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
TP53AIP1_chr11_128930370_128947871	128930542	G G	GGGGGTTA others(483): Show GGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGGTTAGGGAGACCAA GAGTCAGGGAGGCCGGGGTTAGGAGGGGGGGGGGGAGGGCCAGGGGTTGG GGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGG CTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGG GTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAG GGAGGCCGGGGTTAGGGAGGCCAGGGGTTGGGGAGGCCGGGGTTAGGGAG GCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGG GGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTA GGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGACCAGGGG TTAGGGAGGCCAGGGTAGGGAGGCTGGGGGTTAGGAAGGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	285	0.0035	490	c.50 others(501): Show c.5048_*5049insAGCCTTCCTAACCCCCAGCCTCCCTACCCTGGCC TCCCTAACCCCTGGTCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCC TAACCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTC CCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAA CCCCGGCCTCCCTAACCCCGGCCTCCCCAACCCCTGGCCTCCCTAACCCC GGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCT CCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTA ACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCC GGCCTCCCCAACCCCTGGCCCTCCCCCCCCCCCTCCTAACCCCGGCCTCC CTGACTCTTGGTCTCCCTAACCCCCTGGCCTCCCTAACCCCAGCCTCCCT AACCCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4827		chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930820	G G	GTTAGAGA others(483): Show GTTAGAGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATT AGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGA GGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCTAGGGTTAGGGAGGC CGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGG TTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCTGGGATTAG GGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGG CCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCG GGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGT TAGGGAGGCTGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGGTTAGGA AGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	427	0.0023	490	c.47 others(501): Show c.4770_*4771insTCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACC CCGGCCTTCCTAACCCCCAGCCTCCCTACCCTGGCCTCCCTAACCCCAGC CTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCC CTAACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTA ACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCC GGCCTCCCTAATCCCAGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCC TCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCT AACCCCGGCCTCCCTAACCCTAGGCCTCCCTAACCCCTGGCCTCCCTAAC CCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGG CCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCT CTCTAA	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4549		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273429	T T	TTATATAT others(483): Show TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATACATAAAAATTATATATATATTATATATACATAAA AATTATATATATATTATATATACATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATAATATATATATATAAAAATTATATATATAT ATTATATATATATAAAAATTATATATATATATTATATATATATAAAAATT ATATATATATATTATATATATATAAAAATTATATATATATATTATATATA TATAAAAATTATATATATATATTATATATATATAAAAATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	115	0.0087	490	c.29 others(501): Show c.2994_*2995insTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATACATAAAAATTATATATATA TTATATATACATAAAAATTATATATATATTATATATACATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATAATATATATATATAA AAATTATATATATATATTATATATATATAAAAATTATATATATATATTAT ATATATATAAAAATTATATATATATATTATATATATATAAAAATTATATA TATATATTATATATATATAAAAATTATATATATATATTATATATATATAA AAATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2316		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273429	T T	TTATATAT others(483): Show TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATTATATATACATAAA AATTATATATATATTATATATACATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATAATATATATATATAAAAATTATATATATAT ATTATATATATATAAAAATTATATATATATATTATATATATATAAAAATT ATATATATATATTATATATATATAAAAATTATATATATATATTATATATA TATAAAAATTATATATATATATTATATATATATAAAAATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp2 HG02602.hp1 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	116	0.0172	490	c.29 others(501): Show c.2994_*2995insTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATATA TTATATATACATAAAAATTATATATATATTATATATACATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATAATATATATATATAA AAATTATATATATATATTATATATATATAAAAATTATATATATATATTAT ATATATATAAAAATTATATATATATATTATATATATATAAAAATTATATA TATATATTATATATATATAAAAATTATATATATATATTATATATATATAA AAATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2316		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273429	T T	TTATATAT others(483): Show TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATTATATATATATAAA AATTATATATATATTATATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATAATATATATATATAAAAATTATATATATAT ATTATATATATATAAAAATTATATATATATATTATATATATATAAAAATT ATATATATATATTATATATATATAAAAATTATATATATATATTATATATA TATAAAAATTATATATATATATTATATATATATAAAAATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 NA18747.hp1 NA18906.hp2 others(5): Show HG00621.hp1 NA18747.hp1 NA18906.hp2 NA18952.hp1 NA18966.hp2 NA19063.hp1 NA19080.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0019 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0019 a0001c0001t0001g0023	8	122	0.0656	490	c.29 others(501): Show c.2994_*2995insTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATATA TTATATATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATAATATATATATATAA AAATTATATATATATATTATATATATATAAAAATTATATATATATATTAT ATATATATAAAAATTATATATATATATTATATATATATAAAAATTATATA TATATATTATATATATATAAAAATTATATATATATATTATATATATATAA AAATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2316		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273429	T T	TTATATAT others(483): Show TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATTATATATATATAAA AATTATATATATATTATATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATATTATATATATATAAAAATTATATATATAT ATTATATATATATAAAAATTATATATATATATTATATATATATAAAAATT ATATATATATATTATATATATATAAAAATTATATATATATATTATATATA TATAAAAATTATATATATATATTATATATATATAAAAATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	115	0.0087	490	c.29 others(501): Show c.2994_*2995insTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATATA TTATATATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATATTATATATATATAA AAATTATATATATATATTATATATATATAAAAATTATATATATATATTAT ATATATATAAAAATTATATATATATATTATATATATATAAAAATTATATA TATATATTATATATATATAAAAATTATATATATATATTATATATATATAA AAATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2316		chr11	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(483): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTC CTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTC CTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTC CTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCT TCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCC CTTCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCC TCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	8	0.1250	490	c.657 others(505): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCT CCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTC CCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTC CCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTT CCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCT TCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCC CTTCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCC TCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTT CCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TWIST2_chr2_238843085_238915534	238870237	C C	CACCCTAC others(483): Show CACCCTACACACCCCACACACACCACACACCACACACACCCCACACACAC CACACCCCACACACACCACACACCCCCCACACACACCACACCCCATACAC ACCACACCCCACACACACCACACCCCATACACACCACACACCCCACACAC ACCACACACCCCACACACACCACACCCCATACACACCACACCCCCCACAC ACCACACACCCCACACACACCACACCCCACACACACCACACACACACCAC ACCCCACACACACCACACACCCCCCACACACACCACACCCCATACACACC ACACCCCACACACACCACACCCCACACACACCACACACCCCACACACACC ACACACCCCACACACACCACACCCCACACACACCACACCCCATACACACC ACACCCCACACACACCACACCCCATACACACCACACCCCATACACACCAC ACCCCACACACACCACACACCCCACACACACCACACCCCAT	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0295	1	320	0.0031	490	c.35 others(509): Show c.35+21506_*35+21507insCCTACACACCCCACACACACCACACA CCACACACACCCCACACACACCACACCCCACACACACCACACACCCCCCA CACACACCACACCCCATACACACCACACCCCACACACACCACACCCCATA CACACCACACACCCCACACACACCACACACCCCACACACACCACACCCCA TACACACCACACCCCCCACACACCACACACCCCACACACACCACACCCCA CACACACCACACACACACCACACCCCACACACACCACACACCCCCCACAC ACACCACACCCCATACACACCACACCCCACACACACCACACCCCACACAC ACCACACACCCCACACACACCACACACCCCACACACACCACACCCCACAC ACACCACACCCCATACACACCACACCCCACACACACCACACCCCATACAC ACCACACCCCATACACACCACACCCCACACACACCACACACCCCACACAC ACCACACCCCATAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
UMAD1_chr7_7635752_7884223	7679092	T T	TATAAATA others(483): Show TATAAATATATATTTATATATTTAGTTTATAAATATATATTTATATATTT AGTTTATAAATATATTTATATATTTAGTTTATAAATATATATTTATATAT TTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTAT TTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTAT TTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTAT TTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATATTTAC ATATTTAGTTTATAAATACATATTTATATATTTAGTTTATAAATACATAT TTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAG ATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATA TTTAATTTATAGATAAATATATTTATATATTTAATTTATAG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0161 a0001c0001t0008g0161	1	105	0.0095	490	c.82+ others(505): Show c.82+5644_82+5645insTATATATTTATATATTTAGTTTATAAATAT ATATTTATATATTTAGTTTATAAATATATTTATATATTTAGTTTATAAAT ATATATTTATATATTTAGTTTATAAATATATATTTACATATTTAGTTTAT AAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTAT AAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTAT AAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTAT AAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTTAGT TTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTTATA TATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAA TATATATTTATATATTTAATTTATAGATAAATATATTTATATATTTAATT TATAGATAAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679116	G G	GTTTATAA others(483): Show GTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATA TTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATATTTA TTTATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATATTTA CATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACATATTTA CATATTTAGTTTATAAATATTTACATATTTAGTTTATAAATACATATTTA CATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATA TTTATATATTTAGTTTATAAATACATATTTATATATTTAGTTTATAAATA TATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATT TATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0156 a0001c0001t0035g0156	1	225	0.0044	490	c.82+ others(505): Show c.82+5669_82+5670insAACATATATTTATATATTTAGTTTATAAAC ATATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTAT AAATATATATTTATTTATTTAGTTTATAAATATATATTTATTTAGTTTAT AAATATATATTTACATATTTAGTTTATAAATATATATTTATTTAGTTTAT AAATACATATTTACATATTTAGTTTATAAATATTTACATATTTAGTTTAT AAATACATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGT TTATAAATACATATTTATATATTTAGTTTATAAATACATATTTATATATT TAGTTTATAAATATATATTTATATATTTAATTTATAGATAAATATATATT TATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGA TAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATAT TTAATTTATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UNC5D_chr8_35230475_35801540	35509498	T T	TCTCCTCT others(483): Show TCTCCTCTCCTCTCCCCTCCCTTCCCCTCTCCCCTCCCCTCCCTTCCCCT CTCCCCTCCCCTGCCTTCCCCTCTCTCCTCCCCTCTCTCCTCCCCTCCCC TCCCCTCTCCTCTCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCTCCT CCCCCCTTCCCTCCCCTTGCCTCTCCCCTCCCTTCCCCTCTCCCCTCCCC TCCCCTCCCTTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCC CTCCCCTCCCCTCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCTCCTCT CCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCC TCTCCTCTCCTTCCCTCCCCTCCCCTCCCATTCCTTCCCCTCCTATTCCT TCCCCTCCCTTTCCCTCCCATTCCTTCCCCTCCCTTTCTCTCCCATTCCT TCCCCTCCCTTTCCCCTACCCCTCCCCTGTCTTCTCCTCCC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0055 a0001c0002t0006g0055	1	2	0.5000	490	c.104 others(509): Show c.104-39786_104-39785insCTCTCCCCTCCCTTCCCCTCTCCCCT CCCCTCCCTTCCCCTCTCCCCTCCCCTGCCTTCCCCTCTCTCCTCCCCTC TCTCCTCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCCCCTCTCCTCT CCCCTCCCCTCTCCTCCCCCCTTCCCTCCCCTTGCCTCTCCCCTCCCTTC CCCTCTCCCCTCCCCTCCCCTCCCTTCCCCTCTCCCCTCCCCTCCCCTCT CCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCCCTCC CCTCCCCTCTCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCTCCCCTCCCCTCTCCTCTCCTTCCCTCCCCTCCCCTCCCATTCCT TCCCCTCCTATTCCTTCCCCTCCCTTTCCCTCCCATTCCTTCCCCTCCCT TTCTCTCCCATTCCTTCCCCTCCCTTTCCCCTACCCCTCCCCTGTCTTCT CCTCCCCTCCTCTC	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
VGLL4_chr3_11551069_11648915	11605234	C C	CCCCACCC others(483): Show CCCCACCCCCAATCCTCCACAGCTCTGTGAATTCCATCTTCCAAAGCGCC CCCACGCCCACCCCCCACCCCCAATCCTCCACAGCTCTGTGAATTCCATC TTCCAAAGCGCCCCACGCCCCCGCCCACCCCCAATCCTCCACAGCTCTGT GAATTCCATCTTCCAAAGCGCCCCCACGCCCACCCCCCACCCCCAATCCT CCACAGCTCTGTGAATTCCATCTTCCAAAGCGCCCCCACGCCCACCCCCC ACCCCCAATCCTCCACAGCTCTGTGAATTCCATCTTCCAAAGCGCCCCAC GCCCCCGCCCACCCCCAATCCTCCACAGCTCTGTGAATTCCATCTTCCAA AGCGCCCCCACGCCCACCCCCCACCCCCAATCCTCCACAGCTCTGTGAAT TCCATCTTCCAAAGCGCCCCCACGCCCCCGCCCACCCCCAATCCTCCACA GCTCTGTGAATTCCATCTTCCAAAGCGCCCCCACGCCCCCG	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0040 a0002c0003t0001g0040	1	347	0.0029	490	c.83- others(505): Show c.83-3213_83-3212insCGGGGGCGTGGGGGCGCTTTGGAAGATGGA ATTCACAGAGCTGTGGAGGATTGGGGGTGGGCGGGGGCGTGGGGGCGCTT TGGAAGATGGAATTCACAGAGCTGTGGAGGATTGGGGGTGGGGGGTGGGC GTGGGGGCGCTTTGGAAGATGGAATTCACAGAGCTGTGGAGGATTGGGGG TGGGCGGGGGCGTGGGGCGCTTTGGAAGATGGAATTCACAGAGCTGTGGA GGATTGGGGGTGGGGGGTGGGCGTGGGGGCGCTTTGGAAGATGGAATTCA CAGAGCTGTGGAGGATTGGGGGTGGGGGGTGGGCGTGGGGGCGCTTTGGA AGATGGAATTCACAGAGCTGTGGAGGATTGGGGGTGGGCGGGGGCGTGGG GCGCTTTGGAAGATGGAATTCACAGAGCTGTGGAGGATTGGGGGTGGGGG GTGGGCGTGGGGGCGCTTTGGAAGATGGAATTCACAGAGCTGTGGAGGAT TGGGGGTGGG	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	1/4			chr3	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(483): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCT CCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCC TCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTC TCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCC TCCCCCTCTCCTCTCCCCCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCC TCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCC TCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0106 a0001c0001t0003g0106	1	33	0.0303	490	c.53- others(503): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCT CTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTC CCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCT CTCCCCTCCCCCTCTCCTCTCCCCCTCCCCCTCCTCTCCCCCTCTCCCCC TCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCC TCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTCCCT CTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(483): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCT CCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCC TCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTC TCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCCTC TCCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCC CCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCTCTCCCCTCCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCC TCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCC TCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0076 a0002c0002t0001g0076	1	33	0.0303	490	c.53- others(503): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCT CTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTC CCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCT CTCCTCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCC CTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCTCTCCCCTC CCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCC TCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCC TCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTCCCT CTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370800	C C	CATCATAT others(483): Show CATCATATATGATATATACATCATATATCACACATATGATATACACATCA TATATCACACATATGATATACATCATATATCACACATATGATATACATCA TATATCACACATATGATATACATCATATATCACACATATGATATACATCA TATATCACACATATGATATACATCATATATCACACATATGATATACATCA TATATCACACATATGATATACATCATATATCACACATATGATATATATCA TATATCACACATATGATATATATCATATATCACACATATGATATATATCA TACATATCACATATATCATATATATCATACATATCACATATATCATATAT ATCATACATATCACATATATGATATATATCATATATATCACATATATCAT ATATATCATATATATCACATATATGATATATATATCATATATATCACATA TATGATATATATATCATATATATCACATATATGATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	193	0.0052	490	c.-36 others(501): Show c.-3672_-3671insATCATATATGATATATACATCATATATCACACAT ATGATATACACATCATATATCACACATATGATATACATCATATATCACAC ATATGATATACATCATATATCACACATATGATATACATCATATATCACAC ATATGATATACATCATATATCACACATATGATATACATCATATATCACAC ATATGATATACATCATATATCACACATATGATATACATCATATATCACAC ATATGATATATATCATATATCACACATATGATATATATCATATATCACAC ATATGATATATATCATACATATCACATATATCATATATATCATACATATC ACATATATCATATATATCATACATATCACATATATGATATATATCATATA TATCACATATATCATATATATCATATATATCACATATATGATATATATAT CATATATATCACATATATGATATATATATCATATATATCACATATATGAT ATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3568		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370809	C C	CATCATAT others(483): Show CATCATATACATCATATACATCATATATGATATATACATCATATATCACA CATATGATATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATATATCATATATCACACATATGATATATATCATACATAT CACATATATCATATATATCATACATATCACATATATCATATATATCATAC ATATCACATATATCATATATATCATACATATCACATATATCATATATATC ATACATATCACATATATCATATATATCATATATATCACATATATGATATA TATATCATATATATCACATATATGATATATATATCATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0160 a0002c0002t0001g0160	1	173	0.0058	490	c.-36 others(501): Show c.-3663_-3662insATCATATACATCATATACATCATATATGATATAT ACATCATATATCACACATATGATATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATATATCATATATCACACATATGAT ATATATCATACATATCACATATATCATATATATCATACATATCACATATA TCATATATATCATACATATCACATATATCATATATATCATACATATCACA TATATCATATATATCATACATATCACATATATCATATATATCATATATAT CACATATATGATATATATATCATATATATCACATATATGATATATATATC ATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3559		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370978	C C	CATATGTG others(483): Show CATATGTGATATATATGGTATACATGATATATATCATATATATCATATGT GATATATATGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATATATGTCACATATATCATATGTGATATATGTCACATAT ATCATATGTGATATATGTCACATATATCACATATATGATATATATCATAT ATATCATATATATGATATATATCATATATATCATATATATGATATATATC ATATATATCATATATATGATATATATCATATATCATATATATGATATATA TCACATATATATCATATATATCACATATATATCATATATATCATATATAT ATCATATATATGATATATATCATATATATATCATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0065 a0002c0002t0001g0065	1	223	0.0045	490	c.-34 others(501): Show c.-3494_-3493insATATGTGATATATATGGTATACATGATATATATC ATATATATCATATGTGATATATATGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATATATGTCACATATATCATATGTG ATATATGTCACATATATCATATGTGATATATGTCACATATATCACATATA TGATATATATCATATATATCATATATATGATATATATCATATATATCATA TATATGATATATATCATATATATCATATATATGATATATATCATATATCA TATATATGATATATATCACATATATATCATATATATCACATATATATCAT ATATATCATATATATATCATATATATGATATATATCATATATATATCATA TATATG	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3390		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370978	C C	CATATGTG others(483): Show CATATGTGATATATATGGTATATATGATATATATCATATATATCATATGT GATATATATGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATACATATGACATATATCATATGTGATATATGTCACATAT ATCATATGTGATATATGTCACATATATCATATGTGATATATGTCACATAT ATCACATGTGATATATGTCACATATATCACATGTGATATATATCATATAT ATCATATATATGATATATATCATATATATCATATATATGATATATATCAT ATATATCATATATATGATATATATCATATATCATATATATGATATATATC ACATATATATATCATATATATCACATATATATCATATATATCATATATAT ATCATATATATGATATATATCATATATATATCATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0024 a0002c0002t0001g0024	1	223	0.0045	490	c.-34 others(501): Show c.-3494_-3493insATATGTGATATATATGGTATATATGATATATATC ATATATATCATATGTGATATATATGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATACATATGACATATATCATATGTG ATATATGTCACATATATCATATGTGATATATGTCACATATATCATATGTG ATATATGTCACATATATCACATGTGATATATGTCACATATATCACATGTG ATATATATCATATATATCATATATATGATATATATCATATATATCATATA TATGATATATATCATATATATCATATATATGATATATATCATATATCATA TATATGATATATATCACATATATATATCATATATATCACATATATATCAT ATATATCATATATATATCATATATATGATATATATCATATATATATCATA TATATG	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3390		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370978	C C	CATATGTG others(483): Show CATATGTGATATATATTGTATATATGATATATATCATATATATCATATGT GATATATATGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATACATATGACATATATCATATGTGATATATGTCACATAT ATCATATGTGATATATGTCACATATATCATGTGTGATATATGTCACATAT ATCATATGTGATATATGTCACATATATCATATATATGATATATATCACAT ATATCATATATATGATATATATCATATATATCATATATATGATATATATC ATATATCATATATATGATATATATCATATATCATATATATGATATATATC ACATATATATATCATATATATCACATATATATCATATATATCATATATAT ATCATATATATGATATATATCATATATATATCATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 NA19000.hp1 HG01175.hp2 NA19000.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	2	224	0.0089	490	c.-34 others(501): Show c.-3494_-3493insATATGTGATATATATTGTATATATGATATATATC ATATATATCATATGTGATATATATGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATACATATGACATATATCATATGTG ATATATGTCACATATATCATATGTGATATATGTCACATATATCATGTGTG ATATATGTCACATATATCATATGTGATATATGTCACATATATCATATATA TGATATATATCACATATATCATATATATGATATATATCATATATATCATA TATATGATATATATCATATATCATATATATGATATATATCATATATCATA TATATGATATATATCACATATATATATCATATATATCACATATATATCAT ATATATCATATATATATCATATATATGATATATATCATATATATATCATA TATATG	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3390		chr10	TogoVar
ADPRHL1_chr13_113394611_113458488	113413099	G G	GCTCGGTT others(484): Show GCTCGGTTCACCCACCGCCAACAGCGCCCCGCAGAGCTCGGTTCACCCAC CGCCAACAGCGCCCCGCAGAGCTCGGTTCACCCACCGCCAACAGCGCCCC GCAGAACTCGGTTCACCCACCGCCAACAGCGCCCCGCGGAGGCTCGGTTC ACCCACCGCCAACAGCGCCCCGCAGAGCTCGGTTCACCCACCGCCAACAG CGCCCCGCAGAACTCGGTTCACCCACCGCCAACAGCGCCCCGCAGAGCTC GGTTCACCCACCGCCAACAGCGCCCCGCAGAGCTCGGTTCACCCACCGCC AACAGCGCCCCGCAGAGCTCGGTTCACCCACCGCCAACAGCGCCCCGCAG AGCTCGGTTCACCCACCGCCAACAGCGCCCCGCAGAGCTCGGTTCACCCA CCGCCAACAGCGCCCCGCAGAGCTCGGTTCACCCACCGCCAACAGCGCCC CGCAGAACTCGGTTCACCCACCGCCAACAGCGCCCCGCAGAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0024 a0006c0013t0024	a0006c0013t0024g0230 a0006c0013t0024g0230	1	246	0.0041	491	c.106 others(510): Show c.1062-4880_1062-4879insTTCTGCGGGGCGCTGTTGGCGGTGGG TGAACCGAGTTCTGCGGGGCGCTGTTGGCGGTGGGTGAACCGAGCTCTGC GGGGCGCTGTTGGCGGTGGGTGAACCGAGCTCTGCGGGGCGCTGTTGGCG GTGGGTGAACCGAGCTCTGCGGGGCGCTGTTGGCGGTGGGTGAACCGAGC TCTGCGGGGCGCTGTTGGCGGTGGGTGAACCGAGCTCTGCGGGGCGCTGT TGGCGGTGGGTGAACCGAGCTCTGCGGGGCGCTGTTGGCGGTGGGTGAAC CGAGTTCTGCGGGGCGCTGTTGGCGGTGGGTGAACCGAGCTCTGCGGGGC GCTGTTGGCGGTGGGTGAACCGAGCCTCCGCGGGGCGCTGTTGGCGGTGG GTGAACCGAGTTCTGCGGGGCGCTGTTGGCGGTGGGTGAACCGAGCTCTG CGGGGCGCTGTTGGCGGTGGGTGAACCGAGCTCTGCGGGGCGCTGTTGGC GGTGGGTGAACCGAG	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(484): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGAAGGGGAGGAGGAGGGGGAGGAGGGGGAGGGGGAGGGGGGAGGAGG AGGGGGGGGGAGGAGGGGGGGGGAGGGGGGGAGGAGGAGGGGGGGAGGAG GGGGGGAGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGA GGGGGAGGGGGAGGGGGAGGGGGAGGAGGGGGAGGAGGAGGGGGAGGAGG AGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAG GAGGAGGAGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGG AGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0187 a0001c0001t0002g0187	1	183	0.0055	491	c.125 others(512): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCTCCCCTCCT CCTCCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCT CCTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCC CCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCCCC TCCCCCTCCCCCTCCCCCTCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCCTCCTCCCCCCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCCCC CCCCTCCTCCCCCCCCCTCCTCCTCCCCCCTCCCCCTCCCCCTCCTCCCC CTCCTCCTCCCCTTCTCCTCCTCCTCCCCCTCCTCCTCCCCTTCTCCTCC CCTTTCTGCTCCTTCCCCTTCTCCTCCCCCTTCTCCTCCTCCTCCTCCTC CCCCTCCTCCACCTCCCCCTCCTCTCCTTCCCCTCTTCACCTTCTCCCCT CCCCTCCCCTCCTCCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(484): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGAAGGGGAGGAGGAGGGGGAGGAGGGGGAGGGGGAGGGGGGAGGAGG AGGGGGGGGGGAGGAGGGGGGGGGAGGGGAGGAGGAGGAGGGGGGGAGGA GGGGGGGAGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGA GGGGGAGGGGGAGGGGGAGGGGGAGGAGGGGGAGGAGGAGGGGGAGGAGG AGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAG GAGGAGGAGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGG AGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0059 a0001c0001t0007g0059	1	183	0.0055	491	c.125 others(512): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCTCCCCTCCT CCTCCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCT CCTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCC CCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCCCC TCCCCCTCCCCCTCCCCCTCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCTCCCCCCCTCCTCCCCCCCTCCTCCTCCTCCCCTCCCCCC CCCTCCTCCCCCCCCCCTCCTCCTCCCCCCTCCCCCTCCCCCTCCTCCCC CTCCTCCTCCCCTTCTCCTCCTCCTCCCCCTCCTCCTCCCCTTCTCCTCC CCTTTCTGCTCCTTCCCCTTCTCCTCCCCCTTCTCCTCCTCCTCCTCCTC CCCCTCCTCCACCTCCCCCTCCTCTCCTTCCCCTCTTCACCTTCTCCCCT CCCCTCCCCTCCTCCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(484): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGAAGGGGAGGAGGAGGGGGAGGAGGGGGAGGGGGAGGGGGGGAGGAG GAGGGGGGGGAGGAGGGGGGGGGAGGGGGGGAGGAGGAGGGGGGGAGGAG GGGGGGAGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGA GGGGGAGGGGGAGGGGGAGGGGGAGGAGGGGGAGGAGGAGGGGGAGGAGG AGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAG GAGGAGGAGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGG AGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGA	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0282 a0001c0001t0006g0282	1	183	0.0055	491	c.125 others(512): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCTCCCCTCCT CCTCCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCT CCTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCC CCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCCCC TCCCCCTCCCCCTCCCCCTCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCCTCCTCCCCCCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCCCC CCCCTCCTCCCCCCCCTCCTCCTCCCCCCCTCCCCCTCCCCCTCCTCCCC CTCCTCCTCCCCTTCTCCTCCTCCTCCCCCTCCTCCTCCCCTTCTCCTCC CCTTTCTGCTCCTTCCCCTTCTCCTCCCCCTTCTCCTCCTCCTCCTCCTC CCCCTCCTCCACCTCCCCCTCCTCTCCTTCCCCTCTTCACCTTCTCCCCT CCCCTCCCCTCCTCCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(484): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGAAGGGGAGGAGGAGGGGGAGGAGGGGGAGGGGGAGGGGGGGAGGAG GAGGGGGGGGAGGAGGGGGGGGGAGGGGGGGAGGAGGAGGGGGGGGAGGA GGGGGGGAGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGA GGGGGAGGGGGAGGGGGAGGGGGAGGAGGGGGAGGAGGAGGGGGAGGAGG AGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAG GAGGAGGAGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGG AGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	183	0.0055	491	c.125 others(512): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCTCCCCTCCT CCTCCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCT CCTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCC CCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCCCC TCCCCCTCCCCCTCCCCCTCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCCCCTCCTCCCCCCCTCCTCCCCCCCCTCCTCCTCCCCCCCTCCCCC CCCCTCCTCCCCCCCCTCCTCCTCCCCCCCTCCCCCTCCCCCTCCTCCCC CTCCTCCTCCCCTTCTCCTCCTCCTCCCCCTCCTCCTCCCCTTCTCCTCC CCTTTCTGCTCCTTCCCCTTCTCCTCCCCCTTCTCCTCCTCCTCCTCCTC CCCCTCCTCCACCTCCCCCTCCTCTCCTTCCCCTCTTCACCTTCTCCCCT CCCCTCCCCTCCTCCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(484): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGAAGGGGAGGAGGAGGGGGAGGAGGGGGAGGGGGAGGGGGGGAGGAG GAGGGGGGGGGAGGAGGGGGGGGAGGGGGGGAGGAGGAGGGGGGGAGGAG GGGGGGAGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGA GGGGGAGGGGGAGGGGGAGGGGGAGGAGGGGGAGGAGGAGGGGGAGGAGG AGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAG GAGGAGGAGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGG AGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02451.hp2 HG02040.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0041 a0001c0001t0002 a0001c0001t0041	a0001c0001t0002g0170 a0001c0001t0041g0073 a0001c0001t0002g0170 a0001c0001t0041g0073	2	184	0.0109	491	c.125 others(512): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCTCCCCTCCT CCTCCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCT CCTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCC CCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCCCC TCCCCCTCCCCCTCCCCCTCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCCTCCTCCCCCCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCCCC CCCTCCTCCCCCCCCCTCCTCCTCCCCCCCTCCCCCTCCCCCTCCTCCCC CTCCTCCTCCCCTTCTCCTCCTCCTCCCCCTCCTCCTCCCCTTCTCCTCC CCTTTCTGCTCCTTCCCCTTCTCCTCCCCCTTCTCCTCCTCCTCCTCCTC CCCCTCCTCCACCTCCCCCTCCTCTCCTTCCCCTCTTCACCTTCTCCCCT CCCCTCCCCTCCTCCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(484): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGAAGGGGAGGAGGAGGGGGAGGAGGGGGAGGGGGAGGGGGGGAGGAG GAGGGGGGGGGAGGAGGGGGGGGGAGGGGGGGAGGAGGAGGGGGGGAGGA GGGGGGAGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGA GGGGGAGGGGGAGGGGGAGGGGGAGGAGGGGGAGGAGGAGGGGGAGGAGG AGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAG GAGGAGGAGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGG AGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGA	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	183	0.0055	491	c.125 others(512): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCTCCCCTCCT CCTCCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCT CCTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCC CCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCCCC TCCCCCTCCCCCTCCCCCTCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCCCCC CCCTCCTCCCCCCCCCTCCTCCTCCCCCCCTCCCCCTCCCCCTCCTCCCC CTCCTCCTCCCCTTCTCCTCCTCCTCCCCCTCCTCCTCCCCTTCTCCTCC CCTTTCTGCTCCTTCCCCTTCTCCTCCCCCTTCTCCTCCTCCTCCTCCTC CCCCTCCTCCACCTCCCCCTCCTCTCCTTCCCCTCTTCACCTTCTCCCCT CCCCTCCCCTCCTCCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(484): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGAAGGGGAGGAGGAGGGGGAGGAGGGGGAGGGGGAGGGGGGGAGGAG GGGGGGGGGGAGGAGGGGGGGGGAGGGGGGGAGGAGGAGGGGGGGAGGAG GGGGGGAGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGA GGGGGAGGGGGAGGGGGAGGGGGAGGAGGGGGAGGAGGAGGGGGAGGAGG AGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAG GAGGAGGAGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGG AGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0193 a0001c0001t0002g0193	1	183	0.0055	491	c.125 others(512): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCTCCCCTCCT CCTCCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCT CCTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCC CCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCCCC TCCCCCTCCCCCTCCCCCTCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCCTCCTCCCCCCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCCCC CCCCTCCTCCCCCCCCCCCTCCTCCCCCCCTCCCCCTCCCCCTCCTCCCC CTCCTCCTCCCCTTCTCCTCCTCCTCCCCCTCCTCCTCCCCTTCTCCTCC CCTTTCTGCTCCTTCCCCTTCTCCTCCCCCTTCTCCTCCTCCTCCTCCTC CCCCTCCTCCACCTCCCCCTCCTCTCCTTCCCCTCTTCACCTTCTCCCCT CCCCTCCCCTCCTCCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
ALK_chr2_29187774_29926586	29831109	A A	AGGAGGAG others(484): Show AGGAGGAGGAGCAGGAGGAGCAGGAGCAGGAGCAGGAGCAGGAGGAGGAG GAGGAGCAGGAGGAGGAGGAGCAGGAGGAGGAGGAGCAGGAGGAGGAGGA GCAGGAGGAGGAGGAGCAGGAGCAGGAGCAGGAGGAGGAGGAGGAGCAGG AGGAGGAGGAGCAGGAGGAGGAGGAGCAGGAGCAGGAGCAGGAGCAGGAG GAGGAGGAGGAGCAGGAGGAGGAGGAGCAGGAGGAGGAGGAGCAGGAGGA GGAGGAGCAGGAGGAGGAGGAGCAGGAGCAGGAGCAGGAGCAGGAGGAGG AGGAGGAGCAGGAGGAGGAGGAGCAGGAGGAGGAGGAGCAGGAGGAGGAG GAGGAGCAGGAGCAGGAGGAGGAGGAGGAGGAGCAGGAGCAGGAGCAGGA GCAGGAGCAGGAGCAGGAGCAGAAGCAGAAGCAGCAGAAGCAGCAGAAGC AGAAGCAACAGAAGAAGAAGCAGAAGCAGAAGAAGCAGAAGC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02451.hp2 HG02055.hp2 HG02451.hp2	a0001 a0003 a0001 a0003	a0001c0025 a0003c0024 a0001c0025 a0003c0024	a0001c0025t0011 a0003c0024t0009 a0001c0025t0011 a0003c0024t0009	a0001c0025t0011g0074 a0003c0024t0009g0075 a0001c0025t0011g0074 a0003c0024t0009g0075	2	78	0.0256	491	c.667 others(510): Show c.667+88883_667+88884insGCTTCTGCTTCTTCTGCTTCTGCTTC TTCTTCTGTTGCTTCTGCTTCTGCTGCTTCTGCTGCTTCTGCTTCTGCTC CTGCTCCTGCTCCTGCTCCTGCTCCTGCTCCTGCTCCTCCTCCTCCTCCT CCTGCTCCTGCTCCTCCTCCTCCTCCTGCTCCTCCTCCTCCTGCTCCTCC TCCTCCTGCTCCTCCTCCTCCTCCTGCTCCTGCTCCTGCTCCTGCTCCTC CTCCTCCTGCTCCTCCTCCTCCTGCTCCTCCTCCTCCTGCTCCTCCTCCT CCTGCTCCTCCTCCTCCTCCTGCTCCTGCTCCTGCTCCTGCTCCTCCTCC TCCTGCTCCTCCTCCTCCTGCTCCTCCTCCTCCTCCTGCTCCTGCTCCTG CTCCTCCTCCTCCTGCTCCTCCTCCTCCTGCTCCTCCTCCTCCTGCTCCT CCTCCTCCTGCTCCTCCTCCTCCTCCTGCTCCTGCTCCTGCTCCTGCTCC TCCTGCTCCTCCTCC	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	1/28			chr2	TogoVar
AMER2_chr13_25156679_25177288	25159099	T T	TATATATA others(484): Show TATATATATAATATATATTACATGTATATATTATATATTATATGTTTATA TATTATATGTATATATGTATATATTATATATTATATATTGTATATTATAT ATTATATATATTATATACATATAATATATATTCTCATATATATTATATAT ACTCATATATATAATATATATTCTCATATATATATATTATATATTCTCAT ATATATAATATATATATTCTCATATATAATATATATTCTCATATATATAA TATATACTCATATATTATATATATTCTCATATATTATATATATACTCATA TATAATGTATATATTCTAATATATAATATATATTTTCTCATTTATATAAT ATATATTCTCATATATAATATATATTCTCATATATGACATATTATATATA TTCTCATATATATTATATATTCTCATATATAATATATATTCTCATATAAT ATATTATATATTCTCATATAATATATTATATATTCTCATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00597.hp1 NA18941.hp2 HG00408.hp1 HG00597.hp1 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0000 a0001c0001t0004g0000	3	12	0.2500	491	c.10 others(504): Show c.10504_*10505insTATATGAGAATATATAATATATTATATGAGAA TATATAATATATTATATGAGAATATATATTATATATGAGAATATATAATA TATATGAGAATATATATAATATGTCATATATGAGAATATATATTATATAT GAGAATATATATTATATAAATGAGAAAATATATATTATATATTAGAATAT ATACATTATATATGAGTATATATATAATATATGAGAATATATATAATATA TGAGTATATATTATATATATGAGAATATATATTATATATGAGAATATATA TATTATATATATGAGAATATATAATATATATATATGAGAATATATATTAT ATATATGAGTATATATAATATATATGAGAATATATATTATATGTATATAA TATATATAATATATAATATACAATATATAATATATAATATATACATATAT ACATATAATATATAAACATATAATATATAATATATACATGTAATATATAT TATATATAT	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2579		chr13	TogoVar
ANKLE2_chr12_132720503_132766832	132729611	T T	TGAGGGGA others(484): Show TGAGGGGAGGGGGAGGAGGAGGTGAGGGGAGTGGAAGGGTGGGAGGGGAG GGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGGACGGGTGGGAGGGGG AGGGGGAGGGGAGGGGGGGAGGGGGAGGGGAGGGTGGGAGGGGGAGGGGA GGGGAAGGTGAGGGGAGGAGGAGGAGAGGGGAGTGGATGGGTGGGAGGGG AGGGGGAGGGGGAGGGGAGGGGAGTCGACGAGTGGGAGGGGAGGGGAAGG TGAGGGGAGGGGGAGGGGAGGGGAGGGGGGGTGGGAGGGGAGGGGGAGGG TGGGAGGGGAGGGGGAGGGGAGGATGGGAGGGGAGGGGGAGGGGAGGATG GGAGGGGAGGGGGAGGGGAGGGGAAGGTGAGAGAAGGGGGAGGGGAAGGC GAGGGGAAGGCGAGGGGAGGGGGAGGGGAAGGCGAGGGGAGGGGGAGGGG GAGGCGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0028 a0002c0002t0001g0028	1	137	0.0073	491	c.248 others(506): Show c.2483+67_2483+68insCCCTCCCCCTCCCCTCCCCTCCCCTCCCCC TCCCCTCGCCTCCCCCTCCCCCTCCCCTCGCCTTCCCCTCCCCCTCCCCT CGCCTTCCCCTCGCCTTCCCCTCCCCCTTCTCTCACCTTCCCCTCCCCTC CCCCTCCCCTCCCATCCTCCCCTCCCCCTCCCCTCCCATCCTCCCCTCCC CCTCCCCTCCCACCCTCCCCCTCCCCTCCCACCCCCCCTCCCCTCCCCTC CCCCTCCCCTCACCTTCCCCTCCCCTCCCACTCGTCGACTCCCCTCCCCT CCCCCTCCCCCTCCCCTCCCACCCATCCACTCCCCTCTCCTCCTCCTCCC CTCACCTTCCCCTCCCCTCCCCCTCCCACCCTCCCCTCCCCCTCCCCCCC TCCCCTCCCCCTCCCCCTCCCACCCGTCCACTCCCCTCACCTCCCCCTCC CCTCACCTCCCCCTCCCCTCCCACCCTTCCACTCCCCTCACCTCCTCCTC CCCCTCCCCTC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132729611	T T	TGAGGGGA others(484): Show TGAGGGGAGGGGGAGGAGGAGGTGAGGGGAGTGGAAGGGTGGGAGGGGAG GGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGGACGGGTGGGAGGGGG AGGGGGAGGGGAGGGTGGGAGGGGGAGGGGAGGGGAAGGTGAGGGGAGGG GAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGGGGGAGGGGGAGGGGAGT CGACGAGTGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGGTGGGAGGGGA GGGGGAGGGTGGGAGGGGAGGGGGAGGGTGGGAGGGGAGGGGAGGGTGGG AGGGGAGGGGGAGGGGAGGATGGGAGGGGAGGGGGAGGGGAGGGGAAGGT GAGAGAAGGGGGAGGGGAAGGCGAGGGGAAGGCGAGGGGAGGGGGAGGGG AAGGCGAGGGGAGGGGAGGGGGAGGGGGAGGCGAGGGGAGGGGGAGGGGA AGGCGAGGGGAGGGGGAGGGGGAGGCGAGGGGAGGGGGAGGG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	137	0.0073	491	c.248 others(506): Show c.2483+67_2483+68insCCCTCCCCCTCCCCTCGCCTCCCCCTCCCC CTCCCCTCGCCTTCCCCTCCCCCTCCCCTCGCCTCCCCCTCCCCCTCCCC TCCCCTCGCCTTCCCCTCCCCCTCCCCTCGCCTTCCCCTCGCCTTCCCCT CCCCCTTCTCTCACCTTCCCCTCCCCTCCCCCTCCCCTCCCATCCTCCCC TCCCCCTCCCCTCCCACCCTCCCCTCCCCTCCCACCCTCCCCCTCCCCTC CCACCCTCCCCCTCCCCTCCCACCCCCCCTCCCCTCCCCTCCCCCTCCCC TCCCACTCGTCGACTCCCCTCCCCCTCCCCCTCCCCTCCCACCCATCCAC TCCCCTCTCCTCCCCTCCCCTCACCTTCCCCTCCCCTCCCCCTCCCACCC TCCCCTCCCCCTCCCCCTCCCACCCGTCCACTCCCCTCACCTCCCCCTCC CCTCACCTCCCCCTCCCCTCCCACCCTTCCACTCCCCTCACCTCCTCCTC CCCCTCCCCTC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar
ARHGAP39_chr8_144524179_144690846	144687156	C C	CCCCGTGA others(484): Show CCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCTGTGACCACAC ACTGGCGGCGAGCACTTCCCACCCCGTGACCACTCATTTACAGCGAGCAC TTCTCACCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCCGTGA CCACACACTGGCGGCGAGCACTTCCCACCCCGTGACCACACACTAGCGGT GAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCC CGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTA GCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCC CACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACA CACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCA CTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0007 a0003c0009t0001g0007	1	226	0.0044	491	c.-15 others(502): Show c.-1553_-1552insTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGG GTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCAC CGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTC ACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTG CTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTG TGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGG AAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCCA GTGTGTGGTCACGGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGG GGTGAGAAGTGCTCGCTGTAAATGAGTGGTCACGGGGTGGGAAGTGCTCG CCGCCAGTGTGTGGTCACAGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGG TCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1311		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687228	C C	CCCCGTGA others(484): Show CCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACA CTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACT TCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCCGTGAC CACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTG AGCACTTCCCACCCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCC CGTGACCACTCATTTACAGCGAGCACTTCCCACCCCGTGACCACACACTA GCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCC CACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACA CATTTACAGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCA CTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	209	0.0048	491	c.-16 others(502): Show c.-1625_-1624insTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGG GTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCAC TGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTC ACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTG CTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCTGTAAATGAG TGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGGTGG GAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCC AGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACG GGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTC ACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGG TCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1383		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687228	C C	CCCCTGTG others(484): Show CCCCTGTGACCACGCACTGGCGGTGAGCACTTCCCACCCCGTGACCACTC ATTTACAGCGAGCACTTCTCACCCCCGTGACCACACACTAGCGGTGAGCA CTTCCCACCCCGTGACCACTCATTTACAGCGAGCACTTCCCACCCCGTGA CCACACACTGGCGGCGAGCACTTCCCACCCCGTGACCACACACTAGCGGT GAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCC CGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTA GCGGTGAGCACTTCCCACCCCGTGACCACTCATTTACAGCGAGCACTTCC CACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACA CACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCA CTTCCCACCCCGTGACCACACATTTACAGTGAGCACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	209	0.0048	491	c.-16 others(502): Show c.-1625_-1624insTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGG GTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCAC CGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTC ACGGGGTGGGAAGTGCTCGCTGTAAATGAGTGGTCACGGGGTGGGAAGTG CTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTG TGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGG AAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCCA GTGTGTGGTCACGGGGTGGGAAGTGCTCGCTGTAAATGAGTGGTCACGGG GTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGGTGAGAAGTGCTCG CTGTAAATGAGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGCGTGGT CACAGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1383		chr8	TogoVar
ARL13A_chrX_100964708_100995831	100972833	G G	GGGCGGGG others(484): Show GGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCC GGGTGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACACCCCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGG GCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCAGGCGGGGGGCTAACCCCCCCACCTCCCTCCCAGACGGGGC GGCTGGCCGGGTGGGAGGGCTGACCCCCCCCATCTCCCTCCC	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	2	0.5000	491	c.-14 others(506): Show c.-14-841_-14-840insCGGGGGGGCTGACCCCCCCACCTCCCTCCC AGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCA GGGGGGCTGACACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCC CTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTAACCCCCCCACC TCCCTCCCAGACGGGGCGGCTGGCCGGGTGGGAGGGCTGACCCCCCCCAT CTCCCTCCCGG	ARL13A	ENSG00000174225.15	transcript	ENST00000450049.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
B3GNTL1_chr17_82937149_83056770	83047659	C C	CTTAGGTC others(484): Show CTTAGGTCTATAATAAATCCTACCAAAGAATAAGAAATTTAGGTCTATAA TAAATCCTTACCAAAGAATAAGAAATTTAGGTCTATAATAAATCCCTACC AAAGAATAAGAAATTTAGGTCTATAATAAATCCCTACCAAAGAATAAGAA ATTTAGGTCTATAATAAATCCCTACCAAAGAATAAGAAATTTAGGTCTAT AATAAATCCTTACCAAAGAATAAGAAATTTAGGTCTATAATAAATCCCTA CCAAAGAATAAGAAATTTAGGTCTATAATAAATCCCTACCAAAGAATAAG AAACTTAGGTCTATAATAAATCCTACCAAAGAATAAGAAACTTAGGTCTA TAATAAATCCTACCAAAGAATAAGAAACTTAGGTCTATAATAAATCCCTA CCAAAGAATAAGAAATTTAGGTCTATAATAAATCCCTACCAAAGAATAAG AAACTTAGGTCTATAATCAATCCTTATCAAAGAACAAGAAAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02280.hp1 HG02451.hp1 others(2): Show HG00423.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0010 a0001c0003 a0002c0010	a0001c0003t0004 a0001c0003t0015 a0002c0010t0007 a0001c0003t0004 a0001c0003t0015 a0002c0010t0007	a0001c0003t0004g0187 a0001c0003t0004g0197 a0001c0003t0015g0194 others(2): Show a0001c0003t0004g0187 a0001c0003t0004g0197 a0001c0003t0015g0194 a0001c0003t0015g0195 a0002c0010t0007g0196	5	197	0.0254	491	c.232 others(506): Show c.232+811_232+812insATTTCTTGTTCTTTGATAAGGATTGATTAT AGACCTAAGTTTCTTATTCTTTGGTAGGGATTTATTATAGACCTAAATTT CTTATTCTTTGGTAGGGATTTATTATAGACCTAAGTTTCTTATTCTTTGG TAGGATTTATTATAGACCTAAGTTTCTTATTCTTTGGTAGGATTTATTAT AGACCTAAGTTTCTTATTCTTTGGTAGGGATTTATTATAGACCTAAATTT CTTATTCTTTGGTAGGGATTTATTATAGACCTAAATTTCTTATTCTTTGG TAAGGATTTATTATAGACCTAAATTTCTTATTCTTTGGTAGGGATTTATT ATAGACCTAAATTTCTTATTCTTTGGTAGGGATTTATTATAGACCTAAAT TTCTTATTCTTTGGTAGGGATTTATTATAGACCTAAATTTCTTATTCTTT GGTAAGGATTTATTATAGACCTAAATTTCTTATTCTTTGGTAGGATTTAT TATAGACCTAA	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	3/12			chr17	TogoVar
B4GALNT4_chr11_364499_387117	374880	G G	GAGGGAGG others(484): Show GAGGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAAGGGAGGGAG GAGGAAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGG GAGGAGGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGA GGGAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAG GAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA AGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGA GGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAG GGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19081.hp1 NA19057.hp2 NA19081.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0159 a0002c0002t0001g0163 a0002c0002t0001g0159 a0002c0002t0001g0163	2	110	0.0182	491	c.784 others(506): Show c.784-574_784-573insAAGGGAGGGAGGGAGGAGGAAGGGAGGGAG GAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAGG GAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAG GAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGG GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGA GGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAG GAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
C20orf96_chr20_265863_295750	279069	A A	AGGGAGGG others(484): Show AGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGACGGAGGGCGGGAC GGCGGGAGGGCGGGACGGAGGGACGGAGGGAGGGCGGGACGGAGGGCGGG AGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGACGGAGGGAGGGAG GGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGACGGAGGGAGGGAGGG CGGGACGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGCGGGAGGGCG GGACGGAGGGACGGAGGGAGGGCGGGACGGAGGGCGGGAGGGAGGGAGGG CGGGACGGAGGGAGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAG GGAGGGACGGAGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGCGGG ACGGAGGGAGGGAGGGCGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGG GCGGGAGGGATGGAGGGAGGGAGGGCGGGACGGAGGGAGGGC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0189 a0002c0004t0001g0189	1	274	0.0036	491	c.465 others(506): Show c.465+102_465+103insGCCCTCCCTCCGTCCCGCCCTCCCTCCCTC CATCCCTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGCCCT CCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCC CTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCT CCCTCCGTCCCGCCCTCCCTCCCTCCCGCCCTCCGTCCCGCCCTCCCTCC GTCCCTCCGTCCCGCCCTCCCGCCGTCCCGCCCTCCGTCCCTCCCTCCCT CCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCC CTCCGTCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCT CCGTCCCGCCCTCCCGCCCTCCGTCCCGCCCTCCCTCCGTCCCTCCGTCC CGCCCTCCCGCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCG CCCTCCCTCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
CACNA1C_chr12_2047987_2702950	2539219	T T	TAAAGATG others(484): Show TAAAGATGCAGGCAGGGTTTAAGGACTTAACGAGGGCTTCATAAAGATGC AGGCAGGGTTTAAGGACTTAACGAGGGCTTCATAAAGATGCAGGCAGGGT TTAAGGACTTAAGGAGGGTTTCATAAAGATGCAGGCAGGGTTTAAGGACT TAAGGAGGGCTTCATAAAGATGCAGGCAGGGGGCCGGGCGCGGTGGCTCA CGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGC TACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0027 a0001c0021t0027	a0001c0021t0027g0087 a0001c0021t0027g0087	1	103	0.0097	491	c.139 others(512): Show c.1391-10695_1391-10694insCGAGGGCTTCATAAAGATGCAGGC AGGGTTTAAGGACTTAACGAGGGCTTCATAAAGATGCAGGCAGGGTTTAA GGACTTAAGGAGGGTTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAG GAGGGCTTCATAAAGATGCAGGCAGGGGGCCGGGCGCGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG AGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT TGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGCAGGC AGGGTTTAAGGACTTAA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1H_chr16_1148106_1226768	1185638	C C	CGAGTAGA others(484): Show CGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGG TGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAG TAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGG TGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGC GGGCGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGC GAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGT GAGTAGACGGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGT AGACGGCATGTGTAGGGGCTGGAGGCGGGGTGTGTACGGGGCGGGTGAGT AGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02280.hp2 HG02109.hp2 HG02280.hp2	a0003 a0049 a0003 a0049	a0003c0022 a0049c0065 a0003c0022 a0049c0065	a0003c0022t0026 a0049c0065t0007 a0003c0022t0026 a0049c0065t0007	a0003c0022t0026g0025 a0049c0065t0007g0201 a0003c0022t0026g0025 a0049c0065t0007g0201	2	178	0.0112	491	c.300 others(508): Show c.300-9324_300-9323insCATGTGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCAGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGT ACGTGGGGGGCGGGCGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGT GTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTACGTGGGG GGCGGGCGAGTAGACGGCATGTGTAGGGGCTGGAGGCGGGGTGTGTACGG GGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCA GGTGAGTAGACGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAMKK2_chr12_121232692_121301709	121255344	A A	ATATATAT others(484): Show ATATATATATAATTTTATATATAATTATATATATAATTTTATATATAATT ATATATATAATTTTATATATAATTATATATATAATTTTATATATATATAA TTATATATATAATTATATATATATAATTATATATATTATATAATTTTATA TATATAATTATATATATTATATAATTATATATAATTTTATATATATATAA TTATATATACAATTTTATAATATATATAATTATATATACAATTATATATA TATATAATTATATATATAATTATATATATATAATTGTATATATAATTTTA TATATATATAATTATATATATAATTATATATATATAATTATATATATTTA TATATATATATAATTATATATATAATTATATATATAAAATTATATATATA ATTATATATATATAATTATATATATAATTTTATATATATAATTTTATATA ATTTTATATATAATTATATATATAATTTTATATATATAATTT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0006 a0004c0005t0002g0006	1	249	0.0040	491	c.907 others(506): Show c.907+205_907+206insAAATTATATATATAAAATTATATATATAAT TATATATAAAATTATATAAAATTATATATATAAAATTATATATATAATTA TATATATATAATTATATATATAATTTTATATATATAATTATATATATAAT TATATATATATATAAATATATATAATTATATATATATAATTATATATATA ATTATATATATATAAAATTATATATACAATTATATATATATAATTATATA TATAATTATATATATATATAATTGTATATATAATTATATATATTATAAAA TTGTATATATAATTATATATATATAAAATTATATATAATTATATAATATA TATAATTATATATATAAAATTATATAATATATATAATTATATATATATAA TTATATATATAATTATATATATATAAAATTATATATATAATTATATATAA AATTATATATATAATTATATATAAAATTATATATATAATTATATATAAAA TTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAPN11_chr6_44153820_44189401	44182049	A A	ACACACAC others(484): Show ACACACACACATACAGACACAACCACACACACACACACACATACACACTC ACATACAGACACAACCACACCACACTCACACACACACACTCACATACAGA CACAACCACACCACACTCACACACACACACACTCACATACAGACAACCAC ACCACACACACACACTCACATACAGACACAACCACACCACACTCACACAC ACACACTCACATACAGACACAACCACACCACACTCACACACACACACACT CACATACAGACACAACCACACCACACTCACACACACACACACTCACATAC AGACACAACCACACCACACACACACATACACACTCACATACAGACACAAC CACACCACACTCACACACACACACTCACATACAGACACAACCACACCACA CTCACACACACACACTCACATACAGACACAACCACACCACACTCACACAC ACACACTCACATACAGACACAACCACACCACACACACACACT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	316	0.0032	491	c.193 others(508): Show c.1938+733_1938+734insCACACATACAGACACAACCACACACACA CACACACATACACACTCACATACAGACACAACCACACCACACTCACACAC ACACACTCACATACAGACACAACCACACCACACTCACACACACACACACT CACATACAGACAACCACACCACACACACACACTCACATACAGACACAACC ACACCACACTCACACACACACACTCACATACAGACACAACCACACCACAC TCACACACACACACACTCACATACAGACACAACCACACCACACTCACACA CACACACACTCACATACAGACACAACCACACCACACACACACATACACAC TCACATACAGACACAACCACACCACACTCACACACACACACTCACATACA GACACAACCACACCACACTCACACACACACACTCACATACAGACACAACC ACACCACACTCACACACACACACTCACATACAGACACAACCACACCACAC ACACACACTCACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(484): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCC TCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCC CTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCT CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTC CTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0198 a0001c0001t0004g0198	1	12	0.0833	491	c.-45 others(512): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCC CCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCC TCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCC CTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CTCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCC TCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CNOT3_chr19_54132762_54160681	54133829	C C	CTCCCTCC others(484): Show CTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACC TCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCC TCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTC TCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCAC CTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCT CTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCT CTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTC CCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCA CCTCCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTC CCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0027 a0001c0002t0001g0027	1	68	0.0147	491	c.-42 others(502): Show c.-4215_-4214insTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCC CTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCT CTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTC TCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTC CCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCC TCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCT CCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCT CCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCT CCCTCCCTCTCTCCACCTCCCCTGTCTCCACCTCCCCTCCCTCTGTCCCT CCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCT CTCTCTG	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3932		chr19	TogoVar
COL19A1_chr6_69861556_70217468	69920974	G G	GTATATTC others(484): Show GTATATTCATATATATATTCATATGTATATTCATATATATGATATATATC ATATATACATATGATATATACATGATATATATGATATATATGATATATAT GATATATATATGATACATATGATACATATGATATATATGATATATATATG ATACAAATGATATATATGATATATATGATATATATCAGATATATATATCA TATATATCATATATATCATTTGTATCATATATATATCATATATATCATAT GTATCATATATATCATGTATATATCATATATATCATATATATCATATATG TATTCATATATATCATATATATTCATATATATCATATATTCATATATATC ATATATATTCATATATATCATATATTCATATATATCATATATATTCATAT ATATATCATATATATTCATATATATATCATATATATTCATATATATATCA TATATATTCATATATATATCATATATATTCATATATATCATA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01257.hp1 HG01361.hp2 others(2): Show HG01192.hp1 HG01257.hp1 HG01361.hp2 HG01496.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0002t0002 a0001c0005t0007 a0001c0001t0001 a0001c0002t0002 a0001c0005t0007	a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0080 others(2): Show a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0080 a0001c0002t0002g0055 a0001c0005t0007g0063	5	8	0.6250	491	c.267 others(508): Show c.267-6912_267-6911insGTATATTCATATATATGATATATATCAT ATATACATATGATATATACATGATATATATGATATATATGATATATATGA TATATATATGATACATATGATACATATGATATATATGATATATATATGAT ACAAATGATATATATGATATATATGATATATATCAGATATATATATCATA TATATCATATATATCATTTGTATCATATATATATCATATATATCATATGT ATCATATATATCATGTATATATCATATATATCATATATATCATATATGTA TTCATATATATCATATATATTCATATATATCATATATTCATATATATCAT ATATATTCATATATATCATATATTCATATATATCATATATATTCATATAT ATATCATATATATTCATATATATATCATATATATTCATATATATATCATA TATATTCATATATATATCATATATATTCATATATATCATATATATTCATA TATATATTCATAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL6A1_chr21_45976770_46010048	45988091	T T	TCGGGGCT others(484): Show TCGGGGCTCCAGATGGAGGGGACGGCGGGGCTCCAGATGGAGGGGACGGC GGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGG GTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGTGGTC CAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAG ATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGG AGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGG GACGGCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGA CGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTC GGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGG GTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGG	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0056 a0002c0002t0001g0056	1	58	0.0172	491	c.804 others(506): Show c.804+465_804+466insGCTCCAGATGGAGGGGACGGCGGGAGTCCA GATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATG GAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAG GGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGG ACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGG CGTGGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGG GCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGT CCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCA GATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATG GAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGCTCCAGATGGAG GGGACGGCGGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
CRELD2_chr22_49913634_49932537	49926595	G G	GCCTCTTG others(484): Show GCCTCTTGCCCCCTCCCTCCCCCCACCACGTCGGTCCCCTCTTGCCCCTC CCTCCCCCCCCCACCCCGGGTCCCCTCTTGCCCGCTCCCGTCCCCCCCCT CCCCGGGTCCCCTCTTGCCCTCCCTCCCCCCCCCCCCCGTCCCCTCTTTC TCCTCCCCCATCCCCCCCACCCTCGGTCCCCTCTTGCCCCTCCCCTCCCC CCCCACCCCGGGTCCCCTCTTGCCCTCCCCCTCCCCTCCCCCCCCCCACC CCGGGTCCCCCTCTTGCCCCTCCCTCCCCCCCCACCCCGGGTCCCCTCTT GCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCA CCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTG CCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCAC CCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCC	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0154 a0001c0003t0002g0154	1	322	0.0031	491	c.101 others(508): Show c.1010-649_1010-648insCTCCCTCCCCCCACCACGTCGGTCCCCT CTTGCCCCTCCCTCCCCCCCCCACCCCGGGTCCCCTCTTGCCCGCTCCCG TCCCCCCCCTCCCCGGGTCCCCTCTTGCCCTCCCTCCCCCCCCCCCCCGT CCCCTCTTTCTCCTCCCCCATCCCCCCCACCCTCGGTCCCCTCTTGCCCC TCCCCTCCCCCCCCACCCCGGGTCCCCTCTTGCCCTCCCCCTCCCCTCCC CCCCCCCACCCCGGGTCCCCCTCTTGCCCCTCCCTCCCCCCCCACCCCGG GTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTC CCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGG TCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCC CTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGT CCCCTCTTGCCCC	CRELD2	ENSG00000184164.15	transcript	ENST00000328268.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
CSMD1_chr8_2930361_4999914	3448345	G G	GAAGGAAG others(484): Show GAAGGAAGGAAGGAAGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGG GAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGAAGGAAGAAGGGAGGAAGG GAGGGGGAGGAGGGAGGAGGAAGGGAGGGGGGAGGGAGGGAGGGAGGAGG AAGGAAGGAAGGAAGAAGGAAGAAGGGAGGAAGGGAGGGGGAGGAGGGAG GAGGAAGGGAGGGGGGAGGGAGGGAGGGAGGAGGAAGGAAGGAAGGAAGA AGGAAGAAGGGAGGAAGGGAGGGGGAGGAGGGAGGAGGAAGGGAGGGGGG AGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGAAGGAAGAAGGGAGGA AGGGAGGGGGAGGAGGGAGGAGGAAGGGAGGGGGGAGGGAGGGAGGGAGG AGGAAGGAAGGAAGGAAGAAGGAAGAAGGGAGGAAGGGAGGGGGAGGAGG GAGGAGGAAGGGAGGGGGGAGGGAGGGAGGGAGGAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0023 a0023	a0023c0069 a0023c0069	a0023c0069t0043 a0023c0069t0043	a0023c0069t0043g0100 a0023c0069t0043g0100	1	61	0.0164	491	c.156 others(512): Show c.1561+20366_1561+20367insTCCTTCCTCCTCCCTCCCTCCCTC CCCCCTCCCTTCCTCCTCCCTCCTCCCCCTCCCTTCCTCCCTTCTTCCTT CTTCCTTCCTTCCTTCCTCCTCCCTCCCTCCCTCCCCCCTCCCTTCCTCC TCCCTCCTCCCCCTCCCTTCCTCCCTTCTTCCTTCTTCCTTCCTTCCTTC CTTCCTCCCTCCCTCCCTCCCCCCTCCCTTCCTCCTCCCTCCTCCCCCTC CCTTCCTCCCTTCTTCCTTCTTCCTTCCTTCCTTCCTCCTCCCTCCCTCC CTCCCCCCTCCCTTCCTCCTCCCTCCTCCCCCTCCCTTCCTCCCTTCTTC CTTCTTCCTTCCTTCCTTCCTCCTCCCTCCCTCCCTCCCCCCTCCCTTCC TCCTCCCTCCTCCCCCTCCCTTCCTCCCTTCTTCCTTCTTCCTTCCTTCC TTCCTTCCTCCCTCCCTCCCTCCTCCCTCCCTTCCTCCTCCCTCCCTCCC TTCTTCCTTCCTTCCTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
DIP2C_chr10_269201_694668	556156	G G	GCACCCAC others(484): Show GCACCCACCCCTCCCACAGCCAGATCCCAGGACGGCACCCACCCACCCCT CCCACAGCCGGATCCGAGGACAGCACCCACCCCTCCCACAGCCGGATCCC AGGACGGCACCCACCCACCCCTCCCACAGCCAGATCCCAGGACGGCACCC ACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCCTC CCACAGCCGGATCCCAGGACGGCACCCACCCACCCCTCCCACAGCCGGAT CCCAGGACGGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCA CCCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCC TCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCTCCCACAGCCGG ATCCCAGGACGGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACGG CACCCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	74	0.0135	491	c.86- others(508): Show c.86-69627_86-69626insGGTGCCGTCCTGGGATCCGGCTGTGGGA GGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGG TGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGG ATCCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGG GAGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTG GGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTG GGATCCGGCTGTGGGAGGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTG TGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCTGGCTGTGGGAGGGGTGG GTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGCTGTCCTCG GATCCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCTGGCTGTG GGAGGGGTGGGTG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	556156	G G	GCACCCAC others(484): Show GCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCT CCCACAGCCGGATCCGAGGACAGCACCCACCCCTCCCACAGCCGGATCCC AGGACGGCACCCACCCACCCCTCCCACAGCCAGATCCCAGGACGGCACCC ACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCCTC CCACAGCCGGATCCCAGGACGGCACCCACCCACCCCTCCCACAGCCGGAT CCCAGGACGGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCA CCCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCC TCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCTCCCACAGCCGG ATCCCAGGACGGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACGG CACCCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACC	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02602.hp1 NA18906.hp2 HG01515.hp1 HG02602.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0020 a0001c0001 a0001c0002 a0001c0020	a0001c0001t0003 a0001c0002t0001 a0001c0020t0008 a0001c0001t0003 a0001c0002t0001 a0001c0020t0008	a0001c0001t0003g0075 a0001c0002t0001g0080 a0001c0020t0008g0074 a0001c0001t0003g0075 a0001c0002t0001g0080 a0001c0020t0008g0074	3	76	0.0395	491	c.86- others(508): Show c.86-69627_86-69626insGGTGCCGTCCTGGGATCCGGCTGTGGGA GGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGG TGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGG ATCCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGG GAGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTG GGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTG GGATCCGGCTGTGGGAGGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTG TGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCTGGCTGTGGGAGGGGTGG GTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGCTGTCCTCG GATCCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTG GGAGGGGTGGGTG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar

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