATATTATAGATATATATTATA GATATAATATATATATTATAGATATATTATATATTATAGATATAATATAT ATATTATAGATATATTATATATTATAGATATAATATATATATTATAGATA T	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
SLC37A3_chr7_140328752_140403530	140387779	A A	AAATATAA others(522): Show AAATATAAATATATATATTATATATAAATATAAATATATTATATATATTA TATATAAATATAAATATATTATATATATTATATATAAAATATAAATATAT TATATATATTATATATAATATAAATATATTATATATATTATATATAATAT AAATATATTATATATATTATATATAAATATAAATATATTATATATATTAT ATATAAATATAAATATATTATATATATTATATATAAATATAAATATATTA TATATATTATATATAAATATAAATATATTATATATATTATATATAAATAT AAATATATTATATATATTATATATAAATATAAATATATTATATATATTAT ATATAATATAAATATATTATATATATTATATATAATATAAATATATTTAT ATATTATATATAATATAAATATATTTATATATTATATATAAATATAAATA TATTATATATATTATATATAAAATATAAATATATTATATATATTATATAT AAATATAAATATATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0111 a0002c0002t0001g0111	1	346	0.0029	529	c.-70 others(546): Show c.-70-5184_-70-5183insATATATAATATATATAATATATTTATAT TTATATATAATATATATAATATATTTATATTTTATATATAATATATATAA TATATTTATATTTATATATAATATATAAATATATTTATATTATATATAAT ATATAAATATATTTATATTATATATAATATATATAATATATTTATATTAT ATATAATATATATAATATATTTATATTTATATATAATATATATAATATAT TTATATTTATATATAATATATATAATATATTTATATTTATATATAATATA TATAATATATTTATATTTATATATAATATATATAATATATTTATATTTAT ATATAATATATATAATATATTTATATTTATATATAATATATATAATATAT TTATATTATATATAATATATATAATATATTTATATTATATATAATATATA TAATATATTTATATTTTATATATAATATATATAATATATTTATATTTATA TATAATATATATAATATATTTATATTTATATATAATATATATATTTATAT T	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLC37A3_chr7_140328752_140403530	140387779	A A	AAATATAA others(522): Show AAATATAAATATATTATATATTATATATAAATATAAATATATTATATATA TTATATATAAATATAAATATATTATATATATTATATATAAATATAAATAT ATTATATATATTATATATAAATATAAATATATTATATATATTATATATAA TATAAATATATTATATATATTATATATAATATAAATATATTATATATATT ATATATAAATATAAATATATTATATATATTATATATAAATATAAATATAT TATATATATTATATATAAATATAAATATATTATATATATTATATATAAAT ATAAATATATTATATATATTATATATAAATATAAATATATTATATATATT ATATATAAATATAAATATATTATATATATTATATATAATATAAATATATT TATATATTATATATAATATAAATATATTTATATATTATATATAAATATAA ATATATATATATTATATATAAAATATAAATATATTATATATATTATATAT AAATATAAATATATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0104 a0002c0002t0005g0104	1	346	0.0029	529	c.-70 others(546): Show c.-70-5184_-70-5183insATATATAATATATATAATATATTTATAT TTATATATAATATATATAATATATTTATATTTTATATATAATATATATAT ATTTATATTTATATATAATATATAAATATATTTATATTATATATAATATA TAAATATATTTATATTATATATAATATATATAATATATTTATATTTATAT ATAATATATATAATATATTTATATTTATATATAATATATATAATATATTT ATATTTATATATAATATATATAATATATTTATATTTATATATAATATATA TAATATATTTATATTTATATATAATATATATAATATATTTATATTTATAT ATAATATATATAATATATTTATATTATATATAATATATATAATATATTTA TATTATATATAATATATATAATATATTTATATTTATATATAATATATATA ATATATTTATATTTATATATAATATATATAATATATTTATATTTATATAT AATATATATAATATATTTATATTTATATATAATATATAATATATTTATAT T	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(522): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGGGGAGGGGGAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGG AGGGGGAAGGGGAGGGGGAGGTGGGAGGGGGAGGGGGAAGGGGGAGGGGG GAAGCGGGAACGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAG GGGGAGGGGGAGGGGAGGGGGAAGGGGGAGGGGGGAAGCGGGAACGGGGG AGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAAGGGGGAGGGG GAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAG GGGGAGGGGGAGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGGAGGGGGAA GGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGG GGAGGGGGAGGGGGAGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGAT GGGGAGGGGGAGGGGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0186 a0001c0001t0011g0186	1	251	0.0040	529	c.34 others(538): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCCTCCCCATCT CCCCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCC CTCCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCC CTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTC CCCCTTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCG TTCCCGCTTCCCCCCTCCCCCTTCCCCCTCCCCTCCCCCTCCCCCTCCCC CTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCGTTCCCGCTTCCCCCCT CCCCCTTCCCCCTCCCCCTCCCACCTCCCCCTCCCCTTCCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPEF2_chr5_35612863_35819611	35714092	A A	ATATAGTA others(522): Show ATATAGTATTATATATTTTATATATAGTATATTTTATATATAGTATATAT ATTATATATAGTATATATTTTATATATAGTATATATATTATATATAGTAT ATATTTTATATATAGTATATATATTATATATATATTTTATATATAGTATA TATATTATATAGTATATATTTTATATATAGTATATATATTATATATACTA TATATTTTATATATAGTATATATATTATATATAGTATATATTTTATATAT AGTATATATATTATATATAGTATATATTTTATATATAGTATATATTTTAT ATATAGTATATATTTTATATATAGTATATATATTATATATAGTATATATT TTATATATAGTATATATATTATGTATAGTATATATATTATATATAGTATA TATTTTATGTATAGTATATATATTATGTATAGTATATATTTTATATATAG TATATATATTATGTATAGTATTATATATTTTATATATAGTATATATATTA TGTATAGTATTATATATTTTATATATATGT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp2 NA19030.hp1 NA19030.hp2	a0002 a0003 a0002 a0003	a0002c0001 a0003c0004 a0002c0001 a0003c0004	a0002c0001t0001 a0003c0004t0001 a0002c0001t0001 a0003c0004t0001	a0002c0001t0001g0150 a0003c0004t0001g0135 a0002c0001t0001g0150 a0003c0004t0001g0135	2	268	0.0075	529	c.291 others(548): Show c.2914+1206_2914+1207insTATAGTATTATATATTTTATATATAG TATATTTTATATATAGTATATATATTATATATAGTATATATTTTATATAT AGTATATATATTATATATAGTATATATTTTATATATAGTATATATATTAT ATATATATTTTATATATAGTATATATATTATATAGTATATATTTTATATA TAGTATATATATTATATATACTATATATTTTATATATAGTATATATATTA TATATAGTATATATTTTATATATAGTATATATATTATATATAGTATATAT TTTATATATAGTATATATTTTATATATAGTATATATTTTATATATAGTAT ATATATTATATATAGTATATATTTTATATATAGTATATATATTATGTATA GTATATATATTATATATAGTATATATTTTATGTATAGTATATATATTATG TATAGTATATATTTTATATATAGTATATATATTATGTATAGTATTATATA TTTTATATATAGTATATATATTATGTATAGTATTATATATTTTATATATA TGT	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	20/36			chr5	TogoVar
STAB2_chr12_103582273_103771719	103768606	G G	GGAGGGAG others(522): Show GGAGGGAGGGGGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTAGGGG GAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGAGAGGGACAGGGAC AGGGAGAGGGAGAGAGAGGGAGGGAGAGGGAGAGGGAGAGGGACAGGGAG AGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGGAGAGGG AGGGGAGGGGGAGAGGGGGGAGAGAGAGGGAGGGGGCGGGAGGGGAGGGA GGGGGAGGGAGAGGGACAGGGAGAGGGAGGGAGAGGGAGAGAGGGAGGGA GAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGAGGGAGGGAGA GGGAGGGAGGGGGGAGGGAGAGAGATGGGGGAGGGGGAGGGAGAGGGATG GGGGAGGGAGAGGGATGGGGGAGGGAGAGGGACAGGGGGAGGGAGAAGGA GAGGGAGAGGGGGAGGGAGAGGGAGAGAGAGGGAGAGGGAGAGAGAGGGA AAGGGAGTGAGAGAGAGAGGGAGAGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00609.hp2 HG01123.hp2 others(17): Show HG00438.hp2 HG00609.hp2 HG01123.hp2 HG01361.hp2 HG01433.hp2 HG01517.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp2 HG02015.hp2 HG04184.hp2 NA18747.hp2 NA18941.hp2 NA18960.hp1 NA18966.hp1 NA18989.hp2 NA18997.hp1 NA19000.hp1 NA19068.hp1 NA19085.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0006 a0020 a0039	a0001c0001 a0001c0003 a0001c0006 others(12): Show a0001c0001 a0001c0003 a0001c0006 a0001c0014 a0001c0015 a0001c0044 a0001c0107 a0001c0112 a0002c0007 a0002c0011 a0003c0013 a0006c0117 a0006c0118 a0020c0135 a0039c0067	a0001c0001t0001 a0001c0003t0001 a0001c0006t0001 others(12): Show a0001c0001t0001 a0001c0003t0001 a0001c0006t0001 a0001c0014t0001 a0001c0015t0001 a0001c0044t0001 a0001c0107t0001 a0001c0112t0001 a0002c0007t0001 a0002c0011t0001 a0003c0013t0001 a0006c0117t0001 a0006c0118t0001 a0020c0135t0001 a0039c0067t0001	a0001c0001t0001g0025 a0001c0001t0001g0095 a0001c0001t0001g0171 others(17): Show a0001c0001t0001g0025 a0001c0001t0001g0095 a0001c0001t0001g0171 a0001c0001t0001g0175 a0001c0003t0001g0201 a0001c0006t0001g0215 a0001c0014t0001g0196 a0001c0015t0001g0120 a0001c0015t0001g0230 a0001c0044t0001g0121 a0001c0107t0001g0197 a0001c0112t0001g0202 a0002c0007t0001g0173 a0002c0011t0001g0203 a0003c0013t0001g0122 a0003c0013t0001g0132 a0006c0117t0001g0079 a0006c0118t0001g0151 a0020c0135t0001g0017 a0039c0067t0001g0204	20	256	0.0781	529	c.22 others(540): Show c.2270_*2271insGAGGGAGGGGGAGGGGGGACAGGGAGGGAGGGAG AGGGAGGGGTAGGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAG GAGAGGGACAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGAGAGG GAGAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGG GGAGGGGGGAGAGGGAGGGGAGGGGGAGAGGGGGGAGAGAGAGGGAGGGG GCGGGAGGGGAGGGAGGGGGAGGGAGAGGGACAGGGAGAGGGAGGGAGAG GGAGAGAGGGAGGGAGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAG GGAGAGGGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGAGATGGGGGAGGG GGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGACAG GGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGAGAGAGAGGGAG AGGGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAGAGAGGGA	STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding		1888		chr12	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(522): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTGGGAGCGG GGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGGGGTGGGAGAACGG GGTGGGAGAGCGGGGTGGGAGAGCAGGGTGGGAGGGGTGGGAGAACGGGG TGGGGGTGGGAGGGGGTGGGAGAACGGGGTGGGAGCGAGGTGGGAGAACG GGGTGAGAGCGGGGTGGGAGAGCGGGGTGGGGGTGAGAGCGGGGTGGGGG AACGGGGTGGGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAA CGGGGTGGGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAACG GGGTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGG GTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGT GGGAGCGGGGTGGGAGCGGGGTGGGAGAAC	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp2 NA19002.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0254 a0001c0002t0001g0147 a0001c0001t0002g0254 a0001c0002t0001g0147	2	364	0.0055	529	c.157 others(548): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGC TCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTC CCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCC ACCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCCCAC CCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCCCACCC CGTTCCCCCACCCCGCTCTCACCCCCACCCCGCTCTCCCACCCCGCTCTC ACCCCGTTCTCCCACCTCGCTCCCACCCCGTTCTCCCACCCCCTCCCACC CCCACCCCGTTCTCCCACCCCTCCCACCCTGCTCTCCCACCCCGCTCTCC CACCCCGTTCTCCCACCCCGCTGTCCCACCCCGCTCTCACCCCGTTCTCC CACCCCGCTCCCACCCCCACCCCGTTCTCCCACCCCGTTCTCCCACCCCG CTCCCACCCCCACCCCGTTCTCCCACCCCGTTCTCCCACCCCGCTCCCAC CCC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
THNSL2_chr2_88165346_88191627	88181113	T T	TCTCTCTC others(522): Show TCTCTCTCCTCTCTCTCTCCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCT CTCTCTCTCCTCTCTCTCTCCTCTCTCCTCTCTCTCCTCTCTCCTCTCTC TCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCT CTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTTCTCTCTCTCCTCTCTC TCTCCTCTCTCTCTCCTCTCTCTTCTCTCTCTCCTCTCTCTCTCCTCTCT CTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTC TCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTCTCCT CTCTCTCTCCTCTCTCTTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCC TCTCTCTTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTC CTCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCT CCTCTCTCTCTCCTCTCTCCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0020 a0002c0002t0001g0020	1	54	0.0185	529	c.803 others(546): Show c.803-1579_803-1578insCTCTCTCTCTCCTCTCTCCTCTCTCTCT CCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCCTCTCTCTC CTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCC TCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTTCT CTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTTCTCTCTCTCCTC TCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTCCT CTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCT CCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTTCTCTCTCTCCTCTCTCTC TCCTCTCTCTCTCCTCTCTCTTCTCTCTCTCCTCTCTCTCTCCTCTCTCT CTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTC TCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCCTCTCTCTCTCCTCTCT C	THNSL2	ENSG00000144115.18	transcript	ENST00000674334.2	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
TMEM202_chr15_72393305_72413367	72396769	T T	TGGGGGGT others(522): Show TGGGGGGTCAGCCCCCCACCCGGCCAGCCACCCCGTCCGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGAGTCAGCCCCCCGCCCGG CCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCGCCCGG CCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCTGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGG AGGTGGGGGAGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGTGA GGGGCGCCTCTGCCTGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGAGTCAGCCCCCCGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	396	0.0025	529	c.-15 others(540): Show c.-1558_-1557insGGGGGGTCAGCCCCCCACCCGGCCAGCCACCCCG TCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGAGT CAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCT GCCTGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCCATCCGGGAGGGAGGTGGGGGAGTCAGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCC CCGTCCGGGAGGTGAGGGGCGCCTCTGCCTGGCCGCCCCTACTGGGAAGT GAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGG AGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG	TMEM202	ENSG00000187806.9	transcript	ENST00000341689.4	protein_coding		1535		chr15	TogoVar
TMEM202_chr15_72393305_72413367	72396769	T T	TGGGGGGT others(522): Show TGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGAGTCAGCCCCCCCGCCCG GCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCTGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGG AGGTGGGGGAGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGTCAGCCCCCCACCCGGCCAGCTGCCCCGTCCGGGAGGTGA GGGGCGCCTCTGCCTGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGAGTCAGCCCCCCGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	396	0.0025	529	c.-15 others(540): Show c.-1558_-1557insGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCG TCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGAGT CAGCCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCT GCCTGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCCATCCGGGAGGGAGGTGGGGGAGTCAGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCTGCC CCGTCCGGGAGGTGAGGGGCGCCTCTGCCTGGCCGCCCCTACTGGGAAGT GAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGG AGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG	TMEM202	ENSG00000187806.9	transcript	ENST00000341689.4	protein_coding		1535		chr15	TogoVar
TMEM202_chr15_72393305_72413367	72396769	T T	TGGGGGGT others(522): Show TGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGAGTCAGCCCCCCGCCCGG CCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCCGG CCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCTGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGG AGGTGGGGGAGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGTGA GGGGCGCCTCTGCCTGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGAGTCAGCCCCCCGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	396	0.0025	529	c.-15 others(540): Show c.-1558_-1557insGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCG TCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGAGT CAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCT GCCTGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCCATCCGGGAGGGAGGTGGGGGAGTCAGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCC CCGTCCGGGAGGTGAGGGGCGCCTCTGCCTGGCCGCCCCTACTGGGAAGT GAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGG AGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG	TMEM202	ENSG00000187806.9	transcript	ENST00000341689.4	protein_coding		1535		chr15	TogoVar
TMEM202_chr15_72393305_72413367	72396769	T T	TGGGGGGT others(522): Show TGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGAGTCAGCCCCCCGCCCGG CCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCTGGCCGCCCCTAC TGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGA GGTGGGGGAGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGTGA GGGGCGCCTCTGCCTGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGAGTCAGCCCCCCGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	396	0.0025	529	c.-15 others(540): Show c.-1558_-1557insGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCG TCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGAGT CAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTG CCTGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCATCCGGGAGGGAGGTGGGGGAGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCC CCGTCCGGGAGGTGAGGGGCGCCTCTGCCTGGCCGCCCCTACTGGGAAGT GAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGG AGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG	TMEM202	ENSG00000187806.9	transcript	ENST00000341689.4	protein_coding		1535		chr15	TogoVar
TMEM202_chr15_72393305_72413367	72396769	T T	TGGGGGGT others(522): Show TGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGAGTCAGCCCCCCGCCCGG CCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCTGGCTGCCCCTAC TGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGA GGTGGGGGAGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGTGAG GGGCGCCTCTGCCTGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC CGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGAGTCAGCCCCCCCGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	396	0.0025	529	c.-15 others(540): Show c.-1558_-1557insGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCG TCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGAGT CAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTG CCTGGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCATCCGGGAGGGAGGTGGGGGAGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCC CGTCCGGGAGGTGAGGGGCGCCTCTGCCTGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGA GTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG	TMEM202	ENSG00000187806.9	transcript	ENST00000341689.4	protein_coding		1535		chr15	TogoVar
TMEM202_chr15_72393305_72413367	72396779	G G	GCCCCCCA others(522): Show GCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCTGGGAGGGAGGTGGGGGAGTCAGCCCCCCGCCCGGCCAGCCGCCC CATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCC GTCTGGGAGGTGAGGGGCGCCTCTGCCTGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGAG TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCT GCCTGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCCATCCGGGAGGGAGGTGGGGGAGTCAGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	396	0.0025	529	c.-15 others(540): Show c.-1548_-1547insCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGT GAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT GCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGAGTCAGCCCCCCG CCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCTGGCCGCC CCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGG AGGGAGGTGGGGGAGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAG GTGAGGGGCGCCTCTGCCTGGCCGCCCCTACTGGGAAGTGAGGAGCCCCT CTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGAGTCAGCCCCC CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGC	TMEM202	ENSG00000187806.9	transcript	ENST00000341689.4	protein_coding		1525		chr15	TogoVar
TOP3A_chr17_18266428_18319994	18298429	T T	TGGGGGGA others(522): Show TGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGAAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC AGCCGGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCTT ACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCACCCCGTCCGGGAGG GAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGA GGTAGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAAGTGA GGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGTCCCTCTGC CCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCC CAGCCAGCCGCTCCATCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCC CGGCCAGCAGCCCCGTCCGGGAGGGAGGTG	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0076 a0001c0002t0004g0076	1	388	0.0026	529	c.990 others(546): Show c.990+1129_990+1130insCACCTCCCTCCCGGACGGGGCTGCTGGC CGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGATGGAGCGGCTGGC TGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCC GGGCAGAGGGACTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACTTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCTA CCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACC TCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAAGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCCGG CTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTTCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGATCCCCC C	TOP3A	ENSG00000177302.16	transcript	ENST00000321105.10	protein_coding	9/18			chr17	TogoVar
TP53AIP1_chr11_128930370_128947871	128930588	C C	CCAGGGTT others(522): Show CCAGGGTTAGGGAGGCCTAGGGTTAGGGAGGCTGGGGTTAGGGAGCCCGG GGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTA GGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGA GGCCGGGGTCAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTG GGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTT AGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGA GGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCA GGGTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGGT TAGGGAGACCAAGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGG GAGGCCAGGGGTTAGGGAGGCCAGGGTTAAGGAGGCCGGGGTTAGGGAGG CCGGGGTTAGGGAGGCTGGGGTTAGGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG03540.hp2 HG02809.hp2 HG03540.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0012 a0005c0005t0012	a0005c0005t0012g0039 a0005c0005t0012g0039	2	466	0.0043	529	c.50 others(540): Show c.5002_*5003insCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTC CCTAACCCCGGCCTCCTTAACCCTGGCCTCCCTAACCCCTGGCCTCCCTA ACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCTTGGTCTCCCTAACCC CCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTACCCTGGC CTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCC TAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACC CCAGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGC CTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTGACCCCGGCCTCCC TAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAAC CCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGG GCTCCCTAACCCCAGCCTCCCTAACCCTAGGCCTCCCTAACCCTG	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4781		chr11	TogoVar
TRIM2_chr4_153199443_153344317	153222058	A A	AAGGAAGG others(522): Show AAGGAAGGAGAGAGGGAGCGAGGGAGGAAGGAAGGAAGGAAGGAGGAAGG AAGGAAAGAAAGCAAGGAAGGGAGGGAGGAAGGAAGGGAAGGAGGAAGGA AGGAGGGAGGGAGGGAGGAAGGAAGGAGGAAGGAAGGAGGGAGGGAGGGA GGAAGGAAGGAAAGAGGAAGGAAGGAGGGAGGGAGGGAGGGAGGAAGGAG GAAGGAAGGGAGGGAGGGAGGGAGGAAGGAGGAAGGAAGGAGGGAGGGAG GGAGGGAGGAAGGAGGAAGGAAGGAGGGAGGGAGGGAGGGAGGAAGGAGG AAGGAAGGAGGGAGGGAGGGAGGGAGGAAGGAGGAAGGAAGGAGGGAGGG AGGGAGGGAGGAAGGAGGAAGGAAGGAGGGAGGGAGGGAGGGAGGAAGGA AGGGAAGGAGGAAGGAAGGAGGGAGGGAGGAAGGAAGGAAGGAGGAAGGA AGGAAGGAGGAAGGAAGGAGGGAGGGAGCGAGAGAGGAAGGAAGGGAGGG AGAAAAGAAGAGCGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0169 a0001c0005t0003g0169	1	268	0.0037	529	c.30+ others(546): Show c.30+17506_30+17507insGAGAGGGAGCGAGGGAGGAAGGAAGGAA GGAAGGAGGAAGGAAGGAAAGAAAGCAAGGAAGGGAGGGAGGAAGGAAGG GAAGGAGGAAGGAAGGAGGGAGGGAGGGAGGAAGGAAGGAGGAAGGAAGG AGGGAGGGAGGGAGGAAGGAAGGAAAGAGGAAGGAAGGAGGGAGGGAGGG AGGGAGGAAGGAGGAAGGAAGGGAGGGAGGGAGGGAGGAAGGAGGAAGGA AGGAGGGAGGGAGGGAGGGAGGAAGGAGGAAGGAAGGAGGGAGGGAGGGA GGGAGGAAGGAGGAAGGAAGGAGGGAGGGAGGGAGGGAGGAAGGAGGAAG GAAGGAGGGAGGGAGGGAGGGAGGAAGGAGGAAGGAAGGAGGGAGGGAGG GAGGGAGGAAGGAAGGGAAGGAGGAAGGAAGGAGGGAGGGAGGAAGGAAG GAAGGAGGAAGGAAGGAAGGAGGAAGGAAGGAGGGAGGGAGCGAGAGAGG AAGGAAGGGAGGGAGAAAAGAAGAGCGAGGGAGGGAGGGAGGGAGGAAGG A	TRIM2	ENSG00000109654.16	transcript	ENST00000338700.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
TSHZ2_chr20_52967358_53500330	53204081	T T	TTATATCA others(522): Show TTATATCATCATATGATGATATACTATTATATCATCATATGATGATATGA TACTATTATATCATCATATGATGATATGATACTATATCATCATATGATGA TATGATACTATATCATCATATGATGATATGATACTATATCATCATATGAT GATATGATACTATATCATCATATGATGATATGATACTATATCATCATATG ATGATATGATACTATATCATCATATGATGATATGATACTATATCATCATA TGATGATATGATACTATATCATCATATGGTGATATACTATATCATCATAT GATGATATGATACTATATCATCATATGATGATATGATACTATATCATCAT ATGATGATATGATACTATATCATCATATGATATGATATACTATATCATCA TATGATGATATGATATACTATATCATCATATGATGATATGATATACTATA TCATCATATGATGATATGATATACTATATCATCATATGATGATATGATAT ACTATATCATCATATGATGATATGATATAC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0056	1	174	0.0058	529	c.41- others(546): Show c.41-49397_41-49396insACTATTATATCATCATATGATGATATGA TACTATTATATCATCATATGATGATATGATACTATATCATCATATGATGA TATGATACTATATCATCATATGATGATATGATACTATATCATCATATGAT GATATGATACTATATCATCATATGATGATATGATACTATATCATCATATG ATGATATGATACTATATCATCATATGATGATATGATACTATATCATCATA TGATGATATGATACTATATCATCATATGGTGATATACTATATCATCATAT GATGATATGATACTATATCATCATATGATGATATGATACTATATCATCAT ATGATGATATGATACTATATCATCATATGATATGATATACTATATCATCA TATGATGATATGATATACTATATCATCATATGATGATATGATATACTATA TCATCATATGATGATATGATATACTATATCATCATATGATGATATGATAT ACTATATCATCATATGATGATATGATATACTATATCATCATATGATGATA T	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(522): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCC GTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTC CCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCC CCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTC CCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCC CCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTC CACCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTC TTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG03579.hp2 NA18906.hp1 HG01928.hp1 HG03579.hp2 NA18906.hp1	a0002 a0021 a0002 a0021	a0002c0003 a0021c0014 a0002c0003 a0021c0014	a0002c0003t0002 a0021c0014t0002 a0002c0003t0002 a0021c0014t0002	a0002c0003t0002g0045 a0002c0003t0002g0115 a0021c0014t0002g0128 a0002c0003t0002g0045 a0002c0003t0002g0115 a0021c0014t0002g0128	3	334	0.0090	529	c.657 others(544): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTC CCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTC CCTCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCC CTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTC CCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTT CCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCC CCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTC CTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCC TTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(522): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCC GTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTC CCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCC CCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTC CCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCC CCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTC CACCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTC TTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0054 a0002c0003t0002g0054	1	334	0.0030	529	c.657 others(544): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCC CTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTC CCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTT CCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCC CCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTC CTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCC TTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TTLL8_chr22_50013575_50063298	50028634	C C	CCTCGTAA others(522): Show CCTCGTAAAGACCCCCATCACACCGTCCTGAAGACCCCACACACACTCGT AAAGACCCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAAGACC CCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCAC ACCATCCTGAAGACCCCCACACACACTCGTAAAGACCCCCATCACACCGT CCTGAAGACCCCACACACACTCGTAAAGACCCCCGTCATACCATCCTGAA GACCCCACACACCCTCGTAAAGACCCCCATCATACCATCCTAAAGACCCC CACACACACTCGTAAAGACCCCATCACACCATCCTGAAGACCCCCACACA CACTCGTAAAGACCCCCATCACACCGTCCTGAAGACCCCACACACACTCG TAAAGACCCCCGTCATACCATCCTAAAGACCCCCACACACACTCGTAAAG ACCCCATCACACCGTCCTGAAGACCCCCACATACCCTCGTAAAGACCCCC ATCACACCATCCTGAAGACCCCCACACACA	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0078 a0003c0003t0001g0078	1	224	0.0045	529	c.225 others(548): Show c.2251+1795_2251+1796insTGTGTGTGGGGGTCTTCAGGATGGTG TGATGGGGGTCTTTACGAGGGTATGTGGGGGTCTTCAGGACGGTGTGATG GGGTCTTTACGAGTGTGTGTGGGGGTCTTTAGGATGGTATGACGGGGGTC TTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGGTCTTTACG AGTGTGTGTGGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGTGTG TGTGGGGGTCTTTAGGATGGTATGATGGGGGTCTTTACGAGGGTGTGTGG GGTCTTCAGGATGGTATGACGGGGGTCTTTACGAGTGTGTGTGGGGTCTT CAGGACGGTGTGATGGGGGTCTTTACGAGTGTGTGTGGGGGTCTTCAGGA TGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTG ATGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGT CTTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGGTCTTTAC GAG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
UBE2J2_chr1_1248912_1278854	1249037	G G	GCGAGGGA others(522): Show GCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCA GCCCTGGGAGGCTGGAGCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACA GGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCT CCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACC GAGGGAGGCTGGGCCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAG CCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAG GCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTC CCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCG AGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCC CTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGC CGGGACACGGGCAGCCCTGGGAGGCTGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0303 a0001c0001t0001g0303	1	324	0.0031	529	c.61 others(540): Show c.6165_*6166insGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCT GTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCT GCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGT CCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGG CCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGT AGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGC CCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGGCCCAGCCTCCCTCGGTC CAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGC CCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTA GGGCGGAGTGGGAGGCCCAGCCTCCCTCGCTCCAGCCTCCCAGGGCTGCC CGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCG	UBE2J2	ENSG00000160087.21	transcript	ENST00000349431.11	protein_coding		4874		chr1	TogoVar
VCX3B_chrX_8459830_8471510	8467213	G G	GGGGAGGG others(522): Show GGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGG TGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGAGGT GTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGAGGAGGGAGGGAGGAA GAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAA GAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGAGGAGGGA GGGAGGAAGAGGTGTGTGGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGG AGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0017 a0017	a0017c0017 a0017c0017	a0017c0017t0007 a0017c0017t0007	a0017c0017t0007g0008 a0017c0017t0007g0008	1	271	0.0037	529	c.83 others(538): Show c.830_*831insGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGG AGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTG TGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGG GGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGAGG AGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGGAGGGGGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGT GTGTGAGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGG AGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGTG TGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		704		chrX	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(522): Show TCCTCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCTC CCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCCT CCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCT CCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCT CCCCCTCTCCTCTCCCCCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCCT CTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCC CCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCC CCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCC CCCTCCCCTTTCCCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0085 a0001c0001t0013g0085	1	246	0.0041	529	c.53- others(542): Show c.53-442_53-441insCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTC CTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTC TCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCC CCCTCTCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTC TCCCCTCCCCCTCTCCTCTCCCCCTCCCCCTCCTCTCCCCCTCTCCCCCT CCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCC CCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCC CCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCC CCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTCCCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC6_chr16_16144565_16228494	16172047	A A	AGTGGGAT others(523): Show AGTGGGATGGATAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGAT GGATAAATGAATGGGTGGGATGCATAAATGAGTGAGTGGGATGGATAAAT GGGTGGGTGGGATGGATAAATGAGTGGGTGGGATGCATAAATGAGTGAGT GGGATGGATAAATGGGTGGGTGGGATGGATAAATGAGTGGGTGGGATGGA TAAATGAGTGGGTGGGATGCATAAATGAGTGGGTGGGATGCATAAATGAG GTGGGATGGATAAATGAGTGGGTGGGATAGATAAATGAGGGGGTGGGATG GATAAATGAGGGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGATA AATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGAGTG GGTGGGATGGCTAAATGAGTGGGTGGGATGGATGGATAAATGAGTGGGTG GGATGGATAAATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGAT AAATGGGTGGGATGGATGGATAAATGAGTGG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00735.hp1 HG01261.hp1 others(27): Show HG00733.hp2 HG00735.hp1 HG01261.hp1 HG01358.hp1 HG01496.hp2 HG02071.hp2 HG02145.hp2 HG02258.hp2 HG02451.hp2 HG02738.hp1 HG02809.hp2 HG02922.hp1 HG02970.hp2 HG03139.hp2 HG03490.hp2 HG03491.hp2 HG03654.hp1 HG03927.hp2 HG04115.hp1 NA18953.hp2 NA18959.hp2 NA18970.hp2 NA18987.hp1 NA18998.hp1 NA19030.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0008 a0011 others(3): Show a0001 a0008 a0011 a0018 a0027 a0041	a0001c0001 a0001c0004 a0001c0006 others(7): Show a0001c0001 a0001c0004 a0001c0006 a0001c0033 a0001c0047 a0008c0011 a0011c0016 a0018c0035 a0027c0073 a0041c0080	a0001c0001t0002 a0001c0004t0001 a0001c0004t0002 others(10): Show a0001c0001t0002 a0001c0004t0001 a0001c0004t0002 a0001c0006t0002 a0001c0033t0002 a0001c0047t0002 a0008c0011t0003 a0011c0016t0001 a0011c0016t0006 a0011c0016t0011 a0018c0035t0001 a0027c0073t0001 a0041c0080t0001	a0001c0001t0002g0030 a0001c0001t0002g0087 a0001c0001t0002g0088 others(27): Show a0001c0001t0002g0030 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0215 a0001c0001t0002g0242 a0001c0001t0002g0311 a0001c0001t0002g0322 a0001c0004t0001g0220 a0001c0004t0002g0106 a0001c0004t0002g0133 a0001c0004t0002g0218 a0001c0004t0002g0219 a0001c0006t0002g0246 a0001c0033t0002g0195 a0001c0047t0002g0101 a0008c0011t0003g0058 a0008c0011t0003g0059 a0008c0011t0003g0060 a0011c0016t0001g0275 a0011c0016t0006g0271 a0011c0016t0006g0280 a0011c0016t0011g0301 a0018c0035t0001g0077 a0018c0035t0001g0078 a0027c0073t0001g0016 a0041c0080t0001g0090	30	357	0.0840	530	c.278 others(549): Show c.2787+1236_2787+1237insCCACTCATTTATCCATCCATCCCACC CATTTATCCATCCCACCCACCCATTTATCCATCCCACCCACTCATTTATC CATCCCACCCACTCATTTATCCATCCATCCCACCCACTCATTTAGCCATC CCACCCACTCATTTAGCCATCCCACCCACCCATTTATCCATCCCACCCAC TCATTTATCCATCCCACCCACTCATTTATCCATCCATCCCACCCCCTCAT TTATCCATCCCACCCCCTCATTTATCTATCCCACCCACTCATTTATCCAT CCCACCTCATTTATGCATCCCACCCACTCATTTATGCATCCCACCCACTC ATTTATCCATCCCACCCACTCATTTATCCATCCCACCCACCCATTTATCC ATCCCACTCACTCATTTATGCATCCCACCCACTCATTTATCCATCCCACC CACCCATTTATCCATCCCACTCACTCATTTATGCATCCCACCCATTCATT TATCCATCCCACCCACTCATTTAGCCATCCCACCCACTCATTTATCCATC CCAC	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ABCC6_chr16_16144565_16228494	16172047	A A	AGTGGGAT others(523): Show AGTGGGATGGATAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGAT GGATAAATGAATGGGTGGGATGCATAAATGAGTGAGTGGGATGGATAAAT GGGTGGGTGGGATGGATAAATGAGTGGGTGGGATGCATAAATGAGTGAGT GGGATGGATAAATGGGTGGGTGGGATGGATAAATGAGTGGGTGGGATGGA TAAATGAGTGGGTGGGATGCATAAATGAGTGGGTGGGATGCATAAATGAG GTGGGATGGATAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGATG GATAAATGAGGGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGATA AATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGAGTG GGTGGGATGGATAAATGAGGGGGTGGGATGGATGGATAAATGAGTGGGTG GGATGGATAAATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGAT AAATGGGTGGGATGGATGGATAAATGAGTGG	intron_variant intron_variant	MODIFIER	HG00642.hp1 NA19240.hp2 HG00642.hp1 NA19240.hp2	a0022 a0028 a0022 a0028	a0022c0075 a0028c0044 a0022c0075 a0028c0044	a0022c0075t0001 a0028c0044t0001 a0022c0075t0001 a0028c0044t0001	a0022c0075t0001g0049 a0028c0044t0001g0302 a0022c0075t0001g0049 a0028c0044t0001g0302	2	357	0.0056	530	c.278 others(549): Show c.2787+1236_2787+1237insCCACTCATTTATCCATCCATCCCACC CATTTATCCATCCCACCCACCCATTTATCCATCCCACCCACTCATTTATC CATCCCACCCACTCATTTATCCATCCATCCCACCCCCTCATTTATCCATC CCACCCACTCATTTAGCCATCCCACCCACCCATTTATCCATCCCACCCAC TCATTTATCCATCCCACCCACTCATTTATCCATCCATCCCACCCCCTCAT TTATCCATCCCACCCACTCATTTATCCATCCCACCCACTCATTTATCCAT CCCACCTCATTTATGCATCCCACCCACTCATTTATGCATCCCACCCACTC ATTTATCCATCCCACCCACTCATTTATCCATCCCACCCACCCATTTATCC ATCCCACTCACTCATTTATGCATCCCACCCACTCATTTATCCATCCCACC CACCCATTTATCCATCCCACTCACTCATTTATGCATCCCACCCATTCATT TATCCATCCCACCCACTCATTTAGCCATCCCACCCACTCATTTATCCATC CCAC	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar

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