Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MOCS1_chr6_39899170_39939462	39926745	G G	GAAGGAGG others(954): Show GAAGGAGGGGGAAGGAGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAG AAGGGGAGGGGCAGGGGGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAA GGGGCGGGGGGAAGGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAG GGGTGAGGGGAAGGGGGGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGG GGAGGGGGAGGGGAGGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGGGAGGGGAGGGGAGGGGATGGGAGGGGAGGGGAGGGGGGA GGGGGAGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGGG AGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGG GAGGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGG GGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGAAGAGAGGGAGGGGGA GGGGGAGGGAAGAGAGGGAGGGGGAGGGGGAGGGAAGAGAGGGAGGGGGA GGGGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGGGGGA GGGAGGAGGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAGGGGAGGG GGAGGGGGAGGGAAGGGAGGGAGAGGGAGGGGAGGGGAGTGGAGGGGGAG GGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAGGG GAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGGGGAGG GGGAGGGAGGGT	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0099 a0001c0001t0026g0099	1	213	0.0047	961	c.250 others(976): Show c.250+583_250+584insACCCTCCCTCCCCCTCCCCTCCCTCCCCCT CCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCCCC TCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCCCT CCCCTCCCTCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCT CCCCCTCCCCCTCCACTCCCCTCCCTCCTCCCTCCCCCTCCCCTCCCCTC CCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTCTCTTCC CTCCCCCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCCTCCCTCTCTTCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCC CCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCT CCCATCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCT CCCTCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCATCCTCCCCTCA CCCCTTTCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCCCCCCTT CCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTTTTCCCCCCTTCCCCGC CCCTTTTCCCCCTCCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCTTTCCG CCTTCCTCCTTCCCCCTCCTTCCCCCTCCTT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MOCS1_chr6_39899170_39939462	39926745	G G	GAAGGAGG others(954): Show GAAGGAGGGGGAAGGAGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAG AAGGGGAGGGGCAGGGGGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAA GGGGCGGGGGGAAGGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAG GGGTGAGGGGAAGGGGGGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGG GGAGGGGGAGGGGAGGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGGGAGGGGGAGGGGAGGGGATGGGAGGGGAGGGGAGGGGGGAGGGG GAGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGG GAGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGGA GGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGGAGGGGAG GGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGG GGGAGGGGAGGGGGAGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGGGGG AGGGAAGAGAGGGAGGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGGGGG AGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGGGA GGGAGGAGGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAGGGGAGGG GGAGGGGGAGGGAAGGGAGGGAGAGGGAGGGGAGGGGAGTGGAGGGGGAG GGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAGGG GAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGGGGAGG GGGAGGGAGGGT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	213	0.0047	961	c.250 others(976): Show c.250+583_250+584insACCCTCCCTCCCCCTCCCCTCCCTCCCCCT CCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCCCC TCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCCCT CCCCTCCCTCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCT CCCCCTCCCCCTCCACTCCCCTCCCTCCTCCCTCCCCCTCCACTCCCCTC CCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTCT CTTCCCTCCCCCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCCTCCCTCT CTTCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCC TCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCC CCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTC CCCTCCCATCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCT CCCTCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCATCCTCCCCTCA CCCCTTTCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCCCCCCTT CCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTTTTCCCCCCTTCCCCGC CCCTTTTCCCCCTCCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCTTTCCG CCTTCCTCCTTCCCCCTCCTTCCCCCTCCTT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MSLN_chr16_755734_773862	767566	T T	TGCGTGGA others(954): Show TGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGGGGCGTGGAGGAG GGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGTGTGGA GGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGGGGTGCGTGG AGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGGGGGGTGT GGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGGCACGTGGAGGGGGGGCGT GTGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGA GGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGGGC GCGTGGAGGGGGGAGCGTGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGG CCGTGTGGGGGGGCGTGGAGGGGGGCGCGTGGAGGAGGAGGGGCGCATGG GGGGGTGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGGCACGTGGAGG GGGGCGTGTGGGGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCG TGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAG GGGGGAGCGTGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGG GGGGGCGTGGAGGGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGT GGAGGGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGGGGC GTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGAGGAGGGGCGCGTGGAG GGGGGAGCGTGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGG GGGGGGTGCATGGGGGGGCGTGGAGGGGGGCGCGTGGAGGAGGGGCGCGT GGAGGGGGGCGCGTGGGGGGGGTGCATGGGGGGGCGTGGAGGGGGGTGCG TGGAGGAGGGGC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0047 a0005c0005t0001g0047	1	246	0.0041	961	c.159 others(978): Show c.1596+120_1596+121insGGGGAGCGTGGGGGGCGTGGAGGAGGGG CGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGTGTGGAGGG GGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGGGGTGCGTGGAGG AGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGGGGGGTGTGGA GGGGGGCGCGTGGGGGTGTGTGGGGGGGGCACGTGGAGGGGGGGCGTGTG GGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGG GCGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCG TGGAGGGGGGAGCGTGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGCCG TGTGGGGGGGCGTGGAGGGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGG GGTGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGGCACGTGGAGGGGG GCGTGTGGGGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGG AGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGG GGAGCGTGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGG GGCGTGGAGGGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGA GGGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGGGGCGTG GAGGAGGGGCGCGTGGAGGGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGG GGAGCGTGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGG GGGTGCATGGGGGGGCGTGGAGGGGGGCGCGTGGAGGAGGGGCGCGTGGA GGGGGGCGCGTGGGGGGGGTGCATGGGGGGGCGTGGAGGGGGGTGCGTGG AGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOTCH1_chr9_136489433_136551048	136528393	G G	GGGGGGTG others(954): Show GGGGGGTGGGCAGGGACAGTGGGGGGGGATGGGCAGGGACGGTGCGGGGG GGATGGGCAGGGACGGTGAGGGGGGGATGGGCAGGGACGGTGAGGGGGGG ATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGAGGGGGATGGGC AGGGACAGTGGGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGAC AGTGGGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGG GTGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAG GGACAGTGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTG GGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAAGGACAGTGGGGGGT GGGCAGGGACAGTGGGGGGCGATGGGCAGGGACAGTGGGGGGGATGGGCA GGGACAGTGAGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGT GGGGGGCGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGAGGG GGATGGGCAGGGACAGTGGGGCGATGGGCAGGGACAGTGGGGGGGATGGG CAGGGACAGTGCGGGGGGGATGGGCAGGGACGGTGAGGGGGGGATGGGCA GGGACGGTGAGGGGGGGATGGGCAGGGACGGTGAGGGGGATGGGCAGGGA CAGTGGGGGGTGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGG GGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGAGGGGGATGG GCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGCGATGGGCAGGGA CAGTGGGGGGGATGGGCAGGGACAGTGGGGGGGGATGGGCAGGGACAGTG GGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGTGG GCAGGGACAGTA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0193 a0001c0001t0032g0193	1	139	0.0072	961	c.141 others(978): Show c.141-4415_141-4414insTACTGTCCCTGCCCACCCCCCACTGTCC CTGCCCACCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCAT CCCCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCGCCC CCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCTCACTGT CCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCCACTGTCCCTG CCCACCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCC TCACCGTCCCTGCCCATCCCCCCCTCACCGTCCCTGCCCATCCCCCCCTC ACCGTCCCTGCCCATCCCCCCCGCACTGTCCCTGCCCATCCCCCCCACTG TCCCTGCCCATCGCCCCACTGTCCCTGCCCATCCCCCTCACTGTCCCTGC CCATCCCCCCCACTGTCCCTGCCCATCGCCCCCCACTGTCCCTGCCCACC CCCCACTGTCCCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCCCAC TGTCCCTGCCCATCGCCCCCCACTGTCCCTGCCCACCCCCCACTGTCCTT GCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCAT CCCCCCCACTGTCCCTGCCCATCCCCCACTGTCCCTGCCCACCCCCCACT GTCCCTGCCCATCCCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGC CCACCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCC CTCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCTCACT GTCCCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCCCTCACCGTCC CTGCCCATCCCCCCCTCACCGTCCCTGCCCATCCCCCCCGCACCGTCCCT GCCCATCCCCCCCCACTGTCCCTGCCCACCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
PIEZO1_chr16_88710338_88790220	88712912	C C	CCCTGAGA others(954): Show CCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGA GCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCT TCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGG CCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACC CCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCA TACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGA GAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCC TTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCG GGTCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGAC CCCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTC ATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCT GAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCTC CTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGG GCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACC CCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTC ATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTG AGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCC CTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCC GGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGA CCCCCACTCATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0010 a0003c0005t0010	a0003c0005t0010g0001 a0003c0005t0010g0001	1	275	0.0036	961	c.26 others(972): Show c.2692_*2693insTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGC TCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAGGGG CATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGG GGGTCAGGGCCCGGGGAAGGGGGGCTCTCAGGGGCATGAGTGGGGGTCAG GGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGG AAGGGGGGCTCTCAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGG GCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGG TATGAGTGGGGGTCAGGGCCCGGGGAAGGAGGGCTCTCGGGTATGAGTGG GGGTCAGGGCCCGGGGAAGGGGGCTCTCAGGGGTATGAGTGGGGGTCAGG GCCCGGGGAAGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGG AAGGGGGCTCTCAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGG CTCTCGGGTATGAGTGGGGGTCAGGACCCGGGGAAGGGGGGCTCTCAGGG GCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTG GGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAGGGGTATGAGTGGGGGTCA GGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGG GAAGGGGGCTCTCAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGG CTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCAGG GGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAGGGGTATGA GTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCAGGGGTATGAGTGGGGGT CAGGGCCCGGGGAAGGGGGCTCTCAGG	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding		2425		chr16	TogoVar
PKD1L3_chr16_71924538_72005402	71946837	T T	TGGGGAGA others(954): Show TGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATG GGGAGAGAAGGGGAGGGAGAGAGTGGGAGAGGGGGAGAGAAGGGGAGGGG GAGACAAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAAGGGGAGGG GGAGAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAGGGGGAGGGGG AGAGAGGGGGAGAGAAAAGGAGAGGGGGAGAGGGGGAGAGAAGGGGAGAG AAGGGGAGAGAAGGGGAGAGAAGGGGAGGGGGAGGAGGGGGAGAGGGGGA GAGGTGGAGGAGGGGGAGAGGGGGAGAGGGGGAGGAGGGGGAGGAGGGGG AGGAGGGGGAGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGG GGGAGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGGGAGGGGGGGAGG GGGAGAGGGGGAGAGGGGGAGAGGGGGAGGGGGAGGAGGGGGAGAGGGGA GGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGG AAGTGGGAAGGGGCAAGAGAGAGGGCGAGAGAGAGGGCGGGTGAGAGAGG GCGAGTGAGAGAGAGAGGGCGAGTGAGAGAGAGAGGGCAGGTGAGAGAGA GGGCGAGAGAAAGAGAGGGTGGGCAAGAGAGAGAGGGCGAGGGCGAGAGA GAGAGAGGGCGAGAGAGAGAGGGCGGGCGAGAGAGAGGGCAGGCGAGAGA GAGGGCGGGTGAGAGAGAGAGAGGGTGGGCAAGAGAGAGAGAGAGGGCGG GCAAGAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGAGAGAGGGCGGGC AAGAGAGAGAGTGAGAGGGCGAGAGGGAGAGAGAGGGAGAGGGCGAGAGG GAGAGGGAGAGAAAGAGGGAGAGAAAGAGGGAGAGAAAGAGGGAGAGAAA GAGGGAGAGAAA	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	24	0.0417	961	c.371 others(978): Show c.3718+654_3718+655insTTTCTCTCCCTCTTTCTCTCCCTCTTTC TCTCCCTCTTTCTCTCCCTCTTTCTCTCCCTCTCCCTCTCGCCCTCTCCC TCTCTCTCCCTCTCGCCCTCTCACTCTCTCTCTTGCCCGCCCTCTCTCTC TCTCTCTTGCCCGCCCTCTCTCTCTCTCTCTTGCCCGCCCTCTCTCTCTC TCTTGCCCACCCTCTCTCTCTCTCACCCGCCCTCTCTCTCGCCTGCCCTC TCTCTCGCCCGCCCTCTCTCTCTCGCCCTCTCTCTCTCTCGCCCTCGCCC TCTCTCTCTTGCCCACCCTCTCTTTCTCTCGCCCTCTCTCTCACCTGCCC TCTCTCTCTCACTCGCCCTCTCTCTCTCACTCGCCCTCTCTCACCCGCCC TCTCTCTCGCCCTCTCTCTTGCCCCTTCCCACTTCCCCCTCTCCCCCTCC TCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCTCTCCCCCTCC TCCCCCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCCCCCCCTCCCCC CCTCCTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCCTC CCCCTCCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCCTCCCCCTC CTCCCCCTCTCCCCCTCTCCCCCTCCTCCACCTCTCCCCCTCTCCCCCTC CTCCCCCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCC CCCTCTCCCCCTCTCCTTTTCTCTCCCCCTCTCTCCCCCTCCCCCTCTCT CCCCCTCTCCCCCTCCCCTTCTCTCCCCCTCTCCCCCTCCCCTTCTCTCC CCCTCTCCCCCTCCCCTTCTCTCCCCCTTGTCTCCCCCTCCCCTTCTCTC CCCCTCTCCCACTCTCTCCCTCCCCTTCTCTCCCCATCCCCTTCTCTCCC CATCCCCTTCTCTCCCCATCCCCTTCTCTCCCC	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar
PKD1L3_chr16_71924538_72005402	71946837	T T	TGGGGAGA others(954): Show TGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATG GGGAGAGAAGGGGAGGGAGAGAGTGGGAGAGGGGGAGAGAAGGGGAGGGG GAGACAAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAAGGGGAGGG GGAGAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAGGGGGAGGGGG AGAGAGGGGGAGAGAAAAGGAGAGGGGGAGAGGGGGAGAGAAGGGGAGAG AAGGGGAGAGAAGGGGAGAGAAGGGGAGGGGGAGGAGGGGGAGAGGGGGA GAGGTGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGG GAGGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGAG GGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGGGA GGGGGGGAGGGGGAGAGGGGGAGAGGGGGAGAGGGGGAGAGGGGGAGGGG GAGGAGGGGGAGAGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGG GAGGAGGGGGAGAGGGGGAAGTGGGAAGGGGCAAGAGAGAGGGCGAGAGA GAGGGCGGGTGAGAGAGGGCGAGTGAGAGAGAGAGGGCGAGTGAGAGAGA GAGGGCAGGTGAGAGAGAGGGCGAGAGAAAGAGAGGGTGGGCAAGAGAGA GAGGGCGAGGGCGAGAGAGAGAGAGGGCGAGAGAGAGAGGGCGGGCGAGA GAGAGGGCAGGCGAGAGAGAGGGCGGGTGAGAGAGAGAGAGGGTGGGCAA GAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGAGAGAGGGCGGGCAAGAGA GAGAGAGAGAGGGCGGGCAAGAGAGAGAGTGAGAGGGCGAGAGGGAGAGA GAGGGAGAGGGCGAGAGGGAGAGAAAGAGGGAGAGAAAGAGGGAGAGAAA GAGGGAGAGAAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0014 a0014	a0014c0082 a0014c0082	a0014c0082t0001 a0014c0082t0001	a0014c0082t0001g0289 a0014c0082t0001g0289	1	24	0.0417	961	c.371 others(978): Show c.3718+654_3718+655insTTTCTCTCCCTCTTTCTCTCCCTCTTTC TCTCCCTCTTTCTCTCCCTCTCGCCCTCTCCCTCTCTCTCCCTCTCGCCC TCTCACTCTCTCTCTTGCCCGCCCTCTCTCTCTCTCTCTTGCCCGCCCTC TCTCTCTCTCTCTTGCCCGCCCTCTCTCTCTCTCTTGCCCACCCTCTCTC TCTCTCACCCGCCCTCTCTCTCGCCTGCCCTCTCTCTCGCCCGCCCTCTC TCTCTCGCCCTCTCTCTCTCTCGCCCTCGCCCTCTCTCTCTTGCCCACCC TCTCTTTCTCTCGCCCTCTCTCTCACCTGCCCTCTCTCTCTCACTCGCCC TCTCTCTCTCACTCGCCCTCTCTCACCCGCCCTCTCTCTCGCCCTCTCTC TTGCCCCTTCCCACTTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCT CCCCCTCTCCCCCTCCTCCCCTCTCCCCCTCCTCCCCCTCCCCCTCTCCC CCTCTCCCCCTCTCCCCCTCTCCCCCTCCCCCCCTCCCCCCCTCCTCCCC CTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCC CCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCC TCCCCCTCCTCCCCCTCTCCCCCTCCTCCACCTCTCCCCCTCTCCCCCTC CTCCCCCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCC CCCTCTCCCCCTCTCCTTTTCTCTCCCCCTCTCTCCCCCTCCCCCTCTCT CCCCCTCTCCCCCTCCCCTTCTCTCCCCCTCTCCCCCTCCCCTTCTCTCC CCCTCTCCCCCTCCCCTTCTCTCCCCCTTGTCTCCCCCTCCCCTTCTCTC CCCCTCTCCCACTCTCTCCCTCCCCTTCTCTCCCCATCCCCTTCTCTCCC CATCCCCTTCTCTCCCCATCCCCTTCTCTCCCC	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar
PKD1L3_chr16_71924538_72005402	71946837	T T	TGGGGAGA others(954): Show TGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATG GGGAGAGAAGGGGAGGGAGAGAGTGGGAGAGGGGGAGAGAAGGGGAGGGG GAGACAAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGGAGAGAAGGGGAGG GGGAGAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAGGGGGGAGGG GGAGAGAGGGGGAGAGAAAAGGAGAGGGGGAGAGGGGGAGAGAAGGGGAG AGAAGGGGAGAGAAGGGGAGAGAAGGGGAGGGGGAGGAGGGGGAGAGGGG GAGAGGTGGAGGAGGGGGGAGAGGGGGAGAGGGGGGGAGGAGGGGGAGGA GGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGGGA GAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGGGAGGGGGGGAGGGGGA GAGGGGGAGAGGGGGAGAGGGGGAGGGGGAGGAGGGGGAGAGGGGAGGAG GGGGAGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAAGT GGGAAGGGGCAAGAGAGAGGGCGAGAGAGAGGGCGGGTGAGAGAGGGCGA GTGAGAGAGAGAGGGCGAGTGAGAGAGAGAGGGCAGGTGAGAGAGAGGGG CGAGAGAAAGAGAGGGTGGGCAAGAGAGAGAGGGCGAGGGCGAGAGAGAG AGAGGGCGAGAGAGAGAGGGCGGGCGAGAGAGAGGGGCAGGCGAGAGAGA GGGCGGGGTGAGAGAGAGAGAGGGTGGGCAAGAGAGGAGAGAGAGGGCGG GCAAGAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGAGAGAGGGCGGGC AAGAGAGAGAGTGAGAGGGCGAGAGGGAGAGAGAGGGAGAGGGCGAGAGG GAGAGGGAGAGAAAGAGGGAGAGAAAGAGGGAGAGAAAGAGGGAGAGAAA GAGGGAGAGAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0115 a0004c0009t0001g0115	1	24	0.0417	961	c.371 others(978): Show c.3718+654_3718+655insTTTCTCTCCCTCTTTCTCTCCCTCTTTC TCTCCCTCTTTCTCTCCCTCTTTCTCTCCCTCTCCCTCTCGCCCTCTCCC TCTCTCTCCCTCTCGCCCTCTCACTCTCTCTCTTGCCCGCCCTCTCTCTC TCTCTCTTGCCCGCCCTCTCTCTCTCTCTCTTGCCCGCCCTCTCTCTCCT CTCTTGCCCACCCTCTCTCTCTCTCACCCCGCCCTCTCTCTCGCCTGCCC CTCTCTCTCGCCCGCCCTCTCTCTCTCGCCCTCTCTCTCTCTCGCCCTCG CCCTCTCTCTCTTGCCCACCCTCTCTTTCTCTCGCCCCTCTCTCTCACCT GCCCTCTCTCTCTCACTCGCCCTCTCTCTCTCACTCGCCCTCTCTCACCC GCCCTCTCTCTCGCCCTCTCTCTTGCCCCTTCCCACTTCCCCCTCTCCCC CTCCTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCTCTCCCC CTCCTCCCCCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCCCCCCCTC CCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCT CCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCC CCCCTCTCCCCCTCTCCCCCCTCCTCCACCTCTCCCCCTCTCCCCCTCCT CCCCCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCC CTCTCCCCCTCTCCTTTTCTCTCCCCCTCTCTCCCCCTCCCCCCTCTCTC CCCCTCTCCCCCTCCCCTTCTCTCCCCCTCTCCCCCTCCCCTTCTCTCCC CCCTCTCCCCCTCCCCTTCTCTCCCCCTTGTCTCCCCCTCCCCTTCTCTC CCCCTCTCCCACTCTCTCCCTCCCCTTCTCTCCCCATCCCCTTCTCTCCC CATCCCCTTCTCTCCCCATCCCCTTCTCTCCCC	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar
ROBO2_chr3_77035099_77654964	77322918	A A	ATATATTA others(954): Show ATATATTATGGATAATATAATATATTACATTATATTATGGATAATATAAT ATATTACATTATATTATGGATAATATAATATATTACATTATATTATGGAT AATATAATATATTATATTATATTATGGATAATATAATATATTATATTATA TTATGGATAATATAATATATTATATTATATTATGGATAATATAATATATT ATATTATATTATGGATAATATAATATATTATATTATATTATGGATAATAT AATATATTATATTATATTATGGATAATATAATATAATATATTATATTATG GATAATATAATATATTATATTATATTATGGATAATCTAATATATTATATT ATATTATGGATAATCTAATATATTATATTATATTATGGATAATCTAATAT ATTATATTATATTATGGATAATCTAATATATTATATTATGGATAATCTAA TATATTATATTATGGATAATCTAATATATTATATTATGGATAATCTAATA TATTATATTATGGATAATATAATATATTATATTATGGATAATATAATATA TTATATTATGGATAATATAATATATTATATTATGGATAATATATTATATT ATGGATAATATAATATATTATATTATGGATAATATATTATATTATGGATA ATATAATATATTATATTATGGATAATATATTATATTATGGATAATATAAT ATATTATATTATGGATAATATATTATATTATGGATAATATAATATATTAT ATTATGGATAATATATTATATTATGGATAATATAATATATTATATTATGG ATAATATATTATATTATGGATAATATAATATATTATATTATGGATAATAT ATTATATTATGGATAATATAATATATTATATTATGGATAATATATTATAT TATGGATAATATAATATATTATATTATGGATAATATAATATATTATATTA TGGATAATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0019 a0001c0001t0006g0019	1	133	0.0075	961	c.389 others(982): Show c.389-154470_389-154469insCATTATATTATGGATAATATAATA TATTACATTATATTATGGATAATATAATATATTACATTATATTATGGATA ATATAATATATTATATTATATTATGGATAATATAATATATTATATTATAT TATGGATAATATAATATATTATATTATATTATGGATAATATAATATATTA TATTATATTATGGATAATATAATATATTATATTATATTATGGATAATATA ATATATTATATTATATTATGGATAATATAATATAATATATTATATTATGG ATAATATAATATATTATATTATATTATGGATAATCTAATATATTATATTA TATTATGGATAATCTAATATATTATATTATATTATGGATAATCTAATATA TTATATTATATTATGGATAATCTAATATATTATATTATGGATAATCTAAT ATATTATATTATGGATAATCTAATATATTATATTATGGATAATCTAATAT ATTATATTATGGATAATATAATATATTATATTATGGATAATATAATATAT TATATTATGGATAATATAATATATTATATTATGGATAATATATTATATTA TGGATAATATAATATATTATATTATGGATAATATATTATATTATGGATAA TATAATATATTATATTATGGATAATATATTATATTATGGATAATATAATA TATTATATTATGGATAATATATTATATTATGGATAATATAATATATTATA TTATGGATAATATATTATATTATGGATAATATAATATATTATATTATGGA TAATATATTATATTATGGATAATATAATATATTATATTATGGATAATATA TTATATTATGGATAATATAATATATTATATTATGGATAATATATTATATT ATGGATAATATAATATATTATATTATGGATAATATAATATATTATATTAT GGATAATATATTATATTATGGATAATATAATATATTA	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77322942	T T	TTACATTA others(954): Show TTACATTATATTATGGATAATATAATATATTACATTATATTATGGATAAT ATAATATATTACATTATATTATGGATAATATAATATATTATATTATATTA TGGATAATATAATATATTATATTATATTATGGATAATATAATATATTATA TTATATTATGGATAATATAATATATTATATTATATTATGGATAATATAAT ATATTATATTATATTATGGATAATATAATATATTATATTATATTATGGAT AATATAATATATTATATTATATTATGGATAATATAATATAATATATTATA TTATGGATAATATAATATATTATATTATATTATGGATAATCTAATATATT ATATTATATTATGGATAATCTAATATATTATATTATATTATGGATAATCT AATATATTATATTATATTATGGATAATCTAATATATTATATTATGGATAA TCTAATATATTATATTATGGATAATCTAATATATTATATTATGGATAATC TAATATATTATATTATGGATAATATAATATATTATATTATGGATAATATA ATATATTATATTATGGATAATATAATATATTATATTATGGATAATATATT ATATTATGGATAATATAATATATTATATTATGGATAATATATTATATTAT GGATAATATAATATATTATATTATGGATAATATATTATATTATGGATAAT ATAATATATTATATTATGGATAATATATTATATTATGGATAATATAATAT ATTATATTATGGATAATATATTATATTATGGATAATATAATATATTATAT TATGGATAATATATTATATTATGGATAATATAATATATTATATTATGGAT AATATATTATATTATGGATAATATAATATATTATATTATGGATAATATAT TATATTATGGATAATATAATATATTATATTATGGATAATATAATATATTA TATTATGGATAA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	119	0.0084	961	c.389 others(982): Show c.389-154470_389-154469insCATTATATTATGGATAATATAATA TATTACATTATATTATGGATAATATAATATATTACATTATATTATGGATA ATATAATATATTATATTATATTATGGATAATATAATATATTATATTATAT TATGGATAATATAATATATTATATTATATTATGGATAATATAATATATTA TATTATATTATGGATAATATAATATATTATATTATATTATGGATAATATA ATATATTATATTATATTATGGATAATATAATATATTATATTATATTATGG ATAATATAATATAATATATTATATTATGGATAATATAATATATTATATTA TATTATGGATAATCTAATATATTATATTATATTATGGATAATCTAATATA TTATATTATATTATGGATAATCTAATATATTATATTATATTATGGATAAT CTAATATATTATATTATGGATAATCTAATATATTATATTATGGATAATCT AATATATTATATTATGGATAATCTAATATATTATATTATGGATAATATAA TATATTATATTATGGATAATATAATATATTATATTATGGATAATATAATA TATTATATTATGGATAATATATTATATTATGGATAATATAATATATTATA TTATGGATAATATATTATATTATGGATAATATAATATATTATATTATGGA TAATATATTATATTATGGATAATATAATATATTATATTATGGATAATATA TTATATTATGGATAATATAATATATTATATTATGGATAATATATTATATT ATGGATAATATAATATATTATATTATGGATAATATATTATATTATGGATA ATATAATATATTATATTATGGATAATATATTATATTATGGATAATATAAT ATATTATATTATGGATAATATATTATATTATGGATAATATAATATATTAT ATTATGGATAATATAATATATTATATTATGGATAATA	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
SDK1_chr7_3296252_4274000	3977040	C C	CCACGCAG others(954): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGC TGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGG CTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAG GCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGA GGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTG AGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT GAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGC TGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGG CTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGG GCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGG GGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCG GGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCC GGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCC CGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTC CCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGT CCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGG TCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGG GTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGG GGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0062 a0001c0062	a0001c0062t0053 a0001c0062t0053	a0001c0062t0053g0042 a0001c0062t0053g0042	1	48	0.0208	961	c.199 others(980): Show c.1994+2495_1994+2496insCACGCAGAGGGTCCTCCAGAGAATCA CTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAAT CACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAA TCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGA ATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAG AATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGA GAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAG AGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCA GAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCC AGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTC CAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCT CCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCC TCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTC CTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGT CCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGG TCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGG GTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAG GGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGA GGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SENP7_chr3_101319205_101518212	101439985	T T	TGGGAGGT others(954): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCGGC CCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCC ATCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCG TCCAGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGT CCAGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCTG TCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGG GTCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTAAGGAGCCCCTCTGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCTGGCCA GCCGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0006 a0002c0002t0003g0006	1	105	0.0095	961	c.284 others(980): Show c.284+18969_284+18970insGGACGGGGCGGCTGGCCAGGCAGGGG GGCCGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTTACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCT GGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SENP7_chr3_101319205_101518212	101439985	T T	TGGGAGGT others(954): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCGGC CCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCC ATCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGT CCAGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCTG TCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGG GTCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTAAGGAGCCCCTCTGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCTGGCCA GCCGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01074.hp1 HG02818.hp2 others(5): Show HG00735.hp2 HG01074.hp1 HG02818.hp2 HG03041.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0016 a0002c0002t0003 a0002c0002t0016	a0002c0002t0003g0003 a0002c0002t0003g0031 a0002c0002t0003g0080 others(5): Show a0002c0002t0003g0003 a0002c0002t0003g0031 a0002c0002t0003g0080 a0002c0002t0003g0084 a0002c0002t0003g0088 a0002c0002t0003g0090 a0002c0002t0003g0091 a0002c0002t0016g0004	8	112	0.0714	961	c.284 others(980): Show c.284+18969_284+18970insGGACGGGGCGGCTGGCCAGGCAGGGG GGCCGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTTACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCT GGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SHANK1_chr19_50654255_50724802	50679070	A A	ATGGGGAG others(954): Show ATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGT CAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGG AGGGGTCAAGATGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTG ATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGT CAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGG AGGGGTCAAGATGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTG ATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGT CAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGG GAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGG TGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGG GTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATG GGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAG GGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAG GGGTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGA TGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTC AGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGG AGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGTGTG ATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGT CAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGA GGGGTCAGGGTG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0061 a0001c0003t0001g0061	1	304	0.0033	961	c.257 others(980): Show c.2578-6957_2578-6956insCACCCTGACCCCTCCCCATCACCCTG ACCCCTCCCCACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCA CCCTGACCCCTCCCCATCACCCTGACCCCTCTCCATCACACTGACCCCTC CCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGA CCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATC ACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCT CCCCATCACCCTGACCCCTCTCCATCACACTGACCCCTCCCCATCACCCT GACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCA TCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCC CTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATC TTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCC CATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGAC CCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCA TCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTC CCCACACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCACACCCTGAC CCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCA CCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTC CCCACACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCACACCCTGAC CCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCA CCCTGACCCCTCCCCATCACCCTGACCCCTCCCCA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
TLCD5_chr11_120320299_120338686	120328681	G G	GTGTGTGT others(954): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGC ATACCTGTGTCCTAATCCCTTGTAAGGATAACAGTCATATTGTGTGTGTG TGTGTGTGTGTGCGTGTATGTGTTTGTATATGTATGCATATCTGTGTCCT AATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTATGTTTATGTATGCGTATCTGTGTCCTAATCCCT TCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTGTGTATGTGTTTG TATATGTATGCGTATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATA TTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGTGTATGTGTTTGTATATGT ATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATATCTG TGTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGT GTGTGTGTATGTGTTTGTATATGTATGCGTATCTGTGTCCTAATCCCTTC TAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTATGTGTATGTGTTTG TATATGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATA GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTAT GCATACCTGTGTCCTAATCCCTTGTAAGGATAACAGTCATTTTGTGTGTG TGTGTGTGTGCGTGTATGTTTGTATATGTATGCATATCTGTGTCCTAATC CCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTATGTTTATGTATGCATACCTGTGTCCTAATCCCTTCTAAG GATAACAGTCAT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0213 a0001c0001t0011g0213	1	429	0.0023	961	c.199 others(978): Show c.199+1068_199+1069insGTGTGTGTATGTTTATGTATGCATACCT GTGTCCTAATCCCTTGTAAGGATAACAGTCATATTGTGTGTGTGTGTGTG TGTGTGCGTGTATGTGTTTGTATATGTATGCATATCTGTGTCCTAATCCC TTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTATGTTTATGTATGCGTATCTGTGTCCTAATCCCTTCTAAG GATAACAGTCATATTGTGTGTGTGTGTGTGTGTGTATGTGTTTGTATATG TATGCGTATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGT GTGTGTGTGTGTGTGTGTGTGTGCGTGTATGTGTTTGTATATGTATGCAT ATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATATCTGTGTCCT AATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTGTGTGT GTATGTGTTTGTATATGTATGCGTATCTGTGTCCTAATCCCTTCTAAGGA TAACAGTCATATTGTGTGTGTGTGTGTGTATGTGTATGTGTTTGTATATG TATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATAC CTGTGTCCTAATCCCTTGTAAGGATAACAGTCATTTTGTGTGTGTGTGTG TGTGCGTGTATGTTTGTATATGTATGCATATCTGTGTCCTAATCCCTTCT AAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTATGTTTATGTATGCATACCTGTGTCCTAATCCCTTCTAAGGATAAC AGTCATTGTGTGTGTGTGTGTGTGTGTGTGTGT	TLCD5	ENSG00000181264.9	transcript	ENST00000375095.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
TLCD5_chr11_120320299_120338686	120328773	T T	TGTGTGTG others(954): Show TGTGTGTGTGTGCGTGTATGTGTTTGTATATGTATGCATATCTGTGTCCT AATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTATGTTTATGTATGCGTATCTGTGTCCTAATCCCTTCTAAGGA TAACAGTCATATTGTGTGTGTGTGTGTGTGTGTATGTGTTTGTATATGTA TGCGTATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGT GTGTGTGTGTGTGTGTGTGCGTGTATGTGTTTGTATATGTATGCATATCT GTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATATCTGTGTCCTAA TCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTGTGTGTGT GTGTATGTGTTTGTATATGTATGCGTATCTGTGTCCTAATCCCTTCTAAG GATAACAGTCATATTGTGTGTGTGTGTGTGTATGTGTATGTGTTTGTATA TGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATAC CTGTGTCCTAATCCCTTGTAAGGATAACAGTCATTTTGTGTGTGTGTGTG TGTGCGTGTATGTTTGTATATGTATGCATATCTGTGTCCTAATCCCTTCT AAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTATGTTTATGTATGCATACCTGTGTCCTAATCCCTTCTAAGGATAACAG TCATTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCA TACCTGTGTCCTAATCCCTTGTAAGGATAACAGTCATATTGTGTGTGTGT GTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0195 a0001c0001t0002g0195	1	262	0.0038	961	c.199 others(978): Show c.199+1138_199+1139insTGTGTGCGTGTATGTGTTTGTATATGTA TGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCGTATCTGTGTCC TAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTGTGTA TGTGTTTGTATATGTATGCGTATCTGTGTCCTAATCCCTTCTAAGGATAA CAGTCATATTGTGTGTGTGTGTGTGTGTGTGTGTGCGTGTATGTGTTTGT ATATGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATG CATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGT GTGTGTGTGTGTGTGTGTGTATGTGTTTGTATATGTATGCGTATCTGTGT CCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTATG TGTATGTGTTTGTATATGTATGCATATCTGTGTCCTAATCCCTTCTAAGG ATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAT GTTTATGTATGCATACCTGTGTCCTAATCCCTTGTAAGGATAACAGTCAT TTTGTGTGTGTGTGTGTGTGCGTGTATGTTTGTATATGTATGCATATCTG TGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTATGTTTATGTATGCATACCTGTGTCCTAATCC CTTCTAAGGATAACAGTCATTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TATGTTTATGTATGCATACCTGTGTCCTAATCCCTTGTAAGGATAACAGT CATATTGTGTGTGTGTGTGTGTGTGCGCGTGTG	TLCD5	ENSG00000181264.9	transcript	ENST00000375095.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
TLCD5_chr11_120320299_120338686	120328773	T T	TGTGTGTG others(954): Show TGTGTGTGTGTGCGTGTATGTGTTTGTATATGTATGCATATCTGTGTCCT AATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTATGTTTATGTATGCGTATCTGTGTCCTAATCCCTTCTAAGGA TAACAGTCATATTGTGTGTGTGTGTGTGTGTGTATGTGTTTGTATATGTA TGCGTATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGT GTGTGTGTGTGTGTGTGTGCGTGTATGTGTTTGTATATGTATGCATATCT GTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATATCTGTGTCCT AATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTGTGTGT GTGTATGTGTTTGTATATGTATGCGTATCTGTGTCCTAATCCCTTCTAAG GATAACAGTCATATTGTGTGTGTGTGTGTGTATGTGTATGTGTTTGTATA TGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATAC CTGTGTCCTAATCCCTTGTAAGGATAACAGTCATTTTGTGTGTGTGTGTG TGTGCGTGTATGTTTGTATATGTATGCATATCTGTGTCCTAATCCCTTCT AAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTATGTTTATGTATGCATACCTGTGTCCTAATCCCTTCTAAGGATAACAG TCATTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCA TACCTGTGTCCTAATCCCTTGTAAGGATAACAGTCATATTGTGTGTGTGT GTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0196 a0001c0001t0002g0196	1	262	0.0038	961	c.199 others(978): Show c.199+1138_199+1139insTGTGTGCGTGTATGTGTTTGTATATGTA TGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCGTATCTGTGTCC TAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTGTGTA TGTGTTTGTATATGTATGCGTATCTGTGTCCTAATCCCTTCTAAGGATAA CAGTCATATTGTGTGTGTGTGTGTGTGTGTGTGTGCGTGTATGTGTTTGT ATATGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTA TGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGT GTGTGTGTGTGTGTGTGTGTATGTGTTTGTATATGTATGCGTATCTGTGT CCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTATG TGTATGTGTTTGTATATGTATGCATATCTGTGTCCTAATCCCTTCTAAGG ATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAT GTTTATGTATGCATACCTGTGTCCTAATCCCTTGTAAGGATAACAGTCAT TTTGTGTGTGTGTGTGTGTGCGTGTATGTTTGTATATGTATGCATATCTG TGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTATGTTTATGTATGCATACCTGTGTCCTAATCC CTTCTAAGGATAACAGTCATTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TATGTTTATGTATGCATACCTGTGTCCTAATCCCTTGTAAGGATAACAGT CATATTGTGTGTGTGTGTGTGTGTGCGCGTGTG	TLCD5	ENSG00000181264.9	transcript	ENST00000375095.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
TLCD5_chr11_120320299_120338686	120328773	T T	TGTGTGTG others(954): Show TGTGTGTGTGTGCGTGTATGTGTTTGTATATGTATGCATATCTGTGTCCT AATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTATGTTTATGTATGCGTATCTGTGTCCTAATCCCTTCTAAGGA TAACAGTCATATTGTGTGTGTGTGTGTGTGTGTATGTGTTTGTATATGTA TGCGTATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGT GTGTGTGTGTGTGTGTGTGTGCGTGTATGTGTTTGTATATGTATGCATAT CTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATATCTGTGTCCTAATC CCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTGTGTGTGTGT ATGTGTTTGTATATGTATGCGTATCTGTGTCCTAATCCCTTCTAAGGATA ACAGTCATATTGTGTGTGTGTGTGTGTATGTGTATGTGTTTGTATATGTA TGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATAC CTGTGTCCTAATCCCTTGTAAGGATAACAGTCATTTTGTGTGTGTGTGTG TGTGCGTGTATGTTTGTATATGTATGCATATCTGTGTCCTAATCCCTTCT AAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTATGTTTATGTATGCATACCTGTGTCCTAATCCCTTCTAAGGATAAC AGTCATTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCA TACCTGTGTCCTAATCCCTTGTAAGGATAACAGTCATATTGTGTGTGTGT GTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0197 a0001c0001t0002g0197	1	262	0.0038	961	c.199 others(978): Show c.199+1138_199+1139insTGTGTGCGTGTATGTGTTTGTATATGTA TGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCGTATCTGTGTCC TAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTGTGTA TGTGTTTGTATATGTATGCGTATCTGTGTCCTAATCCCTTCTAAGGATAA CAGTCATATTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGTGTATGTGTTT GTATATGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCAT AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCA TATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGT GTGTGTGTGTGTGTGTATGTGTTTGTATATGTATGCGTATCTGTGTCCTA ATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTATGTGTA TGTGTTTGTATATGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAA CAGTCATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAT GTTTATGTATGCATACCTGTGTCCTAATCCCTTGTAAGGATAACAGTCAT TTTGTGTGTGTGTGTGTGTGCGTGTATGTTTGTATATGTATGCATATCTG TGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATACCTGTGTCCTAAT CCCTTCTAAGGATAACAGTCATTGTGTGTGTGTGTGTGTGTGTGTGTGTG TATGTTTATGTATGCATACCTGTGTCCTAATCCCTTGTAAGGATAACAGT CATATTGTGTGTGTGTGTGTGTGTGCGCGTGTG	TLCD5	ENSG00000181264.9	transcript	ENST00000375095.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
TLCD5_chr11_120320299_120338686	120328773	T T	TGTGTGTG others(954): Show TGTGTGTGTGTGCGTGTATGTGTTTGTATATGTATGCATATCTGTGTCCT AATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTATGTTTATGTATGCGTATCTGTGTCCTAATCCCTTCTAAGGA TAACAGTCATATTGTGTGTGTGTGTGTGTGTGTATGTGTTTGTATATGTA TGCGTATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGT GTGTGTGTGTGTGTGTGTGTGCGTGTATGTGTTTGTATATGTATGCATAT CTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATATCTGTGTCCT AATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTGTGTGT GTGTATGTGTTTGTATATGTATGCGTATCTGTGTCCTAATCCCTTCTAAG GATAACAGTCATATTGTGTGTGTGTGTGTGTATGTGTATGTGTTTGTATA TGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCAT ACCTGTGTCCTAATCCCTTGTAAGGATAACAGTCATTTTGTGTGTGTGTG TGTGTGCGTGTATGTTTGTATATGTATGCATATCTGTGTCCTAATCCCTT CTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTATGTTTATGTATGCATACCTGTGTCCTAATCCCTTCTAAGGATAAC AGTCATTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCA TACCTGTGTCCTAATCCCTTGTAAGGATAACAGTCATATTGTGTGTGTGT GTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0260 a0001c0001t0002g0260	1	262	0.0038	961	c.199 others(978): Show c.199+1138_199+1139insTGTGTGCGTGTATGTGTTTGTATATGTA TGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCGTATCTGTGTCC TAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTGTGTA TGTGTTTGTATATGTATGCGTATCTGTGTCCTAATCCCTTCTAAGGATAA CAGTCATATTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGTGTATGTGTTT GTATATGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCAT AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTA TGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGT GTGTGTGTGTGTGTGTGTGTATGTGTTTGTATATGTATGCGTATCTGTGT CCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTATG TGTATGTGTTTGTATATGTATGCATATCTGTGTCCTAATCCCTTCTAAGG ATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT ATGTTTATGTATGCATACCTGTGTCCTAATCCCTTGTAAGGATAACAGTC ATTTTGTGTGTGTGTGTGTGTGCGTGTATGTTTGTATATGTATGCATATC TGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATACCTGTGTCCTAAT CCCTTCTAAGGATAACAGTCATTGTGTGTGTGTGTGTGTGTGTGTGTGTG TATGTTTATGTATGCATACCTGTGTCCTAATCCCTTGTAAGGATAACAGT CATATTGTGTGTGTGTGTGTGTGTGCGCGTGTG	TLCD5	ENSG00000181264.9	transcript	ENST00000375095.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
TLCD5_chr11_120320299_120338686	120328773	T T	TGTGTGTG others(954): Show TGTGTGTGTGTGCGTGTATGTGTTTGTATATGTATGCATATCTGTGTCCT AATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTATGTTTATGTATGCGTATCTGTGTCCTAATCCCTTCTAAGGA TAACAGTCATATTGTGTGTGTGTGTGTGTGTGTATGTGTTTGTATATGTA TGCGTATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGT GTGTGTGTGTGTGTGTGTGTGCGTGTATGTGTTTGTATATGTATGCATAT CTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATATCTGTGTCCT AATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTGTGTGT GTGTATGTGTTTGTATATGTATGCGTATCTGTGTCCTAATCCCTTCTAAG GATAACAGTCATATTGTGTGTGTGTGTGTGTATGTGTATGTGTTTGTATA TGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGC ATACCTGTGTCCTAATCCCTTGTAAGGATAACAGTCATTTTGTGTGTGTG TGTGTGTGCGTGTATGTTTGTATATGTATGCATATCTGTGTCCTAATCCC TTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTATGTTTATGTATGCATACCTGTGTCCTAATCCCTTCTAAGGA TAACAGTCATTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGCA TACCTGTGTCCTAATCCCTTGTAAGGATAACAGTCATATTGTGTGTGTGT GTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0200 a0001c0001t0002g0200	1	262	0.0038	961	c.199 others(978): Show c.199+1138_199+1139insTGTGTGCGTGTATGTGTTTGTATATGTA TGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCGTATCTGTGTCC TAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTGTGTA TGTGTTTGTATATGTATGCGTATCTGTGTCCTAATCCCTTCTAAGGATAA CAGTCATATTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGTGTATGTGTTT GTATATGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCAT AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTA TGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGT GTGTGTGTGTGTGTGTGTGTATGTGTTTGTATATGTATGCGTATCTGTGT CCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTATG TGTATGTGTTTGTATATGTATGCATATCTGTGTCCTAATCCCTTCTAAGG ATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTATGTTTATGTATGCATACCTGTGTCCTAATCCCTTGTAAGGATAACAG TCATTTTGTGTGTGTGTGTGTGTGCGTGTATGTTTGTATATGTATGCATA TCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATACCTGTGTCC TAATCCCTTCTAAGGATAACAGTCATTGTGTGTGTGTGTGTGTGTGTGTG TGTGTATGTTTATGCATACCTGTGTCCTAATCCCTTGTAAGGATAACAGT CATATTGTGTGTGTGTGTGTGTGTGCGCGTGTG	TLCD5	ENSG00000181264.9	transcript	ENST00000375095.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
TLCD5_chr11_120320299_120338686	120328773	T T	TGTGTGTG others(954): Show TGTGTGTGTGTGCGTGTATGTGTTTGTATATGTATGCATATCTGTGTCCT AATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTATGTTTATGTATGCGTATCTGTGTCCTAATCCCTTCTAAG GATAACAGTCATATTGTGTGTGTGTGTGTGTGTGTATGTGTTTGTATATG TATGCGTATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGT GTGTGTGTGTGTGTGTGTGTGTGCGTGTATGTGTTTGTATATGTATGCAT ATCTGTGTCCTAATCCCTTCCAAGGATAACAGTCATAGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATATCTGTG TCCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTGT GTGTGTATGTGTTCGTATATGTATGCGTATCTGTGTCCTAATCCCTTCTA AGGATAACAGTCATATTGTGTGTGTGTGTGTGTATGTGTATGTGTTTGTA TATGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATAC CTGTGTCCTAATCCCTTGTAAGGATAACAGTCATTTTGTGTGTGTGTGTG TGTGCGTGTATGTTTGTATATGTATGCATATCTGTGTCCTAATCCCTTCT AAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTATGTTTATGTATGCATACCTGTGTCCTAATCCCTTCTAAGGATAAC AGTCATTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCA TACCTGTGTCCTAATCCCTTGTAAGGATAACAGTCATATTGTGTGTGTGT GTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0176 a0001c0001t0002g0176	1	262	0.0038	961	c.199 others(978): Show c.199+1138_199+1139insTGTGTGCGTGTATGTGTTTGTATATGTA TGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCGTATCTGTGT CCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTGTG TATGTGTTTGTATATGTATGCGTATCTGTGTCCTAATCCCTTCTAAGGAT AACAGTCATATTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGTGTATGTGT TTGTATATGTATGCATATCTGTGTCCTAATCCCTTCCAAGGATAACAGTC ATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTA TGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATATTGT GTGTGTGTGTGTGTGTGTGTGTATGTGTTCGTATATGTATGCGTATCTGT GTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTA TGTGTATGTGTTTGTATATGTATGCATATCTGTGTCCTAATCCCTTCTAA GGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAT GTTTATGTATGCATACCTGTGTCCTAATCCCTTGTAAGGATAACAGTCAT TTTGTGTGTGTGTGTGTGTGCGTGTATGTTTGTATATGTATGCATATCTG TGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATACCTGTGTCCTAAT CCCTTCTAAGGATAACAGTCATTGTGTGTGTGTGTGTGTGTGTGTGTGTG TATGTTTATGTATGCATACCTGTGTCCTAATCCCTTGTAAGGATAACAGT CATATTGTGTGTGTGTGTGTGTGTGCGCGTGTG	TLCD5	ENSG00000181264.9	transcript	ENST00000375095.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
TLCD5_chr11_120320299_120338686	120328773	T T	TGTGTGTG others(954): Show TGTGTGTGTGTGCGTGTATGTGTTTGTATATGTATGCATATCTGTGTCCT AATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTATGTTTATGTATGCGTATCTGTGTCCTAATCCCTTCTAAG GATAACAGTCATATTGTGTGTGTGTGTGTGTGTGTATGTGTTTGTATATG TATGCGTATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGT GTGTGTGTGTGTGTGTGTGTGTGCGTGTATGTGTTTGTATATGTATGCAT ATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATATCTGTGTCCT AATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTGTGTGT ATGTGTTTGTATATGTATGCGTATCTGTGTCCTAATCCCTTCTAAGGATA ACAGTCATATTGTGTGTGTGTGTGTGTATGTGTATGTGTTTGTATATGTA TGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATAC CTGTGTCCTAATCCCTTGTAAGGATAACAGTCATTTTGTGTGTGTGTGTG TGTGCGTGTATGTTTGTATATGTATGCATATCTGTGTCCTAATCCCTTCT AAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTATGTTTATGTATGCATACCTGTGTCCTAATCCCTTCTAAGGATAAC AGTCATTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCA TACCTGTGTCCTAATCCCTTGTAAGGATAACAGTCATATTGTGTGTGTGT GTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0178 a0001c0001t0024g0178	1	262	0.0038	961	c.199 others(978): Show c.199+1138_199+1139insTGTGTGCGTGTATGTGTTTGTATATGTA TGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCGTATCTGTGT CCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTGTG TATGTGTTTGTATATGTATGCGTATCTGTGTCCTAATCCCTTCTAAGGAT AACAGTCATATTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGTGTATGTGT TTGTATATGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTC ATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTA TGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGT GTGTGTGTGTGTGTGTATGTGTTTGTATATGTATGCGTATCTGTGTCCTA ATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTATGTGTA TGTGTTTGTATATGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAA CAGTCATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAT GTTTATGTATGCATACCTGTGTCCTAATCCCTTGTAAGGATAACAGTCAT TTTGTGTGTGTGTGTGTGTGCGTGTATGTTTGTATATGTATGCATATCTG TGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATACCTGTGTCCTAAT CCCTTCTAAGGATAACAGTCATTGTGTGTGTGTGTGTGTGTGTGTGTGTG TATGTTTATGTATGCATACCTGTGTCCTAATCCCTTGTAAGGATAACAGT CATATTGTGTGTGTGTGTGTGTGTGCGCGTGTG	TLCD5	ENSG00000181264.9	transcript	ENST00000375095.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
TLCD5_chr11_120320299_120338686	120328773	T T	TGTGTGTG others(954): Show TGTGTGTGTGTGCGTGTATGTGTTTGTATATGTATGCATATCTGTGTCCT AATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTATGTTTATGTATGCGTATCTGTGTCCTAATCCCTTCTAAG GATAACAGTCATATTGTGTGTGTGTGTGTGTGTGTATGTGTTTGTATATG TATGCGTATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGT GTGTGTGTGTGTGTGTGTGTGTGCGTGTATGTGTTTGTATATGTATGCAT ATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATATCTGTG TCCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTGT GTGTGTATGTGTTTGTATATGTATGCGTATCTGTGTCCTAATCCCTTCTA AGGATAACAGTCATATTGTGTGTGTGTGTGTGTATGTGTATGTGTTTGTA TATGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGC ATACCTGTGTCCTAATCCCTTGTAAGGATAACAGTCATTTTGTGTGTGTG TGTGTGTGCGTGTATGTTTGTATATGTATGCATATCTGTGTCCTAATCCC TTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTATGTTTATGTATGCATACCTGTGTCCTAATCCCTTCTAAGGATAAC AGTCATTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCA TACCTGTGTCCTAATCCCTTGTAAGGATAACAGTCATATTGTGTGTGTGT GTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0183 a0001c0001t0002g0183	1	262	0.0038	961	c.199 others(978): Show c.199+1138_199+1139insTGTGTGCGTGTATGTGTTTGTATATGTA TGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCGTATCTGTGT CCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTGTG TATGTGTTTGTATATGTATGCGTATCTGTGTCCTAATCCCTTCTAAGGAT AACAGTCATATTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGTGTATGTGT TTGTATATGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTC ATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTA TGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATATTGT GTGTGTGTGTGTGTGTGTGTGTATGTGTTTGTATATGTATGCGTATCTGT GTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTA TGTGTATGTGTTTGTATATGTATGCATATCTGTGTCCTAATCCCTTCTAA GGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTATGTTTATGTATGCATACCTGTGTCCTAATCCCTTGTAAGGATAACAG TCATTTTGTGTGTGTGTGTGTGTGCGTGTATGTTTGTATATGTATGCATA TCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATACCTGTGTCCTAAT CCCTTCTAAGGATAACAGTCATTGTGTGTGTGTGTGTGTGTGTGTGTGTG TATGTTTATGTATGCATACCTGTGTCCTAATCCCTTGTAAGGATAACAGT CATATTGTGTGTGTGTGTGTGTGTGCGCGTGTG	TLCD5	ENSG00000181264.9	transcript	ENST00000375095.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
TLCD5_chr11_120320299_120338686	120328773	T T	TGTGTGTG others(954): Show TGTGTGTGTGTGCGTGTATGTGTTTGTATATGTATGCATATCTGTGTCCT AATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTATGTTTATGTATGCGTATCTGTGTCCTAATCCCTTCTAAG GATAACAGTCATATTGTGTGTGTGTGTGTGTGTGTATGTGTTTGTATATG TATGCGTATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTTTGTATATGTATGCATAT CTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATATCTGTGTCCT AATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTGTGTGT GTATGTGTTTGTATATGTATGCGTATCTGTGTCCTAATCCCTTCTAAGGA TAACAGTCATATTGTGTGTGTGTGTGTGTATGTGTATGTGTTTGTATATG TATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCAT ACCTGTGTCCTAATCCCTTGTAAGGATAACAGTCATTTTGTGTGTGTGTG TGTGTGCGTGTATGTTTGTATATGTATGCATATCTGTGTCCTAATCCCTT CTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTATGTTTATGTATGCATACCTGTGTCCTAATCCCTTCTAAGGATAAC AGTCATTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCA TACCTGTGTCCTAATCCCTTGTAAGGATAACAGTCATATTGTGTGTGTGT GTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0185 a0001c0001t0002g0185	1	262	0.0038	961	c.199 others(978): Show c.199+1138_199+1139insTGTGTGCGTGTATGTGTTTGTATATGTA TGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCGTATCTGTGT CCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTGTG TATGTGTTTGTATATGTATGCGTATCTGTGTCCTAATCCCTTCTAAGGAT AACAGTCATATTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTTT GTATATGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCAT AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTA TGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGT GTGTGTGTGTGTGTGTGTATGTGTTTGTATATGTATGCGTATCTGTGTCC TAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTATGTG TATGTGTTTGTATATGTATGCATATCTGTGTCCTAATCCCTTCTAAGGAT AACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT ATGTTTATGTATGCATACCTGTGTCCTAATCCCTTGTAAGGATAACAGTC ATTTTGTGTGTGTGTGTGTGTGCGTGTATGTTTGTATATGTATGCATATC TGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATACCTGTGTCCTAAT CCCTTCTAAGGATAACAGTCATTGTGTGTGTGTGTGTGTGTGTGTGTGTG TATGTTTATGTATGCATACCTGTGTCCTAATCCCTTGTAAGGATAACAGT CATATTGTGTGTGTGTGTGTGTGTGCGCGTGTG	TLCD5	ENSG00000181264.9	transcript	ENST00000375095.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
ATG10_chr5_81967023_82261133	82139976	A A	AGGGAGGT others(955): Show AGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGAGGGTCA GCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCACCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC TGTCCGGGAGGTGAGGGGCACCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGAGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCACCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGC CGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGTGTCAGCCCCCTGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCTGCCCGGCCAGC CGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCC AGCCGCCCCATCCGGGAGGGAGGTGCGGGGGGTCAGCCCTCCGCCCGGCC AGCCGCCCCGTCG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03453.hp1 HG02970.hp1 HG03453.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0015 a0002c0002t0004 a0002c0002t0015	a0002c0002t0004g0211 a0002c0002t0015g0210 a0002c0002t0004g0211 a0002c0002t0015g0210	2	218	0.0092	962	c.217 others(981): Show c.217-24320_217-24319insCCCGCCCGGCCAGCCGCCCTGTCCGG GAGGTGAGGGGCACCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCACCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGAGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGT CCGGGAGGTGAGGGGCACCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCA GCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTC AGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGC CCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGCGGGG GGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCGGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGAGGGTCAGCCC	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
CACNA1B_chr9_137872782_138129619	138018896	C C	CCAGGTGC others(955): Show CCAGGTGCAGTTAGGCCACCTGCCCTGACGGAAGTGGCCAGGTGCAGTTA GGCCACCTGCCCTGACGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCT GACGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGACGGAAGTGGCC AGGTGCAGTTAGGCCACCTGCCCTGACGGAAGTGGCCAGGTGCAGTTAGG CCACCTGCCCTGACGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGA CGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGACGGAAGTGGCCAG GTGCAGTTAGGACACCTGCCCTGACGGAAGTGGCCAGGTGCAGTTAGGCC ACCTGCCCTGACGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGACG GAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGACGGAAGTGGCCAGGT GCAGTTAGGACACCTGCCCTGACGGAAGTGGCCAGGTGCAGTTAGGACAC CTGCCCTGACGGAAGTGGCCAGGTGCAGTTAGGACACCTGCCCTGACGGA AGTGGCCAGGTGCAGTTAGGACACCTGCCCTGACGGAAGTGGCCAGGTGC AGTTAGGACACCTGCCCTGACGGAAGTGGCCAGGTGCAGTTAGGCCACCT GCCCTGACGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGACGGAAG TGGCCAGGTGCAGTTAGGCCACCTGCCCTGACGGAAGTGGCCAGGTGCAG TTAGGCCACCTGCCCTGACGGAAGTGGCCAGGTGCAGTTAGGCCACCTGC CCTGACGGAAGTGGTCAGGTGCAGTTAGGCCACCTGCCCTGACGGAAGTG GTCAGGTGCAGTTAGGCCACCTGCCCTGACGGAAGTGGCCAGGTGCAGTT AGGCCACCTGCCCTGACGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCC TGACGGAAGTGGT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0004 a0004	a0004c0041 a0004c0041	a0004c0041t0009 a0004c0041t0009	a0004c0041t0009g0078 a0004c0041t0009g0078	1	245	0.0041	962	c.226 others(981): Show c.2268-4088_2268-4087insCGGAAGTGGCCAGGTGCAGTTAGGCC ACCTGCCCTGACGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGACG GAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGACGGAAGTGGCCAGGT GCAGTTAGGCCACCTGCCCTGACGGAAGTGGCCAGGTGCAGTTAGGCCAC CTGCCCTGACGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGACGGA AGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGACGGAAGTGGCCAGGTGC AGTTAGGACACCTGCCCTGACGGAAGTGGCCAGGTGCAGTTAGGCCACCT GCCCTGACGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGACGGAAG TGGCCAGGTGCAGTTAGGCCACCTGCCCTGACGGAAGTGGCCAGGTGCAG TTAGGACACCTGCCCTGACGGAAGTGGCCAGGTGCAGTTAGGACACCTGC CCTGACGGAAGTGGCCAGGTGCAGTTAGGACACCTGCCCTGACGGAAGTG GCCAGGTGCAGTTAGGACACCTGCCCTGACGGAAGTGGCCAGGTGCAGTT AGGACACCTGCCCTGACGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCC TGACGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGACGGAAGTGGC CAGGTGCAGTTAGGCCACCTGCCCTGACGGAAGTGGCCAGGTGCAGTTAG GCCACCTGCCCTGACGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTG ACGGAAGTGGTCAGGTGCAGTTAGGCCACCTGCCCTGACGGAAGTGGTCA GGTGCAGTTAGGCCACCTGCCCTGACGGAAGTGGCCAGGTGCAGTTAGGC CACCTGCCCTGACGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGAC GGAAGTGGTCAGGTGCAGTTAGGCCACCTGCCCTGA	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC77_chr12_396644_447642	420937	A A	ACACACAT others(955): Show ACACACATAGCAGCACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGT GTGTGCTGGGAGTGAGAGGGTAAATACACACATAGCAGCACCCTCCATGC TCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAT ACACACATAGCAGCACACTCCATGTTCCATTACAGTGCACTTCTGTGTGT GTGTGCTGGGAGTGAGAGGGTAAATACACACATAGCAGCACCCTCCATGT TCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAT ACACACATAGCAGCACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGT GTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGTTC CATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACAC ACATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGT GCTGGGAGTGAGAGGGTAAAACACACATAGCAGCACCCTCCATGTTCCAT TACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACA TAGCAGCACACTCCATGCTCCATTACAGTGCTCTTCTGTGTGTGTGTGCT GGGAGTGAGAGGGTAAAACACACATAGCAGCACCCTCCATGTTCCATTAC AGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATA GCAGCACCCTCCATGTTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGG GAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGTTCCATTACAGT GCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAG CACACTCCATGTTCCATTACAGTGCGCTTCTGTGTGTGTGTGCTGGGAGT GAGAGGGTAAAAT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	202	0.0050	962	c.413 others(979): Show c.413+2301_413+2302insCACACATAGCAGCACCCTCCATGCTCCA TTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATACAC ACATAGCAGCACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGT GCTGGGAGTGAGAGGGTAAATACACACATAGCAGCACACTCCATGTTCCA TTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATACAC ACATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGT GCTGGGAGTGAGAGGGTAAATACACACATAGCAGCACCCTCCATGCTCCA TTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACAC ATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGC TGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGTTCCATTAC AGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAACACACATA GCAGCACCCTCCATGTTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGG GAGTGAGAGGGTAAACACACATAGCAGCACACTCCATGCTCCATTACAGT GCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAACACACATAGCA GCACCCTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAG TGAGAGGGTAAAATACACATAGCAGCACCCTCCATGTTCCATTACAGTGC TCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCA CCCTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGA GAGGGTAAACACACATAGCAGCACACTCCATGTTCCATTACAGTGCGCTT CTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAAT	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12			chr12	TogoVar
CCDC88C_chr14_91266323_91422820	91293103	G G	GGTCCACC others(955): Show GGTCCACCTTCCTGTCCCCTCACCTGCCACAGCCCACCTTCCTGTCCCCT CGCCTGCCACAGCTGACCTTCCTGTCCCCTCGCCTGCCACGGCCCACCTT CCTGTCCCCTCACCTGCCACAGCCCACCTTCCTGTCCCCTCACCTGCCAC AGCCCACCTTCCCGTCCTCACCTGCCACGGTCCACCTTCCCATCCTCACC TGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACTTTCCCATC CTCACGTGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTT CCCATCCTCACGTGCCACAGCTCACCTTCCTATCCTCACCTGCCACAGCT CACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCC ACAGCTCACCTTCCCATCCTCACCTGCCACAGCTCACCTTCCCATCCTCA CCTGCCACAGCTCACCTTCCCATCCTCACCTGCCACAGCTCACCTTCCCA TCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCTGCCACAGCTCACC TTCCCATCCTCACCTGCCACAGCTCACCTTCCCATCCTCACCTGCCACAG CTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCTG CCACAGCTCACCTTCCCATCCTCACCTGCCACAGCTCACCTTCCCATCCT CACCTGCCACAGCTCACCTTCCCATCCTCACCTGCCACAGCTCACCTTCC CATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCTGCCACAGCTCA CCTTCCCATCCTCACCTGCCACAGCTCACCTTCCCATCCTCACCTGCCAC AGCTCACCTTCCCATCCTCACCTGCCACAGCTCACCTTCCCATCCTCACC TGCCACAGCTCACCTTCCCATCCTCACCTGCCACAGCTCACCTTCCCATC CTCACCTGCCACA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0008 a0008	a0008c0040 a0008c0040	a0008c0040t0010 a0008c0040t0010	a0008c0040t0010g0054 a0008c0040t0010g0054	1	281	0.0036	962	c.411 others(981): Show c.4112+1069_4112+1070insTGTGGCAGGTGAGGATGGGAAGGTGA GCTGTGGCAGGTGAGGATGGGAAGGTGAGCTGTGGCAGGTGAGGATGGGA AGGTGAGCTGTGGCAGGTGAGGATGGGAAGGTGAGCTGTGGCAGGTGAGG ATGGGAAGGTGAGCTGTGGCAGGTGAGGATGGGAAGGTGAGCTGTGGCAG GTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTG TGGCAGGTGAGGATGGGAAGGTGAGCTGTGGCAGGTGAGGATGGGAAGGT GAGCTGTGGCAGGTGAGGATGGGAAGGTGAGCTGTGGCAGGTGAGGATGG GAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCAGGTGA GGATGGGAAGGTGAGCTGTGGCAGGTGAGGATGGGAAGGTGAGCTGTGGC AGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGC TGTGGCAGGTGAGGATGGGAAGGTGAGCTGTGGCAGGTGAGGATGGGAAG GTGAGCTGTGGCAGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGAT GGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCAGGT GAGGATAGGAAGGTGAGCTGTGGCACGTGAGGATGGGAAGGTGAGCTGTG GCGGGTGAGGATGGGAAGGTGAGCTGTGGCACGTGAGGATGGGAAAGTGA GCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCAGGTGAGGATGGGA AGGTGGACCGTGGCAGGTGAGGACGGGAAGGTGGGCTGTGGCAGGTGAGG GGACAGGAAGGTGGGCTGTGGCAGGTGAGGGGACAGGAAGGTGGGCCGTG GCAGGCGAGGGGACAGGAAGGTCAGCTGTGGCAGGCGAGGGGACAGGAAG GTGGGCTGTGGCAGGTGAGGGGACAGGAAGGTGGAC	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CFAP61_chr20_20047532_20365698	20320494	A A	AATGTATA others(955): Show AATGTATATTACATATATTATATATGCAATATATATTATATATATTATAT ATGCAATATATATTATATATATTATATATGCAATATATATTATATATGCA ATATATATTATATATATTATATATGCAATATATATTATATATATTACATA TGTAATATATATTATATATGTAATATATAATATATTACATATGTAATATA TAATATATATTACATATGTAATATATAATATATATTACATATGTAATATA TAATATATATTACATATGTAATATATAATATATATTACATATGTAATATA TATTATATATTACATATGTAATATATTATATATTACATATGTAATATATT ATATATTACATATGTAATATATATAATATATTACATATGTAATATATATT ACATATATAATATATATAATATATATGTAATATATTATATATATTATATA TGTAATATATATTACATATATAATATATATTATATATATTACATATATTA TATATGTAATATATATTACATATGTAATATATGTAATATATATTACATAT GTAATATATATTATATATGTAATATATATTACATATATTATATATGTAAT ATATATTATATATATTATATATGTAATGTATAATATATATATTATATATG TAATATATATTATATATAATATATGTAATATATATTATATATGTAATGTA TATTATATATATTATATATGTAATGTATATTATATATATTATATATGTAA TGTATATTATATATAATATATGTAATGTATATTATATATGTAATATATAT TATATATATTATATATGTAATATATATTATATATATTATATATGTAATAT ATATTATATATATTATATATGTAATATATATTATATATATTATATATGTA ATATATATTATATATATTATATATGTAATATATATTATATATATTATATA TGTAATATATATT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0175 a0001c0003t0003g0175	1	211	0.0047	962	c.342 others(983): Show c.3423-21335_3423-21334insGTATATTACATATATTATATATGC AATATATATTATATATATTATATATGCAATATATATTATATATATTATAT ATGCAATATATATTATATATGCAATATATATTATATATATTATATATGCA ATATATATTATATATATTACATATGTAATATATATTATATATGTAATATA TAATATATTACATATGTAATATATAATATATATTACATATGTAATATATA ATATATATTACATATGTAATATATAATATATATTACATATGTAATATATA ATATATATTACATATGTAATATATATTATATATTACATATGTAATATATT ATATATTACATATGTAATATATTATATATTACATATGTAATATATATAAT ATATTACATATGTAATATATATTACATATATAATATATATAATATATATG TAATATATTATATATATTATATATGTAATATATATTACATATATAATATA TATTATATATATTACATATATTATATATGTAATATATATTACATATGTAA TATATGTAATATATATTACATATGTAATATATATTATATATGTAATATAT ATTACATATATTATATATGTAATATATATTATATATATTATATATGTAAT GTATAATATATATATTATATATGTAATATATATTATATATAATATATGTA ATATATATTATATATGTAATGTATATTATATATATTATATATGTAATGTA TATTATATATATTATATATGTAATGTATATTATATATAATATATGTAATG TATATTATATATGTAATATATATTATATATATTATATATGTAATATATAT TATATATATTATATATGTAATATATATTATATATATTATATATGTAATAT ATATTATATATATTATATATGTAATATATATTATATATATTATATATGTA ATATATATTATATATATTATATATGTAATATATATTAT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CNST_chr1_246561456_246673595	246613656	T T	TCTCTCCC others(955): Show TCTCTCCCCCCCTCTCTCCCTCTCCCTCACCTCCTCTCTCTCTCCCCCTC TCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTCTCCCTCCCCCTCCC TCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCATCCCCCTCCCCCTCT CTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCCCTTCCCCTCTCCCCC TGTCTCCCCTCTCCTTCTCTCCCTCTCCTCACATCCTCTCTCTCCCCCTC TCCCCCTCTCCCTCTCCCCCCCTCCCCTCTCTCCCTCTCCCTCACGTCCT CTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCCCCCTCTCCCC CTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCCCTCACGTCCT CTCTCTCTCCCCCTCCCCCTTTCTTCCTCTCCCCCTCTCCCTCTCTACCT CTCCCCCTCTCCCTCTCCCCGTCTCCCTCTCTCCCTCGTCCTCTCGTCCT CTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGTCCCTCTCTCCCT CTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTCTCCCTCTCCCCCT CTCTCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCTGCCTCTCCTCCTCTC CCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCCTCTTTCCCTCTCCCCATC TCCCTCTCCCCCCCTCTCTCCCTCTCCCACCCTCTTCCTCTCCCTCTCCC TTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTCCCCCTC TTCTCCTCTCCCCCTCTCCCCCCTCCCCTCTCCTCCTCTCCCTCTCTCCC TGTCCCCCCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTCCCCCCTTC TCCTCTCCCCCTCTCCCCCTCCCTCTCTCCCTCTCTCCCCCTCCCCCTCC CTCTCCCCCTCCC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	6	0.1667	962	c.380 others(979): Show c.380-7767_380-7766insCCCCCTCTCTCCCTCTCCCTCACCTCCT CTCTCTCTCCCCCTCTCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCT CTCCCTCCCCCTCCCTCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCA TCCCCCTCCCCCTCTCTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCC CTTCCCCTCTCCCCCTGTCTCCCCTCTCCTTCTCTCCCTCTCCTCACATC CTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCCCCCCTCCCCTCTCTCCC TCTCCCTCACGTCCTCTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTCC TCTCCCCCTCTCCCCCTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCC TCTCCCTCACGTCCTCTCTCTCTCCCCCTCCCCCTTTCTTCCTCTCCCCC TCTCCCTCTCTACCTCTCCCCCTCTCCCTCTCCCCGTCTCCCTCTCTCCC TCGTCCTCTCGTCCTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCTCC TGTCCCTCTCTCCCTCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCCTC TCTCCCTCTCCCCCTCTCTCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCT GCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCCTCT TTCCCTCTCCCCATCTCCCTCTCCCCCCCTCTCTCCCTCTCCCACCCTCT TCCTCTCCCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTCTT CCCCATCTCCCCCTCTTCTCCTCTCCCCCTCTCCCCCCTCCCCTCTCCTC CTCTCCCTCTCTCCCTGTCCCCCCTCCTCCTCTCCCTCTCTCCCTCTTCC CCATCTCCCCCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTCCCTCTC TCCCCCTCCCCCTCCCTCTCCCCCTCCCCTCTCC	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246613656	T T	TCTCTCCC others(955): Show TCTCTCCCCCCCTCTCTCCCTCTCCCTCACCTCCTCTCTCTCTCCCCCTC TCCCTCTCTCCCTCTCTCCTCTCCTCCTCTCCCTCTCCCTCCCCCTCCCT CTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCATCCCCCTCCCCTCTCT CCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCCCTTCCCCTCTCCCCCTG TCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACATCCTCTCTCTCCCCCTC TCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCTCTCCCTCACGTCCTCT CTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCCCCCTCTCCCCCT CCTCCTCCCCTCTCCCTCTCTCCTCTAATCCCTCTCCCTCACGTCCTCTC TCTCTCCCCCTCTCCCCCTTTCTTCCTCTCCCCCTCTCCCTCTCTACCTC TCCCCCTCTCCCTCTCCCCGTCTCCCTCTCTCCCTCGTCCTCTCGTCCTC TCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGTCCCTCTCTCCCTC TCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTCTCCCTCTCCCCCTC TCTCCCTCTCTCCCTCTCCCCCTCTCTCCCTCTCTGCCTCTCCTCCTCTC CCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCCTCTTTCCCTCTCCCCATC TCCCTCTCCCCCCCTTCTCCCTCTCCCACCCTCTTCCTCTCCCTCTCCCT TCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTCCCCCTCT TCTCCTCTCCCCCTCTCCCCCCTCCCCCTCTCCTCCTCTCCCTCTCTCCC TGTCCCCCCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTCCCCCCTTC TCCTCTCCCCCTCTCCCCCTCCCTCTCTCCCTCTCTCCCCCTCCCCCTCC CTCTCCCCCTCCC	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	6	0.1667	962	c.380 others(979): Show c.380-7767_380-7766insCCCCCTCTCTCCCTCTCCCTCACCTCCT CTCTCTCTCCCCCTCTCCCTCTCTCCCTCTCTCCTCTCCTCCTCTCCCTC TCCCTCCCCCTCCCTCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCAT CCCCCTCCCCTCTCTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCCCT TCCCCTCTCCCCCTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACATC CTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCTC TCCCTCACGTCCTCTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTCCTC TCCCCCTCTCCCCCTCCTCCTCCCCTCTCCCTCTCTCCTCTAATCCCTCT CCCTCACGTCCTCTCTCTCTCCCCCTCTCCCCCTTTCTTCCTCTCCCCCT CTCCCTCTCTACCTCTCCCCCTCTCCCTCTCCCCGTCTCCCTCTCTCCCT CGTCCTCTCGTCCTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCT GTCCCTCTCTCCCTCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCT CTCCCTCTCCCCCTCTCTCCCTCTCTCCCTCTCCCCCTCTCTCCCTCTCT GCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCCTCT TTCCCTCTCCCCATCTCCCTCTCCCCCCCTTCTCCCTCTCCCACCCTCTT CCTCTCCCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTC CCCATCTCCCCCTCTTCTCCTCTCCCCCTCTCCCCCCTCCCCCTCTCCTC CTCTCCCTCTCTCCCTGTCCCCCCTCCTCCTCTCCCTCTCTCCCTCTTCC CCATCTCCCCCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTCCCTCTC TCCCCCTCCCCCTCCCTCTCCCCCTCCCCTCTCC	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
COL23A1_chr5_178232618_178595393	178585576	C C	CACAGCCC others(955): Show CACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGTTGATGCT GGGGGTAACACTCCACGTCCCTGGATGGCGCTGGGGTAACACTCCACAGC CCTGGATGGCGCTGGGGTAACACTCCACAGCCCTGGTTGGCGCTGGGGTA ATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGAT GGCGCTGGGGTAACACTCCACAGCCCTGGATGGCGCTGGGGTAACACTCC ACAGCCCTGGTTGGCGCTGGGGTAATGCCCTACAGCCCTGGTTGGCGCTG GGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCC TGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAAC GCCCTACAGCCCTGGATGGCGCTGGGGTAACACTCCACAGCCCTGGATGG CGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCTAC AGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGG GTAACACTCCACAGCCCTGGATGGCGCTGGGGTAACACTCCACAGCCCTG GATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAACAC TCCACAGCCCTGGATGGCGCTGGGGTAACACTCCACAGCCCTGGATGGCG CTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAG CCCTGGATGGCGCTGGGGTAACACTCCACAGCCCTGGATGGCGCTGGGGT AATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGA TGGCGCTGGGGTAACACTCCACAGCCCTGGATGGCGCTGGGGTAACACTC CACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCT GGGGTAATGCCCT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0217 a0003c0004t0003g0217	1	197	0.0051	962	c.294 others(979): Show c.294+4327_294+4328insAGGGCATTACCCCAGCGCCATCCAGGGC TGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTGGAGTGTTACCCCAGC GCCATCCAGGGCTGTGGAGTGTTACCCCAGCGCCATCCAGGGCTGTAGGG CATTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCC AGGGCTGTGGAGTGTTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACC CCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTG TGGAGTGTTACCCCAGCGCCATCCAGGGCTGTGGAGTGTTACCCCAGCGC CATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTGGAGTG TTACCCCAGCGCCATCCAGGGCTGTGGAGTGTTACCCCAGCGCCATCCAG GGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACCCC AGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTG GAGTGTTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCA TCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCATT ACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCAACCAGGG CTGTAGGGCATTACCCCAGCGCCAACCAGGGCTGTGGAGTGTTACCCCAG CGCCATCCAGGGCTGTGGAGTGTTACCCCAGCGCCATCCAGGGCTGTAGG GCATTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCAAC CAGGGCTGTGGAGTGTTACCCCAGCGCCATCCAGGGCTGTGGAGTGTTAC CCCAGCGCCATCCAGGGACGTGGAGTGTTACCCCCAGCATCAACCAGGGC TGTAGGGCATTACCCCAGCGCCATCCAGGGCTGT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28			chr5	TogoVar
CTDP1_chr18_79674803_79759503	79691731	G G	GGGGGAGG others(955): Show GGGGGAGGAGTGGACAGCTCCCTGGGTGGGGGAGGAGTGGACGGCTCCCA GGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGG GGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGT GGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCA GGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGG GGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGT GGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCA GGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGG GGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGT GGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCA GGGTGGACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGG GTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGT GGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGTGGACGGCTCCCAG GGTGGACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGG TGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGT GGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGTGGACGGCTCCCAG GGTGGACTCAGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGG TGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGTGG ACGGCTCCCAGGGTGGACTCGGGGTGGGAGAAGAGTGGACGGCTCCCAGG GTGGACTCGGGGT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	2	308	0.0065	962	c.315 others(979): Show c.315-3480_315-3479insAGCTCCCTGGGTGGGGGAGGAGTGGACG GCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTG GACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGG GAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACG GCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTG GACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGG GAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACG GCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTG GACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGG GAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACG GCTCCCAGGGTGGACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGG ACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGG GAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGTGGACGG CTCCCAGGGTGGACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGA CTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGG GAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGTGGACGG CTCCCAGGGTGGACTCAGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGA CTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGA GGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGAGAAGAGTGGACGGC TCCCAGGGTGGACTCGGGGTGGGGAGGAGTGGAC	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
DDX51_chr12_132131594_132149319	132149050	C C	CACCACAC others(955): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCACTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACT CCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCC CTAATCCCCTCGGTGAGTGCCGCCTCGCTCACACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCACTCATACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCACTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTC CTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC CCTCGGTGAGTGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGA GTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCG CCGCCTCACTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	285	0.0035	962	c.-47 others(973): Show c.-4755_-4754insAGGAGTGAGGCGGCGGCACTCACCGAGGGGATTA GGGGTGTGGTAGGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTG TGGTGTGAGCGAGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTAGGAG TGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGTGAGGC GGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGTGAGGCGGCGGC ACTCACCGAGGGGATTAGGGGTGTGGTAGGAGCGAGGCGGCGGCACTCAC CGAGGGGATTAGGGGTGTGGTATGAGTGAGGCGGCGGCACTCACCGAGGG GATTAGGGGTGTGGTAGGAGTGAGGCGGCGGCACTCACCGAGGGGATTAG GGGTGTGGTAGGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGT GGTATGAGTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTG AGCGAGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTAGGAGCGAGGCG GCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGCGAGGCGGCGGCA CTCACCGAGGGGATTAGGGGTGTGGTAGGAGTGAGGCGGCGGCACTCACC GAGGGGATTAGGGGTGTGGTAGGAGCGAGGCGGCGGCACTCACCGAGGGG ATTAGGGGTGTGGTATGAGTGAGGCGGCGGCACTCACCGAGGGGATTAGG GGTGTGGTGTGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTG GTAGGAGTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTAGGA GTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTAGGAGTGAGG CGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGTGAGGCGGCGG CACTCACCGAGGGGATTAGGGGTGTGGT	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4732		chr12	TogoVar
EXD3_chr9_137301896_137428162	137355534	A A	AGGAGAAG others(955): Show AGGAGAAGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGGAGGAAG GAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGGAGGAAGGAGGAAG GAGGAAGGAGGAAGGAGAAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAG GAGGAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAG GAGGAAGGAGAAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAG GAGAAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGGAGGAT GGAGGAAGGAGAAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAA GGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGGAGGAT GGAGGAAGGAGAAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAA GGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGGAGGA TGGAGGAAGGAGAAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAA AGGAGGAAGGAGGAAGGGAGGATGGAGGAAGGAGGAAGGAGGAAGGAGGA AGGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGGAGGAAGGAGGAAGGAGA AAGGGAGGAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAG GAAGGAGAAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGAG GAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGGA GGATGGAGGAAGGAGAAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGA GAAAGGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGGAGGATGGAGGAAGG AGAAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGAGGAAGG AGGAAGGGAGGAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0010 a0010	a0010c0006 a0010c0006	a0010c0006t0001 a0010c0006t0001	a0010c0006t0001g0008 a0010c0006t0001g0008	1	70	0.0143	962	c.757 others(977): Show c.757+733_757+734insATCCTCCCTTCCTCCTTCCTCCTTTCTCCT TCCTCCTTCCTCCTTCCTCCTTCCTCCCTTTCTCCTTCCTCCATCCTCCC TTTCTCCTTCCTCCTTCCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCC TTCCTCCTTCCTCCCTTTCTCCTTCCTCCATCCTCCCTTTCTCCTTCCTC CTTCCTCCTTCCTCCTTCCTCCTTCCTCCCTTCCTCCTTTCTCCTTCCTC CTTCCTCCTTCCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCTTCCTC CTTCCTCCTTCCTCCTTCCTCCCTTCCTCCCTTTCTCCTTCCTCCTTCCT CCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCCTTCCTCCTTCCTCCTTCC TCCTTCCTCCATCCTCCCTTCCTCCTTCCTCCTTTCTCCTTCCTCCTTCC TCCTTCCTCCTTCCTCCCTTTCTCCTTCCTCCATCCTCCCTTTCTCCTTC CTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCCTTTCTCCTTCCTCCTTC CTCCTTCCTCCTTCCTCCCTTTCTCCTTCCTCCATCCTCCCTTTCTCCTT CCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTTCTCCTTCCTCCTTC CTCCTTCCTCCTTCCTCCCTTTCTCCTTCCTCCATCCTCCCTTTCTCCTT CCTCCTTCCTCCTTCCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCTT CCTCCTTCCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTT CCTCCTTCCTCCTTCCTCCTTCCTCCCTTCCTCCTTCCTCCTTCCTCCTT CCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCCT TCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCCTTTCTCCT TCCTCCTTCCTCCTTCCTCCTTCCTCTTCTCC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	8/21			chr9	TogoVar
F13A1_chr6_6139084_6325662	6261836	G G	GTGACCCT others(955): Show GTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGG TGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTG CTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGT GACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTG ATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCT CCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGA CCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGAT TCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCC AAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACC CTCCAGGTGATTCTGATGTGCTCCAAGCGTGCTGACCCTCCAGGTGATTC TGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAA GCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCT CCAGGTGATTCTGATGTGCTCCAAGCGTGCTGACCCTCCAGGTGATTCTG ATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGC GTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCC AGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGAT GTGCTCCAAGCGTGCTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGT GGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAG GTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGT GCTCCAAGCGTGC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0170 a0001c0001t0002g0170	1	282	0.0035	962	c.571 others(979): Show c.571+4721_571+4722insGCACGCTTGGAGCACATCAGAATCACCT GGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCAC GCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACAT CAGAATCACCTGGAGGGTCAGCACGCTTGGAGCACATCAGAATCACCTGG AGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGC TTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCA GAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAG GGTCAGCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTT GGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGA ATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGG TCAGCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGG AGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAAT CACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTC ACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAG CACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCA CCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCAC CACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCA CATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACC TGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCA CGCTTGGAGCACATCAGAATCACCTGGAGGGTCA	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	4/14			chr6	TogoVar
F13A1_chr6_6139084_6325662	6261947	G G	GTGACCCT others(955): Show GTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGG TGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTG CTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGCT GACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTG ATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCT CCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGA CCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGAT TCTGATGTGCTCCAAGCGTGCTGACCCTCCAGGTGATTCTGATGTGCTCC AAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACC CTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTC TGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAA GCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGCTGACCCT CCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTG ATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGAAGTGCTCCAAGC GTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCC AGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGAT GTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGT GGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAG GTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGT GCTCCAAGCGTGC	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	281	0.0036	962	c.571 others(979): Show c.571+4610_571+4611insGCACGCTTGGAGCACATCAGAATCACCT GGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCAC GCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACAT CAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGG AGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGC TTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACTTCA GAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAG GGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCAGCACGCTT GGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGA ATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGG TCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGG AGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAAT CACCTGGAGGGTCAGCACGCTTGGAGCACATCAGAATCACCTGGAGGGTC ACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAG CACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCA CCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCAC CACGCTTGGAGCACATCAGAATCACCTGGAGGGTCAGCACGCTTGGAGCA CATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACC TGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCA CGCTTGGAGCACATCAGAATCACCTGGAGGGTCA	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	4/14			chr6	TogoVar
F13A1_chr6_6139084_6325662	6261984	G G	GTGACCCT others(955): Show GTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGG TGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTG CTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGCT GACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTG ATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCT CCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGA CCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGAT TCTGATGTGCTCCAAGCGTGCTGACCCTCCAGGTGATTCTGATGTGCTCC AAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACC CTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTC TGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAA GCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGCTGACCCT CCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTG ATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGAAGTGCTCCAAGC GTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCC AGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGAT GTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGT GGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAG GTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGT GCTCCAAGCGTGC	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0125 a0001c0001t0002g0125	1	270	0.0037	962	c.571 others(979): Show c.571+4573_571+4574insGCACGCTTGGAGCACATCAGAATCACCT GGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCAC GCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACAT CAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGG AGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGC TTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACTTCA GAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAG GGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCAGCACGCTT GGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGA ATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGG TCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGG AGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAAT CACCTGGAGGGTCAGCACGCTTGGAGCACATCAGAATCACCTGGAGGGTC ACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAG CACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCA CCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCAC CACGCTTGGAGCACATCAGAATCACCTGGAGGGTCAGCACGCTTGGAGCA CATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACC TGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCA CGCTTGGAGCACATCAGAATCACCTGGAGGGTCA	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	4/14			chr6	TogoVar
F13A1_chr6_6139084_6325662	6262021	G G	GTGACCCT others(955): Show GTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGG TGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTG CTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGCT GACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTG ATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCT CCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGA CCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGCTGACCCTCCAGGTGAT TCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCC AAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACC CTCCAGGTGATTCTGATGTGCTCCAAGCGTGCTGACCCTCCAGGTGATTC TGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAA GCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCT CCAGGTGATTCTGATGTGCTCCAAGCGTGCTGACCCTCCAGGTGATTCTG ATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGC GTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCC AGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGAT GTGCTCCAAGCGTGCTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGT GGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAG GTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGT GCTCCAAGCGTGC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0122 a0005c0005t0002g0122	1	242	0.0041	962	c.571 others(979): Show c.571+4536_571+4537insGCACGCTTGGAGCACATCAGAATCACCT GGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCAC GCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACAT CAGAATCACCTGGAGGGTCAGCACGCTTGGAGCACATCAGAATCACCTGG AGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGC TTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCA GAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAG GGTCAGCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTT GGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGA ATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGG TCAGCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGG AGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAAT CACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTC AGCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAG CACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCA CCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCAC CACGCTTGGAGCACATCAGAATCACCTGGAGGGTCAGCACGCTTGGAGCA CATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACC TGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCA CGCTTGGAGCACATCAGAATCACCTGGAGGGTCA	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	4/14			chr6	TogoVar
LARS1_chr5_146108034_146187650	146174593	T T	TATATATA others(955): Show TATATATATCCATATATATATATATCCATATATATATATATCCATATATA TATATATCCATATATATATATCCATATATATATATATATCCATATATATA TCCATATATATATATATCCATATATATATATCCATATATATATATCCATA TATATATATCCATATATATATATATCCATATATATATATATCCATATATA TATATCCATATATATATATATCCATATATATATCCATATATATATATCCA TATATATATATCCATATATATATATATCCATATATATATATATCCATATA TATATATCCATATATATATATCCATATATATATATCCATATATATATATC CATATATATATATCCATATATATATATCCATATATATATCCATATATATA TCCATATATATATATCCATATATATATATCCATATATATATATATCCATA TATATATATCCATATATATATATATCCATATATATATATCCATATATATA TATATCCATATATATATATCCATATATATATATATCCATATATATATCCA TATATATATATATCCATATATATATCCATATATATATATATCCATATATA TATCCATATATATATATATCCATATATATATCCATATATATATATATCCA TATATATATATCCATATATATATATATCCATATATATATCCATATATATA TATATCCATATATATATATCCATATATATATATATCCATATATATATATC CATATATATATATATCCATATATATATATCCATATATATATATATCCATA TATATATATCCATATATATATATATCCATATATATATATCCATATATATA TATATCCATATATATATATCCATATATATATATATCCATATATATATATC CATATATATATATATCCATATATATATATCCATATATATATATATCCATA TATATATATATCC	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0229 a0002c0002t0002g0229	1	207	0.0048	962	c.126 others(979): Show c.126-1820_126-1819insGGATATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATATGGATATATATATATATGGATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATGGATATATATATATATGGATATATATATATGGATATATATATAT ATGGATATATATATGGATATATATATATATGGATATATATATGGATATAT ATATATATGGATATATATATGGATATATATATATATGGATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATATGGATATATATATATATGGATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATGGATATATATATGGATAT ATATATGGATATATATATATGGATATATATATATGGATATATATATATGG ATATATATATATGGATATATATATATGGATATATATATATGGATATATAT ATATATGGATATATATATATATGGATATATATATATGGATATATATATAT GGATATATATATGGATATATATATATATGGATATATATATATGGATATAT ATATATATGGATATATATATATATGGATATATATATATGGATATATATAT ATGGATATATATATATGGATATATATATATATGGATATATATATGGATAT ATATATATATATGGATATATATATATGGATATATATATATATGGATATAT ATATATATGGATATATATATATATGGATATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LMF1_chr16_848634_975984	858964	C C	CAGTGGTG others(955): Show CAGTGGTGTCACGGGACGCGTGTGCAGTGGTGTCACGGGACGCGTGTGCA GTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGG TGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGT CTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTC GGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGG ACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACG GGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGTTGTCACGGGACGGGT GTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGC AGTGGTGTCTCGGGAGGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGT GGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTG TCAGGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTTGTGTCT CGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCG GGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGA CGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGG GTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGATGGGT GTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGA GTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCAGT GGTGTCTCGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGCAGTGAT GTCACGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGTCT CGGGATGGGTGTG	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0055 a0001c0008t0001g0055	1	268	0.0037	962	c.153 others(981): Show c.1530-4259_1530-4258insCACACCCATCCCGAGACACCACTCAC ACCCATCCCGTGACACCACTCACACCCATCCCGTGACATCACTGCACACC CATCCCGTGACACCACTCACACCCATCCCGAGACACCACTGCACACCCAT CCCGAGACACCACTGCACACCCATCCCGAGACACCACTCACACCCATCCC GAGACACCACTCACACCCATCCCGTGACACCACTCACACCCATCCCGAGA CACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACA CCACGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCA CTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTG CACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACAACTCAC ACCCGTCCCGAGACACCACTGCACACCCGTCCCCTGACACCACTCACACC CGTCCCGAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTC CCGAGACACCACTGCACACCCCTCCCGAGACACCACTGCACACCCGTCCC GTGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGA CAACACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACAC CACTCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGTGACACCAC TGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCA CACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACA CCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCG TCCCGTGACACCACTCACACCCGTCCCGTGACACCACTGCACACGCGTCC CGTGACACCACTGCACACGCGTCCCGTGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	859094	G G	GGACGGGT others(955): Show GGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGG ACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGG GTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCACGGGACGGGT GTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGC AGTGTTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTG GTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGAGGGGTGTGCAGTGGT GTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCT CGGGACGGGTGTGAGTGGTGTCAGGGGACGGGTGTGCAGTGGTGTCTCGG GACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGAC GGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGG GTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTG TGCGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGC AGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTG GTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCAGTGGTG TCTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCA CGGGATGGGTGTGCAGTGATGTCACGGGATGGGTGTGAGTGGTGTCACGG GATGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACG GGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGT GTGCAGTGGTGTCACGGGACGGGTGTGAGTGATGTCACGGGACGGGTGTG AGTGGTGTCTCGA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0163 a0001c0003t0001g0163	1	185	0.0054	962	c.153 others(981): Show c.1530-4389_1530-4388insTCGAGACACCACTCACACCCGTCCCG TGACATCACTCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGTGA CACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACAC CACTCACACCCGTCCCGAGACACCACTCACACCCATCCCGTGACACCACT CACACCCATCCCGTGACATCACTGCACACCCATCCCGTGACACCACTCAC ACCCATCCCGAGACACCACTGCACACCCATCCCGAGACACCACTGCACAC CCATCCCGAGACACCACTCACACCCATCCCGAGACACCACTCACACCCAT CCCGTGACACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCC GAGACACCACTGCACACCCGTCCCGAGACACCACGCACACCCGTCCCGAG ACACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACA CCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACC ACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACT GCACACCCGTCCCCTGACACCACTCACACCCGTCCCGAGACACCACTCAC ACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTGCACACC CCTCCCGAGACACCACTGCACACCCGTCCCGTGACACCACTCACACCCGT CCCGAGACACCACTCACACCCGTCCCGTGACAACACTGCACACCCGTCCC GAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGA CACCACTGCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACA CCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCAC TGCACACCCGTCCCGAGACACCACTGCACACCCGTC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	859094	G G	GGACGGGT others(955): Show GGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGG ACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGG GTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCACGGGACGGGT GTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGC AGTGTTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTG GTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGAGGGGTGTGCAGTGGT GTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCT CGGGACGGGTGTGAGTGGTGTCAGGGGACGGGTGTGCAGTGGTGTCTCGG GACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGAC GGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGG GTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTG TGCGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGC AGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTG GTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCAGTGGTG TCTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCA CGGGATGGGTGTGCAGTGATGTCACGGGATGGGTGTGAGTGGTGTCACGG GATGGGTGTGAGTGTTGTCTCGGGATGGGTGTGAGTGGTGTCACGGGACG GGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGT GTGCAGTGGTGTCACGGGACGGGTGTGAGTGATGTCACGGGACGGGTGTG AGTGGTGTCTCGA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0001 a0001c0033t0001	a0001c0033t0001g0274 a0001c0033t0001g0274	1	185	0.0054	962	c.153 others(981): Show c.1530-4389_1530-4388insTCGAGACACCACTCACACCCGTCCCG TGACATCACTCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGTGA CACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACAC CACTCACACCCATCCCGAGACAACACTCACACCCATCCCGTGACACCACT CACACCCATCCCGTGACATCACTGCACACCCATCCCGTGACACCACTCAC ACCCATCCCGAGACACCACTGCACACCCATCCCGAGACACCACTGCACAC CCATCCCGAGACACCACTCACACCCATCCCGAGACACCACTCACACCCAT CCCGTGACACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCC GAGACACCACTGCACACCCGTCCCGAGACACCACGCACACCCGTCCCGAG ACACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACA CCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACC ACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACT GCACACCCGTCCCCTGACACCACTCACACCCGTCCCGAGACACCACTCAC ACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTGCACACC CCTCCCGAGACACCACTGCACACCCGTCCCGTGACACCACTCACACCCGT CCCGAGACACCACTCACACCCGTCCCGTGACAACACTGCACACCCGTCCC GAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGA CACCACTGCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACA CCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCAC TGCACACCCGTCCCGAGACACCACTGCACACCCGTC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	859094	G G	GGACGGGT others(955): Show GGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGG ACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGG GTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCACGGGACGGGT GTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGC AGTGTTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTG GTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGAGGGGTGTGCAGTGGT GTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCT CGGGACGGGTGTGAGTGGTGTCAGGGGACGGGTGTGCAGTGGTGTCTCGG GACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGAC GGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGG GTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTG TGCGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGC AGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTG GTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCAGTGGTG TCTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCA CGGGATGGGTGTGCAGTGATGTCACGGGATGGGTGTGAGTGGTGTCACGG GATGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACG GGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGT GTGCAGTGGTGTCACGGGACGGGTGTGAGTGATGTCACGGGACGGGTGTG AGTGGTGTCTCGA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0044 a0001c0044	a0001c0044t0001 a0001c0044t0001	a0001c0044t0001g0034 a0001c0044t0001g0034	1	185	0.0054	962	c.153 others(981): Show c.1530-4389_1530-4388insTCGAGACACCACTCACACCCGTCCCG TGACATCACTCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGTGA CACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACAC CACTCACACCCGTCCCGAGACACCACTCACACCCATCCCGTGACACCACT CACACCCATCCCGTGACATCACTGCACACCCATCCCGTGACACCACTCAC ACCCATCCCGAGACACCACTGCACACCCATCCCGAGACACCACTGCACAC CCATCCCGAGACACCACTCACACCCATCCCGAGACACCACTCACACCCAT CCCGTGACACCACTCACACCCATCCCGAGACACCACTGCACACCCGTCCC GAGACACCACTGCACACCCGTCCCGAGACACCACGCACACCCGTCCCGAG ACACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACA CCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACC ACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACT GCACACCCGTCCCCTGACACCACTCACACCCGTCCCGAGACACCACTCAC ACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTGCACACC CCTCCCGAGACACCACTGCACACCCGTCCCGTGACACCACTCACACCCGT CCCGAGACACCACTCACACCCGTCCCGTGACAACACTGCACACCCGTCCC GAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGA CACCACTGCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACA CCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCAC TGCACACCCGTCCCGAGACACCACTGCACACCCGTC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LUC7L_chr16_183990_234449	186085	G G	GGAGGAAC others(955): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGG AACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAACAGCGACACGGG GGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGC GACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGG GGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAGCGAC ACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACA GCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGG GAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGG GGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGG AACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGG GGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCG ACACGGAGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACA GCGACACGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	329	0.0030	962	c.31 others(973): Show c.3112_*3113insTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTT CCTCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTGTTCCTCCCCGTGTCGC TGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGT GTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCG TGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCC TCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGT TCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGC TGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGT GTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCC CCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTT CCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCTCCGTGTCG CTGTTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCC GTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCC CCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCC TCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGC TGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGT CGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCC CGTGTCGCTGTTCCCTCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCC TCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCG CTGTTCCTCCCCCGTGTCGCTGTTCCTC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2904		chr16	TogoVar
MEGF6_chr1_3482951_3616508	3502017	G G	GCCTCACA others(955): Show GCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACACCTCCTCACATGGG CTCCTGGCGAGTGTGCCCCCCCGCACCTCCTCACATGGGCTCCTGGCGAG TGTGCCCCCCGTGCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGTGCC TCACATGGGCTCCTGGCGAGTGTGCCCCCCGCCTCCTCACATGGGCTCCT GGCGAGTGTGCCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTG CCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCTGTGC CTCACATAGGCTCCTGGCGAGTGTGCCCCCCCCGCGCCTCCTCACATGGG CTCCTGGCGAGTGTGCCCCCTGTGCCTCACATAGGCTCCTGGCGAGTGTG CCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCCGC GCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGGCGCCTCCTCAC ATGGGCTCCTGGCGAGTGTGCCCCCCCCCGCGCCTCCTCACATGGGCTCC TGGCGAGTGTGCCCCCCACGCCTCCTCACATGGGCTCCTGGCGAGTGTGC CCCCCCGGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCCCGC GCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACGCCTCCTCACAT GGGCTCCTGGCGAGTGTGCCCCCCCGGCGCCTCCTCACATGGGCTCCTGG CGAGTGTGCCCCCCCGGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCC CCCCCGGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACGCCT CCTCACATGGGATCCTGGCGAGTGTGCCCCCCCGCACCTCCTCACATGGG CTCCTGGCGAGTGTGCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGT GTGCCCCCCGCCT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0157 a0001c0001t0009g0157	1	32	0.0313	962	c.218 others(977): Show c.2189-97_2189-96insAGGCGGGGGGCACACTCGCCAGGAGCCCAT GTGAGGAGGCGCGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGTGC GGGGGGGCACACTCGCCAGGATCCCATGTGAGGAGGCGTGGGGGGCACAC TCGCCAGGAGCCCATGTGAGGAGGCGCCGGGGGGGCACACTCGCCAGGAG CCCATGTGAGGAGGCGCCGGGGGGGCACACTCGCCAGGAGCCCATGTGAG GAGGCGCCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGTGGG GGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGGGCACACT CGCCAGGAGCCCATGTGAGGAGGCGCCGGGGGGGCACACTCGCCAGGAGC CCATGTGAGGAGGCGTGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAG GCGCGGGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCCGGGG GGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGGCACACTC GCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGGCACACTCGCCAGGAGCC TATGTGAGGCACAGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGC GGGGGGGGCACACTCGCCAGGAGCCTATGTGAGGCACAGGGGGCACACTC GCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGGCACACTCGCCAGGAGCC CATGTGAGGAGGCGCGGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGA GGCGGGGGGCACACTCGCCAGGAGCCCATGTGAGGCACGGGGGGCACACT CGCCAGGAGCCCATGTGAGGCACGGGGGGCACACTCGCCAGGAGCCCATG TGAGGAGGTGCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGTGT GGGGGGCACACTCGCCAGGAGCCCATGTGAGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	17/36			chr1	TogoVar
MRPL28_chr16_361969_375538	370338	G G	GCTACCCC others(955): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCACTCAC CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCACTCACCCGCTACCCCGGCCCCCGGCTC TCACCCTCTACCCCGGCCCCCGGCACTCACCCGCTACCCCGGCCCCCGGC TCTCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCG GCACTCACCCCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCC CGGCACTCACCCGCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCC CCCGGCACTCACCCGCTACCCCTGCCCCCGGCACTCACCCCCTACCCCGG CCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCTCTCACCCTCTACCCC GGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACC CCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCACTCACCCCCTA CCCCGGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCCC TACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCACTCACCC CCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTCAC CCCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCTCTC ACCTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCTGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGC TCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCG GCACTCACCCCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCC CGGCTCTCACCTC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0009 a0009	a0009c0017 a0009c0017	a0009c0017t0006 a0009c0017t0006	a0009c0017t0006g0062 a0009c0017t0006g0062	1	353	0.0028	962	c.-7- others(975): Show c.-7-114_-7-113insGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTG AGTGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGG TGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGG GGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAG GAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGT AGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGG GTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCG GGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGC AGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGG GCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGG GGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGAGGGTGAGAGCC GGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGTG CCGGGGGCAGGGGTAGCGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAG AGCCGGGGGCAGGGGTAGCGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTG AGTGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGAGG TGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCG GGTGAGTGCCGGGGGCCGGGGTAGAGGGTGAGAGCCGGGGGCCGGGGTAG CGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGT AGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGG GTAGGGGGTGAGAGCCGGGGGCAGGGGTAG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MRTFA_chr22_40405289_40641719	40537435	G G	GGGCCAGC others(955): Show GGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGA GGGAGGTGGGGGGGTCAGCCCTCCGCCGGGCCAGCCGCCCCGTCTGGGAG GTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCT CTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCC CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGTGGGGGGGTCGGCCCCC CTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTC CAGGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCCCGCCCGGCCAGCCGCC CCATCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCTGGCCAGCCGTGC CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCAC GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCAGCCCGGCCAGCCACCCCGTCCGGGAGGGAGATGGGGGGG TCAGCCCCCCCACCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCTGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGT CAGCCCTCCGCCC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	215	0.0047	962	c.241 others(981): Show c.241+14670_241+14671insGGGCGGAGGGCTGACCCCCCCACCTC CCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCC CTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGTGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCA GGCGGGGGACTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGG GCGGGGGGGGCTGACCCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTG GCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCC CCCACACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGG CGGCTGGCCCGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGC GGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537435	G G	GGGCCAGC others(955): Show GGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAG GGAGGTGGGGGGGTCAGCCCTCCGCCGGGCCAGCCGCCCCGTCTGGGAGG TGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCGGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGTGGGGGGGTCGGCCCCCC TGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC AGGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCC ATCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCTGGCCAGCCGTGCCG TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCACGT CCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCAGCCCGGCCAGCCACCCCGTCCGGGAGGGAGATGGGGGGGTC AGCCCCCCCACCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGGT CAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGT CAGCCCTCCGCCC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	215	0.0047	962	c.241 others(981): Show c.241+14670_241+14671insGGGCGGAGGGCTGACCCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCCACCT CCCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCT CCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGTGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGC CAGGCGGGGGACTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCC GGGCGGGGGGGCTGACCCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCC CCCCACACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGG GCGGCTGGCCCGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
PGAP6_chr16_365788_386978	370338	G G	GCTACCCC others(955): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCACTCAC CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCACTCACCCGCTACCCCGGCCCCCGGCTC TCACCCTCTACCCCGGCCCCCGGCACTCACCCGCTACCCCGGCCCCCGGC TCTCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCG GCACTCACCCCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCC CGGCACTCACCCGCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCC CCCGGCACTCACCCGCTACCCCTGCCCCCGGCACTCACCCCCTACCCCGG CCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCTCTCACCCTCTACCCC GGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACC CCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCACTCACCCCCTA CCCCGGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCCC TACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCACTCACCC CCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTCAC CCCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCTCTC ACCTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCTGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGC TCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCG GCACTCACCCCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCC CGGCTCTCACCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0014 a0014	a0014c0015 a0014c0015	a0014c0015t0005 a0014c0015t0005	a0014c0015t0005g0087 a0014c0015t0005g0087	1	338	0.0030	962	c.16 others(973): Show c.1648_*1649insGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAG TGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTG AGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGG TGAGTGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAGGA GGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAG GGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGT AGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGG GTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAG GGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGC CGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGG GCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGAGGGTGAGAGCCGG GGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGTGCC GGGGGCAGGGGTAGCGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGAG CCGGGGGCAGGGGTAGCGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAG TGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGAGGTG AGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGG TGAGTGCCGGGGGCCGGGGTAGAGGGTGAGAGCCGGGGGCCGGGGTAGCG GGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAG CGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGT AGGGGGTGAGAGCCGGGGGCAGGGGTAG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		449		chr16	TogoVar

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