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
VPS50_chr7_93227366_93366123	93347520	T T	TTTGTTTT others(398): Show TTTGTTTTTTGGAGACAAGATCGTGCTCCGTCACTCAGGCTGGAGTGCAA TGGCATGATCACAGCTCACTGCAGTCTTGACCTCCCAGGTTCAAGCGATC CATTCACCTTAGCCCCCTGAGTAGCTGAGTCTACAGTCACCTGCCACCAC ACCCAGCTAATTTTTTTTTTTTTTTTGAGATGGCATTTCCCTCTTGTCAT CCAGGCTGGGGTGCAATGGTGTGATCTTGGCTCACTGCAACCTCTGCCTC CCGAGTTCAAGCGATTCTCCTGCCTCGAACTCCTGAGCAACACGCCCAGC TAATATTTAAAAATTTGTAGAGATAAGGGTCTCAGCTTGTTGCCCAGGAT GGTCTTGAACTCCTAGGCTCAAGCCATCCTCCTGCCTCAGCCTCCTAAAG TGCTGG	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0125 a0001c0001t0002g0125	1	111	0.0090	405	c.220 others(424): Show c.2208-1191_2208-1190insTTGTTTTTTGGAGACAAGATCGTGCT CCGTCACTCAGGCTGGAGTGCAATGGCATGATCACAGCTCACTGCAGTCT TGACCTCCCAGGTTCAAGCGATCCATTCACCTTAGCCCCCTGAGTAGCTG AGTCTACAGTCACCTGCCACCACACCCAGCTAATTTTTTTTTTTTTTTTG AGATGGCATTTCCCTCTTGTCATCCAGGCTGGGGTGCAATGGTGTGATCT TGGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCGATTCTCCTGCCTCG AACTCCTGAGCAACACGCCCAGCTAATATTTAAAAATTTGTAGAGATAAG GGTCTCAGCTTGTTGCCCAGGATGGTCTTGAACTCCTAGGCTCAAGCCAT CCTCCTGCCTCAGCCTCCTAAAGTGCTGG	VPS50	ENSG00000004766.17	transcript	ENST00000305866.10	protein_coding	23/27			chr7	TogoVar
WDR70_chr5_37374318_37758435	37557901	A A	ATACTCTT others(398): Show ATACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAA AAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCT TCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAA CTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTG AAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCT TTTGAAAACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTA CTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAG AGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCA AAAGAG	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02615.hp2 HG02056.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0223 a0001c0001t0001g0109 a0001c0001t0001g0223	2	10	0.2000	405	c.917 others(424): Show c.917+41323_917+41324insTACTCTTCAAAAGAGTACTCTTTTGA AAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTT TTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTAC TCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGA GTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAA AAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAATACTCT TCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATA CTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTG AATACTCTTCAAAAGAGTACTCTTTTGAA	WDR70	ENSG00000082068.9	transcript	ENST00000265107.9	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
WDR70_chr5_37374318_37758435	37557901	A A	ATACTCTT others(398): Show ATACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAA AAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCT TCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAA CTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTG AAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCT TTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTA CTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAG AGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCA AAAGAG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02080.hp2 HG01074.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0110 a0001c0005t0001g0197 a0001c0001t0001g0110 a0001c0005t0001g0197	2	10	0.2000	405	c.917 others(424): Show c.917+41323_917+41324insTACTCTTCAAAAGAGTACTCTTTTGA ATACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTT TTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTAC TCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGA GTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAA AAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCT TCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATA CTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTG AATACTCTTCAAAAGAGTACTCTTTTGAA	WDR70	ENSG00000082068.9	transcript	ENST00000265107.9	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
WDR70_chr5_37374318_37758435	37557901	A A	ATACTCTT others(398): Show ATACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAA AAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCT TCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAA CTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTG AAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCT TTTGAAAACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTA CTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAG AGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCA AAAGAG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02572.hp1 NA18952.hp2 others(1): Show HG00733.hp1 HG02572.hp1 NA18952.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0106 a0001c0001t0001g0114 others(1): Show a0001c0001t0001g0061 a0001c0001t0001g0106 a0001c0001t0001g0114 a0001c0001t0001g0200	4	12	0.3333	405	c.917 others(424): Show c.917+41323_917+41324insTACTCTTCAAAAGAGTACTCTTTTGA ATACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTT TTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTAC TCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGA GTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAA AAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAATACTCT TCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATA CTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTG AATACTCTTCAAAAGAGTACTCTTTTGAA	WDR70	ENSG00000082068.9	transcript	ENST00000265107.9	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
ZNF365_chr10_62369369_62407450	62370782	C C	CATCATAT others(398): Show CATCATATACATCATATACATCATATATGATATATACATCATATATCACA CATATGATATATACATCATATATCACACATATGATATACACATCATATAT CACACATATGATATACATCATATATCACACATATGATATACATCATATAT CACACATATGATATACATCATATATCACACATATGATATACATCATATAT CACACATATGATATACATCATATATCACACATATGATATATATCATATAT CACACATATGATATATATCATATATCACACATATGATATATATCATATAT CACACATATGATATATATCATACATATCACATATATCATATATATCATAC ATATCACATATATCATATATATCATACATATCACATATATGATATATATC ATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0024 a0002c0002t0001g0024	1	166	0.0060	405	c.-36 others(416): Show c.-3690_-3689insATCATATACATCATATACATCATATATGATATAT ACATCATATATCACACATATGATATATACATCATATATCACACATATGAT ATACACATCATATATCACACATATGATATACATCATATATCACACATATG ATATACATCATATATCACACATATGATATACATCATATATCACACATATG ATATACATCATATATCACACATATGATATACATCATATATCACACATATG ATATATATCATATATCACACATATGATATATATCATATATCACACATATG ATATATATCATATATCACACATATGATATATATCATACATATCACATATA TCATATATATCATACATATCACATATATCATATATATCATACATATCACA TATATGATATATATCATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3586		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370782	C C	CATCATAT others(398): Show CATCATATACATCATATACATCATATATGATATATACATCATATATCACA CATATGATATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATATATCATATATCA CACATATGATATATATCATATATCACACATATGATATATATCATACATAT CACATATATCATATATATCATACATATCACATATATCATATATATCATAC ATATCACATATATCATATATATCATACATATCACATATATCATATATATC ATACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	166	0.0060	405	c.-36 others(416): Show c.-3690_-3689insATCATATACATCATATACATCATATATGATATAT ACATCATATATCACACATATGATATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATATATCATATATCACACATATGATATATATCATATATCACACATATGAT ATATATCATACATATCACATATATCATATATATCATACATATCACATATA TCATATATATCATACATATCACATATATCATATATATCATACATATCACA TATATCATATATATCATACAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3586		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370782	C C	CATCATAT others(398): Show CATCATATACATCATATACATCATATATGATATATACATCATATATCACA CATATGATATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATATATCATATATCA CACATATGATATATATCATATATCACACATATGATATATATCATACATAT CACATATATCATATATATCATACATATCACATATATCATATATATCATAC ATATCACATATATGATATATATCATACATATCACATATATCATATATATC ATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0013 a0002c0002t0001g0013	1	166	0.0060	405	c.-36 others(416): Show c.-3690_-3689insATCATATACATCATATACATCATATATGATATAT ACATCATATATCACACATATGATATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATATATCATATATCACACATATGATATATATCATATATCACACATATGAT ATATATCATACATATCACATATATCATATATATCATACATATCACATATA TCATATATATCATACATATCACATATATGATATATATCATACATATCACA TATATCATATATATCATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3586		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370782	C C	CATCATAT others(398): Show CATCATATACATCATATACATCATATATGATATATACATCATATATCACA CATATGATATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATATATCATATATCA CACATATGATATATATCATATATCACACATATGATATATATCATACATAT CACATATATCATATATATCATACATATCACATATATCATATATATCATAT ATATCACATATATGATATATATCATATATATCACATATATCATATATATC ATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0010 a0001c0001t0004g0010	1	166	0.0060	405	c.-36 others(416): Show c.-3690_-3689insATCATATACATCATATACATCATATATGATATAT ACATCATATATCACACATATGATATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATATATCATATATCACACATATGATATATATCATATATCACACATATGAT ATATATCATACATATCACATATATCATATATATCATACATATCACATATA TCATATATATCATATATATCACATATATGATATATATCATATATATCACA TATATCATATATATCATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3586		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370977	T T	TCATATGT others(398): Show TCATATGTGATATATATGGTATATATGATATATATCATATATATCATATG TGATATATATGATACATATGACATATATCATATGTGATACATATGACATA TATCATATGTGATACATATGACATATATCATATGTGATACATATGACATA TATCATATGTGATACATATGGCATATATCATATGTGATATATGTCACATA TATCATATGTGATATATGTCACATATATCATATGTGATATATGTCACATA TATCACATGTGATATATATCATATATATCATATATATGATATATATCATA TATATCATATATATGACATATATCATATATCATATATATGATATATATGA CATATATCATATATCATATATATGATATATATCACATATATATATCATAT ATATCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0026 a0002c0002t0001g0026	1	328	0.0030	405	c.-34 others(416): Show c.-3495_-3494insCATATGTGATATATATGGTATATATGATATATAT CATATATATCATATGTGATATATATGATACATATGACATATATCATATGT GATACATATGACATATATCATATGTGATACATATGACATATATCATATGT GATACATATGACATATATCATATGTGATACATATGGCATATATCATATGT GATATATGTCACATATATCATATGTGATATATGTCACATATATCATATGT GATATATGTCACATATATCACATGTGATATATATCATATATATCATATAT ATGATATATATCATATATATCATATATATGACATATATCATATATCATAT ATATGATATATATGACATATATCATATATCATATATATGATATATATCAC ATATATATATCATATATATCA	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3391		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370978	C C	CATATGTG others(398): Show CATATGTGATATATATGGTATATATGATGATATATCATATGTGATATATG TGATACATATGACATATATCATATGTGATACATATGACATATATCATATG TGATACATATGACATATATCATATGTGATATATGTCACATATATCATATG TGATATATGTCACATATATCACATGTGATATATGTCACATATATCACATG TGATATATATCATATATATCATATATATGATATATATCATATATATCATA TATATGATATATATCATATATCATATATATGATATATATCATATATCATA TATATGATATATATCACATATATATATCATATATATCACATATATATCAT ATATATCATATATATATCATATATATGATATATATCATATATATATCATA TATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0077 a0001c0001t0021g0077	1	223	0.0045	405	c.-34 others(416): Show c.-3494_-3493insATATGTGATATATATGGTATATATGATGATATAT CATATGTGATATATGTGATACATATGACATATATCATATGTGATACATAT GACATATATCATATGTGATACATATGACATATATCATATGTGATATATGT CACATATATCATATGTGATATATGTCACATATATCACATGTGATATATGT CACATATATCACATGTGATATATATCATATATATCATATATATGATATAT ATCATATATATCATATATATGATATATATCATATATCATATATATGATAT ATATCATATATCATATATATGATATATATCACATATATATATCATATATA TCACATATATATCATATATATCATATATATATCATATATATGATATATAT CATATATATATCATATATATG	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3390		chr10	TogoVar
ZNF705A_chr12_8152015_8185046	8184239	C C	CGGCCAGC others(398): Show CGGCCAGCCACCCCGTCCGGGAAGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCTCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAG GTGAGGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGCCGCTCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCC CCGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCC CCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0195 a0002c0001t0002g0195	1	23	0.0435	405	c.66 others(416): Show c.6656_*6657insGGCCAGCCACCCCGTCCGGGAAGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCTCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCAGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCACCTGGCCAGC CGCCCCGTCCGGGAGGTGAGGGGGCGCCTCTGCCCGGCCGCCCCTACTGG GAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCTCCGTCCGGGAGGGAGGT GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGATCAGCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGTCAGCCCCCCACCT	ZNF705A	ENSG00000196946.11	transcript	ENST00000396570.8	protein_coding		4194		chr12	TogoVar
ZNF705A_chr12_8152015_8185046	8184239	C C	CGGCCAGC others(398): Show CGGCCAGCCGCCCCGTCCGGGAAGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCTCCGTCCGGGA GGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCTGCCCCGTCCGGGA GGGAGGTGGGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGA GGTGAGGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCTCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGAGGTCAGCCCC CCGCCCAGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCC CCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0122 a0001c0002t0001g0122	1	23	0.0435	405	c.66 others(416): Show c.6656_*6657insGGCCAGCCGCCCCGTCCGGGAAGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCTCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAG CTGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCACCTGGCCAG CCGCCCCGTCCGGGAGGTGAGGGGGCGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCTCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGAGGTCAGCCCCCCGCCCAGCCAGCTGCCCCGTCCGGGAGGGAGGTG GGGGGGGTCAGCCCCCCACCT	ZNF705A	ENSG00000196946.11	transcript	ENST00000396570.8	protein_coding		4194		chr12	TogoVar
ZNF705A_chr12_8152015_8185046	8184239	C C	CGGCCAGC others(398): Show CGGCCAGCCGCCCCGTCCGGGAAGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCTCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCTGCCCCCGTCCGGGA GGGAGGTGGGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGA GGTGAGGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCTCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGAGGTCAGCCCC CCGCCCAGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCC CCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0015 a0001c0002t0001g0015	1	23	0.0435	405	c.66 others(416): Show c.6656_*6657insGGCCAGCCGCCCCGTCCGGGAAGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCTCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGC TGCCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCACCTGGCCAG CCGCCCCGTCCGGGAGGTGAGGGGGCGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCTCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGAGGTCAGCCCCCCGCCCAGCCAGCTGCCCCGTCCGGGAGGGAGGTG GGGGGGGTCAGCCCCCCACCT	ZNF705A	ENSG00000196946.11	transcript	ENST00000396570.8	protein_coding		4194		chr12	TogoVar
ZNF705A_chr12_8152015_8185046	8184239	C C	CGGCCAGC others(398): Show CGGCCAGCCGCCCCGTCCGGGAAGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCTCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCTGCCCCGTCCGGGAG GGAGGTGGGGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGA GGTGAGGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCTCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGAGGTCAGCCCC CCGCCCAGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCC CCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01261.hp2 HG01192.hp1 HG01261.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0009 a0001c0002t0001g0044 a0001c0002t0001g0009 a0001c0002t0001g0044	2	24	0.0833	405	c.66 others(416): Show c.6656_*6657insGGCCAGCCGCCCCGTCCGGGAAGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCTCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGC TGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCACCTGGCCAG CCGCCCCGTCCGGGAGGTGAGGGGGCGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCTCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGAGGTCAGCCCCCCGCCCAGCCAGCTGCCCCGTCCGGGAGGGAGGTG GGGGGGGTCAGCCCCCCACCT	ZNF705A	ENSG00000196946.11	transcript	ENST00000396570.8	protein_coding		4194		chr12	TogoVar
ZNF705A_chr12_8152015_8185046	8184239	C C	CGGCCAGC others(398): Show CGGCCAGCCGCCCCGTCCGGGAAGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCTCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCTGCCCCGTCCGGGAG GGAGGTGGGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAG GTGAGGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGCCGCTCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCC CCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGAGGTCAGCCCCC CGCCCAGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCC CCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG04228.hp2 HG01934.hp2 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0067 a0001c0002t0001g0135 a0001c0002t0001g0067 a0001c0002t0001g0135	2	24	0.0833	405	c.66 others(416): Show c.6656_*6657insGGCCAGCCGCCCCGTCCGGGAAGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCTCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGC TGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCACCTGGCCAGC CGCCCCGTCCGGGAGGTGAGGGGGCGCCTCTGCCCGGCCGCCCCTACTGG GAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCTCCGTCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGAGGTCAGCCCCCCGCCCAGCCAGCTGCCCCGTCCGGGAGGGAGGTGG GGGGGGGTCAGCCCCCCACCT	ZNF705A	ENSG00000196946.11	transcript	ENST00000396570.8	protein_coding		4194		chr12	TogoVar
ZNF705A_chr12_8152015_8185046	8184239	C C	CGGCCAGC others(398): Show CGGCCAGCCGCCCCGTCCGGGAAGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCTCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCTGCCCCGTCCGGGAG GGAGGTGGGGGGGGTCAGCCCCCCCACCTGGCCAGCCGCCCCGTCCGGGA GGTGAGGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCTCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGAGGTCAGCCCC CCGCCCAGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCC CCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0015 a0001c0002t0001g0015	1	23	0.0435	405	c.66 others(416): Show c.6656_*6657insGGCCAGCCGCCCCGTCCGGGAAGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCTCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGC TGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCACCTGGCCAG CCGCCCCGTCCGGGAGGTGAGGGGGCGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCTCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGAGGTCAGCCCCCCGCCCAGCCAGCTGCCCCGTCCGGGAGGGAGGTG GGGGGGGTCAGCCCCCCACCT	ZNF705A	ENSG00000196946.11	transcript	ENST00000396570.8	protein_coding		4194		chr12	TogoVar
ABCB11_chr2_168915781_169036324	168975564	T T	TATATTTA others(399): Show TATATTTATAGATAAATATATCAATATATAAATATTTTTATATTTATAGA TAAATATATCAATATATAAATATTTTTATATTTATAGATAAATATATCAA TATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATT TATAGATAAATATATAAATATTTTTATATTTATAAATATATAAATATTTT TATATTTATAAATATATAAATATTTTTATATTTATAGATAAATATATAAA TATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGATA AATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATA TTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATATAAAAA TATTTAA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0145 a0001c0002t0003g0145	1	154	0.0065	406	c.130 others(425): Show c.1308+1012_1308+1013insTTAAATATTTTTATATTTATCTATAA ATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAA ATATAAAAATATTTATATATTTATAAATATAAAAATATTTATATATTTAT AAATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATAT ATTTATCTATAAATATAAAAATATTTATATATTGATATATTTATCTATAA ATATAAAAATATTTATATATTGATATATTTATCTATAAATATAAAAATAT TTATATATTGATATATTTATCTATAAATAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCC2_chr10_99777640_99857594	99838928	T T	TCCCGGAC others(399): Show TCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTC CCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGC CGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGACGGGGCGGCTGGCCG GGTGGGGGGACTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCG GGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02970.hp2 HG02809.hp2 HG02970.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0010 a0006c0010t0001g0011 a0006c0010t0001g0010 a0006c0010t0001g0011	2	126	0.0159	406	c.361 others(425): Show c.3614+2662_3614+2663insAGGGGGGCCGACCCCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCC CTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCC GGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGACGGGGCGGCTGGCCGG GTGGGGGGACTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGG GCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCGCCCGGACGGGGCGGCTGGCCGGGC	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	25/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99838928	T T	TCCCGGAC others(399): Show TCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGC CGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGACGGGGCGGCTGGCCG GGTGGGGGGACTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCG GGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	125	0.0080	406	c.361 others(425): Show c.3614+2662_3614+2663insAGGGGGGCCGACCCCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCC GGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGACGGGGCGGCTGGCCGG GTGGGGGGACTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGG GCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCGCCCGGACGGGGCGGCTGGCCGGGC	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	25/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACAP3_chr1_1287391_1312930	1288549	C C	CCCCGTGT others(399): Show CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCC CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	262	0.0038	406	c.50 others(417): Show c.5014_*5015insACGGGGCAGAGACACGGGACGGAGCAGAGACACG GGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGA GACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAG CAGAGACACGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGGG ACGGAGCAGAGACACGGGACGGGGCAGAGACACGGGACGGAGCAGAGACA CGGGGGACGGGGCAGAGACACGGGGGACGGGGCAGAGACACGGGACGGAG CAGAGACACGGGACGGAGCAGGGACACGGGACGGAGCAGAGACACGGGAC GGGGCAGAGACACGGGGGACGGGGCAGAGACACGGGACGGAGCAGAGACA CGGGACGGAGCAGAGACACGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3841		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1290173	C C	CCTGCTCC others(399): Show CCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCC CGTGTCTCCGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCATGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTC TGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCC CGTGTCTCTGCCCTGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCC GTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTG TCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CGTGTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	171	0.0058	406	c.33 others(417): Show c.3390_*3391insAGACACGGGACGGAGCAGAGACACGGGACGGAGC AGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGGGACACGGGACG GAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGG GACGGAGCAGAGACACGGGGGACGGGGCAGAGACACGGGACGGAGCAGAG ACACGGGACAGGGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGA GCAGAGACACGGGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACGG GACGGAGCAGAGACATGGGACGGAGCAGAGACACGGGACGGAGCAGAGAC ACGGGGGACGGAGCGGAGACACGGGGGACGGGGCAGAGACACGGGACGGA GCAGGGACACGGGACGGAGCAG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2217		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1290232	G G	GCTCCATC others(399): Show GCTCCATCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCAT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTC CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCCCTGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCAT GTCTCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	219	0.0046	406	c.33 others(417): Show c.3331_*3332insTGGAGACATGGGGGACGGGGCAGAGACACGGGAC GGAGCAGGGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACG GGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGGGA CACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCA GAGACACGGGACGGAGCAGAGACACGGGGGACGGGGCAGAGACACGGGAC GGAGCAGAGACACGGGACAGGGCAGAGACACGGGGGACGGAGCAGAGACA CGGGACGGAGCAGAGACACGGGGGACGGGGCAGAGACACGGGACGGAGCA GAGACACGGGACGGAGCAGAGACATGGGACGGAGCAGAGACACGGGACGG AGCAGAGACACGGGGGATGGAG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2158		chr1	TogoVar
ACOT11_chr1_54543228_54615329	54561916	C C	CCCCCCAC others(399): Show CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACA CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCAGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGAT GGGGCGGCTGGCCGGGTGAGGGGCCGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCTGGGCAGGGG GGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCCGA	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0340 a0001c0001t0008g0340	1	370	0.0027	406	c.33+ others(423): Show c.33+13579_33+13580insACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGGCTGACCCCCCCC CACCTCCCTCCCGGATGGGGCGGCTGGCCGGGTGAGGGGCCGACCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCG GCTGGCTGGGCAGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGCCGACCCCC	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACOT11_chr1_54543228_54615329	54561917	C C	CCCCCCAC others(399): Show CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACA CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCAGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGA TGGGGCGGCTGGCCGGGTGAGGGGCCGACCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCTGGGCAGGGG GGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCCGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00140.hp2 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0009 a0001c0001t0010g0200 a0001c0001t0002g0009 a0001c0001t0010g0200	2	283	0.0071	406	c.33+ others(423): Show c.33+13580_33+13581insACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGGCTGACCCCCCCC CCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGTGAGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCG GCTGGCTGGGCAGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGCCGACCCCC	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACOT11_chr1_54543228_54615329	54561917	C C	CCCCCCCA others(399): Show CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC ACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCTCTCACCTCCCGGACG GGGCAGCTGGCTGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGA TGGGGCGGCTGGCCGGGTGAGGGGCTGACCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCAGGGG GGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCCGA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0169 a0002c0002t0003g0169	1	282	0.0035	406	c.33+ others(423): Show c.33+13581_33+13582insACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCT CTCACCTCCCGGACGGGGCAGCTGGCTGGGCGGGGGGGCTGACCCCCCCC CACCTCCCTCCCGGATGGGGCGGCTGGCCGGGTGAGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG CTGGCTGGGCAGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCCGACCCCCC	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236714019	T T	TACCACTG others(399): Show TACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGT GTTTATGTATACACAGATAACCACTGAAGGGATATGCAAGAGACTGATAG CTTCATTCCTCACTGTGTGTTTATGTATACACAGATACCACTGAAGGGAT ATGCAAGAGACTGATAGCTTCATTCCTAACTGTGTGTTTATGTATACACA GATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGT GTGTTTATGTATACACAGATAACCACTGAAGGGATATGCAAGAGACTGAT AGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATAACCACTGAAGG GATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATAC ACAGATA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0091 a0001c0001t0011g0091	1	336	0.0030	406	c.127 others(423): Show c.127-3771_127-3770insACCACTGAAGGGATATGCAAGAGACTGA TAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATACCACTGAAGG GATATGCAAGAGACTGATAGCTTCATTCCTAACTGTGTGTTTATGTATAC ACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCAC TGTGTGTTTATGTATACACAGATAACCACTGAAGGGATATGCAAGAGACT GATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATAACCACTGA AGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTA TACACAGATAACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCC TCACTGTGTGTTTATGTATACACAGATA	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTRT2_chr1_3016467_3027903	3026038	G G	GTGGTGGT others(399): Show GTGGTGGTGGTGATGATGATGGTGATGATGGTGATGGTGATGATGGTGAT GGTGGTGATGATGGTGGTGATGATGGTGGTGGTGGTGATGATGATGGTGA TGGTGATGATGATGGTGATGATGGTAATGACAATGATGGTGATGATGATA GTAATGACATGGTGGTGGTGATCATGATGATGGTGAGGATGGTGATGGTG ATGATGGTGCTGGTGACGATAATGATGGTGGTGATGATGGTGATGGTGGT GGTGATGATGGTGATGATGACAATGATGGTGATCATGATGGTGATGATGA TGGTGATGGCGATGGTGATGATGGTGGTAATAACATAGTGGTGATGATCA TGATGATGGGGAAGATGGTGGTGGTGATGGTGACAGTGATGATGATGATG ATGGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	357	0.0028	406	c.32 others(417): Show c.3218_*3219insTGGTGGTGGTGATGATGATGGTGATGATGGTGAT GGTGATGATGGTGATGGTGGTGATGATGGTGGTGATGATGGTGGTGGTGG TGATGATGATGGTGATGGTGATGATGATGGTGATGATGGTAATGACAATG ATGGTGATGATGATAGTAATGACATGGTGGTGGTGATCATGATGATGGTG AGGATGGTGATGGTGATGATGGTGCTGGTGACGATAATGATGGTGGTGAT GATGGTGATGGTGGTGGTGATGATGGTGATGATGACAATGATGGTGATCA TGATGGTGATGATGATGGTGATGGCGATGGTGATGATGGTGGTAATAACA TAGTGGTGATGATCATGATGATGGGGAAGATGGTGGTGGTGATGGTGACA GTGATGATGATGATGATGGTGA	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding		3136		chr1	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(399): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGG GGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAG GAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGGGAGGAGGG GAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGG GGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGGAGGGGAGGGGG GGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0057 a0001c0001t0025g0057	1	30	0.0333	406	c.51 others(417): Show c.5165_*5166insCCCCTCCCCCCCTCCCCTCCTCCCCCGTCCCCTC CTCCCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCC CTCCCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCT TCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCCCTCCCCTCCTCCC CTCTCCCCCTCCCCCCTCTCCCCCCTCCCCTCCTCCCTCCTCCCCCCTCC CCTCCTCCCCCCCTCCCCTCCTCCCCCCCTCCTCCCCCCTCCCCTCCTCC CTCCTCCCCCTCCCCCTCCCCCCTCCCCTCCTCCCCCCTCCCCTCCTCCC TCTTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCCTCCCC CCTCCCCTCCTCCCTCTTCCCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4172		chr19	TogoVar
ADGRG2_chrX_18984307_19127468	19074544	T T	TTTCTTCT others(399): Show TTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTTCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTTCTTCTCCTTCTTCCTTCTTCTTCCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCC	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	123	0.0081	406	c.-1- others(421): Show c.-1-5710_-1-5709insGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAA GAAGAAGGAAGAAGGAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAG GAGAAGGAGAAGGAGAAGGAGAAGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAGGAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAG GAGAAGGAGAAGAAGAAGAAGAAGAA	ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	2/28			chrX	TogoVar
AFF2_chrX_148495617_149005663	148581451	T T	TATATACG others(399): Show TATATACGTATACGTGTACACACACACGTATATATACGTATACGTGTACA CACACACGTATATATACGTATACGTGTACACACACACGTATATATACGTA TACGTGTACACACACACGTATATATACGTATACGTGTACACACACACGTA TATACGTATACGTGTACACACACACACGTATATACGTATACGTGTACACA CACATACACGTATATACGTATACGTGTACACACATATACACGTATACGTG TACACACATATACACGTATACGTGTACACACATATACACGTATACGTGTA CACACATATACACGTATACGTGTACACACATATACACGTATACGTGTACA CACATATACACGTATACGTGTACACACATATACACGTATACGTGTACACA CATATAC	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	154	0.0065	406	c.48- others(423): Show c.48-70547_48-70546insTATACGTATACGTGTACACACACACGTA TATATACGTATACGTGTACACACACACGTATATATACGTATACGTGTACA CACACACGTATATATACGTATACGTGTACACACACACGTATATATACGTA TACGTGTACACACACACGTATATACGTATACGTGTACACACACACACGTA TATACGTATACGTGTACACACACATACACGTATATACGTATACGTGTACA CACATATACACGTATACGTGTACACACATATACACGTATACGTGTACACA CATATACACGTATACGTGTACACACATATACACGTATACGTGTACACACA TATACACGTATACGTGTACACACATATACACGTATACGTGTACACACATA TACACGTATACGTGTACACACATATACA	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AGMO_chr7_15195317_15567015	15406286	G G	GTGTGTAT others(399): Show GTGTGTATATATATGGAATATACATATATATGTGTATATATATGGAATAT ACATATATATGTGTATATATATGGAATATACATATATATGTGTATATATA TGGAATATACATATATATGTGTATATATATGGAATATACATATATATGTG TATATATATGGAATATACATATATATGTGTATATATATGGAATATACATA TATATGTGTATATATATGGAATATACATATATATGTGTATATATATGGAA TATACATATATATGTGTATATATATGGAATATACATATATATGTGTATAT ATATGGAATATACATATATATGTGTATATATATGGAATATACATATATAT GTGTATATATATGGAATATACATATATATGTGTATATATATGGAATATAC ATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03471.hp1 HG03098.hp2 HG03471.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0096 a0001c0003t0008g0211 a0001c0003t0008g0096 a0001c0003t0008g0211	2	197	0.0102	406	c.610 others(425): Show c.610-12108_610-12107insTATATATGTATATTCCATATATATAC ACATATATATGTATATTCCATATATATACACATATATATGTATATTCCAT ATATATACACATATATATGTATATTCCATATATATACACATATATATGTA TATTCCATATATATACACATATATATGTATATTCCATATATATACACATA TATATGTATATTCCATATATATACACATATATATGTATATTCCATATATA TACACATATATATGTATATTCCATATATATACACATATATATGTATATTC CATATATATACACATATATATGTATATTCCATATATATACACATATATAT GTATATTCCATATATATACACATATATATGTATATTCCATATATATACAC ATATATATGTATATTCCATATATATACACA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	5/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15529638	A A	ATATAGTA others(399): Show ATATAGTATATATATTCTATATACAGAATATATATAGTATATATATTCTA TATACAGAATATATATACTATATATATTCTATATACAGAATATATATACT ATATATATTCTGTATACAGAATATATATACTATATATATTCTATAGTATA TATATTCTGTATACAGAATATATATAGTATATATATTCTGTATACAGAAT ATATATACTATATATATTCTGTATACAGAATATATATACTATATATATTC TGTATATAGAATATATATATAGTATATATATTCTGTATATAGAATATATA TAGTATATATATTCTGTATATAGAATATATATAGTATATATATTCTGTAT ATAGAATATATATAGTATATATATTCTGTATATAGAATATATATACTATA TTAATTC	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	57	0.0175	406	c.409 others(425): Show c.409+15133_409+15134insGAATTAATATAGTATATATATTCTAT ATACAGAATATATATACTATATATATTCTATATACAGAATATATATACTA TATATATTCTATATACAGAATATATATACTATATATATTCTATATACAGA ATATATATACTATATATATATTCTATATACAGAATATATATAGTATATAT ATTCTGTATACAGAATATATATAGTATATATATTCTGTATACAGAATATA TATACTATATATATTCTGTATACAGAATATATATACTATAGAATATATAT AGTATATATATTCTGTATACAGAATATATATAGTATATATATTCTGTATA TAGAATATATATAGTATATATATTCTGTATATAGAATATATATACTATAT ATATTCTGTATATAGAATATATATACTATA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
ANKLE2_chr12_132720503_132766832	132729596	A A	AAGGGGAG others(399): Show AAGGGGAGGGGGAGGTGAGGGGAGGGGGAGGAGGAGGTGAGGGGAGTGGA AGGGTGGGAGGGGAGGGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGG ACGGGTGGGAGGGGGAGGGGGAGGGGAGGGTGGGAGGGGGAGGGGAGGGG AAGGTGAGGGGAGGGGGAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGGG GGAGGGGGAGGGGAGGGGAGTCGACGAGTGGGAGGGGAGGGGAAGGTGAG GGGAGGGGGAGGTGAGGGGAGGGGGGGTGGGAGGGGAGGGGGAGGGGAGG GGAAGGTGAGAGAAGGGGGAGGGGAAGGCGAGGGGAAGGCGAGGGGAGGG GGAGGGGAAGGCGAGGGGAGGGGGAGGGGAAGGCGAGGGGAGGGGGAGGG GGAGGCG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0315 a0001c0001t0011g0315	1	226	0.0044	406	c.248 others(421): Show c.2483+82_2483+83insCGCCTCCCCCTCCCCCTCCCCTCGCCTTCC CCTCCCCCTCCCCTCGCCTTCCCCTCCCCCTCCCCTCGCCTTCCCCTCGC CTTCCCCTCCCCCTTCTCTCACCTTCCCCTCCCCTCCCCCTCCCCTCCCA CCCCCCCTCCCCTCACCTCCCCCTCCCCTCACCTTCCCCTCCCCTCCCAC TCGTCGACTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCACCCATCCACT CCCCTCTCCTCCCCCTCCCCTCACCTTCCCCTCCCCTCCCCCTCCCACCC TCCCCTCCCCCTCCCCCTCCCACCCGTCCACTCCCCTCACCTCCCCCTCC CCTCACCTCCCCCTCCCCTCCCACCCTTCCACTCCCCTCACCTCCTCCTC CCCCTCCCCTCACCTCCCCCTCCCCT	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar
ASAP2_chr2_9201812_9410678	9305458	T T	TAGAGGCT others(399): Show TAGAGGCTGTAGTAGTGGGGTATAGATATTGGTGGAGAGGCTGTAGTAGT GGGGTATAGATATTGGTGGAGAGGCTGTAGTAGTGGGGTATAGATATTGG TGGAGAGGCTGTAGTAGTGGGGTATAGATATTGGTGGAGAGGCTGTAGTG GTGGGGTATAGATAATTGGTGGAGGGGCTGTAATAGTGGGGTATAGATAT TGGTGGAGAGGCTGTAGTAGTGGGGTATAGATATTGGTGGAGGGGCTGGA GTAGTGAGGTATAGATATTGGAGGGTCTGGAGTAGTGAGGTATAGATATT GGTTGACAGGCTGGAGTAGTGGCGTATACATATTGGTGGAGGGGCTGTAA TAGTGGGGTATAGATGTTGGTGTAGAGGCTGTAGTAGTGGGGTATAGATA TTGGTGG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG03130.hp1 HG03471.hp1 others(1): Show HG01074.hp2 HG03130.hp1 HG03471.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0005 a0001c0004 a0002c0005	a0001c0004t0005 a0002c0005t0001 a0001c0004t0005 a0002c0005t0001	a0001c0004t0005g0021 a0001c0004t0005g0034 a0001c0004t0005g0144 others(1): Show a0001c0004t0005g0021 a0001c0004t0005g0034 a0001c0004t0005g0144 a0002c0005t0001g0054	4	107	0.0374	406	c.345 others(423): Show c.345+8083_345+8084insAGGCTGTAGTAGTGGGGTATAGATATTG GTGGAGAGGCTGTAGTAGTGGGGTATAGATATTGGTGGAGAGGCTGTAGT GGTGGGGTATAGATAATTGGTGGAGGGGCTGTAATAGTGGGGTATAGATA TTGGTGGAGAGGCTGTAGTAGTGGGGTATAGATATTGGTGGAGGGGCTGG AGTAGTGAGGTATAGATATTGGAGGGTCTGGAGTAGTGAGGTATAGATAT TGGTTGACAGGCTGGAGTAGTGGCGTATACATATTGGTGGAGGGGCTGTA ATAGTGGGGTATAGATGTTGGTGTAGAGGCTGTAGTAGTGGGGTATAGAT ATTGGTGGAGAGGCTGTAGTAGTGGGGTATAGATATTGGTGGAGAGGCTG TAGTAGTGGGGTATAGATATTGGTGGAG	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9305458	T T	TAGAGGCT others(399): Show TAGAGGCTGTAGTAGTGGGGTATAGATATTGGTGGAGAGGCTGTAGTAGT GGGGTATAGATATTGGTGGAGAGGCTGTAGTAGTGGGGTATAGATATTGG TGGAGAGGCTGTAGTAGTGGGGTATAGATATTGGTGGAGAGGCTGTAGTG GTGGGGTATAGATAATTGGTGGAGGGGCTGTAATAGTGGGGTATAGATAT TGGTGGAGAGGCTGTAGTAGTGGGGTATAGATATTGGTGGAGGGGCTGGA GTAGTGAGGTATAGATATTGGAGGGTCTGGAGTAGTGAGGTATAGATATT GGTTGACAGGCTGGAGTAGTGGGGTATACATATTGGTGGAGGGGCTGTAA TAGTGGGGTATAGATGTTGGTGTAGAGGCTGTAGTAGTGGGGTATAGATA TTGGTGG	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02976.hp2 HG02080.hp2 HG02976.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0001 a0001c0004 a0002c0001	a0001c0004t0005 a0002c0001t0001 a0001c0004t0005 a0002c0001t0001	a0001c0004t0005g0185 a0002c0001t0001g0118 a0001c0004t0005g0185 a0002c0001t0001g0118	2	105	0.0190	406	c.345 others(423): Show c.345+8083_345+8084insAGGCTGTAGTAGTGGGGTATAGATATTG GTGGAGAGGCTGTAGTAGTGGGGTATAGATATTGGTGGAGAGGCTGTAGT GGTGGGGTATAGATAATTGGTGGAGGGGCTGTAATAGTGGGGTATAGATA TTGGTGGAGAGGCTGTAGTAGTGGGGTATAGATATTGGTGGAGGGGCTGG AGTAGTGAGGTATAGATATTGGAGGGTCTGGAGTAGTGAGGTATAGATAT TGGTTGACAGGCTGGAGTAGTGGGGTATACATATTGGTGGAGGGGCTGTA ATAGTGGGGTATAGATGTTGGTGTAGAGGCTGTAGTAGTGGGGTATAGAT ATTGGTGGAGAGGCTGTAGTAGTGGGGTATAGATATTGGTGGAGAGGCTG TAGTAGTGGGGTATAGATATTGGTGGAG	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATG2B_chr14_96274195_96368341	96340148	A A	AATATATA others(399): Show AATATATATATCATATATGATATATATGAATATATATATCATATATGATA TATATGAATATATATATCATATATGATATATATGAATATATATATCATAT ATGATATATATGAATATATATATCATATATGATATATATGAATATATATA TCATATATGATATATATATGAATATATATCATATATGATATATATGATAT ATATATCATATATTATATATGATATATATATCATATATGATATATATGAA TATATATATCATATATGATATATATGAATATATATATCATATATGATATA TATGAATATATATATCATATATGATATATATATTCATATATATCATATAT GATATATATATTCATATATATCATATATGATATATATGAATATATATATC ATATATG	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0148 a0002c0001t0002g0148	1	268	0.0037	406	c.924 others(423): Show c.924+1373_924+1374insCATATATGATATATATATTCATATATAT CATATATGATATATATGAATATATATATCATATATGATATATATGAATAT ATATATCATATATGATATATATATTCATATATATCATATATGATATATAT ATTCATATATATCATATATGATATATATATTCATATATATCATATATGAT ATATATATCATATATAATATATGATATATATATCATATATATCATATATG ATATATATTCATATATATATCATATATGATATATATATTCATATATATCA TATATGATATATATATTCATATATATCATATATGATATATATATTCATAT ATATCATATATGATATATATATTCATATATATCATATATGATATATATAT TCATATATATCATATATGATATATATAT	ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	6/41			chr14	TogoVar
ATG2B_chr14_96274195_96368341	96340148	A A	AATATATA others(399): Show AATATATATATCATATATGATATATATGAATATATATATCATATATGATA TATATGAATATATATATCATATATGATATATATGAATATATATATCATAT ATGATATATATGAATATATATATCATATATGATATATATGAATATATATA TCATATATGATATATATATTCATATATATCATATATGATATATATGATAT ATATATCATATATTATATATGATATATATATCATATATGATATATATGAA TATATATATCATATATGATATATATGAATATATATATCATATATGATATA TATGAATATATATATCATATATGATATATATGAATATATATATCATATAT GATATATATATTCATATATATCATATATGATATATATGAATATATATATC ATATATG	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0121 a0002c0001t0002g0121	1	268	0.0037	406	c.924 others(423): Show c.924+1373_924+1374insCATATATGATATATATATTCATATATAT CATATATGATATATATGAATATATATATCATATATGATATATATATTCAT ATATATCATATATGATATATATATTCATATATATCATATATGATATATAT ATTCATATATATCATATATGATATATATATTCATATATATCATATATGAT ATATATATCATATATAATATATGATATATATATCATATATATCATATATG ATATATATGAATATATATATCATATATGATATATATATTCATATATATCA TATATGATATATATATTCATATATATCATATATGATATATATATTCATAT ATATCATATATGATATATATATTCATATATATCATATATGATATATATAT TCATATATATCATATATGATATATATAT	ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	6/41			chr14	TogoVar
ATG2B_chr14_96274195_96368341	96340148	A A	AATATATA others(399): Show AATATATATATCATATATGATATATATGAATATATATATCATATATGATA TATATGAATATATATATCATATATGATATATATGAATATATATATCATAT ATGATATATATGAATATATATATCATATATGATATATATGAATATATATA TCATATATGATATATATGAATATATATATCATATATGATATATATATTCA TATATATCATATATGATATATATGATATATATATCATATATTATATATGA TATATATATCATATATGATATATATGAATATATATATCATATATGATATA TATGAATATATATATCATATATGATATATATGAATATATATATCATATAT GATATATATATTCATATATATCATATATGATATATATGAATATATATATC ATATATG	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18974.hp1 NA19002.hp1 NA18959.hp1 NA18974.hp1 NA19002.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0004 a0002c0001t0002 a0002c0001t0004	a0002c0001t0002g0132 a0002c0001t0002g0229 a0002c0001t0004g0118 a0002c0001t0002g0132 a0002c0001t0002g0229 a0002c0001t0004g0118	3	270	0.0111	406	c.924 others(423): Show c.924+1373_924+1374insCATATATGATATATATATTCATATATAT CATATATGATATATATGAATATATATATCATATATGATATATATATTCAT ATATATCATATATGATATATATATTCATATATATCATATATGATATATAT ATTCATATATATCATATATGATATATATATCATATATAATATATGATATA TATATCATATATATCATATATGATATATATGAATATATATATCATATATG ATATATATATTCATATATATCATATATGATATATATATTCATATATATCA TATATGATATATATATTCATATATATCATATATGATATATATATTCATAT ATATCATATATGATATATATATTCATATATATCATATATGATATATATAT TCATATATATCATATATGATATATATAT	ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	6/41			chr14	TogoVar
AZU1_chr19_822837_837018	835508	G G	GTCCAGGC others(399): Show GTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC AGCCCCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCC TGGCAGAGCCAGCCCCGTCCGGGCCCCGACGCGTGCAGCCCCCACCCCGC AGCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	267	0.0037	406	c.36 others(417): Show c.3631_*3632insTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCAGCCCCCTGGCAGAGCCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCGGGCCCCGACGCGTG CAGCCCCCACCCCGCAGCCCCA	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3491		chr19	TogoVar
BRSK2_chr11_1384934_1467689	1435232	A A	AGCGGAGG others(399): Show AGCGGAGGAGGGGTGCCGGTGGATGTCTCAGCGGAGGAGGGGTGCCGGTG GGGGTCTCAGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGG TGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGG AGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGT CTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCG GTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAG GGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGG CGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGG GGTCTCG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0195 a0001c0001t0003g0195	1	149	0.0067	406	c.92- others(419): Show c.92-787_92-786insATGTCTCAGCGGAGGAGGGGTGCCGGTGGGGG TCTCAGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCC GGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGA GGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCG GCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGG GGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGT GCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGA GGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTC TCGGCGGAGGAGGGGTGCCGGTGG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
CAMKK2_chr12_121232692_121301709	121255266	A A	ATATATAT others(399): Show ATATATATAATTATATATATATAATTATATATTTTTATATATATAATTAT ATATATAATTTTATATATATATAATTATATATAATTATATATATATAATT ATATATATTATATATATAATTATATATATATATTATATATATAATTTTAT ATATATATAATTATATATATAATTTTATATATATAATTATATATATATAA AATTATATATATAATTTTATATATAAAATTATATATATAATTTTATATAT ATAATTATATATATAATTTTATATATATATAATTATATATATATAATTTT ATATATATAATTATATATATATAATTTTATATATATAATTATATATATAT AATTTTATATATATATAATTATATATAATTTTATATATATATAATTATAT ATATAAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01168.hp2 HG01258.hp1 HG01074.hp1 HG01168.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0233 a0001c0001t0002g0327 a0001c0001t0002g0103 a0001c0001t0002g0233 a0001c0001t0002g0327	3	261	0.0115	406	c.907 others(421): Show c.907+283_907+284insATTATATATATAATTATATATATATAAAAT TATATATAATTATATATATATAAAATTATATATATATAATTATATATATA AAATTATATATATATAATTATATATATAAAATTATATATATATAATTATA TATATATAAAATTATATATATAATTATATATATAAAATTATATATATAAT TTTATATATAAAATTATATATATAATTTTATATATATATAATTATATATA TAAAATTATATATATAATTATATATATATAAAATTATATATATAATATAT ATATATAATTATATATATAATATATATAATTATATATATATAATTATATA TAATTATATATATATAAAATTATATATATAATTATATATATAAAAATATA TAATTATATATATATAATTATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CASP8_chr2_201255536_201292709	201284695	G G	GGGGAGAG others(399): Show GGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAG ACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGG GGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGAGACAGGGA GAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGG GAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGA CGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGG GAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGA CGGGGAGAGGGAGAGGGAGACAGGGAGAGGGAGAGGGAGACGAGAGGGAG AGGGAGA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03041.hp1 HG03195.hp2 others(1): Show HG02886.hp1 HG03041.hp1 HG03195.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0004 a0001c0001t0010	a0001c0001t0004g0020 a0001c0001t0004g0073 a0001c0001t0010g0062 a0001c0001t0004g0020 a0001c0001t0004g0073 a0001c0001t0010g0062	4	223	0.0179	406	c.803 others(420): Show c.803-100_803-99insAGACGGGGAGAGGGAGAGGGAGAGGGAGACG GGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGA GAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGAGACAGGGAGAG GGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAG AGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGG GGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAG AGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGG GGAGAGGGAGAGGGAGACAGGGAGAGGGAGAGGGAGACGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGG	CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CASP8_chr2_201255536_201292709	201284695	G G	GGGGAGAG others(399): Show GGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAG ACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGG GGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGAGACAGGGA GAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGG GAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGA CGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGG GAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGA CGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGAGAGGGAG AGGGAGA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp2 HG02559.hp1 HG02258.hp2 HG02280.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0002 a0001c0001t0004g0020 a0001c0001t0004g0076 a0001c0001t0004g0002 a0001c0001t0004g0020 a0001c0001t0004g0076	3	222	0.0135	406	c.803 others(420): Show c.803-100_803-99insAGACGGGGAGAGGGAGAGGGAGAGGGAGACG GGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGA GAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGAGACAGGGAGAG GGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAG AGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGG GGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAG AGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGG GGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGG	CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CCDC183_chr9_136791338_136812741	136802876	G G	GGGGGCCC others(399): Show GGGGGCCCTCCAGGGCGGGCTCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCTGGGGCCCTCCAGGGCGGGCTCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0027 a0001c0009t0002g0027	1	376	0.0027	406	c.666 others(419): Show c.666+97_666+98insTCCAGGGCGGGCTCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCC TCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGG GCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCT CAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGG ATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCTCCAGGGCGGG CTCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCG GGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGA GCTCAGGGCCCAGGGCTGGGGCCC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC183_chr9_136791338_136812741	136803145	G G	GCCGGGGG others(399): Show GCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCC CAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGC CCAGGGC	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	218	0.0046	406	c.666 others(421): Show c.666+360_666+361insCGGGGGCCCTCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCC CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC6_chr10_59783747_59911556	59882522	G G	GGGGAGAA others(399): Show GGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGG AGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAA GGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAA AGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGA AAGCCGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGC GGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCAGGGGGA GAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGA AAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAA AGCCGGC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0140 a0001c0001t0019g0140	1	230	0.0043	406	c.303 others(425): Show c.303+23599_303+23600insGCCGGCTTTCCTTTCCTTCTCCCCCC GGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCC TTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTC CTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTC TCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCCCG GCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTT TCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCT TTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCC TTCTCCCCCCGGCTTTCCTTTCCTTCTCCC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CD247_chr1_167425640_167523529	167434947	C C	CTCCTCCA others(399): Show CTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCT TCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCC TCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTT CCTTCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTCC TCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCC TCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCT CCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTC CGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTC CAGCCCT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp2 HG00642.hp2 others(7): Show HG00438.hp1 HG00597.hp2 HG00642.hp2 HG00741.hp1 HG01192.hp1 HG02083.hp1 HG02165.hp2 NA18944.hp2 NA18959.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0076 a0001c0001t0003g0119 a0001c0001t0003g0124 others(7): Show a0001c0001t0003g0076 a0001c0001t0003g0119 a0001c0001t0003g0124 a0001c0001t0003g0130 a0001c0001t0003g0157 a0001c0001t0003g0163 a0001c0001t0003g0166 a0001c0001t0003g0268 a0001c0001t0003g0272 a0001c0001t0003g0341	10	186	0.0538	406	c.336 others(421): Show c.336+451_336+452insAGGGCTGGAGGAGGGCTCCGGAGGAAGGGC TGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTGGAGGAAGGGCT GGAGGAGGGCTCCGGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCC GGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTG GAGGAAGGGCTGGAGGAGGGCTCCGGAGGAGGGCTGGAGGAAGGGCTGGA GGAGGGCTCCGGAGGAAGGGCTGAAGGAAGGGCTGGAGGAGGGCTCCGGA GGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTGGAG GAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTGGAGGAAGGGCTGGAGG AGGGCTCCGGAGGAAGGGCTGGAGGA	CD247	ENSG00000198821.12	transcript	ENST00000362089.10	protein_coding	5/7			chr1	TogoVar
CD247_chr1_167425640_167523529	167435100	C C	TCAGCCCT others(399): Show TCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTCCTCC GGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCC AGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCA GCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGG AGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAG CCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGC CCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAG CCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCC CTTCCTC	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA19086.hp1 NA18967.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0033 a0001c0001t0003g0199 a0001c0001t0003g0033 a0001c0001t0003g0199	2	368	0.0054	406	c.336 others(421): Show c.336+299_336+300insAGGAAGGGCTGGAGGAGGGCTCCGGAGGAA GGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTGGAGGAAG GGCTGGAGGAGGGCTCCGGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGG CTCCGGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGG GCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTGGAGGAAGGG CTGGAGGAGGGCTCCGGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCT CCGGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGC TGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAGGGCTGGAGGAAGGGCTG GAGGAGGGCTCCGGAGGAAGGGCTGA	CD247	ENSG00000198821.12	transcript	ENST00000362089.10	protein_coding	5/7			chr1	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(399): Show CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCCCCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCC TCCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCT CTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCC CCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCT CCCCTCT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0244 a0001c0001t0003g0244	1	12	0.0833	406	c.-45 others(427): Show c.-455+14589_-455+14590insCTCCCCTCCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCTCCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCCCCTCCCCCTCCCCCCTCCCCT CTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTC TCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCC CCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCC CCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTC TCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CIP2A_chr3_108544864_108594438	108575549	T T	TGTGTGTA others(399): Show TGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATACACG TATATATACTCATATACATGTGTGTATATACACGTATATATACTCATATA CATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATACA CGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCATA TACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATA CACGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCA TATACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATA TACACGTATATATACTCATATACATGTGTGTATATACACGTATATATACT CATATAC	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18987.hp2 NA19090.hp1 NA18972.hp2 NA18987.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0238 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0238	3	365	0.0082	406	c.894 others(421): Show c.894+721_894+722insGTATATGAGTATATATACGTGTATATACAC ACATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTAT ATATACGTGTATATACACACATGTATATGAGTATATATACGTGTATATAC ACACATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGT ATATATACGTGTATATACACACATGTATATGAGTATATATACGTGTATAT ACACACATGTATATGAGTATATATACGTGTATATACACACATGTATATGA GTATATATACGTGTATATACACACATGTATATGAGTATATATACGTGTAT ATACACACATGTATATGAGTATATATACGTGTATATACACACATGTATAT GAGTATATATACGTGTATATACACAC	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar

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