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
NOC4L_chr12_132139457_132157468	132150439	C C	CGCCGCCT others(169): Show CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCT CACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	294	0.0034	176	c.902 others(191): Show c.902-455_902-454insGGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150492	G G	GCTCACAC others(169): Show GCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	294	0.0034	176	c.902 others(191): Show c.902-446_902-445insACTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150571	C C	CGCCGCCT others(169): Show CGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGC CTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCT CACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCACACC ACACCCCTAATCCCCTCGGTGAGTGCG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	294	0.0034	176	c.902 others(191): Show c.902-402_902-401insACTCACACCACACCCCTAATCCCCTCGGTG AGTGCGGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCG GCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCC TCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150660	G G	GCCGCCTC others(169): Show GCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTACCGCCGCC TCGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTC ACACCACACCCCTAATCCCCTCGGTGAGTACCGCCGCCTCGCTCATACCA CACCCCTAATCCCCTCGGTGAGTACCA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0054 a0001c0004t0001g0054	1	294	0.0034	176	c.902 others(191): Show c.902-314_902-313insACTCCTACCACACCCCTAATCCCCTCGGTG AGTACCGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTACCGCCGCC TCGCTCATACCACACCCCTAATCCCCTCGGTGAGTACCACCGCCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150747	C C	CGCCGCCT others(169): Show CGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGC CTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACC ACACCCCTAATCCCCTCGGTGAGTGCG	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0020 a0001c0003t0001g0020	1	294	0.0034	176	c.902 others(191): Show c.902-226_902-225insACTCACACCACACCCCTAATCCCCTCGGTG AGTGCGGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150747	C C	CGCCGCCT others(169): Show CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACT CCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACC ACACCCCTAATCCCCTCGGTGAGTGCG	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0164 a0003c0008t0001g0164	1	294	0.0034	176	c.902 others(191): Show c.902-217_902-216insACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCA CTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACA CCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150747	C C	CGCCGCCT others(169): Show CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCG	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	294	0.0034	176	c.902 others(191): Show c.902-217_902-216insACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACA CCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150747	C C	CGCCGCCT others(169): Show CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGC CTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACT CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACC ACACCCCTAATCCCCTCGGTGAGTGCG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	294	0.0034	176	c.902 others(191): Show c.902-217_902-216insACACCCCTAATCCCCTCGGTGAGTGCGGCC GCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCA CTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACA CCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOXRED1_chr14_77389021_77428523	77416743	T T	TGGGCAGA others(169): Show TGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGAGGGCCGACCCCCCCA CCTCACTCCCGGACGGGGCGGCAGGCC	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA19090.hp1 HG02083.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0131 a0001c0001t0001g0132	2	298	0.0067	176	c.156 others(193): Show c.156-2617_156-2616insGGCCTGCCGCCCCGTCCGGGAGTGAGGT GGGGGGGTCGGCCCTCCGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGACCAGCCGCCCCGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC	NOXRED1	ENSG00000165555.10	transcript	ENST00000380835.7	protein_coding	1/5			chr14	TogoVar
NPSR1_chr7_34653218_34854978	34792703	A A	ATATATAT others(169): Show ATATATATATTTATATATATATGTATATATATATTTATATATATATGTAT ATATATATTTTTATATATATATGTATATATATATTTTTATATATATATGT ATATATATATTTTTATATATATATGTATATATATATTTTTTTATATATAT GTATATATATATTTTTTTATATATATG	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0007 a0001c0008t0007	a0001c0008t0007g0232 a0001c0008t0007g0232	1	260	0.0039	176	c.384 others(195): Show c.384+14147_384+14148insTTATATATATATGTATATATATATTT ATATATATATGTATATATATATTTTTATATATATATGTATATATATATTT TTATATATATATGTATATATATATTTTTATATATATATGTATATATATAT TTTTTTATATATATGTATATATATATTTTTTTATATATATGTATATATAT	NPSR1	ENSG00000187258.14	transcript	ENST00000360581.6	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
NPSR1_chr7_34653218_34854978	34792703	A A	ATATATAT others(169): Show ATATATATATTTATATATATATGTATATATATATTTTTATATATATGTAT AGATATATTTTTATATATATATGTATATATATATTTTTATATATATATGT ATATATATATTTTTATATATATATGTATATATATATTTTTTTATATATAT GTATATATATATTTTTTTATATATATG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0220 a0003c0005t0002g0220	1	260	0.0039	176	c.384 others(195): Show c.384+14147_384+14148insTTATATATATATGTATATATATATTT TTATATATATGTATAGATATATTTTTATATATATATGTATATATATATTT TTATATATATATGTATATATATATTTTTATATATATATGTATATATATAT TTTTTTATATATATGTATATATATATTTTTTTATATATATGTATATATAT	NPSR1	ENSG00000187258.14	transcript	ENST00000360581.6	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
NPSR1_chr7_34653218_34854978	34792703	A A	ATATATAT others(169): Show ATATATATATTTATATATATATGTATATATATATTTTTATATATATGTAT ATATATATTTTTATATATATATGTATATATATATTTTTATATATATATGT ATATATATATTTTTATATATATATGTATATATATATTTTTTTATATATAT GTATATATATATTTTTTTATATATATG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG00673.hp1 others(17): Show HG00140.hp1 HG00639.hp1 HG00673.hp1 HG00733.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp2 HG01243.hp1 HG01261.hp1 HG01516.hp2 HG02027.hp1 HG02280.hp1 HG02615.hp2 HG02683.hp2 HG03654.hp2 HG04228.hp2 NA18959.hp2 NA18960.hp2 NA18989.hp1 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0005 a0001c0002 a0003c0005	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(3): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0003c0005t0002 a0003c0005t0011	a0001c0002t0001g0039 a0001c0002t0001g0093 a0001c0002t0001g0231 others(17): Show a0001c0002t0001g0039 a0001c0002t0001g0093 a0001c0002t0001g0231 a0001c0002t0001g0234 a0001c0002t0002g0248 a0001c0002t0003g0210 a0001c0002t0003g0216 a0001c0002t0003g0221 a0001c0002t0003g0225 a0001c0002t0003g0226 a0001c0002t0003g0228 a0001c0002t0003g0230 a0001c0002t0007g0215 a0001c0002t0007g0236 a0003c0005t0002g0182 a0003c0005t0002g0195 a0003c0005t0002g0213 a0003c0005t0002g0224 a0003c0005t0002g0229 a0003c0005t0011g0237	20	260	0.0769	176	c.384 others(195): Show c.384+14147_384+14148insTTATATATATATGTATATATATATTT TTATATATATGTATATATATATTTTTATATATATATGTATATATATATTT TTATATATATATGTATATATATATTTTTATATATATATGTATATATATAT TTTTTTATATATATGTATATATATATTTTTTTATATATATGTATATATAT	NPSR1	ENSG00000187258.14	transcript	ENST00000360581.6	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
NR3C2_chr4_148073764_148447414	148366479	C C	CTTTTAAA others(169): Show CTTTTAAAAAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTA AAAAGTACTTTTTAAAAAGAATTCTTTTTTAAAAGTACTTTTTAAAAAGT ATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTAAAAAGTACTT TTAAAAAAGAATACTTTTTAAAAAGTA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	170	0.0059	176	c.175 others(197): Show c.1757+68624_1757+68625insTACTTTTTAAAAAGTATTCTTTTT TAAAAGTACTTTTTAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAG AATACTTTTTAAAAAGTACTTTTAAAAAAGAATTCTTTTTAAAAAGTACT TTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTTTTTAA AA	NR3C2	ENSG00000151623.15	transcript	ENST00000358102.8	protein_coding	2/8			chr4	TogoVar
NRIP3_chr11_8975576_9009001	8978824	G G	GCGCCTCT others(169): Show GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGTGGGGGGGGGGTCGG CCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCTCGCCCGGC CGGCCGCCCCGTCCGGGAGGTGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0282 a0001c0001t0022g0282	1	406	0.0025	176	c.47 others(187): Show c.4720_*4721insTCCCTCACCTCCCGGACGGGGCGGCCGGCCGGGC GAGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCC CCCCCCCACCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG	NRIP3	ENSG00000175352.12	transcript	ENST00000309166.8	protein_coding		1751		chr11	TogoVar
OBI1_chr13_78609289_78664155	78659304	A A	AGAAAGAA others(169): Show AGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	296	0.0034	176	c.-18 others(185): Show c.-185_-184insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTC	OBI1	ENSG00000152193.8	transcript	ENST00000282003.7	protein_coding		150		chr13	TogoVar
OMP_chr11_77097840_77108331	77098732	C C	CCCCCCCA others(169): Show CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGA CCCCCCCATATCCCTCCCAGACGGGGTGGCTGGCCGGGCTGAGGGGCTCC TCACTTCCCAGTAGGGGCGGGCGGGCAGAGGCGCCCCTCACCTCCTGGAC GGGGCGGCTGGCCGGGCAGGGGGCTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG03453.hp2 HG06807.hp2 HG02735.hp2 HG03453.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	3	440	0.0068	176	c.-41 others(187): Show c.-4108_-4107insCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGTGGGGGGGCTGACCCCCCCATATCCCTCCCAGACGGGGTGGCTGGCC GGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGGCGGGCAGAGGCGCC CCTCACCTCCTGGACGGGGCGGCTGGCCGGGCAGGGGGCTGA	OMP	ENSG00000254550.1	transcript	ENST00000529803.1	protein_coding		4107		chr11	TogoVar
OR11H4_chr14_20234286_20249349	20236553	A A	ATTATATA others(169): Show ATTATATAAATATATAGTATATATATTTATATTATATAAATATATAGTAT ATATATTTATATTATATAAATATATAGTATATATATTTATATTATATAAA TATATAGTATATATATTTATATTATATAAATATATAGTATATATATTTAT ATTATATAAATATATAGTATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG03139.hp2 HG03516.hp2 others(1): Show HG02647.hp2 HG03139.hp2 HG03516.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0037 a0001c0001t0001g0082 a0001c0001t0002g0036 a0001c0001t0001g0037 a0001c0001t0001g0082 a0001c0001t0002g0036	4	439	0.0091	176	c.-27 others(187): Show c.-2790_-2789insTTATATAAATATATAGTATATATATTTATATTAT ATAAATATATAGTATATATATTTATATTATATAAATATATAGTATATATA TTTATATTATATAAATATATAGTATATATATTTATATTATATAAATATAT AGTATATATATTTATATTATATAAATATATAGTATATATATT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		2732		chr14	TogoVar
OR11H4_chr14_20234286_20249349	20236587	A A	ATTATATA others(169): Show ATTATATAAATATATAGTATATATATTTATATTATATAAATATATAGTAT ATATATTTATATTATATAAATATATAGTATATATATTTATATTATATAAA TATATAGTATATATATTTATATTATATAAATATATAGTATATATATTTAT ATTATATAAATATATAGTATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0083	1	439	0.0023	176	c.-27 others(187): Show c.-2756_-2755insTTATATAAATATATAGTATATATATTTATATTAT ATAAATATATAGTATATATATTTATATTATATAAATATATAGTATATATA TTTATATTATATAAATATATAGTATATATATTTATATTATATAAATATAT AGTATATATATTTATATTATATAAATATATAGTATATATATT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		2698		chr14	TogoVar
OR2T12_chr1_248285139_248308424	248306452	C C	CGCCCTGA others(169): Show CGCCCTGAGGACAGGAGCCGCCCTGAGGACAGGAGCCGCCTGAGGACTGG AGCCGCCCTGAGGACTGGAGCCGCCCTGAGGACTGGAGCCGCCCTGAGGA CTGGAGCCCCCTGAGGACTGGAGCCGCCTGAGGACTGGAGCCGCCTGAGG ACTGGAGCCCCCTGAGGACTGGAGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01257.hp1 HG01346.hp2 others(1): Show HG01106.hp2 HG01257.hp1 HG01346.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	406	0.0099	176	c.-32 others(187): Show c.-3297_-3296insCGGCTCCAGTCCTCAGGGGGCTCCAGTCCTCAGG CGGCTCCAGTCCTCAGGCGGCTCCAGTCCTCAGGGGGCTCCAGTCCTCAG GGCGGCTCCAGTCCTCAGGGCGGCTCCAGTCCTCAGGGCGGCTCCAGTCC TCAGGCGGCTCCTGTCCTCAGGGCGGCTCCTGTCCTCAGGGC	OR2T12	ENSG00000177201.3	transcript	ENST00000641276.1	protein_coding		3029		chr1	TogoVar
OSBPL10_chr3_31655825_31986262	31857789	G G	GAGAGACA others(169): Show GAGAGACAAGGAGGTGGGGGAGAGGGGGGGAGAGACGAGGAGGTGGGGGA GGGGGGGAGGGGGGGAGAGGGAGGAAGGGGTTAGGGGAAGAGGGAGAGGA GAGAGAGGGAGTAAAGGGGAGGGGGGGAGAGAGAGACGGGGGGAGAGAGA GGGAGAAAAGGAGAGGGGGGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp2 HG00597.hp1 others(6): Show HG00408.hp1 HG00558.hp2 HG00597.hp1 HG02622.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 NA18982.hp2 NA19030.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0006 a0002c0004 others(3): Show a0001c0001 a0001c0006 a0002c0004 a0002c0007 a0002c0012 a0003c0008	a0001c0001t0001 a0001c0006t0002 a0002c0004t0007 others(4): Show a0001c0001t0001 a0001c0006t0002 a0002c0004t0007 a0002c0007t0004 a0002c0007t0005 a0002c0012t0003 a0003c0008t0001	a0001c0001t0001g0092 a0001c0001t0001g0098 a0001c0001t0001g0099 others(6): Show a0001c0001t0001g0092 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0006t0002g0017 a0002c0004t0007g0167 a0002c0007t0004g0036 a0002c0007t0005g0165 a0002c0012t0003g0178 a0003c0008t0001g0001	9	186	0.0484	176	c.537 others(195): Show c.537+18643_537+18644insTCTCTCTCCCCCCTCTCCTTTTCTCC CTCTCTCTCCCCCCGTCTCTCTCTCCCCCCCTCCCCTTTACTCCCTCTCT CTCCTCTCCCTCTTCCCCTAACCCCTTCCTCCCTCTCCCCCCCTCCCCCC CTCCCCCACCTCCTCGTCTCTCCCCCCCTCTCCCCCACCTCCTTGTCTCT	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	3/11			chr3	TogoVar
OSBPL10_chr3_31655825_31986262	31857789	G G	GGAGAGAC others(169): Show GGAGAGACAAGGAGGTGGGGGAGAGTGGGGGAGAGACGAGGAGGTGGGGG AGGGGGGGAGGGGGGGAGAGGGAGGAAGGGGTTAGGGGAAGAGGGAGAGG AGAGAGAGGGAGTAAAGGGGAGGGGGGGAGAGAGAGACGGGGGAGAGAGA GGGAGAAAAGGAGAGGGGGGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0026 a0002c0005t0002g0026	1	186	0.0054	176	c.537 others(195): Show c.537+18643_537+18644insTCTCTCTCCCCCCTCTCCTTTTCTCC CTCTCTCTCCCCCGTCTCTCTCTCCCCCCCTCCCCTTTACTCCCTCTCTC TCCTCTCCCTCTTCCCCTAACCCCTTCCTCCCTCTCCCCCCCTCCCCCCC TCCCCCACCTCCTCGTCTCTCCCCCACTCTCCCCCACCTCCTTGTCTCTC	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	3/11			chr3	TogoVar
OSBPL10_chr3_31655825_31986262	31857789	G G	GGAGAGAC others(169): Show GGAGAGACGAGGAGGTGGGGGAGAGTGGGGGAGAGACGAGGAGGTGGGGG AGGGGGGGAGGGGGGGAGAGGGAGGAAGGGGTTAGGGGAAGAGGGAGAGG AGAGAGAGGGAGTAAAGGGGAGGGGGGGAGAGAGAGACGGGGGAGAGAGA GGGAGAAAAGGAGAGGGGGGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA19070.hp1 HG00423.hp1 NA19070.hp1	a0001 a0002 a0001 a0002	a0001c0026 a0002c0007 a0001c0026 a0002c0007	a0001c0026t0002 a0002c0007t0004 a0001c0026t0002 a0002c0007t0004	a0001c0026t0002g0150 a0002c0007t0004g0027 a0001c0026t0002g0150 a0002c0007t0004g0027	2	186	0.0108	176	c.537 others(195): Show c.537+18643_537+18644insTCTCTCTCCCCCCTCTCCTTTTCTCC CTCTCTCTCCCCCGTCTCTCTCTCCCCCCCTCCCCTTTACTCCCTCTCTC TCCTCTCCCTCTTCCCCTAACCCCTTCCTCCCTCTCCCCCCCTCCCCCCC TCCCCCACCTCCTCGTCTCTCCCCCACTCTCCCCCACCTCCTCGTCTCTC	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	3/11			chr3	TogoVar
OSBPL10_chr3_31655825_31986262	31857789	G G	GGAGAGAC others(169): Show GGAGAGACGAGGAGGTGGGGGAGAGTGGGGGAGAGACGAGGAGGTGGGGG AGGGGGGGAGGGGGGGAGAGGGAGGAAGGGGTTAGGGGAAGAGGGAGAGG AGAGAGAGGGAGTAAAGGGGAGGGGGGGAGAGAGAGACGGGGGGAGAGAG AGGGAGAAAAGGAGAGGGGGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03453.hp1 HG03579.hp1 HG02258.hp2 HG03453.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0068 a0001c0001t0001g0142 a0001c0006t0001g0091 a0001c0001t0001g0068 a0001c0001t0001g0142 a0001c0006t0001g0091	3	186	0.0161	176	c.537 others(195): Show c.537+18643_537+18644insTCTCTCTCCCCCTCTCCTTTTCTCCC TCTCTCTCCCCCCGTCTCTCTCTCCCCCCCTCCCCTTTACTCCCTCTCTC TCCTCTCCCTCTTCCCCTAACCCCTTCCTCCCTCTCCCCCCCTCCCCCCC TCCCCCACCTCCTCGTCTCTCCCCCACTCTCCCCCACCTCCTCGTCTCTC	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	3/11			chr3	TogoVar
OSMR_chr5_38841012_38940641	38862297	C C	CCCCCCCA others(169): Show CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACG GGGCAGCTGGCCGGGCGGGGGGCTGAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0022 a0003c0003t0022	a0003c0003t0022g0225 a0003c0003t0022g0225	1	382	0.0026	176	c.-13 others(193): Show c.-13-6710_-13-6709insCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGC AGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGG	OSMR	ENSG00000145623.13	transcript	ENST00000274276.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAK1_chr11_77317017_77479094	77332351	A A	AGGGAAGG others(169): Show AGGGAAGGGAAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGGGGAGGGG AGGGGAGGGGGAGGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGG AGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGG AGGGGAAGGAAGGGAAGGGAAGGGAAG	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	302	0.0033	176	c.155 others(193): Show c.1551+378_1551+379insCTTCCCTTCCCTTCCCTTCCTTCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTC CCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTC CCCTCCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTTCCCTTCCC	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	14/14			chr11	TogoVar
PALM_chr19_703935_753329	720445	A A	AGGGGGGG others(169): Show AGGGGGGGCGCATCCTGCGTGTCCTGGGGAAAGGCGAGGGGGCGCCCGGG CCTGGGGAGAGGTGAGGGGGGCGCCGGGTCTGGGGAGGGGCGAGAGGGGC GCCCGGGCCTGGGGAGAGTGAAGGGGGCGCCGGGTCTGGGGAGGGGCGAG GGGGGCGCCGGGTCTGGGGAGGGGCAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0149 a0001c0002t0001g0149	1	404	0.0025	176	c.6-5 others(189): Show c.6-5687_6-5686insGCGCATCCTGCGTGTCCTGGGGAAAGGCGAGG GGGCGCCCGGGCCTGGGGAGAGGTGAGGGGGGCGCCGGGTCTGGGGAGGG GCGAGAGGGGCGCCCGGGCCTGGGGAGAGTGAAGGGGGCGCCGGGTCTGG GGAGGGGCGAGGGGGGCGCCGGGTCTGGGGAGGGGCAAGGGGGG	PALM	ENSG00000099864.18	transcript	ENST00000338448.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
PALM_chr19_703935_753329	720508	A A	AGGGGGGC others(169): Show AGGGGGGCGCCGGGTCTGGGGAGGGGCGAGAGGGGCGCCCGGGCCTGGGG AGAGTGAAGGGGGCGCCGGGTCTGGGGAGGGGCGAGGGGGGCGCCGGGTC TGGGGAGGGGCAAGGGGGGCGCATCCTGCGTGTCCTGGGGAAAGGCGAGG GGGCGCCCGGGCCTGGGGAGAGGTGAG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0205 a0001c0002t0001g0205	1	404	0.0025	176	c.6-5 others(189): Show c.6-5520_6-5519insAAGGGGGGCGCATCCTGCGTGTCCTGGGGAAA GGCGAGGGGGCGCCCGGGCCTGGGGAGAGGTGAGGGGGGGCGCCGGGTCT GGGGAGGGGCGAGAGGGGCGCCCGGGCCTGGGGAGAGTGAAGGGGGCGCC GGGTCTGGGGAGGGGCGAGGGGGGCGCCGGGTCTGGGGAGGGGC	PALM	ENSG00000099864.18	transcript	ENST00000338448.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
PALM_chr19_703935_753329	720592	A A	AGGGGGGC others(169): Show AGGGGGGCGCCGGGTCTGGGGAGGGGCAAGGGGGGCGCATCCTGCGTGTC CTGGGGAAAGGCGAGGGGGCGCCCGGGCCTGGGGAGAGGTGAGGGGGGCG CCGGGTCTGGGGAGGGGCGAGAGGGGCGCCCGGGCCTGGGGAGAGTGAAG GGGGCGCCGGGTCTGGGGAGGGGCGAG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0122 a0001c0003t0001g0122	1	404	0.0025	176	c.6-5 others(189): Show c.6-5520_6-5519insAAGGGGGGCGCATCCTGCGTGTCCTGGGGAAA GGCGAGGGGGCGCCCGGGCCTGGGGAGAGGTGAGGGGGGCGCCGGGTCTG GGGAGGGGCGAGAGGGGCGCCCGGGCCTGGGGAGAGTGAAGGGGGCGCCG GGTCTGGGGAGGGGCGAGGGGGGGCGCCGGGTCTGGGGAGGGGC	PALM	ENSG00000099864.18	transcript	ENST00000338448.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
PARP9_chr3_122522924_122569300	122539507	A A	ATTCCTTT others(169): Show ATTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0329 a0002c0001t0001g0329	1	436	0.0023	176	c.176 others(193): Show c.1765+964_1765+965insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAA	PARP9	ENSG00000138496.17	transcript	ENST00000682323.1	protein_coding	8/10			chr3	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(169): Show TATGTATTACATATATGTAATACATATATAACATACATGTATTACATATA TGTAATACATATATAACATATATGTATTACATATATGTAATACATATATA ACATGTATTACATATATGTATTACATATATGTAATACATATATAACATGT ATTACATATATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	400	0.0025	176	c.70 others(187): Show c.7084_*7085insATGTATTACATATATGTAATACATATATAACATA CATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTAATACATATATAACATGTATTACATATATGTATTACATATATGTAAT ACATATATAACATGTATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(169): Show TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTAATACATATATAACATATATGTATTACATATATGTAATACATATATA ACATGTATTACATATATGTATTACATATATGTAATACATATATAACATGT ATTACATATATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02647.hp1 HG02922.hp1 others(2): Show HG01891.hp1 HG02647.hp1 HG02922.hp1 HG06807.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0001 a0001c0001t0016g0028 a0001c0001t0001g0001 a0001c0001t0016g0028	5	400	0.0125	176	c.70 others(187): Show c.7084_*7085insATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTAATACATATATAACATGTATTACATATATGTATTACATATATGTAAT ACATATATAACATGTATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PCBP3_chr21_45638725_45947450	45909853	G G	CCCACCCA others(169): Show CCCACCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCCAGATAC GGACCCCGGCCCACCCACTGCCCAGATACGGACCCCCCCCCCACCCACTG CCCAGATACGGACCCCCCCCCCACCCACTGCCCAGATACGGACCCCCCTC CACCCACTGCCCAGATACGGACCCCCT	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0137 a0004c0007t0001g0137	1	292	0.0034	176	c.471 others(188): Show c.471+367delGinsCCCACCCACTGCCCAGATACGGACCCCCCCCCAC CCACTGCCCCAGATACGGACCCCGGCCCACCCACTGCCCAGATACGGACC CCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCCACCCACTGCCCA GATACGGACCCCCCTCCACCCACTGCCCAGATACGGACCCCCT	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17			chr21	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CGATAGAT others(169): Show CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	436	0.0023	176	c.-26 others(187): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCGATAGATACATCTATC TATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCTATCGA TAGATACATCTATCTATCTATCGATAGATACATCTATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCSK2_chr20_17222040_17489578	17449526	G G	GTGTATAT others(169): Show GTGTATATATATATATATGTATGTATGTATATATATATATATATATATGT ATGTATGTATATATATATATATGTATGTATGTATGTATATATATATATAT GTATGTATGTATATATATATATATATATGTATGTATGTGTATATATATAT ATATATATGTATGTATGTATATATATA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0191 a0001c0001t0012g0191	1	274	0.0037	176	c.886 others(193): Show c.886-4215_886-4214insGTATATATATATATATGTATGTATGTAT ATATATATATATATATATGTATGTATGTATATATATATATATGTATGTAT GTATGTATATATATATATATGTATGTATGTATATATATATATATATATGT ATGTATGTGTATATATATATATATATATGTATGTATGTATATATATAT	PCSK2	ENSG00000125851.10	transcript	ENST00000262545.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
PCSK6_chr15_101298933_101494707	101311686	C C	CCCCTCAC others(169): Show CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CCCCTCACAGCCCACCCCATCGTCACA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0191 a0001c0005t0001g0191	1	336	0.0030	176	c.269 others(195): Show c.2699+1689_2699+1690insTGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101312088	C C	CCCCTCAC others(169): Show CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CACCCTCACAGCCCACCCCATCGTCACACCCTCACAGCCCACCCCATCGT CACCCCTCACAGCCCACCCCATCGTCA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG03831.hp2 NA19081.hp1 HG00609.hp2 HG03831.hp2 NA19081.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0006 a0007c0025 a0001c0001 a0001c0006 a0007c0025	a0001c0001t0001 a0001c0006t0001 a0007c0025t0001 a0001c0001t0001 a0001c0006t0001 a0007c0025t0001	a0001c0001t0001g0279 a0001c0006t0001g0122 a0007c0025t0001g0324 a0001c0001t0001g0279 a0001c0006t0001g0122 a0007c0025t0001g0324	3	336	0.0089	176	c.269 others(195): Show c.2699+1287_2699+1288insTGACGATGGGGTGGGCTGTGAGGGGT GACGATGGGGTGGGCTGTGAGGGTGTGACGATGGGGTGGGCTGTGAGGGT GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101312185	G G	GTCACCCC others(169): Show GTCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATC GTCACACCCTCACAGCCCACCCCATCATCACCCCTCACAGCCCACCCCAT CGTCACCCCTCACAGCTCACCCCATCGTCACCCCTCACAGCTCACCCCAT CGTCACCCCTCACAGCCCACCCCATCA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0282 a0001c0009t0001g0282	1	336	0.0030	176	c.269 others(195): Show c.2699+1190_2699+1191insTGATGGGGTGGGCTGTGAGGGGTGAC GATGGGGTGAGCTGTGAGGGGTGACGATGGGGTGAGCTGTGAGGGGTGAC GATGGGGTGGGCTGTGAGGGGTGATGATGGGGTGGGCTGTGAGGGTGTGA CGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGGTGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101312185	G G	GTCACCCC others(169): Show GTCACCCCTCACAGCTCACCCCATCGTCACCCCTCACAGCCCACCCCATC GTCACACCCTCACAGCCCACCCCATCATCACCCCTCACAGCCCACCCCAT CGTCACCCCTCACAGCTCACCCCATCGTCACCCCTCACAGCTCACCCCAT CGTCACCCCTCACAGCCCACCCCATCA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0061 a0001c0061	a0001c0061t0001 a0001c0061t0001	a0001c0061t0001g0309 a0001c0061t0001g0309	1	336	0.0030	176	c.269 others(195): Show c.2699+1190_2699+1191insTGATGGGGTGGGCTGTGAGGGGTGAC GATGGGGTGAGCTGTGAGGGGTGACGATGGGGTGAGCTGTGAGGGGTGAC GATGGGGTGGGCTGTGAGGGGTGATGATGGGGTGGGCTGTGAGGGTGTGA CGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGAGCTGTGAGGGGTGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PDE6B_chr4_620573_675782	635198	C C	CGCCTGCC others(169): Show CGCCTGCCTGCGTGTTCTGTGCTGCGCGTCCACCTCCTTACCTGCCTGCC CGCGTGTTCTGTGCTGCGCGTCCACCTCCTTACCTGCCTGCCCGCCTGCC CGTGTGTTCTCTGCTGCGTGTCTGCCTCCTTACCTGCCTGCCCGCGTGTT CTGTGCTGCGTGTCTGCCTCCTTACCT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0002 a0001c0021t0002	a0001c0021t0002g0188 a0001c0021t0002g0188	1	308	0.0033	176	c.621 others(191): Show c.621+376_621+377insTGCGTGTTCTGTGCTGCGCGTCCACCTCCT TACCTGCCTGCCCGCGTGTTCTGTGCTGCGCGTCCACCTCCTTACCTGCC TGCCCGCCTGCCCGTGTGTTCTCTGCTGCGTGTCTGCCTCCTTACCTGCC TGCCCGCGTGTTCTGTGCTGCGTGTCTGCCTCCTTACCTGCCTGCC	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PGBD2_chr1_248901235_248924146	248911643	A A	AGACGGGG others(169): Show AGACGGGGCGGCTGGCCGGGCAAAGGGGCTCCTCACTTCCCAGTAGGGGC AGCCGGGCAGAGGCGCCCCTCACCTCCCAGGCGGGTCGGCTGGCCAGGCG GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCTG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0193 a0001c0003t0001g0193	1	422	0.0024	176	c.-47 others(193): Show c.-47-2152_-47-2151insAAGGGGCTCCTCACTTCCCAGTAGGGGC AGCCGGGCAGAGGCGCCCCTCACCTCCCAGGCGGGTCGGCTGGCCAGGCG GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCA	PGBD2	ENSG00000185220.12	transcript	ENST00000329291.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
PGBD2_chr1_248901235_248924146	248911643	A A	AGACGGGG others(169): Show AGACGGGGCGGCTGGCCGGGCAAAGGGGCTCCTCACTTCCCAGTAGGGGC AGCCGGGCAGAGGCGCCCCTCACCTCCCAGGCGGGTCGGCTGGCCAGGCG GGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCTG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0148 a0003c0004t0001g0148	1	422	0.0024	176	c.-47 others(193): Show c.-47-2152_-47-2151insAAGGGGCTCCTCACTTCCCAGTAGGGGC AGCCGGGCAGAGGCGCCCCTCACCTCCCAGGCGGGTCGGCTGGCCAGGCG GGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCA	PGBD2	ENSG00000185220.12	transcript	ENST00000329291.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
PGBD2_chr1_248901235_248924146	248911738	G G	GGGCGGGG others(169): Show GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGTGGCTGGCCT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00735.hp1 HG01261.hp1 others(17): Show HG00280.hp1 HG00735.hp1 HG01261.hp1 HG02055.hp1 HG02486.hp2 HG02572.hp2 HG02615.hp1 HG02647.hp2 HG02717.hp1 HG02895.hp2 HG02896.hp1 HG02965.hp1 HG03098.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 NA18522.hp2 NA18906.hp1 NA19030.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0029 a0001c0001t0001g0048 others(10): Show a0001c0001t0001g0014 a0001c0001t0001g0029 a0001c0001t0001g0048 a0001c0001t0001g0109 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0192	20	422	0.0474	176	c.-47 others(193): Show c.-47-2039_-47-2038insCGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGT GGCTGGCCTGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG	PGBD2	ENSG00000185220.12	transcript	ENST00000329291.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
PHF3_chr6_63630802_63731011	63688231	C C	CCCCCCTC others(169): Show CCCCCCTCCCCTCCCCATCCCCTCCCACTCCGCTCGCCTCCCCTCCCCCT CCCCCGTCCCTCTCCCATCCCCCTCCCCTCTCCCATCCCCCTCCCATCCC CCTCCCCTCTCCCATCCCCCTCCCCCTCCCCTCCCCCCCTCCCCCTCCCC TCCCCCCTTCCCCTCCCCTCCCCCCTT	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0231 a0001c0001t0002g0231	1	320	0.0031	176	c.218 others(195): Show c.2189+2324_2189+2325insCTCCCCTCCCCATCCCCTCCCACTCC GCTCGCCTCCCCTCCCCCTCCCCCGTCCCTCTCCCATCCCCCTCCCCTCT CCCATCCCCCTCCCATCCCCCTCCCCTCTCCCATCCCCCTCCCCCTCCCC TCCCCCCCTCCCCCTCCCCTCCCCCCTTCCCCTCCCCTCCCCCCTTCCCC	PHF3	ENSG00000118482.12	transcript	ENST00000262043.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHF3_chr6_63630802_63731011	63688231	C C	CCCCCCTC others(169): Show CCCCCCTCCCCTCCCCATCCCCTCCCACTCCGCTCTGCCTCCCCTCCCCC TCCCCCGTCCCTCTCCATCCCCCTCCCCTCTCCCATCCCCCTCCCCATCC CCTCCCCTCTCCCATCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCT CCCCCCTTCCCCCTCCCCTCCCCCCTT	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0230 a0001c0001t0002g0230	1	320	0.0031	176	c.218 others(195): Show c.2189+2324_2189+2325insCTCCCCTCCCCATCCCCTCCCACTCC GCTCTGCCTCCCCTCCCCCTCCCCCGTCCCTCTCCATCCCCCTCCCCTCT CCCATCCCCCTCCCCATCCCCTCCCCTCTCCCATCCCCCTCCCCCTCCCC TCCCCCCTCCCCCTCCCCTCCCCCCTTCCCCCTCCCCTCCCCCCTTCCCC	PHF3	ENSG00000118482.12	transcript	ENST00000262043.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHKA1_chrX_72573814_72719306	72681480	A A	ATCTGGGA others(169): Show ATCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCG TCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCAGCCCGGCCAGCCACCCCGTCCGGGAGGGAGATGGGGGGGT CAGCCCCCCACCTGGCCAGCCGCCCCG	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA19003.hp2 NA18968.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0061 a0001c0001t0001g0062	2	237	0.0084	176	c.537 others(193): Show c.537+3017_537+3018insCGGGGCGGCTGGCCAGGTGGGGGGCTGA CCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGA	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PIK3C2A_chr11_17081575_17212986	17193863	A A	AGGAGGGG others(169): Show AGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0183 a0002c0004t0003g0183	1	342	0.0029	176	c.-66 others(195): Show c.-66+13984_-66+13985insCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC	PIK3C2A	ENSG00000011405.14	transcript	ENST00000691414.1	protein_coding	1/32			chr11	TogoVar
PIK3C2A_chr11_17081575_17212986	17193868	A A	AGGAGGGG others(169): Show AGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG03942.hp2 NA18941.hp2 others(1): Show HG02155.hp1 HG03942.hp2 NA18941.hp2 NA20905.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0016 a0001c0001 a0007c0016	a0001c0001t0002 a0001c0001t0015 a0007c0016t0002 a0001c0001t0002 a0001c0001t0015 a0007c0016t0002	a0001c0001t0002g0110 a0001c0001t0002g0132 a0001c0001t0015g0314 others(1): Show a0001c0001t0002g0110 a0001c0001t0002g0132 a0001c0001t0015g0314 a0007c0016t0002g0122	4	342	0.0117	176	c.-66 others(195): Show c.-66+13979_-66+13980insCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC	PIK3C2A	ENSG00000011405.14	transcript	ENST00000691414.1	protein_coding	1/32			chr11	TogoVar
PJA2_chr5_109329722_109414974	109340619	C C	CCTCTCCC others(169): Show CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02148.hp2 HG02976.hp2 others(4): Show HG00738.hp2 HG02148.hp2 HG02976.hp2 HG03453.hp1 HG03704.hp2 HG04115.hp1 NA19002.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0003 a0001c0001t0024 a0003c0003t0002 a0001c0001t0003 a0001c0001t0024 a0003c0003t0002	a0001c0001t0003g0003 a0001c0001t0024g0343 a0003c0003t0002g0059 others(4): Show a0001c0001t0003g0003 a0001c0001t0024g0343 a0003c0003t0002g0059 a0003c0003t0002g0067 a0003c0003t0002g0078 a0003c0003t0002g0082 a0003c0003t0002g0102	7	346	0.0202	176	c.200 others(195): Show c.2002-3264_2002-3263insAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	9/9			chr5	TogoVar
PKP3_chr11_389209_409908	402343	G G	GCCCCGCT others(169): Show GCCCCGCTCACCCCCGACCCGCTCACACCCGGCCCCGCTCACCCCGGCCC CGCTCACACCCGCCCCGCTCACCCCGGACCCCGCTCACCCCCGACCCGCT CACCCCGGCCCCGCTCACCCCAGCCCCGCTCACACCCGCCCCGCTCACCC GGGACCCCGCTCACACCCGCCCCGCTC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02486.hp2 HG02897.hp2 others(2): Show HG02451.hp1 HG02486.hp2 HG02897.hp2 HG06807.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0010 a0001c0002 a0001c0004 a0001c0010	a0001c0002t0001 a0001c0004t0001 a0001c0010t0003 a0001c0002t0001 a0001c0004t0001 a0001c0010t0003	a0001c0002t0001g0174 a0001c0002t0001g0176 a0001c0002t0001g0178 others(2): Show a0001c0002t0001g0174 a0001c0002t0001g0176 a0001c0002t0001g0178 a0001c0004t0001g0070 a0001c0010t0003g0018	5	216	0.0232	176	c.173 others(193): Show c.1738-735_1738-734insCCCCGCTCACCCCCGACCCGCTCACACC CGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCGGAC CCCGCTCACCCCCGACCCGCTCACCCCGGCCCCGCTCACCCCAGCCCCGC TCACACCCGCCCCGCTCACCCGGGACCCCGCTCACACCCGCCCCGCTC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
PLA2G4A_chr1_186823949_186993981	186857071	C C	CTTTTAAC others(169): Show CTTTTAACATGGCAGTCATATATAATATATATTATATAATATTATATATT ATATATTATATATTATATAATATATATTATATAATATATATTATATATTA TATAATATATATTATATAATATATATTATATATTATATAATATAATTATA TATTATATAATTATATAATTATATATT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	310	0.0032	176	c.33+ others(191): Show c.33+2684_33+2685insTTTTAACATGGCAGTCATATATAATATATA TTATATAATATTATATATTATATATTATATATTATATAATATATATTATA TAATATATATTATATATTATATAATATATATTATATAATATATATTATAT ATTATATAATATAATTATATATTATATAATTATATAATTATATATT	PLA2G4A	ENSG00000116711.10	transcript	ENST00000367466.4	protein_coding	2/17			chr1	TogoVar

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