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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
NOTCH1_chr9_136489433_136551048	136528393	G G	GGGGGGTG others(823): Show GGGGGGTGGGCAGGGACAGTGGGGGGGGATGGGCAGGGACGGTGCGGGGG GGATGGGCAGGGACGGTGAGGGGGGGATGGGCAGGGACGGTGAGGGGGGG ATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGGGGGGGATGGGC AGGGACAGTGAGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGAC AGTGGGGGGTGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGG ATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGATGGGCAGGG ACCGTGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTG GGGGGGATGGGCAAGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGGAT GGGCAGGGACAGTGAGGGGGATGGGCAAGGACAGTGGGGCGATGGGCAGG GACAGTGGGGGGGATGGGCAGGGACAGTGCGGGGGGGATGGGCAGGGACG GTGAGGGGGGGATGGGCAGGGACGGTGAGGGGGGGATGGGCAGGGACGGT GAGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGTG GGCAGGGACAGTGGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAG GGACAGTGAGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTG GGGGGCGATGGGCAGGGACAGTGGGGGGGGATGGGCAGGGACAGTGGGGG GGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGTGGG CAGGGACAGTGGGGGGTGGGCAGGGACAGTA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0318 a0001c0001t0034g0318	1	139	0.0072	830	c.141 others(847): Show c.141-4415_141-4414insTACTGTCCCTGCCCACCCCCCACTGTCC CTGCCCACCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCAT CCCCCCCCACTGTCCCTGCCCATCCCCCCCCACTGTCCCTGCCCATCGCC CCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCTCACTG TCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCCACTGTCCCT GCCCACCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCC CTCACCGTCCCTGCCCATCCCCCCCTCACCGTCCCTGCCCATCCCCCCCT CACCGTCCCTGCCCATCCCCCCCGCACTGTCCCTGCCCATCCCCCCCACT GTCCCTGCCCATCGCCCCACTGTCCTTGCCCATCCCCCTCACTGTCCCTG CCCATCCCCCCCACTGTCCCTGCCCACCCCCCACTGTCCTTGCCCATCCC CCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCAC GGTCCCTGCCCATCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCC CATCCCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCACCCCCC ACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCTCACTGTC CCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCTCACTGTCCCTGCC CATCCCCCCCTCACCGTCCCTGCCCATCCCCCCCTCACCGTCCCTGCCCA TCCCCCCCGCACCGTCCCTGCCCATCCCCCCCCACTGTCCCTGCCCACCC CC		NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33						chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535464	C C	CGGGGAGC others(823): Show CGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTCG GGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGG AGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGAGTGCAGGGTGGGTG GAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGG TGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGG TGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGG AGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGC AGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAA TGAGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGC AATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGG GCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGG GGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCA GGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCC CAGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCT CCCGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCC TCCCAGGAGCAATGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCC TCCCAGGGGCAATGGGTGCAGGGTGGGTGGG	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0227 a0001c0001t0007g0227	1	267	0.0037	830	c.140 others(847): Show c.140+8559_140+8560insCCCACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCTCCTG GGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCC GGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCC CTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGC CCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATT GCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCAT TGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCC ATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCAC TCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCAC CCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCC ACTCCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCC CCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCC CCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCC CTCCACCCACCCTGCACTCATTGCCCCTGGGAGGGATCCTGAGTGCTCCC CCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCC CCCCGACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCC CC		NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33						chr9	TogoVar
NPHP4_chr1_5857811_5997425	5977904	A A	AGAAGAGA others(823): Show AGAAGAGAGGGGAGGGGGGAGAAGGGAAGGGAGGGAAGGGGAGGGGGAAG GAGAAGGGAGGGGTGGGAAGGGGAGGGGAGGGGAGGGGAAGGGGGAGGGG AAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGGAGGGGGAGGGGAA GGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGA GGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGG GAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGAGGGGGAGGG GAGGAGGGGGAGGAAGGGGAGGGAGGAGGGGAGGAGGGGGAGGGAGGAGG GGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGA GGGGAGGAGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGAGGGGAGGAGG GGGAGGGGAGGAGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGGAGGGGA GGGGGAGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGAGGGGAGGAGGGG AGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGGAGGGGAGGAA AGGAAGGGAGGGAAGGGGAGGGGAGGAGTGGAGAGGAGGATGAGGGGAGG GGAGGGGAGGAGTGGAGAGGAGGGTAAGGGAAGGAAGCAGAGGAGGGAGG AGTGGAGAGGAGGGGAAGGGAGGGGAGGGGTGCGGGAGGGGAGGGGTGCG GGAGGGGAGGGTAAGGGAAGGGAGGGGAGGGTGGGGGAGGGGAGGGAAGA GGAGTGGAGAGGAGGAGAAGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0006 a0006	a0006c0026 a0006c0026	a0006c0026t0004 a0006c0026t0004	a0006c0026t0004g0205 a0006c0026t0004g0205	1	4	0.2500	830	c.279 others(845): Show c.279+365_279+366insCCCTCCCCTCCCTTCTCCTCCTCTCCACTC CTCTTCCCTCCCCTCCCCCACCCTCCCCTCCCTTCCCTTACCCTCCCCTC CCGCACCCCTCCCCTCCCGCACCCCTCCCCTCCCTTCCCCTCCTCTCCAC TCCTCCCTCCTCTGCTTCCTTCCCTTACCCTCCTCTCCACTCCTCCCCTC CCCTCCCCTCATCCTCCTCTCCACTCCTCCCCTCCCCTTCCCTCCCTTCC TTTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCC CTCCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCC CCCTCCTCCCCTCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CCCTCCTCCCTCCCCCTCCTCCCCTCCTCCCTCCCCTTCCTCCCCCTCCT CCCCTCCCCCTCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCT CCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCC CTTCCCCTCCCCCTCCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCT TCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCTTCCCACCCCTCCCTTCT CCTTCCCCCTCCCCTTCCCTCCCTTCCCTTCTCCCCCCTCCCCTCTCTTC		NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	3/29						chr1	TogoVar
OPCML_chr11_132409981_133537501	133082572	T T	TCCTCCTC others(823): Show TCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCC TCCTCATCCTCTCCTCCCCCTCGCACATCCCCCTTCCCCTCCTCCCCTCC TCATTCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCATCCTCTCC TCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCC CCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCC TCGCCCATCCCCCTTCCCCTCCTCTCCTCCTCATCCTCTCCTCCCCCTCG CCCATCCCCCTTCCCCTCCTCTCCTCCTCATCCTCTCCTCCCCCTCGCCC ATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCATC CCCCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCC CTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTT CCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCC CTCCTCCCCTCCTCATTCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTC CTCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTC ATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCATC CTCTCCTCCCCCTCGCCGATCCCCCTTCCCCTCCTCCCCTCCTCATCCTC TCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCTCC TCCCCCTCGCCCATCCCCCTTCCCCTCCTCC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0007 a0001c0001t0004g0007	1	31	0.0323	830	c.62- others(849): Show c.62-139563_62-139562insGGAGGAGGGGAAGGGGGATGGGCGAG GGGGAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGG GAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATCGGCGAGGGGGAG GAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAG AGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGG ATGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGAATGAGGAGGGG AGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAGGGGAGG AGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAGGGGAGGAGG GGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAGGGGAGGAGGGGA AGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAGGGGAGGAGGGGAAGG GGGATGGGCGAGGGGGAGGAGAGGATGAGGAGGAGAGGAGGGGAAGGGGG ATGGGCGAGGGGGAGGAGAGGATGAGGAGGAGAGGAGGGGAAGGGGGATG GGCGAGGGGGAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGC GAGGGGGAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAG GGGGAGGAGAGGATGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAG AATGAGGAGGGGAGGAGGGGAAGGGGGATGTGCGAGGGGGAGGAGAGGAT GAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAG GAGG		OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7						chr11	TogoVar
OPCML_chr11_132409981_133537501	133082572	T T	TCCTCCTC others(823): Show TCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCC TCCTCATCCTCTCCTCCCCCTCGCACATCCCCCTTCCCCTCCTCCCCTCC TCATTCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCATCCTCTCC TCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCC CCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCC TCGCCCATCCCCCTTCCCCTCCTCTCCTCCTCATCCTCTCCTCCCCCTCG CCCATCCCCCTTCCCCTCCTCTCCTCCTCATCCTCTCCTCCCCCTCGCCC ATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCATC CCCCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCC CTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTT CCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCC CTCCTCCCCTCCTCATTCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTC CTCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTC ATCCTCTCCTCCCCCTCGCCGATCCCCCTTCCCCTCCTCCCCTCCTCATC CTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCATCCTC TCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCTCC TCCCCCTCGCCCATCCCCCTTCCCCTCCTCC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0052 a0001c0001t0017g0052	1	31	0.0323	830	c.62- others(849): Show c.62-139563_62-139562insGGAGGAGGGGAAGGGGGATGGGCGAG GGGGAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGG GAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAG GAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATCGGCGAGGGGGAGGAG AGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGG ATGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGAATGAGGAGGGG AGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAGGGGAGG AGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAGGGGAGGAGG GGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAGGGGAGGAGGGGA AGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAGGGGAGGAGGGGAAGG GGGATGGGCGAGGGGGAGGAGAGGATGAGGAGGAGAGGAGGGGAAGGGGG ATGGGCGAGGGGGAGGAGAGGATGAGGAGGAGAGGAGGGGAAGGGGGATG GGCGAGGGGGAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGC GAGGGGGAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAG GGGGAGGAGAGGATGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAG AATGAGGAGGGGAGGAGGGGAAGGGGGATGTGCGAGGGGGAGGAGAGGAT GAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAG GAGG		OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7						chr11	TogoVar
OPRPN_chr4_70392940_70415195	70413191	A A	ATGTATAT others(823): Show ATGTATATATATGTGTGTATATATACATATATGTATATGTATATGTGTAT ATATGCATATATGTATATGTATATGTGTATATATGCATATATGTATATGC ATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATAT ACATATATATGTATATGCATATGTGTGTATATATACATATATATGTATAT GCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATAT ATACATATATATGTATATGCATATGTGTGTATATATACATATATATGTAT ATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTAT ATATACATATATATGTATATGCATATGTGTGTAAATATACATATATATGT ATATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGT ATATATACATATATATGTATATGCATATGTGTGTATATATACATATATAT GTATATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGT GTATATATACACATATACATATATATGCATATGTGTGTATATATACATAT ACATATATATGCATATATATGTATATATATACATATATATGCATATATGT GTATACATATACATATATATGCATATATGTGTATATATACACATATATAT GTGTGTGTATATATATGTGTGTGTATATATACACATATATATGTGTGTGT ATATATATGTGTGTGTATATATACACATATATATGTGTGTGTATATATAT GTGTGTGTATATATACACATATATATGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	135	0.0074	830	c.31 others(841): Show c.3116_*3117insTGTATATATATGTGTGTATATATACATATATGTA TATGTATATGTGTATATATGCATATATGTATATGTATATGTGTATATATG CATATATGTATATGCATATGTGTGTATATATACATATATATGTATATGCA TATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATATA CATATATATGTATATGCATATGTGTGTATATATACATATATATGTATATG CATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATA TACATATATATGTATATGCATATGTGTGTATATATACATATATATGTATA TGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTAAA TATACATATATATGTATATGCATATGTGTGTATATATACATATATATGTA TATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTA TATATACATATATATGTATATGCATATGTGTGTATATATACATATATATG TATATGCATATGTGTGTATATATACACATATACATATATATGCATATGTG TGTATATATACATATACATATATATGCATATATATGTATATATATACATA TATATGCATATATGTGTATACATATACATATATATGCATATATGTGTATA TATACACATATATATGTGTGTGTATATATATGTGTGTGTATATATACACA TATATATGTGTGTGTATATATATGTGTGTGTATATATACACATATATATG TGTGTGTATATATATGTGTGTGTATATATACACATATATATGTGTG		OPRPN	ENSG00000171199.11	transcript	ENST00000399575.7	protein_coding					2997		chr4	TogoVar
PAK2_chr3_196734857_196837647	196811271	T T	TTCCTTCC others(823): Show TTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTACCCTCCCTT CCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTACCCTCCCTT CCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCT TCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTACCCTCCTTC CCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTT CCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCTTCCCTCCCTTCCTTCCC TCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCC TTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTACCCTCCCTTCCC TCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCT TCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTC CCTTCCTTCCCTTCCTTCCTTCCTTCTTCCCTCCCTTCCTTCCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCTTCCCTCCCTCCCTT CCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCC TTCCTTCCTTCCTTCCTTCCCTCCCTTCCCTCCCTTCCTTCCTCCCTTCC TTCCTCCCTTCCTTCCCTTCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0162 a0001c0001t0022g0162	1	149	0.0067	830	c.773 others(845): Show c.773+621_773+622insTTCCTTCCTTCCTTCCCTCCCTTCCTTCCC TTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCC TTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCC TTCCCTACCCTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCTT CCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTC CCTACCCTCCCTTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCC CTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCTTCCCTCC CTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTC CTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCT TCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCCTCCC TTCCTTCCTCCCTTCCTTCCTCCCTTCCTTCCCTTCCTTCCCTTCCCTCC		PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14					INFO_REALIGN_3_PRIME	chr3	TogoVar
PDCD6_chr5_266646_319974	318220	C C	CCAGCCTC others(823): Show CCAGCCTCCACCTCCCCCCTCACCCTCCACCTCCCCCCCGCACCCTGCAC CTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCT CCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCC CTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCC TCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCT CCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCAC CTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCACCCT GCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCC ATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCC CAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTC CCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTG CACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCC TGCACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCA CCCTCCACCTCCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCT CTCCCCATCTTTTACCTCCCCCCACCCTCCATCTCCCCCAACCCTGCACC TCCCCCATCCTTCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTG CACCTCCCCCTCCCCCTGCACCTCCCGCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0055 a0001c0002t0001g0055	1	342	0.0029	830	c.37 others(841): Show c.3705_*3706insCAGCCTCCACCTCCCCCCTCACCCTCCACCTCCC CCCCGCACCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTT ACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCT TCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCA CCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCC CCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCT CCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCA CCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCAC CCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCA ACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCC CTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCT CCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCC ATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCCCT TCATCTCCCCCCTCACCCTCCACCTCCCCCCCGCACCCTGCACCTCCCAC CCTTACCCTGCACCTCTCCCCATCTTTTACCTCCCCCCACCCTCCATCTC CCCCAACCCTGCACCTCCCCCATCCTTCACCTCCCCCACTCACCCTCCAC CTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCT		PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding					3247		chr5	TogoVar
PRDM16_chr1_3064203_3443621	3260742	A A	ATGATGGT others(823): Show ATGATGGTGATGATAATGATAGTGATGGTGATGATGATGGTGGTGGTGAT GGTGATGGTGATGGTGGTGGTGATGATGGTGATGGTGATGATGGTGGTGG TGATGATGGTGGTGGTGATGATGGTGATGGTGATGATGGTGATGGTGGTG ATGATGGTGGTGGTGATGATGGTGATGGTGATGATGGTGGTGGTGATGGT GGTGGTGATGATGGTGATGGTGATGATGATGGTGGTGGTGATGATGGTGG TGGTGATGATGGTGATGGTGGTGATGGTGATGGTGGTGATGATGGTGATG GTGATAATGATAGTGGTGATGATGGTGATGGTGGTGATGATGGTGATAAT GATAGTGGTGATGGTGGTGATGATGGTGATGGTGATGATGGTGATGGTGG TGGTGATGGTGGTGATGATGGTGATGGTGATGATGATGGTGATGGTGGTG ATGATGGTGATGGTGATGATGATGGTGATGGTGGTGGTGGTGATGGTGAT GATAATGATAGTGGTGATGATGGTGATGGTGATGATGGTGTTGGTGATGG TGATGGTGGTGGTGGTGATGGTGGTGGTGATGATGGTGATGGTGAAGGTG TTGATGGTGATGGTGGTGGTGATGATGATGGTGGTGATGATGGTGATGGT GGTGATGATGATGGTGATGATGGTGATGGTGATGGTGATGATAGTGGTGA TGATGGTGATGATGATAGTGATGATGATGGTGATGATGGTGATGGCGGCG ATGATGGTGATGATGATGGTGATGGTTGTGATGATGTTGGTGATGGTGGT GATGATGATGGCATGATGGCAGTGATTCAAG	intron_variant intron_variant	MODIFIER	HG01517.hp1 NA18612.hp1 NA19085.hp1 HG01517.hp1 NA18612.hp1 NA19085.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0018 a0001c0002t0001 a0003c0005t0009 a0001c0001t0018 a0001c0002t0001 a0003c0005t0009	a0001c0001t0018g0164 a0001c0002t0001g0114 a0003c0005t0009g0010 a0001c0001t0018g0164 a0001c0002t0001g0114 a0003c0005t0009g0010	3	72	0.0417	830	c.438 others(849): Show c.438+16610_438+16611insGTGATGATAATGATAGTGATGGTGAT GATGATGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTGATGATGGTGA TGGTGATGATGGTGGTGGTGATGATGGTGGTGGTGATGATGGTGATGGTG ATGATGGTGATGGTGGTGATGATGGTGGTGGTGATGATGGTGATGGTGAT GATGGTGGTGGTGATGGTGGTGGTGATGATGGTGATGGTGATGATGATGG TGGTGGTGATGATGGTGGTGGTGATGATGGTGATGGTGGTGATGGTGATG GTGGTGATGATGGTGATGGTGATAATGATAGTGGTGATGATGGTGATGGT GGTGATGATGGTGATAATGATAGTGGTGATGGTGGTGATGATGGTGATGG TGATGATGGTGATGGTGGTGGTGATGGTGGTGATGATGGTGATGGTGATG ATGATGGTGATGGTGGTGATGATGGTGATGGTGATGATGATGGTGATGGT GGTGGTGGTGATGGTGATGATAATGATAGTGGTGATGATGGTGATGGTGA TGATGGTGTTGGTGATGGTGATGGTGGTGGTGGTGATGGTGGTGGTGATG ATGGTGATGGTGAAGGTGTTGATGGTGATGGTGGTGGTGATGATGATGGT GGTGATGATGGTGATGGTGGTGATGATGATGGTGATGATGGTGATGGTGA TGGTGATGATAGTGGTGATGATGGTGATGATGATAGTGATGATGATGGTG ATGATGGTGATGGCGGCGATGATGGTGATGATGATGGTGATGGTTGTGAT GATGTTGGTGATGGTGGTGATGATGATGGCATGATGGCAGTGATTCAAGT GATG		PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
RAB3C_chr5_58578075_58864394	58597333	T T	TATGTAAT others(823): Show TATGTAATACACAATATATATTATATAATATGTAATACACAATATATATT ATATAATATGTAATACACAATATATATTATATAATATGTAATACACAATA TATATTATATAATATGTAATACACAATATATATTATATAATATGTAATAC ACAATATATATTATATAATATGTAATACACAATATATATTATATAATATG TAATACACAATATATATTATATAATATGTAATACACAATATATATTATAT AATATGTAATACACAATATATATTATATAATAATATGTAATACACAATAT ATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATA CACAATATATTATATAATATGTAATACACAATATATTATATAATAATATG TAATACACAATATATTATATAATAATATGTAATACACAATATATTATATA ATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATAT ATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATA CACAATATATTATATAATAATATGTAATACACAATATATTATATAATAAT ATGTAATACACAATATATTATATAATAATATGTAATACACAATATATTAT ATAATAATATGTAATACACAATATATTATATAATAATATGTAATACACAA TATATTATATAATAATATGTAATACATTATACATTATTATATAAGTATAT GTAATACATTATACATTATTATATAAGTATATGTAATATATATTATACAT TATTATATAAATATATGTAATATATATTATA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0007 a0001c0001t0060g0007	1	19	0.0526	830	c.24+ others(847): Show c.24+14101_24+14102insATGTAATACACAATATATATTATATAAT ATGTAATACACAATATATATTATATAATATGTAATACACAATATATATTA TATAATATGTAATACACAATATATATTATATAATATGTAATACACAATAT ATATTATATAATATGTAATACACAATATATATTATATAATATGTAATACA CAATATATATTATATAATATGTAATACACAATATATATTATATAATATGT AATACACAATATATATTATATAATATGTAATACACAATATATATTATATA ATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATAT ATTATATAATAATATGTAATACACAATATATTATATAATATGTAATACAC AATATATTATATAATAATATGTAATACACAATATATTATATAATAATATG TAATACACAATATATTATATAATAATATGTAATACACAATATATTATATA ATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATAT ATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATA CACAATATATTATATAATAATATGTAATACACAATATATTATATAATAAT ATGTAATACACAATATATTATATAATAATATGTAATACACAATATATTAT ATAATAATATGTAATACACAATATATTATATAATAATATGTAATACATTA TACATTATTATATAAGTATATGTAATACATTATACATTATTATATAAGTA TATGTAATATATATTATACATTATTATATAAATATATGTAATATATATTA TA		RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4						chr5	TogoVar
RPA3_chr7_7631518_7723607	7679098	C C	CATATATT others(823): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAG TTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATAT TTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTAT ATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATAT TTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATAT ATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAA ATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTATAA ATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTATAA ATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAA ATACATATTTACATATTTAGTTTATAAATACATATTTATATATTTAGTTT ATAAATACATATTTATATATTTAGTTTATAAATATATATTTATATATTTA GTTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATA GATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATAT ATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAAT ATATATTTATATATTTAGTTTATAGATAAAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0044 a0001c0001t0004g0044	1	27	0.0370	830	c.-75 others(849): Show c.-758+6731_-758+6732insATTTATCTATAAACTAAATATATAAA TATATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAAC TAAATATATAAATATATATTTATCTATAAATTAAATATATAAATATATAT TTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAATAT ATAAATATATATTTATCTATAAATTAAATATATAAATATATATTTATCTA TAAACTAAATATATAAATATATATTTATAAACTAAATATATAAATATGTA TTTATAAACTAAATATATAAATATGTATTTATAAACTAAATATGTAAATA TGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATATGTA AATATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATAAATA TATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAAATA TATATTTATAAACTAAATATATAAATATATATTTATAAACTAAATATATA AATATATATTTATAAACTAAATATATAAATATATATTTATAAACTAAATA TATAAATATATGTTTATAAACTAAATATATAAATATATGTTTATAAACTA AATATATAAATATATGTTTATAAACTAAATATATAAATATATGTTTATAA ACTAAATATATAAATATATGTTTATAAACTAAATATATAAATATATGTTT ATAAACTAAATATATAAATATATGTTTATAAACTAAATATATAAATATAT GTTTATAAACTAAATATATAAATATATGTTTATAAACTAAATATATAAAT ATAT		RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7						chr7	TogoVar
SMIM36_chr17_55444856_55516452	55501118	C C	CATATTTT others(823): Show CATATTTTATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTATATATTATAATATATAATATATTATATATTATAATATATAA TATATTATATTTTATAATATATAATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATATTATATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTACATATTATAATATATAATATATATTATATATTATAATATAT AATATATATTACATATTATAATATATAATATATTATATTTTATAATATAT ATAAAATATAATATATTATATTTTATAAAATATAATATATTATATTTTAT AATATATAATATATTATATTTTATAATATATAATATATTATATATTATAA AATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATATTTTATAATATATAATA TATTATATTTTATATTATATAATATATTATATTTTATAATATATAATATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATTTTATAATATATAATATATTAT ATTTTATAATATATAATATATTATATTTTATATATATTATAAAATATAAT ATATTATATTTTATAATATATAATATATCTT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	7	0.1429	830	c.17 others(849): Show c.174+9760_*174+9761insAAGATATATTATATATTATAAAATAT AATATATTATATTTTATAATATATATAAAATATAATATATTATATATTAT AAAATATAATATATTATATATTATAAAATATAATATATTATATATTATAA AATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATATTATATAATATAAAATA TAATATATTATATATTATAAAATATATTATATTTTATAATATATAATATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATATTATAAAATATAATATATTAT ATATTATAAAATATAATATATTATATTTTATAAAATATAATATATTATAT TTTATATATATTATAAAATATAATATATTATATATTATAATATGTAATAT ATATTATATATTATAATATATAATATATATTATATATTATAATATGTAAT ATATATTATATATTATAATATATAATATATATTATATATTATAATATATA ATATATATTATATATTATAAAATATAATATATATTACATATTATAAAATA TAATATATTATATATTATAAAATATAATATATATTACATATTATAAAATA TAATATATTATATATTATAAAATATAATATATTATATATTATAAAATATA ATATATTATATATTATAATATATAATATATTATATATTATAATATATAAT ATATATTATATATTATAATATATAATATATATTATATATTATAATATAAA ATAT		SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4						chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501118	C C	CATATTTT others(823): Show CATATTTTATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTATATATTATAATATATAATATATTATATATTATAATATATAA TATATTATATTTTATAATATATAATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATATTATATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTACATATTATAATATATAATATATATTATATATTATAATATAT AATATATATTACATATTATAATATATAATATATTATATTTTATAATATAT ATAAAATATAATATATTATATTTTATAAAATATAATATATTATATTTTAT AATATATAATATATTATATTTTATAATATATAATATATTATATTTTATAA TATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATATTATATATTATAAAATA TAATATATTTTATAATATATAATATATTATATTTTATATTATATAAGATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATTTTATAATATATAATATATTAT ATTTTATAATATATAATATATTATATTTTATATATATTATAAAATATAAT ATATTATATTTTATAATATATAATATATCTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	7	0.1429	830	c.17 others(849): Show c.174+9760_*174+9761insAAGATATATTATATATTATAAAATAT AATATATTATATTTTATAATATATATAAAATATAATATATTATATATTAT AAAATATAATATATTATATATTATAAAATATAATATATTATATATTATAA AATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATCTTATATAATATAAAATATAATATATTATATATTATAAAATA TATTATATTTTATAATATATAATATATTATATTTTATAATATATAATATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATATTATAAAATATAATATATTATATATTATAAAATATAATATATTAT ATATTATAAAATATAATATATTATATTTTATAAAATATAATATATTATAT TTTATATATATTATAAAATATAATATATTATATATTATAATATGTAATAT ATATTATATATTATAATATATAATATATATTATATATTATAATATGTAAT ATATATTATATATTATAATATATAATATATATTATATATTATAATATATA ATATATATTATATATTATAAAATATAATATATATTACATATTATAAAATA TAATATATTATATATTATAAAATATAATATATATTACATATTATAAAATA TAATATATTATATATTATAAAATATAATATATTATATATTATAAAATATA ATATATTATATATTATAATATATAATATATTATATATTATAATATATAAT ATATATTATATATTATAATATATAATATATATTATATATTATAATATAAA ATAT		SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4						chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501118	C C	CATATTTT others(823): Show CATATTTTATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTATATATTATAATATATAATATATTATATATTATAATATATAA TATATTATATTTTATAATATATAATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATATTATATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTACATATTATAATATATAATATATATTATATATTATAATATAT AATATATATTACATATTATAATATATAATATATTATATTTTATAATATAT ATAAAATATAATATATTATATTTTATAAAATATAATATATTATATTTTAT AATATATAATATATTATATTTTATAATATATAATATATTATATTTTATAA TATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATATTTTATAATATATAATA TATTATATTTTATATTATATAAGATATTATATTTTATAATATATAATATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATTTTATAATATATAATATATTAT ATTTTATAATATATAATATATTATATTTTATATATATTATAAAATATAAT ATATTATATTTTATAATATATAATATATCTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG03927.hp1 HG04204.hp1 HG01358.hp1 HG03927.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0133 a0001c0001t0001g0145 a0001c0001t0005g0084 a0001c0001t0001g0133 a0001c0001t0001g0145 a0001c0001t0005g0084	3	9	0.3333	830	c.17 others(849): Show c.174+9760_*174+9761insAAGATATATTATATATTATAAAATAT AATATATTATATTTTATAATATATATAAAATATAATATATTATATATTAT AAAATATAATATATTATATATTATAAAATATAATATATTATATATTATAA AATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATCTTATATAATATAAAATA TAATATATTATATATTATAAAATATATTATATTTTATAATATATAATATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATATTATAAAATATAATATATTATATATTATAAAATATAATATATTAT ATATTATAAAATATAATATATTATATTTTATAAAATATAATATATTATAT TTTATATATATTATAAAATATAATATATTATATATTATAATATGTAATAT ATATTATATATTATAATATATAATATATATTATATATTATAATATGTAAT ATATATTATATATTATAATATATAATATATATTATATATTATAATATATA ATATATATTATATATTATAAAATATAATATATATTACATATTATAAAATA TAATATATTATATATTATAAAATATAATATATATTACATATTATAAAATA TAATATATTATATATTATAAAATATAATATATTATATATTATAAAATATA ATATATTATATATTATAATATATAATATATTATATATTATAATATATAAT ATATATTATATATTATAATATATAATATATATTATATATTATAATATAAA ATAT		SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4						chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501118	C C	CATATTTT others(823): Show CATATTTTATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTATATATTATAATATATAATATATTATATATTATAATATATAA TATATTATATTTTATAATATATAATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATATTATATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTACATATTATAATATATAATATATATTATATATTATAATATAT AATATATATTACATATTATAATATATAATATATTATATTTTATAATATAT ATAAAATATAATATATTATATTTTATAAAATATAATATATTATATTTTAT AATATATAATATATTATATTTTATAATATATAATATATTATATTTTATAA TATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATATTTTATAATATATAATA TATTATATTTTATATTATATAAGATATTATATTTTATAATATATAATATA TTATATTTTATAATATATAATATATTATATTTTATAATATTAATATATTA TATATTTATAATATATAATATATTATATTTTATAATATATAATATATTAT ATTTTATAATATATAATATATTATATTTTATATATATTATAAAATATAAT ATATTATATTTTATAATATATAATATATCTT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0135 a0001c0001t0005g0135	1	7	0.1429	830	c.17 others(849): Show c.174+9760_*174+9761insAAGATATATTATATATTATAAAATAT AATATATTATATTTTATAATATATATAAAATATAATATATTATATATTAT AAAATATAATATATTATATATTATAAAATATAATATATTATATATTATAA ATATATAATATATTAATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATCTTATATAATATAAAATA TAATATATTATATATTATAAAATATATTATATTTTATAATATATAATATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATATTATAAAATATAATATATTATATATTATAAAATATAATATATTAT ATATTATAAAATATAATATATTATATTTTATAAAATATAATATATTATAT TTTATATATATTATAAAATATAATATATTATATATTATAATATGTAATAT ATATTATATATTATAATATATAATATATATTATATATTATAATATGTAAT ATATATTATATATTATAATATATAATATATATTATATATTATAATATATA ATATATATTATATATTATAAAATATAATATATATTACATATTATAAAATA TAATATATTATATATTATAAAATATAATATATATTACATATTATAAAATA TAATATATTATATATTATAAAATATAATATATTATATATTATAAAATATA ATATATTATATATTATAATATATAATATATTATATATTATAATATATAAT ATATATTATATATTATAATATATAATATATATTATATATTATAATATAAA ATAT		SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4						chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501118	C C	CATATTTT others(823): Show CATATTTTATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTATATATTATAATATATAATATATTATATATTATAATATATAA TATATTATATTTTATAATATATAATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATATTATATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTACATATTATAATATATAATATATATTATATATTATAATATAT AATATATATTACATATTATAATATATAATATATTATATTTTATAATATAT ATAAAATATAATATATTATATTTTATAAAATATAATATATTATATTTTAT AATATATAATATATTATATTTTATAATATATTATATATTATATTTTATAA TATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATATTATATATTATAAAATA TAATATATTTTATAATATATAATATATTATATTTTATATTATATAAGATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATTTTATAATATATAATATATTAT ATTTTATAATATATAATATATTATATTTTATATATATTATAAAATATAAT ATATTATATTTTATAATATATAATATATCTT	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	7	0.1429	830	c.17 others(849): Show c.174+9760_*174+9761insAAGATATATTATATATTATAAAATAT AATATATTATATTTTATAATATATATAAAATATAATATATTATATATTAT AAAATATAATATATTATATATTATAAAATATAATATATTATATATTATAA AATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATCTTATATAATATAAAATATAATATATTATATATTATAAAATA TATTATATTTTATAATATATAATATATTATATTTTATAATATATAATATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATATTATAAAATATAATATATAATATATTATAAAATATAATATATTAT ATATTATAAAATATAATATATTATATTTTATAAAATATAATATATTATAT TTTATATATATTATAAAATATAATATATTATATATTATAATATGTAATAT ATATTATATATTATAATATATAATATATATTATATATTATAATATGTAAT ATATATTATATATTATAATATATAATATATATTATATATTATAATATATA ATATATATTATATATTATAAAATATAATATATATTACATATTATAAAATA TAATATATTATATATTATAAAATATAATATATATTACATATTATAAAATA TAATATATTATATATTATAAAATATAATATATTATATATTATAAAATATA ATATATTATATATTATAATATATAATATATTATATATTATAATATATAAT ATATATTATATATTATAATATATAATATATATTATATATTATAATATAAA ATAT		SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4						chr17	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(823): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGA GGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGG GGGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGA GGAAAGGAAGGAGGGAGGAAAGGAAAGAGGGAGGGAGGGAGGAAAGGAAG GAGGGAGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGGGGGAGGAAAGGAA GGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGA AAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAA GGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGG AGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGAG GAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGG AGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAG GGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGG AGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGAAAGGAA GGAGGGAGGAAAGGAAGGAGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0093 a0001c0001t0093	a0001c0001t0093g0309 a0001c0001t0093g0309	1	3	0.3333	830	c.597 others(847): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTCCTTT CCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCC TCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCCTC CCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCT TTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCCCCTC CCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCT TCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTC CTTTCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCCCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCTCC CTCCTTCCTTTCCTCCCTCCCTCCCTCTTTCCTTTCCTCCCTCCTTCCTT TCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCC CCCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCT CCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCC CTCCTTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTTCCT CCCTCCCTCCCTCCTTCCTTTCCTTCCTCCCTCCCTCCCTCCTTTCCTCC CTCCCTCCCTCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTC TC		STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10						chr13	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(823): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAG GGAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGG AGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAA GGAGGGAGGGAGGGAGGAAAGGAAGGGAGGGAGGGAGGAGGGAGGAAAGG AGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGAAAAGGAGGGAG GGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGG AGGAAAGGAAGGAGGGAGGAAAGGAAAGAGGGAGGGAGGGAGGAAAGGAA GGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGGAGGGAGGAAGGAGGAG GGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGA AAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAG GGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGG AGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAG GGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGG AAGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAG GAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGG AAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAA GGAGGGAGGAAAGGAAGGAGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	3	0.3333	830	c.597 others(847): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCT TTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTC CTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCC TCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTC CCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCC TCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTC CTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCC TCCCTCCTCCTTCCTCCCTCCCCTCCCTCCTTTCCTCCCTCCTCCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCTTTCCTTTCCTCCCTCCTTCCTTT CCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCC TCCCTCCCTCCTTTTCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTC CCTCCTTTCCTCCCTCCTCCCTCCCTCCCTTCCTTTCCTCCCTCCCTCCC TCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTT CCTCCCTCCCTCCTTCCTTTCCTTCCTCCCTCCCTCCCTCCTTTCCTCCC TCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTCCTTTCCTC TC		STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10						chr13	TogoVar
STOML3_chr13_38960925_38995831	38988194	T T	TGATATTT others(823): Show TGATATTTTATATCATATATTTTATATAAAATATATGATATTTTATATCA TATATTTTATATCATATATTTTATATAAAATATATGATATTTTATATCAT ATATTTTATATATAATATATTATATTTTATATAAAATATATTATATTTTA TATAAAATATATTATATTTTATATAAATATATTATATTTTATATAAAATA TATTATATTTTATATCATATATTTTATATAAAATATATTATATTTTATAT CATATATTTTATATAAAATATATTATATTTTATATTCATATATTTTATAT AAATATTATATTATATCATATATTTTATATATAATATATATATTTTATAT CATAATTTTATATATAATATATTATATTTTATATCATATATTTTATATAT AATATATTATATTTTATATCATATATTTTATATATAATATATTATATTTT ATATCATATATTTTATATATAATATATTATATTTTATATCATATATTTTA TATATAATATATTATATTTTATATCATATATTTTATATATAATATATTAT ATTTTATATCATATATTTTATATATAATATATTATATTTTATATCATATA TTTTATATATAATATATTATATTTTATATCATATATTTTATATATAATAT ATTATATTTTATATCATATATTTTATATATAATATATTTTATATCATATA TTTTATATATAATATATTTTATATCATATATTTTATATATAATATATTAT ATTTTATATCATATATTTTATATATAATATATTATATTTTATATCATATA TTTTATATATAATATATTATATTTTATATCA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0251 a0001c0001t0002g0251	1	285	0.0035	830	c.52+ others(845): Show c.52+2475_52+2476insTGATATAAAATATAATATATTATATATAAA ATATATGATATAAAATATAATATATTATATATAAAATATATGATATAAAA TATAATATATTATATATAAAATATATGATATAAAATATATTATATATAAA ATATATGATATAAAATATATTATATATAAAATATATGATATAAAATATAA TATATTATATATAAAATATATGATATAAAATATAATATATTATATATAAA ATATATGATATAAAATATAATATATTATATATAAAATATATGATATAAAA TATAATATATTATATATAAAATATATGATATAAAATATAATATATTATAT ATAAAATATATGATATAAAATATAATATATTATATATAAAATATATGATA TAAAATATAATATATTATATATAAAATATATGATATAAAATATAATATAT TATATATAAAATATATGATATAAAATATAATATATTATATATAAAATTAT GATATAAAATATATATATTATATATAAAATATATGATATAATATAATATT TATATAAAATATATGAATATAAAATATAATATATTTTATATAAAATATAT GATATAAAATATAATATATTTTATATAAAATATATGATATAAAATATAAT ATATTTTATATAAAATATAATATATTTATATAAAATATAATATATTTTAT ATAAAATATAATATATTTTATATAAAATATAATATATTATATATAAAATA TATGATATAAAATATCATATATTTTATATAAAATATATGATATAAAATAT ATGATATAAAATATCATATATTTTATATAAAATATATGATATAAAATATC		STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6						chr13	TogoVar
TAFA5_chr22_48484553_48756932	48679098	T T	TGTCCATC others(823): Show TGTCCATCCCTCTCCCGGCTCTGCGTCCATCCCTCTCCCGGCTCCCTGTC CATCCCTCTCCCGGCTCCCCGTCCATCCCTCTCCTGGCTCCCCAGCTCCC CGTCCATCCCTCTCCCGGCTCCCTGTCCATCCCTCTCCCGGCTCCCCGTC CATCCCTCTCCTGGCTCCCCAGCTCCCCGTCCATCCCTCTCCCGGCTCCC CGTCCATCCCTCTCCCGGCTCCCCGTCCATCCCTCTCCGGGCTCCCCGTC CATCCCTCTCCCGGCTCCCCGTCCATCCCTCTCCCGGCTCCCCGTCCATC CCTCTCCGGGCTCCCCGTCCATCCCTCTCCGGGCTCCCCGTCCATCCCTC TCCGGGCTCGCCGTCCATCCCTCTCCGGGCTCGCCGTCCATCCCTCTCCG GGCTCCCCGTCCATCCCTCTCCGGGCTCCCCGTCCATCCCTCTCCGGGCT CCCCGTCCATCCCTCTCCCGGCTCCCCGTCCATCCCTCTCCGGGCTCCCC GTCCATCCCTCTCCCGGCTCCCCGTCCATCCCTCTCCGGGCTCCCCGTCC ATCCCTCTCCCGGCTCCCCGTCCATCCCTCTCCGGGCTCCCCGTCCATCC CTCTCCCGGCTCCCTGTCCATCCCTCTCCGGTCTCCCTGTCCATCCCTCT CCCGGCTCCCCGGCTCCCCAGCTCCCCAGCTCCCCGTCCATCCCTCTCCC AGCTCTGCGTCCATCCCTCTCCCGGCTCCCCGTCCATCCCTCTCCTGGCT CCCCAGCTCCCCGTCCATCCCTCTCCCGTCTCTCTGTCCATCCCTCTCCC GGCTCCGCGTCCATCCCTCTCCCGGCTCCCC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0195 a0001c0001t0002g0195	1	117	0.0085	830	c.263 others(849): Show c.263-28599_263-28598insTGCGTCCATCCCTCTCCCGGCTCCCT GTCCATCCCTCTCCCGGCTCCCCGTCCATCCCTCTCCTGGCTCCCCAGCT CCCCGTCCATCCCTCTCCCGGCTCCCTGTCCATCCCTCTCCCGGCTCCCC GTCCATCCCTCTCCTGGCTCCCCAGCTCCCCGTCCATCCCTCTCCCGGCT CCCCGTCCATCCCTCTCCCGGCTCCCCGTCCATCCCTCTCCGGGCTCCCC GTCCATCCCTCTCCCGGCTCCCCGTCCATCCCTCTCCCGGCTCCCCGTCC ATCCCTCTCCGGGCTCCCCGTCCATCCCTCTCCGGGCTCCCCGTCCATCC CTCTCCGGGCTCGCCGTCCATCCCTCTCCGGGCTCGCCGTCCATCCCTCT CCGGGCTCCCCGTCCATCCCTCTCCGGGCTCCCCGTCCATCCCTCTCCGG GCTCCCCGTCCATCCCTCTCCCGGCTCCCCGTCCATCCCTCTCCGGGCTC CCCGTCCATCCCTCTCCCGGCTCCCCGTCCATCCCTCTCCGGGCTCCCCG TCCATCCCTCTCCCGGCTCCCCGTCCATCCCTCTCCGGGCTCCCCGTCCA TCCCTCTCCCGGCTCCCTGTCCATCCCTCTCCGGTCTCCCTGTCCATCCC TCTCCCGGCTCCCCGGCTCCCCAGCTCCCCAGCTCCCCGTCCATCCCTCT CCCAGCTCTGCGTCCATCCCTCTCCCGGCTCCCCGTCCATCCCTCTCCTG GCTCCCCAGCTCCCCGTCCATCCCTCTCCCGTCTCTCTGTCCATCCCTCT CCCGGCTCCGCGTCCATCCCTCTCCCGGCTCCCCGTCCATCCCTCTCCCG GCTC		TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr22	TogoVar
TMPRSS9_chr19_2355265_2431261	2377604	T T	TCTCCCCT others(823): Show TCTCCCCTCCCCTCTCCCCCCCTCCTCTCTCCCCTCCCCTCTCCCCTCCC CTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTTCTCTCTCCTCCCCTCC TCTCTCTTCCCCTCTCCTCCCCTCTCTCCTCTCCTCCCCTCTCCTCCCCT CTCCCCTCTCCTCTCTCCTCCCACTCTCCCCTCCCCTCGCCCTTCCCCTC CCCTCGCCCTTCCCCTCTTCCCTCCCCTCTCCCCTCTCCCCTCTCCCCTC CCCTCCCATCTCCCCTCTCATCTCCCCTCTCCCCTCCTCTCCCCTTCCCT CCCGTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTC CCCTCTCCCCTTCCCTCCCCTCCCCTCCCCCTCCCCCTTCCCCCTCCCCT ACCCCTACCCCCCCTGCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTC CCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTTCCCT CCCCTCTCCCCTCCCCCTTCCCCCTCTCCTACCCCTCCCCCTTACCCTTC CCCTTCCCCCCCTCTGCCCTCCCCTATCCCCTCCTCTGCCCTCCCCTCTC CCCTCCCCTCCCCCCTCCCCTATCCCCTCTCCCCTCTCCCCTCTCCCCTC CCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCCTCCCCTCCCCTCCCACC	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	82	0.0122	830	c.-25 others(849): Show c.-25-12157_-25-12156insCTCCCCTCCCCTCTCCCCCCCTCCTC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCC TCCCCTTCTCTCTCCTCCCCTCCTCTCTCTTCCCCTCTCCTCCCCTCTCT CCTCTCCTCCCCTCTCCTCCCCTCTCCCCTCTCCTCTCTCCTCCCACTCT CCCCTCCCCTCGCCCTTCCCCTCCCCTCGCCCTTCCCCTCTTCCCTCCCC TCTCCCCTCTCCCCTCTCCCCTCCCCTCCCATCTCCCCTCTCATCTCCCC TCTCCCCTCCTCTCCCCTTCCCTCCCGTCCCCTCTCCCCTTCCCTCCCCT CCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTC CCCCTCCCCCTTCCCCCTCCCCTACCCCTACCCCCCCTGCCCTCCCCTCT CCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCC TCCCCTCTCCCCTCCCCTTCCCTCCCCTCTCCCCTCCCCCTTCCCCCTCT CCTACCCCTCCCCCTTACCCTTCCCCTTCCCCCCCTCTGCCCTCCCCTAT CCCCTCCTCTGCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTATCCCC TCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCC CCTCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCC CACC		TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18						chr19	TogoVar
UMAD1_chr7_7635752_7884223	7679098	C C	CATATATT others(823): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAG TTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATAT TTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTAT ATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATAT TTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATAT ATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAA ATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTATAA ATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTATAA ATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAA ATACATATTTACATATTTAGTTTATAAATACATATTTATATATTTAGTTT ATAAATACATATTTATATATTTAGTTTATAAATATATATTTATATATTTA GTTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATA GATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATAT ATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAAT ATATATTTATATATTTAGTTTATAGATAAAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0134 a0001c0001t0052g0134	1	24	0.0417	830	c.82+ others(845): Show c.82+5669_82+5670insAACATATATTTATATATTTAGTTTATAAAC ATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTAT AAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGT TTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATT TAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATA TATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATATT TATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATA TATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATA TATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATATT TACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACA TATTTACATATTTAGTTTATAAATACATATTTATATATTTAGTTTATAAA TACATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTA TAGATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTAT ATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAA ATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTA GTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA		UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
ATG2B_chr14_96274195_96368341	96340093	T T	TATATCAT others(824): Show TATATCATATATGATATATATGAATATATATATCATATATGATATATATG AATATATATATCATATATGATATATATGAATATATATATCATATATGATA TATATGAATATATATATCATATATGATATATATGAATATATATATCATAT ATGATATATATGAATATATATATCATATATGATATATATGAATATATATA TCATATATGATATATATGAATATATATATCATATATGATATATATGAATA TATATATCATATATGATATATATGAATATATATATCATATATGATATATA TGAATATATATATCATATATGATATATATGAATATATATATCATATATGA TATATATGAATATATATATCATATATGATATATATGAATATATATATCAT ATATGATATATATGAATATATATATCATATATGATATATATGAATATATA TATCATATATGATATATATGAATATATATATCATATATGATATATATGAA TATATATATCATATATGATATATATGAATATATATATCATATATGATATA TATGAATATATATATCATATATGATATATATGAATATATATATCATATAT GATATATATGAATATATATATCATATATGATATATATGAATATATATATC ATATATGATATATATGAATATATATATCATATATGATATATATGAATATA TATATCATATATGATATATATGAATATATATATCATATATGATATATATG AATATATATATCATATATGATATATATGAATATATATCATATATGATATA TATGAATATATATATCATATATGATATATATG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0046 a0001c0003t0046	a0001c0003t0046g0236 a0001c0003t0046g0236	1	354	0.0028	831	c.924 others(848): Show c.924+1428_924+1429insCATATATATCATATATGATATATATATT CATATATATCATATATGATATATATTCATATATATCATATATGATATATA TATTCATATATATCATATATGATATATATATTCATATATATCATATATGA TATATATATTCATATATATCATATATGATATATATATTCATATATATCAT ATATGATATATATATTCATATATATCATATATGATATATATATTCATATA TATCATATATGATATATATATTCATATATATCATATATGATATATATATT CATATATATCATATATGATATATATATTCATATATATCATATATGATATA TATATTCATATATATCATATATGATATATATATTCATATATATCATATAT GATATATATATTCATATATATCATATATGATATATATATTCATATATATC ATATATGATATATATATTCATATATATCATATATGATATATATATTCATA TATATCATATATGATATATATATTCATATATATCATATATGATATATATA TTCATATATATCATATATGATATATATATTCATATATATCATATATGATA TATATATTCATATATATCATATATGATATATATATTCATATATATCATAT ATGATATATATATTCATATATATCATATATGATATATATATTCATATATA TCATATATGATATATATATTCATATATATCATATATGATATATATATTCA TATATATCATATATGATATATATATTCATATATATCATATATGATATATA TATTCATATATATCATATATGATATATATATTCATATATATCATATATGA TAT		ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	6/41						chr14	TogoVar
ATG7_chr3_11267397_11562665	11487564	A A	AGACGGGG others(824): Show AGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTCCCTCTC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCA GGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACACCCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGGGT GGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCCGACACCCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGGGTG GGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGG GGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCT CCCAGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCT CCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0254 a0001c0001t0004g0254	1	94	0.0106	831	c.207 others(852): Show c.2079+60658_2079+60659insAGGGGGGCTGACCCCCCCCACCTC CCTCCCGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTCC CTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCT GGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACACCCCCCACCTCCCTCCCGGACGGGGCGGCAGGC CGGGTGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACACCCCCCACCTCCCTCCCGGACGGGGCGGCAGGCC GGGTGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGG GCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCT CACCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATC TCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTG GCCGGGC		ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20					INFO_REALIGN_3_PRIME	chr3	TogoVar
CCDC6_chr10_59783747_59911556	59882361	G G	GGAGAAGG others(824): Show GGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAG AAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAA AGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAA GCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCG GGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGCCGGCGGGA GAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAG GAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAA GGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAA AGCCGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGC GGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGAGAA GGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAA AGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGGA AAGCCAGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGC CGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGG GAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGA AGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGG AAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGC	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA19056.hp1 NA18952.hp1 NA19056.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0004 a0001c0003 a0002c0004	a0001c0003t0003 a0002c0004t0001 a0001c0003t0003 a0002c0004t0001	a0001c0003t0003g0078 a0002c0004t0001g0079 a0001c0003t0003g0078 a0002c0004t0001g0079	2	231	0.0087	831	c.303 others(850): Show c.303+23760_303+23761insGCCGGCTTTCCTTTCCTTCTCCCCCC GGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCC TTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTC CTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTC TCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCC TGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTCCTTCTCCCGCCGGC TTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTC CTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTT CTCCCCGCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCC CCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCCCGG CTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCCCGGCTTT CCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTT TCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTCCT TCTCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCC CCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCCCGGC TTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCT TTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCC TTCTC		CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8						chr10	TogoVar
CCDC6_chr10_59783747_59911556	59882452	G G	GGGAGAAG others(824): Show GGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGA GAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGA AAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAA AGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGG GGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGAG AAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGG AAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGA AAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGC CGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGCG GGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGAGA AGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGA AAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGG AAAGCCGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCC GGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGG GGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGAGAA GGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAA AGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0030 a0001c0003t0030	a0001c0003t0030g0286 a0001c0003t0030g0286	1	189	0.0053	831	c.303 others(850): Show c.303+23669_303+23670insGGCTTTCCTTTCCTTCTCCCCGCGGC TTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTC CTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCC TTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCT CCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCC GGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCGCGGCT TTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCC TTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCT TCTCCCCGCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTC CCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGC CGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTT TCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCT TTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTT CTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCG CCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCT TTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTT TCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCT TCTCC		CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8						chr10	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(824): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGA AGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAAATTG AAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATAAAAC ACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCTATGT AGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAATTGTG CAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGTACTT TGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATCCTAG AGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACATGAA GTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGGAGTT TCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGAATTA TACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATATGTA TGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATAAATT TAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACATCCAT ACTACATATATATATATATATATATATATATATATATATATATATATATA TATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTG AGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0187 a0001c0001t0002g0187	1	38	0.0263	831	c.248 others(848): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAA GGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAG ATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGA CAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAAT GGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGA GGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCC TTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACT TGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGAT GGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAAT TAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCAT AGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATT TTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGG GCAATACATCCATACTACATATATATATATATATATATATATATATATAT ATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGT TTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGAGTGCA GTG		CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(824): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TATATATATATATTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTG AGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0301 a0001c0001t0037g0301	1	38	0.0263	831	c.248 others(848): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTGGT TTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGAGTGCA GTG		CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(824): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TATATATATATTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTG AGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0152 a0001c0001t0022g0152	1	38	0.0263	831	c.248 others(848): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTGGT TTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGAGTGCA GTG		CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(824): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTG AGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0203 a0001c0001t0002g0203	1	38	0.0263	831	c.248 others(848): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGT TTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGAGTGCA GTG		CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(824): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTG AGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA18942.hp1 NA19063.hp1 HG00597.hp2 NA18942.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0060 a0001c0001t0002 a0001c0001t0060	a0001c0001t0002g0165 a0001c0001t0002g0209 a0001c0001t0060g0210 a0001c0001t0002g0165 a0001c0001t0002g0209 a0001c0001t0060g0210	3	40	0.0750	831	c.248 others(848): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGT TTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGAGTGCA GTG		CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(824): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTG AGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA18957.hp2 NA18980.hp1 others(2): Show HG02155.hp2 NA18957.hp2 NA18980.hp1 NA19074.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0023 a0001c0001t0002 a0001c0001t0004 a0001c0001t0023	a0001c0001t0002g0155 a0001c0001t0002g0220 a0001c0001t0002g0257 others(2): Show a0001c0001t0002g0155 a0001c0001t0002g0220 a0001c0001t0002g0257 a0001c0001t0004g0243 a0001c0001t0023g0221	5	42	0.1190	831	c.248 others(848): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGT TTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGAGTGCA GTG		CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr11	TogoVar
CNOT3_chr19_54132762_54160681	54133829	C C	CCCTCCCT others(824): Show CCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCC CTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCA CCTCCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTC CCCTCTCTCTGTCCCTCCCTCTCCACCTCCCCTCCCTCTGTCCCTCCCTC TCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTC CCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTC TCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCACCTCC CCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTC TCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCC ACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCT CTCCACCTCCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCC ACCTCCCCTCTCTCTGTCCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCT CTCTCCACCTCCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCT CCACCTCCCCTCTCTCTGTCCCTCCCTCTCCACCTCCCCTCTCTCCCTCC CTCTCTCCACCTCCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCT CTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCT GTCCCTCCCTCTCTCCACCTCCCCTCTCTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0116 a0001c0002t0001g0116	1	68	0.0147	831	c.-42 others(842): Show c.-4215_-4214insCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCC CTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCT CCCTCCCTCTCTCCACCTCCCCTGTCTCCACCTCCCCTCCCTCTGTCCCT CCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCCACCTCCCCTCC CTCTGTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACC TCCCCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTC TCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTC CCTCTCTCCACCTCCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTC TCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTC TCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCC TCTCTCCCTCCCTCTCTCCACCTCCCCTGTCTCCACCTCCCCTCCCTCTG TCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCCACCTCC CCTCTCTCCCTCCCTCTCTCCACCTCCCCTGTCTCCACCTCCCCTCCCTC TGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCCACCT CCCCTCTCTCCCTCCCTCTCTCCACCTCCCCTGTCTCCACCTCCCCTCCC TCTGTCCCTCCCTCTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCC ACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTG		CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding					3932		chr19	TogoVar
COG3_chr13_45459939_45541701	45485412	A A	ACCCCCCC others(824): Show ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTG ACCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ATGGGGTGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCACCTCCCTCCC GGATGGGGCGGCTGGCCGGGGCGGGGGGCCGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGG GCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTC CCGGACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCC TGGACGGCACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCC GGATGGGGCGGCTGGCCGGGCGGGGGGCTGAC	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0255 a0001c0002t0001g0255	1	42	0.0238	831	c.844 others(848): Show c.844-1056_844-1055insCGGCTGGCTGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGG TGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCACCTCCCTCCCGGATGG GGCGGCTGGCCGGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGAC CCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGAC GGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACG GCACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGATGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACG GGG		COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22					INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255826	A A	AGGGGGAA others(824): Show AGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGC AGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGG GGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGG AAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGG AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGG GAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAG GCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGA GGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCA GGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGG GGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGA AGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGA AGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGG AGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGC AGGAAGGGAGGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGG GGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGG AAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGG AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	294	0.0034	831	c.85- others(848): Show c.85-13093_85-13092insCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTC CCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTT CCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCCTCCCT TCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCC CCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCT GCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCT CCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCC TTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCC TTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTC CCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTC CTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCC CCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTC CCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCT TCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCT TCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCC CCC		COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51						chr13	TogoVar
CYSLTR1_chrX_78266468_78332611	78269606	A A	AATACAGA others(824): Show AATACAGAACATATATTATATATAATATATATAAATACAGAATATATATT ATATATAATATATAAATATAGAATATATATTATATATAAATATAGAATAT ATATTATATATAATATTAAATATAGAATATATATTATATATTATATATAA ATATAGAATATATATTATATTATATATAAATATAGAATATATATTATATA TGATATATATAAATATAGAATATATATTATATATTATATATAATATAGAA TATAGAATATATATTATATATTATATATAATATATATTATATATAATATA GAATATAGAATATATATTATATATAATATAGAATATAGAATATATATTAT ATATAATATAGAATATAGAATATATATTATGTATATATAATATAGAATGT ATATTCTATATTATATATAATATAGAATATATAATATATTTATATATAAT ATAGAATATATTCTATATAATATAGAATATATAACATATTATATATAAAT ATAATATATATTCTATATTTAATAGAATATATAATATACATTCTATATTT ATCTAGAATATATAATATATTCTATATAAATATGGAATATATATTATATA TTCTATATTTATATAGAATATATAATATATTCTATATAATATATATTCTA TATATATATAGAATATATTCTATATATATATAGAATATATATTATATATA TAGAAAATATATTATATATTCTATATTTATATATAATATATATATTATAT TCTATATTTATATAGAATATAAATATATAATATATAATATTTGTATATGT ACTATATATTATATAATATATATAATACATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03491.hp2 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0012 a0001c0002t0002g0012	2	58	0.0345	831	c.31 others(842): Show c.3126_*3127insATATGTATTATATATATTATATAATATATAGTAC ATATACAAATATTATATATTATATATTTATATTCTATATAAATATAGAAT ATAATATATATATTATATATAAATATAGAATATATAATATATTTTCTATA TATATAATATATATTCTATATATATATAGAATATATTCTATATATATATA GAATATATATTATATAGAATATATTATATATTCTATATAAATATAGAATA TATAATATATATTCCATATTTATATAGAATATATTATATATTCTAGATAA ATATAGAATGTATATTATATATTCTATTAAATATAGAATATATATTATAT TTATATATAATATGTTATATATTCTATATTATATAGAATATATTCTATAT TATATATAAATATATTATATATTCTATATTATATATAATATAGAATATAC ATTCTATATTATATATACATAATATATATTCTATATTCTATATTATATAT AATATATATTCTATATTCTATATTATATATAATATATATTCTATATTCTA TATTATATATAATATATATTATATATAATATATAATATATATTCTATATT CTATATTATATATAATATATAATATATATTCTATATTTATATATATCATA TATAATATATATTCTATATTTATATATAATATAATATATATTCTATATTT ATATATAATATATAATATATATTCTATATTTAATATTATATATAATATAT ATTCTATATTTATATATAATATATATTCTATATTTATATATTATATATAA TATATATTCTGTATTTATATATATTATATATAATATATGTTCTGTAT		CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding					1861		chrX	TogoVar
DOCK8_chr9_209865_470255	400975	C C	CACCTCCA others(824): Show CACCTCCACCACCACCACCACCACCACCTCCACCACCACCACCACCTCCA CCTCCACCACCACCACCACCTCCACCACCACCACCACCTCCACCACCACC ACCACCTCCACCACCACCACCACCTCCACCATCACCTCCACCACCACCAC CACCACCTCCACCTCCACCACCACCTCCACCACCACCACCACCTCCACCA TCACCACCACCTCCACCACCACCACCTCCACCACCAGCACTTCCACCATC ACCACCTCCTTCACCATCACCATCACCACCACCTCCACCACCACCACCAC CTCCACCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCT CCACCACCACCACCACCACCACCTCCACCACCACCACCACCTCCACCACC ACCACCTCCACCACCACCACCACCTCCACCATCACCACCACCTCCACCAC CACCACCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCA CCTCCACCATCACCTCCACCACCACCACCACCACCTCCACCTCCACCACC ACCTCCACCACCACCACCACCTCCACCATCACCACCACCTCCACCACCAC CACCTCCACCACCAGCACTTCCACCATCACCACCTCCTTCACCATCACCA CCACCACCACCTCCACCACCACCTCCACCATCACCACCTCCTTCACCATC ACCACCACCACCACCTCCACCACCACCTCCACCACCACCGTCACCACCTT CTCCACCACCACCATCTTCACCACCACCACCATCGCCCTGCCCACCTCTA GCAATATTATCACCTTTCCTATCACCTCCAAT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0007 a0007	a0007c0108 a0007c0108	a0007c0108t0012 a0007c0108t0012	a0007c0108t0012g0229 a0007c0108t0012g0229	1	155	0.0065	831	c.323 others(850): Show c.3234+1717_3234+1718insCCTCCACCACCACCACCACCACCACC TCCACCACCACCACCACCTCCACCTCCACCACCACCACCACCTCCACCAC CACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCACCTCCA CCATCACCTCCACCACCACCACCACCACCTCCACCTCCACCACCACCTCC ACCACCACCACCACCTCCACCATCACCACCACCTCCACCACCACCACCTC CACCACCAGCACTTCCACCATCACCACCTCCTTCACCATCACCATCACCA CCACCTCCACCACCACCACCACCTCCACCACCACCACCTCCACCACCACC ACCACCTCCACCACCACCACCTCCACCACCACCACCACCACCACCTCCAC CACCACCACCACCTCCACCACCACCACCTCCACCACCACCACCACCTCCA CCATCACCACCACCTCCACCACCACCACCACCACCACCTCCACCACCACC ACCACCTCCACCACCACCACCACCTCCACCATCACCTCCACCACCACCAC CACCACCTCCACCTCCACCACCACCTCCACCACCACCACCACCTCCACCA TCACCACCACCTCCACCACCACCACCTCCACCACCAGCACTTCCACCATC ACCACCTCCTTCACCATCACCACCACCACCACCTCCACCACCACCTCCAC CATCACCACCTCCTTCACCATCACCACCACCACCACCTCCACCACCACCT CCACCACCACCGTCACCACCTTCTCCACCACCACCATCTTCACCACCACC ACCATCGCCCTGCCCACCTCTAGCAATATTATCACCTTTCCTATCACCTC CAATA		DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47					INFO_REALIGN_3_PRIME	chr9	TogoVar
EIF3B_chr7_2349827_2385745	2378307	G G	GGCGCGAG others(824): Show GGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCA TGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAAT GACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATC CGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAA GGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGG GTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCT GTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTG GGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGG CGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATG GAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGA CCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTG TGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCT CTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGG AGCAGGCGTGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGACCCTGGGT GTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGCCGTGTTGTGT GAATGACCCTGGGTGTCGAGGAAGGAGAAGGC	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA19011.hp2 HG00558.hp2 NA19011.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0257 a0001c0003t0001g0263 a0001c0003t0001g0257 a0001c0003t0001g0263	2	225	0.0089	831	c.215 others(848): Show c.2155-379_2155-378insCGAGCTCTCCTGGGAATCCGTGTTCTGT GAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGG ATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCG CGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGA GGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACC CTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTG TTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCT CCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAG CAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGT CATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGA ATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAA TCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCG AGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGG AAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCT GGGTGTCATGGAGGAAGGAGCAGGCGTGAGCTCTTCTGGGAATCCGTGTT CTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCC TGGGAAGCCGTGTTGTGTGAATGACCCTGGGTGTCGAGGAAGGAGAAGGC GCG		EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2378307	G G	GGCGCGAG others(824): Show GGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCA TGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAAT GACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATC CGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAA GGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGG GTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCT GTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTG GGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGG CGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATG GAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGA CCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTG TGTTGTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCT CTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGG AGCAGGCGTGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGACCCTGGGT GTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGCCGTGTTGTGT GAATGACCCTGGGTGTCGAGGAAGGAGAAGGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	224	0.0045	831	c.215 others(848): Show c.2155-379_2155-378insCGAGCTCTCCTGGGAATCCGTGTTCTGT GAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGG ATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCG CGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGA GGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACC CTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTG TTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCT CCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAG CAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGT CATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGA ATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAA TCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCG AGCGCTCCTGGGATGCTGTGTTGTGTGAATGACCCTGGGTGTCATGGAGG AAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCT GGGTGTCATGGAGGAAGGAGCAGGCGTGAGCTCTTCTGGGAATCCGTGTT CTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCC TGGGAAGCCGTGTTGTGTGAATGACCCTGGGTGTCGAGGAAGGAGAAGGC GCG		EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2378307	G G	GGCGCGAG others(824): Show GGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCA TGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAAT GACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATC CGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAA GGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGG GTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCT GTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTG GGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGG CGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATG GAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGA CCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTG TGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCT CTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGG AGCAGGCGTGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGACCCTGGGT GTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGCCGTGTTGTGT GAATGACCCTGGGTGTCGAGGAAGGAGAAGGC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	224	0.0045	831	c.215 others(848): Show c.2155-379_2155-378insCGAGCTCTCCTGGGAATCCGTGTTCTGT GAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGG AATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCG CGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGA GGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACC CTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTG TTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCT CCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAG CAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGT CATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGA ATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAA TCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCG AGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGG AAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCT GGGTGTCATGGAGGAAGGAGCAGGCGTGAGCTCTTCTGGGAATCCGTGTT CTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCC TGGGAAGCCGTGTTGTGTGAATGACCCTGGGTGTCGAGGAAGGAGAAGGC GCG		EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
EXD3_chr9_137301896_137428162	137329177	G G	GCTACACG others(824): Show GCTACACGGGGCTACACGGGAGCTACACGGGACTACACAGGGTCACACGG GACTACACGGGACTACAGGGGACTACACGGGGTCACACGGGACTACACGG GACTACACGGGACTACACGGGACTACACGGGGTCACACGGGACTACACGG GACTACACGGGACTACACGGGGTCACACGGGACTACACGGGACTACACGG GGCTACACGGGACTACACGGGGTCACACGGGACTACACGGGACTACACGG GACTACACGGGGTCACACGGGACTACACGGGACTACACGGGGCTACACGG GACTACACGGGGTCACACGGGACTACACGGGACTACACGGGACTACACGG GACTACACAGGGTCACACGGGACTACACGGGACTACACGGGACTACACGG GGTCACACGGGACTACACGGGGCTACACGGGGCTACACGGGACTACACAG GGTCACACGGGACTACACGGGACTACACGGGACTACACGGGGTCACACGG GACTACACGGGACTACACGGGACTACACGGGACTACACGGGGTCACACGG GACTACACGGGACTACACGGGACTACACGGGGTCACACGGGACTACACGG GGCTACACGGGACTACACGGGGTCACACGGGACTACACGGGACTACACGG GACTACACGGGGCTACACGGGGTCACACGGGACTACACGGGACTACACGG GGCTACACGGGGTCACACGGGACTACACGGGACTACACGGGACTACACGG GGCTACACGGGGTCACACGGGACTACACGGGACTACACGGGGCTACACGG GGCTACACGGGACTACACGGGGTCACACGGGA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0062 a0002c0002t0001g0062	1	76	0.0132	831	c.199 others(850): Show c.1999-5035_1999-5034insTCCCGTGTGACCCCGTGTAGTCCCGT GTAGCCCCGTGTAGCCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCCGT GTAGCCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCCGT GTAGCCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCCGTGTAGCCCCGT GTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCCGT GTAGCCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGTCCCGT GTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGT GTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGT GTGACCCTGTGTAGTCCCGTGTAGCCCCGTGTAGCCCCGTGTAGTCCCGT GTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCTGT GTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCCGT GTAGTCCCGTGTAGCCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCCGT GTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCCGT GTAGCCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCCGT GTAGTCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGTCCCGT GTAGTCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCCCTGTAGTCCCGT GTAGTCCCGTGTGACCCTGTGTAGTCCCGTGTAGCTCCCGTGTAGCCCCG TGTAG		EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21						chr9	TogoVar
GALR1_chr18_77244848_77282900	77252899	C C	CCACCACC others(824): Show CCACCACCACCACACCACCACCACCACCCCACACCACCACCATCACCACC ACCACCACCACCACCACCATCACCACCATCACCACCACCACCACCACCAC CACCACCATCACCACCACCACCACCATCACCACACCACCACCACCACCAT CACCCACCACCACCACCACCACCATCACCACCACCACCACCACCACCATC ACCACCACCACCACCACCACCACCACCACCACCACCACCACCATCACCAC CACCACCATCACCACCATCACCACCACCACCACCACCACCACCATCACCA CCACCATCACCACCACCACCATCACCACCACCACCACCACCACCACCATC ACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCAC CATCACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCA CCACCACCACCATCACCACCATCACCACCACCACCACCACCACCACCACC ATCACCACCACCACCACCATCACCACCACCACCACCACCACCACCATCAC CACCACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCA TCACCACCACCATCACCACCACCACCATCACCACCACCACCACCACCACC ACCACCACCATCACCACCACCACCACCACCACCACCATCACCACCATCAC CACCACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCA CCACCACCACCACCACCACCACCACCACCACCATCACCACCATCACCACC ACCACCATCACCACCACCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	268	0.0037	831	c.666 others(848): Show c.666+1697_666+1698insACCACCACCACCACCCCACACCACCACC ATCACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCAC CACCACCACCACCACCATCACCACCACCACCACCATCACCACACCACCAC CACCACCATCACCCACCACCACCACCACCACCATCACCACCACCACCACC ACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCACCAC CATCACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCA CCATCACCACCACCATCACCACCACCACCATCACCACCACCACCACCACC ACCACCATCACCACCACCACCACCACCACCACCATCACCACCACCACCAC CACCACCACCATCACCACCACCACCACCACCACCACCACCACCATCACCA CCACCACCACCACCACCACCATCACCACCATCACCACCACCACCACCACC ACCACCACCATCACCACCACCACCACCATCACCACCACCACCACCACCAC CACCATCACCACCACCACCACCACCACCACCACCACCACCACCATCACCA CCACCACCATCACCACCACCATCACCACCACCACCATCACCACCACCACC ACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCATCAC CACCATCACCACCACCACCACCACCATCACCACCACCACCACCACCACCA CCATCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACC ATCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCAC CAC		GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr18	TogoVar
HAUS2_chr15_42543838_42574994	42557411	T T	TATATTTT others(824): Show TATATTTTATATATATTATATATTTTATATATAATATATATTTTATATAT AATATATATATTTTATATATAATATATATATAATATATAATATATATATT ATATAAAATATATAATATATATCTTATATATATCATATATTTTATATAAT ATATATTTTATATATATCATATATTTTATATATAATATATATTATATATA CATTATATAATATATATTATATTATATATATTATATATTATATAATATAT ATTATATATTATACGTAATATATAATGTATATTATATATAATATATTATG TATATAATGTATATTATATATAATATACATTATATATAATGTATATATTA CATATAATATACATTATATATAATGTATATTACATATAATATACATTGTA TATAATGTATATATTACATATAATATACATTGTATATAATGTATATATTA CATATAATATACATTATATATAATGTATATTATATGTAATATACACATTA CATATAATGTATATTATATGTAATATACACATTACATATAATGTATATTA TATGTAATATATACATTACATATAATGTATATTATATGTAATATATACAT TACATAATGTATATTATATGTAATATATACATTACATAATGTATATTATA TGTAATATATACATTACATAATGTATATTATATGTAATATATACATTACA TAATATATACATTGTATATAATGTATATTATATATAATATATACATTGTA TATAATGTATATTATATATAATATATACATTGTATATAATGTATATTATA TATAATATATACATTGTATATAATGTATATTA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0048 a0001c0001t0003g0048	1	132	0.0076	831	c.94- others(844): Show c.94-787_94-786insATATTTTATATATATTATATATTTTATATATA ATATATATTTTATATATAATATATATATTTTATATATAATATATATATAA TATATAATATATATATTATATAAAATATATAATATATATCTTATATATAT CATATATTTTATATAATATATATTTTATATATATCATATATTTTATATAT AATATATATTATATATACATTATATAATATATATTATATTATATATATTA TATATTATATAATATATATTATATATTATACGTAATATATAATGTATATT ATATATAATATATTATGTATATAATGTATATTATATATAATATACATTAT ATATAATGTATATATTACATATAATATACATTATATATAATGTATATTAC ATATAATATACATTGTATATAATGTATATATTACATATAATATACATTGT ATATAATGTATATATTACATATAATATACATTATATATAATGTATATTAT ATGTAATATACACATTACATATAATGTATATTATATGTAATATACACATT ACATATAATGTATATTATATGTAATATATACATTACATATAATGTATATT ATATGTAATATATACATTACATAATGTATATTATATGTAATATATACATT ACATAATGTATATTATATGTAATATATACATTACATAATGTATATTATAT GTAATATATACATTACATAATATATACATTGTATATAATGTATATTATAT ATAATATATACATTGTATATAATGTATATTATATATAATATATACATTGT ATATAATGTATATTATATATAATATATACATTGTATATAATGTATATTA		HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	1/5						chr15	TogoVar
IFNAR1_chr21_33319970_33364864	33322831	T T	TATGGAAT others(824): Show TATGGAATATATATATGGAATATATATATGGAATATATATATGGAATATA TATGGAATACATATATATGGAATACATATATGGAATACATATATATGGAA TACATATATATGGAATACACATATGGAATACATATATATGGAATACATAT ATGGAATACATATATATGGAATACATATATGGAATACATATATATGGAAT ACATATATGGAATACATATATATGGAATACATATATGGAATACATATATG TGGAATACATATATGGAATATATATATGTGGAATATATATATATGGAATA TATATATATGTGGAATATATATATATGGAATATATATATGGAATATATAT ATATGGAATATATATATGGAATATATATACATGGAATATATATATGGAAT ATATATACATGGAATATATATATGGAATATATATACATGGAATATATATA TGGAATATATATACATGGAATATATATATGGAATATATATACATGGAATA TATATATGGAATATATATACATGGAATATATATATGTGGAATATATACAT GGAATATATATATGGAATATATACATATGGAATATATATATGGAATATAT ACGTATGGAATATATATATGGAATATATACGTATGGAATATATATATGGA ATATATACGTATGGAATATATATATGGAATATATACGTATGGAATATATA TATGGAATATATACGTATGGAATATATATATGGAATATATACGTATGGAA TATATATATGGAATATATACGTATGGAATATATATATGGAATATATACGT ATGGAATATATATATGGAATATATACGTATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0187 a0002c0002t0002g0187	1	218	0.0046	831	c.-22 others(842): Show c.-2225_-2224insATGGAATATATATATGGAATATATATATGGAATA TATATATGGAATATATATGGAATACATATATATGGAATACATATATGGAA TACATATATATGGAATACATATATATGGAATACACATATGGAATACATAT ATATGGAATACATATATGGAATACATATATATGGAATACATATATGGAAT ACATATATATGGAATACATATATGGAATACATATATATGGAATACATATA TGGAATACATATATGTGGAATACATATATGGAATATATATATGTGGAATA TATATATATGGAATATATATATATGTGGAATATATATATATGGAATATAT ATATGGAATATATATATATGGAATATATATATGGAATATATATACATGGA ATATATATATGGAATATATATACATGGAATATATATATGGAATATATATA CATGGAATATATATATGGAATATATATACATGGAATATATATATGGAATA TATATACATGGAATATATATATGGAATATATATACATGGAATATATATAT GTGGAATATATACATGGAATATATATATGGAATATATACATATGGAATAT ATATATGGAATATATACGTATGGAATATATATATGGAATATATACGTATG GAATATATATATGGAATATATACGTATGGAATATATATATGGAATATATA CGTATGGAATATATATATGGAATATATACGTATGGAATATATATATGGAA TATATACGTATGGAATATATATATGGAATATATACGTATGGAATATATAT ATGGAATATATACGTATGGAATATATATATGGAATATATACGTATGG		IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding					2138		chr21	TogoVar
KLHDC4_chr16_87702812_87770986	87738936	C C	CACACCAG others(824): Show CACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACA CCAGCACCTCATCCATCCACACACCAGCATCTCATCCATCCACACACCAG CACCTCATCCACCCACACACCAGCACCTCATCCACCCACACACCAGCACC TCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCAT CCATCCACACACCAGCACCTCATCCACACACCAGCACCTCATCCATCCAC ACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCACCCACACAC CAGCACCTCATCCATCCACACACCAGCACCTCATCCACACACCAGCACCT CATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATC CACCCACACACCAGCACCTCATCCACACACCAGCACCTCATCCATCCACA CACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACC AGCATCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCA CCTCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACCTC ATCCATCCACACACCAGCATCCCATCCATCCACACACCAGCACCTCATCC ATCCACACACCAGTATCTCATCCACACACCAGCACCTCATCCATCCACAC ACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCA GCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCAC CTCATCCACCCACACACCAGCACCTCATCCAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0376 a0001c0001t0001g0376	1	188	0.0053	831	c.507 others(848): Show c.507-8293_507-8292insATGGATGAGGTGCTGGTGTGTGGGTGGA TGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAG GTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGC TGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGATACTGGTGTGT GGATGGATGAGGTGCTGGTGTGTGGATGGATGGGATGCTGGTGTGTGGAT GGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGAT GAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGA TGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCT GGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGGTGCTGGTGTGTG GGTGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATG GATGAGGTGCTGGTGTGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGT GCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTG GTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGGTGCTGGTGTGTGG ATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGG ATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGGTGGATGA GGTGCTGGTGTGTGGATGGATGAGATGCTGGTGTGTGGATGGATGAGGTG CTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGG TGT		KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11						chr16	TogoVar
KLHDC4_chr16_87702812_87770986	87738936	C C	CACACCAG others(824): Show CACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACA CCAGCATCTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAG CACCTCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACC TCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCAT CCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCAC ACACCAGCACCTCATCCACCCACACACCAGCACCTCATCCATCCACACAC CAGCACCTCATCCACACACCAGCACCTCATCCATCCACACACCAGCACCT CATCCACCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATC CACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACA CACCAGCACCTCATCCATCCACACACCAGCATCTCATCCATCCACACACC AGCACCTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCA CCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCATCCC ATCCATCCACACACCAGCACCTCATCCATCCACACACCAGTATCTCATCC ACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACAC ACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCA GCACCTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCAC CTCATCCATCCACACACCAGCACCTCATCCAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	188	0.0053	831	c.507 others(848): Show c.507-8293_507-8292insATGGATGAGGTGCTGGTGTGTGGATGGA TGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAG GTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGC TGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGT GTGTGGATGAGATACTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGAT GGATGGGATGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGAT GAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGG TGCTGGTGTGTGGATGGATGAGATGCTGGTGTGTGGATGGATGAGGTGCT GGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTG TGTGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGGTG GATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGGT GCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTG GTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGT GTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGG ATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGA GGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGATG CTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGG TGT		KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11						chr16	TogoVar
LCN15_chr9_136754634_136769518	136769477	A A	ACCCCCGC others(824): Show ACCCCCGCCACCCCTCCATGCACTGCCCCCCGCCACCCCCCCATGCACTG CCCCCCCCGCCACCCCGCCACCCCTCCATGCACTGCCCCCCCCGCCACCC CTCCATGCACTGCCCCCCCCGCCACCCCTCCATGCACTGCCCCCCCCGCC ACCCCTCCATGCACTGCCCCCCCCGCCACCCCTCCATGCACTGCCCCCCG CCACCCCCCCATGCACTGCCCCCCCCGCCACCCCGCCACCCCTCCATGCA CTGCCCCCCCCGCCACCCCTCCATGCACTGCCCCCCCCGCCACCCCTCCA TGCACTGCCCCCCCCGCCACCCCTCCATGCACTGCCCCCCCCGCCACCCC TCCATGCACTGCCCCCCGCCACCCCCCCATGCACTGCCCCCCCCGCCACC CCGCCACCCCTCCATGCACTGCCCCCCCCGCCACCCCTCCATGCACTGCC CCCCCCGCCACCCCTCCATGCACTGCCCCCCCCGCCACCCCTCCATGCAC TGCCCCCCGCCACCCCCCCATGCACTGCCCCCCCCGCCACCCCTCCATGC ACTGCCCCCCCCGCCACCCCTCCATGCACTGCCCCCCCCGCCACCCCTCC ATGCACTGCCCCCCCCGCCACCCCTCCATGCACTGCCCCCCCCGCCACCC CTCCATGCACTGCCCCCCCCGCCACCCCTCCATGCACTGCCCCCCCCGCC ACCCCTCCATGCACTGCCCCCCCCGCCACCCCTCCATGCACTGCCCCCCC CGCCACCCCTCCATGCACTGCCCCCCGCCACCCCCCCATGCACTGCCCCC CCCGCCACCCCGCCACCCCTCCATGCACTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0018 a0003c0005t0001g0018	1	339	0.0029	831	c.-49 others(842): Show c.-4990_-4989insGGCAGTGCATGGAGGGGTGGCGGGGTGGCGGGGG GGGCAGTGCATGGGGGGGTGGCGGGGGGCAGTGCATGGAGGGGTGGCGGG GGGGGCAGTGCATGGAGGGGTGGCGGGGGGGGCAGTGCATGGAGGGGTGG CGGGGGGGGCAGTGCATGGAGGGGTGGCGGGGGGGGCAGTGCATGGAGGG GTGGCGGGGGGGGCAGTGCATGGAGGGGTGGCGGGGGGGGCAGTGCATGG AGGGGTGGCGGGGGGGGCAGTGCATGGAGGGGTGGCGGGGGGGGCAGTGC ATGGAGGGGTGGCGGGGGGGGCAGTGCATGGGGGGGTGGCGGGGGGCAGT GCATGGAGGGGTGGCGGGGGGGGCAGTGCATGGAGGGGTGGCGGGGGGGG CAGTGCATGGAGGGGTGGCGGGGGGGGCAGTGCATGGAGGGGTGGCGGGG TGGCGGGGGGGGCAGTGCATGGGGGGGTGGCGGGGGGCAGTGCATGGAGG GGTGGCGGGGGGGGCAGTGCATGGAGGGGTGGCGGGGGGGGCAGTGCATG GAGGGGTGGCGGGGGGGGCAGTGCATGGAGGGGTGGCGGGGGGGGCAGTG CATGGAGGGGTGGCGGGGTGGCGGGGGGGGCAGTGCATGGGGGGGTGGCG GGGGGCAGTGCATGGAGGGGTGGCGGGGGGGGCAGTGCATGGAGGGGTGG CGGGGGGGGCAGTGCATGGAGGGGTGGCGGGGGGGGCAGTGCATGGAGGG GTGGCGGGGGGGGCAGTGCATGGAGGGGTGGCGGGGTGGCGGGGGGGGCA GTGCATGGGGGGGTGGCGGGGGGCAGTGCATGGAGGGGTGGCGGGGG		LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding					4960		chr9	TogoVar
LHPP_chr10_124456823_124619141	124471657	A A	ATATATTT others(824): Show ATATATTTATATATATATTATTTATATATATATTTATATATATTTATATA TATTTATATATATTTATATATATTTATATATATATTTATATATATATTTA TATATATTTATATATATATTTATATATATATTCATATATATTTATATATA TTTATATATATTTATATATATATTTATATATATTTATATATATTTATATA TATATTTATATATATATTTATATATATATTTATATATATTTATATATATA TTTATATATATATATTTTTATATATATTTATATATATTTTTATATATAGT TATATATATTTATATATAGTTATATATATTTATGTATAGTTATATATATT TATGTATAGTTATATATAGTTATGTATAGTTATATATATAGTTATGTATA GTTATATATATAGTTATATATATATATTTTTATATATATAGTTATATATA TATATTTTTATATATATAGTTATATATATATATTTTTATATATATAGTTA TATATATATATTTTTATATATATAGTTATATATATATTTTTATATATATA GTTATATATATATTTATATATATAGTTATATATTTATATATATTTATATA TATTTATATATATATTTATATATTTATTTATATATATTTATATATGTATT TATATATATTTATATATATTTATATGTATTTATATATATTTATATATATT TATATATATATATATAAATATATTTATATATATAAATATAAATATTTATA TATATTTATATATATTTATATATATATTTATGTATATTTATATATATTTA TATATATATTTATGTATATTTATATATGTATT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	80	0.0125	831	c.125 others(848): Show c.125+9673_125+9674insATTTATATATATATTATTTATATATATA TTTATATATATTTATATATATTTATATATATTTATATATATTTATATATA TATTTATATATATATTTATATATATTTATATATATATTTATATATATATT CATATATATTTATATATATTTATATATATTTATATATATATTTATATATA TTTATATATATTTATATATATATTTATATATATATTTATATATATATTTA TATATATTTATATATATATTTATATATATATATTTTTATATATATTTATA TATATTTTTATATATAGTTATATATATTTATATATAGTTATATATATTTA TGTATAGTTATATATATTTATGTATAGTTATATATAGTTATGTATAGTTA TATATATAGTTATGTATAGTTATATATATAGTTATATATATATATTTTTA TATATATAGTTATATATATATATTTTTATATATATAGTTATATATATATA TTTTTATATATATAGTTATATATATATATTTTTATATATATAGTTATATA TATATTTTTATATATATAGTTATATATATATTTATATATATAGTTATATA TTTATATATATTTATATATATTTATATATATATTTATATATTTATTTATA TATATTTATATATGTATTTATATATATTTATATATATTTATATGTATTTA TATATATTTATATATATTTATATATATATATATAAATATATTTATATATA TAAATATAAATATTTATATATATTTATATATATTTATATATATATTTATG TATATTTATATATATTTATATATATATTTATGTATATTTATATATGTATT TAT		LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr10	TogoVar
MUC5B_chr11_1218066_1267172	1251000	C C	CAAGGTCG others(824): Show CAAGGTCGACCACCATGGCCACCACACAGGGGCGGTCCCTGCCCCCCAGC AGTCCCCACACGGTGCCCACAGCCTGGACTTCGGCCACCTCGGGCATCTT GGGCACCACCCACATCACAGAGCCTTCCACGGGGACTTCCCACACCCCAG CAGCAACCACCGGTACCACCCAGCACTCGACTCCAGCCCTGTCCAGCCCT CACCCTAGCAGCAGGACCACCGAGTCACCCCCTTCTCCAGGGACGACCAC CCCGGGCCACACCACGGCCACCTCCAGGACCACGGCCACGGCCACACCCA GCAAGACCCGCACCTCGACCCTGCTGCCCAGCAGCCCCACATCGGCCCCC ATAACCACGGTGGTGACCACGGGCTGTGAGCCCCAGTGTGCCTGGTCAGA GTGGCTGGACTACAGCTACCCCATGCCGGGGCCCTCTGGGGGGGACTTTG ACACCTACTCCAACATCCGTGCGGCCGGAGGGGCCGTCTGTGAGCAGCCC CTGGGCCTCGAGTGCCGTGCCCAGGCCCAGCCTGGTGTCCCCCTGCGGGA GTTGGGCCAGGTCGTGGAATGCAGCCTGGACTTTGGCCTGGTCTGCAGGA ACCGTGAGCAGGTGGGGAAGTTCAAGATGTGCTTCAACTATGAAATCCGC GTGTTCTGCTGCAACTACGGCCACTGCCCCAGCACCCCTGCCACCAACTC TACGGCCACGCCCTCCTCCACTCCAGGGACGACCTGGATCCTCACAGAGC AGACCACAGCAGCCACTACGACCACAACCACTGGATCCACGGCCATCCCG TCCTCCACCCCGGGAACAGCTCCCCCTCCCAA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03130.hp1 HG03130.hp1	a0104 a0104	a0104c0112 a0104c0112	a0104c0112t0003 a0104c0112t0003	a0104c0112t0003g0172 a0104c0112t0003g0172	1	348	0.0029	831	c.141 others(842): Show c.14121_14122insAGGTCGACCACCATGGCCACCACACAGGGGCGGT CCCTGCCCCCCAGCAGTCCCCACACGGTGCCCACAGCCTGGACTTCGGCC ACCTCGGGCATCTTGGGCACCACCCACATCACAGAGCCTTCCACGGGGAC TTCCCACACCCCAGCAGCAACCACCGGTACCACCCAGCACTCGACTCCAG CCCTGTCCAGCCCTCACCCTAGCAGCAGGACCACCGAGTCACCCCCTTCT CCAGGGACGACCACCCCGGGCCACACCACGGCCACCTCCAGGACCACGGC CACGGCCACACCCAGCAAGACCCGCACCTCGACCCTGCTGCCCAGCAGCC CCACATCGGCCCCCATAACCACGGTGGTGACCACGGGCTGTGAGCCCCAG TGTGCCTGGTCAGAGTGGCTGGACTACAGCTACCCCATGCCGGGGCCCTC TGGGGGGGACTTTGACACCTACTCCAACATCCGTGCGGCCGGAGGGGCCG TCTGTGAGCAGCCCCTGGGCCTCGAGTGCCGTGCCCAGGCCCAGCCTGGT GTCCCCCTGCGGGAGTTGGGCCAGGTCGTGGAATGCAGCCTGGACTTTGG CCTGGTCTGCAGGAACCGTGAGCAGGTGGGGAAGTTCAAGATGTGCTTCA ACTATGAAATCCGCGTGTTCTGCTGCAACTACGGCCACTGCCCCAGCACC CCTGCCACCAACTCTACGGCCACGCCCTCCTCCACTCCAGGGACGACCTG GATCCTCACAGAGCAGACCACAGCAGCCACTACGACCACAACCACTGGAT CCACGGCCATCCCGTCCTCCACCCCGGGAACAGCTCCCCCTCCCAAA	p.Pro others(846): Show p.Pro4707_Val4708insArgSerThrThrMetAlaThrThrGlnGly ArgSerLeuProProSerSerProHisThrValProThrAlaTrpThrSe rAlaThrSerGlyIleLeuGlyThrThrHisIleThrGluProSerThrG lyThrSerHisThrProAlaAlaThrThrGlyThrThrGlnHisSerThr ProAlaLeuSerSerProHisProSerSerArgThrThrGluSerProPr oSerProGlyThrThrThrProGlyHisThrThrAlaThrSerArgThrT hrAlaThrAlaThrProSerLysThrArgThrSerThrLeuLeuProSer SerProThrSerAlaProIleThrThrValValThrThrGlyCysGluPr oGlnCysAlaTrpSerGluTrpLeuAspTyrSerTyrProMetProGlyP roSerGlyGlyAspPheAspThrTyrSerAsnIleArgAlaAlaGlyGly AlaValCysGluGlnProLeuGlyLeuGluCysArgAlaGlnAlaGlnPr oGlyValProLeuArgGluLeuGlyGlnValValGluCysSerLeuAspP heGlyLeuValCysArgAsnArgGluGlnValGlyLysPheLysMetCys PheAsnTyrGluIleArgValPheCysCysAsnTyrGlyHisCysProSe rThrProAlaThrAsnSerThrAlaThrProSerSerThrProGlyThrT hrTrpIleLeuThrGluGlnThrThrAlaAlaThrThrThrThrThrThr GlySerThrAlaIleProSerSerThrProGlyThrAlaProProProLy s	MUC5B	ENSG00000117983.17	transcript	ENST00000529681.5	protein_coding	31/49	14180/17911	14122/17289	4708/5762		INFO_REALIGN_3_PRIME	chr11	TogoVar
NXN_chr17_794310_984776	952378	G G	GGTCAGAG others(824): Show GGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACAC TGTGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACC ACGGACGGTCACACTGTGGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGG AACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGGCTGGGGTCAG ACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGG GGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGAC GGTCACACTGTGGGGGGGCTGGGGTCAGACAGACCAAGGTTGGAACCCGG CAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGAGTCAGAGAGACCA AGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGG AGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACAC TGTGGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTAC CACGGACGGTCACACTGTGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGG AACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGAGTCAGA CCAAGGTTGCAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGC TGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCA CACTGTGGGGGGGGCTGGGGTCAGACAGACCAAGGTTGGAACCCGGCAGG TACCACGGACGGTCACACTGTGGGGGGCTGGA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	114	0.0088	831	c.360 others(850): Show c.360+26940_360+26941insTCCAGCCCCCCACAGTGTGACCGTCC GTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACCCCAGCCCCCCCC ACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTG ACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTGCAA CCTTGGTCTGACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGC CGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCCACAGTGTGACCG TCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCC CCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGT CTGACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTC CAACCTTGGTCTCTCTGACTCCAGCCCCCCCACAGTGTGACCGTCCGTGG TACCTGCCGGGTTCCAACCTTGGTCTGTCTGACCCCAGCCCCCCCACAGT GTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCC AGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTG GTCTGTCTGACCCCAGCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGC CGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCCCACAGTGTGACC GTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCC CCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCT CTGAC		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar

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