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
IFFO2_chr1_18899280_18961676	18925820	A A	ATGGATGG others(744): Show ATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATG GATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGA TGGATGGATTGGTTGGTTGGATGGATGGATGGATGGATGGATGGATGGAT GGATGGATTGGTTGGATGGATGGTTGGATGGATGGATGGATGGATGGATG GATGGATGGATGGTTGGATGGATGGATGGATGGATGGATTGGTTGGATGG ATGGATGGATGGTTGGATGGATGGATGGATGGATGGTTGGATGGATGGAT GGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATG GATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGAGGGA TGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGTTGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATG GATGGATGGATGGATGGATTGGTTGGTTGGTTGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGA TGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATG GT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0211 a0001c0001t0050g0211	1	376	0.0027	751	c.666 others(768): Show c.666-4700_666-4699insACCATCCATCCATCCATCCATCCATCCA TCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCAAC CAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAACC AACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCA ATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCAACCAATCCATCCCTCCATCCATCCATCCATCCATC CAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCA ATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCAT CCATCCATCCAACCATCCATCCATCCATCCAACCAATCCATCCATCCATC CATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCA ACCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCAACCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATC CAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACC AATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCA TCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCAT CCATCCATCCATCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925820	A A	ATGGATGG others(744): Show ATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATG GATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGA TGGATGGATTGGTTGGTTGGATGGATGGATGGATGGATGGATGGATGGAT GGATTGGTTGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATG GATGGATGGTTGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGG ATGGATGGTTGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATG GATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGAGGGA TGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGTTGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATG GATGGATGGATGGATTGGTTGGTTGGTTGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGA TGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATG GT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0199 a0001c0001t0006g0199	1	376	0.0027	751	c.666 others(768): Show c.666-4700_666-4699insACCATCCATCCATCCATCCATCCATCCA TCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCAAC CAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACC AACCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCA ATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCAACCAATCCATCCCTCCATCCATCCATCCATCCATC CAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCA ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCAT CCATCCATCCATCCAACCATCCATCCATCCATCCAACCAATCCATCCATC CATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCA TCCAACCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCAT CCATCCAACCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCA ACCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCAT CCATCCATCCATCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925853	T T	TGGATTGG others(744): Show TGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGTTGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGG ATGGATGGATTGGTTGGATGGATGGATGGATGGTTGGATGGATGGATGGA TGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATG GATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGG ATGGATGGATGGATGGATGGAGGGATGGATTGGTTGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATTGGTT GGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGTTG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGG ATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGAT GGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATTGGTTG GA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0148 a0001c0001t0045g0148	1	376	0.0027	751	c.666 others(768): Show c.666-4733_666-4732insTCCAACCAATCCATCCATCCATCCATCC ATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCAACCAT CCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATC CATCCATCCATCCATCCATCCATCCAACCAACCAACCAATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCA ACCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCAT CCCTCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCC ATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCAACCATCCATCCATCCATCCATCCAACCATCCATC CATCCATCCAACCAATCCATCCATCCATCCATCCATCCAACCATCCATCC ATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCAACCAATCCA TCCATCCATCCATCCATCCATCCATCCATCCAACCAACCAATCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATC CATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAT CCATCCATCCATCCAACCAATCC	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925857	T T	TTGGATGG others(744): Show TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATG GATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGTT GGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGG ATGGATGGATTGGTTGGATGGATGGATGGATGGTTGGATGGATGGATGGA TGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATG GTTGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGAT GGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATG GATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATTG GTTGGTTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGA TTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATG GA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	376	0.0027	751	c.666 others(768): Show c.666-4737_666-4736insTCCATCCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAT CCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCAACCAACCAACCAATCCATCCATCCATCCATCCATCC ATCCAACCAATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCA TCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCAA CCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATC CATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCAACCATCCATCCATCCATCCATCCAACCATCCATC CATCCATCCAACCAATCCATCCATCCATCCATCCATCCAACCATCCATCC ATCCATCCATCCATCCATCCATCCAACCATCCATCCAACCAATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAACCAATCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATC CATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925857	T T	TTGGATGG others(744): Show TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATTGGTTGGTTGGATGGATGGATGGATGGA TGGATGGATGGATGGATTGGTTGGATGGATGGTTGGATGGATGGATGGAT GGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATTGGTTG GATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGG ATGGATGGAGGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGA TGGATGGATGGATGGTTGGATGGATGGATGGATGGATTGGTTGGATGGAT GGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGTTGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGG ATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGAT GGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATG GA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0048 a0003c0004t0048	a0003c0004t0048g0359 a0003c0004t0048g0359	1	376	0.0027	751	c.666 others(768): Show c.666-4737_666-4736insTCCATCCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCAA CCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATC CATCCATCCATCCATCCATCCATCCATCCATCCAACCAACCAACCAATCC ATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCA TCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCATC CAACCAATCCATCCCTCCATCCATCCATCCATCCATCCAACCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATC CATCCAACCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCC ATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCAT CCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAAC CAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATC CATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCC ATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCAT CCATCCATCCATCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
KIAA0930_chr22_45187244_45245894	45228891	A A	ACCCCCCA others(744): Show ACCCCCCAACCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCAC CACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCAAACACTCACCT GAGAGATCCCTCTCCACCCCCCAACCACCACTCACCCGAAAGATCCCTCT CCACCCCCCCCACCACTCACCCGAAAGATCCCTCTCCATCCCCCAACCAC CACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCACTCACCCGAAA GATCCCTCTCCACCCCCCAACCACCAAACACTCACCTGAGAGATCCCTCT CCACCCCCGCCATCACCACTCACCCGAAAGATCCCTCTTCACCCCCCAAC CACCACTCACCCGAAAGATCCCTCTCCACCCCCGCCATCACCACTCACCC GAAAGATCCCTCTCCACCCCCCAACCACCACTCACCCGAAAGATCCCTCT CCACCCCCCAACCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACC ACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCACTCACCCGA AAGATCCCTCTCCACCCCCCAACCACCACTCACCCGAAAGATCCCTCTCC ACCCCCCAACCACCAAACACTCACCTGAGAGATCCCTCTCCACCCCCGCC ATCACCACTCACCCGAAAGATCCCTCTTCACCCCCCAACCACCACTCACC CGAAAGATCCCTCCCCATCCCCCCCCACCACTCACCCGAAAGATCCCTCT CC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0173 a0001c0001t0023g0173	1	398	0.0025	751	c.64+ others(768): Show c.64+11748_64+11749insGGAGAGGGATCTTTCGGGTGAGTGGTGG GGGGGGATGGGGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGAAGA GGGATCTTTCGGGTGAGTGGTGATGGCGGGGGTGGAGAGGGATCTCTCAG GTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGT GGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGG AGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCTTTC GGGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGG TTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGATGGCGGGGGTGGA GAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGAAGAGGGATCTTTCG GGTGAGTGGTGATGGCGGGGGTGGAGAGGGATCTCTCAGGTGAGTGTTTG GTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGT GGAGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGATGGAGAGGGATCTT TCGGGTGAGTGGTGGGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGG TTGGGGGGTGGAGAGGGATCTCTCAGGTGAGTGTTTGGTGGTTGGGGGGT GGAGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCTT TCGGGTGAGTGGTGGTTGGGGGG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
LHPP_chr10_124456823_124619141	124471488	A A	ATATATAA others(744): Show ATATATAAATTTTTTTTATATTTATATATTTTTTATATATTTATATATAT TACATATATTTTTATATTTTATATATATTTATATATTTTATATATTTATA TATTTTTTATATATTTATATATTTATATATATATTTATATATATTTATGT ATATTTATATATATATTTATATATATTTATGTATATTTATATATATATTT ATATATATTTATGTATATTTATATATATTTATATATTTATGTATATATTT ATATATATTTATATATTTATGTATAAATTTATATATATTTATATGTATTT ATATATATATTTATATGTATTTTTATATATTTATATATTTATATGTATTT ATACATATATATTTATATGTATTTATACATATATATTTATATGTATTTAT ATATATTTATATATATTTTTTATGTATTTATATATATTTATATATATATT TATATATATTTATATATATATTTATATATATTTATATATATATTTATATA TATATTTATATATATTTATATATATATTTATATATATATTTATATATATA TTTATATATATATTTATATATATATTTATATATATATTTATATATATATT ATTTATATATATATTTATATATATTTATATATATTTATATATATTTATAT ATATATTTATATATATTTATATATATTCATATATATTTATATATATTATA TATATTTATATATATTTATATATATATTTATATATGTATTTATATATATA TT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG03490.hp1 HG03492.hp2 HG00140.hp1 HG03490.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0004g0029 a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0004g0029	3	260	0.0115	751	c.125 others(768): Show c.125+9502_125+9503insATATAAATTTTTTTTATATTTATATATT TTTTATATATTTATATATATTACATATATTTTTATATTTTATATATATTT ATATATTTTATATATTTATATATTTTTTATATATTTATATATTTATATAT ATATTTATATATATTTATGTATATTTATATATATATTTATATATATTTAT GTATATTTATATATATATTTATATATATTTATGTATATTTATATATATTT ATATATTTATGTATATATTTATATATATTTATATATTTATGTATAAATTT ATATATATTTATATGTATTTATATATATATTTATATGTATTTTTATATAT TTATATATTTATATGTATTTATACATATATATTTATATGTATTTATACAT ATATATTTATATGTATTTATATATATTTATATATATTTTTTATGTATTTA TATATATTTATATATATATTTATATATATTTATATATATATTTATATATA TTTATATATATATTTATATATATATTTATATATATTTATATATATATTTA TATATATATTTATATATATATTTATATATATATTTATATATATATTTATA TATATATTTATATATATATTATTTATATATATATTTATATATATTTATAT ATATTTATATATATTTATATATATATTTATATATATTTATATATATTCAT ATATATTTATATATATTATATATATTTATATATATTTATATATATATTTA TATATGTATTTATATATATATTT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124471488	A A	ATATATAA others(744): Show ATATATAAATTTTTTTTATATTTATATATTTTTTATATATTTATATATAT TACATATATTTTTATATTTTATATATATTTATATATTTTATATATTTATA TATTTTTTATATATTTATATATTTATATATATATTTATATATATTTATGT ATATTTATATATATATTTATATATATTTATGTATATTTATATATATATTT ATATATATTTATGTATATTTATATATATTTATATATTTATGTATATATTT ATATATATTTATATATTTATGTATAAATTTATATATATTTATATGTATTT ATATATATATTTATATGTATTTTTATATATTTATATATTTATATGTATTT ATACATATATATTTATATGTATTTATACATATATATTTATATGTATTTAT ATATATTTATATATATTTTTTATGTATTTATATATATTTATATATATATT TATATATATTTATATATATATTTATATATATTTATATATATATTTATATA TATATTTATATATATTTATATATATATTTATATATATATTTATATATATA TTTATATATATATTTATATATATATTTATATATATATTTATATATATATT ATTTATATATATATTTATATATATTTATATATATTTATATATATTTATAT ATATATTTATATATATTTATATATATTTATATATATTTATATATATTATA TATATTTATATATATTTATATATATATTTATATATGTATTTATATATATA TT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0053 a0001c0001t0001g0054	2	260	0.0077	751	c.125 others(768): Show c.125+9502_125+9503insATATAAATTTTTTTTATATTTATATATT TTTTATATATTTATATATATTACATATATTTTTATATTTTATATATATTT ATATATTTTATATATTTATATATTTTTTATATATTTATATATTTATATAT ATATTTATATATATTTATGTATATTTATATATATATTTATATATATTTAT GTATATTTATATATATATTTATATATATTTATGTATATTTATATATATTT ATATATTTATGTATATATTTATATATATTTATATATTTATGTATAAATTT ATATATATTTATATGTATTTATATATATATTTATATGTATTTTTATATAT TTATATATTTATATGTATTTATACATATATATTTATATGTATTTATACAT ATATATTTATATGTATTTATATATATTTATATATATTTTTTATGTATTTA TATATATTTATATATATATTTATATATATTTATATATATATTTATATATA TTTATATATATATTTATATATATATTTATATATATTTATATATATATTTA TATATATATTTATATATATATTTATATATATATTTATATATATATTTATA TATATATTTATATATATATTATTTATATATATATTTATATATATTTATAT ATATTTATATATATTTATATATATATTTATATATATTTATATATATTTAT ATATATTTATATATATTATATATATTTATATATATTTATATATATATTTA TATATGTATTTATATATATATTT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
MEGF6_chr1_3482951_3616508	3502017	G G	GCCTCACA others(744): Show GCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACACCTCCTCACATGGG CTCCTGGCGAGTGTGCCCCCCGGCACCTCCTCACATGGGCTCCTGGCGAG TGTGCCCCCCACACCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCG CACCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGTGCCTCACATGG GCTCCTGGCGAGTGTGCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAG TGTGCCCCCCGCACCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGC GCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCTGTGCCTCACATGGG CTCCTGGCGAGTGTGCCCCCCACACCTCCTCACATGGGCTCCTGGCGAGT GTGCCCCCCGTGCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGTGCCT CACATGGGCTCCTGGCGAGTGTGCCCCCCGCCTCCTCACATGGGCTCCTG GCGAGTGTGCCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGC CCCCTGTGCCTCACATAGGCTCCTGGCGAGTGTGCCCCCCCCGCGCCTCC TCACATGGGCTCCTGGCGAGTGTGCCCCCCGCCTCCTCACATGGGCTCCT GGCGAGTGTGCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGC CCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACGC CT	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0002 a0002	a0002c0033 a0002c0033	a0002c0033t0001 a0002c0033t0001	a0002c0033t0001g0026 a0002c0033t0001g0026	1	292	0.0034	751	c.218 others(766): Show c.2189-97_2189-96insAGGCGTGGGGGGCACACTCGCCAGGAGCCC ATGTGAGGAGGCGCGGGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGA GGCGCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGGGGGGCA CACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGGCACACTCGCCAG GAGCCTATGTGAGGCACAGGGGGCACACTCGCCAGGAGCCCATGTGAGGA GGCGCGGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGGGGGGC ACACTCGCCAGGAGCCCATGTGAGGCACGGGGGGCACACTCGCCAGGAGC CCATGTGAGGCACGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGTG TGGGGGGCACACTCGCCAGGAGCCCATGTGAGGCACAGGGGGCACACTCG CCAGGAGCCCATGTGAGGAGGCGCGGGGGGCACACTCGCCAGGAGCCCAT GTGAGGAGGTGCGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGC GGGGGGCACACTCGCCAGGAGCCCATGTGAGGCACGGGGGGCACACTCGC CAGGAGCCCATGTGAGGAGGTGCGGGGGGGCACACTCGCCAGGAGCCCAT GTGAGGAGGTGTGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGTGC CGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGTGTGGGGGGCACAC TCGCCAGGAGCCCATGTGAGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	17/36			chr1	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(744): Show GCCCTCCCCTCCCCTCCCCGTCCCCTCCCTTCCCCTCCCCTCCTCCCTCC CCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTTCCCTC CACCCTCCCCTCCCCTCCCTTCCTCCCCCCTCCCCTCCCCCTCCCCTCCC CCTTCCCCTCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCTCCCCC TTCCCCTCCCCTCCCCTCCCCTCCCCCCTTCCCCTCCCCTCCCCTCCACC CTCCCTTCCCCTCCCCTCCCCTCCTCCCTCCCTCCCCTCCCCTCTTCCCC TCCCCTCCCCTCCACCCTCCCTTCCCCTCCCCTTCCCTCCCTTCCCCTCC CCTCCCCTTCCCTCCACCCTCCCCTTCCCCCTCCCCTCCCCCTCCCTTCC CCTCCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCATCCCCCT TCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCTCTTCGCCTCCCC TCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTCCCCTCCCTTCC CCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCTCCCCCCC TCCTCCCCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCTCTCCTCTC CCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCTCCCTTC CCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCCCTCCCC AC	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0009 a0009	a0009c0066 a0009c0066	a0009c0066t0001 a0009c0066t0001	a0009c0066t0001g0041 a0009c0066t0001g0041	1	278	0.0036	751	c.115 others(768): Show c.1157+156_1157+157insGTCCCCTCCCTTCCCCTCCCCTCCTCCC TCCCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTTCC CTCCACCCTCCCCTCCCCTCCCTTCCTCCCCCCTCCCCTCCCCCTCCCCT CCCCCTTCCCCTCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCTCC CCCTTCCCCTCCCCTCCCCTCCCCTCCCCCCTTCCCCTCCCCTCCCCTCC ACCCTCCCTTCCCCTCCCCTCCCCTCCTCCCTCCCTCCCCTCCCCTCTTC CCCTCCCCTCCCCTCCACCCTCCCTTCCCCTCCCCTTCCCTCCCTTCCCC TCCCCTCCCCTTCCCTCCACCCTCCCCTTCCCCCTCCCCTCCCCCTCCCT TCCCCTCCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCATCCC CCTTCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCTCTTCGCCTC CCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTCCCCTCCCT TCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCTCCCC CCCTCCTCCCCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCTCTCCT CTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCTCCC TTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCCCTC CCCACCCCTCCCCTCCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(744): Show GCCCTCCCCTCCCCTCCCCGTCCCCTCCCTTCCCCTCCCCTCCTCCCTCC CCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCTCCCCTTCCCTCC ACCCTCCCCTCCCCTCCCTTCCCTCCCCCCTCCCCTCCCCCTCCCCTCCC CCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCTCCCC CTTCCCCTCCCCTCCCCTCCCCTCCCCCCTTCCCCTCCCCTCCCTCCACC CTCCCTTCCCCTCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCTCTTCCC CTCCCCTCCCCTCCACCCTCCCTTCCCCTCCCCTTCCCTCCCTTCCCCTC CCCTCCCCTTCCCTCCACCCTCCCCTTCCCCCTCCCCTCCCCCTCCCTTC CCCTCCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCATCCCCC TTCCCCTTCCTACCCCTCCCCTCCCCCTCCCCTCCCCTCTTCGCCTCCCC TCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTCCCCTCCCTTCC CCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCTCCCCCCC TCCTCCCCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCTCTCCTCTC CCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCTCCCTTC CCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCCCTCCCC AC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0025 a0001c0003t0025	a0001c0003t0025g0250 a0001c0003t0025g0250	1	278	0.0036	751	c.115 others(768): Show c.1157+156_1157+157insGTCCCCTCCCTTCCCCTCCCCTCCTCCC TCCCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCTCCCCTTCCC TCCACCCTCCCCTCCCCTCCCTTCCCTCCCCCCTCCCCTCCCCCTCCCCT CCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCTC CCCCTTCCCCTCCCCTCCCCTCCCCTCCCCCCTTCCCCTCCCCTCCCTCC ACCCTCCCTTCCCCTCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCTCTT CCCCTCCCCTCCCCTCCACCCTCCCTTCCCCTCCCCTTCCCTCCCTTCCC CTCCCCTCCCCTTCCCTCCACCCTCCCCTTCCCCCTCCCCTCCCCCTCCC TTCCCCTCCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCATCC CCCTTCCCCTTCCTACCCCTCCCCTCCCCCTCCCCTCCCCTCTTCGCCTC CCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTCCCCTCCCT TCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCTCCCC CCCTCCTCCCCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCTCTCCT CTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCTCCC TTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCCCTC CCCACCCCTCCCCTCCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(744): Show GCCCTCCCCTCCCTCCCCTCCCCGTCCCTCCCCTCCCCTCCTCCCTCCCC CCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTTCCCTCCA CCCTCCCCTCCCCTCCCTTCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCC CTTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCCCCCTTCCCCTCCCCTCCCCTCCACCCT CCCTTCCCCTCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCTCTTCCCCT CCCCTCCCCTCCACCCTCCCTTCCCCTCCCCTTCCCTCCCTTCCCCTCCC CTCCCCTTCCCTCCACCCTCCCCTTCCCCCCTCCCCTCCCCCTCCCTTCC CCTCCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCATCCCCCT TCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCTCTTCGCCTCCCC TCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTCCCCTCCCTTCC CCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCTCCCCCCC TCCTCCCCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCTCTCCTCTC CCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCTCCCTTC CCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCCCTCCCC AC	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0001 a0002c0017t0001	a0002c0017t0001g0268 a0002c0017t0001g0268	1	278	0.0036	751	c.115 others(768): Show c.1157+150_1157+151insTCCCCTCCCCGTCCCTCCCCTCCCCTCC TCCCTCCCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCC TTCCCTCCACCCTCCCCTCCCCTCCCTTCCCTCCCCCCTCCCCTCCCCCT CCCCTCCCCCTTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCCTTCCCCTCCCCTCCC CTCCACCCTCCCTTCCCCTCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCC TCTTCCCCTCCCCTCCCCTCCACCCTCCCTTCCCCTCCCCTTCCCTCCCT TCCCCTCCCCTCCCCTTCCCTCCACCCTCCCCTTCCCCCCTCCCCTCCCC CTCCCTTCCCCTCCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTC CATCCCCCTTCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCTCTT CGCCTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTCCC CTCCCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCC CTCCCCCCCTCCTCCCCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCC TCTCCTCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCC CCTCCCTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCT CCCCTCCCCACCCCTCCCCTCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(744): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCTCT CTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCC CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCTC CCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTC CTCCTCTCCCCTCCCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCT CCTCCTCCCCTCCCCTCCCATCCCCTCCTCCCCTCCCCTCCCCCCTCCTC CC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0068 a0001c0002t0001g0068	1	140	0.0071	751	c.114 others(770): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTC CTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGT CTCCCCTCCCGTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCC CTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTC CCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCC CCTCTCCCCTCCCCTCCCCTCCTCCTCTCCCCTCCCCTCCTCCCCTCCCC TCTCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCCCATCCCCTCCT CCCCTCCCCTCCCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(744): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCTCT CTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCC CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCTC CCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTC CTCCTCTCCCCTCCCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCT CCTCCTCCCCTCCCCTCCCATCCCCTCCTCCCCTCCCCTCCCCCCTCCTC CC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0096 a0001c0002t0001g0096	1	140	0.0071	751	c.114 others(770): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTC CTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGT CTCCCCTCCCGTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCC CTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTC CCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCC CCTCTCCCCTCCCCTCCCCTCCTCCTCTCCCCTCCCCTCCTCCCCTCCCC TCTCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCCCATCCCCTCCT CCCCTCCCCTCCCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MSR1_chr8_16102881_16197651	16189622	A A	ATATTTGA others(744): Show ATATTTGATATATATTTTTTATATATTTTATATATATATAAAATCTTATT TTATATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATA TATATTTTATATATATATAAAATCTTACTTTATATTTTATATATATGAAA TCTTACTTTATATATATTTTATATATATATAAAATCTTACTTTATATATA TTTTATATATATAAAATCTTATTTTATATATATAAAATCTTATTTTATAT ATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATATA TAAAATAAGATTTTATATATATTTTATATATATATAAAATAAGATTTTAT ATATATTTTATATATATATAAAATAAGATTTTATATATATTTTATATATA TATAAAATAAGATTTTATATATATTTTATATATATATAAAATAAGATTTT ATATATATTTTATATATATATAAAATAAGATTTTATATATATTTTATATA TATATAAAATAAGATTTTATATATATTTTATATATATATAAAATAAGATT TTATATATATATAAAATAAGATTTTATATATATATATAAAATAAGATTTT ATATATATATAAAATAAGATTTTATATATATATAAAATAAGATTTTATAT ATATATAAAATAAGATTTTATATATATATAAAATAAGATTTTATATATAT AAAATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAAT CT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	330	0.0030	751	c.-5+ others(766): Show c.-5+2975_-5+2976insAGATTTTATATATATATAAAATATATATAA AATAAGATTTTATATATATTTTATATATATAAAATCTTATTTTATATATA TATAAAATCTTATTTTATATATATATAAAATCTTATTTTATATATATATA AAATCTTATTTTATATATATATAAAATCTTATTTTATATATATATATAAA ATCTTATTTTATATATATATAAAATCTTATTTTATATATATATAAAATAT ATATAAAATCTTATTTTATATATATATAAAATATATATAAAATCTTATTT TATATATATATAAAATATATATAAAATCTTATTTTATATATATATAAAAT ATATATAAAATCTTATTTTATATATATATAAAATATATATAAAATCTTAT TTTATATATATATAAAATATATATAAAATCTTATTTTATATATATATAAA ATATATATAAAATCTTATTTTATATATATATAAAATATATATAAAATAAG ATTTTATATATATATAAAATATATATAAAATAAGATTTTATATATATAAA ATAAGATTTTATATATATAAAATATATATAAAGTAAGATTTTATATATAT ATAAAATATATATAAAGTAAGATTTCATATATATAAAATATAAAGTAAGA TTTTATATATATATAAAATATATATAAAATATATATAAAATAAGATTTTA TATATATATAAAATATATATAAAATAAGATTTTATATATATATAAAATAT ATAAAAAATATATATCAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
NCAPG2_chr7_158626169_158709804	158668243	T T	TCCTTACC others(744): Show TCCTTACCTACCTTGTGTCCCTAGGCCCTCCCTTACCCACTACTGGGTCC CTCCGCCCTCCCTTACCCACAACTGGGTCCCTCCGCCCTCCCTTACCCAC TACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCGCC TTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTC CGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTG GGTCCCTCCGCCCTCCCTTACCCACAACTGGGTCCCTCCGCCCTCCTTAC CCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCC CTCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACAACTGGGT CCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCAC TACTGGGTCCCTCCGCCCTCCTTACCTACCCTCTGGCCCTCCACCCTCTT ACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCC GCCCTCCTTACCTACCCTCTGGCCCTCCACCCTCTTACCCACTACTGGGT CCCTCCGCCCTCCTTACCTACCCTCTGGCCCTCCACCCTCTTACCCACTA CTGGGTCCCTCCGCCCTCCTTACCTACCCTCTGGCCCTCCACCCTCTTAC CCACTACTGGGTCCCTCCGCCTTCCTTACCGACCCTGGGTCCCTCCGCCC CC	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	378	0.0027	751	c.147 others(770): Show c.1479+3270_1479+3271insGGGGGCGGAGGGACCCAGGGTCGGTA AGGAAGGCGGAGGGACCCAGTAGTGGGTAAGAGGGTGGAGGGCCAGAGGG TAGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGAGGGTGGAGGGCC AGAGGGTAGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGAGGGTGG AGGGCCAGAGGGTAGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGG GAGGGCGGAGGGACCCAGTAGTGGGTAAGAGGGTGGAGGGCCAGAGGGTA GGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACC CAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTTGTGGGTAAGGGAGGGC GGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTA AGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGT TGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAG GGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGC GGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTG GGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGAC CCAGTTGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGG GCCTAGGGACACAAGGTAGGTAAGG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAC others(744): Show CTGTATACATGTACAGCATGTATACTGTATACATGTACAGCATGTATACT GTATACATGTACAGCATGTATACTGTATACATGTACAGCATGTATACTGT ATACATGTACAGCATGTATACTGTATATATGTACAGCATGTATACTGTGT ACAGCATGTATACTGTGTACAGCATGTATACTGTGTACAGCATGTATACT GTATACAGCATGTATACTGTATACAGCATGTATACTGTATGTATGTATAC TGTATGTATGTATACTGTATGTATGTATACCGTATATATACACAGTATGT ATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGTAT ACCGTATATATACACAGTATGTATACTGTGTATATATACACAGTATGTAT ACTGCATGCAGTATGTATACTGTATACATACTGCATGCAGTATGTATACT GTATACATACTGCATGCAGTATGTATACTGTATACATACTGCATGCAGTA TGTATACTGTATATATACACTATACAGTATGTATACTGTATATATACACT ATACAGTATGTATACTGTATATATACACAATACAGTATGTATACTGTATA TATACACAATACAGTATGTATACTGTATATATACACACAGTATGTATACT GTATATATACACAATACAGTATGTATACTGTATATATACACAATACAGTA TGTATACTGTATATATACACACAGTATGTATACTGTATATATACACACAG TA	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0107 a0001c0001t0008g0107	1	362	0.0028	751	c.-75 others(770): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTATTGTGTATATATACAGT ATACATACTGTATTGTGTATATATACAGTATACATACTGTGTGTATATAT ACAGTATACATACTGTATTGTGTATATATACAGTATACATACTGTATTGT GTATATATACAGTATACATACTGTATAGTGTATATATACAGTATACATAC TGTATAGTGTATATATACAGTATACATACTGCATGCAGTATGTATACAGT ATACATACTGCATGCAGTATGTATACAGTATACATACTGCATGCAGTATG TATACAGTATACATACTGCATGCAGTATACATACTGTGTATATATACACA GTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGT ATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTAT ACATACATACAGTATACATACATACAGTATACATACATACAGTATACATG CTGTATACAGTATACATGCTGTATACAGTATACATGCTGTACACAGTATA CATGCTGTACACAGTATACATGCTGTACACAGTATACATGCTGTACATAT ATACAGTATACATGCTGTACATGTATACAGTATACATGCTGTACATGTAT ACAGTATACATGCTGTACATGTATACAGTATACATGCTGTACATGTATAC AGTATACATGCTGTACATGTATACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NOP14_chr4_2932936_2968406	2961219	T T	TAGTAACT others(744): Show TAGTAACTATATTAATATAGTTAGTATATATTAATATATAGTAACTATAT TAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTA GTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATA TATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTA TATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATA TAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATA TTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAG TAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTA ATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTT AGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAAT ATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACT ATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAAT ATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTAT ATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATA GTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATT AA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0266 a0002c0002t0001g0266	1	422	0.0024	751	c.195 others(768): Show c.195+1905_195+1906insTTAATATAGTTACTATATATTAATATAC TAACTATATTATTAATATAGTTACTATATATTAATATACTAACTATATTA TTAATATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTT ACTATATATTAATATACTAACTATATTATTAATATAGTTACTATATATTA ATATACTAACTATATTATTAATATAGTTACTATATATTAATATACTAACT ATATTATTAATATAGTTACTATATATTAATATACTAACTATATTATTAAT ATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTTACTAT ATATTAATATACTAACTATATTATTAATATAGTTACTATATATTAATATA CTAACTATATTATTAATATAGTTACTATATATTAATATACTAACTATATT ATTAATATAGTTACTATATATTAATATACTAACTATATTATTAATATAGT TACTATATATTAATATACTAACTATATTATTAATATAGTTACTATATATT AATATACTAACTATATTATTAATATAGTTACTATATATTAATATACTAAC TATATTATTAATATAGTTACTATATATTAATATACTAACTATATTATTAA TATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTTACTA TATATTAATATACTAACTATATTAATATAGTTACTATATATTAATATATA CTAACTATATTAATATAGTTACT	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17			chr4	TogoVar
NXN_chr17_794310_984776	949445	C C	CCCCCCGG others(744): Show CCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCC TCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCT GCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCT CCCCCCTGCCTCCTCCTCTCCCCGCTGCCTCCTCCTCTCCCCCTGCCTCC TCCTCTCCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCC CGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCT CTCCCCCTGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCGGCCT CCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCC CCTGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCC TCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGC CTCCTCTCTCCCCCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCC CCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCGCGCCTCCTCCTC TCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCTGCCTC CTCCTCTCCCCCGCGGCCTCCTACTCTCCCCCCTGCCTCCTCCTCTCCCC CTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCT CT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0127 a0001c0001t0003g0127	1	242	0.0041	751	c.360 others(770): Show c.360+29873_360+29874insAGAGGAGGAGGCAGGGGGGAGAGGAG GAGGCCGCGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGA GAGTAGGAGGCCGCGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCC GCGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCGCGGGGAGAGGAG GAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGGGGGGA GAGGAGGAGGCCGGGGGAGAGAGGAGGCAGGGGGGAGAGGAGGAGGCAGG GGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGG AGGCCGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGA GAGGAGGAGGCCGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCC GGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAG GAGGCCGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCAGGGGGG AGAGGAGGAGGCAGGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGC AGCGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGG AGGAGGCCGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGG GAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGC AGGGGGGAGAGGAGGAGGCCGGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PERM1_chr1_970198_987093	976715	C C	CCAACCCC others(744): Show CCAACCCCAGGAACCGCCTCCCACTCCCCCCACAACCCCGGGAACCGCCT CCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCC CGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACT CCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAA CCGCCTCCCACTCCCCCCGACCAACCCCGGGAACCGCCTCCCACTCCCCC CGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCC TCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAAC CCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCAC TCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGG AACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCC CCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCGGGAACCG CCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTGCCCCCGCCACCAAC CCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCAC TCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGA ACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCC CG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	408	0.0025	751	c.215 others(766): Show c.2150-92_2150-91insCGGGGGGAGTGGGAGGCGGTTCCCGGGGTT GGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGC GGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGG GGAGTGGGAGGCGGTTCCCGGGGTTGGTGGCGGGGGCAGGCGGTTCCCGG GGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGTTGGTGGGGGGAGTGGG AGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTG GTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGC GGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGG GGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCC GGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTG GGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTT GGTCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGG CGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGG GGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTC CCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGTGGGGGGAGT GGGAGGCGGTTCCTGGGGTTG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PGAP6_chr16_365788_386978	370341	A A	ACCCCGCG others(744): Show ACCCCGCGCCCCCGGCTCTCACCCGCTACCCCCGGCCCCCGGCTCTCACC CGCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCA CCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCT CACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCT CTCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGG CTCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCCC GGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCC CGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGC CCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCG GCCCCCGGCTCTCACCTCCTACCCCGGCCTCGGCTCTCACCCCCTACCCC GGCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACCC CGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTAC CCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTA CCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCT AC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	376	0.0027	751	c.16 others(762): Show c.1645_*1646insGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGT GAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGG TGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGG GGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAG GGGGTGAGAGCCGGGGCCGGGGTAGGGGGTGAGAGCCGAGGCCGGGGTAG GAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGT AGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGG TAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGG GGTAGGGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCG GGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGGGC AGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGG GCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGG GGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCC GGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAG CCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGGTAGCGGGTGA GAGCCGGGGGCGCGGGG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		446		chr16	TogoVar
PLEKHN1_chr1_961482_980865	976715	C C	CCAACCCC others(744): Show CCAACCCCAGGAACCGCCTCCCACTCCCCCCACAACCCCGGGAACCGCCT CCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCC CGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACT CCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAA CCGCCTCCCACTCCCCCCGACCAACCCCGGGAACCGCCTCCCACTCCCCC CGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCC TCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAAC CCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCAC TCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGG AACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCC CCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCGGGAACCG CCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTGCCCCCGCCACCAAC CCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCAC TCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGA ACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCC CG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0010 a0003c0003t0001g0010	1	422	0.0024	751	c.21 others(762): Show c.2140_*2141insCAACCCCAGGAACCGCCTCCCACTCCCCCCACAA CCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCA CTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGG GAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCC CCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGACCAACCCCGGGAACC GCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCA ACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCC CACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCG GGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCC CCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAAC CGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCA CCAACCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCT GCCCCCGCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCG GGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCC CCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACC GCCTCCCACTCCCCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		851		chr1	TogoVar
RAB3C_chr5_58578075_58864394	58597333	T T	TATGTAAT others(744): Show TATGTAATACACAATATATATTATATAATATGTAATACACAATATATATT ATATAATATGTAATACACAATATATATTATATAATATGTAATACACAATA TATATTATATAATATGTAATACACAATATATATTATATAATATGTAATAC ACAATATATATTATATAATATGTAATACACAATATATATTATATAATATG TAATACACAATATATATTATATAATATGTAATACACAATATATATTATAT AATATGTAATACACAATATATATTATATAATAATATGTAATACACAATAT ATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATA CACAATATATTATATAATATGTAATACACAATATATTATATAATATGTAA TACACAATATATTATATAATAATATGTAATACACAATATATTATATAATA ATATGTAATACACAATATATTATATAATAATATGTAATACACAATATATT ATATAATAATATGTAATACACAATATATTATATAATAATATGTAATACAC AATATATTATATAATAATATGTAATACATTATACATTATTATATAAGTAT ATGTAATACATTATACATTATTATATAAGTATATGTAATATATATTATAC ATTATTATATAAGTATATGTAATATATATTATACATTATTATATAAGCAT ATAATATATAATACATAATACATTATATATAAGCATATAACAATACATAA TA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0158 a0001c0001t0026g0158	1	220	0.0046	751	c.24+ others(768): Show c.24+14101_24+14102insATGTAATACACAATATATATTATATAAT ATGTAATACACAATATATATTATATAATATGTAATACACAATATATATTA TATAATATGTAATACACAATATATATTATATAATATGTAATACACAATAT ATATTATATAATATGTAATACACAATATATATTATATAATATGTAATACA CAATATATATTATATAATATGTAATACACAATATATATTATATAATATGT AATACACAATATATATTATATAATATGTAATACACAATATATATTATATA ATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATAT ATTATATAATAATATGTAATACACAATATATTATATAATATGTAATACAC AATATATTATATAATATGTAATACACAATATATTATATAATAATATGTAA TACACAATATATTATATAATAATATGTAATACACAATATATTATATAATA ATATGTAATACACAATATATTATATAATAATATGTAATACACAATATATT ATATAATAATATGTAATACACAATATATTATATAATAATATGTAATACAT TATACATTATTATATAAGTATATGTAATACATTATACATTATTATATAAG TATATGTAATATATATTATACATTATTATATAAGTATATGTAATATATAT TATACATTATTATATAAGCATATAATATATAATACATAATACATTATATA TAAGCATATAACAATACATAATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar
RASA3_chr13_113972783_114137623	114010763	G G	GGAGGGGA others(744): Show GGAGGGGAAGGCGTGGGGAGGAGGGGAAGGCATGGGGAGGAGGGGGCCAC ATGGGGAGGAGCGGGCCGCGAGGGGAGGAGGGGGCCGCGTGGGGAGGAGG GGGCTGTGAGGAGAGGAGGGGGCCCCGTGGGGAGGAGGGGAAGGCTTGGG GAGGAGGGGGCCGCGAGGGGAGGAGGGAGCCGCGTGGGGAGGAGGGGGGC CACATGGGGAGGAGGCGCCGCGTGGGGAGGAGGGGGCCGTGAGGAGAGGA GGGGGCCCCGTGGGGAGGAGGGGAAGGCGTGGGGAGGAGGGGGGCGCGTG GGGAGGAGGGGGCCGCGTGGGGAGGAGGCGCCGTGTGGGGAGGAGGGGGG CCGCGAGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGCCGCGTGGGGAG GAGGGGGCCGCGAGGGGAGGAGGGGGCCGTGTGGGGAGGAGAGGGCCGCG TGGGGAGGAGGGGGCCGCGTGGGGAGGAGGCGCCGTGTGGGGAGGAGGGG GCCGCGTGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGCCGCGTGGGGA GGAGGGGGCCGCGAGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGCCGC GTGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGCCGCGAGGGGAGGAGG GGGCCGCGTGGGGAGGAGGGGGCCGCGTGGGGAGGAGGTGGCCGCGAGGG GAGGAGGGGGCCGTGTGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGCC GC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0012 a0001c0001t0006g0012	1	67	0.0149	751	c.159 others(768): Show c.1590+407_1590+408insGCGGCCCCCTCCTCCCCACGCGGCCCCC TCCTCCCCACACGGCCCCCTCCTCCCCTCGCGGCCACCTCCTCCCCACGC GGCCCCCTCCTCCCCACGCGGCCCCCTCCTCCCCTCGCGGCCCCCTCCTC CCCACGCGGCCCCCTCCTCCCCACGCGGCCCCCTCCTCCCCACGCGGCCC CCTCCTCCCCTCGCGGCCCCCTCCTCCCCACGCGGCCCCCTCCTCCCCAC GCGGCCCCCTCCTCCCCACGCGGCCCCCTCCTCCCCACACGGCGCCTCCT CCCCACGCGGCCCCCTCCTCCCCACGCGGCCCTCTCCTCCCCACACGGCC CCCTCCTCCCCTCGCGGCCCCCTCCTCCCCACGCGGCCCCCTCCTCCCCA CGCGGCCCCCTCCTCCCCTCGCGGCCCCCCTCCTCCCCACACGGCGCCTC CTCCCCACGCGGCCCCCTCCTCCCCACGCGCCCCCCTCCTCCCCACGCCT TCCCCTCCTCCCCACGGGGCCCCCTCCTCTCCTCACGGCCCCCTCCTCCC CACGCGGCGCCTCCTCCCCATGTGGCCCCCCTCCTCCCCACGCGGCTCCC TCCTCCCCTCGCGGCCCCCTCCTCCCCAAGCCTTCCCCTCCTCCCCACGG GGCCCCCTCCTCTCCTCACAGCCCCCTCCTCCCCACGCGGCCCCCTCCTC CCCTCGCGGCCCGCTCCTCCCCATGTGGCCCCCTCCTCCCCATGCCTTCC CCTCCTCCCCACGCCTTCCCCTC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	16/23			chr13	TogoVar
RFC1_chr4_39282456_39371362	39348422	C C	CAGAAAAG others(744): Show CAGAAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAGAA AAGAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAGAAAAGAA AAGAAAAGAAAGAAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGGAAAAGAAAAGAAAAGAAAAAGAAAAGAAAAGAAAAGA AA	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	276	0.0036	751	c.132 others(768): Show c.132+2925_132+2926insTTTCTTTTCTTTTCTTTTCTTTTTCTTT TCTTTTCTTTTCCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTTCTTTCTTTTCTTTTCTTTTCTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTCTTTTCTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTCTTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTCTTTTCT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar
RPA3_chr7_7631518_7723607	7679103	A A	ATTTATTT others(744): Show ATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATAT ATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATAT ATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACAT ATTTACATATTTAGTTTATAAATACATATTTATATATTTAGTTTATAAAT ACATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAAT TTATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATATT TATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGA TAAATATATTTATATATTTAATTTATAGATAAATATATATATATTTAGTT TATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTT ATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGAT AAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATT TAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATA TATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTA TAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTAT ATATTTAGTTTATAGATAAATTATATTTATATATTTAGTTTATAGATACA TG	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	308	0.0033	751	c.-75 others(770): Show c.-758+6726_-758+6727insCATGTATCTATAAACTAAATATATAA ATATAATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAAC TAAATATATAAATATATATTTATCTATAAACTAAATATATAAATATATAT TTATCTATAAACTAAATATATAAATATATATTTATCTATAAACTAAATAT ATAAATATATATTTATCTATAAACTAAATATATAAATATATATTTATCTA TAAACTAAATATATAAATATATATTTATCTATAAACTAAATATATAAATA TATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAACTA AATATATAAATATATATTTATCTATAAACTAAATATATATATATTTATCT ATAAATTAAATATATAAATATATTTATCTATAAATTAAATATATAAATAT ATATTTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAA ATATATAAATATATATTTATCTATAAATTAAATATATAAATATATATTTA TCTATAAATTAAATATATAAATATGTATTTATAAACTAAATATATAAATA TGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATATGTA AATATGTATTTATAAACTAAATAAATATATATTTATAAACTAAATATGTA AATATATATTTATAAACTAAATAAATATATATTTATAAACTAAATATGTA AATATATATTTATAAACTAAATAAA	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RWDD2B_chr21_28999384_29024349	29010490	G G	GTCCCAGC others(744): Show GTCCCAGCTACTTGAGAGGCTCAGGTGGGAGGGACTGCTTGAGCCCAGAA GGTGGAGGTTGTAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGT GACAGAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAACCTAAAC CATAGTTCCTTTTATCAATCTCTTCTTTTACAGGTTTCAAGCTTTATTTG TTTGTTTGTTTGTTTTTTTTGAGACGGAGTCTTGCTTTGTGCCCAGGATG GAGTGCAGTGGTGCGATCTTAGCTCACTGCAACCTCCACCTCCCGGACTC AAACAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCACCC ACCACCACCCCCAGCTAATTTTTATATTTTTATTTTATTATTTGTTTATT TATTTATTTTGGGATGCAGTTATCGCTCTTGTTGCCTAGGCTGGAGCTCA GTGTCGTGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTCCAAGCAAT TCTCCTGCCTCAGCCTCCCAAGGGGAGAGATTACAGGCACATGCCACCAT GCCTGGCCAATTTTTTTGTGTTTTTGTATCACCTCAGGTGATCTGCCTGC CTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGC CTAAAATATCTTGATTAGAAAGGATTTCTCTACTGCAGGATTATTTTAAA ATTCTTCTATTTTTTACAAAAATTAGCTGGGTGAGGTGGTGGGCACCTGT AA	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0017 a0006c0005t0017	a0006c0005t0017g0214 a0006c0005t0017g0214	1	438	0.0023	751	c.68- others(766): Show c.68-1870_68-1869insTTACAGGTGCCCACCACCTCACCCAGCTAA TTTTTGTAAAAAATAGAAGAATTTTAAAATAATCCTGCAGTAGAGAAATC CTTTCTAATCAAGATATTTTAGGCTGGGCACAGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGGTGATACAAA AACACAAAAAAATTGGCCAGGCATGGTGGCATGTGCCTGTAATCTCTCCC CTTGGGAGGCTGAGGCAGGAGAATTGCTTGGACCCGGGAGGCAGAGGTTG CAGTGAGCTGAGATCACGACACTGAGCTCCAGCCTAGGCAACAAGAGCGA TAACTGCATCCCAAAATAAATAAATAAACAAATAATAAAATAAAAATATA AAAATTAGCTGGGGGTGGTGGTGGGTGCCTGTAATCTCAGCTACTTGGGA GGCTGAGGCAGGAGAATTGTTTGAGTCCGGGAGGTGGAGGTTGCAGTGAG CTAAGATCGCACCACTGCACTCCATCCTGGGCACAAAGCAAGACTCCGTC TCAAAAAAAACAAACAAACAAACAAATAAAGCTTGAAACCTGTAAAAGAA GAGATTGATAAAAGGAACTATGGTTTAGGTTGTTTGTTTGTTTGTTTGTT TGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATC TTGGCTCACTACAACCTCCACCTTCTGGGCTCAAGCAGTCCCTCCCACCT GAGCCTCTCAAGTAGCTGGGA	RWDD2B	ENSG00000156253.7	transcript	ENST00000493196.2	protein_coding	1/4			chr21	TogoVar
SCARA5_chr8_27864883_27997673	27918978	A A	AGGAGGAG others(744): Show AGGAGGAGGAGAAGGAGGAGGAGAAAGAGGAGGAGGAGGAAGAGGAGGAA GAGGAGAAAGAGGAGGAAAAGAAGGAGGAGGAGGAAGAGAAAAGGAGGAG GAGGGGAAGGAGGAGGAAAAGGAGGAGGAGGGGAAGGAGGAGGAGAAGAA AGGGGAGAAAGAGGAGGAAAAGGAGGAGGAGAAGGAGGAGGAAGAGAAAA GGAGGAGGAGAGGGGAAGGAGGAGGAAAAGGAGAAGGAGGAACAGGAGGA GGAGAAGGAGGAGGAGGGGAAGGAGAAGAAGGAGGAGGAGGGGAAGGAGA AGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGA AGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGGAGAAGGCAGAGGAGGA GGAGGAGAAGAAAGAAGAGGAGGAGAAGGAAGAAGAGGAGGAGAAGGAAG AAAGGGCAGAAGAGAAGGAGGAAGAGGAGAAAGAGGAGGAGGAGGGGAAA GAAGAGGATAAGGAAGAAAGGGAAGAGGAGAGGGAAGAAGAGGAGGAGGA GGGGAAGAAAGAGGAGGAGGAGGAGAAAAAGAGGAGGAGGAGGGGAAGGA AAAGAAGGAGGAGGAAAAGCAGGAGGAGAAGGAGGAGGAAGAGAAAAGGA GGAGGAGGGGAAGGAGGAGAAGGAGGAGGAATGGGAGGAGGAGGAGAGAA TAGAGGAGGAGGGAATAGAGGAGGAGGAGAGAAGGGAGGAGGAGAAGAGA AG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0183 a0001c0003t0012g0183	1	314	0.0032	751	c.916 others(768): Show c.916+2592_916+2593insCTTCTCTTCTCCTCCTCCCTTCTCTCCT CCTCCTCTATTCCCTCCTCCTCTATTCTCTCCTCCTCCTCCCATTCCTCC TCCTTCTCCTCCTTCCCCTCCTCCTCCTTTTCTCTTCCTCCTCCTTCTCC TCCTGCTTTTCCTCCTCCTTCTTTTCCTTCCCCTCCTCCTCCTCTTTTTC TCCTCCTCCTCCTCTTTCTTCCCCTCCTCCTCCTCTTCTTCCCTCTCCTC TTCCCTTTCTTCCTTATCCTCTTCTTTCCCCTCCTCCTCCTCTTTCTCCT CTTCCTCCTTCTCTTCTGCCCTTTCTTCCTTCTCCTCCTCTTCTTCCTTC TCCTCCTCTTCTTTCTTCTCCTCCTCCTCCTCTGCCTTCTCCTCCTCCTC CTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCT CCTCCTCCCTTCTCTCCTCCTCCTTCTCCTTCCCCTCCTCCTCCTTCTTC TCCTTCCCCTCCTCCTCCTTCTCCTCCTCCTGTTCCTCCTTCTCCTTTTC CTCCTCCTTCCCCTCTCCTCCTCCTTTTCTCTTCCTCCTCCTTCTCCTCC TCCTTTTCCTCCTCTTTCTCCCCTTTCTTCTCCTCCTCCTTCCCCTCCTC CTCCTTTTCCTCCTCCTTCCCCTCCTCCTCCTTTTCTCTTCCTCCTCCTC CTTCTTTTCCTCCTCTTTCTCCTCTTCCTCCTCTTCCTCCTCCTCCTCTT TCTCCTCCTCCTTCTCCTCCTCC	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SDK1_chr7_3296252_4274000	4264045	C C	CGTAGACC others(744): Show CGTAGACCTCTCCTGAGTGAGGGTGGCCGCGTAGAACTCTCCTGAGTGGG GGAGGCCGCGTAGACCTCTCCTGAGTGGGGGAGGCCGCGTAGACCTCTCC TGAGTGGGGAGGCCGCGTAGACCTCTCCTGAGTGGGGAGGCCGCGTAGAC CTCTCCTGAGTGGGGAGGCCGCGTAGACCTCTCCTGAGTGGGGGAGGCCG CGTAGACCTCTCCTGAGTGGGGAGGCCGCGTAGACCTCTCCTGAGTGGGG AGGCCGCGTAGACCTCTCCTGAGTGAGGGAGGCCGCGTAGATCTCTCCTG AGTGAGGAGGCCGTGTGGATCTCTCCTGAGTGAGGGAGGCCGCGTGGACC TCTCCTGGGGTAAGGAACGCCGCGTGGACCTCTCCTGGGGTAAGGAAGGC CGCGTGGACCTCTCCTGAGTGAGGGAGGCCGCGTGGACCTCTCCTGAGTG AGGGAGGCCGCGTGGACCTCTCCTGAGTGAGGGAGGCCGCGTGGACCTCT CCTGAGTGAGGGAGGCCGCGTGGACCTCTCCTGAGTGAGGGAGGCCGCGT GGACCTCTCCTGAGTGAGGGAGGCCGCGTGGACCTCTCCTGAGTGAGGGA GGCCGCGTGGACCTCTCCTGAGTGAGGGAGGCCGTGTGGACCTCTCCTGG GGTAAGGAAGGCCGTGTAGACCTCTCCTGAGTGAGGGAGGCTGCGTAGAT CTCTCCTGAGTGGGGAGGCGGTGTGGACCTCTCCTGGGGTAAGGAAGGCC GT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0042 a0002c0042	a0002c0042t0007 a0002c0042t0007	a0002c0042t0007g0108 a0002c0042t0007g0108	1	116	0.0086	751	c.638 others(770): Show c.6382-1061_6382-1060insAGGGTGGCCGCGTAGAACTCTCCTGA GTGGGGGAGGCCGCGTAGACCTCTCCTGAGTGGGGGAGGCCGCGTAGACC TCTCCTGAGTGGGGAGGCCGCGTAGACCTCTCCTGAGTGGGGAGGCCGCG TAGACCTCTCCTGAGTGGGGAGGCCGCGTAGACCTCTCCTGAGTGGGGGA GGCCGCGTAGACCTCTCCTGAGTGGGGAGGCCGCGTAGACCTCTCCTGAG TGGGGAGGCCGCGTAGACCTCTCCTGAGTGAGGGAGGCCGCGTAGATCTC TCCTGAGTGAGGAGGCCGTGTGGATCTCTCCTGAGTGAGGGAGGCCGCGT GGACCTCTCCTGGGGTAAGGAACGCCGCGTGGACCTCTCCTGGGGTAAGG AAGGCCGCGTGGACCTCTCCTGAGTGAGGGAGGCCGCGTGGACCTCTCCT GAGTGAGGGAGGCCGCGTGGACCTCTCCTGAGTGAGGGAGGCCGCGTGGA CCTCTCCTGAGTGAGGGAGGCCGCGTGGACCTCTCCTGAGTGAGGGAGGC CGCGTGGACCTCTCCTGAGTGAGGGAGGCCGCGTGGACCTCTCCTGAGTG AGGGAGGCCGCGTGGACCTCTCCTGAGTGAGGGAGGCCGTGTGGACCTCT CCTGGGGTAAGGAAGGCCGTGTAGACCTCTCCTGAGTGAGGGAGGCTGCG TAGATCTCTCCTGAGTGGGGAGGCGGTGTGGACCTCTCCTGGGGTAAGGA AGGCCGTGTAGACCTCTCCTGAGTG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	44/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SIGIRR_chr11_400716_419999	401321	G G	GCCCCGCT others(744): Show GCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGGCC CCGCTCACACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGGCC CCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGC TCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCAC ACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCCG GCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCC CCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCG CTCACACCCGGCCCCGCTCACACCCCGCCCCGCTCACCCCCGGCCCCGCT CACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCAC ACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCCGGCCCGCTCACACC CGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGC CCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGC TCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCGGCCCCGCT CACACCCGACCCGCTCACCCCCCGGCCCCCGCTCACCCCGGCCCCGCTCA CACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCC GC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	242	0.0041	751	c.45 others(762): Show c.4574_*4575insGCGGGTGTGAGCGGGCCGGGGGTGAGCGGGGCGG GTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGTGAGCGGGGGCCGGGGG GTGAGCGGGTCGGGTGTGAGCGGGGCCGCGGGTGTGAGCGGGGCGGGTGT GAGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGCCGGGGGTGAGC GGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGG CCGGGGGTGAGCGGGGCGGGTGTGAGCGGGCCGGGGTGTGAGCGGGGCGG GTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCCGGGG GTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGGTGTG AGCGGGGCCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGC GGGGCCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGG GCCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGCCG GGGGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGT GAGCGGGGCCGGGGGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAG CGGGGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGGGTGAGCGG GGCCGGGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGGGTGAGCGG GGCGGGTGTGAGCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4394		chr11	TogoVar
SLAIN1_chr13_77692687_77769229	77703948	T T	TAAAATAT others(744): Show TAAAATATATATACATATGTTTTATAAGTGTATATATACACATATAAAAT ATATATACATATGTTTTATAAGTGTATATATACACATAAAATATATATAC ATATGTTTTATATGTGTATATATACACATAAAATATATATACATATGTTT TATATGTGTATATATACACATATAAAATATATATACATATGTTTTATATG TGTATATATACACATATAAAATATATATACATATGTTTTATATGTGTATA TATACACATATAAAATATATATACATATGTTTTATATGTGTATATATACA CATATAAAATATATATACATATGTTTTATATGTGTATATATACACATATA AAATATATATACATATGTTTTATATGTGTATATATACACATATAAAATAT ATATACATATGTTTTATATGTGTATATATACACATATAAAATATATATAC ATATGTTTTATATGTATATATACATATAAAATATATATACATATGTTTTA TATGTATATATACATATAAAATATATATACATATGTTTTATATGTATATA TACATATAAAATATATATACATATGTTTTATATGTATATATATACATATA AAATATATATACATATAAAATATATACATATAAAATATATATACATATGT TTTATATGTATATATACATATAAAACATATATACATATGTTTTATATGTA TATATACATATAAATATATATACATATGTTTTATATGTATATATATACAT AG	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	300	0.0033	751	c.626 others(768): Show c.626+5434_626+5435insAGTGTATATATACACATATAAAATATAT ATACATATGTTTTATAAGTGTATATATACACATAAAATATATATACATAT GTTTTATATGTGTATATATACACATAAAATATATATACATATGTTTTATA TGTGTATATATACACATATAAAATATATATACATATGTTTTATATGTGTA TATATACACATATAAAATATATATACATATGTTTTATATGTGTATATATA CACATATAAAATATATATACATATGTTTTATATGTGTATATATACACATA TAAAATATATATACATATGTTTTATATGTGTATATATACACATATAAAAT ATATATACATATGTTTTATATGTGTATATATACACATATAAAATATATAT ACATATGTTTTATATGTGTATATATACACATATAAAATATATATACATAT GTTTTATATGTATATATACATATAAAATATATATACATATGTTTTATATG TATATATACATATAAAATATATATACATATGTTTTATATGTATATATACA TATAAAATATATATACATATGTTTTATATGTATATATATACATATAAAAT ATATATACATATAAAATATATACATATAAAATATATATACATATGTTTTA TATGTATATATACATATAAAACATATATACATATGTTTTATATGTATATA TACATATAAATATATATACATATGTTTTATATGTATATATATACATAGAA AATATATATACATATGTTTTATA	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLIT3_chr5_168656740_169306139	168726538	G G	GAGGGAGG others(744): Show GAGGGAGGCAGGGAGAGAGGGAGAGGGAGGCAGGGAGGGAGGGAGGGAGA GGGAGGCAGGGAGGGAGCGAGGGAGAGGGAGGCAAGGAGGGAGGGAGGGA GAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGCAAGGAGGGAGGGAGG GAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGA GGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGACGGAGGGAGGGAGGGAGG GAGGGAGAGGGAGGGAGGGAGGGAGGGAGAGGGAGGGTGGGTGGGAGGGA GGGAGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGTGGGTGGGAGGGAGG GAGAGGGAGGGTGGGAGGGAGAGGGAGGCAGGGAGACAGGGAGGCAGGGA GGGAGGGAGAGGGAGGCAGGGAGACAGGGAGGCAGGGAGGGAGGGAGAGG GAGGCAGGGAGACAGGGAGGCAGGGAGGCAGGGAGAGGGGGAGGCAGGGA GGGAGGGAGAGGGAGGCAGGGAGGGAGGGAGGGAGAGGGAGGCAGGGAGG GAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGAGGGGGAGGGAGGCAGGGA GAGGGAGGCAAGGAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGAGA GGGAGGGAGAGGGAGGCAGGGAGAGAGGGAGGGAGAGGGAGGCAGGGAGG GAGAGGGACGCAGGGGGAGAGGTAGGGAGGGAGAGAGGGAGGGAGGGAGA GA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0049 a0001c0049	a0001c0049t0011 a0001c0049t0011	a0001c0049t0011g0012 a0001c0049t0011g0012	1	132	0.0076	751	c.227 others(770): Show c.2271-2055_2271-2054insTCTCTCCCTCCCTCCCTCTCTCCCTC CCTACCTCTCCCCCTGCGTCCCTCTCCCTCCCTGCCTCCCTCTCCCTCCC TCTCTCCCTGCCTCCCTCTCCCTCCCTCTCCCTCCCTCCCTGCCTCCCTC TCCCTCCCTCCCTCCTTGCCTCCCTCTCCCTGCCTCCCTCCCCCTCCCTC CCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCCTGCCTCCCTCTCCCTCCC TCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTGCCTCCCCCTCTCCCTGCC TCCCTGCCTCCCTGTCTCCCTGCCTCCCTCTCCCTCCCTCCCTGCCTCCC TGTCTCCCTGCCTCCCTCTCCCTCCCTCCCTGCCTCCCTGTCTCCCTGCC TCCCTCTCCCTCCCACCCTCCCTCTCCCTCCCTCCCACCCACCCTCCCTC TCCCTCCCTCCCACCCTCCCTCTCCCTCCCTCCCACCCACCCTCCCTCTC CCTCCCTCCCTCCCTCCCTCTCCCTCCCTCCCTCCCTCCCTCCGTCTCCC TCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTC CCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCTCCTTGCCTCCCTC TCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCTCCTTGCCTCCC TCTCCCTCGCTCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCCTGCCTC CCTCTCCCTCTCTCCCTGCCTCCCT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	20/35			chr5	TogoVar
TBXAS1_chr7_139824264_140025293	139950776	A A	ACCCCCTC others(744): Show ACCCCCTCGCCCTCCATCTACGGGATCCCCTCGCCCTCCATCTACGGGAC CCCCTCACCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCC CCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCC TCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTC GCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGC CCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCC TCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTC CATCTACGGGACCCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCC ATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCAT CTACGGGACCCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATC TACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTA CGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACG GGACCCCCTCGCCCTCCATCTACGGGACCCCCCTCGCCCTCCATCTACGG GACCCCCTCGCCCTCCATCTACGGGACCCCCCTCGCCCTCCATCTACGGG ACCCCCCTCGCCCTCCATCTACGGGACCCCCCTCGCCCTCCATCTACGGG AC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	270	0.0037	751	c.451 others(768): Show c.451-2568_451-2567insTCCCCTCGCCCTCCATCTACGGGACCCC CTCACCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCT CGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCG CCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCC CTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCT CCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCC ATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCAT CTACGGGACCCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATC TACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTA CGGGACCCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTAC GGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGG GACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGA CCCCCTCGCCCTCCATCTACGGGACCCCCCTCGCCCTCCATCTACGGGAC CCCCTCGCCCTCCATCTACGGGACCCCCCTCGCCCTCCATCTACGGGACC CCCCTCGCCCTCCATCTACGGGACCCCCCTCGCCCTCCATCTACGGGACC CCCCTCGCCCTCCATCTACGGGA	TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
TCF3_chr19_1604292_1657615	1628084	C C	CAGGGGGT others(744): Show CAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGG AAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGA GCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGA GGCGGGAAGGGGACAGCAGAGCTCACGGGGATGAGGCGGGAAGGGGACAG CAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGAT GAGGCGGGAAGGGGACAGCAGAGCTCACGGGGATGAGGCGGGAAGGGGAC AGCAGAGCTCACGGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGG GTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGG GACAGCAGAGCTCACGGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACG GGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAA GGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCA CGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGAGGGTGGGGCGGGA AGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTC ACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAA GGGGACAGCAGAGCTCACAGAGGGTGGGGCGGGAAGGGGACAGCAGAGCT CA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0325 a0001c0003t0005g0325	1	352	0.0028	751	c.299 others(766): Show c.299-659_299-658insTGAGCTCTGCTGTCCCCTTCCCGCCCCACC CTCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTG TCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCAC CCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCTCTGTGAGCTCTGCT GTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCA CCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGC TGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCACCT CACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTC TGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCA CCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCGTGAGC TCTGCTGTCCCCTTCCCGCCTCATCCCCGTGAGTTCTGCTGTCCCCTTCC CGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCGTGA GCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCT TCCCGCCTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCC TGTGAGCTCTGCTGTCCCCTTTCCGCCTCACCCCCTGTGAGCTCTGCTGT CCCCTTCCCGCCTCACCCCCT	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628391	C C	CAGGGGTG others(744): Show CAGGGGTGAGGCGGGAAAGGGACAGCAGAACTCACGGGGTGAGGTGGGAA GGGGACACCAGAGCTCACAGGGGGTGATGCGGAAGGGGACAGCAGAGCTC ACAGGGGGTGAGGCGGGAAAGGGACAGCAGAACTCACGGGGTGAGGCGGG AAGGGGACAGCAGAGCTCACAGGGGTGATGCGGGAAGGGGACAGCAGAGC TCACAGGGGGTGAGGCGGAAAGGGGACAGCAGAGCTCACGGGGTGAGGCG GGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGGACAGCAGA GCTCACGGGGTGAGGCGGGAAGGGGACAGTAGAGCTCACAGGGGGTGAGG CGGGAAGGGGACAGTAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGTAG AGCTCACAGGGGGTGAGGCGGGAAGGGGACAGTAGAGCTCACGGGGGTGA GGCGGGAAGGGGACAGTAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACA GTAGAGCTCACGGGGGTGAGGCGGGAAGGGACAGTAGAGCTCACAGGGGG TGAGGCGGGAAGGGGACAGTAGAGCTCACGGGGTGAGGCGGGAAGGGGAC AGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGTAGAGCTCACGGG GGTGAGGCGGGAAGGGGACAGTAGAGCTCACAGGGGGTGAGGCGGGAAGG GGACAGTAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGTAGAGCTCAC AG	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0026 a0026	a0026c0040 a0026c0040	a0026c0040t0010 a0026c0040t0010	a0026c0040t0010g0266 a0026c0040t0010g0266	1	352	0.0028	751	c.299 others(766): Show c.299-966_299-965insCTGTGAGCTCTACTGTCCCCTTCCCGCCTC ACCCCCGTGAGCTCTACTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCT ACTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTACTGTCCCCTTCCCGC CTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCT CTACTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTACTGTCCCTTCCC GCCTCACCCCCGTGAGCTCTACTGTCCCCTTCCCGCCTCACCCCCTGTGA GCTCTACTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTACTGTCCCCTT CCCGCCTCACCCCCTGTGAGCTCTACTGTCCCCTTCCCGCCTCACCCCGT GAGCTCTACTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTACTGTCCC CTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCCTTCCCGCCTCACCCC GTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCC CTTTCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCATCACCC CTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTC CCTTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCGCATCACC CCCTGTGAGCTCTGGTGTCCCCTTCCCACCTCACCCCGTGAGTTCTGCTG TCCCTTTCCCGCCTCACCCCT	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1629106	G G	GGGGGTGA others(744): Show GGGGGTGAGGCGGGAAGGGGACAGTAGAGCTCACGGGGGTGAGGCGGGAA GGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGTAGAGCT CACGGGGGTGAGGCGGGAAGGGACAGTAGAGCTCACGGGGGTGAGGCGGG AAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGTAGAG CTCACGGGGGTGAGGCGGGAAGGGGACAGTAGAGCTCACGGGGGTGAGGC GGGAAGGGGACAGCAGAGCTCACAGGGGTGAGGCGGGAAGGGGACAGTAG AGCTCACGCGGGGTGAGGCGGGAAGGGGACAGTAGAGCTCACAGGGGGTG AGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGAC AGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGG GGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGATGGGGCGGGAAGGG GACAGAAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAG GGGGTGGAGCGTGAAGGGGACAGCAGAGCTCATGGGGATGGGGCGGGAAG GGGACAGAAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCAC AGGGGGTGGAGCGTGAAGGGGACAGCAGAGCTCATGGGGATGGGGCGGGA AGGGACAGCAGAGCTCATGGGGATGGGGCGGGAAGGGGACAGCAGAGCTC AC	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0026 a0026	a0026c0040 a0026c0040	a0026c0040t0010 a0026c0040t0010	a0026c0040t0010g0266 a0026c0040t0010g0266	1	352	0.0028	751	c.299 others(768): Show c.299-1681_299-1680insGTGAGCTCTGCTGTCCCCTTCCCGCCCC ATCCCCATGAGCTCTGCTGTCCCTTCCCGCCCCATCCCCATGAGCTCTGC TGTCCCCTTCACGCTCCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCC TCACCCCGTGAGCTCTTCTGTCCCCTTCCCGCCCCATCCCCATGAGCTCT GCTGTCCCCTTCACGCTCCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCG CCTCACCCCGTGAGCTCTTCTGTCCCCTTCCCGCCCCATCCCCGTGAGCT CTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGTTCTGCTGTCCCCTTCCC GCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTG AGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTACTGTCCCC TTCCCGCCTCACCCCGCGTGAGCTCTACTGTCCCCTTCCCGCCTCACCCC TGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTACTGTC CCCTTCCCGCCTCACCCCCGTGAGCTCTACTGTCCCCTTCCCGCCTCACC CCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTACT GTCCCTTCCCGCCTCACCCCCGTGAGCTCTACTGTCCCCTTCCCGCCTCA CCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTA CTGTCCCCTTCCCGCCTCACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TERT_chr5_1248167_1300068	1273495	G G	GACCGCCA others(744): Show GACCGCCATCCACAGTCACCACATCAGACCCCACGACCACCATCCACAGT CACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCATG ACCGCCATCCACAGTCACCACACATCAGACCCCACAACCGCCATCCACAG TCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCC CACGACCGCCATCCACAGTCACATCAGACCCTACGACCGCCATCCACAGT CACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACC CCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATC CACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCA GACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCA TCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCAC ACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCAC GACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGT CACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACC CCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATC CACAGTCACCACACATCAGACCCCACGACTGCCATCCACAGTCACCACAT CA	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	392	0.0026	751	c.228 others(770): Show c.2287-1216_2287-1215insTGATGTGGTGACTGTGGATGGCAGTC GTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGT GTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGA TGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTC TGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTG TGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGT GGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGG TGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGG TCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGT GTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATG GCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTAGGGTC TGATGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGAT GGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTTGTGGGGTCT GATGTGTGGTGACTGTGGATGGCGGTCATGGGGTCTGATGTGGTGACTGT GGATGGCGGTCGTGGGGTCTGATGTGACTGTGGATGGTGGTCGTGGGGTC TGATGTGGTGACTGTGGATGGCGGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TMPRSS9_chr19_2355265_2431261	2418917	C C	CCCTCCCT others(744): Show CCCTCCCTCCCTTTCCTTCCCTCCCTCCCCTTCCCTCCCTACCTTTCCTT CCCTTCTCTCCCTCCCTTTCCTCCCCTTCCCTCCCTCCCTTTCCTTCCCT CCATCCCTTTCCTTCCCTTCCCTTCCCTCCCTCCCTTTCCTTTCCTTCTC TCCTTCCCTTTCCTCCCTCCACTTCCTTCCCTCCCTCTTTCCTTCCCTGC CTTCCCTCCCTACCTCCCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCC CTACGTCTCCTTTCCTTCCCTCCCTCCCTACGTCTCCTTTCCTTCCCTCC CTCCCTCTCCTTCCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCCAC CCTCCCTCTCCTTCCCTTCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTC CCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCTCCTTCCCTCCCCACCCT CCCTCTCCTTCCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCCACCC TCCCTCTCCTTCCCTTCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCC TCTCCTTCCCTCCCCACCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCTC CTTCCCTTCCCTCCCCACCCTCCCTCCCCTTCCCACCCTCCCTCCCTCTC CTTCCCTTTCCTCCCTCTCTCTCCTTCCCTTCCCTCCCTCCCTCCCTTTC CTTCCCCCATCCCTTTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCCT CT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0002 a0005c0010t0002	a0005c0010t0002g0083 a0005c0010t0002g0083	1	114	0.0088	751	c.215 others(768): Show c.2154+782_2154+783insCCCTCCCTTTCCTTCCCTCCCTCCCCTT CCCTCCCTACCTTTCCTTCCCTTCTCTCCCTCCCTTTCCTCCCCTTCCCT CCCTCCCTTTCCTTCCCTCCATCCCTTTCCTTCCCTTCCCTTCCCTCCCT CCCTTTCCTTTCCTTCTCTCCTTCCCTTTCCTCCCTCCACTTCCTTCCCT CCCTCTTTCCTTCCCTGCCTTCCCTCCCTACCTCCCCTTCCCTCCCTACC TCTCCTTTCCTTCCCTCCCTACGTCTCCTTTCCTTCCCTCCCTCCCTACG TCTCCTTTCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCTC CTTCCCTTCCCTCCCCACCCTCCCTCTCCTTCCCTTCCTCCCTCTCCTTC CCTTCCCTCCCCACCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTC TCCTTCCCTCCCCACCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCTCCT TCCCTTCCCTCCCCACCCTCCCTCTCCTTCCCTTCCTCCCTCTCCTTCCC TTCCCTCCCCACCCTCCCTCTCCTTCCCTCCCCACCCTCCCTCTCCTTCC CTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCCCCTTC CCACCCTCCCTCCCTCTCCTTCCCTTTCCTCCCTCTCTCTCCTTCCCTTC CCTCCCTCCCTCCCTTTCCTTCCCCCATCCCTTTCCTTCCCTCCCTCCCT TTCCTTCCCTCCCTCCCTCTCCT	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TOLLIP_chr11_1269371_1314632	1287808	C C	CGCCGCAC others(744): Show CGCCGCACCCTCCCCGCCGCAGCCTCACCGCCGCACCCTCCCCGCCGCAG CCTCACCGCCGCACCCTCCCCGCCGCAGCCTCACCGCCGCACCCTCCCCG CCGCAGCCTCACCGCCGCACCCTCCCCGCCGCAGCCTCACCGCCGCACCC TCCCCGCCGCAGCCTCACCGCCGCACCCTCCCCGCCGCAGCCTCACCGCC GCACCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCACCCTC CCCGCCGCAGCCTCCCCGCCGCACCCGCCGCAGCCTCCCCGCCGCACCCT CCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCACCGCCG CACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCC CCGCCGCACCCTCTCCGCCGCAGCCTCCCCGCCGCACCCTCTCCGCCGCA GCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCC GCCGCAGCCTCCCCGCCGCACCCTCTCTGCCGCAGCCTCCCCGCCGCACC CTCTCTGCCGCAGCCTCCCCGCCGCACCCTCTCTGCCGCAGCCTCCCCGC CGCACCCTCTCTGCCGCAGCCTCCCCGCCGCACCCTCTCTGCCGCAGCCT CCCCGCCGCACCCTCTCTGCCGCAGCCTCCCCGCCGCACCCTCTCTGCCG CAGCCTCCCCGCCGCACCCTCTCTGCCGCAGCCTCCCCGCCGCACCCTCT CT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0319 a0001c0001t0004g0319	1	348	0.0029	751	c.519 others(766): Show c.519+815_519+816insAGAGAGGGTGCGGCGGGGAGGCTGCGGCAG AGAGGGTGCGGCGGGGAGGCTGCGGCAGAGAGGGTGCGGCGGGGAGGCTG CGGCAGAGAGGGTGCGGCGGGGAGGCTGCGGCAGAGAGGGTGCGGCGGGG AGGCTGCGGCAGAGAGGGTGCGGCGGGGAGGCTGCGGCAGAGAGGGTGCG GCGGGGAGGCTGCGGCAGAGAGGGTGCGGCGGGGAGGCTGCGGCAGAGAG GGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGC GGGGAGGGTGCGGCGGGGAGGCTGCGGCGGAGAGGGTGCGGCGGGGAGGC TGCGGCGGAGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGG GGAGGCTGCGGCGGGGAGGGTGCGGCGGTGAGGCTGCGGCGGGGAGGGTG CGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGT GCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGG GAGGGTGCGGCGGGGAGGGTGCGGCGGTGAGGCTGCGGCGGGGAGGGTGC GGCGGTGAGGCTGCGGCGGGGAGGGTGCGGCGGTGAGGCTGCGGCGGGGA GGGTGCGGCGGTGAGGCTGCGGCGGGGAGGGTGCGGCGGTGAGGCTGCGG CGGGGAGGGTGCGGCGGTGAGGCTGCGGCGGGGAGGGTGCGGCGGTGAGG CTGCGGCGGGGAGGGTGCGGC	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507168	C C	CATACGTA others(744): Show CATACGTAAATGTATATATGTATATATACATGTATTATACATACGTAAAT GTATATATGTATATATACATGTATTATACATACGTAAATGTATATATGTA TATATACATGTATTATACATACGTAAATGTATATATGTATATATACATGT ATTATACATACGTAAATGTATATATGTATATATACATGTATTATACATAC GTAAATGTATATATGTATATATACATGTATTATACATACGTAAATGTATA TATGTATATATACATGTATTATACATACGTAAATGTATATATGTATATAT ACATGTATTATACATACGTAAATGTATATATGTATATATACATGTATTAT ACATACGTAAATGTATATATGTATATATACATGTATTATACATACGTAAA TGTATAATGTATATATACATGTATTATACATACGTAAATGTATAATGTAT ATATACATTATACATACGTAAATGTATAATGTATAATGTATATATACATT ATACATACGTAAATGTATAATGTATATATACATTATACATACGTAAATGT ATAATGTATATATACATTATACATACGTAAATGTATAATGTATATATACA TTATACATACGTAAATGTATAATGTATATATACATTATACATACGTAAAT GTATAATGTATATATACATTATACATACGTAAATGTATAATGTATATATA CATTATACATACGTAAATGTATATATATACATTATACATACGTAAATGTA TT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0161 a0001c0001t0002g0161	1	388	0.0026	751	c.-23 others(768): Show c.-23+2879_-23+2880insAATACATTTACGTATGTATAATGTATAT ATATACATTTACGTATGTATAATGTATATATACATTATACATTTACGTAT GTATAATGTATATATACATTATACATTTACGTATGTATAATGTATATATA CATTATACATTTACGTATGTATAATGTATATATACATTATACATTTACGT ATGTATAATGTATATATACATTATACATTTACGTATGTATAATGTATATA TACATTATACATTTACGTATGTATAATGTATATATACATTATACATTATA CATTTACGTATGTATAATGTATATATACATTATACATTTACGTATGTATA ATACATGTATATATACATTATACATTTACGTATGTATAATACATGTATAT ATACATATATACATTTACGTATGTATAATACATGTATATATACATATATA CATTTACGTATGTATAATACATGTATATATACATATATACATTTACGTAT GTATAATACATGTATATATACATATATACATTTACGTATGTATAATACAT GTATATATACATATATACATTTACGTATGTATAATACATGTATATATACA TATATACATTTACGTATGTATAATACATGTATATATACATATATACATTT ACGTATGTATAATACATGTATATATACATATATACATTTACGTATGTATA ATACATGTATATATACATATATACATTTACGTATGTATAATACATGTATA TATACATATATACATTTACGTAT	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRIM54_chr2_27277429_27312435	27304386	A A	ACCAGCCT others(744): Show ACCAGCCTGGGCGACAGAGCGAGACCTCCATGTCTAAAAAAAAAATTTTT TTTTTTTAGAGATGGAGGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG TAGTGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTGT CCTGCCTCAGCCTCCTGAGTAGCTGGAACTACAGGCGCCCACCACCACGC CCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGC CAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGCTTCCGCCTCCC AAAGTACTGGGATTACAGGCGTGAGCCACCGCGCCCGGACTAAAACAATG TTTTTGTTTTAATTAGTTGGGAGTGGTGGCATGTGCCTGTAATCCCAGCT ACTAGGGAGGCTGAAGCAGGAGGATCACCTGAGTGCAGGAGTTTGAGGAT CCAGTGAACAATGATCATACCACTGCACTCCAGCCTGAGTGACAGAGTGA GACTGTCTCTTAAAAAAAAAAAATTGGCCCCATGCAGTGGCTTGTGTCTG TAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACAAGGTCAAGAC CATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAAT TAGCTGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGAGAATGG CATGAACTCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCACGCCACTGCA CT	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	276	0.0036	751	c.514 others(766): Show c.514-563_514-562insCGACAGAGCGAGACCTCCATGTCTAAAAAA AAAATTTTTTTTTTTTAGAGATGGAGGTCTCGCTCTGTCGCCCAGGCTGG AGTGCAGTGTAGTGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCA CGCCATTGTCCTGCCTCAGCCTCCTGAGTAGCTGGAACTACAGGCGCCCA CCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCAC CGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGCTT CCGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGCGCCCGGACT AAAACAATGTTTTTGTTTTAATTAGTTGGGAGTGGTGGCATGTGCCTGTA ATCCCAGCTACTAGGGAGGCTGAAGCAGGAGGATCACCTGAGTGCAGGAG TTTGAGGATCCAGTGAACAATGATCATACCACTGCACTCCAGCCTGAGTG ACAGAGTGAGACTGTCTCTTAAAAAAAAAAAATTGGCCCCATGCAGTGGC TTGTGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACAA GGTCAAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAAT ACAAAAAATTAGCTGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTC GGAGAATGGCATGAACTCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCAC GCCACTGCACTCCAGCCTGGG	TRIM54	ENSG00000138100.14	transcript	ENST00000380075.7	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRIM54_chr2_27277429_27312435	27304386	A A	ACCAGCCT others(744): Show ACCAGCCTGGGCGACAGAGCGAGACCTCCATGTCTAAAAAAAAATTTTTT TTTTTTTAGAGATGGAGGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG TAGTGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTGT CCTGCCTCAGCCTCCTGAGTAGCTGGAACTACAGGCGCCCACCACCACGC CCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGC CAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGCTTCCGCCTCCC AAAGTACTGGGATTACAGGCGTGAGCCACCGCGCCCGGACTAAAACAATG TTTTTGTTTTAATTAGTTGGGAGTGGTGGCATGTGCCTGTAATCCCAGCT ACTAGGGAGGCTGAAGCAGGAGGATCACCTGAGTGCAGGAGTTTGAGGAT CCAGTGAACAATGATCATACCACTGCACTCCAGCCTGAGTGACAGAGTGA GACTGTCTCTTAAAAAAAAAAAATTGGCCCCATGCAGTGGCTTGTGTCTG TAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACAAGGTCAAGAC CATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAAT TAGCTGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGAGAATGG CATGAACTCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCACGCCACTGCA CT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	276	0.0036	751	c.514 others(766): Show c.514-563_514-562insCGACAGAGCGAGACCTCCATGTCTAAAAAA AAATTTTTTTTTTTTTAGAGATGGAGGTCTCGCTCTGTCGCCCAGGCTGG AGTGCAGTGTAGTGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCA CGCCATTGTCCTGCCTCAGCCTCCTGAGTAGCTGGAACTACAGGCGCCCA CCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCAC CGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGCTT CCGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGCGCCCGGACT AAAACAATGTTTTTGTTTTAATTAGTTGGGAGTGGTGGCATGTGCCTGTA ATCCCAGCTACTAGGGAGGCTGAAGCAGGAGGATCACCTGAGTGCAGGAG TTTGAGGATCCAGTGAACAATGATCATACCACTGCACTCCAGCCTGAGTG ACAGAGTGAGACTGTCTCTTAAAAAAAAAAAATTGGCCCCATGCAGTGGC TTGTGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACAA GGTCAAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAAT ACAAAAAATTAGCTGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTC GGAGAATGGCATGAACTCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCAC GCCACTGCACTCCAGCCTGGG	TRIM54	ENSG00000138100.14	transcript	ENST00000380075.7	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870214	C C	CCACACAC others(744): Show CCACACACACCACACACCCCCCACACACCACACACCATACACACCACACC CCACACACACCACACCCCCCACACACCACACCCCATACACACCACACCCC ACACACACCACACACCCCCCACACACCACACACCCCACACACACCACACC CCATACACACCACACCCCACACACACCACACACCCCCCACACACCACACA CCCCACACACACCACACCCCATACACACCACACCCCACACACACCACACA CCCCCCACACACCACACACCCCACACACACCACACCCCACACACACCACA CCCCACACACACCACACCCCACACACACCACACCCCACACACACCACACC CCACACACACCACACACCCCATACACACCACACACCCCCCACACACCACA CCCCACACACACCACACACCCCACACACACCACACCCCACACACACCACA CCCCACACACACCACACCCCACACACACCACACACCCCATACACACCACA CACCCCCCACACACCACACCCCATACACACCACACACCCCACACACACCA CACCCCACACACACCACACCCCACACACCACACCCCACACACACCACACA CCCCACACACACCACACCCCACACACACCACACACCCCCCACACACCACA CCCCATACACACCACACCCCACACACACCACACACCCCACACACACCACA CACCCCACACACACCACACAAACCACACACCCTACACACCCCACACACAC CA	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18973.hp2 NA19010.hp1 NA18951.hp1 NA18973.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0065 a0001c0001t0003g0083 a0001c0001t0003g0158 a0001c0001t0003g0065 a0001c0001t0003g0083 a0001c0001t0003g0158	3	338	0.0089	751	c.35 others(770): Show c.35+21490_*35+21491insCACACACCCCCCACACACCACACACC ATACACACCACACCCCACACACACCACACCCCCCACACACCACACCCCAT ACACACCACACCCCACACACACCACACACCCCCCACACACCACACACCCC ACACACACCACACCCCATACACACCACACCCCACACACACCACACACCCC CCACACACCACACACCCCACACACACCACACCCCATACACACCACACCCC ACACACACCACACACCCCCCACACACCACACACCCCACACACACCACACC CCACACACACCACACCCCACACACACCACACCCCACACACACCACACCCC ACACACACCACACCCCACACACACCACACACCCCATACACACCACACACC CCCCACACACCACACCCCACACACACCACACACCCCACACACACCACACC CCACACACACCACACCCCACACACACCACACCCCACACACACCACACACC CCATACACACCACACACCCCCCACACACCACACCCCATACACACCACACA CCCCACACACACCACACCCCACACACACCACACCCCACACACCACACCCC ACACACACCACACACCCCACACACACCACACCCCACACACACCACACACC CCCCACACACCACACCCCATACACACCACACCCCACACACACCACACACC CCACACACACCACACACCCCACACACACCACACAAACCACACACCCTACA CACCCCACACACACCACACACACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
UCN_chr2_27302400_27313445	27304386	A A	ACCAGCCT others(744): Show ACCAGCCTGGGCGACAGAGCGAGACCTCCATGTCTAAAAAAAAAATTTTT TTTTTTTAGAGATGGAGGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG TAGTGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTGT CCTGCCTCAGCCTCCTGAGTAGCTGGAACTACAGGCGCCCACCACCACGC CCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGC CAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGCTTCCGCCTCCC AAAGTACTGGGATTACAGGCGTGAGCCACCGCGCCCGGACTAAAACAATG TTTTTGTTTTAATTAGTTGGGAGTGGTGGCATGTGCCTGTAATCCCAGCT ACTAGGGAGGCTGAAGCAGGAGGATCACCTGAGTGCAGGAGTTTGAGGAT CCAGTGAACAATGATCATACCACTGCACTCCAGCCTGAGTGACAGAGTGA GACTGTCTCTTAAAAAAAAAAAATTGGCCCCATGCAGTGGCTTGTGTCTG TAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACAAGGTCAAGAC CATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAAT TAGCTGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGAGAATGG CATGAACTCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCACGCCACTGCA CT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	322	0.0031	751	c.31 others(762): Show c.3134_*3135insAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCT CTGCCTCCCGAGTTCATGCCATTCTCCGAGTAGCTGGGACTACAGGCGCC CACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTC ACCGTGTTAGCCAGGATGGTCTTGACCTTGTGATCCGCCTGCCTCGGCCT CCCAAAGTGCTGGGATTACAGACACAAGCCACTGCATGGGGCCAATTTTT TTTTTTTAAGAGACAGTCTCACTCTGTCACTCAGGCTGGAGTGCAGTGGT ATGATCATTGTTCACTGGATCCTCAAACTCCTGCACTCAGGTGATCCTCC TGCTTCAGCCTCCCTAGTAGCTGGGATTACAGGCACATGCCACCACTCCC AACTAATTAAAACAAAAACATTGTTTTAGTCCGGGCGCGGTGGCTCACGC CTGTAATCCCAGTACTTTGGGAGGCGGAAGCGGGCGGATCACGAGGTCAG GAGATCAAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAA ATACAAAAAATTAGCTGGGCGTGGTGGTGGGCGCCTGTAGTTCCAGCTAC TCAGGAGGCTGAGGCAGGACAATGGCGTGAACCCAGGAGGTGGAGCTTGC AGTGAGCCGAGATCACTACACTGCACTCCAGCCTGGGCGACAGAGCGAGA CCTCCATCTCTAAAAAAAAAAAATTTTTTTTTTAGACATGGAGGTCTCGC TCTGTCGCCCAGGCTGG	UCN	ENSG00000163794.6	transcript	ENST00000296099.2	protein_coding		3013		chr2	TogoVar
UCN_chr2_27302400_27313445	27304386	A A	ACCAGCCT others(744): Show ACCAGCCTGGGCGACAGAGCGAGACCTCCATGTCTAAAAAAAAATTTTTT TTTTTTTAGAGATGGAGGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG TAGTGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTGT CCTGCCTCAGCCTCCTGAGTAGCTGGAACTACAGGCGCCCACCACCACGC CCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGC CAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGCTTCCGCCTCCC AAAGTACTGGGATTACAGGCGTGAGCCACCGCGCCCGGACTAAAACAATG TTTTTGTTTTAATTAGTTGGGAGTGGTGGCATGTGCCTGTAATCCCAGCT ACTAGGGAGGCTGAAGCAGGAGGATCACCTGAGTGCAGGAGTTTGAGGAT CCAGTGAACAATGATCATACCACTGCACTCCAGCCTGAGTGACAGAGTGA GACTGTCTCTTAAAAAAAAAAAATTGGCCCCATGCAGTGGCTTGTGTCTG TAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACAAGGTCAAGAC CATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAAT TAGCTGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGAGAATGG CATGAACTCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCACGCCACTGCA CT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	322	0.0031	751	c.31 others(762): Show c.3134_*3135insAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCT CTGCCTCCCGAGTTCATGCCATTCTCCGAGTAGCTGGGACTACAGGCGCC CACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTC ACCGTGTTAGCCAGGATGGTCTTGACCTTGTGATCCGCCTGCCTCGGCCT CCCAAAGTGCTGGGATTACAGACACAAGCCACTGCATGGGGCCAATTTTT TTTTTTTAAGAGACAGTCTCACTCTGTCACTCAGGCTGGAGTGCAGTGGT ATGATCATTGTTCACTGGATCCTCAAACTCCTGCACTCAGGTGATCCTCC TGCTTCAGCCTCCCTAGTAGCTGGGATTACAGGCACATGCCACCACTCCC AACTAATTAAAACAAAAACATTGTTTTAGTCCGGGCGCGGTGGCTCACGC CTGTAATCCCAGTACTTTGGGAGGCGGAAGCGGGCGGATCACGAGGTCAG GAGATCAAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAA ATACAAAAAATTAGCTGGGCGTGGTGGTGGGCGCCTGTAGTTCCAGCTAC TCAGGAGGCTGAGGCAGGACAATGGCGTGAACCCAGGAGGTGGAGCTTGC AGTGAGCCGAGATCACTACACTGCACTCCAGCCTGGGCGACAGAGCGAGA CCTCCATCTCTAAAAAAAAAAAAATTTTTTTTTAGACATGGAGGTCTCGC TCTGTCGCCCAGGCTGG	UCN	ENSG00000163794.6	transcript	ENST00000296099.2	protein_coding		3013		chr2	TogoVar
USP2_chr11_119350215_119386690	119351506	C C	CCTCCCCT others(744): Show CCTCCCCTCCCCTCCCCTCCCCTCCTCTGTCCTCCCCTCCCCTCCCCTCC TCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCC TCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCC TCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCC TCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCT CTCCTCCGCTCCCGCTCCCCTCTCCTCCACTCCTCTCCCCTCCCTTCCCC TCTCCTCCCCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCCCTCCTC TCTCCTCCCCTCCCCTCCCCTCTCTCCTCCGCTCCCCTCCCCTCTCCTCC GCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCC CCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCT CCTTCCCTCCCCTCTCCTCTGCTCCTCTCCCCTCCCTTCCCCTCTCCTCC CCTCCTCTCTCCTCCCCTCCCCTCTCCTCCGCTCCCCTCCCCTCTCCTCC ACTCCTCTCCCCTCCCCTCCTCTCTCCTCCACTCCTCTCCCCTCCTCTCC TCTCTCCTCCCCTCCCCTCTCCTCCCCTCCCCACCCCTCCCCTCCCCTCC TTTCTCCTCCCCTCCCCACGGCTCCCCTCCCCTCCTTTCTCCTCCCTTGC CG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0096 a0001c0004t0005g0096	1	202	0.0050	751	c.53 others(762): Show c.5328_*5329insCGGCAAGGGAGGAGAAAGGAGGGGAGGGGAGCCG TGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGGAGGAG AGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGAGAGG AGGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGGGGAGCGGAGGAGAGGGG AGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGCAG AGGAGAGGGGAGGGAAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGG AGAGGAGCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGG AAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGCGGAGGAGAGAGG GGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGAGAGGGGAAGGGAGG GGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGTGGAGGAGAGG GGAGCGGGAGCGGAGGAGAGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGG AGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGG AGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGG AGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGG AGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGACAGAGGAGGGG AGGGGAGGGGAGGGGAG	USP2	ENSG00000036672.16	transcript	ENST00000260187.7	protein_coding		3708		chr11	TogoVar
ADPRHL1_chr13_113394611_113458488	113424685	T T	TATCCACC others(745): Show TATCCACCATCACCATCCACCCACCCATCCATTCACCATCCACTCACCAT CACCCATCCATTCGCCCACCCATTTATCAACCCATCCATTCACCCACCCT TCCACCACCCACCCACCACCCATCCATATACCCACCCACCCATCAATTCA CCCGTCCACTCATCCATCCACCCACCCATTCATCCATTCACCCACCCATT CATCCATCCACCCATCCATTCATCCATTCACCCACCCATTCATCCATCCA CCCATCCATTCATCCATCCACCCACCCATTCATCCATCCACCCATCCATT CATCCATCCACCCATCCATTCATCCATTCACCCACCCATTCATCCATCCA CCCATCCATTCATCCATTCACCCACCCACTCATCCATCCACCCATCCATT CATCCATTCACCCACCCATTCATCCATCCACCCATCCATTCATCCATTCA CCCACCCATTCATCCATCCACCCATCCATTCATCCATTCACCCATCCATT CATCCATCCACCCATCCATTCATCCATTCACCCACCCACTCATCCATCCA CCCATCCATTCGCCCACCCATTTACCTACCCATTAATTCACCCACCCTTC CACCACCCACCCACCCATCCATATACCCACCCACCCATTCACCCATCCAT TCATCCATCCACCCACCCACCCATTCACCCACCCACCCAGCCATCTCACC CATTCACCCATCCACTCATCCATTCACCTATCCACCCACCCATCCACTCA TCC	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0210 a0002c0001t0001g0210	1	262	0.0038	752	c.775 others(767): Show c.775-337_775-336insGGATGAGTGGATGGGTGGGTGGATAGGTGA ATGGATGAGTGGATGGGTGAATGGGTGAGATGGCTGGGTGGGTGGGTGAA TGGGTGGGTGGGTGGATGGATGAATGGATGGGTGAATGGGTGGGTGGGTA TATGGATGGGTGGGTGGGTGGTGGAAGGGTGGGTGAATTAATGGGTAGGT AAATGGGTGGGCGAATGGATGGGTGGATGGATGAGTGGGTGGGTGAATGG ATGAATGGATGGGTGGATGGATGAATGGATGGGTGAATGGATGAATGGAT GGGTGGATGGATGAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGG ATGAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGGATGAGTGGGT GGGTGAATGGATGAATGGATGGGTGGATGGATGAATGGGTGGGTGAATGG ATGAATGGATGGGTGGATGGATGAATGGATGGGTGGATGGATGAATGGGT GGGTGGATGGATGAATGGATGGGTGGATGGATGAATGGGTGGGTGAATGG ATGAATGGATGGGTGGATGGATGAATGGGTGGGTGAATGGATGAATGGGT GGGTGGATGGATGAGTGGACGGGTGAATTGATGGGTGGGTGGGTATATGG ATGGGTGGTGGGTGGGTGGTGGAAGGGTGGGTGAATGGATGGGTTGATAA ATGGGTGGGCGAATGGATGGGTGATGGTGAGTGGATGGTGAATGGATGGG TGGGTGGATGGTGATGGTGGAT	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	5/7			chr13	TogoVar
AKR1C2_chr10_4982775_5008857	5006593	C C	CCCCCCCC others(745): Show CCCCCCCCCCAACCAAAAAAAATATCTCACACCAGTTAGAATGGCGATCA TTAAAAAGTCAAGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGGA ACACTTTTACACTGTTGGTGGGACTGTTAACTAGTTCAACCATTGTGGAA GTCAGTGTGGTGATTCCTCAGGGATCTTGAACTAGAAATACCATTTGACC CAGCCATCCCATTACTGGGTATATACCCAAAGGATTATAAATCATGCTGC TATAAAGACACATGCACACGTATGTTTATTGCAGCACTATTCACAATAGC AAAGACTTGGAACCAACCTAAAAGACCAACAACGATAGACTGGATTAAGA AAATGTGGCACATATACACCATGGAATACTATGCAGTCATAAAAAATGAT GAGTTCACGTCCTTTGTAGGGACATGGATGAAACTGGAAACCATCATTTT CAGCAAACTATCGCAAGGACAAAAAAAACCAAACACCACATGTTCTCACT CATAGTGGGAATTGAACAATGAGAACACATGGACACAGGAAGGGGAACAT CACACACCGGGGCCTGTTGTGGTGTGGGGGGAGGGGGGAGGGATAGCATT AGGAGATATACCTAATGCTAAATGACGAGTTAATGGGTGCAGCATACCAA CATGGCACATGTATACATATGTAACAAACCTGCACATTGTGCACATGTAC CCTAAAACTTAAAGTATAATAATAATAAAATTAAAAATAAATAAATAAAT AAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0007 a0001c0001t0004g0007	1	412	0.0024	752	c.-27 others(763): Show c.-2759_-2758insTTTATTTATTTATTTATTTTTAATTTTATTATTA TTATACTTTAAGTTTTAGGGTACATGTGCACAATGTGCAGGTTTGTTACA TATGTATACATGTGCCATGTTGGTATGCTGCACCCATTAACTCGTCATTT AGCATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCCACACCA CAACAGGCCCCGGTGTGTGATGTTCCCCTTCCTGTGTCCATGTGTTCTCA TTGTTCAATTCCCACTATGAGTGAGAACATGTGGTGTTTGGTTTTTTTTG TCCTTGCGATAGTTTGCTGAAAATGATGGTTTCCAGTTTCATCCATGTCC CTACAAAGGACGTGAACTCATCATTTTTTATGACTGCATAGTATTCCATG GTGTATATGTGCCACATTTTCTTAATCCAGTCTATCGTTGTTGGTCTTTT AGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCTGCAATAAACATAC GTGTGCATGTGTCTTTATAGCAGCATGATTTATAATCCTTTGGGTATATA CCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCAAGATCCCT GAGGAATCACCACACTGACTTCCACAATGGTTGAACTAGTTAACAGTCCC ACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTG TTGTTTCTTGACTTTTTAATGATCGCCATTCTAACTGGTGTGAGATATTT TTTTTGGTTGGGGGGGGG	AKR1C2	ENSG00000151632.18	transcript	ENST00000380753.9	protein_coding		2737		chr10	TogoVar
ANKRD28_chr3_15662236_15802979	15742674	A A	AGCCAGCC others(745): Show AGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCACCGTCTGGGAGGGAGGTGGGGGGGGGGTCAGTCTCCCCCC GGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCC TACTGTGAAGTGAGGATCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAA GGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCTGGGAGG GAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGAGGG AGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTG AGGGGCACCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCTC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCAGGCTAGCCGCCCCGTCTGG GAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGGGTCAGCCCCC CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGAGGGGTCAGTCCCCC GCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTTCAGCCCCCG CCC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0227 a0001c0002t0017g0227	1	340	0.0029	752	c.352 others(769): Show c.352-5442_352-5441insGGGCGGGGGCTGAACCCCCCCACCTCCC TCCCGGACAGGGCGGCTGGCCGGGCGGGGGACTGACCCCTCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCC CGGACTGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCACCTCCCTCCCAGACGGGGCGGCTAGCCTGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGAGGCCGGGCAGAGGCGCCCCTCAC CTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGTGCCCCTCACCTCCCAGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGATGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCACCTCCTTCCCGGATGGGGCGGCTGGCCGGG CAGAGGGGATCCTCACTTCACAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGGGGAGACTGACCCCCCCCCCAC CTCCCTCCCAGACGGTGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGC	ANKRD28	ENSG00000206560.12	transcript	ENST00000683139.1	protein_coding	4/27			chr3	TogoVar
AP2A2_chr11_920870_1017240	975421	T T	TGTGTGAG others(745): Show TGTGTGAGCCGACGTCGGAGAGCAGCGGTGGGGTCCTCGGTCTCCCTCGT GTGAGCCGACATCGGAGAGTAGCGGTGGGGTCCTCGGTCTCCCTCGTGTG AGCCGACGTCGGAGAGTAGCGGTGGGGTCCTCGGTCTCCCTCGTGTGAGC CGACGTCGGAGAGTAGCGGTGGGGTCCTCGGTCTCCCTCGTGTGAGCCGA CGTCGGAGAGTAGCGGTGGGGTCCTCGGTCTCCCTCGTGTGAGCCGACGT CGGAGAGTAGCGGTGGGGTCCTCGGTCTCCCTCGTGTGAGCCGACGTCGG AGAGTAGCGGTGGGGTCCTCGGTCTCCCTCGTGTGAGCCGACGTCGGAGA GTAGCGGTGGGGTCCTCGGTCTCCCTCGTGTGAGCCGACGTCGGAGAGTA GCGGTGGGGTCCTCGGTCTCCCTCGTGTGAGCCGACGTCGGAGAGTAGCG GTGGGGTCCTCGGTCTCCCTCGTGTGAGCCGACGTCGGAGAGTAGCGGTG GGGTCCTCGGTCTCCCTCGTGTGAGCCGACGTCGGAGAGTAGCGGTGGGG TCCTCGGTCTCCCTCGTGTGAGCCGACGTCGGAGAGTAGCGGTGGGGTCC TCGGTCTCCCTCGTGTGAGCCGACGTCGGAGAGTAGCGGTGGGGTCCTCG GTCTCCCTCGTGTGAGCCGACGTCGGAGAGTAGCGGTGGGGTCCTCGGTC TCCCTCGTGTGAGCCGACGTCGGAGAGTAGCGGTGGGGTCCTCGGTCTCC CTC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01433.hp1 HG01109.hp2 HG01433.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0223 a0001c0002t0004g0224 a0001c0002t0004g0223 a0001c0002t0004g0224	2	268	0.0075	752	c.474 others(769): Show c.474-1653_474-1652insCAGCGGTGGGGTCCTCGGTCTCCCTCGT GTGAGCCGACATCGGAGAGTAGCGGTGGGGTCCTCGGTCTCCCTCGTGTG AGCCGACGTCGGAGAGTAGCGGTGGGGTCCTCGGTCTCCCTCGTGTGAGC CGACGTCGGAGAGTAGCGGTGGGGTCCTCGGTCTCCCTCGTGTGAGCCGA CGTCGGAGAGTAGCGGTGGGGTCCTCGGTCTCCCTCGTGTGAGCCGACGT CGGAGAGTAGCGGTGGGGTCCTCGGTCTCCCTCGTGTGAGCCGACGTCGG AGAGTAGCGGTGGGGTCCTCGGTCTCCCTCGTGTGAGCCGACGTCGGAGA GTAGCGGTGGGGTCCTCGGTCTCCCTCGTGTGAGCCGACGTCGGAGAGTA GCGGTGGGGTCCTCGGTCTCCCTCGTGTGAGCCGACGTCGGAGAGTAGCG GTGGGGTCCTCGGTCTCCCTCGTGTGAGCCGACGTCGGAGAGTAGCGGTG GGGTCCTCGGTCTCCCTCGTGTGAGCCGACGTCGGAGAGTAGCGGTGGGG TCCTCGGTCTCCCTCGTGTGAGCCGACGTCGGAGAGTAGCGGTGGGGTCC TCGGTCTCCCTCGTGTGAGCCGACGTCGGAGAGTAGCGGTGGGGTCCTCG GTCTCCCTCGTGTGAGCCGACGTCGGAGAGTAGCGGTGGGGTCCTCGGTC TCCCTCGTGTGAGCCGACGTCGGAGAGTAGCGGTGGGGTCCTCGGTCTCC CTCGTGTGAGCCGACGTCGGAGAG	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr11	TogoVar

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