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
OR52E6_chr11_5835928_5846897	5844253	T T	TTATATTA others(204): Show TTATATTATATATATTATATATATTATATATATAATATATATTATATATA TTATATATAATATATATTATATATAATATATATAATATATATTATATATA ATATATATTATATATAATATATATAATATATATTATATATATTATATATT ATATATAATATATATAATATATATTATATATATTATATATAATATATATA ATATATATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp2 HG02572.hp1 HG02602.hp1 others(2): Show HG02148.hp2 HG02572.hp1 HG02602.hp1 HG02976.hp2 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	5	450	0.0111	211	c.-23 others(222): Show c.-2357_-2356insTATAATATATATTATATATATTATATATAATATA TATAATATATATTATATATATTATATATAATATATAATATATATAATATA TATTATATATATTATATATAATATATATTATATATAATATATATTATATA TATTATATATAATATATATTATATATAATATATATAATATATATTATATA TATAATATATATAATATATATAATATA	OR52E6	ENSG00000205409.3	transcript	ENST00000329322.5	protein_coding		2357		chr11	TogoVar
OR52E6_chr11_5835928_5846897	5844253	T T	TTATATTA others(204): Show TTATATTATATATATTATATATATTATATATATAATATATATTATATATA TTATATATAATATATATTATATATAATATATATTATATATATTATATATA ATATATATTATATATAATATATATAATATATATTATATATATTATATATT ATATATAATATATATAATATATATTATATATATTATATATAATATATATA ATATATATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00642.hp1 HG00673.hp1 others(9): Show HG00558.hp1 HG00642.hp1 HG00673.hp1 HG01346.hp1 HG01496.hp2 HG01952.hp1 HG01978.hp2 HG01993.hp1 HG02074.hp2 NA18948.hp2 NA18969.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	12	450	0.0267	211	c.-23 others(222): Show c.-2357_-2356insTATAATATATATTATATATATTATATATAATATA TATAATATATATTATATATATTATATATAATATATAATATATATAATATA TATTATATATATTATATATAATATATATTATATATAATATATATAATATA TATTATATATAATATATATTATATATAATATATATAATATATATTATATA TATAATATATATAATATATATAATATA	OR52E6	ENSG00000205409.3	transcript	ENST00000329322.5	protein_coding		2357		chr11	TogoVar
OR52E6_chr11_5835928_5846897	5844253	T T	TTATATTA others(204): Show TTATATTATATATATTATATATATTATATATATAATATATATTATATATA TTATATATAATATATATTATATATAATATATATTATATATATTATATATA ATATATATTATATATATTATATATAATATATATTATATATAATATATATT ATATATAATATATATAATATATATTATATATATTATATATAATATATATA ATATATATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	450	0.0022	211	c.-23 others(222): Show c.-2357_-2356insTATAATATATATTATATATATTATATATAATATA TATAATATATATTATATATATTATATATAATATATATTATATATAATATA TATTATATATAATATATATAATATATATTATATATAATATATATAATATA TATTATATATAATATATATTATATATAATATATATAATATATATTATATA TATAATATATATAATATATATAATATA	OR52E6	ENSG00000205409.3	transcript	ENST00000329322.5	protein_coding		2357		chr11	TogoVar
P2RY8_chrX_1457581_1542185	1468898	T T	TTCCCTCT others(204): Show TTCCCTCTCCCCTCTCCCCTCTCCCCTCTCTCCTCTCCCCTCTCCCCTCC CCTTCCCTCTCCCCTCTCCCCTCCCCTTCCCTCTCCCCTCTCCCCTCCCC TTCCCTCTCCCCTCTCCCCTCCCCTTCCCTCTCCCCTCTCCCCTCCCCTT CCCTCTCCCCTCTCCCCTCCCCTTCCCTCTCCCCTCTCCCCTCCCCTTCC CTCTCCCCTCTC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	114	0.0088	211	c.-24 others(228): Show c.-24-2317_-24-2316insGAGAGGGGAGAGGGAAGGGGAGGGGAGA GGGGAGAGGGAAGGGGAGGGGAGAGGGGAGAGGGAAGGGGAGGGGAGAGG GGAGAGGGAAGGGGAGGGGAGAGGGGAGAGGGAAGGGGAGGGGAGAGGGG AGAGGGAAGGGGAGGGGAGAGGGGAGAGGGAAGGGGAGGGGAGAGGGGAG AGGAGAGAGGGGAGAGGGGAGAGGGGAGAGGGA	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
PCDHGA1_chr5_141325514_141517975	141407491	A A	ATTTCTGT others(204): Show ATTTCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCT CAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTA ATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0255 a0003c0004t0001g0255	1	268	0.0037	211	c.242 others(232): Show c.2421+74397_2421+74398insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAC TGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATG CCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCC ACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTT	PCDHGA1	ENSG00000204956.6	transcript	ENST00000517417.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA2_chr5_141333760_141517975	141407491	A A	ATTTCTGT others(204): Show ATTTCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCT CAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTA ATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	272	0.0037	211	c.242 others(232): Show c.2424+66107_2424+66108insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAC TGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATG CCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCC ACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTT	PCDHGA2	ENSG00000081853.15	transcript	ENST00000394576.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA3_chr5_141338829_141517975	141407491	A A	ATTTCTGT others(204): Show ATTTCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCT CAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTA ATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0028 a0003c0003t0001g0028	1	270	0.0037	211	c.242 others(232): Show c.2424+61045_2424+61046insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAC TGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATG CCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCC ACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTT	PCDHGA3	ENSG00000254245.3	transcript	ENST00000253812.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA4_chr5_141350021_141517975	141407491	A A	ATTTCTGT others(204): Show ATTTCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCT CAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTA ATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0242 a0002c0002t0001g0242	1	274	0.0037	211	c.251 others(232): Show c.2514+49881_2514+49882insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAC TGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATG CCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCC ACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTT	PCDHGA4	ENSG00000262576.3	transcript	ENST00000571252.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA5_chr5_141359162_141517975	141407491	A A	ATTTCTGT others(204): Show ATTTCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCT CAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTA ATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0121 a0001c0002t0001g0121	1	292	0.0034	211	c.242 others(232): Show c.2421+40751_2421+40752insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAC TGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATG CCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCC ACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTT	PCDHGA5	ENSG00000253485.3	transcript	ENST00000518069.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA6_chr5_141368891_141517975	141407491	A A	ATTTCTGT others(204): Show ATTTCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCT CAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTA ATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0272 a0001c0002t0001g0272	1	292	0.0034	211	c.242 others(232): Show c.2424+30995_2424+30996insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAC TGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATG CCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCC ACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTT	PCDHGA6	ENSG00000253731.3	transcript	ENST00000517434.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA7_chr5_141377742_141517975	141407491	A A	ATTTCTGT others(204): Show ATTTCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCT CAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTA ATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	292	0.0034	211	c.242 others(232): Show c.2424+22179_2424+22180insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAC TGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATG CCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCC ACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTT	PCDHGA7	ENSG00000253537.3	transcript	ENST00000518325.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA8_chr5_141387633_141517975	141407491	A A	ATTTCTGT others(204): Show ATTTCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCT CAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTA ATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0001 a0010c0014t0001	a0010c0014t0001g0009 a0010c0014t0001g0009	1	302	0.0033	211	c.242 others(232): Show c.2424+12265_2424+12266insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAC TGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATG CCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCC ACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTT	PCDHGA8	ENSG00000253767.3	transcript	ENST00000398604.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA9_chr5_141397778_141517975	141407491	A A	ATTTCTGT others(204): Show ATTTCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCT CAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTA ATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0292 a0001c0005t0001g0292	1	302	0.0033	211	c.242 others(230): Show c.2424+2126_2424+2127insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTG CAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCC ATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCAC TACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTT	PCDHGA9	ENSG00000261934.3	transcript	ENST00000573521.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB1_chr5_141345099_141517975	141407491	A A	ATTTCTGT others(204): Show ATTTCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCT CAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTA ATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0025 a0002c0004t0001g0025	1	278	0.0036	211	c.240 others(232): Show c.2409+54833_2409+54834insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAC TGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATG CCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCC ACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTT	PCDHGB1	ENSG00000254221.3	transcript	ENST00000523390.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB2_chr5_141354994_141517975	141407491	A A	ATTTCTGT others(204): Show ATTTCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCT CAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTA ATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0271 a0003c0003t0001g0271	1	288	0.0035	211	c.242 others(232): Show c.2421+44946_2421+44947insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAC TGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATG CCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCC ACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTT	PCDHGB2	ENSG00000253910.3	transcript	ENST00000522605.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB3_chr5_141365242_141517975	141407491	A A	ATTTCTGT others(204): Show ATTTCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCT CAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTA ATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0278 a0003c0003t0001g0278	1	296	0.0034	211	c.241 others(232): Show c.2415+34693_2415+34694insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAC TGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATG CCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCC ACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTT	PCDHGB3	ENSG00000262209.3	transcript	ENST00000576222.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB4_chr5_141382698_141517975	141407491	A A	ATTTCTGT others(204): Show ATTTCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCT CAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTA ATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	294	0.0034	211	c.239 others(232): Show c.2397+17221_2397+17222insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAC TGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATG CCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCC ACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTT	PCDHGB4	ENSG00000253953.3	transcript	ENST00000519479.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB5_chr5_141392947_141517975	141407491	A A	ATTTCTGT others(204): Show ATTTCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCT CAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTA ATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0027 a0004c0005t0002g0027	1	300	0.0033	211	c.239 others(230): Show c.2397+6978_2397+6979insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTG CAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCC ATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCAC TACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTT	PCDHGB5	ENSG00000276547.2	transcript	ENST00000617380.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB6_chr5_141403021_141517975	141407491	A A	ATTTCTGT others(204): Show ATTTCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCT CAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTA ATTTTTTGCATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0162 a0002c0003t0001g0162	1	302	0.0033	211	c.-71 others(220): Show c.-712_-711insTTTCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACT GCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGC CATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCA CTACGCCCGGCTAATTTTTTGCATT	PCDHGB6	ENSG00000253305.3	transcript	ENST00000520790.2	protein_coding		529		chr5	TogoVar
PDCD6_chr5_266646_319974	318050	C C	CCTCCCCC others(204): Show CCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGCACCTCCTCCCTCCCTC TCCCCCTCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCC ACTTTCCACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCC ACCTCCCCCCTCACCTCCCCCCTACACCTCCCCCCATCTTTTACCTCCCT CCCACCCTGCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02886.hp2 HG03130.hp2 others(3): Show HG01891.hp2 HG02886.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03486.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0020 a0003c0005t0004g0305 a0003c0005t0004g0307 others(2): Show a0003c0005t0004g0020 a0003c0005t0004g0305 a0003c0005t0004g0307 a0003c0005t0004g0308 a0003c0005t0004g0309	6	360	0.0167	211	c.35 others(222): Show c.3535_*3536insCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGCA CCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCCC CTCACCTCCCCCCCCACTTTCCACCTCCCCCCTCCACCTCCCCCCTCACC TCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCTACACCTCCCCCC ATCTTTTACCTCCCTCCCACCCTGCAT	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3077		chr5	TogoVar
PDIA6_chr2_10778391_10817785	10806628	C C	CAAAGAAA others(204): Show CAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAAAAGAAAAGAA AAAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0224 a0002c0002t0001g0224	1	342	0.0029	211	c.20- others(226): Show c.20-3989_20-3988insTTCTTTCTTTTTTTCTTTTCTTTTCCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PDIA6_chr2_10778391_10817785	10806628	C C	CGAAAGAA others(204): Show CGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGGAAAAGAAAAGAAAAAAAGAAAGAA AGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0180 a0002c0002t0001g0180	1	342	0.0029	211	c.20- others(226): Show c.20-3989_20-3988insTTCTTTCTTTCTTTCTTTCTTTTTTTCTTT TCTTTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PDXK_chr21_43714129_43767299	43741295	G G	GGGCTCGC others(204): Show GGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGC TCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCG GGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGTTCGCGGGGG GGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCAGGGGGCTCG CGGGGGGCTGGC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0176 a0001c0001t0007g0176	1	358	0.0028	211	c.143 others(226): Show c.143-370_143-369insCTCGCGGGGGGCTCGCGGGGGGCTCGCGGG GGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGG CTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGC GGGGGGGTTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGG GGGGCTCAGGGGGCTCGCGGGGGGCTGGCGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PGAM5_chr12_132705842_132727734	132718452	G G	GGTCCTGG others(204): Show GGTCCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCC TGAGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGG GTGGGGGGTCCTGGGTGGGGGGTCCTGGGTGGGGGGGTCCTGGGTGGGGT GCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTC CTGGGTGGGGGT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0160 a0002c0003t0007g0160	1	394	0.0025	211	c.719 others(226): Show c.719+345_719+346insGTGTCCTGGGTGGGGTGCGTGCTGGGTGGG GGGTCCTGAGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCG TGCTGGGTGGGGGGTCCTGGGTGGGGGGTCCTGGGTGGGGGGGTCCTGGG TGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGG GGGGTCCTGGGTGGGGGTGTCCTGGGTGGGG	PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
PHF3_chr6_63630802_63731011	63688231	C C	CCCCCCTC others(204): Show CCCCCCTCCCCTCCCCATCCCCTCCCACTCCGCTCGCCTCCCCTCCCCCT CCCCCGTCCCTCTCCCATCCCCCTCCCCTCTCCCATCCCCCTCCCATCCC CCTCCCCTCTCCCATCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCT CCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTTCCCCTC CCCTCCCCCCTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01070.hp2 HG01071.hp2 HG00140.hp2 HG01070.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0235 a0001c0001t0002g0010 a0001c0001t0002g0235	3	320	0.0094	211	c.218 others(230): Show c.2189+2324_2189+2325insCTCCCCTCCCCATCCCCTCCCACTCC GCTCGCCTCCCCTCCCCCTCCCCCGTCCCTCTCCCATCCCCCTCCCCTCT CCCATCCCCCTCCCATCCCCCTCCCCTCTCCCATCCCCCTCCCCCTCCCC TCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCT CCCCTCCCCCCTTCCCCTCCCCTCCCCCCTTCCCC	PHF3	ENSG00000118482.12	transcript	ENST00000262043.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
PIAS4_chr19_4002736_4044386	4035959	A A	ACACCCGC others(204): Show ACACCCGCACACATCCATACAGTCCATACCATAACACACACACCCGCACA CATCCATACAGTCCACACCATAACACACACACCCGCACACATCCATACAG TCCACACCATAACACACACACCCGCACACATCCATCCAGTCCACACCATA ACACACACACCCGCACACATCCATACAGTCCACACCATAACACACACACA CCCGCACACATC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01256.hp2 HG01515.hp1 others(4): Show HG01192.hp2 HG01256.hp2 HG01515.hp1 HG02602.hp2 HG02738.hp1 HG03491.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 a0001c0001 a0001c0003 a0001c0007	a0001c0001t0001 a0001c0003t0001 a0001c0007t0001 a0001c0001t0001 a0001c0003t0001 a0001c0007t0001	a0001c0001t0001g0099 a0001c0001t0001g0108 a0001c0003t0001g0217 others(4): Show a0001c0001t0001g0099 a0001c0001t0001g0108 a0001c0003t0001g0217 a0001c0007t0001g0024 a0001c0007t0001g0230 a0001c0007t0001g0235 a0001c0007t0001g0279	7	334	0.0210	211	c.114 others(230): Show c.1143-1413_1143-1412insCCCGCACACATCCATACAGTCCATAC CATAACACACACACCCGCACACATCCATACAGTCCACACCATAACACACA CACCCGCACACATCCATACAGTCCACACCATAACACACACACCCGCACAC ATCCATCCAGTCCACACCATAACACACACACCCGCACACATCCATACAGT CCACACCATAACACACACACACCCGCACACATCCA	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PIM1_chr6_37165152_37180428	37179403	A A	AATTATAT others(204): Show AATTATATATTATATATATAATATATAATATATAATATATATTATATATT ATATATTATATATTATACATAAAATATATATAATATATATTATATATAAT ATATATTATATATATTATATATTATATATTATATATAATATATATTATAT ATAATATATATTATATATATTATATATTATATATTATATATAATATATAA TATATATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00621.hp2 HG01257.hp1 others(7): Show HG00423.hp1 HG00621.hp2 HG01257.hp1 HG01433.hp2 HG01978.hp1 HG02148.hp1 NA18947.hp1 NA18962.hp1 NA18974.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0023 a0001c0001t0001 a0001c0001t0023	a0001c0001t0001g0001 a0001c0001t0023g0001 a0001c0001t0001g0001 a0001c0001t0023g0001	10	414	0.0242	211	c.53 others(222): Show c.5312_*5313insATTATATATTATATATATAATATATAATATATAA TATATATTATATATTATATATTATATATTATACATAAAATATATATAATA TATATTATATATAATATATATTATATATATTATATATTATATATTATATA TAATATATATTATATATAATATATATTATATATATTATATATTATATATT ATATATAATATATAATATATATTATAT	PIM1	ENSG00000137193.14	transcript	ENST00000373509.6	protein_coding		3976		chr6	TogoVar
PIM1_chr6_37165152_37180428	37179403	A A	AATTATAT others(204): Show AATTATATATTATATATATAATATATAATATATAATATATATTATATATT ATATATTATATATTATACATAAAATATATATAATATATATTATATATAAT ATATATTATATATATTATATATTATATATTATATATAATATATATTATAT ATAGTATATATTATATATATTATATTTTATATATTATATATAATATATAA TATATATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	414	0.0024	211	c.53 others(222): Show c.5312_*5313insATTATATATTATATATATAATATATAATATATAA TATATATTATATATTATATATTATATATTATACATAAAATATATATAATA TATATTATATATAATATATATTATATATATTATATATTATATATTATATA TAATATATATTATATATAGTATATATTATATATATTATATTTTATATATT ATATATAATATATAATATATATTATAT	PIM1	ENSG00000137193.14	transcript	ENST00000373509.6	protein_coding		3976		chr6	TogoVar
PIM1_chr6_37165152_37180428	37179403	A A	AATTATAT others(204): Show AATTATATATTATATATATAATATATAATATATAATATATATTATATATT ATATATTATATATTATACATAAAATATATATAATATATATTATATATAAT ATATATTATATATATTATATATTATATATTATATATTATATATATTATAT ATAATATATATTATATATATTATATATTATATATTATATATAATATATAA TATATATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	414	0.0024	211	c.53 others(222): Show c.5312_*5313insATTATATATTATATATATAATATATAATATATAA TATATATTATATATTATATATTATATATTATACATAAAATATATATAATA TATATTATATATAATATATATTATATATATTATATATTATATATTATATA TTATATATATTATATATAATATATATTATATATATTATATATTATATATT ATATATAATATATAATATATATTATAT	PIM1	ENSG00000137193.14	transcript	ENST00000373509.6	protein_coding		3976		chr6	TogoVar
PIWIL1_chr12_130332887_130377637	130338277	G G	GGATGCAG others(204): Show GGATGCAGGAGCCAGATGCGGGTGGCGAGGTCGCAGGTGCGGGAGATGCA GGAGCCGGGTGCGGGGTCGAGGTCCCAGGTGCGGGGGATGCAGGAGCCGG GTGCGGGGTCGAGGTCCCAGGTGCGGGGGATGCAGGAGCCAGATGCGGTG GCGAGGTCCCAGGTGCGGGAGATGCAGGAGCCGGGTGCGGGGTCGAGGTC CCAGGTGCGGGA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0012 a0002c0003t0012	a0002c0003t0012g0243 a0002c0003t0012g0243	1	425	0.0024	211	c.-13 others(226): Show c.-13+143_-13+144insAGATGCGGGTGGCGAGGTCGCAGGTGCGGG AGATGCAGGAGCCGGGTGCGGGGTCGAGGTCCCAGGTGCGGGGGATGCAG GAGCCGGGTGCGGGGTCGAGGTCCCAGGTGCGGGGGATGCAGGAGCCAGA TGCGGTGGCGAGGTCCCAGGTGCGGGAGATGCAGGAGCCGGGTGCGGGGT CGAGGTCCCAGGTGCGGGAGATGCAGGAGCC	PIWIL1	ENSG00000125207.7	transcript	ENST00000245255.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
PIWIL1_chr12_130332887_130377637	130338277	G G	GGATGCAG others(204): Show GGATGCAGGAGCCAGATGCGGTGGCGAGGTCGCAGGTGCGGGAGATGCAG GAGCCGGGTGCGGGGTCGAGGTCCCAGGTGCGGGGGATGCAGGAGCCGGG TGCGGGGTCGAGGTCCCAGGTGCGGGGGATGCAGGAGCCAGATGCGGGTG GCGAGGTCCCAGGTGCGGGAGATGCAGGAGCCGGGTGCGGGGTCGAGGTC CCAGGTGCGGGA	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0012 a0002c0003t0012	a0002c0003t0012g0247 a0002c0003t0012g0247	1	425	0.0024	211	c.-13 others(226): Show c.-13+143_-13+144insAGATGCGGTGGCGAGGTCGCAGGTGCGGGA GATGCAGGAGCCGGGTGCGGGGTCGAGGTCCCAGGTGCGGGGGATGCAGG AGCCGGGTGCGGGGTCGAGGTCCCAGGTGCGGGGGATGCAGGAGCCAGAT GCGGGTGGCGAGGTCCCAGGTGCGGGAGATGCAGGAGCCGGGTGCGGGGT CGAGGTCCCAGGTGCGGGAGATGCAGGAGCC	PIWIL1	ENSG00000125207.7	transcript	ENST00000245255.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
PIWIL1_chr12_130332887_130377637	130338426	G G	GCGAGGTC others(204): Show GCGAGGTCCCAGGTGCGGGGGATGCAGGAGCCGGGTGCGGGGGCGAGGTC CCAGGTGCGGGAGATGCAGGAGCCGGGTGCGGGGGTCGAGGTCCCAGGTG CGGGGGATGCAGGAGCCAGATGCGGTGGCGAGGTCCCAGGTGCGGGAGAT GCAGGAGCCGGGTGCGGGGTCGAGGTCCCAGGTGCGGGAGATGCAGGAGC CGGGTGCGGGGT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0303 a0001c0001t0004g0303	1	425	0.0024	211	c.-13 others(226): Show c.-13+298_-13+299insGGATGCAGGAGCCGGGTGCGGGGGCGAGGT CCCAGGTGCGGGAGATGCAGGAGCCGGGTGCGGGGGTCGAGGTCCCAGGT GCGGGGGATGCAGGAGCCAGATGCGGTGGCGAGGTCCCAGGTGCGGGAGA TGCAGGAGCCGGGTGCGGGGTCGAGGTCCCAGGTGCGGGAGATGCAGGAG CCGGGTGCGGGGTCGAGGTCCCAGGTGCGGG	PIWIL1	ENSG00000125207.7	transcript	ENST00000245255.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
PPP3CA_chr4_101018418_101352526	101106456	A A	AGAAAGAA others(204): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAAGAAA GAAAGAAGAGAG	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	192	0.0052	211	c.384 others(228): Show c.384+2497_384+2498insCTCTCTTCTTTCTTTCTTTCTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	PPP3CA	ENSG00000138814.17	transcript	ENST00000394854.8	protein_coding	3/13			chr4	TogoVar
PRDM16_chr1_3064203_3443621	3176062	A A	ACCATCCA others(204): Show ACCATCCATCCATCCATCCATCCACCCATTGATTCACCTACCCATCCATT CATCCATTCCTTCATTAACCCATCCATGCACTCATTCATCTATCCATCCA TCCATCCATCTATCCATCCATCCATTTACCCATCTATCCCCTCATCTATC CACCAAGCCATTCATCCACCTATCTATGCATTCATCCACCATCTGTCCAT CCATCCATCCAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA19091.hp2 HG02615.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0021 a0001c0001 a0001c0021	a0001c0001t0001 a0001c0021t0049 a0001c0001t0001 a0001c0021t0049	a0001c0001t0001g0119 a0001c0021t0049g0023 a0001c0001t0001g0119 a0001c0021t0049g0023	2	210	0.0095	211	c.38- others(226): Show c.38-9954_38-9953insTATCCATCCATCCATTTACCCATCTATCCC CTCATCTATCCACCAAGCCATTCATCCACCTATCTATGCATTCATCCACC ATCTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACCCAT TGATTCACCTACCCATCCATTCATCCATTCCTTCATTAACCCATCCATGC ACTCATTCATCTATCCATCCATCCATCCATC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKN_chr6_161342417_162732766	161875122	G G	GTATATAA others(204): Show GTATATAATATATTTATATACAGTATATATACTGTATATATATACAGTAT ATAATATATATATTATATATATATTATATATAATATATATAAAGTATATA TATTATATATAATATATATAAAGTATATATATTATATATAATATATATAA AGTATATATATTATATATAATATATATAAAGTATATATATTATATATAAT ATATATAAAGTA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0002 a0001c0001t0005g0002	1	32	0.0313	211	c.735 others(230): Show c.735-89215_735-89214insTACTTTATATATATTATATATAATAT ATATACTTTATATATATTATATATAATATATATACTTTATATATATTATA TATAATATATATACTTTATATATATTATATATAATATATATACTTTATAT ATATTATATATAATATATATATAATATATATATTATATACTGTATATATA TACAGTATATATACTGTATATAAATATATTATATA	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	6/11			chr6	TogoVar
PRR5L_chr11_36291288_36470204	36351047	T T	TTTATATG others(204): Show TTTATATGTATTTTATATATAAATATATATTTATAAATATATGTATTTTA TATATAAATATATATTTATAAATATATGTATTTTATATATAAATATATAT TTATAAATATATGTATTTTATATATAAATATATATTTATAAATATATGTA TTTTATATATAAATATATATTTATAAATATATGTATTTTATATATAAATA TATATTTATAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01081.hp2 HG01255.hp2 others(6): Show HG00642.hp1 HG01081.hp2 HG01255.hp2 HG01496.hp1 HG01884.hp2 HG02145.hp1 HG02451.hp1 HG02615.hp1 HG03516.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0013 a0002c0004 a0002c0005 a0003c0006	a0001c0001t0006 a0001c0002t0001 a0001c0003t0003 others(4): Show a0001c0001t0006 a0001c0002t0001 a0001c0003t0003 a0001c0013t0013 a0002c0004t0003 a0002c0005t0005 a0003c0006t0001	a0001c0001t0006g0036 a0001c0002t0001g0165 a0001c0003t0003g0256 others(6): Show a0001c0001t0006g0036 a0001c0002t0001g0165 a0001c0003t0003g0256 a0001c0013t0013g0262 a0002c0004t0003g0258 a0002c0005t0005g0032 a0002c0005t0005g0033 a0003c0006t0001g0186 a0003c0006t0001g0191	9	272	0.0331	211	c.-12 others(232): Show c.-125-49949_-125-49948insTATATGTATTTTATATATAAATAT ATATTTATAAATATATGTATTTTATATATAAATATATATTTATAAATATA TGTATTTTATATATAAATATATATTTATAAATATATGTATTTTATATATA AATATATATTTATAAATATATGTATTTTATATATAAATATATATTTATAA ATATATGTATTTTATATATAAATATATATTTATAAAT	PRR5L	ENSG00000135362.14	transcript	ENST00000530639.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
PTPRG_chr3_61556571_62302609	61885680	T T	TCCTCTCC others(204): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCACTCCTCTCCACTCCTCCCCTC CCCTCCCCTCCCCTCCCCTCTCCTCTCCTCTCCTCTCCTCTGCTCCCCTC TCCTCCCCCCCTCCCCTCCCCTCCCCTCCTGTCCCCCTCCCCTCTCCCCT CCCCCTCCCCCTACCCTCACCCTCCCTCCTCCCCCCTCCCCTCCCCCTCC CTCCTCCCCTCC	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA19087.hp2 NA18998.hp2 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0002 a0001c0001t0001 a0002c0003t0002	a0001c0001t0001g0045 a0002c0003t0002g0052 a0001c0001t0001g0045 a0002c0003t0002g0052	2	94	0.0213	211	c.191 others(232): Show c.191-103924_191-103923insCTCTCCACTCCTCTCCACTCCTCC CCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCCTCTCCTCTCCTCTGCTCC CCTCTCCTCCCCCCCTCCCCTCCCCTCCCCTCCTGTCCCCCTCCCCTCTC CCCTCCCCCTCCCCCTACCCTCACCCTCCCTCCTCCCCCCTCCCCTCCCC CTCCCTCCTCCCCTCCCCTCTCCTCTCCTCTCCTCTC	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	61885680	T T	TCCTCTCC others(204): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCACTCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCTCCTCTCCTCTCCTCTCCTCTGCTCCCCTC TCCTCCCCCCCTCCCCTCCCCTCCCCTCCTGTCCCCCTCCCCTCTCCCCT CCCCCTCCCCCTACCCTCACCCTCCCTCCTCCCCCCTCCCCTCCCCCTCC CTCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03453.hp1 NA19030.hp2 HG03098.hp2 HG03453.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0065 a0001c0001t0002g0089 a0001c0001t0005g0025 a0001c0001t0002g0065 a0001c0001t0002g0089 a0001c0001t0005g0025	3	94	0.0319	211	c.191 others(232): Show c.191-103924_191-103923insCTCTCCTCTCCACTCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCCTCTCCTCTCCTCTGCTCC CCTCTCCTCCCCCCCTCCCCTCCCCTCCCCTCCTGTCCCCCTCCCCTCTC CCCTCCCCCTCCCCCTACCCTCACCCTCCCTCCTCCCCCCTCCCCTCCCC CTCCCTCCTCCCCTCCCCTCTCCTCTCCTCTCCTCTC	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	61885680	T T	TCCTCTCC others(204): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCACTCCTCCCCTC CCCTCCCCTCCCCTCCCCTCTCCTCTCCTCTCCTCTCCTCTGCTCCCCTC TCCTCCCCCCCTCCCCTCCCCTCCCCTCCTGTCCCCCTCCCCTCTCCCCT CCCCCTCCCCCTACCCTCACCCTCCCTCCTCCCCCCTCCCCTCCCCCTCC CTCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02683.hp2 NA21309.hp2 HG02683.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0003 a0001c0001t0001 a0003c0004t0003	a0001c0001t0001g0033 a0003c0004t0003g0008 a0001c0001t0001g0033 a0003c0004t0003g0008	2	94	0.0213	211	c.191 others(232): Show c.191-103924_191-103923insCTCTCCTCTCCTCTCCACTCCTCC CCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCCTCTCCTCTCCTCTGCTCC CCTCTCCTCCCCCCCTCCCCTCCCCTCCCCTCCTGTCCCCCTCCCCTCTC CCCTCCCCCTCCCCCTACCCTCACCCTCCCTCCTCCCCCCTCCCCTCCCC CTCCCTCCTCCCCTCCCCTCTCCTCTCCTCTCCTCTC	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
RAB3C_chr5_58578075_58864394	58597109	T T	TATATATA others(204): Show TATATATAATACATAATATATATTATATGATATATATAATACATTATATA TTATTATATAATATATATTATGTATTATATATATTATATAATATATATTA TGTATTATATTATTATATAATATATATGTATATATTATATAATATAATGT ATAATATATAATACATTATATATTATATAATATAGATAATACATTATATA TATTATATAATA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0086 a0001c0001t0005g0086	1	220	0.0046	211	c.24+ others(228): Show c.24+13898_24+13899insTTATATGATATATATAATACATTATATA TTATTATATAATATATATTATGTATTATATATATTATATAATATATATTA TGTATTATATTATTATATAATATATATGTATATATTATATAATATAATGT ATAATATATAATACATTATATATTATATAATATAGATAATACATTATATA TATTATATAATAATATATAATACATAATATATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
RGPD3_chr2_106398406_106473413	106466807	G G	GGCCGCCG others(204): Show GGCCGCCGCCTCAACAGAGCGCGCCAGGGAGCAGCGCCCGTCGGGAGCCA TGACGCCTGAGCCATCGAGGCCGCCGCCGGGCCGGGTCGAGGCCGCCGCC TCCACAGAGCGCGCCAGGGAGCAGCGCCCGTCGGGAGCCATGACGCCTGA GCCATCGAGGCCGCCGCAGGGCCAGGTCGAGGCTGCCGCCGCCTGGCCAG GTCGAGGCCGCC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0006 a0003c0003t0006	a0003c0003t0006g0183 a0003c0003t0006g0183	1	382	0.0026	211	c.72+ others(226): Show c.72+1199_72+1409dupGGCGGCCTCGACCTGGCCAGGCGGCGGCAG CCTCGACCTGGCCCTGCGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCC GACGGGCGCTGCTCCCTGGCGCGCTCTGTGGAGGCGGCGGCCTCGACCCG GCCCGGCGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCT GCTCCCTGGCGCGCTCTGTTGAGGCGGCGGC	RGPD3	ENSG00000153165.19	transcript	ENST00000409886.4	protein_coding	1/22			chr2	TogoVar
RNASE10_chr14_20500537_20518884	20505282	C C	CCCTCTCC others(204): Show CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	396	0.0025	211	c.-74 others(220): Show c.-743_-742insCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCT	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding		254		chr14	TogoVar
RNF223_chr1_1065967_1079306	1076404	G G	GGAGGCTG others(204): Show GGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGA CTCCGTGGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGGAGGCTG AGGCCTACGGGGGACTCCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCG TGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGCTGAGTCTACGG GGACTCCGTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	324	0.0031	211	c.-23 others(222): Show c.-2399_-2398insGGCACGGAGTCCCCGTAGACTCAGCTCCCCCCAC GGAGTCCCCGTAGCCTCAGCCTCCCCCACGGAGTCCCCGTAGCCTCAGCC TCCCCCCACGGGAGTCCCCCGTAGGCCTCAGCCTCCCCCCCACGGAGTCC CCGTAGCCTCAGCCTCCCCCCCACGGAGTCCCCGTAGCCTCAGCCTCCCC CCACGGAGTCCCCGTAGCCTCAGCCTC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		2099		chr1	TogoVar
RPA3_chr7_7631518_7723607	7679342	T T	TACATGTT others(204): Show TACATGTTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAG TTTATAGATAATATATATTTATATATTTAATTTATAGATAAATATATATT TATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGA TAAATATATATTTATATTTAATTTATAGATAAATATATATTTATATATTT AATTTATAGATA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0086 a0001c0001t0002g0086	1	308	0.0033	211	c.-75 others(230): Show c.-758+6487_-758+6488insTATCTATAAATTAAATATATAAATAT ATATTTATCTATAAATTAAATATAAATATATATTTATCTATAAATTAAAT ATATAAATATATATTTATCTATAAATTAAATATATAAATATATATTTATC TATAAATTAAATATATAAATATATATTATCTATAAACTAAATATATAAAT ATATATTTATCTATAAACTAAATATATAAACATGT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPA3_chr7_7631518_7723607	7679372	T T	TACATGTT others(204): Show TACATGTTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAG TTTATAGATAATATATATTTATATATTTAATTTATAGATAAATATATATT TATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGA TAAATATATATTTATATTTAATTTATAGATAAATATATATTTATATATTT AATTTATAGATA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02523.hp2 NA18952.hp2 others(1): Show HG01975.hp2 HG02523.hp2 NA18952.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0094 others(1): Show a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0094 a0001c0001t0002g0091	4	308	0.0130	211	c.-75 others(230): Show c.-758+6457_-758+6458insTATCTATAAATTAAATATATAAATAT ATATTTATCTATAAATTAAATATAAATATATATTTATCTATAAATTAAAT ATATAAATATATATTTATCTATAAATTAAATATATAAATATATATTTATC TATAAATTAAATATATAAATATATATTATCTATAAACTAAATATATAAAT ATATATTTATCTATAAACTAAATATATAAACATGT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RTN1_chr14_59590983_59875776	59750565	T T	TATATATA others(204): Show TATATATATATCTATAATATATAATATATCTATAATATATAATATATCTA TAATATATAATATATCTATAATATATATATTATAGATATAATATATAATA TATTATATATAATATATAATATATTATATATAATATATTATATATTATAT CTATAATATATAATATATTATATCTATAATATATTATATGTAATATATAT GTTATATCTATA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	172	0.0058	211	c.242 others(228): Show c.242-4085_242-4084insTATAGATATAACATATATATTACATATA ATATATTATAGATATAATATATTATATATTATAGATATAATATATAATAT ATTATATATAATATATTATATATTATATATAATATATTATATATTATATC TATAATATATATATTATAGATATATTATATATTATAGATATATTATATAT TATAGATATATTATATATTATAGATATATATAT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RTP5_chr2_241864729_241878823	241874948	G G	GAAATGCA others(204): Show GAAATGCAGGGACGGGGGTCCTAGGAGAAACCCCAATCCAGGTCTCAGGG GCCAAAATGCAGGGACGGGGGTCCCAGGAGAAACCCCAATCCAGGTCTCA GGGCCCAACTGCAGGGACGAGGGTCCCAGGGGAAACCCCAATCCAGGGCC TCGGGGGCCAACTGCAGGGACAGGGGTCCCAGGAGAAACCCCAATCCAGG TCTCAGGGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0001 a0003c0003t0003g0001	1	365	0.0027	211	c.16 others(222): Show c.1674_*1675insAAATGCAGGGACGGGGGTCCTAGGAGAAACCCCA ATCCAGGTCTCAGGGGCCAAAATGCAGGGACGGGGGTCCCAGGAGAAACC CCAATCCAGGTCTCAGGGCCCAACTGCAGGGACGAGGGTCCCAGGGGAAA CCCCAATCCAGGGCCTCGGGGGCCAACTGCAGGGACAGGGGTCCCAGGAG AAACCCCAATCCAGGTCTCAGGGGCCA	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		1126		chr2	TogoVar
RTP5_chr2_241864729_241878823	241875099	G G	GGGGCCGA others(204): Show GGGGCCGAAATGCAGGGACGGGGGTCCCAGGAGAAACCCCAATCCAGGTC TCAGGGGCCGAAATGCAGGGACGGGGGTCCTAGGAGAAACCCCAATCCAG GTCTCAGGGGCCGAAATGCAGGGACGGGGGTCCTAGGAGAAACCCCAATC CAGGTCTCAGGGGCCAAAATGCAGGGACGGGGGTCCCAGGAGAAACCCCA ATCCAGGTCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	365	0.0027	211	c.18 others(222): Show c.1825_*1826insGGGCCGAAATGCAGGGACGGGGGTCCCAGGAGAA ACCCCAATCCAGGTCTCAGGGGCCGAAATGCAGGGACGGGGGTCCTAGGA GAAACCCCAATCCAGGTCTCAGGGGCCGAAATGCAGGGACGGGGGTCCTA GGAGAAACCCCAATCCAGGTCTCAGGGGCCAAAATGCAGGGACGGGGGTC CCAGGAGAAACCCCAATCCAGGTCTCA	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		1277		chr2	TogoVar
RUSC2_chr9_35485111_35566895	35495045	A A	ATATATTA others(204): Show ATATATTATATATAGTATATATTATATATACTATAGTATATATTATATAT AGTATATATTATATATACTATAGTATATATAATATATACTATATATAATA TATACTATAGTATATATTATATATACTATAGTATATATAATATTATATAT ATATACTATAGTATATATATATTATATACTATAGTATATATTATATATAC TATAGTATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0305 a0001c0016t0001g0305	1	322	0.0031	211	c.-93 others(228): Show c.-93+4878_-93+4879insTATATATAGTATATATTATATATACTAT AGTATATATTATATATAGTATATATTATATATACTATAGTATATATAATA TATACTATATATAATATATACTATAGTATATATTATATATACTATAGTAT ATATAATATTATATATATATACTATAGTATATATATATTATATACTATAG TATATATTATATATACTATAGTATATATTATAT	RUSC2	ENSG00000198853.12	transcript	ENST00000361226.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
SFI1_chr22_31491536_31623588	31601973	T T	TTTTTTTT others(204): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCG GCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTT TTTGTATTTTTA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03139.hp2 HG02818.hp2 HG03139.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0316 a0006c0008t0001g0320 a0006c0008t0001g0316 a0006c0008t0001g0320	2	322	0.0062	211	c.154 others(228): Show c.1545-239_1545-238insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCG GACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCC GCCACCGCGCCCGGCTAATTTTTTGTATTTTTA	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	15/32			chr22	TogoVar

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