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
ZFP42_chr4_187990771_188010046	187992046	G G	GGGGAGAG others(279): Show GGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGACCGTGGGGAGAGGG AGAGGGAGACCGTGGGGAGAGGGAGACCGTGGGGAGAGGGAGACCGTGGG GAGAGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGACCGTGGGGAGA GGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGTGGGGAGAGGGAGA GGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGACCGTGGGGA GAGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG03704.hp2 NA19062.hp2 HG00741.hp2 HG03704.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0047 a0001c0001t0003g0007 a0001c0001t0003g0026 a0001c0001t0002g0047 a0001c0001t0003g0007 a0001c0001t0003g0026	3	127	0.0236	286	c.-41 others(297): Show c.-4133_-4132insGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAG ACCGTGGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGACCGTGGGGA GAGGGAGACCGTGGGGAGAGGGAGAGGGAGAGGGAGACCGTGGGGAGAGG GAGACCGTGGGGAGAGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGA GTGGGGAGAGGGAGAGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGA GGGAGACCGTGGGGAGAGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGA GA	ZFP42	ENSG00000179059.10	transcript	ENST00000326866.5	protein_coding		3724		chr4	TogoVar
ZNF365_chr10_62369369_62407450	62370986	T T	TCACATAT others(279): Show TCACATATGATATATATCATATATATCACATGTGATATATATCATATATA TATCACATGTGATATATAGCATATATATCACATGTGATATATAGCATATA TATCATATGTGATATATAGCATATATATCATATATCATATATATCATATA TATCATATATCATATATATCATATATCATATATCATATATATCATATATC ATATATATCATATGTGATATATATGATATATATGATATATATCATATATG ATATATATGATATATCACATATATATGATATATATCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG03491.hp2 HG01361.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	2	333	0.0060	286	c.-34 others(297): Show c.-3486_-3485insCACATATGATATATATCATATATATCACATGTGA TATATATCATATATATATCACATGTGATATATAGCATATATATCACATGT GATATATAGCATATATATCATATGTGATATATAGCATATATATCATATAT CATATATATCATATATATCATATATCATATATATCATATATCATATATCA TATATATCATATATCATATATATCATATGTGATATATATGATATATATGA TATATATCATATATGATATATATGATATATCACATATATATGATATATAT CA	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3382		chr10	TogoVar
ZNF512B_chr20_63951704_63974930	63970942	C C	CCTTCCTT others(279): Show CCTTCCTTTTCTCTTTCCTTCCTTCTCTTCTCTTCCCTCCCTCCCTTCCT CCCTTCCTTCTCTTCCTTCCCTTACCTTCCTCCCTCCCTTCTTCCTTCCT TTCCTTCCTTCTTCCTTCCTTTTCTCTTTCCTTCCTTCTCTTCTCTTCCC TCCCTCCCTTCCTCCCTTCCTTCTCTTCCTTCCCTTCCCTTCCTCCCTCC CTTCTTCCTTCCTTTCCTTCCTTCTTCCTTCCTTTTCTCTTTCCTTCCTT CTCTTCTCTTCCCTCCCTCCCTACCTCCCTTCCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	78	0.0128	286	c.-11 others(297): Show c.-1132_-1131insAGAAGGAAGGGAGGTAGGGAGGGAGGGAAGAGAA GAGAAGGAAGGAAAGAGAAAAGGAAGGAAGAAGGAAGGAAAGGAAGGAAG AAGGGAGGGAGGAAGGGAAGGGAAGGAAGAGAAGGAAGGGAGGAAGGGAG GGAGGGAAGAGAAGAGAAGGAAGGAAAGAGAAAAGGAAGGAAGAAGGAAG GAAAGGAAGGAAGAAGGGAGGGAGGAAGGTAAGGGAAGGAAGAGAAGGAA GGGAGGAAGGGAGGGAGGGAAGAGAAGAGAAGGAAGGAAAGAGAAAAGGA AG	ZNF512B	ENSG00000196700.9	transcript	ENST00000369888.6	protein_coding		1013		chr20	TogoVar
ZNF512B_chr20_63951704_63974930	63970942	C C	CCTTCCTT others(279): Show CCTTCCTTTTCTCTTTCCTTCCTTCTCTTCTCTTCCCTCCCTCCCTTCCT CCCTTCCTTCTCTTCCTTCCCTTCCCTCCCTCCCTTCTTCCTTCCTTTCC TTCCTTCTTCCTTCCTTCCTTTTCTCTTTCCTTCCTTCTCTTCTCTTCCC TCCCTCCCTTCCTCCCTTCCTTCTCTTCCTTCCCTTACCTTCCTCCCTCC CTTCTTCCTTCCTTTCCTTCCTTCTTCCTTCCTTTTCTCTTTCCTTCCTT CTCTTCTCTTCCCTCCCTCCCTACCTCCCTTCCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	78	0.0128	286	c.-11 others(297): Show c.-1132_-1131insAGAAGGAAGGGAGGTAGGGAGGGAGGGAAGAGAA GAGAAGGAAGGAAAGAGAAAAGGAAGGAAGAAGGAAGGAAAGGAAGGAAG AAGGGAGGGAGGAAGGTAAGGGAAGGAAGAGAAGGAAGGGAGGAAGGGAG GGAGGGAAGAGAAGAGAAGGAAGGAAAGAGAAAAGGAAGGAAGGAAGAAG GAAGGAAAGGAAGGAAGAAGGGAGGGAGGGAAGGGAAGGAAGAGAAGGAA GGGAGGAAGGGAGGGAGGGAAGAGAAGAGAAGGAAGGAAAGAGAAAAGGA AG	ZNF512B	ENSG00000196700.9	transcript	ENST00000369888.6	protein_coding		1013		chr20	TogoVar
ZNF512B_chr20_63951704_63974930	63970942	C C	CCTTCCTT others(279): Show CCTTCCTTTTCTCTTTCCTTCCTTCTCTTCTCTTCCCTCCCTCCCTTCCT CCCTTCCTTCTCTTCCTTCCCTTCCCTTCCTCCCTCCCTTCTTCCTTCCT TTCCTTCCTTCTTCCTTCCTTTTCTCTTTCCTTCCTTCTCTTCTCTTCCC TCCCTCCCTTCCTCCCTTCCTTCTCTTCCTTCCCTTCCCTTCCTCCCTCC CTTCTTCCTTCCTTTCCTTCCTTCTTCCTTCCTTTTCTCTTTCCTTCCTT CTCTTCTCTTCCCTCCCTCCCTACCTCCCTTCCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01192.hp2 HG01517.hp2 others(1): Show HG01074.hp2 HG01192.hp2 HG01517.hp2 HG02602.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0005c0012 a0001c0001 a0001c0003 a0005c0012	a0001c0001t0001 a0001c0003t0021 a0005c0012t0002 a0001c0001t0001 a0001c0003t0021 a0005c0012t0002	a0001c0001t0001g0065 a0001c0003t0021g0060 a0005c0012t0002g0107 others(1): Show a0001c0001t0001g0065 a0001c0003t0021g0060 a0005c0012t0002g0107 a0005c0012t0002g0115	4	81	0.0494	286	c.-11 others(297): Show c.-1132_-1131insAGAAGGAAGGGAGGTAGGGAGGGAGGGAAGAGAA GAGAAGGAAGGAAAGAGAAAAGGAAGGAAGAAGGAAGGAAAGGAAGGAAG AAGGGAGGGAGGAAGGGAAGGGAAGGAAGAGAAGGAAGGGAGGAAGGGAG GGAGGGAAGAGAAGAGAAGGAAGGAAAGAGAAAAGGAAGGAAGAAGGAAG GAAAGGAAGGAAGAAGGGAGGGAGGAAGGGAAGGGAAGGAAGAGAAGGAA GGGAGGAAGGGAGGGAGGGAAGAGAAGAGAAGGAAGGAAAGAGAAAAGGA AG	ZNF512B	ENSG00000196700.9	transcript	ENST00000369888.6	protein_coding		1013		chr20	TogoVar
ZNF787_chr19_56082366_56126295	56105981	T T	TTCCCCCC others(279): Show TTCCCCCCTCCGCGCCCACGGCAGTCACCGCGCATTCCGCATTCCCCCCT CCGCGCCCACGGCAGTCACCGCGCATTCCGCCCTCCGCGCCCACGGCAGT CACCGCGCATTCCCCCCTCCGCGCCCACGGCAGTCACCGCGCATTCCGCA TTCCCCCGGCCGCGCCCACGGCAGTCACCGCGCATTCCGCCCTCCGCGCC CACGGCAGTCACCGCGCATTCCCCCCTCCGCGCCCACGGCAGTCACCGCG CATTCCCCCCTCCGCGCCCACGGCAGTCACCGCGCAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0004 a0004	a0004c0019 a0004c0019	a0004c0019t0075 a0004c0019t0075	a0004c0019t0075g0087 a0004c0019t0075g0087	1	386	0.0026	286	c.-10 others(303): Show c.-10-2755_-10-2754insTTGCGCGGTGACTGCCGTGGGCGCGGAG GGGGGAATGCGCGGTGACTGCCGTGGGCGCGGAGGGGGGAATGCGCGGTG ACTGCCGTGGGCGCGGAGGGCGGAATGCGCGGTGACTGCCGTGGGCGCGG CCGGGGGAATGCGGAATGCGCGGTGACTGCCGTGGGCGCGGAGGGGGGAA TGCGCGGTGACTGCCGTGGGCGCGGAGGGCGGAATGCGCGGTGACTGCCG TGGGCGCGGAGGGGGGAATGCGGAATGCGCGGTGACTGCCGTGGGCGCGG AGGGGGGA	ZNF787	ENSG00000142409.6	transcript	ENST00000610935.2	protein_coding	1/2			chr19	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500842	A A	AGGGAGGA others(280): Show AGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGAG GGGAGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGGGAGA GGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAGG GGAGGGGGAGGAGGGAAGGGGAGGGGGAGGAGGGGGGAGGGGGGGAGGAG GGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACG GGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02486.hp1 HG02647.hp2 others(6): Show HG02257.hp2 HG02486.hp1 HG02647.hp2 HG02965.hp2 HG03041.hp2 HG03486.hp1 NA18522.hp2 NA18906.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0018	a0001c0001t0001 a0001c0003t0038 a0001c0004t0005 others(1): Show a0001c0001t0001 a0001c0003t0038 a0001c0004t0005 a0001c0018t0005	a0001c0001t0001g0080 a0001c0003t0038g0209 a0001c0004t0005g0016 others(2): Show a0001c0001t0001g0080 a0001c0003t0038g0209 a0001c0004t0005g0016 a0001c0004t0005g0033 a0001c0018t0005g0052	9	325	0.0277	287	c.51 others(298): Show c.5172_*5173insCCCTCCCCTCCTCCCCCCTCCCCTCCTCCCTCCT CCCCCGTCCCCTCCTCCCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCT TCCCCTCCTCCCCCCCTCCCCCCTCCTCCCCCTCCCCTTCCCTCCTCCCC CTCCCCTCCTCCTTCCCTCCTCCCCCTCCCCTCCTCCCCTCTCCCCCTCC CCCCTCTCCCCCCTCCCCTCCTCCCTCCTCCCCCCTCCCCTCCTCCCCCC TCCCCTCCCCCTCCCCTCCTCCCCCCTCCCCTCCTCCCTCTTCCCCTCCT CCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4179		chr19	TogoVar
ADARB2_chr10_1172313_1742525	1236797	C C	CTCCCTCC others(280): Show CTCCCTCCCGGTGTTTACTCCCCCCTCCCTCCCGGTGTTCACTCCCCTCT CCCTCCCGGTGTTCACTCCCCTCTCCCTCCCGGTGTTCACTCCCCTCTCC CTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTCACTCCCCTCTCCCT CCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCC CGGTGTTCACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCG GTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0047 a0002c0002t0008g0047	1	71	0.0141	287	c.136 others(306): Show c.1362-2953_1362-2952insAGGGGAGTAAACACCGGGAGGCAGGG GGGAGTAAACACCGGGAGGGAGAGGGGAGTAAACACCGGGAGGGAGAGGG GAGTGAACACCGGGAGGGAGAGGGGAGTAAACACCGGGAGGGAGAGGGGA GTAAACACCGGGAGGGAGAGGGGAGTGAACACCGGGAGGGAGAGGGGAGT AAACACCGGGAGGGAGAGGGGAGTGAACACCGGGAGGGAGAGGGGAGTGA ACACCGGGAGGGAGAGGGGAGTGAACACCGGGAGGGAGGGGGGAGTAAAC ACCGGGAGGGA	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
AGMO_chr7_15195317_15567015	15530285	T T	TATTCTAT others(280): Show TATTCTATATACGTATTTCCATATATTCTATATACGTATTTCCATATATT CTATATACGTATTTCCATATAGATATTCTATATACGTATTTCCATATAGA TATTCTATATACGTATTTCCATATAGATATTCTATACACGTATTTCCATA TAGATATTCTATACACGTATTTCCATATAGATATTCTATATACGTATTTC CATATAGATATTCTATATACGTATTTCCATATAGATATTCTATATACGTA TTTCCATATAGATATTCTATATACGTATTTCCATATAG	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	61	0.0164	287	c.409 others(306): Show c.409+14486_409+14487insCTATATGGAAATACGTATATAGAATA TCTATATGGAAATACGTATATAGAATATCTATATGGAAATACGTATATAG AATATCTATATGGAAATACGTATATAGAATATCTATATGGAAATACGTGT ATAGAATATCTATATGGAAATACGTGTATAGAATATCTATATGGAAATAC GTATATAGAATATCTATATGGAAATACGTATATAGAATATCTATATGGAA ATACGTATATAGAATATATGGAAATACGTATATAGAATATATGGAAATAC GTATATAGAAT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15530484	C C	CCATATAT others(280): Show CCATATATATATTCTATATACGTATTTCCATATATATATTCTATATACGT ATTTCCATATATATATTCTATATACGTATTTCCATATATATATTCTATAT ACGTATTTCCATATATATTCTATATACGTATTTCCATATATATTCTATAT ACGTATTTCCATATATATTCTATATACGTATTTCCATATATATTCTATAT ACGTATTTCTATATATATATTCTATATACGTATTTCTATATATATTCTAT ATACGTATTTCTATATATATTCTATATACGTATTTCTA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03225.hp2 HG03486.hp1 others(2): Show HG02717.hp1 HG03225.hp2 HG03486.hp1 HG03516.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0001 a0001c0001t0005 a0002c0002t0001	a0001c0001t0005g0199 a0001c0001t0005g0200 a0001c0001t0005g0201 others(2): Show a0001c0001t0005g0199 a0001c0001t0005g0200 a0001c0001t0005g0201 a0002c0002t0001g0058 a0002c0002t0001g0059	5	212	0.0236	287	c.409 others(306): Show c.409+14287_409+14288insTAGAAATACGTATATAGAATATATAT AGAAATACGTATATAGAATATATATAGAAATACGTATATAGAATATATAT ATAGAAATACGTATATAGAATATATATGGAAATACGTATATAGAATATAT ATGGAAATACGTATATAGAATATATATGGAAATACGTATATAGAATATAT ATGGAAATACGTATATAGAATATATATATGGAAATACGTATATAGAATAT ATATATGGAAATACGTATATAGAATATATATATGGAAATACGTATATAGA ATATATATATG	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGPAT2_chr9_136668143_136692457	136675317	C C	CAGGGGGC others(280): Show CAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCC AGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAG GCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGAC TGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAG GGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGG GGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	228	0.0044	287	c.589 others(302): Show c.589-511_589-510insCCCTCCCTGCTCCCAGTCCCCAGCCTACCT GCTGGCCCCCTCCCTCCCTGCTGCCAGTCCCCAGCCTACCTGCTGGCCCC CTCCCTCCCTGCTGCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCC TGCTGCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTCCCAG TCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTGCCAGTCCCCAGCC TACCTGCTGGCCCCCTCCCTCCCTGCTGCCAGTCCCCAGCCTACCTGCTG GCCCCCT	AGPAT2	ENSG00000169692.14	transcript	ENST00000371696.7	protein_coding	4/5			chr9	TogoVar
AGPAT2_chr9_136668143_136692457	136675317	C C	CAGGGGGC others(280): Show CAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCC AGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAG GCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGAC TGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAG GGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGG GGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03453.hp1 HG03130.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0103 a0001c0001t0002g0104	2	229	0.0087	287	c.589 others(302): Show c.589-511_589-510insCCCTCCCTGCTGCCAGTCCCCAGCCTACCT GCTGGCCCCCTCCCTCCCTGCTGCCAGTCCCCAGCCTACCTGCTGGCCCC CTCCCTCCCTGCTCCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCC TGCTGCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTGCCAG TCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTGCCAGTCCCCAGCC TACCTGCTGGCCCCCTCCCTCCCTGCTCCCAGTCCCCAGCCTACCTGCTG GCCCCCT	AGPAT2	ENSG00000169692.14	transcript	ENST00000371696.7	protein_coding	4/5			chr9	TogoVar
AGPAT2_chr9_136668143_136692457	136675347	C C	CAGCAGGG others(280): Show CAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGA GGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGG CCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGT AGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGG ACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGC AGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGG	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA18522.hp1 HG02523.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0205 a0001c0001t0002g0004 a0001c0001t0002g0205	2	299	0.0067	287	c.589 others(302): Show c.589-541_589-540insCCCAGTCCCCAGCCTACCTGCTGGCCCCCT CCCTCCCTGCTGCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTG CTCCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTGCCAGTC CCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTGCCAGTCCCCAGCCTA CCTGCTGGCCCCCTCCCTCCCTGCTCCCAGTCCCCAGCCTACCTGCTGGC CCCCTCCCTCCCTGCTGCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCT CCCTGCT	AGPAT2	ENSG00000169692.14	transcript	ENST00000371696.7	protein_coding	4/5			chr9	TogoVar
AGPAT2_chr9_136668143_136692457	136675388	G G	GAGCAGGG others(280): Show GAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGA GGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGG CCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGT AGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGG ACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGC AGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	215	0.0047	287	c.589 others(302): Show c.589-582_589-581insGCCAGTCCCCAGCCTACCTGCTGGCCCCCT CCCTCCCTGCTCCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTG CTGCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTGCCAGTC CCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTCCCAGTCCCCAGCCTA CCTGCTGGCCCCCTCCCTCCCTGCTGCCAGTCCCCAGCCTACCTGCTGGC CCCCTCCCTCCCTGCTGCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCT CCCTGCT	AGPAT2	ENSG00000169692.14	transcript	ENST00000371696.7	protein_coding	4/5			chr9	TogoVar
AGPAT2_chr9_136668143_136692457	136675388	G G	GAGCAGGG others(280): Show GAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGA GGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGG CCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGT AGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGG ACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGC AGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	215	0.0047	287	c.589 others(302): Show c.589-582_589-581insGCCAGTCCCCAGCCTACCTGCTGGCCCCCT CCCTCCCTGCTCCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTG CTGCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTGCCAGTC CCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTGCCAGTCCCCAGCCTA CCTGCTGGCCCCCTCCCTCCCTGCTCCCAGTCCCCAGCCTACCTGCTGGC CCCCTCCCTCCCTGCTGCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCT CCCTGCT	AGPAT2	ENSG00000169692.14	transcript	ENST00000371696.7	protein_coding	4/5			chr9	TogoVar
AGPAT2_chr9_136668143_136692457	136675429	C C	CAGCAGGG others(280): Show CAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGA GGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGG CCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGT AGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGG ACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGC AGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	156	0.0064	287	c.589 others(302): Show c.589-623_589-622insCCCAGTCCCCAGCCTACCTGCTGGCCCCCT CCCTCCCTGCTGCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTG CTCCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTGCCAGTC CCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTGCCAGTCCCCAGCCTA CCTGCTGGCCCCCTCCCTCCCTGCTGCCAGTCCCCAGCCTACCTGCTGGC CCCCTCCCTCCCTGCTCCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCT CCCTGCT	AGPAT2	ENSG00000169692.14	transcript	ENST00000371696.7	protein_coding	4/5			chr9	TogoVar
AGPAT2_chr9_136668143_136692457	136675429	C C	CAGCAGGG others(280): Show CAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGA GGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGG CCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGT AGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGG ACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGC AGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	156	0.0064	287	c.589 others(302): Show c.589-623_589-622insCCCAGTCCCCAGCCTACCTGCTGGCCCCCT CCCTCCCTGCTGCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTG CTCCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTCCCAGTC CCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTGCCAGTCCCCAGCCTA CCTGCTGGCCCCCTCCCTCCCTGCTGCCAGTCCCCAGCCTACCTGCTGGC CCCCTCCCTCCCTGCTCCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCT CCCTGCT	AGPAT2	ENSG00000169692.14	transcript	ENST00000371696.7	protein_coding	4/5			chr9	TogoVar
ANK3_chr10_60021298_60394875	60365086	T T	TAAAAAAT others(280): Show TAAAAAATAGATGCTCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCAT GAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTC TACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTC CCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCG GAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTG GGCAACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp1 HG00609.hp1 others(39): Show HG00099.hp2 HG00544.hp1 HG00609.hp1 HG00738.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01261.hp2 HG01361.hp2 HG01515.hp2 HG01943.hp2 HG02071.hp1 HG02080.hp2 HG02083.hp2 HG02165.hp1 HG02258.hp2 HG02602.hp2 HG02615.hp2 HG02683.hp1 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG03486.hp2 HG03540.hp2 HG04115.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18939.hp2 NA18942.hp2 NA18959.hp1 NA18963.hp2 NA18964.hp2 NA18969.hp1 NA18995.hp1 NA19007.hp1 NA19058.hp2 NA19070.hp1 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0008 a0009 a0010 a0015 a0024 a0025	a0001c0001 a0001c0002 a0001c0008 others(29): Show a0001c0001 a0001c0002 a0001c0008 a0001c0023 a0001c0036 a0001c0037 a0001c0038 a0001c0047 a0001c0048 a0001c0052 a0001c0055 a0001c0067 a0001c0068 a0001c0073 a0002c0004 a0002c0012 a0002c0013 a0002c0022 a0002c0066 a0002c0069 a0002c0079 a0003c0080 a0004c0076 a0005c0003 a0005c0082 a0008c0072 a0009c0021 a0010c0024 a0010c0058 a0015c0065 a0024c0040 a0025c0063	a0001c0001t0001 a0001c0001t0003 a0001c0002t0004 others(34): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0004 a0001c0002t0040 a0001c0008t0002 a0001c0008t0013 a0001c0023t0060 a0001c0036t0001 a0001c0037t0002 a0001c0038t0005 a0001c0047t0045 a0001c0048t0001 a0001c0052t0003 a0001c0055t0015 a0001c0067t0005 a0001c0068t0002 a0001c0073t0058 a0002c0004t0002 a0002c0004t0003 a0002c0004t0046 a0002c0012t0020 a0002c0013t0002 a0002c0022t0013 a0002c0066t0018 a0002c0069t0022 a0002c0079t0002 a0003c0080t0038 a0004c0076t0047 a0005c0003t0002 a0005c0082t0027 a0008c0072t0001 a0009c0021t0001 a0010c0024t0025 a0010c0058t0055 a0015c0065t0048 a0024c0040t0056 a0025c0063t0022	a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0119 others(39): Show a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0133 a0001c0001t0003g0143 a0001c0002t0004g0109 a0001c0002t0040g0147 a0001c0008t0002g0098 a0001c0008t0013g0122 a0001c0023t0060g0192 a0001c0036t0001g0129 a0001c0037t0002g0128 a0001c0038t0005g0033 a0001c0047t0045g0131 a0001c0048t0001g0107 a0001c0052t0003g0110 a0001c0055t0015g0130 a0001c0067t0005g0127 a0001c0068t0002g0138 a0001c0073t0058g0124 a0002c0004t0002g0032 a0002c0004t0003g0144 a0002c0004t0046g0126 a0002c0012t0020g0100 a0002c0013t0002g0104 a0002c0022t0013g0141 a0002c0066t0018g0116 a0002c0069t0022g0117 a0002c0079t0002g0111 a0003c0080t0038g0020 a0004c0076t0047g0132 a0005c0003t0002g0118 a0005c0082t0027g0097 a0008c0072t0001g0121 a0009c0021t0001g0099 a0010c0024t0025g0114 a0010c0058t0055g0120 a0015c0065t0048g0136 a0024c0040t0056g0137 a0025c0063t0022g0101	42	171	0.2456	287	c.114 others(306): Show c.114+24338_114+24339insTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTTGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCT CACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGAGC ATCTATTTTTT	ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	1/43			chr10	TogoVar
ANK3_chr10_60021298_60394875	60365086	T T	TAAAAAAT others(280): Show TAAAAAATAGATGCTCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCAT GAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTC TACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCTCCTGTAGTC CCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCG GAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTG GGCAACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0115 a0001c0011t0002g0115	1	130	0.0077	287	c.114 others(306): Show c.114+24338_114+24339insTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTTGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCT CACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGAGCCCGCCACCGCGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGAGC ATCTATTTTTT	ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	1/43			chr10	TogoVar
ANKRD62_chr18_12088843_12134764	12094362	G G	GTGGGGTG others(280): Show GTGGGGTGGGGGACTGTGGTGGGGAGTGGCTGGGGGGCGTTGGATGTGAT GGGGGACTGTGGTGGGGGTAGAGTTGGGTGGGGGACTGTGGTAGGAAGTG GAGTTGGGTGGGGGTTGGAAGGGGTGGAGGACTGTGGTGGGGGGTGGGAT GGGTTGGGGGACTGGTGGGGAGTGGCTGGGGGGCGTTGGATGTGATGGGG GACTGTGGTGGGGGTAGAGTTGGGTGAGGGACTGTGGTGGGGAGTGGAGT GAGGGTGGGTTGGGGTGGAGGACTGGTGGGGGGTGGGA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	389	0.0026	287	c.218 others(302): Show c.218+163_218+449dupGCGTTGGATGTGATGGGGGACTGTGGTGGG GGTAGAGTTGGGTGGGGGACTGTGGTAGGAAGTGGAGTTGGGTGGGGGTT GGAAGGGGTGGAGGACTGTGGTGGGGGGTGGGATGGGTTGGGGGACTGGT GGGGAGTGGCTGGGGGGCGTTGGATGTGATGGGGGACTGTGGTGGGGGTA GAGTTGGGTGAGGGACTGTGGTGGGGAGTGGAGTGAGGGTGGGTTGGGGT GGAGGACTGGTGGGGGGTGGGATGGGGTGGGGGACTGTGGTGGGGAGTGG CTGGGGG	ANKRD62	ENSG00000181626.12	transcript	ENST00000587848.3	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr18	TogoVar
ANO6_chr12_45211095_45437349	45376185	T T	TAAAAAGT others(280): Show TAAAAAGTCAGGAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAAGG TGAAACCCCGTCTCTACTAAAAATACAAAAAGTTAGCCGGGCGTAGTGGC GGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTC CAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02258.hp1 HG03540.hp1 others(2): Show HG02257.hp2 HG02258.hp1 HG03540.hp1 NA19043.hp1 NA21309.hp2	a0004 a0005 a0004 a0005	a0004c0005 a0005c0008 a0004c0005 a0005c0008	a0004c0005t0010 a0004c0005t0019 a0005c0008t0014 a0004c0005t0010 a0004c0005t0019 a0005c0008t0014	a0004c0005t0010g0061 a0004c0005t0010g0180 a0004c0005t0019g0018 others(2): Show a0004c0005t0010g0061 a0004c0005t0010g0180 a0004c0005t0019g0018 a0005c0008t0014g0143 a0005c0008t0014g0147	5	226	0.0221	287	c.110 others(306): Show c.1105-1856_1105-1855insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAGTTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAGTCAGGA	ANO6	ENSG00000177119.17	transcript	ENST00000320560.13	protein_coding	9/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
ARHGAP40_chr20_38596809_38655653	38653257	G G	GTGTTGGT others(280): Show GTGTTGGTGGTGGTGATAATGATGGTAGTGGTGGTGGTGATGATGGTGAT GATGATTATGATGGTGTGTTGGTGGTGCTGGTGATAATGGTGGTGGTGGT GGTGGTGATGGAAATGATGATGTTAATTATGGTGTTGATGATGGTAATGA TAATGATTGTGATGGTGGTGTTGGTGGTGCTGGTGATGATAATGGTGGTG GTGGTGGTGATGGTGATGATGATTATGATGGTGGTGGTGGTGGTGGTGGT GCTGGTGATAGTGGTGGTGGTGGTGCTGGTGATGATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp2 NA19086.hp1 NA18969.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0216 a0001c0001t0005g0250 a0001c0001t0005g0216 a0001c0001t0005g0250	2	315	0.0063	287	c.34 others(298): Show c.3409_*3410insTGTTGGTGGTGGTGATAATGATGGTAGTGGTGGT GGTGATGATGGTGATGATGATTATGATGGTGTGTTGGTGGTGCTGGTGAT AATGGTGGTGGTGGTGGTGGTGATGGAAATGATGATGTTAATTATGGTGT TGATGATGGTAATGATAATGATTGTGATGGTGGTGTTGGTGGTGCTGGTG ATGATAATGGTGGTGGTGGTGGTGATGGTGATGATGATTATGATGGTGGT GGTGGTGGTGGTGGTGCTGGTGATAGTGGTGGTGGTGGTGCTGGTGATGA TAA	ARHGAP40	ENSG00000124143.11	transcript	ENST00000373345.9	protein_coding		2605		chr20	TogoVar
ARHGEF10_chr8_1818926_1963641	1839832	G G	GACTGTCT others(280): Show GACTGTCTGGTGTGGGGACTGTCTGGTGTGGGGACTGTATGGTGTGGGGA CTGTCTAGTGTGGGGACTGTCCGCTGTGGAAGCTGTCTGGTGTGGAAGCT GTCTGGTGTGGGCACTGTCTGGTGTGGGGACTGTCCGGTGTGGGGACTGT CCGGTGTGGAAGCTGTCTGGTGTGGGGACTGTCTGGTGTGGAAGCTGTCT GGTGTGGGGACTGTCTGGTGTGGAAGCTGTCTGGTGTGGGGACTGTCCGG TGTGGAAGCTGTCTGGTTTGGAAGCTGTCTGGTGTGGA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02717.hp1 HG02818.hp2 others(4): Show HG01255.hp1 HG02717.hp1 HG02818.hp2 HG02895.hp2 HG02922.hp2 HG03139.hp1 HG03540.hp2	a0001 a0011 a0012 a0001 a0011 a0012	a0001c0002 a0001c0003 a0001c0012 others(3): Show a0001c0002 a0001c0003 a0001c0012 a0001c0100 a0011c0029 a0012c0130	a0001c0002t0026 a0001c0003t0026 a0001c0012t0063 others(4): Show a0001c0002t0026 a0001c0003t0026 a0001c0012t0063 a0001c0100t0062 a0011c0029t0007 a0011c0029t0035 a0012c0130t0061	a0001c0002t0026g0267 a0001c0003t0026g0268 a0001c0012t0063g0266 others(4): Show a0001c0002t0026g0267 a0001c0003t0026g0268 a0001c0012t0063g0266 a0001c0100t0062g0265 a0011c0029t0007g0276 a0011c0029t0035g0275 a0012c0130t0061g0342	7	360	0.0194	287	c.-47 others(304): Show c.-47-3507_-47-3506insGGACTGTCTGGTGTGGGGACTGTATGGT GTGGGGACTGTCTAGTGTGGGGACTGTCCGCTGTGGAAGCTGTCTGGTGT GGAAGCTGTCTGGTGTGGGCACTGTCTGGTGTGGGGACTGTCCGGTGTGG GGACTGTCCGGTGTGGAAGCTGTCTGGTGTGGGGACTGTCTGGTGTGGAA GCTGTCTGGTGTGGGGACTGTCTGGTGTGGAAGCTGTCTGGTGTGGGGAC TGTCCGGTGTGGAAGCTGTCTGGTTTGGAAGCTGTCTGGTGTGGAACTGT CTGGTGTGG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARL13A_chrX_100964708_100995831	100972874	A A	AGTAGGGG others(280): Show AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGCACGGCT GGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCGCGGCTG GCCAGGCGGGGGGCTGACCCCTCCACCTCCCTCCCGGATGGGGCGGCTGG CCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCG	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	97	0.0103	287	c.-14 others(302): Show c.-14-801_-14-800insTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCC CTCCCGGACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGCGCGGCTGGCCAGGCGGGGGGCTGACCCCTCCACCTCCCT CCCGGATGGGGCGGCTGGCCGGGGCGGGGGGCTGACCCCCCCACCTCCCT CCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCACCTCC CTCCCGG	ARL13A	ENSG00000174225.15	transcript	ENST00000450049.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATG5_chr6_106179476_106330760	106251648	G G	GGAGGGAG others(280): Show GGAGGGAGGGAGGGAGGGAGGGAGGCGGAGAGAGGGAGAAGGGAGAGAGG GAGGGAGGGGGAGGGGGAGAGAGGGAGGGAGGGGGAGAGGGAGAGAGGGA GGGGGAGAGGGAGGGAGGGGGAGAGGGAGGGGGGAGAGAGGGAGGGAGGG TAAGAGAGGGAGAGAGGGAGGGGGAGAGAGGGAGGGAGGGAGAGAGAGGG AGAGAGGGAGGGGGGAGAAAGGAGGGGGAGGGGGAGAGAGGGAGGGTGGG GGAGGGAGGGAGGGGGGAGGGAGGGAGGGAGGGGGAGA	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	5	0.2000	287	c.479 others(304): Show c.479-3405_479-3404insTCTCCCCCTCCCTCCCTCCCTCCCCCCT CCCTCCCTCCCCCACCCTCCCTCTCTCCCCCTCCCCCTCCTTTCTCCCCC CTCCCTCTCTCCCTCTCTCTCCCTCCCTCCCTCTCTCCCCCTCCCTCTCT CCCTCTCTTACCCTCCCTCCCTCTCTCCCCCCTCCCTCTCCCCCTCCCTC CCTCTCCCCCTCCCTCTCTCCCTCTCCCCCTCCCTCCCTCTCTCCCCCTC CCCCTCCCTCCCTCTCTCCCTTCTCCCTCTCTCCGCCTCCCTCCCTCCCT CCCTCCCTC	ATG5	ENSG00000057663.16	transcript	ENST00000369076.8	protein_coding	5/7			chr6	TogoVar
ATP11A_chr13_112685038_112892168	112804147	G G	GCCCTCGT others(280): Show GCCCTCGTTCCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCACCCCCTCT CTGCCCTCGTTCCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCT CTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTCCCTCCTTCACCTCCCTCC CCCCACCCCCTCTCTGCCCTCGTTCCCCTCCTTCCCTCCTTCACCTCCCT CCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTCCCTCC TTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCGTTC	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0200 a0002c0010t0001g0200	1	179	0.0056	287	c.163 others(302): Show c.163-805_163-804insGTTCCCCTCCTTCCCTCCTTCACCTCCCTC CCCCCACCCCCTCTCTGCCCTCGTTCCCCTCCTTCCCTCCTTCACCTCCC TCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTCCCTC CTTCACCTCCCTCCCCCCACCCCCTCTCTGCCCTCGTTCCCCTCCTTCCC TCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTT TCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCGT TCCCCTC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP9B_chr18_79064394_79383283	79309071	G G	GAGGAGTG others(280): Show GAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCC AGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGT CAGGGGTGGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAG TGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGTAGTGATCCTCCGCAGG TAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGG CTGAGGAGTGATCCTCCGCAGGTAGAAGGTCAGGGGCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00544.hp1 HG00609.hp2 others(50): Show HG00140.hp1 HG00544.hp1 HG00609.hp2 HG00673.hp2 HG00735.hp1 HG00741.hp2 HG01071.hp2 HG01081.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01358.hp2 HG01361.hp1 HG01934.hp2 HG01981.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02132.hp2 HG02135.hp1 HG02155.hp2 HG02300.hp2 HG02738.hp2 HG03492.hp1 HG03654.hp1 HG03669.hp1 HG03710.hp2 HG04115.hp2 HG04184.hp2 NA18747.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18951.hp1 NA18960.hp2 NA18970.hp2 NA18979.hp1 NA18980.hp1 NA18992.hp2 NA18998.hp1 NA19001.hp1 NA19002.hp1 NA19004.hp1 NA19010.hp2 NA19079.hp2 NA19090.hp1 NA19091.hp2 NA20129.hp2 NA20752.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0015 a0001c0025 others(2): Show a0001c0001 a0001c0015 a0001c0025 a0001c0026 a0002c0005	a0001c0001t0001 a0001c0001t0010 a0001c0015t0001 others(3): Show a0001c0001t0001 a0001c0001t0010 a0001c0015t0001 a0001c0025t0001 a0001c0026t0001 a0002c0005t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(50): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0010g0005 a0001c0001t0010g0050 a0001c0015t0001g0128 a0001c0025t0001g0074 a0001c0026t0001g0038 a0002c0005t0001g0195	53	218	0.2431	287	c.177 others(306): Show c.1773+1837_1773+1838insAGGAGTGATCCCCAGCAGGTAGAAGG TCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGA GTGATCCCCAGCAGGTAGAAGGTCAGGGGTGGAGGAGTGATCCCCAGCAG GTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGG GCTGAGTAGTGATCCTCCGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATC CCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCTCCGCAGGTAGAA GGTCAGGGGCT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29			chr18	TogoVar
ATP9B_chr18_79064394_79383283	79326337	T T	TCCTCCCC others(280): Show TCCTCCCCTCACATGGTGTTAGTGTGTCATCTCTGCACACTCCCTCCCCT CACATGGTGTTAGGGTGTCATCTCTATACCCTCCCTCCCCTCACATGGTG TTAGGGTGTCATCTCTGTACCCTCCCTCCCCTCACATGGTGTTAGGGTGT CATCCCTGCACACTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTAT ACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTGTACCCTCCCT CCCCTCACATGGTGTTAGGGTGTCATCCCTGCACACTC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02630.hp1 HG01496.hp2 HG02630.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0001 a0001c0001t0001 a0002c0005t0001	a0001c0001t0001g0019 a0002c0005t0001g0187 a0001c0001t0001g0019 a0002c0005t0001g0187	2	22	0.0909	287	c.177 others(306): Show c.1774-2783_1774-2782insTGTGTCATCTCTGCACACTCCCTCCC CTCACATGGTGTTAGGGTGTCATCTCTATACCCTCCCTCCCCTCACATGG TGTTAGGGTGTCATCTCTGTACCCTCCCTCCCCTCACATGGTGTTAGGGT GTCATCCCTGCACACTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCT ATACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTGTACCCTCC CTCCCCTCACATGGTGTTAGGGTGTCATCCCTGCACACTCCCTCCCCTCA CATGGTGTTAG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79326359	G G	GGTGTCAT others(280): Show GGTGTCATCTCTGTACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATC TCTGTACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTGTACCC TTCCTCCCCTCACATGGTGTTAGTGTGTCATCTCTGCACACTCCCTCCCC TCACATGGTGTTAGGGTGTCATCTCTATACCCTCCCTCCCCTCACATGGT GTTAGTGTGTCATCTCTGTACCCTCCCTCCCCTCACATGGTGTTAGGGTG TCATCCCTGCACACTCCTTCCCCTCACATGGTGTTAGT	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19085.hp2 NA19054.hp1 NA19085.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0150 a0001c0003t0003g0152 a0001c0003t0003g0150 a0001c0003t0003g0152	2	293	0.0068	287	c.177 others(306): Show c.1774-2692_1774-2691insTCTGTACCCTTCCTCCCCTCACATGG TGTTAGTGTGTCATCTCTGCACACTCCCTCCCCTCACATGGTGTTAGGGT GTCATCTCTATACCCTCCCTCCCCTCACATGGTGTTAGTGTGTCATCTCT GTACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCCCTGCACACTCC TTCCCCTCACATGGTGTTAGTGTGTCATCTCTGTACCCTCCCTCCCCTCA CATGGTGTTAGGGTGTCATCTCTGTACCCTCCCTCCCCTCACATGGTGTT AGGGTGTCATC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79326371	G G	GTACCCTC others(280): Show GTACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTGTACCCTCC CTCCCCTCACATGGTGTTAGGGTGTCATCTCTGTACCCTTCCTCCCCTCA CATGGTGTTAGTGTGTCATCTCTGCACACTCCCTCCCCTCACATGGTGTT AGGGTGTCATCTCTATACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCA TCTCTGTACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCCCTGCAC ACTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTA	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA18747.hp1 NA18942.hp2 others(5): Show HG02135.hp1 NA18747.hp1 NA18942.hp2 NA18951.hp1 NA19002.hp1 NA19004.hp1 NA19079.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0026 a0001c0001 a0001c0026	a0001c0001t0001 a0001c0026t0001 a0001c0001t0001 a0001c0026t0001	a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0032 others(5): Show a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0084 a0001c0026t0001g0038	8	62	0.1290	287	c.177 others(306): Show c.1774-2692_1774-2691insTCTGTACCCTTCCTCCCCTCACATGG TGTTAGTGTGTCATCTCTGCACACTCCCTCCCCTCACATGGTGTTAGGGT GTCATCTCTATACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCT GTACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCCCTGCACACTCC CTCCCCTCACATGGTGTTAGGGTGTCATCTCTATACCCTCCCTCCCCTCA CATGGTGTTAGGGTGTCATCTCTGTACCCTCCCTCCCCTCACATGGTGTT AGGGTGTCATC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79326400	G G	GGTGTCAT others(280): Show GGTGTCATCTCTGTACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATC TCTGTACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTGTACCC TTCCTCCCCTCACATGGTGTTAGTGTGTCATCTCTGCACACTCCCTCCCC TCACATGGTGTTAGGGTGTCATCTCTATACCCTCCCTCCCCTCACATGGT GTTAGGGTGTCATCTCTGTACCCTCCCTCCCCTCACATGGTGTTAGGGTG TCATCTCTATACCCTCCCTCCCCTCACATGGTGTTAGT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0002 a0002c0018t0002	a0002c0018t0002g0114 a0002c0018t0002g0114	1	274	0.0036	287	c.177 others(306): Show c.1774-2692_1774-2691insTCTGTACCCTCCCTCCCCTCACATGG TGTTAGGGTGTCATCTCTGTACCCTTCCTCCCCTCACATGGTGTTAGTGT GTCATCTCTGCACACTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCT ATACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTGTACCCTCC CTCCCCTCACATGGTGTTAGGGTGTCATCTCTATACCCTCCCTCCCCTCA CATGGTGTTAGTGTGTCATCTCTGTACCCTCCCTCCCCTCACATGGTGTT AGGGTGTCATC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79326400	G G	GGTGTCAT others(280): Show GGTGTCATCTCTGTACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATC TCTGTACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTGTACCC TTCCTCCCCTCACATGGTGTTAGTGTGTCATCTCTGCACACTCCCTCCCC TCACATGGTGTTAGGGTGTCATCTCTATACCCTCCCTCCCCTCACATGGT GTTAGGGTGTCATCTCTGTACCCTTCCTCCCCTCACATGGTGTTAGTGTG TCATCTCTGCACACTCCCTCCCCTCACATGGTGTTAGT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA19086.hp1 NA18979.hp2 NA19086.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0123 a0001c0003t0003g0124 a0001c0003t0003g0123 a0001c0003t0003g0124	2	275	0.0073	287	c.177 others(306): Show c.1774-2692_1774-2691insTCTGTACCCTCCCTCCCCTCACATGG TGTTAGGGTGTCATCTCTGTACCCTTCCTCCCCTCACATGGTGTTAGTGT GTCATCTCTGCACACTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCT ATACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTGTACCCTTC CTCCCCTCACATGGTGTTAGTGTGTCATCTCTGCACACTCCCTCCCCTCA CATGGTGTTAGTGTGTCATCTCTGTACCCTCCCTCCCCTCACATGGTGTT AGGGTGTCATC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
B3GAT1_chr11_134373508_134417242	134408312	G G	GATTCCAG others(280): Show GATTCCAGTGGGGTGAGGAGGGAGGTGGGACAGCCTGCACCGATTCCAGT GGGGTGAGGAGGGAGGTGGGACAGCCTCCACCGATTCCAGTGGGGTGAGG AGGGAGGTGGGACAGCCTGCACCGACTCCAGTGGGGTGAGGAGGGAGGTG GGACAGCCTGCACCGATTCCAGTGGGGTGAGGAGGGAGGTGGGACAGCCT GCACCGATTCCAGTGGGGTGAGGAGGGAGGTGGGATAGCCTGCACCTATT CCAGTGGGGTGAGGAGGGAGGTGGGACAGCCTGCACCT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0212 a0001c0003t0001g0212	1	348	0.0029	287	c.-28 others(306): Show c.-282+3208_-282+3494dupAGGTGCAGGCTGTCCCACCTCCCTCC TCACCCCACTGGAATAGGTGCAGGCTATCCCACCTCCCTCCTCACCCCAC TGGAATCGGTGCAGGCTGTCCCACCTCCCTCCTCACCCCACTGGAATCGG TGCAGGCTGTCCCACCTCCCTCCTCACCCCACTGGAGTCGGTGCAGGCTG TCCCACCTCCCTCCTCACCCCACTGGAATCGGTGGAGGCTGTCCCACCTC CCTCCTCACCCCACTGGAATCGGTGCAGGCTGTCCCACCTCCCTCCTCAC CCCACTGGAAT	B3GAT1	ENSG00000109956.13	transcript	ENST00000312527.9	protein_coding	1/5			chr11	TogoVar
B3GAT1_chr11_134373508_134417242	134408430	G G	GCACCTAT others(280): Show GCACCTATTCCAGTGGGGTGAGGAGGGAGGTGGGACAGCCTGCACCGATT CCAGTGGGGTGAGGAGGGAGGTGGGACAGCCTGCACCGATTCCAGTGGGG TGAGGAGGGAGGTGGGACAGCCTGCACCGATTCCAGTGGGGTGAGGAGGG AGGTGGGACAGCCTGCACCGATTCCAGTGGGGTGAGGAGGGAGGTGGGAC AGCCTCCACCGATTCCAGTGGGGTGAGGAGGGAGGTGGGACAGCCTGCAC CGACTCCAGTGGGGTGAGGAGGGAGGTGGGACAGCCTC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0227 a0001c0001t0004g0227	1	348	0.0029	287	c.-28 others(306): Show c.-282+3376_-282+3377insGAGGCTGTCCCACCTCCCTCCTCACC CCACTGGAGTCGGTGCAGGCTGTCCCACCTCCCTCCTCACCCCACTGGAA TCGGTGGAGGCTGTCCCACCTCCCTCCTCACCCCACTGGAATCGGTGCAG GCTGTCCCACCTCCCTCCTCACCCCACTGGAATCGGTGCAGGCTGTCCCA CCTCCCTCCTCACCCCACTGGAATCGGTGCAGGCTGTCCCACCTCCCTCC TCACCCCACTGGAATCGGTGCAGGCTGTCCCACCTCCCTCCTCACCCCAC TGGAATAGGTG	B3GAT1	ENSG00000109956.13	transcript	ENST00000312527.9	protein_coding	1/5			chr11	TogoVar
B3GNTL1_chr17_82937149_83056770	82970597	C C	CAGCGTGG others(280): Show CAGCGTGGCCGCGACCTCCCCACCCAGCGTGGCCGCGACCTCCGCACCCA GCGTGGCCGCGACCTCCCCACCCAGCGTGGCCGCGACCTCCGCACCCAGC GTGGACTGACCTCCGCACCCAGCGTGGCCGTGACCTCCGCACCCAGCGTG GCCGCGACCTCCCCACCCAGCGTGGCCGTGACCTCCGCACCCAGTGTGGC CGTGACCTCCGCACCCAGTGTGGCTGTGACCTCTGCACATGGCGTGGCCG TGACCTCCGCACCCAGTGTGGCTGTGACCTCTGCACAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0158 a0001c0001t0006g0158	1	266	0.0038	287	c.460 others(304): Show c.460-4852_460-4851insATGTGCAGAGGTCACAGCCACACTGGGT GCGGAGGTCACGGCCACGCCATGTGCAGAGGTCACAGCCACACTGGGTGC GGAGGTCACGGCCACACTGGGTGCGGAGGTCACGGCCACGCTGGGTGGGG AGGTCGCGGCCACGCTGGGTGCGGAGGTCACGGCCACGCTGGGTGCGGAG GTCAGTCCACGCTGGGTGCGGAGGTCGCGGCCACGCTGGGTGGGGAGGTC GCGGCCACGCTGGGTGCGGAGGTCGCGGCCACGCTGGGTGGGGAGGTCGC GGCCACGCT	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83026624	G G	GAGGAAAG others(280): Show GAGGAAAGGGAGCCTGCAGACAAACCCACCACCGACCGATACACAGAGGA GGGCAGGGAGCCTGCATACAAACCCACCACCGACCGATACACAGAGGAGG GCAGGGAGCCTGCATACAAACCCACCCTCGACAGACACACAGAGCGGGGC AGGAGCCTGCAGACAAACCCACCCTCGACAGACACACAGAGCAGGGCAGG AAGCCTGCAGACAAACCCACCCTCGACAGACACACAGAGGAGGGCAGGGA GCCTGCAGACAAACCCACCCTCGACAGACACGCAGAGC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03453.hp2 HG03579.hp1 others(1): Show HG02486.hp1 HG03453.hp2 HG03579.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0014 a0001c0001 a0001c0002 a0001c0014	a0001c0001t0002 a0001c0002t0016 a0001c0014t0018 a0001c0001t0002 a0001c0002t0016 a0001c0014t0018	a0001c0001t0002g0134 a0001c0002t0016g0135 a0001c0002t0016g0136 others(1): Show a0001c0001t0002g0134 a0001c0002t0016g0135 a0001c0002t0016g0136 a0001c0014t0018g0050	4	261	0.0153	287	c.297 others(304): Show c.297+8410_297+8411insGCTCTGCGTGTCTGTCGAGGGTGGGTTT GTCTGCAGGCTCCCTGCCCTCCTCTGTGTGTCTGTCGAGGGTGGGTTTGT CTGCAGGCTTCCTGCCCTGCTCTGTGTGTCTGTCGAGGGTGGGTTTGTCT GCAGGCTCCTGCCCCGCTCTGTGTGTCTGTCGAGGGTGGGTTTGTATGCA GGCTCCCTGCCCTCCTCTGTGTATCGGTCGGTGGTGGGTTTGTATGCAGG CTCCCTGCCCTCCTCTGTGTATCGGTCGGTGGTGGGTTTGTCTGCAGGCT CCCTTTCCT	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
BAZ2B_chr2_159313979_159621548	159501205	T T	TTATATAT others(280): Show TTATATATATTATATATATATTTATATATATATATAATATATATATTTTT ATATATATATATTATATATATATTTATATATATATTATATATATATTTAT ATATATATATATTATATATATTTATATATATATATATTATATATATATTT ATATATATATATATTATATATATATTTATATATATATATATTATATATAT ATTTATATATATATATATTATATATATATTTATATATATATATATTATAT ATATATTTATATATATATATTATATATATATTTATATA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0007 a0006c0006t0001g0007	1	163	0.0061	287	c.-2- others(304): Show c.-2-22485_-2-22484insTATATAAATATATATATAATATATATAT ATAAATATATATATAATATATATATATATAAATATATATATAATATATAT ATATATAAATATATATATAATATATATATATATAAATATATATATAATAT ATATATATATAAATATATATATAATATATATATATATAAATATATATAAT ATATATATATATAAATATATATATAATATATATATAAATATATATATAAT ATATATATATAAAAATATATATATTATATATATATATAAATATATATATA ATATATATA	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159501205	T T	TTATATAT others(280): Show TTATATATATTATATATATATTTATATATATATATAATATATATATTTTT ATATATATATATTATATATATATTTATATATATTATATATATATTTATAT ATATATATATTATATATATTTATATATATATATATTATATATATATTTAT ATATATATATATTATATATATATTTATATATATATATATTATATATATAT TTATATATATATATATTATATATATATTTATATATATATATATTATATAT ATATTTATATATATATATATTATATATATATTTATATA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0086 a0001c0001t0007g0086	1	163	0.0061	287	c.-2- others(304): Show c.-2-22485_-2-22484insTATATAAATATATATATAATATATATAT ATATAAATATATATATAATATATATATATATAAATATATATATAATATAT ATATATATAAATATATATATAATATATATATATATAAATATATATATAAT ATATATATATATAAATATATATATAATATATATATATATAAATATATATA ATATATATATATATAAATATATATATAATATATATAAATATATATATAAT ATATATATATAAAAATATATATATTATATATATATATAAATATATATATA ATATATATA	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159501216	A A	ATATATAT others(280): Show ATATATATATTTATATATATATATAATATATATATTTTTATATATATATA TTATATATATATATATATATATTATATATATATTTATATATATATATATA TTATATATATTTATATATATATATATTATATATATATTTATATATATATA TTATATATATATTTATATATATATATATTATATATATATTTATATATATA TATATTATATATATATTTATATATATATATATTATATATATATTTATATA TATATATATTATATATATATTTATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0048 a0002c0002t0001g0048	1	211	0.0047	287	c.-2- others(304): Show c.-2-22496_-2-22495insATATATATATATATATAAATATATATAT AATATATATATATATAAATATATATATAATATATATATATATAAATATAT ATATAATATATATATATATAAATATATATATAATATATATATATATAAAT ATATATATAATATATATATATAAATATATATATAATATATATATATATAA ATATATATAATATATATATATATATAAATATATATATAATATATATATAT ATATATATAATATATATATATAAAAATATATATATTATATATATATATAA ATATATATA	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159501216	A A	ATATATAT others(280): Show ATATATATATTTATATATATATATAATATATATATTTTTATATATATATA TTATATATATATTTATATATATATTATATATATATTTATATATATATATA TTATATATATTTATATATATATATATTATATATATATTTATATATATATA TTATATATATATTTATATATATATATATTATATATATATTTATATATATA TATATTATATATATATTTATATATATATATATTATATATATATTTATATA TATATATATTATATATATATTTATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0049 a0002c0002t0001g0049	1	211	0.0047	287	c.-2- others(304): Show c.-2-22496_-2-22495insATATATATATATATATAAATATATATAT AATATATATATATATAAATATATATATAATATATATATATATAAATATAT ATATAATATATATATATATAAATATATATATAATATATATATATATAAAT ATATATATAATATATATATATAAATATATATATAATATATATATATATAA ATATATATAATATATATATATATAAATATATATATAATATATATATAAAT ATATATATAATATATATATATAAAAATATATATATTATATATATATATAA ATATATATA	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
BTAF1_chr10_91918770_92036437	92012179	C C	CCCTCCCC others(280): Show CCCTCCCCTCCTCCCCTCCCCTCCTCTCCCCTCCTCCCCTCCCCTCCTCT CCTCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCTC CCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCC CCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTTCT CCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	170	0.0059	287	c.431 others(304): Show c.4311+766_4311+767insTCCCCTCCTCCCCTCCCCTCCTCTCCCC TCCTCCCCTCCCCTCCTCTCCTCTCCTCCCCTCCCCTCCCCTCCTCCCCT CCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCC TCCCCTCCCCTCCCCTTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CCCTCCTCC	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	30/37		INFO_REALIGN_3_PRIME	chr10	TogoVar
C10orf90_chr10_126419997_126675693	126564835	T T	TATATATA others(280): Show TATATATATTATATATATTATATATAATATATATTATATATTATATATAT TATATATAATATATATTATATATTATATATATTATATATAATATATATTA TATATTATATATAATATATGTTATATATAATATATATTATATATTATATA TAATATAAAATATATATTATATATAATATATATTATATATTATATAAAAT ATATATTATATATAATATATATTATATATTATATAATATATATTATATAT AATATATTATATATTATATAAAATATATATTATATATA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0001 a0007c0016t0001	a0007c0016t0001g0116 a0007c0016t0001g0116	1	66	0.0152	287	c.314 others(306): Show c.314-50897_314-50896insTATATATAATATATATTTTATATAAT ATATAATATATTATATATAATATATATTATATAATATATAATATATATTA TATATAATATATATTTTATATAATATATAATATATATTATATATAATATA TATTTTATATTATATATAATATATAATATATATTATATATAACATATATT ATATATAATATATAATATATATTATATATAATATATATAATATATAATAT ATATTATATATAATATATATAATATATAATATATATTATATATAATATAT ATAATATATAT	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
C18orf63_chr18_74310839_74364189	74362110	T T	TTATATAA others(280): Show TTATATAATTTATAATATATGCATATATTATATAATTTATAATATATGCA TATATTATATAATTTATAATATGTGCATATATAATATATTTATAATATAT GCATATATTATATAATTTATAATATATGCATATAATATAATTTATAATAT ATGCATATAATATAATTTATAATATATGCATATATTATATAATTTGTAAT ATATGCATATATTATATAATTTGTAATATATGCATATATTATATAATTTG TAATATATGCATATATTATATAATTTGTAATATATGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0022 a0001c0010t0022	a0001c0010t0022g0207 a0001c0010t0022g0207	1	364	0.0027	287	c.56 others(298): Show c.5663_*5664insTATATAATTTATAATATATGCATATATTATATAA TTTATAATATATGCATATATTATATAATTTATAATATGTGCATATATAAT ATATTTATAATATATGCATATATTATATAATTTATAATATATGCATATAA TATAATTTATAATATATGCATATAATATAATTTATAATATATGCATATAT TATATAATTTGTAATATATGCATATATTATATAATTTGTAATATATGCAT ATATTATATAATTTGTAATATATGCATATATTATATAATTTGTAATATAT GCA	C18orf63	ENSG00000206043.7	transcript	ENST00000579455.2	protein_coding		2922		chr18	TogoVar
C2CD4C_chr19_400445_414147	405002	T T	TGGGGTCC others(280): Show TGGGGTCCTGCCCTGAGGGGTGTGGGGGGGAACGGGGTCCTGCCCTGAGG GGTGTGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGAACGGGGT CCTGCCCTGAGGGGTGTGGAGGGGGGATGGGGTCCTGCCCTGAGGGGTGT GGGGGAGGGACGGGGTCCTGCCCTGAGGGGTGTGTGGGGGGGAACGGGGT CCTGCCCTGAGGGGTGTGGGGGGGACGGGGTCCTGCCTTGAGGGGTGTGG GGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0109 a0001c0001t0109	a0001c0001t0109g0089 a0001c0001t0109g0089	1	114	0.0088	287	c.20 others(298): Show c.2093_*2094insGTCCCCCCCACACCCCTCAGGGCAGGACCCCGTC CCCCCCACACCCCTCAAGGCAGGACCCCGTCCCCCCCACACCCCTCAGGG CAGGACCCCGTTCCCCCCCACACACCCCTCAGGGCAGGACCCCGTCCCTC CCCCACACCCCTCAGGGCAGGACCCCATCCCCCCTCCACACCCCTCAGGG CAGGACCCCGTTCCCCCCACACCCCTCAGGGCAGGACCCCGTCCCCCCCA CACCCCTCAGGGCAGGACCCCGTTCCCCCCCACACCCCTCAGGGCAGGAC CCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		442		chr19	TogoVar
CACNA1C_chr12_2047987_2702950	2539200	T T	TGACTTAA others(280): Show TGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAG GAGGGTTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGTTTC ATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGTTTCATAAAGATG CAGGCAGGGTTTAAGGACTTAAGGAGGGTTTCATAAAGATGCAGGCAGAG TTTAAGGACTTAAAGAGGGTTTCATAAAGATGCAGGCAGGGTTTAAGGAC TTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0006 a0006	a0006c0028 a0006c0028	a0006c0028t0006 a0006c0028t0006	a0006c0028t0006g0051 a0006c0028t0006g0051	1	103	0.0097	287	c.139 others(308): Show c.1391-10738_1391-10737insAAGGAGGGCTTCATAAAGATGCAG GCAGGGTTTAAGGACTTAAGGAGGGTTTCATAAAGATGCAGGCAGGGTTT AAGGACTTAAGGAGGGTTTCATAAAGATGCAGGCAGGGTTTAAGGACTTA AGGAGGGTTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGTT TCATAAAGATGCAGGCAGAGTTTAAGGACTTAAAGAGGGTTTCATAAAGA TGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAG GGTTTAAGGACTT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1E_chr1_181478517_181813084	181632138	T T	TGACACCT others(280): Show TGACACCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0068 a0001c0001t0011g0068	1	184	0.0054	287	c.952 others(306): Show c.952-19188_952-19187insTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTTTAGCCGGGATG GTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGG ACACCTCTTTT	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	6/47		INFO_REALIGN_3_PRIME	chr1	TogoVar
CALN1_chr7_71774491_72417338	72205551	A A	AAAAAAAA others(280): Show AAAAAAAAAAATATATATATATATACACACATATATATATACATATATAT ACACACATATATATATACATATATATACACATATATATATACATATATAT ACACATATATATATACATATATATACACATATATATATACATATATATAC ACATATATATATACATATATATACACATATATATATATACATATATATAC ACATATATATATATACATATATATACACATATATATATACATATATATAC ACATATATATATACATATATATACACATATATATACAC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0106 a0001c0001t0010g0106	1	52	0.0192	287	c.244 others(306): Show c.244+73134_244+73135insGTGTATATATATGTGTATATATATGT ATATATATATGTGTATATATATGTATATATATATGTGTATATATATGTAT ATATATATATGTGTATATATATGTATATATATATATGTGTATATATATGT ATATATATATGTGTATATATATGTATATATATATGTGTATATATATGTAT ATATATATGTGTATATATATGTATATATATATGTGTATATATATGTATAT ATATATGTGTGTATATATATGTATATATATATGTGTGTATATATATATAT ATTTTTTTTTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CAPN15_chr16_522712_559636	544746	T T	TCGCCTCC others(280): Show TCGCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGC CTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCC ACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCC CACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGT CGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCG CCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA19070.hp1 NA18948.hp1 NA19070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0173 a0001c0002t0001g0174	2	358	0.0056	287	c.-22 others(304): Show c.-22-2069_-22-2068insCCTCCCCCACGTCGTCGTCTCCCCCACG TCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCT CCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCC CCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCC CACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCA CGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCT CCCCTCACG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCDC110_chr4_185440182_185476733	185460992	T T	TGGTAGTC others(280): Show TGGTAGTCACGTTTTTGTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTT TCGCCCAAGCTGGACTGCAGTGGCGCTATCCCGGCTCACTGCAAGCTCCG CCTCTTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA TTACAGGCACCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp2 NA21309.hp1 NA21309.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0003 a0007c0011t0003	a0007c0011t0003g0171 a0007c0011t0003g0291 a0007c0011t0003g0171 a0007c0011t0003g0291	2	270	0.0074	287	c.348 others(300): Show c.348+56_348+57insGTAATCCCAGCACTTTGGGAGGCCGAGGCGGG CGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAAC CCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGGGTGC CTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCC AAGAGGCGGAGCTTGCAGTGAGCCGGGATAGCGCCACTGCAGTCCAGCTT GGGCGAAAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAACAAAAACGTGA CTACC	CCDC110	ENSG00000168491.10	transcript	ENST00000307588.8	protein_coding	5/6			chr4	TogoVar
CCDC110_chr4_185440182_185476733	185460992	T T	TGGTAGTC others(280): Show TGGTAGTCACGTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTT TCGCCCAAGCTGGACTGCAGTGGCGCTATCCCGGCTCACTGCAAGCTCCG CCTCTTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA TTACAGGCACCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01934.hp1 HG01975.hp1 others(12): Show HG01891.hp1 HG01934.hp1 HG01975.hp1 HG02155.hp1 HG02280.hp1 HG02896.hp1 HG02897.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03579.hp2 HG03654.hp1 HG03834.hp2 HG03942.hp2 HG04228.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0002 a0002c0004t0001 a0002c0004t0002 others(1): Show a0002c0002t0002 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003	a0002c0002t0002g0219 a0002c0002t0002g0220 a0002c0004t0001g0032 others(11): Show a0002c0002t0002g0219 a0002c0002t0002g0220 a0002c0004t0001g0032 a0002c0004t0001g0218 a0002c0004t0001g0230 a0002c0004t0001g0316 a0002c0004t0001g0366 a0002c0004t0002g0356 a0002c0004t0003g0122 a0002c0004t0003g0148 a0002c0004t0003g0149 a0002c0004t0003g0186 a0002c0004t0003g0355 a0002c0004t0003g0357	15	283	0.0530	287	c.348 others(300): Show c.348+56_348+57insGTAATCCCAGCACTTTGGGAGGCCGAGGCGGG CGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAAC CCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGGGTGC CTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCC AAGAGGCGGAGCTTGCAGTGAGCCGGGATAGCGCCACTGCAGTCCAGCTT GGGCGAAAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAACGTGA CTACC	CCDC110	ENSG00000168491.10	transcript	ENST00000307588.8	protein_coding	5/6			chr4	TogoVar

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