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
HCN2_chr19_584881_622159	602941	C C	CAGGCGCC others(465): Show CAGGCGCCTGGGGGGAAGGCACCGGCCTGAGCTGTGGGCACCCTTGCCCC CCAGGGAGGAATGCCCGGGGCTGGTCCCATAGGTGCCTGGGGGAAGGCAC CAGCCTGAAGTGTGGGTGCCCCTCGCCCCCAGGGAGGAGTGCCCAGGGCT GGTCCTGCAGGCGCCTGGGGGGAAGGCACCAGCCTGAGGTGTGGGCACCC TCGCCCCCCAGGGAGGAATGCCCGGGGCTGGTCCCATAGGTGCCTGGGGG AAGGCACCAGCCTGAGGTGTGGGCACCCTTGCCCCCCCAGGGAGGAGTGC CCAGGGCTGGTCCTGCAGGCGCCTGGGGGGAAGGCACTGGCCTGAGGTGT GGGCACCCTCGTCCCCCAGGGAGGAATGCCCGGGGCTGGTCCCATAGGTG CCTGGGGGAAGGCACCAGCCTGAGGTGTGGGTGCCCCTCGCCCCCAGGGA GGAATGCCCGGGGCTGGTCCCAT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0001 a0002c0015t0001	a0002c0015t0001g0306 a0002c0015t0001g0306	1	408	0.0025	472	c.633 others(487): Show c.633-560_633-559insTGCCCCCCAGGGAGGAATGCCCGGGGCTGG TCCCATAGGTGCCTGGGGGAAGGCACCAGCCTGAAGTGTGGGTGCCCCTC GCCCCCAGGGAGGAGTGCCCAGGGCTGGTCCTGCAGGCGCCTGGGGGGAA GGCACCAGCCTGAGGTGTGGGCACCCTCGCCCCCCAGGGAGGAATGCCCG GGGCTGGTCCCATAGGTGCCTGGGGGAAGGCACCAGCCTGAGGTGTGGGC ACCCTTGCCCCCCCAGGGAGGAGTGCCCAGGGCTGGTCCTGCAGGCGCCT GGGGGGAAGGCACTGGCCTGAGGTGTGGGCACCCTCGTCCCCCAGGGAGG AATGCCCGGGGCTGGTCCCATAGGTGCCTGGGGGAAGGCACCAGCCTGAG GTGTGGGTGCCCCTCGCCCCCAGGGAGGAATGCCCGGGGCTGGTCCCATA GGCGCCTGGGGGGAAGGCACCGGCCTGAGCTGTGGGCACCCT	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	602941	C C	CAGGCGCC others(465): Show CAGGCGCCTGGGGGGAAGGCACCGGCCTGAGGTGTGGGCACCCTCGCCCC CCAGGGAGGAATGCCCGGGGCTGGTCCCATAGGTGCCTGGGGGAAGGCAC CAGCCTGAAGTGTGGGTACCCCTCGCCCCCAGGGAGGAGTGCCCAGGGCT GGTCCTGCAGGCGCCTGGGGGGAAGGCACCAGCCTGAGGTGTGGGCACCC TCGCCCCCCAGGGAGGAATGCCCGGGGCTGGTCCCATAGGTGCCTGGGGG AAGGCACCAGCCTGAGGTGTGGGCACCCTTGCCCCCCAGGGAGGAGTGCC CAGGGGCTGGTCCTGCAGGCGCCTGGGGGGAAGGCACTGGCCTGAGGTGT GGGCACCCTCGTCCCCCAGGGAGGAATGCCCGGGGCTGGTCCCATAGGTG CCTGGGGGAAGGCACCAGCCTGAGGTGTGGGTGCCCCTCGCCCCCAGGGA GGAATGCCCGGGGCTGGTCCCAT	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0031 a0031	a0031c0150 a0031c0150	a0031c0150t0003 a0031c0150t0003	a0031c0150t0003g0094 a0031c0150t0003g0094	1	408	0.0025	472	c.633 others(487): Show c.633-573_633-572insGTGTGGGCACCCTCGCCCCCCAGGGAGGAA TGCCCGGGGCTGGTCCCATAGGTGCCTGGGGGAAGGCACCAGCCTGAAGT GTGGGTACCCCTCGCCCCCAGGGAGGAGTGCCCAGGGCTGGTCCTGCAGG CGCCTGGGGGGAAGGCACCAGCCTGAGGTGTGGGCACCCTCGCCCCCCAG GGAGGAATGCCCGGGGCTGGTCCCATAGGTGCCTGGGGGAAGGCACCAGC CTGAGGTGTGGGCACCCTTGCCCCCCAGGGAGGAGTGCCCAGGGGCTGGT CCTGCAGGCGCCTGGGGGGAAGGCACTGGCCTGAGGTGTGGGCACCCTCG TCCCCCAGGGAGGAATGCCCGGGGCTGGTCCCATAGGTGCCTGGGGGAAG GCACCAGCCTGAGGTGTGGGTGCCCCTCGCCCCCAGGGAGGAATGCCCGG GGCTGGTCCCATAGGCGCCTGGGGGGAAGGCACCGGCCTGAG	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	602941	C C	CAGGTGCC others(465): Show CAGGTGCCTGGGGGGAAGGCACCGGCCTGAGCTGTGGGCACCCTTGCCCC CCAGGGAGGAATGCCCGGGGCTGGTCCCATAGGTGCCTGGGGGAAGGCAC CAGCCTGAAGTGTGGGTGCCCCTCGCCCCCAGGGAGGAGTGCCCAGGGCT GGTCGTGCAGGCGCCTGGGGGGGAAGGCACCGGCCTGAGGTGTGGGCACC CTCGCCCCCCAGGGAGGAATGCCCGGGGCTGGTCCCATAGGTGCCTGGGG GAAGGCACCGGCCTGAGCTGTGGGCACCCTTGCCCCCCAGGGAGGAGTGC CCGGGGCTGGTCCTGCAGGCGCCTGGGGGGAAGGCACTGGCCTGAGGTGT GGGCACCCTCGTCCCCCAGGGAGGAATGCCCGGGGCTGGTCCCATAGGTG CCTGGGGGAAGGCACCAGCCTGAGGTATGGGTGCCCCTCGCCCCCAGGGA GGAATGCCCGGGGCTGGTCCCAT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0004 a0001c0024t0004	a0001c0024t0004g0059 a0001c0024t0004g0059	1	408	0.0025	472	c.633 others(487): Show c.633-600_633-599insTGCCTGGGGGGAAGGCACCGGCCTGAGCTG TGGGCACCCTTGCCCCCCAGGGAGGAATGCCCGGGGCTGGTCCCATAGGT GCCTGGGGGAAGGCACCAGCCTGAAGTGTGGGTGCCCCTCGCCCCCAGGG AGGAGTGCCCAGGGCTGGTCGTGCAGGCGCCTGGGGGGGAAGGCACCGGC CTGAGGTGTGGGCACCCTCGCCCCCCAGGGAGGAATGCCCGGGGCTGGTC CCATAGGTGCCTGGGGGAAGGCACCGGCCTGAGCTGTGGGCACCCTTGCC CCCCAGGGAGGAGTGCCCGGGGCTGGTCCTGCAGGCGCCTGGGGGGAAGG CACTGGCCTGAGGTGTGGGCACCCTCGTCCCCCAGGGAGGAATGCCCGGG GCTGGTCCCATAGGTGCCTGGGGGAAGGCACCAGCCTGAGGTATGGGTGC CCCTCGCCCCCAGGGAGGAATGCCCGGGGCTGGTCCCATAGG	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	602941	C C	CAGGTGCC others(465): Show CAGGTGCCTGGGGGGAAGGCACCGGCCTGAGCTGTGGGCACCCTTGCCCC CCAGGGAGGAATTCCCCGGGGCTGGTCCCATAGGTGCCTGGGGGAAGGCA CCAGCCTGAAGTGTGGGTGCCCCTCGCCCCCAGGGAGGAGTGCCCAGGGC TGGTCGTGCAGGCGCCTGGGGGGAAGGCACCGGCCTGAGGTGTGGGCACC CTCGCCCCCCAGGGAGGAATGCCCGGGGCTGGTCCCATAGGTGCCTGGGG GAAGGCACCGGCCTGAGCTGTGGGCACCCTTGCCCCCCAGGGAGGAGTGC CCGGGGCTGGTCCTGCAGGCGCCTGGGGGGAAGGCACTGGCCTGAGGTGT GGGCACCCTCGTCCCCCAGGGAGGAATGCCCGGGGCTGGTCCCATAGGTG CCTGGGGGAAGGCACCAGCCTGAGGTATGGGTGCCCCTCGCCCCCAGGGA GGAATGCCCGGGGCTGGTCCCAT	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0212 a0001c0005t0001g0212	1	408	0.0025	472	c.633 others(487): Show c.633-600_633-599insTGCCTGGGGGGAAGGCACCGGCCTGAGCTG TGGGCACCCTTGCCCCCCAGGGAGGAATTCCCCGGGGCTGGTCCCATAGG TGCCTGGGGGAAGGCACCAGCCTGAAGTGTGGGTGCCCCTCGCCCCCAGG GAGGAGTGCCCAGGGCTGGTCGTGCAGGCGCCTGGGGGGAAGGCACCGGC CTGAGGTGTGGGCACCCTCGCCCCCCAGGGAGGAATGCCCGGGGCTGGTC CCATAGGTGCCTGGGGGAAGGCACCGGCCTGAGCTGTGGGCACCCTTGCC CCCCAGGGAGGAGTGCCCGGGGCTGGTCCTGCAGGCGCCTGGGGGGAAGG CACTGGCCTGAGGTGTGGGCACCCTCGTCCCCCAGGGAGGAATGCCCGGG GCTGGTCCCATAGGTGCCTGGGGGAAGGCACCAGCCTGAGGTATGGGTGC CCCTCGCCCCCAGGGAGGAATGCCCGGGGCTGGTCCCATAGG	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HS3ST2_chr16_22809162_22921338	22819134	T T	TCCCTCCT others(465): Show TCCCTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCTTCATTC CTTCCTTCCTTCCTTCCTTCCTTCATTCCTTCCTTCCTTCCTTCCCTCCT TCCTTCCTTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTC CTTCCTTCCTTCATTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCT TCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CCTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCCTCCT TCCTTCCTTCCTTCCTTCATTCCTTCCTTCCTTCCTTCCTTCCTTCATTC CTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCTCCCTCCCT CCCTCCCTTCCTTCCTTCCCTCCTTCCTTCCGTCCTTCCCTCCTTCCTTC CTTCCCTCCTTCCTTCCTCCCTC	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	350	0.0029	472	c.485 others(489): Show c.485+4041_485+4042insCTCCTTCCTTCCTTCCTTCCCTCCTTCC TTCCTTCCTTCCTTCATTCCTTCCTTCCTTCCTTCCTTCCTTCATTCCTT CCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCTCCCTCCC TCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCATTCCTTCCTTCCTTCCTT CCCTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCTTCCCTCCTT CCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCTTCATTCCTTCCTTCC TTCCTTCCTTCCTTCATTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCT CCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCCTCCTTCCTTCC GTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCTCCCTCCC	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST2_chr16_22809162_22921338	22819134	T T	TCCTTCCC others(465): Show TCCTTCCCTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCTTC ATTCCTTCCTTCCTTCCTTCCTTCCTTCATTCCTTCCTTCCTTCCTTCCC TCCTTCCTTCCTTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTC CTTCCTTCCTTCCTTCATTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCT TCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCTTCCTTC CCTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCCTCCT TCCTTCCTTCCTTCCTTCATTCCTTCCTTCCTTCCTTCCTTCCTTCATTC CTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCTCCCTCCCT CCCTCCCTTCCTTCCTTCCCTCCTTCCTTCCGTCCTTCCCTCCTTCCTTC CTTCCCTCCTTCCTTCCTCCCTC	intron_variant intron_variant	MODIFIER	HG03017.hp1 NA20752.hp1 HG03017.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0002 a0001c0002t0001 a0001c0004t0002	a0001c0002t0001g0063 a0001c0004t0002g0183 a0001c0002t0001g0063 a0001c0004t0002g0183	2	350	0.0057	472	c.485 others(489): Show c.485+4045_485+4046insCTCCTTCCTTCCTTCCTTCCCTCCTTCC TTCCTTCCTTCCTTCATTCCTTCCTTCCTTCCTTCCTTCCTTCATTCCTT CCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCTCCCTCCC TCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCATTCCTTCCTTCCTTCCTT CCCTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCC TTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTT CCTTCCTTCCCTCCTTCCTTCCTTCCTTCCTTCATTCCTTCCTTCCTTCC TTCCTTCCTTCATTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTT CCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCCTCCTTCCTTCCGTCC TTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCTCCCTCCCTTCC	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST2_chr16_22809162_22921338	22819134	T T	TCCTTCCC others(465): Show TCCTTCCCTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCTTC ATTCCTTCCTTCCTTCCTTCCTTCCTTCATTCCTTCCTTCCTTCCTTCCC TCCTTCCTTCCTTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTC CTTCCTTCCTTCCTTCATTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCT TCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCCTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCC TCCTTCCTTCCTTCCTTCCTTCATTCCTTCCTTCCTTCCTTCCTTCATTC CTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCTCCCTCCCT CCCTCCCTTCCTTCCTTCCCTCCTTCCTTCCGTCCTTCCCTCCTTCCTTC CTTCCCTCCTTCCTTCCTCCCTC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01168.hp2 HG00323.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0320 a0001c0001t0001g0321	2	350	0.0057	472	c.485 others(489): Show c.485+4045_485+4046insCTCCTTCCTTCCTTCCTTCCCTCCTTCC TTCCTTCCTTCCTTCATTCCTTCCTTCCTTCCTTCCTTCCTTCATTCCTT CCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCTCCCTCCC TCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCATTCCTTCCTTCCTTCCTT CCCTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCTTCCCTCCTT CCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCTTCATTCCTTCCTTCC TTCCTTCCTTCATTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTT CCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCCTCCTTCCTTCCGTCC TTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCTCCCTCCCTTCC	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
IL1RAPL2_chrX_104561199_105772829	105307514	T T	TATATATA others(465): Show TATATATATTTTATATTATATATATTATATATAATATATATATTTTATAT TATATATATTATATATAATATATATATTTTATATTATATATATTATATAT AATATATATATTTTATATTATATATATTATATATAATATATATATTTTAT ATTATATATATTATATATAATATATATATTTTATATTATATATATTATAT ATAATATATATATTTTATATTATATATATTATATATAATATATATATTTT ATATTATATATATTATATATAATATATATATTTTATATTATATATATTAT ATATAATATATATATTTTATATTATATATATTATATATAATATATATATT TTATATTATATATATTATATATAATATATATATTTTATATTATATATATT ATATATAATATATATATTTTATATTATATATATTATATATAATATATATT TTATATTATATATATTATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	141	0.0071	472	c.697 others(491): Show c.697+40013_697+40014insATTTTATATTATATATATTATATATA ATATATATATTTTATATTATATATATTATATATAATATATATATTTTATA TTATATATATTATATATAATATATATATTTTATATTATATATATTATATA TAATATATATATTTTATATTATATATATTATATATAATATATATATTTTA TATTATATATATTATATATAATATATATATTTTATATTATATATATTATA TATAATATATATATTTTATATTATATATATTATATATAATATATATATTT TATATTATATATATTATATATAATATATATATTTTATATTATATATATTA TATATAATATATATATTTTATATTATATATATTATATATAATATATATAT TTTATATTATATATATTATATATAATATATATTTTATATTATATATATTA TATATAATATATATTTTATATTATATATATTATATATAATATATAT	IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	5/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
INS_chr11_2154779_2166209	2161833	G G	GACCCCTG others(465): Show GACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCT GTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCA GGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGACCCCT GTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCC ACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGACCCCT GTCCCCAGGACCCCTGTCCTCAGACCCCTGTCCCCACACCCCTGTCCCCA CACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCT GTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCA CACCCCTGTCCCCAGGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCC TGTCCCCACACCCCTGTCCCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	376	0.0027	472	c.-68 others(481): Show c.-684_-683insGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGAC AGGGGTCCTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGT GTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGA CAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGT GTGGGGACAGGGGTCTGAGGACAGGGGTCCTGGGGACAGGGGTCTGGGGA CAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTC CTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTCTGGGGA CAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGT CCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGA CAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGT	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		625		chr11	TogoVar
JAKMIP3_chr10_132060946_132189858	132173126	C C	CTCTCTCT others(465): Show CTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCTCCC CCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCC CCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCCCCTCCCCCTCTCTCCCC CTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCTCTCTCCCCC TCTCTGTCCCCCTCCCCTCCCCCCTCTCCCCTCCCCCTCCCCCCTATCCC CCTCCCCCTCCCCCTCCCCCCCATCCCCCTCCCCCTCATCCCCCTCCCCC TCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCT CTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCTCCTTCCCTCTC TCTCTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCCTCCCTCTCT CTCTCTCCCCCTCCTTCCCCCTG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0002 a0002c0010t0002	a0002c0010t0002g0158 a0002c0010t0002g0158	1	158	0.0063	472	c.11 others(493): Show c.1103+4101_*1103+4102insCCCCTCCCCCTCCTTCCCTCTCTC TCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCC TCCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCC CCTCCCCCTCTCTCCCCCTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTC CCCCCTCTCTCTCCCCCTCTCTGTCCCCCTCCCCTCCCCCCTCTCCCCTC CCCCTCCCCCCTATCCCCCTCCCCCTCCCCCTCCCCCCCATCCCCCTCCC CCTCATCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCT CTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTC CCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTGTCTCTCT CCCCCCCCTCCCTCTCTCTCTCTCCCCCTCCTTCCCCCTGTCTCTCTC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KCNMB2_chr3_178531436_178849429	178758039	T T	TACACAAG others(465): Show TACACAAGAGGATATATATATATACACACAAGAGGATATATATATATATA TATCCAAGAGGATATATATATATATATCCAAGAGGATATATATATATATA TATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATA TATATATATATATATCCAAGAGGATATATATATATATATATATATCCAAG AGGATATATATATATATATATATATCCAAGAGGATATATATATATATATA TATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATA TATATATATATATATCCAAGAGGATATATATATATATATATATATCCAAG AGGATATATATATATATATATATATCCAAGAGGATATATATATATATATA TATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATA TATATATATATATATCCAAGAGG	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0037 a0001c0002t0001g0037	1	232	0.0043	472	c.-67 others(491): Show c.-67-49303_-67-49302insCACAAGAGGATATATATATATACACA CAAGAGGATATATATATATATATATCCAAGAGGATATATATATATATATC CAAGAGGATATATATATATATATATATCCAAGAGGATATATATATATATA TATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATA TATATATATATATATATCCAAGAGGATATATATATATATATATATATCCA AGAGGATATATATATATATATATATATCCAAGAGGATATATATATATATA TATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATA TATATATATATATATATCCAAGAGGATATATATATATATATATATATCCA AGAGGATATATATATATATATATATATCCAAGAGGATATATATATATATA TATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGA	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KDM4B_chr19_4964113_5158598	5090463	C C	CCTCTTTC others(465): Show CCTCTTTCTCTCCCCCCCTCTCTTTCTCTCCCCCTCTCGCCCCCTCTCTC CCCCTCTCCCCCTCTTTCCCCGCTCCCCCTCTCTCTCTCCCCATCTCTCT CTCCCCCCATATCTCTCCCCCTCTCTCTCTCTCTCCCCCCCCTCTCCCCC TCTGTCTCTCTCTCCCCCATCTCTCTTCCCCCTCTCTCTCCGCCTCTTTC TCTCCCCCCCCTCTTTCTCTCCCCCCCTCTCTTTCTCTCCCCCCCTCTCT TTCTCTCCCCCTCTCGCCCCCTCTCTCCCCCTCTCCCCCTCTTTCCCCGC TCCCCCTCTCTCTCTCCCCATCTCTCTCTCCCCCCATATCTCTCCCCCTC TCTCTCTCTCTCCCCCCCCTCTCCCCCTCTGTCTCTCTCTCCCCCATCTC TCTTCCCCCTCTCTCTCCGCCTCTTTCTCTCCCCCCCCTCTTTCTCTCCC CCCCTCTCTTTCTCTCCCCCCCT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0119 a0002c0002t0002g0119	1	270	0.0037	472	c.918 others(489): Show c.918+8008_918+8009insCCCCTCTCCCCCTCTTTCCCCGCTCCCC CTCTCTCTCTCCCCATCTCTCTCTCCCCCCATATCTCTCCCCCTCTCTCT CTCTCTCCCCCCCCTCTCCCCCTCTGTCTCTCTCTCCCCCATCTCTCTTC CCCCTCTCTCTCCGCCTCTTTCTCTCCCCCCCCTCTTTCTCTCCCCCCCT CTCTTTCTCTCCCCCCCTCTCTTTCTCTCCCCCTCTCGCCCCCTCTCTCC CCCTCTCCCCCTCTTTCCCCGCTCCCCCTCTCTCTCTCCCCATCTCTCTC TCCCCCCATATCTCTCCCCCTCTCTCTCTCTCTCCCCCCCCTCTCCCCCT CTGTCTCTCTCTCCCCCATCTCTCTTCCCCCTCTCTCTCCGCCTCTTTCT CTCCCCCCCCTCTTTCTCTCCCCCCCTCTCTTTCTCTCCCCCCCTCTCTT TCTCTCCCCCCCTCTCTTTCTCTCCCCCTCTCGCCCCCTCTCTC	KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr19	TogoVar
LCN15_chr9_136754634_136769518	136769349	A A	ACCCCCCC others(465): Show ACCCCCCCATGCACTGCCCCCCCCGCCACCCCGCCACCCCTCCATGCACT GGCCCTCCCGCCACCCCGCCACCCCTCCATGCACTGCCCCCCGCCACCCC GCCACCCCCCCATGCACTGCCCCCCCCGCCACCCCCCCATGCACTGCCCC CCCCGCCACCCCCCCATGCACTGCCCCCCCCGCCACCCCCCCATGCACTG CCCCCCCCGCCACCCCCCCATGCACTGCCCCCCCCGCCACCCCCCCATGC ACTGCCCCCCCCGCCACCCCCCCATGCACTGCCCCCCCCGCCACCCCCCC ATGCACTGCCCCCCCCGCCACCCCCCCATGCACTGCCCCCCCCCGCCACC CCCGCCACCCCTCCATGCACTGGCCCTCCCGCCACCCCGCCACCCCTCCA TGCACTGCCCCCCGCCACCCCCGCCACCCCCCCATGCACTGCCCCCCCCC GCCACCCCCCCATGCACTGCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	356	0.0028	472	c.-48 others(483): Show c.-4862_-4861insGGGGCAGTGCATGGGGGGGTGGCGGGGGGGGGCA GTGCATGGGGGGGTGGCGGGGGTGGCGGGGGGCAGTGCATGGAGGGGTGG CGGGGTGGCGGGAGGGCCAGTGCATGGAGGGGTGGCGGGGGTGGCGGGGG GGGGCAGTGCATGGGGGGGTGGCGGGGGGGGCAGTGCATGGGGGGGTGGC GGGGGGGGCAGTGCATGGGGGGGTGGCGGGGGGGGCAGTGCATGGGGGGG TGGCGGGGGGGGCAGTGCATGGGGGGGTGGCGGGGGGGGCAGTGCATGGG GGGGTGGCGGGGGGGGCAGTGCATGGGGGGGTGGCGGGGGGGGCAGTGCA TGGGGGGGTGGCGGGGGGGGCAGTGCATGGGGGGGTGGCGGGGTGGCGGG GGGCAGTGCATGGAGGGGTGGCGGGGTGGCGGGAGGGCCAGTGCATGGAG GGGTGGCGGGGTGGCGGGGGGGGCAGTGCATGGGGGGG	LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding		4832		chr9	TogoVar
LMF2_chr22_50497949_50512702	50504238	C C	CCCCCGGT others(465): Show CCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCC CCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCC CCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACGCCCCCCCCCC CGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCG GTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCGGT GCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCAGTGCCCG GCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCGGTGCCCGGCCT TACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCGGTGCCCGGCCTTA CCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCGGCCTTACCCCTGC ACCCCGGGCTCCACACCCCCCCT	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0267 a0001c0010t0001g0267	1	414	0.0024	472	c.171 others(489): Show c.1718+101_1718+102insAGGGGGGGTGTGGAGCCCGGGGTGCAGG GGTAAGGCCGGGCACCGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGG CCGGGCACCGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCC GGGCACCGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGC ACTGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACCGG GGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACCGGGG GGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACCGGGGGG GGGGGCGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACCGGGGGGG GGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACCGGGGGGGGG GGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACCGGGG	LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13			chr22	TogoVar
LRP8_chr1_53237364_53333070	53284196	T T	TACTTACC others(465): Show TACTTACCTACTGCATACCCGGGCCGCTTACTTACCTACTGCATACCCGG GCCGCTTACTTACCTACTGCATACCCGGGCCGCTTACTTACCTACTGCAT ACCCGGGCCGCTTACTTACCTACTGCATACCCGGGCCGCTTACTTACCTA CTGCATACCCGGGCCGCTTACTTACCTACTGCATACCCGGGCCGCTTACT TACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCG CTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCC GGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTAC ATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACC TACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA CTTACCTACTACATACCCGGGCC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01167.hp2 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0226 a0001c0001t0004g0235 a0001c0001t0001g0226 a0001c0001t0004g0235	2	296	0.0068	472	c.368 others(489): Show c.368-3482_368-3481insGGCCCGGGTATGTAGTAGGTAAGTAAGC GGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAA GTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGT AGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTA TGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCC CGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAA GCGGCCCGGGTATGCAGTAGGTAAGTAAGCGGCCCGGGTATGCAGTAGGT AAGTAAGCGGCCCGGGTATGCAGTAGGTAAGTAAGCGGCCCGGGTATGCA GTAGGTAAGTAAGCGGCCCGGGTATGCAGTAGGTAAGTAAGCGGCCCGGG TATGCAGTAGGTAAGTAAGCGGCCCGGGTATGCAGTAGGTAAGT	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LUZP2_chr11_24492053_25087638	24602247	T T	TATATGTA others(465): Show TATATGTACATATATGTGTATATATGTATATATGTACATATATGTATATA TGTACATATATGTGTATATATGTATATATATGCAAACATATATGTGTATA TATGTGTATATATGCAAACATATATGTGTATATATGTATATATATGCAAA CATATATGTACATACGTATATACACACATATATATGTACATACATATATA CACACATATATATGTACATACATATATACACACATATATATGTACATACA TATATACACACATATATATGTACATACATATATACACACATATATATGTA CATACATATATACACACATATATATGTACATACATATATACACACATATA TATGTACATACATATATGCACACATATATATGTACATACATATATGCACA CATATATATGTACATACATATATGCACACATATATATGTACATACATATA TGCACACATATATATGTACATAC	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0057 a0002c0002t0001g0057	1	116	0.0086	472	c.62+ others(491): Show c.62+104946_62+104947insGTACATATATGTGTATATATGTATAT ATGTACATATATGTATATATGTACATATATGTGTATATATGTATATATAT GCAAACATATATGTGTATATATGTGTATATATGCAAACATATATGTGTAT ATATGTATATATATGCAAACATATATGTACATACGTATATACACACATAT ATATGTACATACATATATACACACATATATATGTACATACATATATACAC ACATATATATGTACATACATATATACACACATATATATGTACATACATAT ATACACACATATATATGTACATACATATATACACACATATATATGTACAT ACATATATACACACATATATATGTACATACATATATGCACACATATATAT GTACATACATATATGCACACATATATATGTACATACATATATGCACACAT ATATATGTACATACATATATGCACACATATATATGTACATACATAT	LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
MADCAM1_chr19_491486_510343	496853	G G	GGGGGCGC others(465): Show GGGGGCGCAGGAGAGAGCAGGGGGCGCAGGAGAGAGGAGGGGGCGCGGGA GAGGGGAGGGGGCGCGGGAGAGGGGAGGGGGCTCGGGGGAGAGGAAGGGG CGCGGTGAGCGGGGAGGGGACGCGGGAGAGAGAAGGGAGTTAGGAGGGGG CTCAGGAGAGGGGAGGGGGCTCAGTAGAGTGGGGGGGCTCAGGAGAGAGG AGGGACGCAGGAGAGAGGAGGGGCGCAGGGGAGAGGAGGGGCGCAGGAGA GAGGAGGGGGCGCAGGAGAGTGGAGGGGGCGCGGGAGAGAGGAGGGGGCG CGGGAGAGGGGAGGGGGCTCGGGGGAGAGGAAGGGGCGCGGTGAGCGGGG AGGGGACGCGGGAGAGAGAAGGGAGTTAGGAGGGGGCTCAGGAGAGGGGA GGGGGCTCAGTAGAGTGGGGGGGCTCAGGAGAGAGGAGGGACGCAGGAGA GAGGAGGGGCGCAGGGGAGAGGA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	364	0.0028	472	c.52+ others(485): Show c.52+318_52+319insCAGGGGGCGCAGGAGAGAGGAGGGGGCGCGGG AGAGGGGAGGGGGCGCGGGAGAGGGGAGGGGGCTCGGGGGAGAGGAAGGG GCGCGGTGAGCGGGGAGGGGACGCGGGAGAGAGAAGGGAGTTAGGAGGGG GCTCAGGAGAGGGGAGGGGGCTCAGTAGAGTGGGGGGGCTCAGGAGAGAG GAGGGACGCAGGAGAGAGGAGGGGCGCAGGGGAGAGGAGGGGCGCAGGAG AGAGGAGGGGGCGCAGGAGAGTGGAGGGGGCGCGGGAGAGAGGAGGGGGC GCGGGAGAGGGGAGGGGGCTCGGGGGAGAGGAAGGGGCGCGGTGAGCGGG GAGGGGACGCGGGAGAGAGAAGGGAGTTAGGAGGGGGCTCAGGAGAGGGG AGGGGGCTCAGTAGAGTGGGGGGGCTCAGGAGAGAGGAGGGACGCAGGAG AGAGGAGGGGCGCAGGGGAGAGGAGGGGCGCAGGAGAGAG	MADCAM1	ENSG00000099866.16	transcript	ENST00000215637.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
MAGEF1_chr3_184705364_184717064	184712991	G G	GCCTTCCT others(465): Show GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC CTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTT TCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	456	0.0022	472	c.-11 others(483): Show c.-1171_-1170insAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAA GGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAA AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	MAGEF1	ENSG00000177383.5	transcript	ENST00000317897.5	protein_coding		928		chr3	TogoVar
MALRD1_chr10_19043801_19739478	19238066	T T	TATAATTA others(465): Show TATAATTATCTGTAATTTTATATAGTTATATATAATTATCTGTAATTTTA TATAGTTATATATAATTATATGTAATTTTATATGGTTATATAATTATACG TAGTTTTACATAGTTATATATAGTTATAACTATATGTAGTTATATATAAT TATATATAATTATATATAATTTATATACTTATAAATATGTAATTATATAT GTTATAATTATAAATATATATAATATAAATATACAATACATTTTATATAA TATATAATATATAGTATAATACAAAATATACATTATAATATATTATAATA TATAATATATAATACATATATTATAATATATAATATATAATACATATATT ATATAAAAATACTATAATATATAATAATATATATTATAATATATAATATA TAATAATATATTATAATATATATTATAATATAGTATAATATATATATTAT AATTTATACTATATATAATATAA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG03669.hp2 NA19043.hp2 HG01256.hp1 HG03669.hp2 NA19043.hp2	a0040 a0084 a0094 a0040 a0084 a0094	a0040c0032 a0084c0030 a0094c0031 a0040c0032 a0084c0030 a0094c0031	a0040c0032t0001 a0084c0030t0001 a0094c0031t0001 a0040c0032t0001 a0084c0030t0001 a0094c0031t0001	a0040c0032t0001g0124 a0084c0030t0001g0125 a0094c0031t0001g0136 a0040c0032t0001g0124 a0084c0030t0001g0125 a0094c0031t0001g0136	3	152	0.0197	472	c.299 others(493): Show c.2992-19616_2992-19615insAATTATCTGTAATTTTATATAGTT ATATATAATTATCTGTAATTTTATATAGTTATATATAATTATATGTAATT TTATATGGTTATATAATTATACGTAGTTTTACATAGTTATATATAGTTAT AACTATATGTAGTTATATATAATTATATATAATTATATATAATTTATATA CTTATAAATATGTAATTATATATGTTATAATTATAAATATATATAATATA AATATACAATACATTTTATATAATATATAATATATAGTATAATACAAAAT ATACATTATAATATATTATAATATATAATATATAATACATATATTATAAT ATATAATATATAATACATATATTATATAAAAATACTATAATATATAATAA TATATATTATAATATATAATATATAATAATATATTATAATATATATTATA ATATAGTATAATATATATATTATAATTTATACTATATATAATATAAAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	18/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MBNL3_chrX_132364320_132494038	132396705	T T	TATATATA others(465): Show TATATATATATTCATATATAGATTCATATATATATTCATATATAGATTCA TATATATTCATATATAGATTCATATATATTCATATATAGATTCATATATA TATTCATATATATATTCATATATATTCATATATATATTCATATATATATT CATATATATATTCATATATATTCATATATATATTCATATATATTCATATA TATATTCATATATATATTCATATATATTCATATATATTCATATATATATT CATATATATATTCATATATATATTCATATATATTCATATATATATTCATA TATATATTCATATATATTCATATATATATTCATATATATTCATATATATT CATATATATTCATATATATATTCATATATATTCATATATATATTCATATA TATTCATATATATATTCATATATATTCATATATATATTCATATATATTCA TATATATATTCATATATATATTC	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	191	0.0052	472	c.343 others(489): Show c.343-4372_343-4371insGAATATATATATGAATATATATATGAAT ATATATGAATATATATATGAATATATATGAATATATATATGAATATATAT GAATATATATATGAATATATATGAATATATATATGAATATATATGAATAT ATATGAATATATATGAATATATATATGAATATATATGAATATATATATGA ATATATATATGAATATATATGAATATATATATGAATATATATATGAATAT ATATATGAATATATATGAATATATATGAATATATATATGAATATATATAT GAATATATATGAATATATATATGAATATATATGAATATATATATGAATAT ATATATGAATATATATATGAATATATATGAATATATATATGAATATATAT ATGAATCTATATATGAATATATATGAATCTATATATGAATATATATGAAT CTATATATGAATATATATATGAATCTATATATGAATATATATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBNL3_chrX_132364320_132494038	132396717	T T	TATATATA others(465): Show TATATATATATTCATATATAGATTCATATATATATTCATATATAGATTCA TATATATTCATATATAGATTCATATATATTCATATATAGATTCATATATA TATTCATATATATATTCATATATATATTCATATATATATTCATATATATT CATATATATATTCATATATATATTCATATATATATTCATATATATATTCA TATATATATTCATATATATTCATATATATTCATATATATATTCATATATA TATTCATATATATATTCATATATATTCATATATATATTCATATATATATT CATATATATATTCATATATATTCATATATATTCATATATATATTCATATA TATTCATATATATATTCATATATATTCATATATATATTCATATATATATT CATATATATATTCATATATATTCATATATATTCATATATATATTCATATA TATATATATTCATATATATATTC	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	191	0.0052	472	c.343 others(489): Show c.343-4384_343-4383insGAATATATATATGAATATATATATATAT GAATATATATATGAATATATATGAATATATATGAATATATATATGAATAT ATATATGAATATATATATGAATATATATGAATATATATATGAATATATAT GAATATATATATGAATATATATGAATATATATGAATATATATATGAATAT ATATATGAATATATATATGAATATATATGAATATATATATGAATATATAT ATGAATATATATATGAATATATATGAATATATATGAATATATATATGAAT ATATATATGAATATATATATGAATATATATATGAATATATATATGAATAT ATATGAATATATATATGAATATATATATGAATATATATATGAATATATAT ATGAATCTATATATGAATATATATGAATCTATATATGAATATATATGAAT CTATATATGAATATATATATGAATCTATATATGAATATATATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBNL3_chrX_132364320_132494038	132396745	T T	TATTCATA others(465): Show TATTCATATATAGATTCATATATATTCATATATAGATTCATATATATTCA TATATAGATTCATATATATATTCATATATATATTCATATATATTCATATA TATATTCATATATATATTCATATATATATTCATATATATTCATATATATA TTCATATATATATTCATATATATTCATATATATATTCATATATATTCATA TATATTCATATATATATTCATATATATATTCATATATATATTCATATATA TTCATATATATATTCATATATATATTCATATATATATTCATATATATATT CATATATATATTCATATATATATTCATATATATTCATATATATTCATATA TATATTCATATATATTCATATATATATTCATATATATTCATATATATATT CATATATATATTCATATATATTCATATATATTCATATATATATTCATATA TATATATATTCATATATATATTC	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	191	0.0052	472	c.343 others(489): Show c.343-4412_343-4411insGAATATATATATGAATATATATATATAT GAATATATATATGAATATATATGAATATATATGAATATATATATGAATAT ATATATGAATATATATGAATATATATATGAATATATATGAATATATATAT GAATATATATGAATATATATGAATATATATATGAATATATATATGAATAT ATATATGAATATATATATGAATATATATATGAATATATATATGAATATAT ATGAATATATATATGAATATATATATGAATATATATATGAATATATATGA ATATATATGAATATATATATGAATATATATGAATATATATATGAATATAT ATATGAATATATATGAATATATATATGAATATATATATGAATATATATAT GAATATATATGAATATATATATGAATATATATATGAATCTATATATGAAT ATATATGAATCTATATATGAATATATATGAATCTATATATGAAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MMD2_chr7_4900998_4964187	4960054	G G	GTGGGAAG others(465): Show GTGGGAAGTGGGGGTGTTGGAGGGAGTGGGGGACCTGGGGGTGGAGGGAG TGGGAAGTGGGGGTGTTGGGGGGGGAGTGAGGGGGTTAGTGGGAAGAGAG GGACTTGGAGGTTGGGGGAGTGGGAAGTGGGGGTGTTGGAGGGAGTGGGG GACCTGGGGGTGGGGGGAGTGGGAAGTGGGGGTGTTGGGGGGGAGTGAGG GGGTTAGTGGGAAGAGAGGGACTTGGAGGTTGGGGGAGTGGGAAGTGGGG GTGTTGGAGGGAGTGGGGGACCTGGGGGTGGGGGGAGTGGGAAGTGGGGG TGTTGGGGGGGAGTGAGGGGGTTAGTGGGAAGAGAGGGACTTGGAGGTTG GGGGAGTGGGAAGTGGGGGTGTTGGAGGGAGTGGGGGACCTGGGGGTGGG GGGAGTGGGAAGTGGGGGTGTTGGGGGGGAGTGAGGGGGTTAGTGGGAAG AGAGGGACTTGGAGGTTGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02647.hp1 HG03516.hp2 others(1): Show HG02145.hp1 HG02647.hp1 HG03516.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0249 a0001c0002t0001g0103 a0001c0002t0001g0104 others(1): Show a0001c0001t0001g0249 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0105	4	382	0.0105	472	c.-10 others(483): Show c.-1038_-1037insTCCCCCAACCTCCAAGTCCCTCTCTTCCCACTAA CCCCCTCACTCCCCCCCAACACCCCCACTTCCCACTCCCCCCACCCCCAG GTCCCCCACTCCCTCCAACACCCCCACTTCCCACTCCCCCAACCTCCAAG TCCCTCTCTTCCCACTAACCCCCTCACTCCCCCCCAACACCCCCACTTCC CACTCCCCCCACCCCCAGGTCCCCCACTCCCTCCAACACCCCCACTTCCC ACTCCCCCAACCTCCAAGTCCCTCTCTTCCCACTAACCCCCTCACTCCCC CCCAACACCCCCACTTCCCACTCCCCCCACCCCCAGGTCCCCCACTCCCT CCAACACCCCCACTTCCCACTCCCCCAACCTCCAAGTCCCTCTCTTCCCA CTAACCCCCTCACTCCCCCCCCAACACCCCCACTTCCCACTCCCTCCACC CCCAGGTCCCCCACTCCCTCCAACACCCCCACTTCCCA	MMD2	ENSG00000136297.15	transcript	ENST00000401401.8	protein_coding		868		chr7	TogoVar
MPPED1_chr22_43407014_43512848	43432638	A A	AGGGAGGA others(465): Show AGGGAGGAGAGAGAGGGAAAGAGAGAGAGAAGGGGAGGAGAGAGAGAAAG GGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAA GGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAG AAAGGGAGGAGAGAGAGAGGGAAAGAGAAAGGGAGGAGAGAGAGGGAAAG AGAGAAGGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGAGAGAGA GAGAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAG AGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGGAG GAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGG GAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAA AGGGAGGAGAGAGAGAAAGGGAG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0026 a0001c0001t0006g0026	1	250	0.0040	472	c.225 others(489): Show c.225-2395_225-2394insGGAGGAGAGAGAGGGAAAGAGAGAGAGA AGGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAG AAAGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGA GAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGGGAAAGAGAAA GGGAGGAGAGAGAGGGAAAGAGAGAAGGGGAGGAGAGAGAAAGGGAGGAG AGAGAGAGAAAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAAGGGAGGA GAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGA GGAGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAA AGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGA AAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MUSK_chr9_110663791_110811558	110690701	T T	TATATATA others(465): Show TATATATATTTATATATAAGTATATATATATTTATATATAAGTATATATA TATATTTATATATAAGTATATATATATATTTATATATAAGTATATATATA AATATATATATTTATATATAAGTATATATATATTTATATATAAGTATATA TAAATATATATATTTATATATAAGTATATATATATAAATATATATATTTA TATATAAGTATATATAAATATATATATTTATATATAAGTATATATAAATA TATATATTTATATATAAGTATATATAAATATATATATTTAAATATAAGTA TATATAAATATATATATTTAAATATAAGTATATATATAAATATATATTTA AATATAAGTATATATAAATATATATTTAAATATAAGTATATATATAAATA TATATTTAAATATAAGTATATATATAAATATAAGTATATATATAAATATA TATTTAAATATAAGTATATATAA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18957.hp1 NA18975.hp2 NA18948.hp1 NA18957.hp1 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0057 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0001g0057 a0001c0001t0003g0055 a0001c0001t0003g0056	3	326	0.0092	472	c.358 others(489): Show c.358+3444_358+3445insTATATAAGTATATATATATTTATATATA AGTATATATATATATTTATATATAAGTATATATATATATTTATATATAAG TATATATATAAATATATATATTTATATATAAGTATATATATATTTATATA TAAGTATATATAAATATATATATTTATATATAAGTATATATATATAAATA TATATATTTATATATAAGTATATATAAATATATATATTTATATATAAGTA TATATAAATATATATATTTATATATAAGTATATATAAATATATATATTTA AATATAAGTATATATAAATATATATATTTAAATATAAGTATATATATAAA TATATATTTAAATATAAGTATATATAAATATATATTTAAATATAAGTATA TATATAAATATATATTTAAATATAAGTATATATATAAATATAAGTATATA TATAAATATATATTTAAATATAAGTATATATAAATATATATTTA	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690701	T T	TATATATA others(465): Show TATATATATTTATATATAAGTATATATATATTTATATATAAGTATATATA TATATTTATATATAAGTATATATATATATTTATATATAAGTATATATATA AATATATATATTTATATATAAGTATATATATATTTATATATAAGTATATA TAAATATATATATTTATATATAAGTGTATATATATAAATATATATATTTA TATATAAGTATATATAAATATATATATTTATATATAAGTATATATAAATA TATATATTTATATATAAGTATATATAAATATATATATTTAAATATAAGTA TATATAAATATATATATTTAAATATAAGTATATATATAAATATATATTTA AATATAAGTATATATAAATATATATTTAAATATAAGTATATATATAAATA TATATTTAAATATAAGTATATATATAAATATAAGTATATATATAAATATA TATTTAAATATAAGTATATATAA	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02451.hp1 HG01993.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0003 a0001c0001t0009	a0001c0001t0003g0037 a0001c0001t0009g0027 a0001c0001t0003g0037 a0001c0001t0009g0027	2	326	0.0061	472	c.358 others(489): Show c.358+3444_358+3445insTATATAAGTATATATATATTTATATATA AGTATATATATATATTTATATATAAGTATATATATATATTTATATATAAG TATATATATAAATATATATATTTATATATAAGTATATATATATTTATATA TAAGTATATATAAATATATATATTTATATATAAGTGTATATATATAAATA TATATATTTATATATAAGTATATATAAATATATATATTTATATATAAGTA TATATAAATATATATATTTATATATAAGTATATATAAATATATATATTTA AATATAAGTATATATAAATATATATATTTAAATATAAGTATATATATAAA TATATATTTAAATATAAGTATATATAAATATATATTTAAATATAAGTATA TATATAAATATATATTTAAATATAAGTATATATATAAATATAAGTATATA TATAAATATATATTTAAATATAAGTATATATAAATATATATTTA	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MYT1L_chr2_1784113_2336275	1952717	T T	TCCTTCCT others(465): Show TCCTTCCTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCT TCTCTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCT CTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTT CCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCC TCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCC CTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTC CCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCCCT CTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCCCTTTCTTTC CTTCCCTCCTTCCTTTCCTTCCCTTCTTTCCCTCCTTCCTTCCTTTCCCT TCCTTCCCTTCCCTCCTTCCTTC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0018 a0001c0007t0018	a0001c0007t0018g0068 a0001c0007t0018g0068	1	104	0.0096	472	c.153 others(489): Show c.153-9384_153-9383insGAAGGAAGGAGGGAAGGGAAGGAAGGGA AAGGAAGGAAGGAGGGAAAGAAGGGAAGGAAAGGAAGGAGGGAAGGAAAG AAAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAGAGGGA GGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAGGGGGAGGGAGGG AGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAGGGGGAGGGAGGGAGG GAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAGGGGGAGGGAGGGAGGGAA GAGAAGGAGGGAGGGAGAGAGGGAGGAAGGGGGAGGGAGGGAGGGAAGAG AAGGAGGGAGGGAGAGAGGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAG GAGGGAGGGAGAGAGGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAG GGAGGGAGAGAGGGAGGAAGGGGGAGGGAGGGAGGGAAGGAAGG	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	8/24			chr2	TogoVar
NBDY_chrX_56724243_56824179	56725501	G G	GTAACAAT others(465): Show GTAACAATATTGTTATATTGTTATATATACATATAACAATATTGTTATAT TGTTATATATACATATAACAATATTGTTATATTGTTATATATACATATAA CAATATTGTTATATTGTTATATATACATATAACAATATTGTTATATTGTT ATATATACATATAACAATATTGTTATATTGTTATATATACATATAACAAT ATTGTTATATTGTTATATATACATATAACAATATTGTTATATTGTTATAT ATACATATAACAATATTGTTATATTGTTATATATACATATAACAATATTG TTATATTGTTATATATACATATAACAATATTGTTATATTGTTATATATAC ATATAACAATATTGTTATATTGTTATATATACATATAACAATATTGTTAT ATTGTTATATATACATATAACAATATTGTTATATATACATATAACAATAT TGTTATATTGTTATATATACATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0040 a0001c0001t0003g0040	1	160	0.0063	472	c.-38 others(483): Show c.-3853_-3852insTAACAATATTGTTATATTGTTATATATACATATA ACAATATTGTTATATTGTTATATATACATATAACAATATTGTTATATTGT TATATATACATATAACAATATTGTTATATTGTTATATATACATATAACAA TATTGTTATATTGTTATATATACATATAACAATATTGTTATATTGTTATA TATACATATAACAATATTGTTATATTGTTATATATACATATAACAATATT GTTATATTGTTATATATACATATAACAATATTGTTATATTGTTATATATA CATATAACAATATTGTTATATTGTTATATATACATATAACAATATTGTTA TATTGTTATATATACATATAACAATATTGTTATATTGTTATATATACATA TAACAATATTGTTATATTGTTATATATACATATAACAATATTGTTATATA TACATATAACAATATTGTTATATTGTTATATATACATA	NBDY	ENSG00000204272.13	transcript	ENST00000374922.9	protein_coding		3741		chrX	TogoVar
NCOR2_chr12_124319415_124572612	124438778	C C	CAGAGAGA others(465): Show CAGAGAGAGAGAGAGAGAGAGAGAGACGGAGACCCAGAGAGACAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACGGAGACCCAGA GAGAGGGAGACAGAGACCCAGAGACAGAGGGAGACAGAGACCCAGAGACA GAGGAAGACAGAGACCCAGAGAGAGGGAGACAGAGACCCAGAGAGAGACA GACGGAGACCCAGAGACAGAGGGAGAGAGAGACCCAGAGACAGAGGGAGA CAGAGACCCAGAGAGAGAGAGATGGAGACCCTGAGACAGAGGGAGACAGA GACCCAGAGAGAGAAACAGAGACCCAGAGACAGAGGGAGAGACAGAGACC CAGAGACAGAGACCCAGAGAGACAGGGAAACAGAGAACCAGAGAGAGAGA GAGAGACAGAGACCCAGAGAGACAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGACAGAGACCCAGAGAGACAG	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0004 a0004	a0004c0015 a0004c0015	a0004c0015t0031 a0004c0015t0031	a0004c0015t0031g0064 a0004c0015t0031g0064	1	234	0.0043	472	c.816 others(487): Show c.816-783_816-782insCTGTCTCTCTGGGTCTCTGTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTGTCTCTCTGGGTCTCTGTCTCTCTCTCTCT CTCTGGTTCTCTGTTTCCCTGTCTCTCTGGGTCTCTGTCTCTGGGTCTCT GTCTCTCCCTCTGTCTCTGGGTCTCTGTTTCTCTCTCTGGGTCTCTGTCT CCCTCTGTCTCAGGGTCTCCATCTCTCTCTCTCTGGGTCTCTGTCTCCCT CTGTCTCTGGGTCTCTCTCTCCCTCTGTCTCTGGGTCTCCGTCTGTCTCT CTCTGGGTCTCTGTCTCCCTCTCTCTGGGTCTCTGTCTTCCTCTGTCTCT GGGTCTCTGTCTCCCTCTGTCTCTGGGTCTCTGTCTCCCTCTCTCTGGGT CTCCGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT GTCTCTCTGGGTCTCCGTCTCTCTCTCTCTCTCTCTCTCTCT	NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding	9/48			chr12	TogoVar
NCOR2_chr12_124319415_124572612	124438778	C C	CAGAGAGA others(465): Show CAGAGAGAGAGAGAGAGAGAGAGAGACGGAGACCCAGAGAGACAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACGGAGACCCAGA GAGAGGGAGACAGAGACCCAGAGACAGAGGGAGACAGAGACCCAGAGACA GAGGAAGACAGAGACCCAGAGAGAGGGAGACAGAGACCCAGAGAGAGAGA GACGGAGACCCAGAGACAGAGGGAGAGAGAGACCCAGAGACAGAGGGAGA CAGAGACCCAGAGAGAGAGAGATGGAGACCCTGAGACAGAGGGAGACAGA GACCCAGAGAGAGAAACAGAGACCCAGAGACAGAGGGAGAGACAGAGACC CAGAGACAGAGACCCAGAGAGACAGGGAAACAGAGAACCAGAGAGAGAGA GAGAGACAGAGACCCAGAGAGACAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGACAGAGACCCAGAGAGACAG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01074.hp2 HG01496.hp2 others(7): Show HG00642.hp1 HG01074.hp2 HG01496.hp2 HG01934.hp2 HG02071.hp2 HG02165.hp1 HG03540.hp2 HG04184.hp1 NA18941.hp2 NA19240.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0031 a0036	a0001c0095 a0002c0013 a0002c0120 others(6): Show a0001c0095 a0002c0013 a0002c0120 a0002c0164 a0004c0007 a0004c0027 a0004c0100 a0031c0083 a0036c0144	a0001c0095t0001 a0002c0013t0020 a0002c0120t0018 others(7): Show a0001c0095t0001 a0002c0013t0020 a0002c0120t0018 a0002c0164t0005 a0004c0007t0039 a0004c0027t0019 a0004c0027t0037 a0004c0100t0005 a0031c0083t0003 a0036c0144t0002	a0001c0095t0001g0144 a0002c0013t0020g0092 a0002c0120t0018g0141 others(7): Show a0001c0095t0001g0144 a0002c0013t0020g0092 a0002c0120t0018g0141 a0002c0164t0005g0219 a0004c0007t0039g0201 a0004c0027t0019g0085 a0004c0027t0037g0124 a0004c0100t0005g0164 a0031c0083t0003g0222 a0036c0144t0002g0024	10	234	0.0427	472	c.816 others(487): Show c.816-783_816-782insCTGTCTCTCTGGGTCTCTGTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTGTCTCTCTGGGTCTCTGTCTCTCTCTCTCT CTCTGGTTCTCTGTTTCCCTGTCTCTCTGGGTCTCTGTCTCTGGGTCTCT GTCTCTCCCTCTGTCTCTGGGTCTCTGTTTCTCTCTCTGGGTCTCTGTCT CCCTCTGTCTCAGGGTCTCCATCTCTCTCTCTCTGGGTCTCTGTCTCCCT CTGTCTCTGGGTCTCTCTCTCCCTCTGTCTCTGGGTCTCCGTCTCTCTCT CTCTGGGTCTCTGTCTCCCTCTCTCTGGGTCTCTGTCTTCCTCTGTCTCT GGGTCTCTGTCTCCCTCTGTCTCTGGGTCTCTGTCTCCCTCTCTCTGGGT CTCCGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT GTCTCTCTGGGTCTCCGTCTCTCTCTCTCTCTCTCTCTCTCT	NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding	9/48			chr12	TogoVar
NFILZ_chr19_8625633_8686151	8656482	C C	CAGCGCAC others(465): Show CAGCGCACCTCCTCCCTGAAGCCCCCTTCTTCCTGAAGCCCACCTCTTCC CTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCTGCAGCCCACCTTC TCTCTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCTGCAGCCCACC TTCTCTCTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCTGCAGCCC ACCTTCTCTCTGAAGCCCACCTTCTCCCGCAGCCCACCTTCTCTCTGAAA CCCACCTCTTTCCGCAGCCCACCTTCTCCTGCAGCCCACCTTCTCCTGAA GCCCACCTTCTCCCTGAAGCCCACCTTCTCCCGCAGCCCACCTTCTCCTG CAGCCCACCTTCTCTCTGAAGCCCACCTTCTCCCGCAGCCCACCTTCTCT CTGAAACCCACCTCTTTCCGCAGCCCACCTTCTCCTGCAGCCCACCTTCT CCTGAAGCCCACCTTCTCCCTGA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0282 a0001c0001t0026g0282	1	366	0.0027	472	c.-16 others(493): Show c.-163-18066_-163-18065insGCACCTCCTCCCTGAAGCCCCCTT CTTCCTGAAGCCCACCTCTTCCCTGAAGCCCACCTCTTCCCTGAAGCCCA CCTTCTCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTCTTCCCTGAAGC CCACCTTCTCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTCTTCCCTGA AGCCCACCTTCTCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTTCTCCC GCAGCCCACCTTCTCTCTGAAACCCACCTCTTTCCGCAGCCCACCTTCTC CTGCAGCCCACCTTCTCCTGAAGCCCACCTTCTCCCTGAAGCCCACCTTC TCCCGCAGCCCACCTTCTCCTGCAGCCCACCTTCTCTCTGAAGCCCACCT TCTCCCGCAGCCCACCTTCTCTCTGAAACCCACCTCTTTCCGCAGCCCAC CTTCTCCTGCAGCCCACCTTCTCCTGAAGCCCACCTTCTCCCTGAAGC	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NHLRC4_chr16_562005_574495	571108	T T	TGTCTGGC others(465): Show TGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTG TCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTG TCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTG TGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTG TATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTG TGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGG TGCCCGTGTGTGTGTGTGGGGGGCGGGGCTAGCCTTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCC TGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTG TGTGTCTGGCTAGCCTGGCACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	424	0.0024	472	c.26 others(483): Show c.2689_*2690insGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGC CTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGC CTGTGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGT ATGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGT GCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCT AGCCTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGC CCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGGGGGGCGGGGCTAGCCT TGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTG TGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGT GTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCC	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1614		chr16	TogoVar
NHLRC4_chr16_562005_574495	571108	T T	TGTCTGGC others(465): Show TGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTG TCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTG TCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTG TGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTG TATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTG TGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGG TGCCCGTGTGTGTGTGTGGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCC TGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTG TGTGTCTGGCTAGCCTGGCACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp1 NA18971.hp1 NA18951.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	424	0.0047	472	c.26 others(483): Show c.2689_*2690insGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGC CTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGC CTGTGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGT ATGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGT GCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCT AGCCTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGC CCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGCTAGCCT TGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTG TGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGT GTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCC	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1614		chr16	TogoVar
NHLRC4_chr16_562005_574495	571108	T T	TGTCTGGC others(465): Show TGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTG TCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTG TCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTG TGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTG TATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTG TGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGG TGCCCGTGTGTGTGTGTGTGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCC TGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTG TGTGTCTGGCTAGCCTGGCACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	424	0.0024	472	c.26 others(483): Show c.2689_*2690insGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGC CTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGC CTGTGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGT ATGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGT GCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCT AGCCTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGC CCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGTGGGGGGGGGCTAGCCT TGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTG TGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGT GTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCC	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1614		chr16	TogoVar
NHLRC4_chr16_562005_574495	571108	T T	TGTGTGTC others(465): Show TGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTG TGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTG TGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTG TGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTG TGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGCC TGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGC CTGGTGCCCGTGTGTGTGTGGGGGGGGGGGGGCTAGCCTTGTGTGTGTGT GTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCT AGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTG TGTGTCTGGCTAGCCTGGCACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	424	0.0024	472	c.26 others(483): Show c.2689_*2690insGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGC TAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGC TAGCCTGTGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGT GTGTATGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCC TGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGT GGCTAGCCTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTG GTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGGGGGGGGGGGGGCTA GCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTG TGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCC GTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCC	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1614		chr16	TogoVar
NME4_chr16_392199_405754	397716	G G	GTGAGGGA others(465): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGGC	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0147 a0001c0002t0001g0147	1	356	0.0028	472	c.91+ others(485): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGGCTGAGGGAGTCGGGGGGTGGGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NRDE2_chr14_90262860_90336941	90300885	G G	GGGGAGGG others(465): Show GGGGAGGGGGGAGGGAGGAGGGAGGAGGGGAGGGGGAGGGAGGGGGAGGG GAGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGGAGGG GTGGGGGAGGGAGAGGGGAAAGGGAGAGGGGAAAGGGAGGGGATGGGGGA GGGAGAAGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGG AGGGGGAGGGGAGGGGGAGGGGAAAGGGGGAAGGGAGAAGGGGGAGGGGG AGGGGAAGGGGAGGAAGAGGGGAGGGGAGGAGGAAGGGGGAGGGGGAGGG GAGGAGGAAGGGGGAGGGGGAGGGGGAGGGGAAAGGAGGAGGAAGGGGGA GGGGGAAGGGGAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGAGGGGGAA GGGAGGGGAGGGGAGGAGGGGGGAGGGAGAGGGGAGGGGAGGAAGAAGGG GAAGGGGGAGGGGAGGGGAGGAA	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0196 a0002c0002t0005g0196	1	344	0.0029	472	c.154 others(489): Show c.1545+353_1545+354insTTCCTCCCCTCCCCTCCCCCTTCCCCTT CTTCCTCCCCTCCCCTCTCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCC CCTCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCC CTTCCTCCTCCTTTCCCCTCCCCCTCCCCCTCCCCCTTCCTCCTCCCCTC CCCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTTCCCCTCCCCC TCCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCCTCCCCTCCCCCTCCCCC TCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCTTCTCCCTCCCC CATCCCCTCCCTTTCCCCTCTCCCTTTCCCCTCTCCCTCCCCCACCCCTC CCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCCCTC CCCCTCCCTCCCCCTCCCCTCCTCCCTCCTCCCTCCCCCCTCCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NRDE2_chr14_90262860_90336941	90300885	G G	GGGGAGGG others(465): Show GGGGAGGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGGGGGAGGGGA GGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGGAGGGG TGGGGGAGGGAGAGGGGAAAGGGAGAGGGGAAAGGGAGGGGATGGGGGAG GGAGAAGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGA GGGGGAAGGGAGGGGGGAGGGGAAAGGGGGAAGGGAGAAGGGGGAGGGGG AGGGGAAGGGGAGGAAGAGGGGAGGGGAGGAGGAAGGGGGAGGGGGAGGG GAGGAGGAAGGGGGAGGGGGAGGGGGAGGGGAAAGGAGGAGGAAGGGGGA GGGGGAAGGGGAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGAGGGGGAA GGGAGGGGAGGGGAGGAGGGGGGAGGGAGAGGGGAGGGGAGGAAGAAGGG GAAGGGGGAGGGGAGGGGAGGAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0029 a0002c0002t0029	a0002c0002t0029g0033 a0002c0002t0029g0033	1	344	0.0029	472	c.154 others(489): Show c.1545+353_1545+354insTTCCTCCCCTCCCCTCCCCCTTCCCCTT CTTCCTCCCCTCCCCTCTCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCC CCTCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCC CTTCCTCCTCCTTTCCCCTCCCCCTCCCCCTCCCCCTTCCTCCTCCCCTC CCCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTTCCCCTCCCCC TCCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCCCTCCCTTCCCCCTCCCC CTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCTTCTCCCTCCC CCATCCCCTCCCTTTCCCCTCTCCCTTTCCCCTCTCCCTCCCCCACCCCT CCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCCCTCCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NRDE2_chr14_90262860_90336941	90300885	G G	GGGGAGGG others(465): Show GGGGAGGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGGGGGAGGGGA GGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGGAGGGG TGGGGGAGGGAGAGGGGAAAGGGAGAGGGGAAAGGGAGGGGATGGGGGAG GGAGAAGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGA GGGGGAGGGGAGGGGGAGGGGAAAGGGGGAAGGGAGAAGGGGGAGGGGGA GGGGAAGGGGAGGAAGAGGGGAGGGGAGGAGGAAGGGGGAGGGGGAGGGG AGGAGGAAGGGGGAGGGGGAGGGAGGAGGGGAAAGGAGGAGGAAGGGGGA GGGGGAAGGGGAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGAGGGGGAA GGGAGGGGAGGGGAGGAGGGGGGAGGGAGAGGGGAGGGGAGGAAGAAGGG GAAGGGGGAGGGGAGGGGAGGAA	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0088 a0002c0002t0005g0088	1	344	0.0029	472	c.154 others(489): Show c.1545+353_1545+354insTTCCTCCCCTCCCCTCCCCCTTCCCCTT CTTCCTCCCCTCCCCTCTCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCC CCTCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCC CTTCCTCCTCCTTTCCCCTCCTCCCTCCCCCTCCCCCTTCCTCCTCCCCT CCCCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTTCCCCTCCCC CTCCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCCTCCCCTCCCCCTCCCC CTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCTTCTCCCTCCC CCATCCCCTCCCTTTCCCCTCTCCCTTTCCCCTCTCCCTCCCCCACCCCT CCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCCCTCCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NRDE2_chr14_90262860_90336941	90300885	G G	GGGGAGGG others(465): Show GGGGAGGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGGGGGAGGGGA GGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGGAGGGG TGGGGGAGGGAGAGGGGAAAGGGAGAGGGGAAAGGGAGGGGATGGGGGAG GGAGAAGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGA GGGGGAGGGGAGGGGGAGGGGAAAGGGGGAAGGGAGAAGGGGGAGGGGGA GGGGAAGGGGAGGAAGAGGGGAGGGGAGGAGGAAGGGGGAGGGGGAGGGG AGGAGGAAGGGGGAGGGGGAGGGGGAGGGGAAAGGAGGAGGAAGGGGGAG GGGGAAGGGGAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGAGGGGGAAG GGAGGGGAGGGGAGGAGGGGGGGAGGGAGAGGGGAGGGGAGGAAGAAGGG GAAGGGGGAGGGGAGGGGAGGAA	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0051 a0002c0002t0051	a0002c0002t0051g0028 a0002c0002t0051g0028	1	344	0.0029	472	c.154 others(489): Show c.1545+353_1545+354insTTCCTCCCCTCCCCTCCCCCTTCCCCTT CTTCCTCCCCTCCCCTCTCCCTCCCCCCCTCCTCCCCTCCCCTCCCTTCC CCCTCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCC CCTTCCTCCTCCTTTCCCCTCCCCCTCCCCCTCCCCCTTCCTCCTCCCCT CCCCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTTCCCCTCCCC CTCCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCCTCCCCTCCCCCTCCCC CTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCTTCTCCCTCCC CCATCCCCTCCCTTTCCCCTCTCCCTTTCCCCTCTCCCTCCCCCACCCCT CCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCCCTCCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NXN_chr17_794310_984776	949373	G G	GCGGCCTC others(465): Show GCGGCCTCCTACTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCC TCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGC CTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCC CCGTGGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTC CTCTCCCCGTGGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGC CTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCC CCGCGGCCTCCTCCTCTCCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCC TCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCGCG GCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTC CCCGCGGCCTCCTCCTCTCCCCC	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0052 a0001c0001t0023g0052	1	242	0.0041	472	c.360 others(491): Show c.360+29945_360+29946insGGGGGAGAGGAGGAGGCCGCGGGGAG AGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGC GGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGA GGCAGGGGGGAGAGGAGGAGGCAGGGGGGGAGAGGAGGAGGCCGCGGGGA GAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCA GGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCCACGGGGAGAGGAG GAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCCACGGGGA GAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCA GGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGA GGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGTAGGAGGCCG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OR1F1_chr16_3183204_3211556	3197778	G G	GGAGGGAG others(465): Show GGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAG AGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAG GGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGG AGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAG AGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAG GGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAAGGAGAGGGAGAAGG AGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAG AGGGAGAGGAGAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGG AGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAG AGGGAGAAGGAGAGGGAGAAGGA	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0196 a0001c0001t0003g0196	1	328	0.0031	472	c.-12 others(489): Show c.-12-6353_-12-6352insAGGAGAGGGAGAGGGAGAAGGAGAGGGA GAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGA GGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGG GAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGA GAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGA AGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGAGAGGGAGAAGGAGAGGGA GAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGA GGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGG GAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGA GAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGA	OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
PCBP3_chr21_45638725_45947450	45896752	A A	AGACATGG others(465): Show AGACATGGCACATAGAACCAGAGATGCACTGCCCGGGCCATTGTCTCTGT AGGAAAGGCGGCCGCGGCACATAGAACCGGAGATGCACTGCCTGGGCCAT TGTCTCTGTAGGAAAGGCGGACATGGCACATAGAACCAGAGATGCACTGC CCGGGCCATTGTCTCTGTAGGAAAGGCAGACATGGCACATAGAACCAGAG ATGCACTGCCCGGGCCATTGGCACTGTAGGAAAGGCGGCCGCGGCACATA GAACCGGAGACGCACTGCCTGGGCCATTGTCTCTGTAGGAAAGGCAGACA TGGCACATAGAACCAGAGATGCACTGCCCGGGCCATTGGCACTGTAGGAA AGGCGGCCGCGGCACATAGAACCGGAGACGCACTGCCTGGGCCATTGTCT CTGTAGGAAAGGCAGACATGGCACATAGAACCGGAGATGCACTGCCCGGG CCATTGTCTCTGTAGGAAAGGCG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02630.hp1 HG03453.hp2 others(1): Show HG02559.hp1 HG02630.hp1 HG03453.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0209 a0001c0001t0002g0220 a0001c0001t0002g0242 others(1): Show a0001c0001t0002g0209 a0001c0001t0002g0220 a0001c0001t0002g0242 a0001c0001t0009g0009	4	292	0.0137	472	c.165 others(487): Show c.165+408_165+409insAGAGATGCACTGCCCGGGCCATTGTCTCTG TAGGAAAGGCGGCCGCGGCACATAGAACCGGAGATGCACTGCCTGGGCCA TTGTCTCTGTAGGAAAGGCGGACATGGCACATAGAACCAGAGATGCACTG CCCGGGCCATTGTCTCTGTAGGAAAGGCAGACATGGCACATAGAACCAGA GATGCACTGCCCGGGCCATTGGCACTGTAGGAAAGGCGGCCGCGGCACAT AGAACCGGAGACGCACTGCCTGGGCCATTGTCTCTGTAGGAAAGGCAGAC ATGGCACATAGAACCAGAGATGCACTGCCCGGGCCATTGGCACTGTAGGA AAGGCGGCCGCGGCACATAGAACCGGAGACGCACTGCCTGGGCCATTGTC TCTGTAGGAAAGGCAGACATGGCACATAGAACCGGAGATGCACTGCCCGG GCCATTGTCTCTGTAGGAAAGGCGGACATGGCACATAGAACC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45896962	C C	CGGGCCAT others(465): Show CGGGCCATTGTCTCTGTAGGAAAGGCAGACATGGCACATAGAACCGGAGA TGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCGGCCGCGGCACATAG AACTGGAGACGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCAGACAT GGCACATAGAACCGGAGATGCACTGCCCGGGCCATTGGCACTGTAGGAAA GGCGGCCGCGGCACATAGAACCAGAGATGCACTGCCCGGGCCATTGTCTC TGTAGGAAAGGCAGACATGGCACATAGAACCGGAGACGCACTGCCTGGGC CATTGTCTCTGTAGGAAAGGCAGACATGGCACATAGAAACAGAGATGCAC TGCCCGGGCCATTGTCTCTGTAGGAAAGGCGGCCGCGGCACATAGAACTG GAGACGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCAGACATGGCAC ATAGAACCGGAGATGCACTGCCT	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0271 a0001c0001t0002g0271	1	292	0.0034	472	c.165 others(487): Show c.165+625_165+626insAGACATGGCACATAGAACCGGAGATGCACT GCCCGGGCCATTGTCTCTGTAGGAAAGGCGGCCGCGGCACATAGAACTGG AGACGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCAGACATGGCACA TAGAACCGGAGATGCACTGCCCGGGCCATTGGCACTGTAGGAAAGGCGGC CGCGGCACATAGAACCAGAGATGCACTGCCCGGGCCATTGTCTCTGTAGG AAAGGCAGACATGGCACATAGAACCGGAGACGCACTGCCTGGGCCATTGT CTCTGTAGGAAAGGCAGACATGGCACATAGAAACAGAGATGCACTGCCCG GGCCATTGTCTCTGTAGGAAAGGCGGCCGCGGCACATAGAACTGGAGACG CACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCAGACATGGCACATAGAA CCGGAGATGCACTGCCTGGGCCATTGTCTCTGTAGGAAAGGC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45896962	C C	CGGGCCAT others(465): Show CGGGCCATTGTCTCTGTAGGAAAGGCAGACATGGCACATAGAACCGGAGA TGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCGGCCGCGGCACATAG AACTGGAGACGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCAGACAT GGCACATAGAACCGGAGATGCACTGCCCGGGCCATTGGCACTGTAGGAAA GGCGGCCGCGGCACATAGAACCAGAGATGCACTGCCCGGGCCATTGTCTC TGTAGGAAAGGCAGACATGGCACATAGAACCGGAGACGCACTGCCTGGGC CATTGTCTCTGTAGGAAAGGCAGACATGGCACATAGAACCAGAGATGCAC TGCCCGGGCCATTGTCTCTGTAGGAAAGGCGGCCGCGGCACATAGAACTG GAGACGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCAGACATGGCAC ATAGAACCGGAGATGCACTGCCT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG00558.hp1 others(70): Show HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00639.hp2 HG01069.hp1 HG01070.hp2 HG01081.hp2 HG01167.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01361.hp1 HG01516.hp2 HG01891.hp2 HG01975.hp1 HG01981.hp2 HG02015.hp1 HG02040.hp2 HG02258.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp2 HG02886.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03139.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp2 NA18946.hp2 NA18959.hp1 NA18962.hp1 NA18969.hp1 NA18983.hp2 NA19002.hp1 NA19007.hp2 NA19009.hp2 NA19012.hp2 NA19030.hp1 NA19056.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0003c0006 a0007c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0003t0014 a0001c0004t0002 a0003c0006t0002 a0007c0009t0002	a0001c0001t0001g0164 a0001c0001t0001g0288 a0001c0001t0002g0010 others(70): Show a0001c0001t0001g0164 a0001c0001t0001g0288 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0058 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0088 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0223 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0235 a0001c0001t0002g0237 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0002g0262 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0278 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0287 a0001c0001t0005g0260 a0001c0001t0005g0261 a0001c0001t0005g0273 a0001c0001t0005g0279 a0001c0001t0005g0280 a0001c0001t0005g0286 a0001c0001t0005g0292 a0001c0001t0007g0234 a0001c0001t0007g0238 a0001c0001t0007g0243 a0001c0001t0007g0244 a0001c0001t0007g0258 a0001c0003t0014g0290 a0001c0003t0014g0291 a0001c0004t0002g0086 a0001c0004t0002g0087 a0003c0006t0002g0272 a0007c0009t0002g0277	73	292	0.2500	472	c.165 others(487): Show c.165+625_165+626insAGACATGGCACATAGAACCGGAGATGCACT GCCCGGGCCATTGTCTCTGTAGGAAAGGCGGCCGCGGCACATAGAACTGG AGACGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCAGACATGGCACA TAGAACCGGAGATGCACTGCCCGGGCCATTGGCACTGTAGGAAAGGCGGC CGCGGCACATAGAACCAGAGATGCACTGCCCGGGCCATTGTCTCTGTAGG AAAGGCAGACATGGCACATAGAACCGGAGACGCACTGCCTGGGCCATTGT CTCTGTAGGAAAGGCAGACATGGCACATAGAACCAGAGATGCACTGCCCG GGCCATTGTCTCTGTAGGAAAGGCGGCCGCGGCACATAGAACTGGAGACG CACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCAGACATGGCACATAGAA CCGGAGATGCACTGCCTGGGCCATTGTCTCTGTAGGAAAGGC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45896962	C C	CGGGCCAT others(465): Show CGGGCCATTGTCTCTGTAGGAAAGGCAGACATGGCACATAGAACCGGAGA TGCAGTGCCCGGGCCATTGTCTCTGTAGGAAAGGCGGCCGCGGCACATAG AACTGGAGACGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCAGACAT GGCACATAGAACCGGAGATGCACTGCCCGGGCCATTGGCACTGTAGGAAA GGCGGCCGCGGCACATAGAACCAGAGATGCACTGCCCGGGCCATTGTCTC TGTAGGAAAGGCAGACATGGCACATAGAACCGGAGACGCACTGCCTGGGC CATTGTCTCTGTAGGAAAGGCAGACATGGCACATAGAACCAGAGATGCAC TGCCCGGGCCATTGTCTCTGTAGGAAAGGCGGCCGCGGCACATAGAACTG GAGACGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCAGACATGGCAC ATAGAACCGGAGATGCACTGCCT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0266 a0001c0001t0018g0266	1	292	0.0034	472	c.165 others(487): Show c.165+625_165+626insAGACATGGCACATAGAACCGGAGATGCAGT GCCCGGGCCATTGTCTCTGTAGGAAAGGCGGCCGCGGCACATAGAACTGG AGACGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCAGACATGGCACA TAGAACCGGAGATGCACTGCCCGGGCCATTGGCACTGTAGGAAAGGCGGC CGCGGCACATAGAACCAGAGATGCACTGCCCGGGCCATTGTCTCTGTAGG AAAGGCAGACATGGCACATAGAACCGGAGACGCACTGCCTGGGCCATTGT CTCTGTAGGAAAGGCAGACATGGCACATAGAACCAGAGATGCACTGCCCG GGCCATTGTCTCTGTAGGAAAGGCGGCCGCGGCACATAGAACTGGAGACG CACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCAGACATGGCACATAGAA CCGGAGATGCACTGCCTGGGCCATTGTCTCTGTAGGAAAGGC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CGATAGAT others(465): Show CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGT ATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0027 a0001c0002t0001g0027	1	436	0.0023	472	c.-26 others(483): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTA TCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATA CATCTATCTATCGATAGATACATCTATCTATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATC TATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CGATAGAT others(465): Show CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	436	0.0023	472	c.-26 others(483): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCGATAGATACATC TATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTA TCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCTATC GATAGATACATCTATCTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATC TATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PERM1_chr1_970198_987093	977751	A A	ACTCCCCC others(465): Show ACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGG GAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCC CCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCG CCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCA ACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCC CACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCGCGCAACCCCG GGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCC CCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAA CCGCCTCCCACTCCCCCCACCAACCCGGGAACCGCCTCCCACTCCCCCCA CCAACCCCGGGAACCGCCTGCCC	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	408	0.0025	472	c.215 others(491): Show c.2150-1128_2150-1127insGGGCAGGCGGTTCCCGGGGTTGGTGG GGGGAGTGGGAGGCGGTTCCCGGGTTGGTGGGGGGAGTGGGAGGCGGTTC CCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGA GTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGG GGTTGCGCGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGA GGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGG TGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGG TTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGG GAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCG GGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PIGQ_chr16_564968_589109	571108	T T	TGTCTGGC others(465): Show TGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTG TCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTG TCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTG TGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTG TATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTG TGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGG TGCCCGTGTGTGTGTGGGGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCC TGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTG TGTGTCTGGCTAGCCTGGCACCC	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0163 a0002c0001t0001g0163	1	408	0.0025	472	c.-10 others(489): Show c.-10+1012_-10+1013insGTCTGGCTAGCCTGTGTGTGTGTGTCTG GCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTG GCTAGCCTGTGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGT GTGTGTATGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAG CCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCC GTGGCTAGCCTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCC TGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGGGGGGGGGGGGGC TAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTG TGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGC CCGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCC	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10			chr16	TogoVar

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