Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NAALADL2_chr3_174854334_175815548	175670512	A A	AATTTATA others(463): Show AATTTATATTAAATGTAAATTTAATATATTTATATTAAATTTATATTAAA TGTAAATTTAATATATTTATATTAAATTTATATTAAATGTAAATTTAATA TATTTATATTAAATTTATATTAAATGTAAATTTAATATATTTATATTAAA TTTATATTAAATGTAAATTTAATATATTTATATTAAATTTATATTAAATG TAAATTTAATATATTTATATTAAATTTATATTAAATGTAAATTTAATATA TTTATATTAAATTTATATTAAATGTAAATTTAATATATTTATATTAAATT TACATTAAATGTAAATTTAATATATTTATATTAAATTTATATTAAATGTA AATTTAATATATTTATATTAAATTTATATTAAATGTAAATTTAATATATT TATATTAAATTTATATTAAATGTAAATTTAATATATTTATATTAAATTTA TATTAAATGTAAATTTAATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0028 a0003c0004t0003g0028	1	64	0.0156	470	c.189 others(491): Show c.1896+43150_1896+43151insATATTTATATTAAATTTATATTAA ATGTAAATTTAATATATTTATATTAAATTTATATTAAATGTAAATTTAAT ATATTTATATTAAATTTATATTAAATGTAAATTTAATATATTTATATTAA ATTTATATTAAATGTAAATTTAATATATTTATATTAAATTTATATTAAAT GTAAATTTAATATATTTATATTAAATTTATATTAAATGTAAATTTAATAT ATTTATATTAAATTTATATTAAATGTAAATTTAATATATTTATATTAAAT TTACATTAAATGTAAATTTAATATATTTATATTAAATTTATATTAAATGT AAATTTAATATATTTATATTAAATTTATATTAAATGTAAATTTAATATAT TTATATTAAATTTATATTAAATGTAAATTTAATATATTTATATTAAATTT ATATTAAATGTAAATTTAATATATTTATATTAAATGTAAATTTAAT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NCOR2_chr12_124319415_124572612	124438778	C C	CAGAGAGA others(463): Show CAGAGAGAGAGAGAGAGAGAGAGAGACGGAGACCCAGAGAGACAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACGGAGACCCAGAGA GAGGGAGACAGAGACCCAGAGACAGAGGGAGACAGAGACCCAGAGACAGA GGAAGACAGAGACCCAGAGAGAGGGAGACAGAGACCCAGAGAGAGAGAGA CGGAGACCCAGAGACAGAGGGAGAGAGAGACCCAGAGACAGAGGGAGACA GAGACCCAGAGAGAGAGAGATGGAGACCCTGAGACAGAGGGAGACAGAGA CCCAGAGAGAGAAACAGAGACCCAGAGACAGAGGGAGAGACAGAGACCCA GAGACAGAGACCCAGAGAGACAGGGAAACAGAGAACCAGAGAGAGAGAGA GAGACAGAGACCCAGAGAGACAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GACAGAGACCCAGAGAGACAG	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0005 a0001c0035t0005	a0001c0035t0005g0199 a0001c0035t0005g0199	1	234	0.0043	470	c.816 others(485): Show c.816-783_816-782insCTGTCTCTCTGGGTCTCTGTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTGTCTCTCTGGGTCTCTGTCTCTCTCTCTCT CTCTGGTTCTCTGTTTCCCTGTCTCTCTGGGTCTCTGTCTCTGGGTCTCT GTCTCTCCCTCTGTCTCTGGGTCTCTGTTTCTCTCTCTGGGTCTCTGTCT CCCTCTGTCTCAGGGTCTCCATCTCTCTCTCTCTGGGTCTCTGTCTCCCT CTGTCTCTGGGTCTCTCTCTCCCTCTGTCTCTGGGTCTCCGTCTCTCTCT CTCTGGGTCTCTGTCTCCCTCTCTCTGGGTCTCTGTCTTCCTCTGTCTCT GGGTCTCTGTCTCCCTCTGTCTCTGGGTCTCTGTCTCCCTCTCTCTGGGT CTCCGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTGT CTCTCTGGGTCTCCGTCTCTCTCTCTCTCTCTCTCTCTCT	NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding	9/48			chr12	TogoVar
NCOR2_chr12_124319415_124572612	124438780	G G	GAGAGAGA others(463): Show GAGAGAGAGAGAGAGAGAGAGAGACGGAGACCCAGAGAGACAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACGGAGACC CAGAGAGAGGGAGACAGAGACCCAGAGACAGAGGGAGACAGAGACCCAGA GACAGAGGAAGACAGAGACCCAGAGAGAGGGAGACAGAGACCCAGAGAGA GAGAGACGGAGACCCAGAGACAGAGGGAGAGAGAGACCCAGAGACAGAGG GAGACAGAGACCCAGAGAGAGAGAGATGGAGACCCTGAGACAGAGGGAGA CAGAGACCCAGAGAGAGAAACAGAGACCCAGAGACAGAGGGAGAGACAGA GACCCAGAGACAGAGACCCAGAGAGACAGGGAAACAGAGAACCAGAGAGA GAGAGACAGAGACCCAGAGAGACAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGACAGAGACCCAGAGAGAC	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0011 a0011	a0011c0137 a0011c0137	a0011c0137t0007 a0011c0137t0007	a0011c0137t0007g0155 a0011c0137t0007g0155	1	234	0.0043	470	c.816 others(485): Show c.816-785_816-784insGTCTCTCTGGGTCTCTGTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTGTCTCTCTGGGTCTCTGTCTCTCTCTCTCTGG TTCTCTGTTTCCCTGTCTCTCTGGGTCTCTGTCTCTGGGTCTCTGTCTCT CCCTCTGTCTCTGGGTCTCTGTTTCTCTCTCTGGGTCTCTGTCTCCCTCT GTCTCAGGGTCTCCATCTCTCTCTCTCTGGGTCTCTGTCTCCCTCTGTCT CTGGGTCTCTCTCTCCCTCTGTCTCTGGGTCTCCGTCTCTCTCTCTCTGG GTCTCTGTCTCCCTCTCTCTGGGTCTCTGTCTTCCTCTGTCTCTGGGTCT CTGTCTCCCTCTGTCTCTGGGTCTCTGTCTCCCTCTCTCTGGGTCTCCGT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT GTCTCTCTGGGTCTCCGTCTCTCTCTCTCTCTCTCTCTCT	NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding	9/48			chr12	TogoVar
NCOR2_chr12_124319415_124572612	124438780	G G	GAGAGAGA others(463): Show GAGAGAGAGAGAGAGAGAGAGAGACGGAGACCCAGAGAGACAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACGGAGACC CAGAGAGAGGGAGACAGAGACCCAGAGACAGAGGGAGACAGAGACCCAGA GACAGAGGAAGACAGAGACCCAGAGAGAGGGAGACAGAGACCCAGAGAGA GAGAGACGGAGACCCAGAGACAGAGGGAGAGAGAGACCCAGAGACAGAGG GAGACAGAGACCCAGAGAGAGAGAGATGGAGACCCTGAGACAGAGGGAGA CAGAGACCCAGAGAGAGAAACAGAGACCCAGAGACAGAGGGAGAGACAGA GACCCAGAGATAGAGACCCAGAGAGACAGGGAAACAGAGAACCAGAGAGA GAGAGACAGAGACCCAGAGAGACAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGACAGAGACCCAGAGAGAC	intron_variant intron_variant	MODIFIER	HG01168.hp2 NA20752.hp2 HG01168.hp2 NA20752.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0002 a0003c0010t0081 a0003c0010t0002 a0003c0010t0081	a0003c0010t0002g0090 a0003c0010t0081g0234 a0003c0010t0002g0090 a0003c0010t0081g0234	2	234	0.0086	470	c.816 others(485): Show c.816-785_816-784insGTCTCTCTGGGTCTCTGTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTGTCTCTCTGGGTCTCTGTCTCTCTCTCTCTGG TTCTCTGTTTCCCTGTCTCTCTGGGTCTCTATCTCTGGGTCTCTGTCTCT CCCTCTGTCTCTGGGTCTCTGTTTCTCTCTCTGGGTCTCTGTCTCCCTCT GTCTCAGGGTCTCCATCTCTCTCTCTCTGGGTCTCTGTCTCCCTCTGTCT CTGGGTCTCTCTCTCCCTCTGTCTCTGGGTCTCCGTCTCTCTCTCTCTGG GTCTCTGTCTCCCTCTCTCTGGGTCTCTGTCTTCCTCTGTCTCTGGGTCT CTGTCTCCCTCTGTCTCTGGGTCTCTGTCTCCCTCTCTCTGGGTCTCCGT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT GTCTCTCTGGGTCTCCGTCTCTCTCTCTCTCTCTCTCTCT	NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding	9/48			chr12	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(463): Show CTGTGTACAGCATGTATACTGTGTACAGCATGTATACTGTATACAGCATG TATACTGTATGTATGTATACTGTATGTATGTATACTGTATGTATGTATAC CGTATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCG TATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTA TATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATA TATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATATA TACACAGTATGTATACTGTGTATGCAGTATGTATACAGTATACATACTGC ATGCAGTATGTATACTGTATACATACTGCATGCAGTATGTATACTGTATA TATACACTATACAGTATGTATACTGTATATATACACTATACAGTATGTAT ACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0014 a0001c0004t0014	a0001c0004t0014g0208 a0001c0004t0014g0208	1	362	0.0028	470	c.-75 others(489): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTATAGTGTATATATACAGTATACATACTGTATAGTGTATATATAC AGTATACATACTGCATGCAGTATGTATACAGTATACATACTGCATGCAGT ATGTATACTGTATACATACTGCATACACAGTATACATACTGTGTATATAT ACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATAC GGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGG TATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTA TACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATA CATACATACAGTATACATACATACAGTATACATACATACAGTATACATGC TGTATACAGTATACATGCTGTACACAGTATACATGCTGTACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(463): Show CTGTGTACAGCATGTATACTGTGTACAGCATGTATACTGTGTACAGCATG TATACTGTATGTATGTATACTGTATGTATGTATACTGTATGTATGTATAC CGTATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCG TATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTA TATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATA TATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATATA TACACAGTATGTATACTGTGTATGCAGTATGTATACAGTATACATACTGC ATGCAGTATGTATACTGTATACATACTGCATGCAGTATGTATACTGTATA TATACACTATACAGTATGTATACTGTATATATACACTATACAGTATGTAT ACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0063 a0001c0002t0012g0063	1	362	0.0028	470	c.-75 others(489): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTATAGTGTATATATACAGTATACATACTGTATAGTGTATATATAC AGTATACATACTGCATGCAGTATGTATACAGTATACATACTGCATGCAGT ATGTATACTGTATACATACTGCATACACAGTATACATACTGTGTATATAT ACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATAC GGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGG TATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTA TACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATA CATACATACAGTATACATACATACAGTATACATACATACAGTATACATGC TGTACACAGTATACATGCTGTACACAGTATACATGCTGTACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NHLRC4_chr16_562005_574495	571084	T T	TGTGTGTG others(463): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTA GCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGC CTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGTCTGGC TAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTCTGGCTA GCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTG TCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGTGTGTGTGTG TGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTG TGTGTGTGGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTG TGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTG TGTGTGGCTAGCCTGGCGCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	424	0.0024	470	c.26 others(481): Show c.2665_*2666insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGT GTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGT GTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGT GTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGT GTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGC CTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAG CCTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGCTAGCCTTGTGTGTGTG TGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGC TAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCC	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1590		chr16	TogoVar
NHLRC4_chr16_562005_574495	571109	C C	CTAGCCTG others(463): Show CTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCT AGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGTGTCT GGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTCTGG CTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTAT GTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGTGTGTGT GTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGT GTGTGTGTGTGGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGC CTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGT GTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTGT GTCTGGCTAGCCTGGCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0001 a0004c0005t0001g0001	1	424	0.0024	470	c.26 others(481): Show c.2690_*2691insTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTG TGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTG TGTGTGTGTGTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTG TGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTG TGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGG TGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGC TAGCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGCTAGCCTTGTGTGT GTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTG TGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCCG	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1615		chr16	TogoVar
NHLRC4_chr16_562005_574495	571109	C C	CTGGCTAG others(463): Show CTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCT GTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGT CTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTAT GTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGTGT GTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGC CCGTGTGTGTGTGGGGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGC TAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGT GTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGT GTCTGGCTAGCCTGGCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG03491.hp2 others(1): Show HG01515.hp1 HG01517.hp2 HG03491.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	424	0.0094	470	c.26 others(481): Show c.2690_*2691insTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTG TGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTG TGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATG TGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCC CGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGC CTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCG TGGCTAGCCTGGTGCCCGTGTGTGTGTGGGGGGGGGGGGGCTAGCCTTGT GTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGT GTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTG TGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCCG	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1615		chr16	TogoVar
NHLRC4_chr16_562005_574495	571109	C C	CTGGCTAG others(463): Show CTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCT GTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGT CTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTAT GTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGTGT GTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGC CCGTGTGTGTGTGTGGGGGGCGGGGCTAGCCTTGTGTGTGTGTGTCTGGC TAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGT GTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGT GTCTGGCTAGCCTGGCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	424	0.0024	470	c.26 others(481): Show c.2690_*2691insTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTG TGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTG TGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATG TGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCC CGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGC CTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCG TGGCTAGCCTGGTGCCCGTGTGTGTGTGTGGGGGGCGGGGCTAGCCTTGT GTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGT GTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTG TGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCCG	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1615		chr16	TogoVar
NHLRC4_chr16_562005_574495	571109	C C	CTGGCTAG others(463): Show CTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCT GTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGT CTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTAT GTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGTGT GTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGC CCGTGTGTGTGTGTGGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGC TAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGT GTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGT GTCTGGCTAGCCTGGCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00621.hp1 HG00621.hp2 others(48): Show HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG01069.hp2 HG01168.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01258.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG02055.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02135.hp2 HG02145.hp1 HG02486.hp1 HG02572.hp1 HG02647.hp1 HG03195.hp1 HG03239.hp1 HG03486.hp2 HG03516.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18747.hp2 NA18939.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18973.hp1 NA18985.hp2 NA18993.hp1 NA18997.hp1 NA19004.hp2 NA19030.hp2 NA19057.hp1 NA19074.hp2 NA19089.hp2 NA19091.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0003c0006 a0006c0003 a0001c0001 a0003c0006 a0006c0003	a0001c0001t0001 a0001c0001t0012 a0001c0001t0016 others(2): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0016 a0003c0006t0001 a0006c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0012g0001 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0012g0001 a0001c0001t0016g0001 a0003c0006t0001g0001 a0006c0003t0001g0001	51	424	0.1203	470	c.26 others(481): Show c.2690_*2691insTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTG TGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTG TGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATG TGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCC CGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGC CTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCG TGGCTAGCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGCTAGCCTTGT GTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGT GTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTG TGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCCG	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1615		chr16	TogoVar
NHLRC4_chr16_562005_574495	571109	C C	CTGGCTAG others(463): Show CTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCT GTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGT CTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTAT GTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGTGT GTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGC CCGTGTGTGTGTGTGTGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGC TAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGT GTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGT GTCTGGCTAGCCTGGCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG01069.hp1 others(18): Show HG00408.hp1 HG00544.hp2 HG01069.hp1 HG01071.hp2 HG02004.hp1 HG02071.hp1 HG02132.hp1 HG02258.hp2 HG02486.hp2 HG02698.hp1 HG02723.hp2 HG03209.hp1 HG03471.hp2 HG03669.hp2 NA18747.hp1 NA18941.hp1 NA18990.hp2 NA19009.hp1 NA19065.hp1 NA19088.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	21	424	0.0495	470	c.26 others(481): Show c.2690_*2691insTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTG TGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTG TGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATG TGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCC CGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGC CTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCG TGGCTAGCCTGGTGCCCGTGTGTGTGTGTGTGGGGGGGGGCTAGCCTTGT GTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGT GTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTG TGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCCG	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1615		chr16	TogoVar
NRDC_chr1_51784210_51883727	51852550	G G	GTTTTAAA others(463): Show GTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATAGTTT TAAACTATATAGTTTATATATAGTTTTAAACTATATAGTTTATATATAGT TTTAAACTATATAGTTTATATAGTTTAAAACTATATAGCTTATATAGTTT AAACTATATAGTTTATATAGTTTTAAACTATATAGTTTAAACTATATAGT TTTAAACTATATAAACTATATAGTTTTAAACTAGTTTATATATAGTTTTA AACTAGTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGTTTATG TAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTCTATAGTT TTAAACTATGTAGTTTTAAACTATATAGTTCATGTAGTTTTAAACTATAT AGTTTAAAACTATATAGTTTATGTAGTTTTAAACTAGTTTATATTTTTTT ATATAGTTTAAACTATATAGT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0111 a0001c0002t0001g0111	1	244	0.0041	470	c.342 others(489): Show c.342-12037_342-12036insACTATATAGTTTAAACTATATAAAAA AATATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTATATA GTTTAAAACTACATGAACTATATAGTTTAAAACTACATAGTTTAAAACTA TAGAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAA ACTATATAGTTTAAAACTACATAAACTATATAGTTTAAACTAGTTTAAAA CTATATATAAACTAGTTTAAAACTATATAGTTTATATAGTTTAAAACTAT ATAGTTTAAACTATATAGTTTAAAACTATATAAACTATATAGTTTAAACT ATATAAGCTATATAGTTTTAAACTATATAAACTATATAGTTTAAAACTAT ATATAAACTATATAGTTTAAAACTATATATAAACTATATAGTTTAAAACT ATATAAACTATATAGTTTAAAACTATAAACTATATAGTTTAAAA	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
NRDC_chr1_51784210_51883727	51852550	G G	GTTTTAAA others(463): Show GTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATAGTTT TAAACTATATAGTTTATATATAGTTTTAAACTATATAGTTTATATATAGT TTTAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTATATAGTTT AAACTATATAGTTTATATAGTTTTAAACTATATAGTTTAAACTATATAGT TTTAAACTATATAAACTATATAGTTTTAAACTAGTTTATATATAGTTTTA AACTAGTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGTTTATG TAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTCTATAGTT TTAAACTATGTAGTTTTAAACTATATAGTTCATGTAGTTTTAAACTATAT AGTTTAAAACTATATAGTTTATGTAGTTTTAAACTAGTTTATATTTTTTT ATATAGTTTAAACTATATAGT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0112 a0001c0002t0001g0112	1	244	0.0041	470	c.342 others(489): Show c.342-12037_342-12036insACTATATAGTTTAAACTATATAAAAA AATATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTATATA GTTTAAAACTACATGAACTATATAGTTTAAAACTACATAGTTTAAAACTA TAGAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAA ACTATATAGTTTAAAACTACATAAACTATATAGTTTAAACTAGTTTAAAA CTATATATAAACTAGTTTAAAACTATATAGTTTATATAGTTTAAAACTAT ATAGTTTAAACTATATAGTTTAAAACTATATAAACTATATAGTTTAAACT ATATAAACTATATAGTTTTAAACTATATAAACTATATAGTTTAAAACTAT ATATAAACTATATAGTTTAAAACTATATATAAACTATATAGTTTAAAACT ATATAAACTATATAGTTTAAAACTATAAACTATATAGTTTAAAA	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
NRDE2_chr14_90262860_90336941	90300885	G G	GGGGAGGG others(463): Show GGGGAGGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGGGGGAGGGGA GGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGGAGGGGGAGGGGT GGGGGAGGGAGAGGGGAAAGGGAGAGGGGAAAGGGAGGGGATGGGGGAGG GAGAAGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAG GGGGAGGGGAGGGGGAGGGGAAAGGGGGAAGGGAGAAGGGGGGAGGGGGA GGGGAAGGGGAGGAAGAGGGGAGGGGAGGAGGAAGGGGGAGGGGGAGGGG AGGAGGAAGGGGGAGGGGAGGGGGAGGGGAAAGGAGGAGGAAGGGGGAGG GGGAAGGGGAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGAGGGGGAAGG GAGGGGAGGGGAGGAGGGGGGAGGGAGAGGGGAGGGGAGGAAGAAGGGGA AGGGGGAGGGGAGGGGAGGAA	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0097 a0002c0002t0005g0097	1	344	0.0029	470	c.154 others(487): Show c.1545+353_1545+354insTTCCTCCCCTCCCCTCCCCCTTCCCCTT CTTCCTCCCCTCCCCTCTCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCC CCTCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCC CTTCCTCCTCCTTTCCCCTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTCC CCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTTCCCCTCCCCCT CCCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCCTCCCCTCCCCCTCCCCC TCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCTTCTCCCTCCCC CATCCCCTCCCTTTCCCCTCTCCCTTTCCCCTCTCCCTCCCCCACCCCTC CCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCCCTCCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NRDE2_chr14_90262860_90336941	90300885	G G	GGGGAGGG others(463): Show GGGGAGGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGGGGGAGGGGA GGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGT GGGGGAGGGAGAGGGGAAAGGGAGAGGGGAAAGGGAGGGGATGGGGGAGG GAGAAGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAG GGGGAGGGGAGGGGGAGGGGAAAGGGGGAAGGGAGAAGGGGGAGGGGGAG GGGAAGGGGAGGAAGAGGGGAGGGGAGGAGGAAGGGGGAGGGGGAGGGGA GGAGGAAGGGGGAGGGGGAGGGGGAGGGGAAAGGAGGAGGAAGGGGGAGG GGGAAGGGGAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGAGGGGGAAGG GAGGGGAGGGGAGGAGGGGGGAGGGAGAGGGGAGGGGAGGAAGAAGGGGA AGGGGGAGGGGAGGGGAGGAA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0054 a0002c0002t0019g0054	1	344	0.0029	470	c.154 others(487): Show c.1545+353_1545+354insTTCCTCCCCTCCCCTCCCCCTTCCCCTT CTTCCTCCCCTCCCCTCTCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCC CCTCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCC CTTCCTCCTCCTTTCCCCTCCCCCTCCCCCTCCCCCTTCCTCCTCCCCTC CCCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTTCCCCTCCCCC TCCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCCTCCCCTCCCCCTCCCCC TCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCTTCTCCCTCCCC CATCCCCTCCCTTTCCCCTCTCCCTTTCCCCTCTCCCTCCCCCACCCCTC CCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCCCTCCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NRDE2_chr14_90262860_90336941	90300885	G G	GGGGAGGG others(463): Show GGGGAGGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGGGGGAGGGGA GGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGGAGGGG TGGGGGAGGGAGAGGGGAAAGGGAGAGGGGAAAGGGAGGGGATGGGGGAG GGAGAAGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGA GGGGGAAGGGAGGGGGAGGGGAAAGGGGGAAGGGAGAAGGGGGAGGGGGA GGGGAAGGGGAGGAAGAGGGGAGGGGAGGAGGAAGGGGGAGGGGGAGGGG AGGAGGAAGGGGAGGGGGAGGGGGAGGGGAAAGGAGGAGGAAGGGGGAGG GGGAAGGGGAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGAGGGGGAAGG GAGGGGAGGGGAGGAGGGGGGAGGGAGAGGGGAGGGGAGGAAGAAGGGGA AGGGGGAGGGGAGGGGAGGAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0060 a0002c0002t0004g0060	1	344	0.0029	470	c.154 others(487): Show c.1545+353_1545+354insTTCCTCCCCTCCCCTCCCCCTTCCCCTT CTTCCTCCCCTCCCCTCTCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCC CCTCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCC CTTCCTCCTCCTTTCCCCTCCCCCTCCCCCTCCCCTTCCTCCTCCCCTCC CCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTTCCCCTCCCCCT CCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCCTCCCTTCCCCCTCCCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCTTCTCCCTCCCCC ATCCCCTCCCTTTCCCCTCTCCCTTTCCCCTCTCCCTCCCCCACCCCTCC CCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCCCTCCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NRDE2_chr14_90262860_90336941	90300885	G G	GGGGAGGG others(463): Show GGGGAGGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGGGGGAGGGGA GGGGAGGGGGAGGGGGGGGGAGGGGAGGGGGAGGGGGGAGGGGGAGGGGT GGGGGAGGGAGAGGGGAAAGGGAGAGGGGAAAGGGAGGGGATGGGGGAGG GAGAAGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAG GGGGAGGGGAGGGGGAGGGGAAAGGGGGAAGGGAGAAGGGGGAGGGGGAG GGGAAGGGGAGGAAGAGGGGAGGGGAGGAGGAAGGGGGAGGGGGAGGGGA GGAGGAAGGGGGAGGGGGAGGGGGAGGGGAAAGGAGGAGGAAGGGGGAGG GGGAAGGGGAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGAGGGGGAAGG GAGGGGAGGGGAGGAGGGGGGAGGGAGAGGGGAGGGGAGGAAGAAGGGGA AGGGGGAGGGGAGGGGAGGAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA18964.hp2 HG00408.hp1 NA18964.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0020 a0002c0002t0020	a0002c0002t0020g0037 a0002c0002t0020g0042 a0002c0002t0020g0037 a0002c0002t0020g0042	2	344	0.0058	470	c.154 others(487): Show c.1545+353_1545+354insTTCCTCCCCTCCCCTCCCCCTTCCCCTT CTTCCTCCCCTCCCCTCTCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCC CCTCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCC CTTCCTCCTCCTTTCCCCTCCCCCTCCCCCTCCCCCTTCCTCCTCCCCTC CCCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTTCCCCTCCCCC TCCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCCTCCCCTCCCCCTCCCCC TCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCTTCTCCCTCCCC CATCCCCTCCCTTTCCCCTCTCCCTTTCCCCTCTCCCTCCCCCACCCCTC CCCCTCCCCCCTCCCCCTCCCCTCCCCCCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCCCTCCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
OPCML_chr11_132409981_133537501	133082514	C C	CTCCCCTC others(463): Show CTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTTC CCCTCCTCTCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCC TCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCC TCCCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCT CCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCT CCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCT CATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCTCCTCCTCAT CCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCATCCT CTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCTC CTCCCCCTCGCCCATCCCCCT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0006 a0001c0001t0006g0006	1	68	0.0147	470	c.62- others(489): Show c.62-139505_62-139504insAGGGGGATGGGCGAGGGGGAGGAGAG GATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGAT GAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAG GAGGAGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAG GGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAGGGG AGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAGGAGAGG AGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAGGGGAGGAGG GGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAGGGGAGGAGGGGA AGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAGGAGAGGAGGGGAAGG GGGATGGGCGAGGGGGAGGAGAGGATGAGGAGGGGAGGAGGGGA	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OPHN1_chrX_68037344_68438495	68326860	G G	GGGGGGGG others(463): Show GGGGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGC CCCGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCC CAGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCC GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTC AGCCCCCTGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0018 a0001c0001t0003g0018	1	155	0.0065	470	c.155 others(489): Show c.155-27765_155-27764insTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCAGGGGGCTGACCC CCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCC CCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC GGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACTGGGCGG CTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTGGACGGGGCGAC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCCCCCCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
PAK2_chr3_196734857_196837647	196811215	C C	CCTTCCCT others(463): Show CCTTCCCTTCCCTACCCTCCCTTCCCTCCCTCCTTCCCTCCCTTCCTTCC CTCCCTTCCTTCCCACCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTC CTTCCCTTCCTTCCTTCCTTCCTCCCTTCTTCCTTCCTTCCTTCCTTCCC TCCCTTCCTTCCTCCCTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCC TTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCC CTCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCCTCCCTTCCTT CCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTC CCTCCCTCCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCTTCCT TCCCTCCCTCCCCTCCCTTCCCTCCCTCCCCTCCCTCCTTCCTTCCCTTC CCTCCCTTCCCTCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0004 a0006c0010t0004	a0006c0010t0004g0037 a0006c0010t0004g0037	1	178	0.0056	470	c.773 others(485): Show c.773+563_773+564insTTCCCTTCCCTACCCTCCCTTCCCTCCCTC CTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCACCTTCCTTCCTTCCCTC CCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTCCCTTCTTC CTTCCTTCCTTCCTTCCCTCCCTTCCTTCCTCCCTCCTTCCCTCCCTTCC TTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTC CTTCCCTCCCTTCCTTCCCTCCTTCCTTCCCTCCCTTCCTTCCCTTCCCT CCCTCCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTC CCTCCCTTCCTTCCCTTCCCTCCCTCCCCTCCCTTCCTTCCCTTCCCTCC CTTCCTTCCCTCCTTCCTTCCCTCCCTCCCCTCCCTTCCCTCCCTCCCCT CCCTCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTCCCCTC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PALLD_chr4_168492052_168933441	168793121	G G	GTGTGTGC others(463): Show GTGTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGT GTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGTGT GTGCATATATATACATATATGTGTGCATATATATACATATATATGTGTGC ATATATACATATATGTGTGTATATATATACATATATGTGTGCATATATAT ACATATATGTGTGCATATATATACATATATATGTGTGCATATATATACAT ATATATGTGTGCATATATATACATATATATGTGTGCATATATATACATAT ATATGTGTGCATATATATACATATATATGTGTGCATATATATACATATAT ATGTGTGCATATATATACATATATATGTGTGCATATATATACATATATAT GTGTGCATATATATACATATATATGTGTGCATATATATACATATATATGT GTGCATATATATACATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0092 a0001c0002t0010g0092	1	156	0.0064	470	c.196 others(491): Show c.1964+81221_1964+81222insGTGTGTGCATATATATACATATAT GTGTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGT GTGTGCATATATATACATATATGTGTGCATATATATACATATATATGTGT GCATATATACATATATGTGTGTATATATATACATATATGTGTGCATATAT ATACATATATGTGTGCATATATATACATATATATGTGTGCATATATATAC ATATATATGTGTGCATATATATACATATATATGTGTGCATATATATACAT ATATATGTGTGCATATATATACATATATATGTGTGCATATATATACATAT ATATGTGTGCATATATATACATATATATGTGTGCATATATATACATATAT ATGTGTGCATATATATACATATATATGTGTGCATATATATACATATATAT GTGTGCATATATATACATATATATGTGTGCATATATATACATATAT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCDH11Y_chrY_4995296_5747224	5525214	T T	TGGGAGGA others(463): Show TGGGAGGAGGAGGAGTGGGAGGAGGAGGGGGGAGGAGGCGGAGGGGGAGG AGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAGG AGGGGGCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGG AGGAGGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAAGGGGGAGG AGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAG GAGGAGGGGGAGGAGGCGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGA GGGGGAGGAGGACGGGGAGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGG AGGAGGGGGAGGGGGAGGAGGAGGGGGAGGAGGAGGAGTGGGGAGGAGGA GGGGGCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGA GGAGGGGGGAGGAGGAGGAGG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	115	0.0087	470	c.305 others(491): Show c.3052+23989_3052+23990insGAGGAGGCGGAGGGGGAGGAGGAG GGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAGGAGGGG GCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAG GGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAAGGGGGAGGAGGAG GAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGA GGGGGAGGAGGCGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGGGG AGGAGGACGGGGAGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAG GGGGAGGGGGAGGAGGAGGGGGAGGAGGAGGAGTGGGGAGGAGGAGGGGG CAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAGG GGGGAGGAGGAGGAGGGGGAGGAGGAGGAGTGGGAGGAGGAGGGGG	PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrY	TogoVar
PCDH11Y_chrY_4995296_5747224	5525214	T T	TGGGAGGA others(463): Show TGGGAGGAGGAGGAGTGGGAGGAGGAGGGGGGAGGAGGCGGAGGGGGAGG AGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAGG AGGGGGCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGG AGGAGGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGGGAGG AGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAG GAGGCGGAGGGGGAGGCGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGA GGGGGAGGAGGACGGGGAGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGG AGGAGGGGGAGGGGGAGGAGGAGGGGGAGGAGGAGGAGTGGGGAGGAGGA GGGGGCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGA GGAGGGGGGAGGAGGAGGAGG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0047 a0002c0002t0001g0047	1	115	0.0087	470	c.305 others(491): Show c.3052+23989_3052+23990insGAGGAGGCGGAGGGGGAGGAGGAG GGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAGGAGGGG GCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAG GGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGAG GAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGC GGAGGGGGAGGCGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGGGG AGGAGGACGGGGAGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAG GGGGAGGGGGAGGAGGAGGGGGAGGAGGAGGAGTGGGGAGGAGGAGGGGG CAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAGG GGGGAGGAGGAGGAGGGGGAGGAGGAGGAGTGGGAGGAGGAGGGGG	PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrY	TogoVar
PIAS4_chr19_4002736_4044386	4011872	C C	CTGTGGGG others(463): Show CTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGG TGTGTGGGGTGTGGGGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAG GTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGA GCTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAA GTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGA GGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGG AGCTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGA GGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAG GTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGA GGTGTGAGGGGTGTGGAGGTG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0262 a0001c0005t0001g0262	1	334	0.0030	470	c.28- others(485): Show c.28-1032_28-1031insTGGGGTGTGGAGGTGTGTGGGGTGTGGAGG TGTGTGGGGTGTGGGGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAG GTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGA GCTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAA GTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGA GGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGG AGCTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGA GGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAG GTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGA GGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTG	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PIAS4_chr19_4002736_4044386	4011943	T T	TGGGGTGT others(463): Show TGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GTGGGGTGTGGAGGTGTGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGTTTGGTGTGGAAGTGTGTGGGGTGTGGAGGTGT GTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTG TGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTGT GTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGTTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GAGGGGTGTGGAGGTGTGTGGGATGTGGAGGTGTGAGGGGTGTGGAGGTG TGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGT GTGTGGGGTGTGGAGGTGTGA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0296 a0001c0012t0001g0296	1	334	0.0030	470	c.28- others(483): Show c.28-912_28-911insTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGT GGGGTGTGGAGGTGTGTTTGGTGTGGAAGTGTGTGGGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GTGGGGTGTGGAGGTGTGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGT GGGGTGTGGAGGTGTGTTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTG AGGGGTGTGGAGGTGTGTGGGATGTGGAGGTGTGAGGGGTGTGGAGGTGT GTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTG TGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGAGGT GTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGT	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PIAS4_chr19_4002736_4044386	4011943	T T	TGGGGTGT others(463): Show TGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GTGGGGTGTGGAGGTGTGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGTTTGGTGTGGAAGTGTGTGGGGTGTGGAGGTGT GTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTG TGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTGT GTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGTTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GAGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTG TGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGT GTGTGGGGTGTGGAGGTGTGA	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA20300.hp1 HG01884.hp2 NA20300.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0260 a0001c0005t0001g0264 a0001c0005t0001g0260 a0001c0005t0001g0264	2	334	0.0060	470	c.28- others(483): Show c.28-912_28-911insTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGT GGGGTGTGGAGGTGTGTTTGGTGTGGAAGTGTGTGGGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GTGGGGTGTGGAGGTGTGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGT GGGGTGTGGAGGTGTGTTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTG AGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGT GTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTG TGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGAGGT GTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGT	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PIEZO1_chr16_88710338_88790220	88731922	A A	AGAGGGCG others(463): Show AGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGAGGGCGGGGTGTGGG GATGCACTGAGTCTGGGGGGGGGGGGGTGTGGGGATGCACTGAGTCTGGG GAGGGCGGGGCATGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTGTGGG GATGCACTGAGTCTGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGG GAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGCGTGGG GATGCACTGAGTCGGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGG GGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGCGTGG GGATGCACTGAGTCGGGGGGAGGGGGGTGTGGGGATGCACTGAGTCTGGG GGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGGAGGGCGGGGTGT GGGGATGCACTGAGTCTGGGG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0069 a0069	a0069c0088 a0069c0088	a0069c0088t0009 a0069c0088t0009	a0069c0088t0009g0003 a0069c0088t0009g0003	1	282	0.0036	470	c.299 others(485): Show c.2992-13_2992-12insCCCCAGACTCAGTGCATCCCCACACCCCGC CCTCCCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCCAGACTC AGTGCATCCCCACACCCCCCTCCCCCCGACTCAGTGCATCCCCACGCCCC CCCCTCCCCCAGACTCAGTGCATCCCCACACCCCGCCCTCCCCAGACTCA GTGCATCCCCACACCCCGCCCTCCCCCCGACTCAGTGCATCCCCACGCCC CCCCCTCCCCCAGACTCAGTGCATCCCCACACCCCGCCCTCCCCAGACTC AGTGCATCCCCACACCCCGCCCTCCCCAGACTCAGTGCATCCCCACACCC CCCCCTCCCCCAGACTCAGTGCATCCCCATGCCCCGCCCTCCCCAGACTC AGTGCATCCCCACACCCCCCCCCCCCCAGACTCAGTGCATCCCCACACCC CGCCCTCCCCAGACTCAGTGCATCCCCACGCCCCGCCCTC	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	21/50			chr16	TogoVar
PIGQ_chr16_564968_589109	571109	C C	CTAGCCTG others(463): Show CTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCT AGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGTGTCT GGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTCTGG CTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTAT GTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGTGTGTGT GTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGT GTGTGTGTGTGGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGC CTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGT GTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTGT GTCTGGCTAGCCTGGCACCCG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0135 a0002c0001t0001g0135	1	408	0.0025	470	c.-10 others(487): Show c.-10+1014_-10+1015insAGCCTGTGTGTGTGTGTCTGGCTAGCCT GTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCT GTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTAT GTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGC CCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAG CCTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCC GTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGCTAGCCTTG TGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTG TGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGT GTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCCGT	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PIGQ_chr16_564968_589109	571109	C C	CTGGCTAG others(463): Show CTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCT GTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGT CTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTAT GTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGTGT GTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGC CCGTGTGTGTGTGGGGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGC TAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGT GTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGT GTCTGGCTAGCCTGGCACCCG	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0125 a0002c0001t0001g0125	1	408	0.0025	470	c.-10 others(487): Show c.-10+1024_-10+1025insTGTGTGTGTGTCTGGCTAGCCTGTGTGT GTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGT GTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGT GTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGT GTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGT GCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCT AGCCTGGTGCCCGTGTGTGTGTGGGGGGGGGGGGGCTAGCCTTGTGTGTG TGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTG GCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGT GTGTGTGTGTGTCTGGCTAGCCTGGCACCCGTGGCTAGCCTG	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PIGQ_chr16_564968_589109	571109	C C	CTGGCTAG others(463): Show CTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCT GTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGT CTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTAT GTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGTGT GTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGC CCGTGTGTGTGTGTGGGGGGCGGGGCTAGCCTTGTGTGTGTGTGTCTGGC TAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGT GTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGT GTCTGGCTAGCCTGGCACCCG	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG03831.hp1 HG02080.hp1 HG03831.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0138 a0002c0001t0001g0165 a0002c0001t0001g0138 a0002c0001t0001g0165	2	408	0.0049	470	c.-10 others(487): Show c.-10+1024_-10+1025insTGTGTGTGTGTCTGGCTAGCCTGTGTGT GTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGT GTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGT GTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGT GTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGT GCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCT AGCCTGGTGCCCGTGTGTGTGTGTGGGGGGCGGGGCTAGCCTTGTGTGTG TGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTG GCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGT GTGTGTGTGTGTCTGGCTAGCCTGGCACCCGTGGCTAGCCTG	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PIGQ_chr16_564968_589109	571109	C C	CTGGCTAG others(463): Show CTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCT GTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGT CTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTAT GTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGTGT GTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGC CCGTGTGTGTGTGTGGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGC TAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGT GTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGT GTCTGGCTAGCCTGGCACCCG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00621.hp1 HG00621.hp2 others(43): Show HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01070.hp2 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01258.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG02074.hp2 HG02080.hp2 HG02135.hp1 HG02145.hp1 HG02486.hp1 HG02572.hp2 HG02647.hp1 HG02886.hp1 HG03195.hp2 HG03239.hp1 HG03486.hp2 HG03516.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18944.hp1 NA18951.hp1 NA18959.hp2 NA18985.hp2 NA18997.hp1 NA19004.hp2 NA19030.hp2 NA19057.hp1 NA19074.hp1 NA19089.hp2 NA19091.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1	a0002 a0006 a0008 others(2): Show a0002 a0006 a0008 a0011 a0012	a0002c0001 a0002c0006 a0002c0007 others(5): Show a0002c0001 a0002c0006 a0002c0007 a0002c0010 a0006c0013 a0008c0014 a0011c0015 a0012c0019	a0002c0001t0001 a0002c0001t0005 a0002c0001t0011 others(9): Show a0002c0001t0001 a0002c0001t0005 a0002c0001t0011 a0002c0001t0012 a0002c0001t0022 a0002c0006t0001 a0002c0007t0001 a0002c0010t0001 a0006c0013t0001 a0008c0014t0001 a0011c0015t0001 a0012c0019t0001	a0002c0001t0001g0016 a0002c0001t0001g0017 a0002c0001t0001g0019 others(43): Show a0002c0001t0001g0016 a0002c0001t0001g0017 a0002c0001t0001g0019 a0002c0001t0001g0020 a0002c0001t0001g0023 a0002c0001t0001g0024 a0002c0001t0001g0129 a0002c0001t0001g0130 a0002c0001t0001g0139 a0002c0001t0001g0140 a0002c0001t0001g0146 a0002c0001t0001g0157 a0002c0001t0001g0158 a0002c0001t0001g0166 a0002c0001t0001g0167 a0002c0001t0001g0168 a0002c0001t0001g0169 a0002c0001t0001g0173 a0002c0001t0001g0194 a0002c0001t0001g0195 a0002c0001t0001g0205 a0002c0001t0001g0208 a0002c0001t0001g0209 a0002c0001t0001g0210 a0002c0001t0001g0212 a0002c0001t0001g0213 a0002c0001t0001g0214 a0002c0001t0001g0218 a0002c0001t0001g0223 a0002c0001t0001g0229 a0002c0001t0001g0230 a0002c0001t0005g0131 a0002c0001t0005g0148 a0002c0001t0005g0160 a0002c0001t0005g0226 a0002c0001t0011g0144 a0002c0001t0011g0207 a0002c0001t0012g0023 a0002c0001t0022g0142 a0002c0006t0001g0206 a0002c0007t0001g0186 a0002c0010t0001g0170 a0006c0013t0001g0017 a0008c0014t0001g0172 a0011c0015t0001g0159 a0012c0019t0001g0228	46	408	0.1128	470	c.-10 others(487): Show c.-10+1024_-10+1025insTGTGTGTGTGTCTGGCTAGCCTGTGTGT GTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGT GTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGT GTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGT GTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGT GCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCT AGCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGCTAGCCTTGTGTGTG TGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTG GCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGT GTGTGTGTGTGTCTGGCTAGCCTGGCACCCGTGGCTAGCCTG	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PIGQ_chr16_564968_589109	571109	C C	CTGGCTAG others(463): Show CTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCT GTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGT CTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTAT GTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGTGT GTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGC CCGTGTGTGTGTGTGTGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGC TAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGT GTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGT GTCTGGCTAGCCTGGCACCCG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01069.hp2 HG01071.hp2 others(13): Show HG00544.hp2 HG01069.hp2 HG01071.hp2 HG01943.hp1 HG02004.hp2 HG02132.hp1 HG02486.hp2 HG02698.hp2 HG02723.hp2 HG03209.hp1 HG03669.hp2 NA18747.hp1 NA18941.hp1 NA19009.hp1 NA19065.hp2 NA20129.hp2	a0002 a0005 a0017 a0002 a0005 a0017	a0002c0001 a0002c0007 a0005c0009 others(1): Show a0002c0001 a0002c0007 a0005c0009 a0017c0016	a0002c0001t0001 a0002c0001t0005 a0002c0007t0001 others(2): Show a0002c0001t0001 a0002c0001t0005 a0002c0007t0001 a0005c0009t0010 a0017c0016t0005	a0002c0001t0001g0022 a0002c0001t0001g0132 a0002c0001t0001g0175 others(11): Show a0002c0001t0001g0022 a0002c0001t0001g0132 a0002c0001t0001g0175 a0002c0001t0001g0176 a0002c0001t0001g0188 a0002c0001t0001g0220 a0002c0001t0005g0018 a0002c0001t0005g0134 a0002c0001t0005g0151 a0002c0001t0005g0161 a0002c0001t0005g0178 a0002c0007t0001g0177 a0005c0009t0010g0133 a0017c0016t0005g0201	16	408	0.0392	470	c.-10 others(487): Show c.-10+1024_-10+1025insTGTGTGTGTGTCTGGCTAGCCTGTGTGT GTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGT GTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGT GTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGT GTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGT GCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCT AGCCTGGTGCCCGTGTGTGTGTGTGTGGGGGGGGGCTAGCCTTGTGTGTG TGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTG GCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGT GTGTGTGTGTGTCTGGCTAGCCTGGCACCCGTGGCTAGCCTG	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PNMA5_chrX_152983824_152999116	152998738	T T	TTTATATA others(463): Show TTTATATATAATATATAATATATATTTATATAAAAATATATTATATATAA TATAATATATATTATATATAATATATATTTATATATAATATAATATATAT TATATATAATATATATTATATATAATATAATATATATTATATATAATATA TATTTATATATAATATAATATATATTATATATAATATATATTATATATAA TATAATATATATTATATATAATATATATTTATATATAATATAATATATAT TATATATAATATATATTATATATAATATAATATATATTATATATAATATA TATTTATATATAATATAATATATATTATATATAATATATATTATATATAA TATAATATATATTATATATAAAAATATATTTATATATATTATATTATATA TAATATATTATATATATTATATTATATATAATATATTATATATATTATAT ATATATAATATATATATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0008 a0001c0002t0002g0008	1	286	0.0035	470	c.-50 others(481): Show c.-5036_-5035insTATAATATATATATTATATATATATAATATATAT AATATATTATATATAATATAATATATATAATATATTATATATAATATAAT ATATATAAATATATTTTTATATATAATATATATTATATTATATATAATAT ATATTATATATAATATATATTATATTATATATAAATATATATTATATATA ATATATATTATATTATATATAATATATATTATATATAATATATATTATAT TATATATAAATATATATTATATATAATATATATTATATTATATATAATAT ATATTATATATAATATATATTATATTATATATAAATATATATTATATATA ATATATATTATATTATATATAATATATATTATATATAATATATATTATAT TATATATAAATATATATTATATATAATATATATTATATTATATATAATAT ATTTTTATATAAATATATATTATATATTATATATAA	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4623		chrX	TogoVar
PPP2R2D_chr10_131896008_131964834	131952196	C C	CAGTGACT others(463): Show CAGTGACTTGGGGGGTCCCTGTCTTAGCAGTGACTTGCGGGTGTGCGGGG GTTCACTGTCTTAGTGACTTGCGGGTGTGCGGGGGGTTCACTGTCTTAGT GATTTGCATGTGTGGGGGGGGTTCACTGTCTTAGTGACTTGCGGGTGTGC GGGGGTTCACTGTCTTAGTGACTTGCGGGTGTGCGGGGGTTCACTGTCTT AGCAGTGACTTGTGGGTGTGCGGGGGTTCACTGTCTTAGTGACTTGGTGT GCGGGGGGGTTCACTGTCTTAGTGACTTGTGGGTGTGCGGGGGGTTCACT GTCTTAGTGACTTGCGGGTGTGCGGGGGGTTCACTAGTGACTTGCGGGTG TGCGGGGGGTTCACTAGTGACTTGCGGGTGTGCGGGGGGGTTCATTGTCT TAGTGACTTGCGGGTGTGCGGGGGGTTCACTGTCTTAGTGACTTGCGGGT GTGCGGGGGGTTCACTGTCTT	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19080.hp2 NA19009.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0185 a0001c0001t0007g0186 a0001c0001t0007g0185 a0001c0001t0007g0186	2	394	0.0051	470	c.108 others(489): Show c.1083-3479_1083-3478insGGGGGTCCCTGTCTTAGCAGTGACTT GCGGGTGTGCGGGGGTTCACTGTCTTAGTGACTTGCGGGTGTGCGGGGGG TTCACTGTCTTAGTGATTTGCATGTGTGGGGGGGGTTCACTGTCTTAGTG ACTTGCGGGTGTGCGGGGGTTCACTGTCTTAGTGACTTGCGGGTGTGCGG GGGTTCACTGTCTTAGCAGTGACTTGTGGGTGTGCGGGGGTTCACTGTCT TAGTGACTTGGTGTGCGGGGGGGTTCACTGTCTTAGTGACTTGTGGGTGT GCGGGGGGTTCACTGTCTTAGTGACTTGCGGGTGTGCGGGGGGTTCACTA GTGACTTGCGGGTGTGCGGGGGGTTCACTAGTGACTTGCGGGTGTGCGGG GGGGTTCATTGTCTTAGTGACTTGCGGGTGTGCGGGGGGTTCACTGTCTT AGTGACTTGCGGGTGTGCGGGGGGTTCACTGTCTTAGTGACTTG	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKCZ_chr1_2045411_2190395	2106627	C C	CTCAGCAA others(463): Show CTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCC AGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCATGCGTGT CACCAGGCCAGGTGACTCTTCAGCAAGCCCCTCTGGTGGGCGAGGACCTC CACGTGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCG AGGACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTC CGGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGTAACTCTCAGCA AGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGAC TCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGG CCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCATGCGT GTCACCAGGCCAGGTGACTCT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0100 a0001c0002t0001g0100	1	286	0.0035	470	c.335 others(489): Show c.335-28621_335-28620insCGGTGGGCGAGGACCTCCACACGTGT CACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTC CATGCGTGTCACCAGGCCAGGTGACTCTTCAGCAAGCCCCTCTGGTGGGC GAGGACCTCCACGTGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTC CGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGC AGGCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGTAA CTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGG CCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCACACGT GTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACC TCCATGCGTGTCACCAGGCCAGGTGACTCTTCAGCAAGCCCCTC	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
RAB27A_chr15_55197966_55294813	55209927	T T	TATATGTG others(463): Show TATATGTGTATATATACGTATATACACACATATATGTGTATATATACGTA TATACACACATATATGTGTATATATACGTATATACACACATATATGTGTA TATATACGTATATACACATATATGTGTATATATACGTATATACACATATA TGTGTATATATACGTATACATACACACATATATGTGTATATATACGTATA CATACACATATATGTGTATATATACGTATACATACACATATATGCGTATA TATACGTATACATACACATATATGCGTATATATACGTATATACACACATG TGTGTGTATACGTATATATACACACATATGTGTGTGTATACGGATATACA CACATATGTGTGTATATATACGTATATACACACATATGTGTGTATATATA CGTATATACACATATATGTGTGTATATCCGTATATATACACATATATGTG TGTATATCCGTATATATACAC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0138 a0001c0001t0010g0138	1	320	0.0031	470	c.468 others(487): Show c.468-4223_468-4222insGTGTATATATACGGATATACACACATAT ATGTGTATATATACGGATATACACACATATATGTGTATATACGTATATAT ACACACATATGTGTGTATATACGTATATATACACACATATGTGTGTATAT CCGTATACACACACATATGTGTGTATATATACGTATACACACACATGTGT GTATATACGTATATATACGCATATATGTGTATGTATACGTATATATACGC ATATATGTGTATGTATACGTATATATACACATATATGTGTATGTATACGT ATATATACACATATATGTGTGTATGTATACGTATATATACACATATATGT GTATATACGTATATATACACATATATGTGTATATACGTATATATACACAT ATATGTGTGTATATACGTATATATACACATATATGTGTGTATATACGTAT ATATACACATATATGTGTGTATATACGTATATATACACATAT	RAB27A	ENSG00000069974.17	transcript	ENST00000336787.6	protein_coding	6/6			chr15	TogoVar
RABL6_chr9_136802948_136846187	136803215	G G	GGGGCCCC others(463): Show GGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGA GCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTT CGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGG CCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGG GCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGG TGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATC TTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0261 a0001c0003t0001g0261	1	330	0.0030	470	c.-49 others(481): Show c.-4982_-4981insGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGG ATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCA GCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCT GGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTT CGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGC CAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGG CCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCC	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding		4732		chr9	TogoVar
RABL6_chr9_136802948_136846187	136803232	A A	AGCCCTCT others(463): Show AGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC CGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTT CGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGC CAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGG CCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGG TGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCTGGGGCCCCCAGGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	330	0.0030	470	c.-49 others(481): Show c.-4965_-4964insGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAG CTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCA GCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCC GGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGA GCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTT CGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGG CCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGG GCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGG TGAGCTCAGGGCCCAGGGCTGGGGCCCCCAGGGCGG	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding		4715		chr9	TogoVar
RASA3_chr13_113972783_114137623	114010763	G G	GGAGGGGA others(463): Show GGAGGGGAAGGCGTGGGGAGGAGGGGAAGGCATGGGGAGGAGGGGGCCAC ATGGGGAGGAGCGGGGCCGCGAGGGGAGGAGGGGGCCGCGTGGCGGAGGA GGGGGCTGTGAGGAGAGGAGGGGGCCCCGTGGGGAGGAGGGGAAGGCTTG GGGAGGAGGGGGGCCGCGAGGGGAGGAGGGAGCCGCGTGGGGAGGAGGGG GCCACATGGGAGGAGGGAGGCGCCGCGTGGGGAGGAGGGGGCCGTGAGGA GAGGAGGGGGCCCCGTGGGGAGGAGGGGAAGGCGTGGGGAGGAGGGGGGC GCGTGGGGAGGAGGGGGCCGCGTGGGGAGGAGGCGCCGTGTGGGGAGGAG GGGGCCGCGAGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGCCGCGTGG GGAGGAGGGGGCCGTGTGGGGAGGAGAGGGCCGCGTGGGGAGGAGGGGGC CGCGTGGGGAGGAGGCGCCGT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	67	0.0149	470	c.159 others(487): Show c.1590+407_1590+408insACGGCGCCTCCTCCCCACGCGGCCCCCT CCTCCCCACGCGGCCCTCTCCTCCCCACACGGCCCCCTCCTCCCCACGCG GCCCCCTCCTCCCCACGCGGCCCCCTCCTCCCCTCGCGGCCCCCTCCTCC CCACACGGCGCCTCCTCCCCACGCGGCCCCCTCCTCCCCACGCGCCCCCC TCCTCCCCACGCCTTCCCCTCCTCCCCACGGGGCCCCCTCCTCTCCTCAC GGCCCCCTCCTCCCCACGCGGCGCCTCCCTCCTCCCATGTGGCCCCCTCC TCCCCACGCGGCTCCCTCCTCCCCTCGCGGCCCCCCTCCTCCCCAAGCCT TCCCCTCCTCCCCACGGGGCCCCCTCCTCTCCTCACAGCCCCCTCCTCCG CCACGCGGCCCCCTCCTCCCCTCGCGGCCCCGCTCCTCCCCATGTGGCCC CCTCCTCCCCATGCCTTCCCCTCCTCCCCACGCCTTCCCCTC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	16/23			chr13	TogoVar
RFC1_chr4_39282456_39371362	39348424	A A	AAAAAGAA others(463): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0203 a0001c0001t0002g0203	1	276	0.0036	470	c.132 others(487): Show c.132+2923_132+2924insCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar
RFX2_chr19_5988164_6115500	6069986	T T	TGGATGGG others(463): Show TGGATGGGATGGAATGGGATGTGGATGGGATGGAATGGGATGTGGATGGG ATGGAATGGGATGTGGATGGGATAGAATCGGATGTGAATGGGGTGGAATG GGATATGATGGGGTGGGATGGGATGTGGATGGGATGGGATGGGATGTGGA TGGGATGGAATGGGATGTGGATGGGATGGAATGGGATGTGGATGGGATAG AATCGGATGTGAATGGGGTGGAATGGGATGTGAATGGGGTGGGATGGGAT GTGGATGGGGTGGGATGGGATGGGATGTGGATGGGATGGAATGGGATGTG GATGGGATGTGATGGGATGTGGATGGGGTGGAACGGGATGTGGATGGGGT GGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTAGGATGGG ATGTGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGAT AGAGTGGGATGGGATGGGATG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02027.hp2 HG01891.hp1 HG02027.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0001 a0002c0006t0001 a0001c0001t0001 a0002c0006t0001	a0001c0001t0001g0253 a0002c0006t0001g0214 a0001c0001t0001g0253 a0002c0006t0001g0214	2	308	0.0065	470	c.-8- others(487): Show c.-8-22483_-8-22482insCATCCCATCCCATCCCACTCTATCCACA TCCCTTTCCATCCCATCCACATCTCATCCCACCCCATCCACATCCCATCC TACCCCATCCACATCCCTTTCCATCCCATCCACATCTCATCCCACCCCAT CCACATCCCGTTCCACCCCATCCACATCCCATCACATCCCATCCACATCC CATTCCATCCCATCCACATCCCATCCCATCCCACCCCATCCACATCCCAT CCCACCCCATTCACATCCCATTCCACCCCATTCACATCCGATTCTATCCC ATCCACATCCCATTCCATCCCATCCACATCCCATTCCATCCCATCCACAT CCCATCCCATCCCATCCACATCCCATCCCACCCCATCATATCCCATTCCA CCCCATTCACATCCGATTCTATCCCATCCACATCCCATTCCATCCCATCC ACATCCCATTCCATCCCATCCACATCCCATTCCATCCCATCC	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RFX2_chr19_5988164_6115500	6070038	G G	GGAATGGG others(463): Show GGAATGGGATGTGGATGGGATAGAATCGGATGTGAATGGGGTGGAATGGG ATATGATGGGGTGGGATGGGATGTGGATGGGATGGGATGGGATGTGGATG GGATGGAATGGGATGTGGATGGGATGGAATGGGATGTGGATGGGATAGAA TCGGATGTGAATGGGGTGGAATGGGATGTGAATGGGGTGGGATGGGATGT GGATGGGGTGGGATGGGATGGGATGTGGATGGGATGGAATGGGATGTGGA TGGGATGTGATGGGATGTGGATGGGGTGGAACGGGATGTGGATGGGGTGG GATGAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTAGGATGGGAT GTGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATAG AGTGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGATG GGATGGGATGGGATGTGGATA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02486.hp2 NA18970.hp1 HG02135.hp2 HG02486.hp2 NA18970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0067 a0002c0002t0001g0194 a0002c0002t0001g0209 a0002c0002t0001g0067 a0002c0002t0001g0194 a0002c0002t0001g0209	3	308	0.0097	470	c.-8- others(487): Show c.-8-22535_-8-22534insTATCCACATCCCATCCCATCCCATCCAC ATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCACTCTATCCA CATCCCTTTCCATCCCATCCACATCTCATCCCACCCCATCCACATCCCAT CCTACCCCATCCACATCCCTTTCCATCCCATCCACATCTCATCCCACCCC ATCCACATCCCGTTCCACCCCATCCACATCCCATCACATCCCATCCACAT CCCATTCCATCCCATCCACATCCCATCCCATCCCACCCCATCCACATCCC ATCCCACCCCATTCACATCCCATTCCACCCCATTCACATCCGATTCTATC CCATCCACATCCCATTCCATCCCATCCACATCCCATTCCATCCCATCCAC ATCCCATCCCATCCCATCCACATCCCATCCCACCCCATCATATCCCATTC CACCCCATTCACATCCGATTCTATCCCATCCACATCCCATTC	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RIMBP2_chr12_130391133_130721299	130660321	G G	GCAGGTGC others(463): Show GCAGGTGCTGACATAAAACATCGGGGAGACCTCCAGGAAGCAAGAACACC GCCCATAGCTCTTGGGTTTGGTAAGTGGAATGTAAATATGCCGGAAGGCT GGGCTCAGTGGCTCATGCCTTTAATCCCAACACTTTGGGAGGCCAAGGCC AGTGGATCACTGGAGGCCAGGAGTTTGAGACTAGCCTGGGCAACATGGTG AAACCCCATCTCTACAAAAAATACAAAAATTAGCTAGGCGGTCCATGCCT GTAGTCCCAGCTACTCAGGGGGCACAGGTGGGAGGATCACCTGAGCCTGG GAGGCAGAGGTTGCAGTGATACTCAGGGGACTCAGGTGGGAGGATCACCT GAACCTGGGAGGCAGAGGTCGCAGTGAGCCACGATCACGTCGCTGCACTC CAGCCTGGGCAACAGGGCGACCTTGTCTCAAAAAAATAAAATGAATAAAT AAACAAGCCCAAAGATTTTGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00544.hp2 others(93): Show HG00099.hp1 HG00280.hp1 HG00544.hp2 HG00639.hp1 HG00642.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01109.hp1 HG01109.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01978.hp2 HG01981.hp2 HG02071.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02258.hp2 HG02451.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02738.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG06807.hp2 NA18906.hp1 NA18950.hp1 NA18964.hp1 NA18964.hp2 NA18979.hp1 NA18986.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19030.hp1 NA19064.hp1 NA19064.hp2 NA19084.hp1 NA19084.hp2 NA19240.hp1 NA20752.hp1 NA20752.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0011 a0015 a0016 a0019 a0020	a0001c0001 a0001c0002 a0001c0003 others(29): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0011 a0001c0019 a0001c0021 a0001c0024 a0001c0033 a0001c0045 a0001c0049 a0001c0050 a0002c0009 a0002c0010 a0002c0016 a0002c0030 a0002c0035 a0003c0040 a0003c0041 a0004c0031 a0005c0015 a0007c0018 a0008c0013 a0011c0046 a0015c0051 a0016c0047 a0019c0038 a0020c0043	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0004t0002 a0001c0005t0001 a0001c0005t0009 a0001c0006t0001 a0001c0007t0001 a0001c0008t0001 a0001c0011t0001 a0001c0019t0001 a0001c0021t0001 a0001c0024t0001 a0001c0033t0001 a0001c0045t0001 a0001c0049t0001 a0001c0050t0001 a0002c0009t0001 a0002c0010t0001 a0002c0016t0001 a0002c0030t0001 a0002c0035t0003 a0003c0040t0001 a0003c0041t0001 a0004c0031t0002 a0005c0015t0001 a0007c0018t0001 a0008c0013t0003 a0011c0046t0001 a0015c0051t0001 a0016c0047t0004 a0019c0038t0001 a0020c0043t0001	a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0029 others(93): Show a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0040 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0092 a0001c0001t0001g0098 a0001c0001t0001g0127 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0179 a0001c0001t0002g0031 a0001c0001t0002g0037 a0001c0001t0002g0084 a0001c0001t0002g0091 a0001c0001t0002g0126 a0001c0001t0005g0078 a0001c0002t0001g0021 a0001c0002t0001g0036 a0001c0002t0001g0049 a0001c0002t0001g0054 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0107 a0001c0002t0001g0110 a0001c0002t0001g0152 a0001c0002t0001g0162 a0001c0002t0002g0017 a0001c0002t0002g0044 a0001c0002t0002g0060 a0001c0003t0001g0010 a0001c0003t0001g0058 a0001c0003t0001g0077 a0001c0003t0001g0086 a0001c0003t0001g0130 a0001c0003t0002g0079 a0001c0004t0001g0001 a0001c0004t0001g0004 a0001c0004t0001g0041 a0001c0004t0001g0112 a0001c0004t0001g0121 a0001c0004t0002g0003 a0001c0005t0001g0032 a0001c0005t0001g0085 a0001c0005t0001g0099 a0001c0005t0001g0165 a0001c0005t0009g0157 a0001c0006t0001g0033 a0001c0006t0001g0039 a0001c0006t0001g0042 a0001c0006t0001g0061 a0001c0006t0001g0073 a0001c0006t0001g0075 a0001c0006t0001g0076 a0001c0006t0001g0081 a0001c0007t0001g0038 a0001c0007t0001g0160 a0001c0008t0001g0050 a0001c0008t0001g0070 a0001c0008t0001g0134 a0001c0008t0001g0143 a0001c0008t0001g0153 a0001c0008t0001g0176 a0001c0011t0001g0125 a0001c0011t0001g0159 a0001c0019t0001g0023 a0001c0021t0001g0014 a0001c0021t0001g0043 a0001c0024t0001g0170 a0001c0033t0001g0026 a0001c0045t0001g0067 a0001c0049t0001g0011 a0001c0050t0001g0169 a0002c0009t0001g0122 a0002c0010t0001g0128 a0002c0016t0001g0124 a0002c0016t0001g0135 a0002c0030t0001g0012 a0002c0035t0003g0139 a0003c0040t0001g0132 a0003c0041t0001g0171 a0004c0031t0002g0137 a0005c0015t0001g0066 a0005c0015t0001g0133 a0007c0018t0001g0052 a0007c0018t0001g0059 a0008c0013t0003g0175 a0011c0046t0001g0035 a0015c0051t0001g0104 a0016c0047t0004g0167 a0019c0038t0001g0002 a0020c0043t0001g0120	96	180	0.5333	470	c.-35 others(491): Show c.-351-31866_-351-31865insGCAAAATCTTTGGGCTTGTTTATT TATTCATTTTATTTTTTTGAGACAAGGTCGCCCTGTTGCCCAGGCTGGAG TGCAGCGACGTGATCGTGGCTCACTGCGACCTCTGCCTCCCAGGTTCAGG TGATCCTCCCACCTGAGTCCCCTGAGTATCACTGCAACCTCTGCCTCCCA GGCTCAGGTGATCCTCCCACCTGTGCCCCCTGAGTAGCTGGGACTACAGG CATGGACCGCCTAGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTCAC CATGTTGCCCAGGCTAGTCTCAAACTCCTGGCCTCCAGTGATCCACTGGC CTTGGCCTCCCAAAGTGTTGGGATTAAAGGCATGAGCCACTGAGCCCAGC CTTCCGGCATATTTACATTCCACTTACCAAACCCAAGAGCTATGGGCGGT GTTCTTGCTTCCTGGAGGTCTCCCCGATGTTTTATGTCAGCACCTG	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RNF213_chr17_80255852_80403794	80274697	G G	GTGAGTGG others(463): Show GTGAGTGGGGTGAATGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGG GGTGATGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGCGGGGTGAGTGTG GGGGTGAGTGGGGTGAGTGTGTGGGGAGTGAGTGGGGTGAGTGTGGGGTG ATGGGGTGAGTGTGGGGGGTGAGGGGGGTGAGTGGGGTGTCTGTGGGGGG TGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGGGGGGGTGAGTGG GGTGAGTGGGGGGTGAGTGGGGTGTCTGGGGGGTGAGTGGGGTGAGTGGG GGGTGAGTGGGGTGAGTGTGGGGGTGAGTGGGGTGAGTGTGTGGGGTGAG TGGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGT GAGTGGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGTCTGTG GGGGGTGTGGGGTGAGTGTGT	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0019 a0006c0009t0019	a0006c0009t0019g0272 a0006c0009t0019g0272	1	292	0.0034	470	c.261 others(487): Show c.261+1293_261+1294insTGAGTGGGGTGAATGTGGGGTGAGTGGG GTGAGTGTGGGGGGTGAGTGGGGTGATGGGGGTGAGTGGGGTGAGTGTGG GGGGTGAGCGGGGTGAGTGTGGGGGTGAGTGGGGTGAGTGTGTGGGGAGT GAGTGGGGTGAGTGTGGGGTGATGGGGTGAGTGTGGGGGGTGAGGGGGGT GAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGG GGTGAGTGGGGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGTCTGG GGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGAGTGTGGGGGTGAGT GGGGTGAGTGTGTGGGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTG AGTGTGGGGGGTGAGTGGGGTGAGTGGGGGGGTGAGTGGGGTGAGTGTGG GGGGTGAGTGGGGTGTCTGTGGGGGGTGTGGGGTGAGTGTGT	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	3/67			chr17	TogoVar
RSRC1_chr3_158105089_158550730	158229041	C C	CACACATA others(463): Show CACACATACGTGTATATGTGTATATAAACACATACGTGTATATGTGTATA TAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTATATG TGTATATAAACACACATACGTGTATATGTGTATATAAACACACATACGTG TATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACATA CGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACA CACATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATA TAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTATATG TGTATATAAACACACATACGTGTATATGTGTATATAAACACACATACGTG TATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACACA TACGTGTATATGTGTATATAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02965.hp1 HG02280.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0030 a0001c0001t0002g0027 a0001c0001t0002g0030	2	276	0.0073	470	c.494 others(489): Show c.494+25816_494+25817insATATAAACACATACGTGTATATGTGT ATATAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTAT ATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACACATAC GTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACAC ATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAA ACACACATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGT ATATAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTAT ATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACACATAC GTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACAC ACATACGTGTATATGTGTATATAAACACATACGTGTATATGTGT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
SAMD12_chr8_118372984_118626963	118469545	T T	TATAATAT others(463): Show TATAATATATAATATATAATATATATTATATATAATATATTATATATAAT ATATTATATATTATATATAATATATATTATATATTATATATAATATATAA TATATTATATATAATATAATATATATTATATATAATATATAATATATATT ATATGTTATATATAATATATATTATATGTTATATATAATATATATTATAT GTTATATGTAATATATATTATATATTATATATAATATATAATATATATTA CATATAATATATATTATATATTATATATTATATATTATATATTATATATT ATATATAATATATATTATATATTATATATAATATATAAATATATTATATA TAATATATAATATATAAATATATATTATATATTATATATAATATATAAAT ATATATTATATATATTTAATATATATTTTATATATAAATATATATTATAT ATATAATATATATTTTATATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0113 a0001c0001t0020g0113	1	188	0.0053	470	c.193 others(489): Show c.193-29585_193-29584insTATATAAAATATATATTATATATATA ATATATATTTATATATAAAATATATATTAAATATATATAATATATATTTA TATATTATATATAATATATAATATATATTTATATATTATATATTATATAT AATATATTTATATATTATATATAATATATAATATATATTATATATAATAT ATAATATATAATATATAATATATAATATATAATATATATTATATGTAATA TATATTATATATTATATATAATATATAATATATATTACATATAACATATA ATATATATTATATATAACATATAATATATATTATATATAACATATAATAT ATATTATATATTATATATAATATATATTATATTATATATAATATATTATA TATTATATATAATATATAATATATATTATATATAATATATAATATATTAT ATATAATATATTATATATAATATATATTATATATTATATATTAT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3			chr8	TogoVar
SCARA5_chr8_27864883_27997673	27919123	A A	AGAAGAGG others(463): Show AGAAGAGGAGGAGAAGGAAGAAGAGGAGGAGAAGGAAGAAAGGGCAGAAG AGAAGGAGGAAGAGGAGAAAGAGGAGGAGGAGGGGAAAGAAGAGGATAAG GAAGAAAGGGAAGAGGAGAGGGAAGAAGAGGAGGAGGAGGGGAAGAAAGA GGAGGAGGAGGAGAAAAAGAGGAGGAGGAGGGGAAGGAAAAGAAGGAGGA GGAAAAGCAGGAGGAGAAGGAGGAGGAAGAGAAAAGGAGGAGGAGGGGAA GGAGGAGAAGGAGGAGGAATGGGAGGAGGAGGAGAGAATAGAGGAGGAGG AGGGAATAGAGGAGGAGGAGAGAAGGGAGGAGGAGAAGAGAAGGGAGGAG GAGAGAAGGGAGGAGGAGGAGAGAGAAGGGAGGAGAGAGGAGGAGGAGTC TCTGCTCGCAGCCCTCTTGCTCGCGCCGTGGAGCGGCGGCGCTCCGGAGG CGAGCGGAGCGTCGTCCGGCC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0007 a0001c0018t0007	a0001c0018t0007g0086 a0001c0018t0007g0086	1	314	0.0032	470	c.916 others(487): Show c.916+2447_916+2448insGGCCGGACGACGCTCCGCTCGCCTCCGG AGCGCCGCCGCTCCACGGCGCGAGCAAGAGGGCTGCGAGCAGAGACTCCT CCTCCTCTCTCCTCCCTTCTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCC CTTCTCTTCTCCTCCTCCCTTCTCTCCTCCTCCTCTATTCCCTCCTCCTC CTCTATTCTCTCCTCCTCCTCCCATTCCTCCTCCTTCTCCTCCTTCCCCT CCTCCTCCTTTTCTCTTCCTCCTCCTTCTCCTCCTGCTTTTCCTCCTCCT TCTTTTCCTTCCCCTCCTCCTCCTCTTTTTCTCCTCCTCCTCCTCTTTCT TCCCCTCCTCCTCCTCTTCTTCCCTCTCCTCTTCCCTTTCTTCCTTATCC TCTTCTTTCCCCTCCTCCTCCTCTTTCTCCTCTTCCTCCTTCTCTTCTGC CCTTTCTTCCTTCTCCTCCTCTTCTTCCTTCTCCTCCTCTTC	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCUBE1_chr22_43192280_43348372	43339677	C C	CTCTATCC others(463): Show CTCTATCCCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCACTC TATGCCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCACTCTAT CCCCCCACAAGCATCACTCCAGCCCTCCCCCACTCTCCTCACTCTATGCC CCCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCATTCTATCCCCCC ACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCATTCTACCCCCCACAA GCATAGCTCCAACCCTCCCCCCACTCTCCTCATTCTATCCCCCCACAAGC ATTGCTTCAACCCTCCCCCACGCTCCTCATTCTATCCCCCCACAAGCATT GCTCCAACCCTCCCCCACTCTCCTCATTCTACCCCCCACAAGCATAGCTC CAACCCTCCCCCCACTCTCCTCATTCTATCCCCCCACAAGCATTGCTTCA ACCCTCCCCCACGCTCCTCAT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0117 a0002c0002t0002g0117	1	280	0.0036	470	c.89- others(483): Show c.89-443_89-442insATGAGGAGCGTGGGGGAGGGTTGAAGCAATGC TTGTGGGGGGATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTT GTGGGGGGTAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAATGCTTGTGG GGGGATAGAATGAGGAGCGTGGGGGAGGGTTGAAGCAATGCTTGTGGGGG GATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGT AGAATGAGGAGAGTGGGGGAGGGTTGGAGCAATGCTTGTGGGGGGATAGA ATGAGGAGAGTGGGGGAGGGTTGGAGCAATGCTTGTGGGGGCATAGAGTG AGGAGAGTGGGGGAGGGCTGGAGTGATGCTTGTGGGGGGATAGAGTGAGG AGAGTGGGGGAGGGTTGGAGCAATGCTTGTGGGGGCATAGAGTGAGGAGA GTGGGGGAGGGTTGGAGCAATGCTTGTGGGGGGATAGA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SLC8A1_chr2_40092270_40457090	40200228	A A	ATATATAT others(463): Show ATATATATAAATATATATATATATTTATATATATATATAAATATATATAT ATATTTATATATATATATAAATATATATATATATTTATATATATATATAA ATATATATATATATTTATATATATATATAAATATATATATATATTTATAT ATATATATAAATATATATATATATTTATATATATATATAAATATATATAT ATATTTATATATATATATAAATATATATATATATTTATATATATATATAA ATATATATATATATTTATATATATATATAAATATATATATATATTTATAT ATATATATAAATATATATATATATTTATATATATATAAATATATATATAT ATTTATATATATATAAATATATATATATATTTATATATATATATAAATAT ATATATATATTTATATATATATATAAATATATATATATTTTTTTATATAT ATATATAAATATATATATATT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0113 a0001c0001t0113	a0001c0001t0113g0047 a0001c0001t0113g0047	1	236	0.0042	470	c.180 others(491): Show c.1809-21736_1809-21735insAATATATATATATTTATATATATA TATAAAAAAATATATATATATTTATATATATATATAAATATATATATATA TTTATATATATATATAAATATATATATATATTTATATATATATAAATATA TATATATATTTATATATATATAAATATATATATATATTTATATATATATA TAAATATATATATATATTTATATATATATATAAATATATATATATATTTA TATATATATATAAATATATATATATATTTATATATATATATAAATATATA TATATATTTATATATATATATAAATATATATATATATTTATATATATATA TAAATATATATATATATTTATATATATATATAAATATATATATATATTTA TATATATATATAAATATATATATATATTTATATATATATATAAATATATA TATATATTTATATATATATATAAATATATATATATATTTATATATA	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar

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