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
MTTP_chr4_99569824_99628997	99588981	A A	ACATATAT others(477): Show ACATATATATGTTCATATATATATTCATATATATATGTTCATGTATATTC ATATATATATGTTCATATATATATTCATATATATGTTCATATATATATTC ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA19066.hp2 NA19080.hp2 NA18975.hp2 NA19066.hp2 NA19080.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0008 a0004c0004t0001g0076 a0004c0004t0001g0008 a0004c0004t0001g0076	3	170	0.0176	484	c.394 others(499): Show c.394-653_394-652insGTTCATATATATATTCATATATATATGTTC ATGTATATTCATATATATATGTTCATATATATATTCATATATATGTTCAT ATATATATTCATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MYNN_chr3_169768396_169794716	169770602	A A	AATATATA others(477): Show AATATATAAAAATTTATATTTATATATCATAAATATATAAAAATTTATAT TTATATATCATAAATAAAAATTTATATTTATATATCATAAATAAAAATTT ATATTTATATATCATAAATAAAAATTTATATTTATATATCATATATAAAA ATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATAT AAAAATTTATATTTATATATCATATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC ATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATATATC ATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATA TATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATT TATATATCATATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0004	1	196	0.0051	484	c.-28 others(495): Show c.-2892_-2891insATATATAAAAATTTATATTTATATATCATAAATA TATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTTATATAT CATAAATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTTAT ATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATAT TTATATATCATATATAAAAATTTATATTTATATATCATATAAAAATTTAT ATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAAT TTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATAA AAATTTATATATATCATATATAAAAATTTATATTTATATATCATATATAA AAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2793		chr3	TogoVar
NCOR2_chr12_124319415_124572612	124438778	C C	CAGAGAGA others(477): Show CAGAGAGAGAGAGAGAGAGAGAGAGACGGAGACCCAGAGAGACAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACGGA GACCCAGAGAGAGGGAGACAGAGACCCAGAGACAGAGGGAGACAGAGACC CAGAGACAGAGGAAGACAGAGACCCAGAGAGAGGGAGACAGAGACCCAGA GAGAGAGAGACGGAGACCCAGAGACAGAGGGAGAGAGAGACCCAGAGACA GAGGGAGACAGAGACCCAGAGAGAGAGAGATGGAGACCCTGAGACAGAGG GAGACAGAGACCCAGAGAGAGAAACAGAGACCCAGAGACAGAGGGAGAGA CAGAGACCCAGAGACAGAGACCCAGAGAGACAGGGAAACAGAGAACCAGA GAGAGAGAGAGAGACAGAGACCCAGAGAGACAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGACAGAGACCCAGAGAGACAGAGAG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0076 a0002c0006t0076	a0002c0006t0076g0179 a0002c0006t0076g0179	1	40	0.0250	484	c.816 others(499): Show c.816-783_816-782insCTCTCTGTCTCTCTGGGTCTCTGTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTGGGTCTCTGTCTCTCTCT CTCTCTCTGGTTCTCTGTTTCCCTGTCTCTCTGGGTCTCTGTCTCTGGGT CTCTGTCTCTCCCTCTGTCTCTGGGTCTCTGTTTCTCTCTCTGGGTCTCT GTCTCCCTCTGTCTCAGGGTCTCCATCTCTCTCTCTCTGGGTCTCTGTCT CCCTCTGTCTCTGGGTCTCTCTCTCCCTCTGTCTCTGGGTCTCCGTCTCT CTCTCTCTGGGTCTCTGTCTCCCTCTCTCTGGGTCTCTGTCTTCCTCTGT CTCTGGGTCTCTGTCTCCCTCTGTCTCTGGGTCTCTGTCTCCCTCTCTCT GGGTCTCCGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTGTCTCTCTGGGTCTCCGTCTCTCTCTCTCTCTCTCTCT CTCT	NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding	9/48			chr12	TogoVar
NDUFV3_chr21_42888309_42918299	42894401	T T	TAATATAA others(477): Show TAATATAATATATATAAATATATAATATATATAATATATATTATATATAA ATATATAATATATATTATATATTATATATATTATAATATATAATATATAT TATATATTATATATATTATAATATATAATATATATAATATATATTATATA TTATATATATATAATATATAATATATATTATATATAAATATATAATATAT AATATATATTATATATATATTATATAATATATAATATATTATATATATTA TATAATATATTGTATATTATATAATATATAATATATAATATATATTATAT ATAAATATATAATATATAATATAATATATAATATATTATATATATTATAT TATATATATTATATTATATATAATATATTATATATTATATATTTATATAT AATATATATAATATATATTATATATTATATAATATATAATATATTATATA TTATATATTATATATAATATATTATATAATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0044 a0003c0004t0044	a0003c0004t0044g0071 a0003c0004t0044g0071	1	202	0.0050	484	c.48+ others(499): Show c.48+1020_48+1021insAATATAATATATATAAATATATAATATATA TAATATATATTATATATAAATATATAATATATATTATATATTATATATAT TATAATATATAATATATATTATATATTATATATATTATAATATATAATAT ATATAATATATATTATATATTATATATATATAATATATAATATATATTAT ATATAAATATATAATATATAATATATATTATATATATATTATATAATATA TAATATATTATATATATTATATAATATATTGTATATTATATAATATATAA TATATAATATATATTATATATAAATATATAATATATAATATAATATATAA TATATTATATATATTATATTATATATATTATATTATATATAATATATTAT ATATTATATATTTATATATAATATATATAATATATATTATATATTATATA ATATATAATATATTATATATTATATATTATATATAATATATTATATAATA TATA	NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	1/3			chr21	TogoVar
NFATC4_chr14_24363184_24384601	24364746	A A	ATATATAT others(477): Show ATATATATAGTATATCTGTGTATATGCTATATAGTATAGTGTATAGTATA TCTGTGTATATATAGTATATCTGTACATATATACATATATAGTATATATA TAGTATATCTGTGTATATGCTATATAGTATAGTGTATAGTATATCTGTGT ATATATAGTATATCTGTACATATATACATATATAGTATATATATAGTATA TCTGTACATATATACATATATAGTATATATATAGTATATCTGTGTATATG CTATATAGTATAGTGTATAGTATATCTGTGTATATATAGTATATCTGTAC ATATATACATATATAGTATATATATAGTATATCTGTACATATATACATAT ATAGTATATATATAGTATATCTGTACATATATACATATATAGTATATATA TAGTATATCTGTGTATATGCTATATAGTATAGTGTATAGTATATCTGTGT ATATATAGTATATCTGTACATATATACATATATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0007 a0003c0004t0006g0007	1	335	0.0030	484	c.-35 others(495): Show c.-3595_-3594insTATATATAGTATATCTGTGTATATGCTATATAGT ATAGTGTATAGTATATCTGTGTATATATAGTATATCTGTACATATATACA TATATAGTATATATATAGTATATCTGTGTATATGCTATATAGTATAGTGT ATAGTATATCTGTGTATATATAGTATATCTGTACATATATACATATATAG TATATATATAGTATATCTGTACATATATACATATATAGTATATATATAGT ATATCTGTGTATATGCTATATAGTATAGTGTATAGTATATCTGTGTATAT ATAGTATATCTGTACATATATACATATATAGTATATATATAGTATATCTG TACATATATACATATATAGTATATATATAGTATATCTGTACATATATACA TATATAGTATATATATAGTATATCTGTGTATATGCTATATAGTATAGTGT ATAGTATATCTGTGTATATATAGTATATCTGTACATATATACATATATAG	NFATC4	ENSG00000100968.14	transcript	ENST00000250373.9	protein_coding		3437		chr14	TogoVar
NHLRC4_chr16_562005_574495	571084	T T	TGTGTGTG others(477): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTG TGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTG TGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTG TGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTG TGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGCC TGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGC CTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGCTAGCCTTGTGTGTGTGT GTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCT AGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	484	c.26 others(495): Show c.2665_*2666insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGC TAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGC TAGCCTGTGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGT GTGTATGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCC TGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGT GGCTAGCCTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTG GTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGCTA GCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTG TGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCC	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1590		chr16	TogoVar
NHLRC4_chr16_562005_574495	571108	T T	TGTGTGTG others(477): Show TGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTG TGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTG TGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATG TGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCC CGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGC CTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCG TGGCTAGCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGCTAGCCTTGT GTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGT GTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTG TGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	350	0.0029	484	c.26 others(495): Show c.2689_*2690insGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTG TGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTG TGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCC GTGTGTGTGTGTATGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGT GGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTG GCTCCCGTGGCTAGCCTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGG CTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGGGGGG GGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCT AGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCC TGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCC	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1614		chr16	TogoVar
NLRP5_chr19_55994726_56066810	56036058	C C	CTTTTTTT others(477): Show CTTTTTTTTTTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGCC CAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCATTGCAAGCCCCACCTCC TGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTAAGTAGCTAGGACTACA GGCGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTTTAAGTAGAG ACAGGGTTTCACCAGGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTG ATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCAC TGCGCCTGGCTGAGATTCTTTCATTCAATAACGACAGATGCTTGATTCTG CGTATAGTACATGTTCCAGGGATGTGCTGATGAATGAAACGAGATTCTTT GATTCAATAACGACAGATGCTTGATTTTGCATGTAGTACTACGACATGTT CCTGGGACATGCTGATGAATGAATTGAGATTCTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02647.hp2 HG02451.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0365 a0001c0002t0001g0382 a0001c0002t0001g0365 a0001c0002t0001g0382	2	137	0.0146	484	c.261 others(503): Show c.2616-1945_2616-1944insTTGGAGACAGAGTCTTGCTCTGTTGC CCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCATTGCAAGCCCCACCTC CTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTAAGTAGCTAGGACTAC AGGCGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTTTAAGTAGA GACAGGGTTTCACCAGGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGT GATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCA CTGCGCCTGGCTGAGATTCTTTCATTCAATAACGACAGATGCTTGATTCT GCGTATAGTACATGTTCCAGGGATGTGCTGATGAATGAAACGAGATTCTT TGATTCAATAACGACAGATGCTTGATTTTGCATGTAGTACTACGACATGT TCCTGGGACATGCTGATGAATGAATTGAGATTCTTTTTTTTTTTTTTTTT TTTTTTTT	NLRP5	ENSG00000171487.16	transcript	ENST00000390649.8	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
NOC4L_chr12_132139457_132157468	132149270	C C	CACCACAC others(477): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCC CTCGGTGAGTGCGGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCT CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCATACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	239	0.0042	484	c.901 others(499): Show c.901+413_901+414insACTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCC TCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTC ACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCC TAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCC CCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGG TGAGTGCGGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150140	G G	GCTCACAC others(477): Show GCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACA CCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTA ATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTC ACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCACACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCA	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0126 a0004c0007t0001g0126	1	242	0.0041	484	c.902 others(499): Show c.902-763_902-762insGGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCA CTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACAC CCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCACACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGA GTGC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150321	C C	CACCACAC others(477): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCC CTCGGTGAGTGCGGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCACTCATACCACACCCCTAATCCCCTCGGTGAGTGC GGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACT CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACC ACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCCTACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	251	0.0040	484	c.902 others(499): Show c.902-622_902-621insACTCCTACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCC TCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTC ATACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCACACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCC CCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGG TGAGTGCGGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150351	C C	CGCCGCCT others(477): Show CGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGC CTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCT CCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0003 a0003	a0003c0028 a0003c0028	a0003c0028t0001 a0003c0028t0001	a0003c0028t0001g0201 a0003c0028t0001g0201	1	268	0.0037	484	c.902 others(499): Show c.902-618_902-617insCTACCACACCCCTAATCCCCTCGGTGAGTG CGGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCGGCCG CCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGC TCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACAC CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACC CCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAAT CCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTC GGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAG TGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCGGC CGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTC GCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150747	C C	CGCCGCCT others(477): Show CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCG GTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGT GCGGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCA CTCACACCACACCCCTAATCCCCTCGGTGAGTGCG	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0141 a0001c0003t0001g0141	1	190	0.0053	484	c.902 others(499): Show c.902-217_902-216insACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACA CCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCT CGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGA GTGCGGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCG CCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCT CACTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCA CACC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NRCAM_chr7_108142649_108461436	108163994	C C	CGGTAATG others(477): Show CGGTAATGAGAGGTCATACCAGGTGGGGTGGGGTAGTGAGAGGTCATACC GGGTGGGGTGGGGTAATGAGAGGTCATACCGGGTGGGGTGGCGGTAATGA GAGGTCATACCGGGTGGGGTGGGGTAATGAGAGGTCATACCAGGTGGGGT GGGGTAGTGAGAGGTCATACCAGGTGGGGTGGGGTAGTGAGAGGTCATAC CGGGTGGGGTGGCGGTAATGAGAGGTCATACCGGGTGGGGTGGGGTAGTG AGAGGTCATACCGGGTGGGGTGGGGTAGTGAGAGGTCATACCGGGTGGGG TGGGGTAGTGAGAGGTCATACCGGGTGGGGTGGCGGTAATGAGAGGTCAT ACCAGGTGGGGTGGGGTAGTGAGAGGTCATACCAGGTGGGGTGGGGTAGT GAGAGGTCATACCGGGTGGGGTGGGGTAATGAGAGGTCATACCGGGTGGG GTGGCAGTAATGAGAGGTCATACCGGGTGGGGTGG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0003 a0001c0012t0003	a0001c0012t0003g0144 a0001c0012t0003g0144	1	186	0.0054	484	c.346 others(503): Show c.3466+2926_3466+2927insCCACCCCACCCGGTATGACCTCTCAT TACTGCCACCCCACCCGGTATGACCTCTCATTACCCCACCCCACCCGGTA TGACCTCTCACTACCCCACCCCACCTGGTATGACCTCTCACTACCCCACC CCACCTGGTATGACCTCTCATTACCGCCACCCCACCCGGTATGACCTCTC ACTACCCCACCCCACCCGGTATGACCTCTCACTACCCCACCCCACCCGGT ATGACCTCTCACTACCCCACCCCACCCGGTATGACCTCTCATTACCGCCA CCCCACCCGGTATGACCTCTCACTACCCCACCCCACCTGGTATGACCTCT CACTACCCCACCCCACCTGGTATGACCTCTCATTACCCCACCCCACCCGG TATGACCTCTCATTACCGCCACCCCACCCGGTATGACCTCTCATTACCCC ACCCCACCCGGTATGACCTCTCACTACCCCACCCCACCTGGTATGACCTC TCATTACC	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	30/32			chr7	TogoVar
ODF3_chr11_191761_205258	196197	G G	GGGGACCT others(477): Show GGGGACCTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTG AGGGGACCTGGTGAGGGGACATAGGGGGACCTTGGTGAGCGGACCTGGTG AGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACATGG GGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGG TGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTG GTGAGGGGACCTGGTGAGGGGACATAGGGGGGCTTGGTGAGGGGACCTGG TGAGGGGACATGGTGAGGGGAGCATGGTGAGGGGAACATGGGTGGGGAGC CTTGGTGAGGGGACCTGGTGAGGGGACCTGCTGAGGGGACATGGGGGGGA CCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGG GACCTGGTGAGGGGACATGGGGGGGACCTTGGTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	357	0.0028	484	c.-85 others(493): Show c.-858_-857insGGGACCTGGTGAGGGGACCTGGTGAGGGGACATGGG GGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATAGGGGGACCTTGGTG AGCGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGT GAGGAGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATG GGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTG GTGAGGGGACCTGGTGAGGGGACCTGGTGAGGGGACATAGGGGGGCTTGG TGAGGGGACCTGGTGAGGGGACATGGTGAGGGGAGCATGGTGAGGGGAAC ATGGGTGGGGAGCCTTGGTGAGGGGACCTGGTGAGGGGACCTGCTGAGGG GACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGG ACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGA	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		563		chr11	TogoVar
OR6J1_chr14_22625929_22649352	22637546	G G	GCCGCCCC others(477): Show GCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCAGTCTGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGTGG GGGGATCAGCCCCCCGCCCGGCCGGCCACCCCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGC CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01123.hp2 HG00735.hp1 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0165 a0001c0001t0001g0169	2	218	0.0092	484	c.-27 others(501): Show c.-27-2709_-27-2708insGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGTGGCCGGCCGGGCGGGGGGCT GATCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCAGACTGGGCGGCCGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACG GGGCGG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OR6J1_chr14_22625929_22649352	22637546	G G	GCCGCCCC others(477): Show GCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCAGTCTGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGTGG GGGGATCAGCCCCCCGCCCGGCCGGCCACCCCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGC CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	217	0.0046	484	c.-27 others(501): Show c.-27-2709_-27-2708insACTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGTGGCCGGCCGGGCGGGGGGCT GATCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCAGACTGGGCGGCCGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACG GGGCGG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OSGIN1_chr16_83948240_83971332	83951962	C C	CCCTCCCT others(477): Show CCCTCCCTCTTCCCTTCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTCCC TGCCTCCCTCCCCCTCCCTCCTTCCCTCCCTGCCTTCCTCCCCCTTTCCC TCCCTCCCTCCTTCCCTCCTTCCTCCCTTCCTCCTTCCCTCCCTCCTCCC TTCCTCCTTCCCTCCCTCCTCCCTTCCTCCTTCCCTCCCTCCTCCTTTCC TCCTCCCCTCCATCCCTTCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTG CCTTCCACCCTCCTTCCCTCCCTCCTCCCTTCCTCCCTCCTTCCCTCCGT CCTCCCTTCCTCCCTCCCTCCCTACTTCCCTCCCTCCCTGCCTCCCTCCT TCCCTCCCTCCCTGCCTCCCTCCTTTCCTCCCTCCCTCCTTCCCTCCCTC CCTGCCTTCCTCCCTCCTTCCTTCCCTCCCCTCCCTGCCTCCCTCCTTCC CTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0135 a0002c0005t0001g0135	1	61	0.0164	484	c.-14 others(495): Show c.-1441_-1440insCCTCCCTCTTCCCTTCCTCCTTCCCTCCCTCCCT CCTTCCCTCCCTCCCTGCCTCCCTCCCCCTCCCTCCTTCCCTCCCTGCCT TCCTCCCCCTTTCCCTCCCTCCCTCCTTCCCTCCTTCCTCCCTTCCTCCT TCCCTCCCTCCTCCCTTCCTCCTTCCCTCCCTCCTCCCTTCCTCCTTCCC TCCCTCCTCCTTTCCTCCTCCCCTCCATCCCTTCCTCCTTCCCTCCCTCC CTCCTTCCCTCCCTGCCTTCCACCCTCCTTCCCTCCCTCCTCCCTTCCTC CCTCCTTCCCTCCGTCCTCCCTTCCTCCCTCCCTCCCTACTTCCCTCCCT CCCTGCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTTCCTCCCTCC CTCCTTCCCTCCCTCCCTGCCTTCCTCCCTCCTTCCTTCCCTCCCCTCCC TGCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTG	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		1277		chr16	TogoVar
PAK2_chr3_196734857_196837647	196811297	C C	CTCCCTTC others(477): Show CTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTTCCTTCCT TCCCTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCTT CCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCCTCCCTCC CTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCCTCCCTTCCCTCCCTTCC CTCCCTCCCTTCCTTCCCTTCCTTTCCTTCCTTCCCTCCCTTCCTTCCCT TCCCTCCCTTCCTTCCCTTCCTTTCCTTCCTTTCCTTCCTTCCTTCCCTT CCCTCCCTTCCTTCCCTCCCTCCCCTCCCTTCCCTCCCTTCCCTCCCTCC CTTCCTTCCCTTCCTTTCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCC TTCCTTCCCTTCCTTTCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCT TCCTTCCCTTCCTTTCCTTCCTTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0019 a0001c0004t0019	a0001c0004t0019g0061 a0001c0004t0019g0061	1	131	0.0076	484	c.773 others(499): Show c.773+652_773+653insCTCCCTTCCTTCCCTCCCTTCCTTCCCTTC CTTTCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTTCC CTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCT TCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCCTCCCTT CCCTCCCTTCCCTCCCTCCCTTCCTTCCCTTCCTTTCCTTCCTTCCCTCC CTTCCTTCCCTTCCCTCCCTTCCTTCCCTTCCTTTCCTTCCTTTCCTTCC TTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTCCCCTCCCTTCCCTCCCT TCCCTCCCTCCCTTCCTTCCCTTCCTTTCCTTCCTTCCCTCCCTTCCTTC CCTTCCCTCCCTTCCTTCCCTTCCTTTCCTTCCTTTCCTTCCTTCCTTCC CTTCCCTCCCTTCCTTCCCTTCCTTTCCTTCCTTTCCTTCCTTCCTTCCC TTCC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PCED1A_chr20_2830314_2845655	2842868	A A	AGATAGAT others(477): Show AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	321	0.0031	484	c.-26 others(495): Show c.-2680_-2679insGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGA TAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATA GATACATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTA TCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATC TATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTA TCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2214		chr20	TogoVar
PDXK_chr21_43714129_43767299	43741153	C C	CGGGGGGC others(477): Show CGGGGGGCTGGCGGGGGGCTCGCGGGGGGGCTGGCGGGGGGCTCGCGGGG GGGCTGGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTC GCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCG GGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGG CTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGC GGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGGCTGGCGGGGG GCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGC GGGGGGCTCGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGCTCGCGGGGGG GCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGG CGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	306	0.0033	484	c.143 others(499): Show c.143-506_143-505insGGCGGGGGGCTCGCGGGGGGGCTGGCGGGG GGCTCGCGGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTC GCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGG GGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGG CTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGC GGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGG GCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGC GGGGGGCTGGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTGGCGGGGGG CTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCG CGGGGGGCTGGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGG GGCT	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PIGQ_chr16_564968_589109	571084	T T	TGTGTGTG others(477): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTG TGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTG TGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTG TGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTG TGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGCC TGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGC CTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGCTAGCCTTGTGTGTGTGT GTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCT AGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCC	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0012 a0012	a0012c0012 a0012c0012	a0012c0012t0001 a0012c0012t0001	a0012c0012t0001g0043 a0012c0012t0001g0043	1	385	0.0026	484	c.-10 others(501): Show c.-10+1012_-10+1013insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGT GTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGT GTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGT GTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGT GTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGT GTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTG GTGCCCGTGTGTGTGTGTGGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTC TGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGC CTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGT GTGTGT	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PIGQ_chr16_564968_589109	571108	T T	TGTGTGTG others(477): Show TGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTG TGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTG TGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATG TGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCC CGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGC CTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCG TGGCTAGCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGCTAGCCTTGT GTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGT GTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTG TGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCC	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18979.hp2 NA18973.hp2 NA18979.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0025 a0002c0001t0001g0213 a0002c0001t0001g0025 a0002c0001t0001g0213	2	321	0.0062	484	c.-10 others(501): Show c.-10+1012_-10+1013insGTGTGTGTGTGTGTCTGGCTAGCCTGTG TGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTG TGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGTCTGGCTAGCCTG GTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTCTGGCTAGCCTGGC GCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCT AGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGTGTGTGTGTGTGTATGT GTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGT GGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGT CTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGG CTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTG GCACCC	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10			chr16	TogoVar
PIGQ_chr16_564968_589109	571108	T T	TGTGTGTG others(477): Show TGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTG TGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTG TGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATG TGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCC CGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGC CTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCG TGGCTAGCCTGGTGCCCGTGTGTGTGTGTGTGGGGGGGGGCTAGCCTTGT GTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGT GTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTG TGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0215 a0002c0001t0001g0215	1	320	0.0031	484	c.-10 others(501): Show c.-10+1012_-10+1013insGTGTGTGTGTGTGTCTGGCTAGCCTGTG TGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTG TGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGTCTGGCTAGCCTG GTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTCTGGCTAGCCTGGC GCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCT AGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGTGTGTGTGTGTGTATGT GTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGT GTGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGT CTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGG CTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTG GCACCC	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10			chr16	TogoVar
PLAUR_chr19_43643579_43675169	43665713	C C	CCAGGCTG others(477): Show CCAGGCTGGAGTGCAGTGGCACTATCTCAGCTCACTACAACCGCTGCCTC ATGGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCAAGCAGCTGGGACTAC AGGCACATGCCATCACACTTGGCTAATAATTAATGTTTTAAGAGACAAGG TATTGGCTGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTGGGAGGCT GAGGCAGGCAGATCATGAGGTCAGGAGCTCGAGATCATCCTGGCTAACAC GGTGAAACCCCGTCTTTACTAAAAGTACAAAAAAATCACTGGGTGTGGTG GCATGCGCCTGTAGTCCCAACTACTTGGGAGGCTGAGGCAGGAGAATCAC TTGAACCTGGGAGGCAGAGGTTGCAGTGGGCTGAGATTGTACCACTGCAC TCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAGAAAAG AAAAAAAAAAAGAGACAGGGTATCACTCTGTCACT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	335	0.0030	484	c.167 others(499): Show c.167-255_167-254insAGTGACAGAGTGATACCCTGTCTCTTTTTT TTTTTCTTTTCTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGG CTGGAGTGCAGTGGTACAATCTCAGCCCACTGCAACCTCTGCCTCCCAGG TTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGACTACAGGCG CATGCCACCACACCCAGTGATTTTTTTGTACTTTTAGTAAAGACGGGGTT TCACCGTGTTAGCCAGGATGATCTCGAGCTCCTGACCTCATGATCTGCCT GCCTCAGCCTCCCAGTGCTGGGATTACAGGCCTGAGCCACCGCACCCAGC CAATACCTTGTCTCTTAAAACATTAATTATTAGCCAAGTGTGATGGCATG TGCCTGTAGTCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCACCTGAA CCCATGAGGCAGCGGTTGTAGTGAGCTGAGATAGTGCCACTGCACTCCAG CCTG	PLAUR	ENSG00000011422.12	transcript	ENST00000340093.8	protein_coding	2/6			chr19	TogoVar
PLCXD1_chrX_276381_308356	280328	A A	AGGCAGAG others(477): Show AGGCAGAGGGGAAGACGTGCAGGGGGAGGGGAGGCCGTGCAGGAGGAGGG GAGGCCGTGCAGGGGGCAGCGGAGGCCGTGCAGGGGGAAGGGAGGCCGTG CAGGGGGAAGGGAGGCCGTGCAGGCGGAGGGGGGTACGTGCAGGGGGCAG CGGAGGCCGTGCAGGGGGAGGGGAGGCCGTGCAGGGGGAAGGGGGGCCGT GCAGGGGGAAGGGGGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGGGGAA GGGAGGCCGTGCAGGCAGAGGGGAAGACGTGCAGGCGGAGCGGGGGCCGT GCAGGCGGAGGGGGGTACGTGCAGGGGGCAGCGGAGGCCGTGCAGGGGGA GGGGAGGCCGTGCAGGGGGAAGGGGGGCCGTGCAGGGGGAAGGGAGGCCG TGCAGGGGGAAGGGGGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGGGGA AGGGAGGCCGTGCAGGCGGAGGGGGGTACGTGCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG01496.hp1 HG02056.hp1 others(7): Show HG00735.hp2 HG01496.hp1 HG02056.hp1 HG02148.hp2 HG02293.hp2 NA18948.hp1 NA18964.hp1 NA18969.hp1 NA18980.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0009 a0001c0001t0028 a0001c0001t0030 others(5): Show a0001c0001t0009 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0034 a0001c0001t0040 a0001c0003t0038	a0001c0001t0009g0068 a0001c0001t0009g0070 a0001c0001t0009g0077 others(7): Show a0001c0001t0009g0068 a0001c0001t0009g0070 a0001c0001t0009g0077 a0001c0001t0028g0066 a0001c0001t0030g0064 a0001c0001t0031g0014 a0001c0001t0032g0063 a0001c0001t0034g0067 a0001c0001t0040g0065 a0001c0003t0038g0005	10	170	0.0588	484	c.-13 others(495): Show c.-1378_-1377insGGCAGAGGGGAAGACGTGCAGGGGGAGGGGAGGC CGTGCAGGAGGAGGGGAGGCCGTGCAGGGGGCAGCGGAGGCCGTGCAGGG GGAAGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCGGAGGGGGGT ACGTGCAGGGGGCAGCGGAGGCCGTGCAGGGGGAGGGGAGGCCGTGCAGG GGGAAGGGGGGCCGTGCAGGGGGAAGGGGGGCCGTGCAGGGGGAAGGGAG GCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCAGAGGGGAAGACGTGCAGG CGGAGCGGGGGCCGTGCAGGCGGAGGGGGGTACGTGCAGGGGGCAGCGGA GGCCGTGCAGGGGGAGGGGAGGCCGTGCAGGGGGAAGGGGGGCCGTGCAG GGGGAAGGGAGGCCGTGCAGGGGGAAGGGGGGCCGTGCAGGGGGAAGGGA GGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCGGAGGGGGGTACGTGCAG	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		1052		chrX	TogoVar
PLCXD1_chrX_276381_308356	280328	A A	AGGCAGAG others(477): Show AGGCAGAGGGGAAGACGTGCAGGGGGAGGGGAGGCCGTGCAGGAGGAGGG GAGGCCGTGCAGGGGGCAGCGGAGGCCGTGCAGGGGGAAGGGAGGCCGTG CAGGGGGAAGGGAGGCCGTGCAGGCGGAGGGGGGTACGTGCAGGGGGCAG CGGAGGCCGTGCAGGGGGAGGGGAGGCCGTGCAGGGGGAAGGGGGGCCGT GCAGGGGGAAGGGGGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGGGGAA GGGAGGCCGTGCAGGCAGAGGGGAAGACGTGCAGGCGGAGCGGGGGCCGT GCAGGCGGAGGGGGGTACGTGCAGGGGGCAGCGGAGGCCGTGCAGGGGGA GGGGAGGCCGTGCAGGGGGAAGGGGGGCCGTGCAGGGGGAAGGGAGGCCG TGCAGGGGGAAGGGGGGCCGTGCAGGGGGAAGGGGGGCCGTGCAGGGGGA AGGGAGGCCGTGCAGGCGGAGGGGGGTACGTGCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0039 a0001c0003t0039	a0001c0003t0039g0005 a0001c0003t0039g0005	1	161	0.0062	484	c.-13 others(495): Show c.-1378_-1377insGGCAGAGGGGAAGACGTGCAGGGGGAGGGGAGGC CGTGCAGGAGGAGGGGAGGCCGTGCAGGGGGCAGCGGAGGCCGTGCAGGG GGAAGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCGGAGGGGGGT ACGTGCAGGGGGCAGCGGAGGCCGTGCAGGGGGAGGGGAGGCCGTGCAGG GGGAAGGGGGGCCGTGCAGGGGGAAGGGGGGCCGTGCAGGGGGAAGGGAG GCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCAGAGGGGAAGACGTGCAGG CGGAGCGGGGGCCGTGCAGGCGGAGGGGGGTACGTGCAGGGGGCAGCGGA GGCCGTGCAGGGGGAGGGGAGGCCGTGCAGGGGGAAGGGGGGCCGTGCAG GGGGAAGGGAGGCCGTGCAGGGGGAAGGGGGGCCGTGCAGGGGGAAGGGG GGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCGGAGGGGGGTACGTGCAG	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		1052		chrX	TogoVar
PLCXD1_chrX_276381_308356	280359	G G	GGGCCGTG others(477): Show GGGCCGTGCAGGCAGAGGGGAAGACGTGCAGGGGGAGGGGAGGCCGTGCA GGAGGAGGGGAGGCCGTGCAGGGGGCAGCGGAGGCCGTGCAGGGGGAAGG GAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCGGAGGGGGGTACGTGC AGGGGGCAGCGGAGGCCGTGCAGGGGGAGGGGAGGCCGTGCAGGGGGAAG GGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCAGAGGGGAAGACGTG CAGGCGGAGCGGGGGCCGTGCAGGCGGAGGGGGGTACGTGCAGGGGGCAG CGGAGGCCGTGCAGGGGGAGGGGAGGCCGTGCAGGGGGAAGGGGGGCCGT GCAGGGGGAAGGGAGGCCGTGCAGGGGGAAGGGGGGCCGTGCAGGGGGAA GGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCGGAGGGGGGTACGT GCAGGGGGCAGCGGAGGCCGTGCAGGGGGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0081 a0001c0001t0081	a0001c0001t0081g0061 a0001c0001t0081g0061	1	87	0.0115	484	c.-13 others(495): Show c.-1347_-1346insGGCCGTGCAGGCAGAGGGGAAGACGTGCAGGGGG AGGGGAGGCCGTGCAGGAGGAGGGGAGGCCGTGCAGGGGGCAGCGGAGGC CGTGCAGGGGGAAGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCG GAGGGGGGTACGTGCAGGGGGCAGCGGAGGCCGTGCAGGGGGAGGGGAGG CCGTGCAGGGGGAAGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGC AGAGGGGAAGACGTGCAGGCGGAGCGGGGGCCGTGCAGGCGGAGGGGGGT ACGTGCAGGGGGCAGCGGAGGCCGTGCAGGGGGAGGGGAGGCCGTGCAGG GGGAAGGGGGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGGGGAAGGGGG GCCGTGCAGGGGGAAGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGG CGGAGGGGGGTACGTGCAGGGGGCAGCGGAGGCCGTGCAGGGGGAGGGGA	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		1021		chrX	TogoVar
PLEKHG4B_chr5_87168_194966	92369	G G	GGCGCGGG others(477): Show GGCGCGGGGGTAGGGGCGGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGG GGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGG GCGCGGGGGTAGGGGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGG GCGCGGGGGCAGGGGTGGGGTGGGGGCGCGAGCGGACGCGGGAGTAGGGG CGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTG GGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCCGGAGTAGGGGCG GGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCGAGCGGACGCGGGA GTAGGGGCGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGT AGGGGTGGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTA GGGGTGGGGTGGGGGCGCGGGGGTAGGGGTGGGGT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0031 a0031	a0031c0060 a0031c0060	a0031c0060t0020 a0031c0060t0020	a0031c0060t0020g0187 a0031c0060t0020g0187	1	2	0.5000	484	c.45+ others(495): Show c.45+94_45+95insCGCGGGGGTAGGGGCGGGGTGGGGGCGCGGGGGT AGGGGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTA GGGGTGGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCCGGAGTA GGGGCGGGTGGGGGGCGCGGGGGCAGGGGTGGGGTGGGGGCGCGAGCGGA CGCGGGAGTAGGGGCGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCG CGGGGGTAGGGGTGGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCG CCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGC GAGCGGACGCGGGAGTAGGGGCGGGTGGGGGCGCCGGGGTAGGGGCGGGT GGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCCGGGGTAGGGGCGGGTG GGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCGGGGGTAGGGGTGGGGTG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PRPF31_chr19_54110754_54136713	54133923	C C	CCCCTCCC others(477): Show CCCCTCCCTCTCTCCACCTTCCCCTCCCCTCCTCCCTCCCTCCCTCTCTC CACCTCCCCTCTCTCCACCTCCCCTCTCTCTCCTCCCTCCCTCTCTCCAC CTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCT CCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTCT CTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCA CCTCCCCTCTCTCTCTCCCTCCCTCTCTCCTCCACCTCCCCTCTCTCTCT CCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCTCCACCTCC CCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCT CCACCTCCCCTCTCTCCACCTCCCCTCACTCCACCTTCCCTCTCTCCACC TCCCCCTCCCTCTCTCCACCTTCCCCTCTCTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	204	0.0049	484	c.24 others(495): Show c.2491_*2492insCCCTCCCTCTCTCCACCTTCCCCTCCCCTCCTCC CTCCCTCCCTCTCTCCACCTCCCCTCTCTCCACCTCCCCTCTCTCTCCTC CCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCC CCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCT CTCCACCTTCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCT CTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCTCCAC CTCCCCTCTCTCTCTCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTC CCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTC TCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCACCTCCCCTCACTCCACC TTCCCTCTCTCCACCTCCCCCTCCCTCTCTCCACCTTCCCCTCTCTCCCT	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2211		chr19	TogoVar
RAB11FIP3_chr16_420649_528011	468030	G G	GTCAGGGA others(477): Show GTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGAGGCCTCAGG GAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAG GTGCAGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAG GGAAGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGCGT CAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGA GGAGGTGCAGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGT GCAGGGAAGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGG GCGTCAGGGAGGAGGTGCAGGGAAGTCAGGGAGGAGGTGCAGGGGCGTCA GGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCAGGGACGTCAGGGAGG AGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGACC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03041.hp2 HG02976.hp1 HG03041.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0011 a0004c0007t0022 a0001c0001t0011 a0004c0007t0022	a0001c0001t0011g0079 a0004c0007t0022g0185 a0001c0001t0011g0079 a0004c0007t0022g0185	2	248	0.0081	484	c.809 others(501): Show c.809-3250_809-3249insTGGGGCGTCAGGGAGGAGGTGCTGAGGC CTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGG GAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAG GTGCAGGGAAGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAG GGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGCGT CAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGA GGAGGTGCAGGGAAGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGT GCAGGGGCGTCAGGGAGGAGGTGCAGGGAAGTCAGGGAGGAGGTGCAGGG GCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCAGGGACGTCA GGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGACCTCAGGGAGG AGGTGC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RETNLB_chr3_108750638_108762410	108759540	T T	TATGTATG others(477): Show TATGTATGTGTATGCATACATATGTATGTGTATGCATACATATGTATGTA TGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTATGTATG TGTATACATACGTATGTATGTATGTGTATACATACGTATGTATGTGTATA CATACATACGTATGTATGTGTACACATACGTATGTATGTGTACACATACA TACGTATGTATGTGTACACATACGTATGTATGTGTACACATACATACGTA TGTATGTGTACACATACGTATGTATGTGTACACATACATACGTATGTATG TGTACACATACGTATGTATGTGTACACATACATACGTATGTATGTGTACA CATACGTATGTATGTGTACACATACATATGTATGTATGTGTACACATACG TATGTATGTGTACACATACATATGTATGTATGTGTACACATACATATGTA TGTATGTGTACACATACATATGTATGTATGTGTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	444	0.0023	484	c.-23 others(495): Show c.-2356_-2355insGTACACATACATACATATGTATGTGTACACATAC ATACATATGTATGTGTACACATACATACATATGTATGTGTACACATACAT ACGTATGTGTACACATACATACATATGTATGTGTACACATACATACGTAT GTGTACACATACATACGTATGTATGTGTACACATACATACGTATGTGTAC ACATACATACGTATGTATGTGTACACATACATACGTATGTGTACACATAC ATACGTATGTATGTGTACACATACATACGTATGTGTACACATACATACGT ATGTATGTGTACACATACATACGTATGTGTACACATACATACGTATGTAT GTATACACATACATACGTATGTATACACATACATACATACGTATGTATAC ACATACATACATACGTATGTATACACATACATACATACGTATGTATACAC ATACATACATATGTATGCATACACATACATATGTATGCATACACATACAT	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2131		chr3	TogoVar
RNF213_chr17_80255852_80403794	80274587	T T	TGGGGGGT others(477): Show TGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGG GTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGGGGTGAATGTGG GGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGATGGGGGTGAGTGGG GTGAGTGTGGGGGGTGAGCGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGT GTGGGGAGTGAGTGGGGTGAGTGTGGGGTGATGGGGTGAGTGTGGGGGGT GAGGGGGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGG GGTGAGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGG GTGAGTGGGGGGTGAGTGGGGTGTCTGGGGGGTGAGTGGGGTGAGTGTGG GGGGTGAGTGGGGTGAGTGTGTGGGGTGAGTGGGGTGTCTGTGGGGGGTG AGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTG	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0089 a0089	a0089c0139 a0089c0139	a0089c0139t0001 a0089c0139t0001	a0089c0139t0001g0284 a0089c0139t0001g0284	1	85	0.0118	484	c.261 others(501): Show c.261+1222_261+1223insAGTGTGGGGGGTGAGTGGGGTGAGTGTG GGGGGTGAGTGGGGTGAGTGGGGTGAATGTGGGGTGAGTGGGGTGAGTGT GGGGGGTGAGTGGGGTGATGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAG CGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGAGTGAGTGGGGT GAGTGTGGGGTGATGGGGTGAGTGTGGGGGGTGAGGGGGGTGAGTGGGGT GTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGGGGTGAGTGTGG GGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGAGTGGGGGGTGAGTG GGGTGTCTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGT GTGTGGGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGG GGTGAGTGGGGTGAGTGGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGT GGGGTG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	3/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80355506	C C	CGGGAATG others(477): Show CGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAACGGGAATGGGGGC TTACAGGGGAAGAAGCGGGGTGAACGGGAATGGGGGCTTATGGAGGAAGA AGCGGGGTGAATGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAATG GGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCTT ACAGGGGGAAGAAGCGGGGTGGACGGGAATGGGGGCTTATGGAGGAAGAA GCGGGGTGAATGGGAATGGGGGCTTACAGGGGGAAGAAGCGGGGTGAACG GGAATGGGGGCTTATGGAGGAAGAAGCGGGGTGAATGGGAATGGGGGCTT ACAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACAGGGGGAAGAA GCGGGGTGAACGGGAATGGGGGCTTATGGAGGAAGAAGCGGGGTGAATGG GAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0017 a0008c0013t0017	a0008c0013t0017g0236 a0008c0013t0017g0236	1	262	0.0038	484	c.108 others(503): Show c.10862+951_10862+952insAAGAAGCGGGGTGAACGGGAATGGGG GCTTACAGGGGAAGAAGCGGGGTGAACGGGAATGGGGGCTTATGGAGGAA GAAGCGGGGTGAATGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAA TGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGC TTACAGGGGGAAGAAGCGGGGTGGACGGGAATGGGGGCTTATGGAGGAAG AAGCGGGGTGAATGGGAATGGGGGCTTACAGGGGGAAGAAGCGGGGTGAA CGGGAATGGGGGCTTATGGAGGAAGAAGCGGGGTGAATGGGAATGGGGGC TTACAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACAGGGGGAAG AAGCGGGGTGAACGGGAATGGGGGCTTATGGAGGAAGAAGCGGGGTGAAT GGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCT TACAGGGG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPH3AL_chr17_207389_357807	304161	G G	GATGGGGA others(477): Show GATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGT GACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTT TTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGGA GGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCA GGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATT GAGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTAC TGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGATGG GGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGGGCAGTGACCG TGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAAT AATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGA	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0055 a0001c0001t0013g0055	1	102	0.0098	484	c.351 others(503): Show c.351+15258_351+15259insTCTCTTTCCTGAGACACGGTCACTGC TCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCTTT CCTGAGACACGGTCACTGCCCAATAATTATTAAAACCTCAGTACAGCCTC CCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATT AAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCTTTCCTGAGACACGG TCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCA TCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATTAAAACCTCAGTA CAGCCTCCCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTGCTCAAT AATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCTTTCCTGA GACACGGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCC CTCCCCAT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	304161	G G	GATGGGGA others(477): Show GATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGT GACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTT TTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGGA GGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCA GGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATT GAGCAGTGACCGTGTCTCAGGAAAGAGGTGGGGAGGGAGGGAGGCTGTAC TGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGGTGG GGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCG TGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAAT AATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0005 a0003c0005t0005	a0003c0005t0005g0035 a0003c0005t0005g0035	1	102	0.0098	484	c.351 others(503): Show c.351+15258_351+15259insTCTCTTTCCTGAGACACGGTCACTGC TCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCTTT CCTGAGACACGGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTC CCTCCCTCCCCACCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATT AAAACCTCAGTACAGCCTCCCTCCCTCCCCACCTCTTTCCTGAGACACGG TCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCA TCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATTAAAACCTCAGTA CAGCCTCCCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTGCTCAAT AATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCTTTCCTGA GACACGGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCC CTCCCCAT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
SATL1_chrX_85087284_85248779	85088046	G G	GTATTTAT others(477): Show GTATTTATACATATATGTATAAATACGTATTTATACATATATGTATAAAT ACGTATTAATACATATATGTATAAATACGTATTAATACATATATGTATAA ATACATACATATTTATACATATATGTATACATACATATTTATACATATAT ATGTATAAATACATACATATTTATACATATATATGTATAAATACGTACAT ATTTATACATATATATGTATAAATACGTACATATTTATACATATATATGT ATAAATACGTACATATTTATACATATATATGTATAAATACGTACATATTT ATACATATATATGTATAAATACGTACATATTTATACATATATATGTATAA ATACGTACATATTTATACATATATATGTATAAATACGTACATATTTATAC ATATATGTATAAATACGTACATATTTATACATATATGTATAAATACATAT ACATATTTATACATATATGTATAAATACATATACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	196	0.0051	484	c.43 others(495): Show c.4344_*4345insTGTATATGTATTTATACATATATGTATAAATATG TATATGTATTTATACATATATGTATAAATATGTACGTATTTATACATATA TGTATAAATATGTACGTATTTATACATATATATGTATAAATATGTACGTA TTTATACATATATATGTATAAATATGTACGTATTTATACATATATATGTA TAAATATGTACGTATTTATACATATATATGTATAAATATGTACGTATTTA TACATATATATGTATAAATATGTACGTATTTATACATATATATGTATAAA TATGTACGTATTTATACATATATATGTATAAATATGTATGTATTTATACA TATATATGTATAAATATGTATGTATACATATATGTATAAATATGTATGTA TTTATACATATATGTATTAATACGTATTTATACATATATGTATTAATACG TATTTATACATATATGTATAAATACGTATTTATACATATATGTATAAATA	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding		4237		chrX	TogoVar
SHANK1_chr19_50654255_50724802	50679029	G G	GTGATGGG others(477): Show GTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGAAGGG GTCAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGATGGGGGGGTGT CAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGG GAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGG TGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGG GTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATG GGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAA GATGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAG GGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGA TGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0094 a0001c0038t0094	a0001c0038t0094g0287 a0001c0038t0094g0287	1	297	0.0034	484	c.257 others(503): Show c.2578-6916_2578-6915insTCTTGACCCCTCCCCATCACCCTGAC CCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCA CCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTC CCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTG ACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCAT CACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCC TCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCC TGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCTCC ATCACACTGACACCCCCCCATCACCCTCACCCCTTACCTGTAATGCTTGT AACCCTGACCCCTTCCCATCACCCTGACCCCTCCCCACACCCTGACCCCT CCCCATCA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SHOX_chrX_625791_656584	626115	G G	GTCTCTCT others(477): Show GTCTCTCTCTCTCCTCTCTCTCTTTCTCTGTCTCTGTCTGTATCTCTATC TCTGTCTCTCTTTCTCTCTGTCTTTGTTCCTCTCTCTCTTTTTCTCTTTC TCTGTATCTCTGTCTATCTCTGTCTCTCTTTCTCTCTCTCCTCTCTCTCT GTCTCTTTTTCTCTGTCTCTCTCTGTGTCTCTACCTCTGTCTCTCTTTCT CTCCTCTCTTTTTCTCTGTCTCTGTCTGTCTCTGTCTCTCTCTCTCCTCT CTCTGTATCTCTGTCTCTGTCTCTCTTTCTCTCCTCTCTCTGTATCTCTG TCTCTGTCTCTCTTTCTCTCCTCTCTCTCTTTTTCTCTGTCTCTGTATCT CTGTCTATCTCTGTCTCTCTTTCTCTCTCTCATCTCTCTCTGTCTCTTTT TCTCTGTCTCTCTCTGTGTCTCTACCTCTGTCTCTCTTTCTCTCCTCTCT TTTTCTCTGTCTCTGTATCTCTGTCTATCTCTGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0130 a0001c0001t0023g0130	1	214	0.0047	484	c.-47 others(495): Show c.-4783_-4782insTCTCTCTCTCTCCTCTCTCTCTTTCTCTGTCTCT GTCTGTATCTCTATCTCTGTCTCTCTTTCTCTCTGTCTTTGTTCCTCTCT CTCTTTTTCTCTTTCTCTGTATCTCTGTCTATCTCTGTCTCTCTTTCTCT CTCTCCTCTCTCTCTGTCTCTTTTTCTCTGTCTCTCTCTGTGTCTCTACC TCTGTCTCTCTTTCTCTCCTCTCTTTTTCTCTGTCTCTGTCTGTCTCTGT CTCTCTCTCTCCTCTCTCTGTATCTCTGTCTCTGTCTCTCTTTCTCTCCT CTCTCTGTATCTCTGTCTCTGTCTCTCTTTCTCTCCTCTCTCTCTTTTTC TCTGTCTCTGTATCTCTGTCTATCTCTGTCTCTCTTTCTCTCTCTCATCT CTCTCTGTCTCTTTTTCTCTGTCTCTCTCTGTGTCTCTACCTCTGTCTCT CTTTCTCTCCTCTCTTTTTCTCTGTCTCTGTATCTCTGTCTATCTCTGTC	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		4675		chrX	TogoVar
SIMC1_chr5_176233424_176350989	176305290	C C	CCAGCCAC others(477): Show CCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCC AACCCCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACT GGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTG AGGGGCGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCAGCTGCCCCGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCC ACCCCATCTGGGAAGTGAGGAGCCTCTCCGCCCGG	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	249	0.0040	484	c.173 others(503): Show c.1735-8370_1735-8369insGTCAGCCCCCCGCCTGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCC CGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGG GGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGC CTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCAG CTGCCCCGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCATC TGGGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAG GTGGGGGG	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SIMC1_chr5_176233424_176350989	176305314	G G	GTGGGGGG others(477): Show GTGGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCCCCGTCTGGGAGGTGA GGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCC CGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCAGCTGCCCGGTCTGAGAA GTGAGGAGCCTCTCCGCCCGGCAGCCACCCCATCTGGGAAGTGAGGAGCG TCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	194	0.0052	484	c.173 others(503): Show c.1735-8370_1735-8369insGGTCAGCCCCCCGCCTGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCC CCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGG GGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGC CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCAG CTGCCCGGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCATC TGGGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAG ATGGGGGG	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SIMC1_chr5_176233424_176350989	176305314	G G	GTGGGGGG others(477): Show GTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCCCGTCTGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCC CGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCAGCTGCCCCGTCTGAGAA GTGAGGAGCCTCTCCGCCCGGCAGCCACCCCATCTGGGAAGTGAGGAGCA TCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01167.hp2 NA19043.hp1 others(1): Show HG01109.hp2 HG01167.hp2 NA19043.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0145 others(1): Show a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147	4	197	0.0203	484	c.173 others(503): Show c.1735-8370_1735-8369insGTCAGCCCCCCGCCTGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCC CGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGG GGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGC CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCAG CTGCCCCGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCATC TGGGAAGTGAGGAGCATCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAG ATGGGGGG	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SIMC1_chr5_176233424_176350989	176305314	G G	GTGGGGGG others(477): Show GTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCCCGTCTGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCC CGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCAGCTGCCCCGTCTGAGAA GTGAGGAGCCTCTCCGCCCGGCAGCCACCCCATCTGGGAAGTGAGGAGCG TCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01070.hp2 HG01074.hp2 others(12): Show HG01069.hp2 HG01070.hp2 HG01074.hp2 HG01243.hp2 HG02451.hp2 HG02647.hp1 HG02717.hp2 HG02886.hp2 HG02896.hp1 HG02970.hp1 HG03130.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp2 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0001c0001t0005 a0004c0005t0001 a0001c0001t0001 a0001c0001t0005 a0004c0005t0001	a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 others(12): Show a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0005g0151 a0004c0005t0001g0163 a0004c0005t0001g0164	15	208	0.0721	484	c.173 others(503): Show c.1735-8370_1735-8369insGTCAGCCCCCCGCCTGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCC CGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGG GGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGC CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCAG CTGCCCCGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCATC TGGGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAG ATGGGGGG	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SIMC1_chr5_176233424_176350989	176305314	G G	GTGGGGGG others(477): Show GTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCCCGTCTGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCC CGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCAGCTGCCCGGTCTGAGAA GTGAGGAGCCTCTCCGCCCGGCAGCCACCCCATCTGGGAAGTGAGGAGCG TCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00609.hp1 HG02451.hp1 others(11): Show HG00558.hp2 HG00609.hp1 HG02451.hp1 HG02630.hp1 HG02809.hp2 HG02965.hp1 HG02970.hp2 HG03209.hp2 HG03492.hp2 HG06807.hp2 NA18522.hp1 NA18955.hp1 NA18961.hp1 NA19067.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0013 a0001c0001 a0009c0013	a0001c0001t0001 a0009c0013t0001 a0001c0001t0001 a0009c0013t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(11): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0112 a0009c0013t0001g0016	14	207	0.0676	484	c.173 others(503): Show c.1735-8370_1735-8369insGTCAGCCCCCCGCCTGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCC CGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGG GGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGC CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCAG CTGCCCGGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCATC TGGGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAG ATGGGGGG	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SIMC1_chr5_176233424_176350989	176305314	G G	GTGGGGGG others(477): Show GTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCCCGTCTGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCC CGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCAGCTGCCCGGTCTGAGAA GTGAGGAGCCTCTCCGCCCGGCAGCCACCCCATCTGGGAAGTGAGGAGCG TCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAGA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	194	0.0052	484	c.173 others(503): Show c.1735-8370_1735-8369insGTCAGCCCCCCGCCTGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCC CGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGG GGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGC CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCAG CTGCCCGGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCATC TGGGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAG ATGGGGGG	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SIMC1_chr5_176233424_176350989	176305314	G G	GTGGGGGG others(477): Show GTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCCCGTCTGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCC CGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCAGCTGCCCGGTCTGAGAA GTGAGGAGCCTCTCCGCCCGGCAGCCACCCCATCTGGGAAGTGAGGAGCG TCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	194	0.0052	484	c.173 others(503): Show c.1735-8370_1735-8369insGTCAGCCCCCCGCCTGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCC CGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGG GGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGC CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCAG CTGCCCGGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCATC TGGGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAG ATGGGGGG	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLAIN1_chr13_77692687_77769229	77704211	T T	TATGTTTT others(477): Show TATGTTTTATATGTATATATACATAGAAAATATATATACATGTTTTATAT GTATATATATACATAGAAAATATATATACATGTTTTATATGTATATATAT ACATAGAAAATATATATACATGTTTTATATGTATATATATACATAGAAAA TATATATACATATGTTTTATATGTATATATATACATAGAAAATATATATA CATATGTTTTATATGTATATATATACATAGAAAATATATATACATATGTT TTATATGTATATATATACATAGAAAATATATGTACATATGTTTTATATGT ATATATATACATAGAAAATATATGTACATATGTTTTATATGTATATATAT ACATAGAAAATATATGTACATATGTTTTCTATGTATATATACATAGAAAA TATATGTACATATGTTTTATATGTATATATACATAGAAAATATATGTACA TATGTTTTATATGTATATATACATAGAAAATATAC	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA19007.hp1 NA18998.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	2	182	0.0110	484	c.626 others(501): Show c.626+5706_626+5707insATACATGTTTTATATGTATATATATACA TAGAAAATATATATACATGTTTTATATGTATATATATACATAGAAAATAT ATATACATGTTTTATATGTATATATATACATAGAAAATATATATACATAT GTTTTATATGTATATATATACATAGAAAATATATATACATATGTTTTATA TGTATATATATACATAGAAAATATATATACATATGTTTTATATGTATATA TATACATAGAAAATATATGTACATATGTTTTATATGTATATATATACATA GAAAATATATGTACATATGTTTTATATGTATATATATACATAGAAAATAT ATGTACATATGTTTTCTATGTATATATACATAGAAAATATATGTACATAT GTTTTATATGTATATATACATAGAAAATATATGTACATATGTTTTATATG TATATATACATAGAAAATATACATGTTTTATATGTATATATACATAGAAA ATATAT	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLC45A1_chr1_8313114_8349165	8322308	A A	ATGGGCGG others(477): Show ATGGGCGGGTGGGTGGATGGATGAGTGGGTGAGTGGATGGATGCATGGAT GGATGGGTGGGTGGGTGGATGGATGAGTGGGTGGATGGATGGGTGGATGG ATGGGTGGGTGGGTGGATGGATGGGTGGGTGGGTGCGTGGGTGGGTGGAT GGATGGATGGATGAGTGGGTGAGTGGATGGATGCATGGATGGATGGGTGG GTGGGTGAATGGATGGATGAGTGGGTGGATGGATGGGTGGATGAATGGGT GGGTGGGTGCGTGGGTGGGTGGATGGATGGATGGGTGGATGGATGCATGG GTGGGTGGATGTATGGGTGGATGGATGCGTGGGTGGGTGGATGGATGGGT GGATGGGTGGATGGATGGATGGATAGATGGGTGTGTGGATGGATGGATGA GTGGGTGGATGGATGGGTGGATGGATGGGTAGGTGGGTGGATGGATGGGT GGATGAGTGGATGGATGGATGGATAGATGGGTGGG	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02735.hp1 HG01993.hp1 HG02735.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0009 a0001c0001 a0002c0009	a0001c0001t0001 a0002c0009t0001 a0001c0001t0001 a0002c0009t0001	a0001c0001t0001g0120 a0002c0009t0001g0119 a0001c0001t0001g0120 a0002c0009t0001g0119	2	189	0.0106	484	c.-24 others(501): Show c.-24-1995_-24-1994insGCGGGTGGGTGGATGGATGAGTGGGTGA GTGGATGGATGCATGGATGGATGGGTGGGTGGGTGGATGGATGAGTGGGT GGATGGATGGGTGGATGGATGGGTGGGTGGGTGGATGGATGGGTGGGTGG GTGCGTGGGTGGGTGGATGGATGGATGGATGAGTGGGTGAGTGGATGGAT GCATGGATGGATGGGTGGGTGGGTGAATGGATGGATGAGTGGGTGGATGG ATGGGTGGATGAATGGGTGGGTGGGTGCGTGGGTGGGTGGATGGATGGAT GGGTGGATGGATGCATGGGTGGGTGGATGTATGGGTGGATGGATGCGTGG GTGGGTGGATGGATGGGTGGATGGGTGGATGGATGGATGGATAGATGGGT GTGTGGATGGATGGATGAGTGGGTGGATGGATGGGTGGATGGATGGGTAG GTGGGTGGATGGATGGGTGGATGAGTGGATGGATGGATGGATAGATGGGT GGGTGG	SLC45A1	ENSG00000162426.16	transcript	ENST00000471889.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC6A12_chr12_185081_219157	197074	C C	CATCCATC others(477): Show CATCCATCCATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCA TCTATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCTATCCATC CATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCATCTA TCCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATC CATCCATCTATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCA TCCATCTACCCATCCATCCATCCATCCATCCATCT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0029 a0002c0005t0029	a0002c0005t0029g0378 a0002c0005t0029g0378	1	417	0.0024	484	c.107 others(501): Show c.1076-193_1076-192insAGATGGATGGATGGATGGATGGATGGGT AGATGGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGATAG ATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGATGGAT GGATGGATAGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGGTAGATGGATGGAT GGATAGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGG ATGGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
SLC6A18_chr5_1220381_1251189	1238637	G G	GGGGCCTC others(477): Show GGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAA AGAGGTCAGGTTTGGAGTGAGCTTGGGGCCTCAGGAAAGAGGTCAGGTTT GGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGAGCCTG GGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAA AGACATCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTT GGAGTGGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGG AGGACTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAA GAGGTCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTG GAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGA GGACTCAGGAAAGACATCAGGTTTGGAGTGAGCCT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0077 a0001c0002t0002g0077	1	452	0.0022	484	c.732 others(499): Show c.732+578_732+579insGGCCTCAGGAAAGAGGTCAGGTTTGGAGTG GGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGAGCTTGGGGCCTC AGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATC AGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGG GCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGGCCTC AGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTCA GGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGA GCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGGGCCTCA GGAAAGAGGTCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAG GTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGAG CCTG	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr5	TogoVar

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