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
APOA4_chr11_116815700_116828304	116818348	T T	TTATATAT others(99): Show TTATATATGAATATATATATGAATATATATATGAATATATATGAATATAT ATATGAATATATATATGAATATATATATGAATATATATATGAATATATAT ATGAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	462	0.0022	106	c.25 others(117): Show c.2518_*2519insTATTCATATATATATTCATATATATATTCATATA TATATTCATATATATATTCATATATATATTCATATATATTCATATATATA TTCATATATATATTCATATATA	APOA4	ENSG00000110244.7	transcript	ENST00000357780.5	protein_coding		2351		chr11	TogoVar
APOOL_chrX_84998877_85098315	85088190	A A	ATATTTAT others(99): Show ATATTTATACATATATATGTATAAATACATATACATATATGTGTACATAT ACATATTTATACATATATGTATAAATACATATTTATACATATATATGTAT AAATACT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0236 a0001c0001t0034g0236	1	256	0.0039	106	c.54 others(115): Show c.542_*543insTACATATATGTGTACATATACATATTTATACATATA TGTATAAATACATATTTATACATATATATGTATAAATACTTATTTATACA TATATATGTATAAATACATA	APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	9/9	543	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARHGAP10_chr4_147727088_148077776	147784806	A A	ATATTATA others(99): Show ATATTATAAAATATATATTATAAATATAAATATATTATAAAATATATATT ATAAATATATATTATAAATATATTATAAAATATATATTATAAATATATAT TATAAAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03225.hp1 HG02615.hp1 HG03225.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0003 a0001c0005 a0002c0003	a0001c0005t0001 a0002c0003t0001 a0001c0005t0001 a0002c0003t0001	a0001c0005t0001g0098 a0002c0003t0001g0096 a0001c0005t0001g0098 a0002c0003t0001g0096	2	106	0.0189	106	c.155 others(125): Show c.155-37921_155-37920insTATTATAAAATATATATTATAAATAT AAATATATTATAAAATATATATTATAAATATATATTATAAATATATTATA AAATATATATTATAAATATATATTATAAAT	ARHGAP10	ENSG00000071205.12	transcript	ENST00000336498.8	protein_coding	1/22			chr4	TogoVar
ARHGAP28_chr18_6724716_6920716	6841119	T T	TTCTCTCT others(99): Show TTCTCTCTCTCTCTCCTCTCTCACTGTCTCTCTCCTCTCTCTCTCTCCTC TCTCTCTCTCTCTCTCTCCTCTCTCACTGTCTCTCTCCTCTCTCTCTCTC CTCTCTC	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0131 a0002c0002t0002g0131	1	248	0.0040	106	c.543 others(123): Show c.543+3742_543+3743insCTCTCTCTCCTCTCTCTCTCTCTCTCTC TCCTCTCTCACTGTCTCTCTCCTCTCTCTCTCTCCTCTCTCTCTCTCTCT CTCTCCTCTCTCACTGTCTCTCTCCTCT	ARHGAP28	ENSG00000088756.13	transcript	ENST00000383472.9	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr18	TogoVar
ARHGAP32_chr11_128960060_129197325	129193575	T T	TAATATAT others(99): Show TAATATATTATATAATATATATTATATATAATATATAATATATTATATAA TATATATTATATATAATATATAATATATTATATAATATATATTATATATA ATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0010 a0002c0004t0010	a0002c0004t0010g0132 a0002c0004t0010g0132	1	398	0.0025	106	c.-13 others(117): Show c.-1378_-1377insTATATATTATATATAATATATATTATATAATATA TTATATATTATATATAATATATATTATATAATATATTATATATTATATAT AATATATATTATATAATATATT	ARHGAP32	ENSG00000134909.19	transcript	ENST00000682385.1	protein_coding		1251		chr11	TogoVar
ARHGAP39_chr8_144524179_144690846	144686964	C C	CGAGCACT others(99): Show CGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACC CCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCCGTGACCACACAT TTACAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0072 a0005c0011t0001g0072	1	246	0.0041	106	c.-13 others(117): Show c.-1361_-1360insACTGTAAATGTGTGGTCACGGGGGTGGGAAGTGC TCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGT GGTCACGGGGTGGGAAGTGCTC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1119		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687072	C C	CGAGCACT others(99): Show CGAGCACTTCCCACCCCGTGACCACTCATTTACAGCGAGCACTTCCCACC CCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCGTGACCACACAC TAGCAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	246	0.0041	106	c.-14 others(117): Show c.-1469_-1468insACTGCTAGTGTGTGGTCACGGGGTGGGAAGTGCT CGCCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCGCTGTAAATGAGT GGTCACGGGGTGGGAAGTGCTC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1227		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687156	C C	CCCCCGTG others(99): Show CCCCCGTGACCACTCATTTACAGCGAGCACTTCCCACCCCCGTGACCACG CACTGGCGGCGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCA CTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0217 a0001c0002t0022g0217	1	246	0.0041	106	c.-15 others(117): Show c.-1553_-1552insTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGG GTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGGGTGGGAAGTGCTCG CTGTAAATGAGTGGTCACGGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1311		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687319	G G	GGTGAGCA others(99): Show GGTGAGCACTTCCCACCCCGTGACCACACATTTACAGTGAGCACTTCCCA CCCCTGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACAC ATTTACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0164 a0001c0002t0001g0164	1	246	0.0041	106	c.-17 others(117): Show c.-1716_-1715insTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCA CCGCCAGTGTGTGGTCACAGGGGTGGGAAGTGCTCACTGTAAATGTGTGG TCACGGGGTGGGAAGTGCTCAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1474		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687405	A A	ACCCCGTG others(99): Show ACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACAC ATTTACAGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCAC TTCCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG02129.hp1 NA18997.hp1 others(2): Show HG00558.hp1 HG02129.hp1 NA18997.hp1 NA19009.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 others(2): Show a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0015g0180	5	246	0.0203	106	c.-18 others(117): Show c.-1802_-1801insGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGG GGTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCA CCGCCAGTGTGTGGTCACGGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1560		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687461	G G	GGTGAGCA others(99): Show GGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCA CCCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACAC ATTTACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0123	1	246	0.0041	106	c.-18 others(117): Show c.-1858_-1857insTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCA CCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCTAGTGTGTGG TCACGGGGTGGGAAGTGCTCAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1616		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687637	G G	GGTGAGCA others(99): Show GGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCA CCCCGTGACCACTCATTTACAGCGAGCACTTCCCACCCCCGTGACCACAC ACCAGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0028 a0001c0002t0009g0028	1	246	0.0041	106	c.-20 others(117): Show c.-2034_-2033insTGCTGGTGTGTGGTCACGGGGGTGGGAAGTGCTC GCTGTAAATGAGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGG TCACGGGGTGGGAAGTGCTCAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1792		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687652	C C	CCCCCGTG others(99): Show CCCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCCGTGACCACA CACTAGCAGTGAGCACTTCCCACCCCGTGACCACACATTTACAGTGAACA CTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01074.hp1 HG01081.hp1 others(24): Show HG00639.hp2 HG01074.hp1 HG01081.hp1 HG01358.hp2 HG01952.hp2 HG02148.hp1 HG02155.hp2 HG02486.hp2 HG02683.hp2 HG02735.hp2 HG02922.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03927.hp2 HG04204.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18969.hp2 NA18971.hp2 NA19009.hp1 NA19074.hp2 NA19082.hp2 NA20752.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0017 a0001c0018	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0023 a0001c0003t0001 a0001c0007t0003 a0001c0017t0001 a0001c0018t0001	a0001c0001t0001g0065 a0001c0001t0001g0097 a0001c0001t0001g0100 others(24): Show a0001c0001t0001g0065 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0122 a0001c0001t0001g0146 a0001c0001t0002g0123 a0001c0002t0001g0003 a0001c0002t0001g0066 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0094 a0001c0002t0001g0102 a0001c0002t0001g0104 a0001c0002t0001g0108 a0001c0002t0001g0114 a0001c0002t0001g0116 a0001c0002t0001g0160 a0001c0002t0001g0162 a0001c0002t0001g0164 a0001c0002t0023g0246 a0001c0003t0001g0110 a0001c0007t0003g0118 a0001c0017t0001g0101 a0001c0018t0001g0091	27	246	0.1098	106	c.-20 others(117): Show c.-2049_-2048insTGGGAAGTGTTCACTGTAAATGTGTGGTCACGGG GTGGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCA CCGCCAGTGTGTGGTCACGGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1807		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687652	C C	CCCCCGTG others(99): Show CCCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCCGTGACCACA CACTAGCGGTGAGCACTTCCCACCCCGTGACCACACATTTACAGTGAACA CTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0096 a0001c0002t0001g0096	1	246	0.0041	106	c.-20 others(117): Show c.-2049_-2048insTGGGAAGTGTTCACTGTAAATGTGTGGTCACGGG GTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCA CCGCCAGTGTGTGGTCACGGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1807		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687652	C C	CCCCCGTG others(99): Show CCCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCCGTGACCACA CACTGGCAGTGAGCACTTCCCACCCCGTGACCACACATTTACAGTGAACA CTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0161 a0001c0002t0001g0161	1	246	0.0041	106	c.-20 others(117): Show c.-2049_-2048insTGGGAAGTGTTCACTGTAAATGTGTGGTCACGGG GTGGGAAGTGCTCACTGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCA CCGCCAGTGTGTGGTCACGGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1807		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687784	G G	GCACTTCC others(99): Show GCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCC GTGACCACACACTAGCAGTGAGCACTTCCCACCCCGTGACCACACATTTA CAGTGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0118 a0001c0007t0003g0118	1	246	0.0041	106	c.-21 others(117): Show c.-2181_-2180insTTCACTGTAAATGTGTGGTCACGGGGTGGGAAGT GCTCACTGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTG TGTGGTCACGGGGTGGGAAGTG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1939		chr8	TogoVar
ARHGAP42_chr11_100682288_100998941	100779542	A A	ATATATAT others(99): Show ATATATATACGTATACATACGTATATATATACGTATACATACGTATATAT ATACGTATACATACGTATATATACGTATATATATACGTATACATACGTAT ATATACG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG04199.hp2 HG00738.hp1 HG04199.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0007 a0001c0001t0001 a0002c0004t0007	a0001c0001t0001g0076 a0002c0004t0007g0074 a0001c0001t0001g0076 a0002c0004t0007g0074	2	286	0.0070	106	c.250 others(123): Show c.250+9113_250+9114insGTATACATACGTATATATATACGTATAC ATACGTATATATATACGTATACATACGTATATATACGTATATATATACGT ATACATACGTATATATACGTATATATAC	ARHGAP42	ENSG00000165895.19	transcript	ENST00000298815.13	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
ARHGAP42_chr11_100682288_100998941	100779542	A A	ATATATAT others(99): Show ATATATATACGTATATATACGTATATATATACGTATACATACGTATATAT ATACGTATACATACGTATATATACGTATATATATACGTATACATACGTAT ATATACG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0083 a0002c0002t0004g0083	1	286	0.0035	106	c.250 others(123): Show c.250+9113_250+9114insGTATATATACGTATATATATACGTATAC ATACGTATATATATACGTATACATACGTATATATACGTATATATATACGT ATACATACGTATATATACGTATATATAC	ARHGAP42	ENSG00000165895.19	transcript	ENST00000298815.13	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
ARHGEF10_chr8_1818926_1963641	1824895	A A	ACTCCACC others(99): Show ACTCCACCTGTCCCCCCGCACTCCACCTGTCCCCCCGCACCCCACCTGTC CCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCCGCACCC CACCTGT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0007 a0001c0026t0007	a0001c0026t0007g0091 a0001c0026t0007g0091	1	363	0.0028	106	c.-48 others(121): Show c.-48+783_-48+784insTCCACCTGTCCCCCCGCACTCCACCTGTCC CCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCA CCTGTCCCCCCCGCACCCCACCTGTC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP11A_chr13_112685038_112892168	112804353	G G	GTTCCCCT others(99): Show GTTCCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCCATCCCCTCTCTGCC CTCCTTCCCCTCCTTTTCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCT GCCCTCC	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0039 a0001c0005t0001g0039	1	254	0.0039	106	c.163 others(121): Show c.163-570_163-569insCATCCCCTCTCTGCCCTCCTTCCCCTCCTT TTCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTC CTTCCCTCCTTCACCTCCCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112864598	A A	AGTAATTC others(99): Show AGTAATTCAGTGCAGGCCATGCAGCTTCCCAGCGGGGATCATCACCACGT GCGCCATAATTCAGCGTAGCACGTGTAGCTTCCCAGCGGGATCCATCACC ACATGGG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0043 a0001c0014t0043	a0001c0014t0043g0056 a0001c0014t0043g0056	1	254	0.0039	106	c.299 others(125): Show c.2991+2023_2991+2024insGTAATTCAGTGCAGGCCATGCAGCTT CCCAGCGGGGATCATCACCACGTGCGCCATAATTCAGCGTAGCACGTGTA GCTTCCCAGCGGGATCCATCACCACATGGG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	25/29			chr13	TogoVar
ATP11A_chr13_112685038_112892168	112864598	A A	AGTAATTC others(99): Show AGTAATTCAGTGCAGGCCATGCAGCTTCCCAGCGGGGATCATCACCACGT GTGCCATAATTCAGCGTAGCACGTGCAGCTTCCCAGCGGGATCCATCACC ACATGGG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp1 HG02559.hp1 others(6): Show HG01243.hp1 HG01891.hp1 HG02559.hp1 HG02970.hp1 HG02976.hp2 HG03516.hp1 HG03579.hp1 NA18522.hp2 NA19240.hp2	a0001 a0012 a0001 a0012	a0001c0002 a0001c0009 a0001c0047 others(1): Show a0001c0002 a0001c0009 a0001c0047 a0012c0044	a0001c0002t0003 a0001c0002t0016 a0001c0002t0034 others(6): Show a0001c0002t0003 a0001c0002t0016 a0001c0002t0034 a0001c0002t0047 a0001c0002t0053 a0001c0009t0004 a0001c0009t0049 a0001c0047t0016 a0012c0044t0001	a0001c0002t0003g0198 a0001c0002t0016g0209 a0001c0002t0034g0042 others(6): Show a0001c0002t0003g0198 a0001c0002t0016g0209 a0001c0002t0034g0042 a0001c0002t0047g0112 a0001c0002t0053g0116 a0001c0009t0004g0140 a0001c0009t0049g0141 a0001c0047t0016g0062 a0012c0044t0001g0069	9	254	0.0354	106	c.299 others(125): Show c.2991+2023_2991+2024insGTAATTCAGTGCAGGCCATGCAGCTT CCCAGCGGGGATCATCACCACGTGTGCCATAATTCAGCGTAGCACGTGCA GCTTCCCAGCGGGATCCATCACCACATGGG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	25/29			chr13	TogoVar
ATP11A_chr13_112685038_112892168	112864598	A A	AGTAATTC others(99): Show AGTAATTCAGTGCAGGCCATGCAGCTTCCCAGCGGGGATCATCACTACGT GCGCCATAATTCAGCGTAGCACGTGCAGCTTCCCAGCGGGATCCATCACC ACATGGG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0195 a0001c0004t0002g0195	1	254	0.0039	106	c.299 others(125): Show c.2991+2023_2991+2024insGTAATTCAGTGCAGGCCATGCAGCTT CCCAGCGGGGATCATCACTACGTGCGCCATAATTCAGCGTAGCACGTGCA GCTTCCCAGCGGGATCCATCACCACATGGG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	25/29			chr13	TogoVar
ATP9B_chr18_79064394_79383283	79356834	A A	ACCCTGTG others(99): Show ACCCTGTGTGAGGGGTGCTCTGGGTCTGGAGGTGTCCGTGTGAGGGACCC TGTGTGAGGGGTGCTCTGGGTCTGGAGGTGTCTGTGTGAGGGACCCTGTG TGAGGGG	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG03098.hp1 HG01358.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0140 a0001c0001t0001g0141	2	298	0.0067	106	c.290 others(125): Show c.2904-2520_2904-2519insCCCTGTGTGAGGGGTGCTCTGGGTCT GGAGGTGTCCGTGTGAGGGACCCTGTGTGAGGGGTGCTCTGGGTCTGGAG GTGTCTGTGTGAGGGACCCTGTGTGAGGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29			chr18	TogoVar
ATR_chr3_142444235_142583733	142496322	A A	ATATATAT others(99): Show ATATATATACATATATATATATATGTATATATATATACATGTATATATAT ATATATATATACACATATATATATATATGTATATATATATACATGTATAT ATATATG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0148 a0004c0009t0001g0148	1	322	0.0031	106	c.589 others(121): Show c.5898+38_5898+39insCATATATATATACATGTATATATATATACA TATATATATATATGTGTATATATATATATATATATACATGTATATATATA TACATATATATATATATGTATATATA	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	34/46			chr3	TogoVar
AUTS2_chr7_69593475_70798506	70003832	A A	ATAATATA others(99): Show ATAATATATATGAATGTGTTATATATGAATATATATAATATATATGAATG TGTTATATATGAATATATATAATATATATGAATGTGTTATATGTGAATAT ATATAAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp1 HG00280.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0071 a0001c0001t0003g0068 a0001c0001t0001g0071 a0001c0001t0003g0068	2	76	0.0263	106	c.522 others(127): Show c.522+104334_522+104335insTAATATATATGAATGTGTTATATA TGAATATATATAATATATATGAATGTGTTATATATGAATATATATAATAT ATATGAATGTGTTATATGTGAATATATATAAT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18			chr7	TogoVar
B3GNTL1_chr17_82937149_83056770	82968416	C C	CGGTGCAC others(99): Show CGGTGCACAGATGTCTGTCGGCAACAGGGAAGGGAGGCAGTCACCAGTGT GCACGGTGCACAGATGTCTGTCAGCAACAGTGAAGGGAGGCAGTAACCAG TGTGCAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA21309.hp1 HG02818.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0011 a0001c0003 a0001c0011	a0001c0003t0014 a0001c0011t0030 a0001c0003t0014 a0001c0011t0030	a0001c0003t0014g0194 a0001c0011t0030g0143 a0001c0003t0014g0194 a0001c0011t0030g0143	2	266	0.0075	106	c.460 others(123): Show c.460-2671_460-2670insATGCACACTGGTTACTGCCTCCCTTCAC TGTTGCTGACAGACATCTGTGCACCGTGCACACTGGTGACTGCCTCCCTT CCCTGTTGCCGACAGACATCTGTGCACC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
BOC_chr3_113206557_113292459	113236264	G G	GTATATAT others(99): Show GTATATATATACCCATGGGTATATATATATATATATATATATATATACCC ATGGGTATATATATATATATATATATATATATACCCATGGGTATATATAT ATATATA	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	386	0.0026	106	c.-81 others(125): Show c.-81-13457_-81-13456insATATATATACCCATGGGTATATATAT ATATATATATATATATATACCCATGGGTATATATATATATATATATATAT ATATACCCATGGGTATATATATATATATAT	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOC_chr3_113206557_113292459	113236284	A A	ATATATAT others(99): Show ATATATATATATATATATATATATATATATACCCATGGGTATATATATAT ATATATATATATATATACCCATGGGTATATATATATATATATATATATAC CCATGGG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01257.hp2 HG01261.hp1 others(3): Show HG00280.hp1 HG01257.hp2 HG01261.hp1 HG03540.hp1 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0082 a0001c0002t0001g0087 a0001c0002t0001g0098 others(3): Show a0001c0002t0001g0082 a0001c0002t0001g0087 a0001c0002t0001g0098 a0001c0002t0001g0154 a0001c0002t0001g0299 a0001c0002t0001g0300	6	386	0.0155	106	c.-81 others(125): Show c.-81-13410_-81-13409insTACCCATGGGTATATATATATATATA TATATATATATACCCATGGGTATATATATATATATATATATATACCCATG GGTATATATATATATATATATATATATATA	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOC_chr3_113206557_113292459	113236286	A A	ATATATAT others(99): Show ATATATATATATATATATATATATATACCCATGGGTATATATATATATAT ATATATATATACCCATGGGTATATATATATATATATATATATATATATAC CCATGGG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0035 a0002c0004t0035	a0002c0004t0035g0137 a0002c0004t0035g0137	1	386	0.0026	106	c.-81 others(125): Show c.-81-13403_-81-13402insGTATATATATATATATATATATATAT ACCCATGGGTATATATATATATATATATATATATATATACCCATGGGTAT ATATATATATATATATATATATACCCATGG	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOC_chr3_113206557_113292459	113236288	A A	ATATATAT others(99): Show ATATATATATATATATATATATATACCCATGGGTATATATATATATATAT ATATATATATATACCCATGGGTATATATATATATATATATATATATATAC CCATGGG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0020 a0001c0009t0020	a0001c0009t0020g0183 a0001c0009t0020g0183	1	386	0.0026	106	c.-81 others(125): Show c.-81-13403_-81-13402insGTATATATATATATATATATATATAT ATATACCCATGGGTATATATATATATATATATATATATATACCCATGGGT ATATATATATATATATATATATACCCATGG	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BRF1_chr14_105204286_105306001	105276932	G G	GGGCCCTC others(99): Show GGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCTGAG AGGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCC GAGAGGC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	72	0.0139	106	c.266 others(123): Show c.266-4039_266-4038insGCCTCTCGGCTCCTTCTCACTGTGGCCT CCTCCCCAGCTCTCTAGTGAGGGCCGCCTCTCAGCTCCTTCTCACTGTGG CCTCCTCCCCAGCTCTCTAGTGAGGGCC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105276985	G G	GGGCCCTC others(99): Show GGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCCGAG AGGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCC GAGAGGC	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	72	0.0139	106	c.266 others(123): Show c.266-4197_266-4092dupGCCTCTCGGCTCCTTCTCACTGTGGCCT CCTCCCCAGCTCTCTAGTGAGGGCCGCCTCTCGGCTCCTTCTCACTGTGG CCTCCTCCCCAGCTCTCTAGTGAGGGCC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105277190	T T	TGAGAGGG others(99): Show TGAGAGGGGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGG AGCCGAGAGGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGA AGGAGCC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	72	0.0139	106	c.266 others(123): Show c.266-4297_266-4296insGGCTCCTTCTCACTGTGGCCTCCTCCCC AGCTCTCTAGTGAGGGCCGCCTCTCGGCTCCTTCTCACTGTGGCCTCCTC CCCAGCTCTCTAGTGAGGGCCCCCTCTC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105277243	T T	TGAGAGGC others(99): Show TGAGAGGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGG AGCCGAGAGGGGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGA AGGAGCC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	72	0.0139	106	c.266 others(123): Show c.266-4350_266-4349insGGCTCCTTCTCACTGTGGCCTCCTCCCC AGCTCTCTAGTGAGGGCCCCCTCTCGGCTCCTTCTCACTGTGGCCTCCTC CCCAGCTCTCTAGTGAGGGCCGCCTCTC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105277243	T T	TGAGAGGG others(99): Show TGAGAGGGGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGG AGCCGAGAGGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGA AGGAGCC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	72	0.0139	106	c.266 others(123): Show c.266-4350_266-4349insGGCTCCTTCTCACTGTGGCCTCCTCCCC AGCTCTCTAGTGAGGGCCGCCTCTCGGCTCCTTCTCACTGTGGCCTCCTC CCCAGCTCTCTAGTGAGGGCCCCCTCTC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105277455	T T	TGAGAGGC others(99): Show TGAGAGGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGG AGCCGAGAGGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGA AGGAGCC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01175.hp2 HG01123.hp1 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0050 a0001c0001t0001g0052	2	72	0.0278	106	c.266 others(123): Show c.266-4562_266-4561insGGCTCCTTCTCACTGTGGCCTCCTCCCC AGCTCTCTAGTGAGGGCCGCCTCTCGGCTCCTTCTCACTGTGGCCTCCTC CCCAGCTCTCTAGTGAGGGCCGCCTCTC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105277581	A A	AGAGCTGG others(99): Show AGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCCGAGAGGCGGCCCTCAC TAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCCGAGAGGGGGCCCT CACTAGG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	72	0.0139	106	c.266 others(123): Show c.266-4688_266-4687insCCTAGTGAGGGCCCCCTCTCGGCTCCTT CTCACTGTGGCCTCCTCCCCAGCTCTCTAGTGAGGGCCGCCTCTCGGCTC CTTCTCACTGTGGCCTCCTCCCCAGCTC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17			chr14	TogoVar
BRSK2_chr11_1384934_1467689	1393892	T T	TCCTGGAG others(99): Show TCCTGGAGATGGGCCCCTGGAGATGGGCCATGGAGATGGGTCCTGGAGAT GGGTCCTGGAGATGGGTCCTGGAGATGGGTCCTGGAGATGGGCCATGGAG ATGGGTC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02486.hp2 HG02818.hp1 others(1): Show HG01192.hp1 HG02486.hp2 HG02818.hp1 HG02976.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0014 a0001c0001t0045 others(1): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0045 a0002c0002t0002	a0001c0001t0001g0009 a0001c0001t0014g0039 a0001c0001t0045g0040 others(1): Show a0001c0001t0001g0009 a0001c0001t0014g0039 a0001c0001t0045g0040 a0002c0002t0002g0035	4	360	0.0111	106	c.91+ others(121): Show c.91+3596_91+3701dupTCCTGGAGATGGGCCATGGAGATGGGTCCC TGGAGATGGGCCCCTGGAGATGGGCCATGGAGATGGGTCCTGGAGATGGG TCCTGGAGATGGGTCCTGGAGATGGG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1393921	A A	ATGGAGAT others(99): Show ATGGAGATGGGTCCTGGAGATGGGTCCTGGAGATGGGTCCTGGAGATGGG CCATGGAGATGGGTCCCTGGAGATGGGCCCCTGGAGATGGGCCATGGAGA TGGGTCC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03130.hp2 HG02055.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0010 a0001c0001t0001g0011	2	360	0.0056	106	c.91+ others(121): Show c.91+3595_91+3596insCCATGGAGATGGGTCCCTGGAGATGGGCCC CTGGAGATGGGCCATGGAGATGGGTCCTGGAGATGGGTCCTGGAGATGGG TCCTGGAGATGGGTCCTGGAGATGGG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BSG_chr19_567596_588493	570749	G G	GGTGTGGG others(99): Show GGTGTGGGGGAGGGGGCGGAGGGGTGAGTGGGGGAGGGGTGGAGGGGTGG GTGGAAGGGGCGGGGGTGGGTGGGGGAGGGGGCGGAGGGGGTGGGTGGGG GGGCGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0139 a0001c0002t0001g0139	1	306	0.0033	106	c.-18 others(117): Show c.-1886_-1885insGTGTGGGGGAGGGGGCGGAGGGGTGAGTGGGGGA GGGGTGGAGGGGTGGGTGGAAGGGGCGGGGGTGGGTGGGGGAGGGGGCGG AGGGGGTGGGTGGGGGGGCGGA	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding		1846		chr19	TogoVar
BTBD9_chr6_38163451_38644929	38374303	A A	ATATATAT others(99): Show ATATATATATATATATATATATATATATACGTATATATATATATATATAT ATATACGTATATATATATATATATATATATACGTATATATATATATATAT ATATACG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	224	0.0045	106	c.115 others(127): Show c.1155-29211_1155-29210insCGTATATATATATATATATATATA CGTATATATATATATATATATATATACGTATATATATATATATATATATA TACGTATATATATATATATATATATATATATA	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	6/10			chr6	TogoVar
BTBD9_chr6_38163451_38644929	38374305	A A	ATATATAT others(99): Show ATATATATATATATATATATATATATATACGTATATATATATATATATAT ATACGTATATATATATATATATATATATATACGTATATATATATATATAT ATATACG	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0111 a0001c0001t0111	a0001c0001t0111g0037 a0001c0001t0111g0037	1	224	0.0045	106	c.115 others(127): Show c.1155-29213_1155-29212insCGTATATATATATATATATATATA CGTATATATATATATATATATATATATACGTATATATATATATATATATA TACGTATATATATATATATATATATATATATA	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	6/10			chr6	TogoVar
BTBD9_chr6_38163451_38644929	38374305	A A	ATATATAT others(99): Show ATATATATATATATATATATATATATATGTATATATATATATATATATAT ATACGTATATATATATATATATATATATATACGTATATATATATATATAT ATATACG	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0090 a0001c0001t0090	a0001c0001t0090g0036 a0001c0001t0090g0036	1	224	0.0045	106	c.115 others(127): Show c.1155-29213_1155-29212insCGTATATATATATATATATATATA CGTATATATATATATATATATATATATACGTATATATATATATATATATA TATACATATATATATATATATATATATATATA	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	6/10			chr6	TogoVar
BTN1A1_chr6_26495303_26515425	26514199	T T	TTATATAT others(99): Show TTATATATATATACACACACATATATAATATATGTGCACATATATATATT ATATATATATATTATATATATATAATATATATATATATATATATATATAT ATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	414	0.0024	106	c.50 others(117): Show c.5025_*5026insTATATATATATACACACACATATATAATATATGT GCACATATATATATTATATATATATATTATATATATATAATATATATATA TATATATATATATATATATATA	BTN1A1	ENSG00000124557.14	transcript	ENST00000684113.1	protein_coding		3775		chr6	TogoVar
BTN1A1_chr6_26495303_26515425	26514199	T T	TTATATAT others(99): Show TTATATATATATACACACACATATATAATATATGTGCACATATATATATT ATATATATATATTATATATATATTATATATATATATATATATAATATATA TATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01884.hp1 HG03471.hp2 others(3): Show HG01243.hp2 HG01884.hp1 HG03471.hp2 HG03540.hp1 NA18906.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0056 others(1): Show a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0056 a0001c0001t0008g0008	6	414	0.0145	106	c.50 others(117): Show c.5025_*5026insTATATATATATACACACACATATATAATATATGT GCACATATATATATTATATATATATATTATATATATATTATATATATATA TATATATAATATATATATTATA	BTN1A1	ENSG00000124557.14	transcript	ENST00000684113.1	protein_coding		3775		chr6	TogoVar
BTN1A1_chr6_26495303_26515425	26514199	T T	TTATATAT others(99): Show TTATATATATATACACACACATATATAATATATGTGCACATATATATATT ATATATATTATATATATATATTATATATATATTATATATATATATATATA TTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0024 a0001c0001t0003g0024	1	414	0.0024	106	c.50 others(117): Show c.5025_*5026insTATATATATATACACACACATATATAATATATGT GCACATATATATATTATATATATTATATATATATATTATATATATATTAT ATATATATATATATATTATATA	BTN1A1	ENSG00000124557.14	transcript	ENST00000684113.1	protein_coding		3775		chr6	TogoVar
C11orf65_chr11_108377755_108472529	108408674	T T	TGAAATAA others(99): Show TGAAATAAAATAAAATAAAATAACATAAAATAAAATAAAATAACATAACA TAACATAACATAACATAACATAACATAACATAACATAACATAAAATAACA TAAAATA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	330	0.0030	106	c.175 others(123): Show c.175-1526_175-1525insTATTTTATGTTATTTTATGTTATGTTAT GTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATTTTATTTTAT TTTATGTTATTTTATTTTATTTTATTTC	C11orf65	ENSG00000166323.13	transcript	ENST00000393084.6	protein_coding	3/8			chr11	TogoVar
C1orf87_chr1_59985394_60078770	60065003	T T	TAAATATA others(99): Show TAAATATATATATTTAATATATATAAAATATATATTAAATATATATATTT AATATATATAAAATATATATTAAATATATATTTAATATATATATTTAATA ATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	382	0.0026	106	c.107 others(123): Show c.107+7533_107+7534insTATATATTATTAAATATATATATTAAAT ATATATTTAATATATATTTTATATATATTAAATATATATATTTAATATAT ATTTTATATATATTAAATATATATATTT	C1orf87	ENSG00000162598.13	transcript	ENST00000371201.3	protein_coding	2/11			chr1	TogoVar
CACNA1C_chr12_2047987_2702950	2106704	G G	GGAGGGTT others(99): Show GGAGGGTTTCCACCTCAGCTGGGCATCCTGAAGCCACTGGGCGCCCACCC CGGGGAGGGTTTCCACCTCAGCTGGGCATCCTGAAGCCACTGGGTGCTCA CCCTGGA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0027 a0001c0021t0027	a0001c0021t0027g0087 a0001c0021t0027g0087	1	104	0.0096	106	c.50- others(121): Show c.50-8497_50-8496insATCCTGAAGCCACTGGGCGCCCACCCCGGG GAGGGTTTCCACCTCAGCTGGGCATCCTGAAGCCACTGGGTGCTCACCCT GGAGAGGGTTTCCACCTCAGCTGGGC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar

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