Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
MTTP_chr4_99569824_99628997	99589035	A A	ATATATAT others(653): Show ATATATATATGTTCATATATATTCATATATATGTTCATATATATATTCAT ATATATGTTCATATATATTCATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATGTTCATATATATATTCATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATGT TCATATATATATGTTCATATATATGTTCATATATATGTTCATATATATAT GTTCATATATATGTTCATATATATATGTTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATT	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA19060.hp2 HG00609.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0241 a0001c0001t0001g0232 a0001c0001t0001g0241	2	166	0.0120	660	c.394 others(675): Show c.394-608_394-607insTATATATATGTTCATATATATTCATATATA TGTTCATATATATATTCATATATATGTTCATATATATTCATATATATGTT CATATATATATTCATATATATATGTTCATATATATATTCATATATATGTT CATATATATATTCATATATATGTTCATATATATATTCATATATATATGTT CATATATATATTCATATATATATGTTCATATATATATTCATATATATATG TTCATATATATATTCATATATATATGTTCATATATATATTCATATATATA TGTTCATATATATATTCATATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATA TATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTCATA TATATGTTCATATATATATGTTCATATATATGTTCATATATATATGTTCA TATATATATGTTCATATATATATTCATATATATATGTTCATATATATATT CATATATATATGTTCATATATATATTCATATATATATGTTCATATATATA TTCATATATATATGTTCATATATATATTCATATATATATGTTCATATATA TATTCATATATATATGTTCATATATATATT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MUC4_chr3_195741771_195816929	195776144	G G	GTCATACC others(653): Show GTCATACCTTCCACAGTCATACCTTCCACAGTCATACCTTCCACACCCAT ACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACAGTCATACCTT CCACACCCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTCCGCA CCCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTCCGCACCCAT ACCTTCCGCACCCATACCTTCCGCACCCATACCTTCCACAGTCATACCTT CCACACCCATACCTTCCACAGTCATACCTTCCACAGTCATACCTTCCGCA CCCATACCTTCCACAGTCATACCTTCCGCACCCATACCTTCCACACCCAT ACCTTCCACACCCATACCTTCCGCACCCATACCTTCCGCACCCATACCTT CCGCACCCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTCCACA GTCATACCTTCCACACCCATACCTTCCACAGTCATACCTTCCACAGTCAT ACCTTCCGCACCCATACCTTCCACAGTCATACCTTCCGCACCCATACCTT CCACAGTCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTCCGCA CCCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACAGTCAT ACCTTCCACAC	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0057 a0057	a0057c0129 a0057c0129	a0057c0129t0002 a0057c0129t0002	a0057c0129t0002g0007 a0057c0129t0002g0007	1	96	0.0104	660	c.129 others(681): Show c.12944-1840_12944-1839insGTGTGGAAGGTATGACTGTGGAAG GTATGGGTGTGGAAGGTATGACTGTGGAAGGTATGGGTGCGGAAGGTATG GGTGCGGAAGGTATGGGTGCGGAAGGTATGACTGTGGAAGGTATGGGTGC GGAAGGTATGACTGTGGAAGGTATGGGTGCGGAAGGTATGACTGTGGAAG GTATGACTGTGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGGTATG GGTGCGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTATGGGTGC GGAAGGTATGGGTGCGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAG GTATGGGTGCGGAAGGTATGACTGTGGAAGGTATGGGTGCGGAAGGTATG ACTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTATGACTGT GGAAGGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGAAG GTATGGGTGCGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTATG GGTGCGGAAGGTATGGGTGCGGAAGGTATGGGTGTGGAAGGTATGACTGT GGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAG GTATGACTGTGGAAGGTATGACTGTGGAAGGTATGA	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195777526	C C	CATACCTT others(653): Show CATACCTTCCACACCCATACCTTCCACGGCCATACCTTCCACACCCTTAC CTTCCACACCCATACCTTCCACACCCATACCTTCCACGGCCATACCTTCC ACACCCATACCTTCCACGGCCATACCTTCCACACCCTTACCTTCCACACC CATACCTTCCACACCCATACCTTCCACGGCCATACCTTCCACACCCATAC CTTCCACGGCCATACCTTCCACACCCTTACCTTCCACACCCATACCTTCC ACACCCATACCTTCCACGGCCATACCTTCCACACCCATACCTTCCACACC CATACCTTCCACACGCATACCTTCCACACCCATACCTTCCACGGCCATAC CTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCC ACACCCATACCTTCCACGGCCATACCTTCCACACCCATACCTTCCACGGC CATACCTTCCACACCCATACCTTCCACACCCTTACCTTCCACACCCATAC CTTCCACACCCATACCTTCCACACCCATACCTTCCACGGCCATACCTTCC ACACCCATGCCTTCCACACCCATACCTTCCACAGTCATACCTTCCACACC CATACCTTCCACACCCATACCTTCCACATCCATACCTTCCACGCCCATAC CTTCCACAGTG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0081 a0081	a0081c0158 a0081c0158	a0081c0158t0009 a0081c0158t0009	a0081c0158t0009g0244 a0081c0158t0009g0244	1	248	0.0040	660	c.129 others(679): Show c.12943+776_12943+777insCACTGTGGAAGGTATGGGCGTGGAAG GTATGGATGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATG ACTGTGGAAGGTATGGGTGTGGAAGGCATGGGTGTGGAAGGTATGGCCGT GGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAG GTAAGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGCCGTGGAAGGTATG GGTGTGGAAGGTATGGCCGTGGAAGGTATGGGTGTGGAAGGTATGGGTGT GGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGCCGTGGAAG GTATGGGTGTGGAAGGTATGCGTGTGGAAGGTATGGGTGTGGAAGGTATG GGTGTGGAAGGTATGGCCGTGGAAGGTATGGGTGTGGAAGGTATGGGTGT GGAAGGTAAGGGTGTGGAAGGTATGGCCGTGGAAGGTATGGGTGTGGAAG GTATGGCCGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTAAG GGTGTGGAAGGTATGGCCGTGGAAGGTATGGGTGTGGAAGGTATGGCCGT GGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTAAGGGTGTGGAAG GTATGGCCGTGGAAGGTATGGGTGTGGAAGGTAT	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(653): Show AATATATATATTTAAATATAAGTATATATAAATATATATATTTCAAAATA AGTATATATAAATATATATATTTCAATATAAGTATATATAAATATATATA TTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATGTATA TAAATATATATATTTCAATATAAGTATGTATATAAATATACATATTTCAA TATAAGTATGTATATAAATATACATATTTCAATATAAGTATATAAAAATA TATATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAG TATATATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATA TATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATG TATAAATATATATATTTCAATATAAGTATGTATAAATATATATATTTCAA TATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAAAAA TATATATATTTCAATATAAGTATGTATAAAAATATATATATTTAAATATA AGTATGTATAAAAATATATATATTTAAATATAAGTATATATAAAAATATA TATATTTAAATATGTATATATAAAAATATATATATTTAAATATAAGTATA TATATAAAAAT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0097 a0001c0014t0002g0097	1	156	0.0064	660	c.358 others(677): Show c.358+3191_358+3192insATTTAAATATAAGTATATATAAATATAT ATATTTCAAAATAAGTATATATAAATATATATATTTCAATATAAGTATAT ATAAATATATATATTTCAATATAAGTATATATAAATATATATATTTCAAT ATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAAT ATACATATTTCAATATAAGTATGTATATAAATATACATATTTCAATATAA GTATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATAT ATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTATGT ATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTT CAATATAAGTATGTATAAATATATATATTTCAATATAAGTATGTATAAAT ATATATATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAA GTATGTATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATAT ATATTTAAATATAAGTATGTATAAAAATATATATATTTAAATATAAGTAT ATATAAAAATATATATATTTAAATATGTATATATAAAAATATATATATTT AAATATAAGTATATATATAAAAATATATATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(653): Show AATATATATATTTAAATATAAGTATATATAAATATATATATTTCAATATA AGTATATATAAATATATATATTTCAATATAAGTATATATAAATATATATA TTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATGTATA TAAATATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAA TATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAA TATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATA AGTATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATA TATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATG TATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATT TCAATATAAGTATGTATAAATATATATATTTCAATATAAGTATGTATAAA TATATATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATA AGTATATATAAAAATATATATATTTAAATATAAGTATATATAAAAATATA TATATTTAAATATAAGTATATATAAAAATATATATATTTAAATATAAGTA TATATAAAAAT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 NA18985.hp1 HG01168.hp2 HG01169.hp2 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0054 a0001c0001t0016g0186 a0001c0001t0016g0187 a0001c0001t0001g0054 a0001c0001t0016g0186 a0001c0001t0016g0187	3	158	0.0190	660	c.358 others(677): Show c.358+3191_358+3192insATTTAAATATAAGTATATATAAATATAT ATATTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATAT ATAAATATATATATTTCAATATAAGTATATATAAATATATATATTTCAAT ATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAAT ATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAA GTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAATATAT ATATTTCAATATAAGTATATAAAAATATATATATTTCAATATAAGTATAT ATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTT CAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAA AAATATATATATTTCAATATAAGTATGTATAAATATATATATTTCAATAT AAGTATGTATAAATATATATATTTCAATATAAGTATATATAAAAATATAT ATATTTCAATATAAGTATATATAAAAATATATATATTTAAATATAAGTAT ATATAAAAATATATATATTTAAATATAAGTATATATAAAAATATATATAT TTAAATATAAGTATATATAAAAATATATATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(653): Show AATATATATATTTAAATATAAGTATATATAAATATATATATTTCAATATA AGTATATATAAATATATATATTTCAATATAAGTATATATAAATATATATA TTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATGTATA TAAATATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAA TATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAA TATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATA AGTATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATA TATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATG TATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATT TCAATATAAGTATGTATAAATATATATATTTCAATATAAGTATGTATAAA TATATATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATA AGTATATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATA TATATTTAAATATAAGTATATATAAAAATATATATATTTAAATATAAGTA TATATAAAAAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01074.hp1 HG02735.hp2 others(5): Show HG00639.hp1 HG01074.hp1 HG02735.hp2 NA18948.hp1 NA18957.hp1 NA18970.hp1 NA18975.hp2 NA18981.hp1	a0001 a0004 a0010 a0001 a0004 a0010	a0001c0001 a0004c0007 a0010c0025 a0001c0001 a0004c0007 a0010c0025	a0001c0001t0001 a0001c0001t0003 a0004c0007t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0004c0007t0004 a0010c0025t0004	a0001c0001t0001g0058 a0001c0001t0003g0018 a0001c0001t0003g0053 others(5): Show a0001c0001t0001g0058 a0001c0001t0003g0018 a0001c0001t0003g0053 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0188 a0004c0007t0004g0052 a0010c0025t0004g0093	8	163	0.0491	660	c.358 others(677): Show c.358+3191_358+3192insATTTAAATATAAGTATATATAAATATAT ATATTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATAT ATAAATATATATATTTCAATATAAGTATATATAAATATATATATTTCAAT ATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAAT ATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAA GTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAATATAT ATATTTCAATATAAGTATATAAAAATATATATATTTCAATATAAGTATAT ATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTT CAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAA AAATATATATATTTCAATATAAGTATGTATAAATATATATATTTCAATAT AAGTATGTATAAATATATATATTTCAATATAAGTATATATAAAAATATAT ATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTAT ATATAAAAATATATATATTTAAATATAAGTATATATAAAAATATATATAT TTAAATATAAGTATATATAAAAATATATATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(653): Show AATATATATATTTAAATATAAGTATATATAAATATATATATTTCAATATA AGTATATATAAATATATATATTTCAATATAAGTATATATAAATATATATA TTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATGTATA TAAATATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAA TATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAA TATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATA AGTATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATA TATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATG TATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATT TCAATATAAGTATGTATAAATATATATATTTCAATATAAGTATGTATAAA TATATATATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATA AGTATATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATA TATATTTAAATATAAGTATATATAAAAATATATATATTTAAATATAAGTA TATATAAAAAT	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA19060.hp1 NA18988.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0055 a0001c0001t0003g0059 a0001c0001t0003g0055 a0001c0001t0003g0059	2	157	0.0127	660	c.358 others(677): Show c.358+3191_358+3192insATTTAAATATAAGTATATATAAATATAT ATATTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATAT ATAAATATATATATTTCAATATAAGTATATATAAATATATATATTTCAAT ATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAAT ATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAA GTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAATATAT ATATTTCAATATAAGTATATAAAAATATATATATTTCAATATAAGTATAT ATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTT CAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAA AAATATATATATTTCAATATAAGTATGTATAAATATATATATTTCAATAT AAGTATGTATAAATATATATATTTCAATATAAGTATGTATAAAAATATAT ATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTAT ATATAAAAATATATATATTTAAATATAAGTATATATAAAAATATATATAT TTAAATATAAGTATATATAAAAATATATATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(653): Show AATATATATATTTAAATATAAGTATATATAAATATATATATTTCAATATA AGTATATATAAATATATATATTTCAATATAAGTATATATAAATATATATA TTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATGTATA TAAATATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAA TATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAA TATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATA AGTATGTATATAAATATATATATTTCAATATAAGTATATAAAAATATATA TATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATG TATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATT TCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATA AATATATATATTTCAATATAAGTATGTATAAATATATATATTTCAATATA AGTATATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATA TATATTTAAATATAAGTATATATAAAAATATATATATTTAAATATAAGTA TATATAAAAAT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0008 a0005c0005t0008	a0005c0005t0008g0119 a0005c0005t0008g0119	1	156	0.0064	660	c.358 others(677): Show c.358+3191_358+3192insATTTAAATATAAGTATATATAAATATAT ATATTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATAT ATAAATATATATATTTCAATATAAGTATATATAAATATATATATTTCAAT ATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAAT ATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAA GTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAATATAT ATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAAGTAT ATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTT CAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAA AAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTTCAAT ATAAGTATGTATAAATATATATATTTCAATATAAGTATGTATAAATATAT ATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTAT ATATAAAAATATATATATTTAAATATAAGTATATATAAAAATATATATAT TTAAATATAAGTATATATAAAAATATATATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(653): Show AATATATATATTTCAATATAAGTATATATAAATATATATATTTCAATATA AGTATATATAAATATATATATTTCAATATAAGTATATATAAATATATATA TTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATGTATA TAAATATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAA TATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAA TATATATATTTCAATATAAGTATATAAAAATATATATATTTCAATATAAG TATATATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATA TATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATG TATAAATATATATATTTCAATATAAGTATGTATAAATATATATATTTCAA TATAAGTATATATAAAAATATATATATTTCAATATAAGTATATATAAAAA TATATATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATA AGTATATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATA TATATTTAAATATAAGTATATATAAAAATATATATATTTAAATATAAGTA TATATAAAAAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01074.hp2 HG00738.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0029 a0001c0001t0010g0034 a0001c0001t0010g0029 a0001c0001t0010g0034	2	157	0.0127	660	c.358 others(677): Show c.358+3191_358+3192insATTTCAATATAAGTATATATAAATATAT ATATTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATAT ATAAATATATATATTTCAATATAAGTATATATAAATATATATATTTCAAT ATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAAT ATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAA GTATGTATATAAATATATATATTTCAATATAAGTATATAAAAATATATAT ATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTATGT ATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTT CAATATAAGTATGTATAAATATATATATTTCAATATAAGTATGTATAAAT ATATATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAA GTATATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATAT ATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTAT ATATAAAAATATATATATTTAAATATAAGTATATATAAAAATATATATAT TTAAATATAAGTATATATAAAAATATATATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(653): Show AATATATATATTTCAATATAAGTATATATAAATATATATATTTCAATATA AGTATATATAAATATATATATTTCAATATAAGTATATATAAATATATATA TTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATGTATA TAAATATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAA TATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAA TATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATA AGTATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATA TATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATG TATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATT TCAATATAAGTATGTATAAATATATATATTTCAATATAAGTATGTATAAA TATATATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATA AGTATATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATA TATATTTAAATATAAGTATATATAAAAATATATATATTTAAATATAAGTA TATATAAAAAT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG03942.hp1 HG02300.hp1 HG03942.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0002 a0005c0005t0008 a0001c0001t0002 a0005c0005t0008	a0001c0001t0002g0189 a0005c0005t0008g0118 a0001c0001t0002g0189 a0005c0005t0008g0118	2	157	0.0127	660	c.358 others(677): Show c.358+3191_358+3192insATTTCAATATAAGTATATATAAATATAT ATATTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATAT ATAAATATATATATTTCAATATAAGTATATATAAATATATATATTTCAAT ATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAAT ATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAA GTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAATATAT ATATTTCAATATAAGTATATAAAAATATATATATTTCAATATAAGTATAT ATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTT CAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAA AAATATATATATTTCAATATAAGTATGTATAAATATATATATTTCAATAT AAGTATGTATAAATATATATATTTCAATATAAGTATATATAAAAATATAT ATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTAT ATATAAAAATATATATATTTAAATATAAGTATATATAAAAATATATATAT TTAAATATAAGTATATATAAAAATATATATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MYL2_chr12_110905845_110925579	110905890	A A	AATATTAT others(653): Show AATATTATATATAATATATATTATATTATATATAATATATATTATATATA ATATATATTATATAAAATATATATTATATTATATATAATATATATTATAT AAAATATATATTATATATAATATATATTATATAAAATATATATTATATTA TATAATATATATTATATAAAATATATATTATATTATATAATATATATTAT ATAAAATATATATTATATTATATATAATATATATTATAATATAATATATA TTATATATAATATATATTATATATAATATAATATATATTTTATAAAATAT ATATTATATATAATATAATATATATTTTATATAATATATATTATATATAA TATAATATATATTTTATATAATATATATTATATAATATAATATATATTTT ATATAATATATATTATATATAATATAATATATATTTTATAAAATATATAT TTTATATAATATATATTATATAATATAATATATATTTTATATAATATATA TTATATATAATATATATTTTATATAATATATATTATATAATATAATATAT ATTATTATATAATATATTATTATAATATATAATATATATTATATTATATA ATATATAATATAATAATATAATATATATTTTATAAAATATATATTATATT ATATATAATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0065 a0001c0002t0001g0065	1	358	0.0028	660	c.51 others(671): Show c.5186_*5187insATATTATATATAATATAATATATATTTTATAAAA TATATATTATATTATTATATTATATATTATATAATATAATATATATTATA TATTATAATAATATATTATATAATAATATATATTATATTATATAATATAT ATTATATAAAATATATATTATATATAATATATATTATATAAAATATATAT TATATTATATAATATATATTATATAAAATATATATTTTATAAAATATATA TTATATTATATATAATATATATTATATAAAATATATATTATATTATATAA TATATATTATATAAAATATATATTATATTATATATAATATATATTATATA AAATATATATTATATTATATATAATATATATTTTATAAAATATATATTAT ATTATATATAATATATATTATATATAATATATATTATATTATAATATATA TTATATATAATATAATATATATTTTATATAATATATATTATATAATATAA TATATATTTTATATAATATATATTATATAATATAATATATATTTTATATA ATATATATTATATATAATATATATTTTATATAATATATATTATATATAAT ATAATATATATTTTATATAATATATATTATATATAATATATATTATATAT AATATAATATATATTATATATAATAT	MYL2	ENSG00000111245.17	transcript	ENST00000228841.15	protein_coding		4954		chr12	TogoVar
MYO1F_chr19_8515778_8582442	8543882	G G	GTGGTGGT others(653): Show GTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGCTGGTGGTG CTGGTGGTGCTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGGTGCTGGTGG TGGTGCTGGTGGTGGTGGTGGTGCTGGTGGTGCTGGTGGTGCTGGTGGTG GTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GCTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGCTGGTGGTGCTG GTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGCT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGCTGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGCTGGTGGT GCTGGTGGTGC	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0086 a0001c0001t0003g0086	1	334	0.0030	660	c.152 others(677): Show c.1524+414_1524+415insGCACCACCAGCACCACCAGCACCACCAC CACCACCAGCACCACCACCACCACCACCACCACCACCACCACCAGCACCA CCACCACCACCACCACCACCACCACCACCACCACCACCAGCACCACCACC ACCACCACCACCACCACCACCACCACCACCACCAGCACCACCACCACCAC CACCACCACCACCACCACCACCACCAGCACCACCAGCACCACCAGCACCA CCACCACCACCAGCACCACCACCACCACCACCACCACCACCACCACCAGC ACCACCACCACCACCACCACCACCACCACCAGCACCACCACCACCACCAC CACCACCACCACCACCACCACCACCAGCACCACCACCACCAGCACCACCA GCACCACCAGCACCACCACCACCACCAGCACCACCACCAGCACCACCACC ACCACCACCAGCACCACCACCACCACCACCACCACCACCACCACCACCAC CACCACCAGCACCACCACCACCAGCACCACCAGCACCACCAGCACCACCA CCACCACCAGCACCACCACCACCACCACCACCACCACCACCACCAGCACC ACCACCACCACCACCACCACCACCACCAGCACCACCACCACCACCACCAC CACCACCACCACCACCACCACCAGCACCACCA	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27			chr19	TogoVar
NEDD4L_chr18_58039226_58406539	58209261	T T	TCCTCCTC others(653): Show TCCTCCTCGTCCTCTACCTCCTCCTCCTCCACCACCTCCATCTGCTCCTC CTCCTCCCCCTCCACCTCCCCCTCCGCCTCCTCCTCCCTCTCCTCCTCCC CCTCCACCTCCACCTCTTCCTCCCCACCTCCTCCCCCACCCCCTCCTTCT CAACCTCCTCCTCCACCTCCTCCTCGTCCTCCACCTCCATCTCCTCTCCA TCCTCCTCCTCCACCTCCACCTCCTCCTCCCTCTCCTCCTCCTCCCCCTC CTCCTCGTCCTCTACCTCCTCCTCCTCCACCACCTCCATCTGCTCCTCCT CCTCCCCCTCCACCTCCCCCTCCGCCTCCTCCTCCCTCTCCTCCTCCCCC TCCACCTCCACCTCTTCCTCCCCACCTCCTCCCCCACCCCCTCCTTCTCA ACCTCCGCCTCCCCTTCCTCCTCATCATCCTCCACCTCCACCTCCCCCTG TTCCTCCTCCTCCTCCTCCACCTCCACCCCCTCCTCCTCATCCTCCACCC CCTCCTCCTCCTCCACCTCCAACTCCACCTCCTCATCCTGCACCTCCACG TCCTCCTCCCCCTCCACCTCCTCCTCCACCTGCACCTCCTCAACCTCCTC CTCCTCCTCCACCTCCCCCTCCTCCCCCTCCTCCTTAACCTCCACCTCCA CCTCCTCCTCC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02083.hp2 HG03834.hp1 others(2): Show HG02040.hp1 HG02083.hp2 HG03834.hp1 NA18951.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0028 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0028 a0001c0001t0039	a0001c0001t0001g0016 a0001c0001t0001g0065 a0001c0001t0002g0075 others(2): Show a0001c0001t0001g0016 a0001c0001t0001g0065 a0001c0001t0002g0075 a0001c0001t0028g0042 a0001c0001t0039g0076	5	60	0.0833	660	c.123 others(679): Show c.123-36166_123-36165insCCTCCTCGTCCTCTACCTCCTCCTCC TCCACCACCTCCATCTGCTCCTCCTCCTCCCCCTCCACCTCCCCCTCCGC CTCCTCCTCCCTCTCCTCCTCCCCCTCCACCTCCACCTCTTCCTCCCCAC CTCCTCCCCCACCCCCTCCTTCTCAACCTCCTCCTCCACCTCCTCCTCGT CCTCCACCTCCATCTCCTCTCCATCCTCCTCCTCCACCTCCACCTCCTCC TCCCTCTCCTCCTCCTCCCCCTCCTCCTCGTCCTCTACCTCCTCCTCCTC CACCACCTCCATCTGCTCCTCCTCCTCCCCCTCCACCTCCCCCTCCGCCT CCTCCTCCCTCTCCTCCTCCCCCTCCACCTCCACCTCTTCCTCCCCACCT CCTCCCCCACCCCCTCCTTCTCAACCTCCGCCTCCCCTTCCTCCTCATCA TCCTCCACCTCCACCTCCCCCTGTTCCTCCTCCTCCTCCTCCACCTCCAC CCCCTCCTCCTCATCCTCCACCCCCTCCTCCTCCTCCACCTCCAACTCCA CCTCCTCATCCTGCACCTCCACGTCCTCCTCCCCCTCCACCTCCTCCTCC ACCTGCACCTCCTCAACCTCCTCCTCCTCCTCCACCTCCCCCTCCTCCCC CTCCTCCTTAACCTCCACCTCCACCTCCTCCTCC	NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	2/30			chr18	TogoVar
NLRP4_chr19_55831540_55886855	55850164	A A	AATTTCCG others(653): Show AATTTCCGAGACTGCGGTGTAATTTCCGTAGCTGTGGTGTGATTTCCGAG ACTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTCCGTAGCTGCGGTGT GATTTCCGTAGCTGCGGTGTGATTTCCGAGACTGCGGTGGAATTTCCGAG ACTGCGGTGGAATTTCCGAGACTGCGGTGGAATTTCCGAGACTGCGGTGT AATTTCCGTGGCTGCGGTGTAATTTCCGTGGCTGCGGTGTGATTTCCGTG GCTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGT GATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAG ACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGT GATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAG ACTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTCCGTAGCTGCGGTGT GATTTCCGTAGCTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTCCGTA GCTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGT GATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGGGATTTCCGTG ACTGCGGTGTG	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0374 a0002c0003t0008g0374	1	375	0.0027	660	c.-65 others(677): Show c.-65-1845_-65-1844insAGACTGCGGTGTAATTTCCGTAGCTGTG GTGTGATTTCCGAGACTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTC CGTAGCTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTCCGAGACTGCG GTGGAATTTCCGAGACTGCGGTGGAATTTCCGAGACTGCGGTGGAATTTC CGAGACTGCGGTGTAATTTCCGTGGCTGCGGTGTAATTTCCGTGGCTGCG GTGTGATTTCCGTGGCTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTC CGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCG GTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTC CGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCG GTGTGATTTCCGAGACTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTC CGTAGCTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTCCGTAGCTGCG GTGTGATTTCCGTAGCTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTC CGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCG GTGGGATTTCCGTGACTGCGGTGTGATTTCCG	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NOC4L_chr12_132139457_132157468	132149710	C C	CACCACAC others(653): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCATACCACACCCCT AATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGC CTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACT CCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACC ACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCCTACCACACCC CTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCCTACCACACCCCTAATC CCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCGCTCAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	230	0.0043	660	c.901 others(675): Show c.901+844_901+845insCGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCATACCACACCCCTAATCCCCTCG GTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCCTA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAA TCCCCTCGGTGAGTGCGGCCGCCTCACTCCTACCACACCCCTAATCCCCT CGGTGAGTGCGGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGA GTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCG CCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCT CGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCA TACCACACCCCTAATCCCCTCGGTGAGTGC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150672	A A	ACACCACA others(653): Show ACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCC CCTCGGTGAGTGCCACCGCCTCACTCCTACCACACCCCTAATCCCCTCGG TGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCAC TCACACCACACCCCTAATCCCCTCGGTGAGTGCCACCGCCTCACTCCTAC CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACC CCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAAT CCCCTCGGTGAGTGCGGCCGCCTCACTCCTACCACACCCCTAATCCCCTC GGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAG TGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCACTCC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	236	0.0042	660	c.902 others(675): Show c.902-309_902-308insCACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT CACACCACACCCCTAATCCCCTCGGTGAGTGCCACCGCCTCACTCCTACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGT GCCACCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCCTA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCACTCC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14			chr12	TogoVar
NR3C2_chr4_148073764_148447414	148366424	G G	GAAAAAGA others(653): Show GAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAA AAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAAT ACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTT AAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAA AAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAAT ACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTT AAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAA AAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAAT ACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTT AAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAA AAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAAT ACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTT AAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAA AAGTACTTTTA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03195.hp1 HG02922.hp2 HG03195.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0002 a0002c0002t0002 a0001c0003t0002 a0002c0002t0002	a0001c0003t0002g0005 a0002c0002t0002g0025 a0001c0003t0002g0005 a0002c0002t0002g0025	2	142	0.0141	660	c.175 others(681): Show c.1757+68679_1757+68680insTAAAAGTACTTTTTAAAAAGTATT CTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTT AAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAA AGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATT CTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTT AAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAA AGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATT CTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTT AAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAA AGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATT CTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTT AAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAA AGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATT CTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTT	NR3C2	ENSG00000151623.15	transcript	ENST00000358102.8	protein_coding	2/8			chr4	TogoVar
NR3C2_chr4_148073764_148447414	148366441	T T	TAAAAGTA others(653): Show TAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAG AATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACT TTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTT AAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAG AATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACT TTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTT AAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAG AATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACT TTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTT AAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAG AATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACT TTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTT AAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAG AATACTTTTTA	intron_variant intron_variant	MODIFIER	HG01358.hp2 NA20300.hp2 HG01358.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0020 a0001c0001t0007g0151 a0001c0001t0002g0020 a0001c0001t0007g0151	2	9	0.2222	660	c.175 others(681): Show c.1757+68662_1757+68663insTAAAAAGTATTCTTTTTTAAAAGT ACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTT TTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAA AAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGT ACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTT TTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAA AAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGT ACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTT TTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAA AAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGT ACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTT TTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAA AAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGT ACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTT	NR3C2	ENSG00000151623.15	transcript	ENST00000358102.8	protein_coding	2/8			chr4	TogoVar
NTM_chr11_131365615_132341822	131680400	C C	CGTCTGTG others(653): Show CGTCTGTGTAGGCATGTGTGCCTCTGTGTCTGTGTGTGAGATCATGCCTG TGTCTGTGTCTGTGAGTGCCTGTGTGTGTGTGTGCGTCTGTGTAGGCATG TGTGCCTCTGTGTCTGTGTGTGAGATCATGCCTGTGTCTGTGTCTGTAAG TGCCTGTGTGTGTGTCTGTGTAGGCATGCATGCCTCTGTGTCTGTGTGTG AGATCATGCCCGTGTCTGTGTCTGTGAGTGCCTCTGTGTGTGTGTGTGGG TCTGTGTAGGCATGTGTGCCTCTGTGTCTGTGTGTGAGATCATGCCTGTG TCTGTGTCTGTGAGTGCCTGTGTGTGTGTGCGCTTCTGTGTAGGCATGTG TGCCTCTGTGTCTGTGTGTGAGATCGTGTCTGTGTCTGTGAGTGCCTGTG TGTGTGTGTGCGTCTGTGTAGGCATGTGTGCCTCTGTGTCTGTGTGTGAG ATCGTGTCTGTGTCTGTGAGTGCCTGTGTGTGTGTGTGCGTCTGTGTAGG CATGTGTGCCTCTGTGTCTGTGTGTGAGATCATGCCTGTGTCTGTTTCTG TGAGTGCCTGTGTGTGTGTGTGTGTGTGTGTCTGTGTAGGCATGTGTGCC TCTGTGTCTGTGTGTGAGATCATGCCTGTGTCTGTGTCTGTGAGTGCCTG TGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02055.hp1 HG03516.hp1 HG00642.hp1 HG02055.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0001 a0001c0001t0004 a0001c0001t0008	a0001c0001t0001g0013 a0001c0001t0004g0043 a0001c0001t0008g0070 a0001c0001t0001g0013 a0001c0001t0004g0043 a0001c0001t0008g0070	3	28	0.1071	660	c.83- others(679): Show c.83-231120_83-231119insGCCTGTGTCTGTGTCTGTGAGTGCCT GTGTGTGTGTGTGCGTCTGTGTAGGCATGTGTGCCTCTGTGTCTGTGTGT GAGATCATGCCTGTGTCTGTGTCTGTAAGTGCCTGTGTGTGTGTCTGTGT AGGCATGCATGCCTCTGTGTCTGTGTGTGAGATCATGCCCGTGTCTGTGT CTGTGAGTGCCTCTGTGTGTGTGTGTGGGTCTGTGTAGGCATGTGTGCCT CTGTGTCTGTGTGTGAGATCATGCCTGTGTCTGTGTCTGTGAGTGCCTGT GTGTGTGTGCGCTTCTGTGTAGGCATGTGTGCCTCTGTGTCTGTGTGTGA GATCGTGTCTGTGTCTGTGAGTGCCTGTGTGTGTGTGTGCGTCTGTGTAG GCATGTGTGCCTCTGTGTCTGTGTGTGAGATCGTGTCTGTGTCTGTGAGT GCCTGTGTGTGTGTGTGCGTCTGTGTAGGCATGTGTGCCTCTGTGTCTGT GTGTGAGATCATGCCTGTGTCTGTTTCTGTGAGTGCCTGTGTGTGTGTGT GTGTGTGTGTCTGTGTAGGCATGTGTGCCTCTGTGTCTGTGTGTGAGATC ATGCCTGTGTCTGTGTCTGTGAGTGCCTGTGTGTGTGTGTGTCTGTGTAG GCATGTGTGCCTCTGTGTCTGTGTGTGAGATCAT	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
OR11H4_chr14_20234286_20249349	20237654	A A	ATAGTATA others(653): Show ATAGTATATATAGTATATAGTATATATAGTATATATAGGATATATAGGAT ATATATAATATAGTATATATAGTATATATACTCTATAGTATATATAGTAT ATATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATACT CTATAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGT ATATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTATAGAGTATATATACTATATATACTCTATAGTATATATA GTATATATACTATAGAGTATATATAGTATATATAGTATATATACTCTATA GTATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATA GTATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATA GTATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATA GTATATATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0177 a0001c0003t0001g0177	1	254	0.0039	660	c.-16 others(671): Show c.-1689_-1688insTAGTATATATAGTATATAGTATATATAGTATATA TAGGATATATAGGATATATATAATATAGTATATATAGTATATATACTCTA TAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATA TATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATACTC TATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTATAGAGTATATATACTATATATAC TCTATAGTATATATAGTATATATACTATAGAGTATATATAGTATATATAG TATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAG TATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAG TATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAG TATATATACTCTATAGTATATATAGT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1631		chr14	TogoVar
OR11H4_chr14_20234286_20249349	20237654	A A	ATAGTATA others(653): Show ATAGTATATATAGTATATAGTATATATAGTATATATAGGATATATAGGAT ATATATAATATAGTATATATAGTATATATACTCTATAGTATATATAGTAT ATATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATACT CTATAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGT ATATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATA GTATATATAGTATATATACTCTATAGTATATATAGTATATATACTATAGA GTATATATACTATATATACTCTATAGTATATATAGTATATATACTATAGA GTATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATA TACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATA TACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATA TACTCTATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18976.hp2 NA18983.hp1 NA18984.hp2 NA18976.hp2 NA18983.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	3	256	0.0117	660	c.-16 others(671): Show c.-1689_-1688insTAGTATATATAGTATATAGTATATATAGTATATA TAGGATATATAGGATATATATAATATAGTATATATAGTATATATACTCTA TAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATA TATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATACTC TATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAG TATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAG TATATATACTATAGAGTATATATACTATATATACTCTATAGTATATATAG TATATATACTATAGAGTATATATAGTATATATAGTATATATACTCTATAG TATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAG TATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAG TATATATAGTATATATACTCTATAGT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1631		chr14	TogoVar
OSBPL5_chr11_3082107_3170310	3097061	A A	AAGAGGGG others(653): Show AAGAGGGGGAAGATGGGAAGGGGAGGAGAGGAAGGAGGGGGAAGATGGGA GGAGGAGAAGAGGAAAGGGGGGAAGATGGGAGGAGGAGAGGAAAGGGGGG AAGACGGGAGGAGGAGTGGAAAGAGGGGGAAGACGGGAGGAGGAGGAGAG GAAAGAGGGGGAAGATGGGAGGAGGAGAGGAAAGGGGGGAAGACGGGAGG AGGAGAGGAAAGGGGGGAAGACGGGAGAAGGAGAGGAAAGAGGGGGAAGA CGGGAGGAGGAGGAGAGGAAAGAGGGGGAAGATGGGAGGAGGAGAGGAAA GAGGGGGAAGACGGGAGGAGGAGGAGAGGAAAGAGGGGGAAGATGGGAGG AGGAGAGGAAAGGGGGGAAGACGGGAGGAGGAGAGGAAAGAGGGGGAAGA CGGGAGAAGGAGAGGAAAGAGGGGGAAGACGGGAGGAGGAGGAGAGGAAA GAGGGGGAAGATGGGAGGAGGAGAGGAAAGAGGGGGAAGATGGGAGGAGG AGAGAAAAGAGGGGGAAGATGGGAGGGGGAGGAGAGGAAAGAGGGGGAAG ACGGGAAGAGGAGAGGAAAGAGGGGGAAGACGGGAGGAGGAGGAGAGGAA AGGGGGAAGACGGGAGGAGGAGGACAGGAAAGAGGGGGAAGATGGGAGGA GAAGAGGAAAG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0007 a0001c0002t0009g0007	1	2	0.5000	660	c.162 others(679): Show c.1622-2728_1622-2727insCTTTCCTCTTCTCCTCCCATCTTCCC CCTCTTTCCTGTCCTCCTCCTCCCGTCTTCCCCCTTTCCTCTCCTCCTCC TCCCGTCTTCCCCCTCTTTCCTCTCCTCTTCCCGTCTTCCCCCTCTTTCC TCTCCTCCCCCTCCCATCTTCCCCCTCTTTTCTCTCCTCCTCCCATCTTC CCCCTCTTTCCTCTCCTCCTCCCATCTTCCCCCTCTTTCCTCTCCTCCTC CTCCCGTCTTCCCCCTCTTTCCTCTCCTTCTCCCGTCTTCCCCCTCTTTC CTCTCCTCCTCCCGTCTTCCCCCCTTTCCTCTCCTCCTCCCATCTTCCCC CTCTTTCCTCTCCTCCTCCTCCCGTCTTCCCCCTCTTTCCTCTCCTCCTC CCATCTTCCCCCTCTTTCCTCTCCTCCTCCTCCCGTCTTCCCCCTCTTTC CTCTCCTTCTCCCGTCTTCCCCCCTTTCCTCTCCTCCTCCCGTCTTCCCC CCTTTCCTCTCCTCCTCCCATCTTCCCCCTCTTTCCTCTCCTCCTCCTCC CGTCTTCCCCCTCTTTCCACTCCTCCTCCCGTCTTCCCCCCTTTCCTCTC CTCCTCCCATCTTCCCCCCTTTCCTCTTCTCCTCCTCCCATCTTCCCCCT CCTTCCTCTCCTCCCCTTCCCATCTTCCCCCTCT	OSBPL5	ENSG00000021762.20	transcript	ENST00000263650.12	protein_coding	14/21			chr11	TogoVar
PAK2_chr3_196734857_196837647	196811197	T T	TCCTCCCT others(653): Show TCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTT CCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCC TTCCTTCCCTCCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTC CCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCT TCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCC TTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTT CCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCC TTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTC CTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCCTCCC TTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCCTCCCT CCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTT CCCTCCCTCCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTCC CTTCCCTCCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCC TCCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0174 a0001c0001t0028g0174	1	87	0.0115	660	c.773 others(675): Show c.773+554_773+555insCTCCCTTCCTTCCCTTCCCTACCCTCCCTT CCCTCCCTTCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCC TTCCCTCCCTTCCTTCCCTCCCTTCCTTCCTTCCCTCCCTTCCTTCCCTC CCTTCCTTCCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCT TCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCC TTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCT CCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCC CTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTC CCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCC TCCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCT CCCCTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTC CCTTCCCTTCCCTCCCTCCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTC CCTCCCTCCCTTCCCTCCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCC TTCCTTCCCTCCCTTCCTTCCCTCCCTTCC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PAK2_chr3_196734857_196837647	196811232	T T	TCCCTCCC others(653): Show TCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTCCCTTCCCTCCTTTC CTTCCCTCCCTTCCTTCCCTTCCCTTCCTTCCCTACCCTCCCTTCCCTCC CTCCCTTCCCTTCCTTCCTTCCCTCCTTCCCTTCCTTCCCTCCCTTCCTT CCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCC CTTCCTTCCCTTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTCCC TTCCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCT TCCTTCCCTCCCTTCCTTCCCTCCCTTCCCTCCCTCCCTTCCTTCCCTTC CCTCCCTTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCC CTCCCTCCCTTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCC TTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTCCCCTCCCT CCCTCCCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTC CCTTCCTTCCCTTCCCTCCCTCCCCTCCCTTCCCTCCCTCCCCTCCCTCC CTTCCTTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCC TTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0062 a0001c0001t0006g0062	1	148	0.0068	660	c.773 others(675): Show c.773+583_773+584insCCCTCCCTTCCCTCCCTTCCTTCCCTCCCT CCCTTCCCTCCTTTCCTTCCCTCCCTTCCTTCCCTTCCCTTCCTTCCCTA CCCTCCCTTCCCTCCCTCCCTTCCCTTCCTTCCTTCCCTCCTTCCCTTCC TTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCT CCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTTCCTTCCCTTCCCTCCCTC CCTTCCCTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCC CTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCCTCCCT CCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTTCCTTCCCTC CCTTCCTTCCCTTCCCTCCCTCCCTTCCCTTCCCTCCCTTCCTTCCCTTC CCTCCCTTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCC CTCCCTCCCCTCCCTCCCTCCCTTCCCTTCCCTCCCTTCCCTCCCTTCCC TCCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCCTCCCTTCCCT CCCTCCCCTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTCCCTTC CCTCCCTTCCTTCCCTTCCCTCCCTCCCCT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PCBP3_chr21_45638725_45947450	45923820	C C	CGAGGAGA others(653): Show CGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACG TAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGG GTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACC GGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACGTA AGATCGGGTGTGCGTGAGGAGATGTGAACACTGGGAACAGTCGAGTGGGT AGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGG GAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAG GAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAG ATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGCATGGATAG AAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGA ACAGTCGCGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGA GATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGAT CGGGTGTGCGT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0230 a0001c0001t0002g0230	1	255	0.0039	660	c.718 others(677): Show c.718-6088_718-6087insTGAACACTGGGAACAGTCGCGTGGATAG AAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGA ACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGA GATGTGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGAT CGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAA ACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGTGAACACTGGGAAC AGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGA TGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCG GGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAAC AGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAG TCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATG CGAACACCGGGAACAGTCGCGTGGGTAGAAACAGCACACGTAAGATCGGG TGTGCGTGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAG CACACGTAAGATCGGGTGTGCGTGAGGAGATG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45923820	C C	CGAGGAGA others(653): Show CGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACG TAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGG GTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACT GGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTG AGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTA AGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGAT AGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGG GAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAG GAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAG ATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAG AAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGA ACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGA GATGCGAACACCGGGAACAGTCGCGTGGGTAGAAACAGCACACGTAAGAT CGGGTGTGCGT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0290 a0001c0003t0014g0290	1	255	0.0039	660	c.718 others(677): Show c.718-6088_718-6087insTGAACACTGGGAACAGTCGCGTGGATAG AAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGA ACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGA GATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGAT CGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAA ACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAAC AGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGA TGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCG GGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAAC AGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAG TCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATG CGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGG TGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGGTAGAAACAG CACACGTAAGATCGGGTGTGCGTGAGGAGATG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45923820	C C	CGAGGAGA others(653): Show CGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACG TAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGCGTGG GTAGAAACAGCACACATAAGATCGGGTGTGCACGAGGAGATGTGAACACT GGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTG AGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTA AGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGAT AGAAACAGCACACATAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGG GAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAG GAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAG ATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAG AAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACTGGGA ACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGA GATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGAT CGGGTGTGCGT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0021 a0001c0001t0015g0021	1	255	0.0039	660	c.718 others(677): Show c.718-6088_718-6087insTGAACACTGGGAACAGTCGCGTGGATAG AAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGA ACAGTCGCGTGGGTAGAAACAGCACACATAAGATCGGGTGTGCACGAGGA GATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGAT CGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAA ACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAAC AGTCGCGTGGATAGAAACAGCACACATAAGATCGGGTGTGCGTGAGGAGA TGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCG GGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAAC AGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAG TCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATG CGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGG TGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAG CACACGTAAGATCGGGTGTGCGTGAGGAGATG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45923986	A A	ATAGAAAC others(653): Show ATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACT GGGAACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTG AGGAGATGTGAACACTGGGAACAGTCGAGTGGGTAGAAACAGCACACGTA AGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGT AGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGG GAACAGTCGCGTGGATAGAAACAGCACACGTAAGATTGGGTGTGCACGAG GAGATGTGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACGTAAG ATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAG AAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGA ACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGA GATGTGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACGTAAGAT CGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAA ACAGCACACGTAAGATCGGGTGTGAGTGAGGAGATGCGAACACCGGGAAC AGTCGCGTGGG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	234	0.0043	660	c.718 others(677): Show c.718-5890_718-5889insTGAACACTGGGAACAGTCGCATGGATAG AAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGTGAACACTGGGA ACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGA GATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGAT CGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAA ACAGCACACGTAAGATTGGGTGTGCACGAGGAGATGTGAACACTGGGAAC AGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGA TGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCG GGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAAC AGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAG TCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATG TGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGG TGTGAGTGAGGAGATGCGAACACCGGGAACAGTCGCGTGGGTAGAAACAG CACACGTAAGATCGGGTGTGCACGAGGAGATG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924018	C C	CGAGGAGA others(653): Show CGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACG TAAGATCGGGTGTGCGTGAGGAGATGTGAACACTGGGAACAGTCGAGTGG GTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACC GGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTA AGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGAT AGAAACAGCACACGTAAGATTGGGTGTGCACGAGGAGATGCGAACACCGG GAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAG GAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAG ATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAG AAACAGCACACGTAAGATCGGGTGTGAGTGAGGAGATGCGAACACCGGGA ACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGA GATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGAT CGGGTGTGCGT	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA18906.hp1 HG03471.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0084 a0001c0001t0002g0085	2	169	0.0118	660	c.718 others(677): Show c.718-5890_718-5889insTGAACACTGGGAACAGTCGCATGGATAG AAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGTGAACACTGGGA ACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGA GATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGAT CGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAA ACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAAC AGTCGCGTGGATAGAAACAGCACACGTAAGATTGGGTGTGCACGAGGAGA TGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCG GGTGTGCGTGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAAC AGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAG TCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGAGTGAGGAGATG CGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGG TGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAG CACACGTAAGATCGGGTGTGCGTGAGGAGATG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924084	C C	CGAGGAGA others(653): Show CGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACG TAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGG GTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACT GGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATTGGGTGTGCACG AGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACGTA AGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGT AGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGG GAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAG GAGATGTGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACGTAAG ATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAG AAACAGCACACGTAAGATCGGGTGTGAGTGAGGAGATGCGAACACCGGGA ACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGA GATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGAT CGGGTGTGCGT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0230 a0001c0001t0002g0230	1	273	0.0037	660	c.718 others(677): Show c.718-5824_718-5823insCGAACACCGGGAACAGTCGCGTGGATAG AAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGA ACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGA GATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGAT TGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAA ACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAAC AGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGA TGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCG GGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAAAC AGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAG TCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGAGTGAGGAGATG CGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGG TGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAG CACACGTAAGATCGGGTGTGCGTGAGGAGATG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924118	G G	GTAGAAAC others(653): Show GTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACC GGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGCAAACACTGGGAACAGTCGAGTGGGTAGAAACAGCACACGTA AGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGT AGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGG GAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAG GAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAG ATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAG AAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGA ACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGA GATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGAT CGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAA ACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAAC AGTCGCGTGGA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0290 a0001c0003t0014g0290	1	216	0.0046	660	c.718 others(677): Show c.718-5780_718-5779insATCGGGTGTGCGTGAGGAGATGCGAACA CCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCA CGAGGAGATGCAAACACTGGGAACAGTCGAGTGGGTAGAAACAGCACACG TAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGG GTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACC GGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCGTG AGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTA AGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGAT AGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGG GAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAG GAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAG ATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAG AAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGA ACAGTCGCGTGGATAGAAACAGCACACGTAAG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924167	T T	TGGGAACA others(653): Show TGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGT GAGGAGATGCGAACACCGGGAACAGTCGCGTGGGTAGAAACAGCACACGT AAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGA TAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCG GGAACAGTCGCGTGGGTAGAAACAGCACACGTAAGATCAGGTGTGCGTGA GGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAA GATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATA GAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGG AACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGG AGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGA TCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGA AACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAA CAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAG ATGTGAACACC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0242 a0001c0001t0002g0242	1	167	0.0060	660	c.718 others(677): Show c.718-5734_718-5733insATAGAAACAGCACACGTAAGATCGGGTG TGCGTGAGGAGATGCGAACACCGGGAACAGTCGCGTGGGTAGAAACAGCA CACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGA GTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAA CACCGGGAACAGTCGCGTGGGTAGAAACAGCACACGTAAGATCAGGTGTG CGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACA CGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGT GGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACA CCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCG TGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACG TAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGG ATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACC GGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGTGAACACCGGGAACAGTCGCGTGG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924377	A A	AGTGGGTA others(653): Show AGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGA ACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGT GCGTGAGGAGATGTGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCAC ACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCG TGGATAGAAACAGCACACGTAAGATTGGGTGTGCACGAGGAGATGCGAAC ACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGC GTGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACAC GTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGAGTG GGTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACAC TGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGT GAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGT AAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCACGTGGA TAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGTGAACACTG GGAACAGTCGC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0034 a0001c0001t0003g0034	1	203	0.0049	660	c.718 others(677): Show c.718-5536_718-5535insGTAGAAACAGCACACGTAAGATCGGGTG TGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCA CACGTAAGATCGGGTGTGCGTGAGGAGATGTGAACACCGGGAACAGTCGA GTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAA CACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATTGGGTGTG CACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACA CGTAAGATCGGGTGTGCGTGAGGAGATGTGAACACTGGGAACAGTCGCGT GGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACA CCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCG TGAGGAGATGCGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACG TAAGATCGGGTGTGCGTGAGGAGATGTGAACACTGGGAACAGTCGCGTGG ATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACC GGGAACAGTCACGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTG AGGAGATGTGAACACTGGGAACAGTCGCGTGG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924377	A A	AGTGGGTA others(653): Show AGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGA ACACTGGGAACAGTCGCGTGGGTAGAAACAGCACACGTAAGATCGGGTGT GCGTGAGGAGATGCGAACACCGGGAACAGTCGCGTGGGTAGAAACAGCAC ACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAG TGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAAC ACTGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGC ACGAGGAGATGCGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACAC GTAAGATCGGGTGTGCACGAGGAGATGCGAACACTGGGAACAGTCGCGTG GATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACAC CGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCAC GAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGT AAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGCGTGGA TAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCG GGAACAGTCGC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0226 a0001c0001t0002g0226	1	203	0.0049	660	c.718 others(677): Show c.718-5536_718-5535insGTAGAAACAGCACACGTAAGATCGGGTG TGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGGTAGAAACAGCA CACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGC GTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAA CACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTG CACGAGGAGATGTGAACACTGGGAACAGTCGAGTGGATAGAAACAGCACA CGTAAGATCGGGTGTGCACGAGGAGATGCGAACACTGGGAACAGTCGCGT GGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACA CTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCA CGAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACG TAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGG ATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACC GGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGTGAACACCGGGAACAGTCGCGTGG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924377	A A	AGTGGGTA others(653): Show AGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGA ACACTGGGAACAGTCGCGTGGGTAGAAACAGCACACGTAAGATCGGGTGT GCGTGAGGAGATGCGAACACCGGGAACAGTCGCGTGGGTAGAAACAGCAC ACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAG TGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAAC ACTGGGAACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGC ACGAGGAGATGCGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACAC GTAAGATCGGGTGTGCACGAGGAGATGCGAACACTGGGAACAGTCGCGTG GATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACAC CGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCAC GAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGT AAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGCGTGGA TAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCG GGAACAGTCGC	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0268 a0001c0001t0002g0268	1	203	0.0049	660	c.718 others(677): Show c.718-5536_718-5535insGTAGAAACAGCACACGTAAGATCGGGTG TGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGGTAGAAACAGCA CACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGC GTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAA CACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTG CACGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAAACAGCACA CGTAAGATCGGGTGTGCACGAGGAGATGCGAACACTGGGAACAGTCGCGT GGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACA CTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCA CGAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACG TAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGG ATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACC GGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGTGAACACCGGGAACAGTCGCGTGG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924414	C C	CGAGGAGA others(653): Show CGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACG TAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCATGG ATAGAAACAGCACACGTAAGATCGGGTGTGAGTGAGGAGATGCGAACACC GGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTA AGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGT AGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGG GAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAG GAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAG ATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAG AAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGA ACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGA GATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGAT CGGGTGTGCGT	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0241 a0001c0001t0002g0241	1	269	0.0037	660	c.718 others(677): Show c.718-5494_718-5493insTGAACACTGGGAACAGTCGCATGGATAG AAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGA ACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGAGTGAGGA GATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGAT CGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAA ACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAAC AGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGA TGTGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCG GGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAAC AGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAG TCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATG TGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGG TGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAG CACACGTAAGATCGGGTGTGCGTGAGGAGATG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924480	T T	TGAGGAGA others(653): Show TGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACG TAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGG ATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACC AGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTA AGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGT AGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGG GAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAG GAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAG ATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAG AAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGA ACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGA GATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGAT CGGGTGTGCAC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	219	0.0046	660	c.718 others(677): Show c.718-5404_718-5403insGTAGAAACAGCACACGTAAGATCGGGTG TGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCA CACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCAGGAACAGTCGA GTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAA CACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTG CGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACA CGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGT GGGTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACA CCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCA CGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACG TAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGCGTGG ATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACC GGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGCGAACACCGGGAACAGTCGAGTGG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924497	C C	CGGGAACA others(653): Show CGGGAACAGTCGCGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCGT GAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGT AAGATCGGGTGTGCATGAGGAGATGTGAACACCGGGAACAGTCGCGTGGA TAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTG GGAACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGA GGAGATGCGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAA GATCGGGTGTGCACGAGGAGATGCGAACACTGGGAACAGTCGCGTGGATA GAAACAGCACACGTAAGATCGGGTGTGCATGAGGAGATGTGAACACCGGG AACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGG AGATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGA TCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAGA AACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACTGGGAA CAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAG ATGCGAACACT	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA18906.hp1 HG03471.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0084 a0001c0001t0002g0085	2	245	0.0082	660	c.718 others(677): Show c.718-5409_718-5408insCGTGGGTAGAAACAGCACACGTAAGATC GGGTGTGCGTGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAA CAGCACACGTAAGATCGGGTGTGCATGAGGAGATGTGAACACCGGGAACA GTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGAT GTGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACGTAAGATCGG GTGTGCACGAGGAGATGCGAACACTGGGAACAGTCGCGTGGATAGAAACA GCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACTGGGAACAGT CGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCATGAGGAGATGT GAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGT GTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGC ACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCG CATGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGA ACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGT GCACGAGGAGATGCGAACACTGGGAACAGTCG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924563	C C	CGGGAACA others(653): Show CGGGAACAGTCACGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCAC GAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGT AAGATTGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGA TAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTG GGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATTGGGTGTGCACGA GGAGATGTGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACGTAA GATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTA GAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGG AACAGTCGCGTGGATAGAAACAGCACACGTAAGATTGGGTGTGCACGAGG AGATGTGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACGTAAGA TCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAGA AACAGCACACGTAAGATCGGGTGTGAGTGAGGAGATGCGAACACCGGGAA CAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAG ATGTGAACACT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	272	0.0037	660	c.718 others(677): Show c.718-5344_718-5343insACGTGGATAGAAACAGCACACGTAAGAT CGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAA ACAGCACACGTAAGATTGGGTGTGCACGAGGAGATGCGAACACCGGGAAC AGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGA TGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATTG GGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAAAC AGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAG TCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATG TGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATTGGG TGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAAACAG CACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTC GCATGGATAGAAACAGCACACGTAAGATCGGGTGTGAGTGAGGAGATGCG AACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTG TGCACGAGGAGATGTGAACACTGGGAACAGTC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924754	T T	TGAACACT others(653): Show TGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGG TGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAAACAG CACACGTAAGATCGGGTGTGAGTGAGGAGATGCGAACACCGGGAACAGTC GAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTG AACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTG TGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCA CACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGC GTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAA CACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTG CGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACA CGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGCGT GGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACA CTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCG TGAGGAGATGC	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA18969.hp1 NA19066.hp2 HG00438.hp1 NA18969.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0224 a0001c0001t0002g0236 a0001c0001t0002g0263 a0001c0001t0002g0224 a0001c0001t0002g0236 a0001c0001t0002g0263	3	237	0.0127	660	c.718 others(677): Show c.718-5157_718-5156insTGGGAACAGTCGCATGGATAGAAACAGC ACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCG CATGGATAGAAACAGCACACGTAAGATCGGGTGTGAGTGAGGAGATGCGA ACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGT GCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCAC ACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAG TGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAAC ACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGC ACGAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACAC GTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTG GGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACAC CGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCAC GAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGT AAGATCGGGTGTGCGTGAGGAGATGCGAACAC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924761	C C	CGGGAACA others(653): Show CGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCAC GAGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACGT AAGATCGGGTGTGCACGAGGAGATGCGAACACTGGGAACAGTCGCGTGGA TAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACTG GGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCATGA GGAGATGTGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAA GATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATA GAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGG AACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGG AGATGTGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGA TCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGA AACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAA CAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAG ATGCGAACACT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	236	0.0042	660	c.718 others(677): Show c.718-5150_718-5149insAGTCGAGTGGATAGAAACAGCACACGTA AGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCATGGAT AGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACTGG GAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAG GAGATGCGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAG ATCGGGTGTGCATGAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAG AAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGA ACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGA GATGTGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGAT CGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAGAA ACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAAC AGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGA TGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCG GGTGTGCGTGAGGAGATGCGAACACTGGGAAC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924876	C C	CGAGGAGA others(653): Show CGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACG TAAGGTCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGAGTGG GTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACC GGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGTGAACACTGGGAACAGTCGAGTGGGTAGAAACAGCACACGTA AGATCGGGTGTGCGTGAGGAGATGTGAACACCGGGAACAGTCGCGTGGAT AGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCAG GAACAGTCGCGTGGGTAGAAACAGCACACGTAAGGTCGGGTGTGCGTGAG GAGATGCAAACACTGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAG ATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGGTAG AAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGTGAACACCGGGA ACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGA GATGCAAACACTGGGAACAGTCGCGTGGGTAGAAACAGCACACGTAAGAT CGGGTGTGCGT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0042 a0001c0001t0003g0042	1	261	0.0038	660	c.718 others(677): Show c.718-5032_718-5031insCGAACACCGGGAACAGTCGAGTGGGTAG AAACAGCACACGTAAGGTCGGGTGTGCACGAGGAGATGTGAACACTGGGA ACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGA GATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGAT CGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGAGTGGGTAGAA ACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGTGAACACCGGGAAC AGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGA TGCGAACACCAGGAACAGTCGCGTGGGTAGAAACAGCACACGTAAGGTCG GGTGTGCGTGAGGAGATGCAAACACTGGGAACAGTCGAGTGGATAGAAAC AGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAG TCGCGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATG TGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGG TGTGCGTGAGGAGATGCAAACACTGGGAACAGTCGCGTGGGTAGAAACAG CACACGTAAGATCGGGTGTGCGTGAGGAGATG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924959	C C	CGGGAACA others(653): Show CGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCAC GAGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACGT AAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGA TAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTG GGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGA GGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAA GATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTA GAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGG AACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGG AGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGA TCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGA AACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACTGGGAA CAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAG ATGTGAACACT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0020 a0001c0003t0020	a0001c0003t0020g0223 a0001c0003t0020g0223	1	252	0.0040	660	c.718 others(677): Show c.718-4947_718-4946insCGTGGATAGAAACAGCACACGTAAGATC GGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAAA CAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACA GTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGAT GTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGG GTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACA GCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGT CGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGT GAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGT GTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGC ACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCG AGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGA ACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGT GCACGAGGAGATGTGAACACTGGGAACAGTCG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45925140	T T	TGAGGAGA others(653): Show TGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACG TAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGG GTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACC GGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTA AGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGT AGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGG GAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAG GAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAG ATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAG AAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGA ACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGA GATGCAAACACTGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGGT CGGGTGTGCAC	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0004 a0001c0002t0004g0005 a0001c0002t0004g0004 a0001c0002t0004g0005	2	116	0.0172	660	c.718 others(677): Show c.718-4760_718-4759insGGGAACAGTCGCGTGGATAGAAACAGCA CACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGA GTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAA CACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTG CACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACA CGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGT GGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACA CCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCA CGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACG TAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGG GTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACC GGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGCAAACACTGGGAACAGTCGAGTGGATAGAAACAGCACACGTA AGGTCGGGTGTGCACGAGGAGATGCGAACACC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45925150	C C	CGAACACC others(653): Show CGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGG TGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAG CACACGTAAGGTCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTC GAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCG AACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTG TGCGTGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCA CACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGC GTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAA CACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTG CACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACA CGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGT GGGTAGAAACAGCACACGTAAGGTCGGGTGTGCACGAGGAGATGTGAACA CCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCA CGAGGAGATGT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0025 a0001c0001t0003g0025	1	256	0.0039	660	c.718 others(677): Show c.718-4760_718-4759insGGGAACAGTCGAGTGGGTAGAAACAGCA CACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGA GTGGGTAGAAACAGCACACGTAAGGTCGGGTGTGCACGAGGAGATGTGAA CACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTG CACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACA CGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGCGT GGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACA CCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCG TGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACG TAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGG GTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACC GGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGGTCGGGTGTGCACG AGGAGATGTGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTA AGATCGGGTGTGCACGAGGAGATGTGAACACC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PLCL2_chr3_16879955_17095604	17063256	T T	TCCTCCCT others(653): Show TCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTCCCTCC CTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCT CCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCT TCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCC CTCCCTCCCTTCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCT TCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCT GCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCC CTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCT CCCTGCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCC CTGCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCT CCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCC CTGCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0137	1	140	0.0071	660	c.309 others(679): Show c.3095-4693_3095-4692insCCCTCCCTCCCTCCCTGCCTTCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCT CCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCT CCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCC CTGCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTGCCTCCCT CCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCC CTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCT CCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCC CTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCT CCCTCCCTTCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCT CCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCT	PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PPP2R3B_chrX_328933_391907	364824	A A	AGTGAGCT others(653): Show AGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGA CTCTGTCTCAAAACAAAACAAACGATTAACCAGGTGTGGTGGCGCATGCC TGTAATCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCTTAAACCCG GGAGGCGGAGGGTGCGGTGAGCTGAGATCGCACCACTGCACTCCAGCCTG GGCGACAGAGTGAGACTCTGTCTCAAAACAAAACAAACGATTAACCAGGT GTGGTGGCGCATGCCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGAG AATCGCTTCAACACAGGAGGCGGAGGGTGCGGTGAGCTGAGATCGCACCA CTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAACAAAACA AACGATTAACCAGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGAG AGGCTGAGGCAGGAGAATCGCTTAAACCCGGGAGGCGGAGGGTGCGGTGA GCTGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTG TCTCAAAACAAAACAAACGATTAACCAGGTGTGGTGGCGCATGCCTGTAA TCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCTTAAACCCGGGAGG CGGAGGGTGCG	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0011 a0001c0007t0001g0011	1	17	0.0588	660	c.325 others(677): Show c.325-3235_325-3234insCGCACCCTCCGCCTCCCGGGTTTAAGCG ATTCTCCTGCCTCAGCCTCTCGAGTAGCTGGGATTACAGGCATGCGCCAC CACACCTGGTTAATCGTTTGTTTTGTTTTGAGACAGAGTCTCACTCTGTC ACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACCGCACCCTCCGCC TCCCGGGTTTAAGCGATTCTCCTGCCTCAGCCTCTCGAGTAGCTGGGATT ACAGGCATGCGCCACCACACCTGGTTAATCGTTTGTTTTGTTTTGAGACA GAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTC ACCGCACCCTCCGCCTCCTGTGTTGAAGCGATTCTCCTGCCTCAGCCTCT CAAGTAGCTGGGATTACAGGCATGCGCCACCACACCTGGTTAATCGTTTG TTTTGTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTG GTGCGATCTCAGCTCACCGCACCCTCCGCCTCCCGGGTTTAAGCGATTCT CCTGCCTCAGCCTCTCGAGTAGCTGGGATTACAGGCATGCGCCACCACAC CTGGTTAATCGTTTGTTTTGTTTTGAGACAGAGTCTCACTCTGTCGCCCA GGCTGGAGTGCAGTGGTGCGATCTCAGCTCAC	PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	1/12			chrX	TogoVar
PPP2R3B_chrX_328933_391907	365435	C C	CGAGAGGC others(653): Show CGAGAGGCTGAGGCAGGAGAATCGCTTAAACCCGGGAGGCGGAGGGTGCG GTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGAC TCTGTCTCAAAACAAAACAAACGATTAACCAGGTGTGGTGGCGCATGCCT GTACTCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCTTAAACCCGG GAGGCGGAGGGTGCGGTGAGCTGAGGTCGCACTACTGCACTCCAGCCTGG GCGACAGAGTGAGACTCTGTCTCAAAACAAAACAAACGATTAACCAGGTG TGGTGGCGCATGCCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGAGA ATCGCTTCAACACAGGAGGCGGAGGGTGCGGTGAGCTGAGATCGCACTAC TGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAACAAAACAA ACGATTAACCAGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATCGCTTCAACACAGGAGGCGGAGGTTGCAGTGAG CTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGT CTCAAAACAAAACAAACGATTAACCAGGTGTGGTGGCGCATGCCTGTAAT CCCAGCTACTT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0007	1	12	0.0833	660	c.325 others(677): Show c.325-3846_325-3845insAAGTAGCTGGGATTACAGGCATGCGCCA CCACACCTGGTTAATCGTTTGTTTTGTTTTGAGACAGAGTCTCACTCTGT CGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTCCGC CTCCTGTGTTGAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAT TACAGGCATGCGCCACCACACCTGGTTAATCGTTTGTTTTGTTTTGAGAC AGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCTCAGCT CACCGCACCCTCCGCCTCCTGTGTTGAAGCGATTCTCCTGCCTCAGCCTC TCAAGTAGCTGGGATTACAGGCATGCGCCACCACACCTGGTTAATCGTTT GTTTTGTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGT AGTGCGACCTCAGCTCACCGCACCCTCCGCCTCCCGGGTTTAAGCGATTC TCCTGCCTCAGCCTCTCGAGTAGCTGGGAGTACAGGCATGCGCCACCACA CCTGGTTAATCGTTTGTTTTGTTTTGAGACAGAGTCTCACTCTGTCGCCC AGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACCGCACCCTCCGCCTCCC GGGTTTAAGCGATTCTCCTGCCTCAGCCTCTC	PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	1/12			chrX	TogoVar
PRDM16_chr1_3064203_3443621	3181086	G G	GGTCTTAC others(653): Show GGTCTTACACACGCAGTCTTACACACGGTCTTACACACAGTCTTACACAC GCAGTCTTACACACGGCCTTACGCATGGTCTTACACACGCAGTCTTACAC ACGGCCTTACGCATGGTCTTACACACGCAGTCTTACACACGGTCTTACAC ACGCAATCTTACACAAGCAGTCTTACACACGGTCTTACACACACGGTCTT ACACACGCAGTCTTACGGTCTTACACACGGTCTTACACACACGGTCTTAC ACACAGTCTTACACACGCAGTCTTACACACGCAGTCTTACACACGCGGTC TTACACAAGCAGTCTTACGGTCTTACACACAGTCTTACACATGGCCTTAC GCATGGTCTTACACACGCAGTCTTACACAAGCGGTCTTACACAAGCGGTC TTACACACGGTCTTACACACGGTCTTACACAGTCTTACACATGCAGTCTT ACACACGGTCTTACATATGGTCTTACACATGCAGTCTTACACACGGTCTT ACACATGCAGTCTTACACACGGTCTTACACACGGTCTTACACAGTCTTAC ACGCGCAGTCTTACACACGGTCTTACACACGGTCTTACACACGCAGTCTT ACACACGGTCTTACACACGGAGTCTTACACACGGAGTCTTACACACAGTC TTACACACGCA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0146 a0001c0002t0002g0146	1	207	0.0048	660	c.38- others(675): Show c.38-5038_38-5037insTCTTACACACGCAGTCTTACACACGGTCTT ACACACAGTCTTACACACGCAGTCTTACACACGGCCTTACGCATGGTCTT ACACACGCAGTCTTACACACGGCCTTACGCATGGTCTTACACACGCAGTC TTACACACGGTCTTACACACGCAATCTTACACAAGCAGTCTTACACACGG TCTTACACACACGGTCTTACACACGCAGTCTTACGGTCTTACACACGGTC TTACACACACGGTCTTACACACAGTCTTACACACGCAGTCTTACACACGC AGTCTTACACACGCGGTCTTACACAAGCAGTCTTACGGTCTTACACACAG TCTTACACATGGCCTTACGCATGGTCTTACACACGCAGTCTTACACAAGC GGTCTTACACAAGCGGTCTTACACACGGTCTTACACACGGTCTTACACAG TCTTACACATGCAGTCTTACACACGGTCTTACATATGGTCTTACACATGC AGTCTTACACACGGTCTTACACATGCAGTCTTACACACGGTCTTACACAC GGTCTTACACAGTCTTACACGCGCAGTCTTACACACGGTCTTACACACGG TCTTACACACGCAGTCTTACACACGGTCTTACACACGGAGTCTTACACAC GGAGTCTTACACACAGTCTTACACACGCAG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2124202	G G	GTCATGGT others(653): Show GTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGTTCATGGTGGTAGTTAG GGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAG TTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTG GTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCAC GGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGGTCA TGGTGGTAGTTAGGATCACGGCTGTAGTTAGGGTCAAGGTGGTAGTTAGG ATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGT TAGGGTCATGGTGGTAGTTAGCGTCATGGTGGTGGTTAGGGTCAAGGTGG TAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATG GCTGTAGTTAGGGTCAAGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGT CATGGTGGTAGTTAGGATCACGGCTGTAGTTAGGGTCAAGGTGGTAGTTA GGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCACGGCTGTA GTTAGGGTCAAGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGT GGTAGTTAGGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0274 a0001c0003t0001g0274	1	266	0.0038	660	c.335 others(679): Show c.335-11057_335-11056insTGGTGGTAGTTAGGGTCGTGGTGGTT AGGTTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGT AGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGG CTATAGTTGGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTC ATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAG GGTCGTGGTGGTTAGGGTCATGGTGGTAGTTAGGATCACGGCTGTAGTTA GGGTCAAGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTA GTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGCGTCATGGT GGTGGTTAGGGTCAAGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCA TGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCAAGGTGGTAGTTAGG ATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCACGGCTGTAGT TAGGGTCAAGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGG TAGTTAGGATCACGGCTGTAGTTAGGGTCAAGGTGGTAGTTAGGATCATG GCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCA	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar

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