Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
P2RY8_chrX_1457581_1542185	1468904	T T	TCCCCTCT others(203): Show TCCCCTCTCCCCTCTCCCCTCTCTCCTCTCCCCTCTCCCCTCCCCTTCCC TCTCCCCTCTCCCCTCCCCTTCCCTCTCCCCTCTCCCCTCCCCTTCCCTC TCCCCTCTCCCCTCCCCTTCCCTCTCCCCTCTCCCCTCCCCTTCCCTCTC CCCTCTCCCCTCCCCTTCCCTCTCCCCTCTCCCCTCCCCTTCCCTCTCCC CTCTCCCCTCC	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA19056.hp1 NA18970.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0095 a0001c0001t0001g0023 a0001c0001t0001g0095	2	114	0.0175	210	c.-24 others(227): Show c.-24-2323_-24-2322insGGAGGGGAGAGGGGAGAGGGAAGGGGAG GGGAGAGGGGAGAGGGAAGGGGAGGGGAGAGGGGAGAGGGAAGGGGAGGG GAGAGGGGAGAGGGAAGGGGAGGGGAGAGGGGAGAGGGAAGGGGAGGGGA GAGGGGAGAGGGAAGGGGAGGGGAGAGGGGAGAGGGAAGGGGAGGGGAGA GGGGAGAGGAGAGAGGGGAGAGGGGAGAGGGG	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
PAK1_chr11_77317017_77479094	77332345	G G	GGAAAGGG others(203): Show GGAAAGGGAAGGGAAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGGGAG GGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGG GGGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGAGGGGGGAGGGGAGG GGGAGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAAGGA AGGGAAGGGAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG00099.hp2 HG00639.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0024 a0001c0002t0008g0025 a0001c0002t0008g0024 a0001c0002t0008g0025	2	302	0.0066	210	c.155 others(227): Show c.1551+384_1551+385insTTCCCTTCCCTTCCTTCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCC CTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCCT CCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTC CCCTCCCCTCCCCTCCCCTTCCCTTCCCTTTC	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	14/14			chr11	TogoVar
PAK2_chr3_196734857_196837647	196811335	C C	CCCTCCCC others(203): Show CCCTCCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCTTCCCTTCCTTT CCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTTCCCTTC CCTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTTCC TTTCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCT TCCCTTCCCTT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG04184.hp1 NA18970.hp2 HG02165.hp2 HG04184.hp1 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0002g0094 a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0002g0094	3	178	0.0169	210	c.773 others(225): Show c.773+685_773+686insCCCCTCCCTTCCCTCCCTCCCCTCCCTCCC TTCCTTCCCTTCCTTTCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCT CCCTTCCCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCT CCCTTCCTTCCCTTCCTTTCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTC CCTTCCTTCCCTCCCTTCCCTTCCCTTCCT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PALD1_chr10_70473767_70573450	70554954	C C	CCCCTCCC others(203): Show CCCCTCCCCTCCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCCTCCCCT CCCCCTCCTCCCCTTCCTCCCCTCCCCCTCCTCCCCTTCCTCCCCTCCCC CCTCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCACTCCCCT TCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCC CCTCCCCTCCT	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA19079.hp1 NA18999.hp2 NA19079.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0032 a0002c0002t0004g0113 a0002c0002t0004g0032 a0002c0002t0004g0113	2	308	0.0065	210	c.226 others(229): Show c.2262+7511_2262+7512insTCCCCTCCCCCTCCTCCCCCTCCCCT CCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCTTCCTCCCCTCCCCCTC CTCCCCTTCCTCCCCTCCCCCCTCCTCCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCC CTCCACTCCCCTTCCCCTCCCCTCCCCTCCTCCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PARVB_chr22_44019302_44177939	44113517	A A	ACACAGAT others(203): Show ACACAGATACATTGTTACTAACTAAGGCCCTGCACCAGCACAGATACATT GTTACTAAGGCCCTACACCAGCACAGATACATTGTTACTAAGGCCCTGCA CCAACACAGATACGTTGTTACTAAGTAAGGCCCTGCACCAACACAGATAC ATTGTTACTAAGTAAGGCCCTGCACCAGCACAGATACATTGTTACTAAGG CCCTACACCAG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0067 a0001c0002t0011g0067	1	332	0.0030	210	c.274 others(227): Show c.274-5485_274-5484insGCACAGATACATTGTTACTAAGGCCCTA CACCAGCACAGATACATTGTTACTAAGGCCCTGCACCAACACAGATACGT TGTTACTAAGTAAGGCCCTGCACCAACACAGATACATTGTTACTAAGTAA GGCCCTGCACCAGCACAGATACATTGTTACTAAGGCCCTACACCAGCACA GATACATTGTTACTAACTAAGGCCCTGCACCA	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PASD1_chrX_151558675_151681739	151562909	G G	GGGGGGGC others(203): Show GGGGGGGCGGGGGGTCGGTGGTCCGGGCGGGGGCGGGGGGGCAGCTGGGG CGGGGGGCGGGGGGGGGCGGGGGGGGGCGGGGGGGCGGGGGGGGGCGGGG GGGGCGGGGGGGCGGGGGGGCGGGGGGGGGCGGGGGGGGCGGGGGGGCGG GGGGGCGGGGGGCGGGGGGGCGGGGGGGCGGGGGGCGGGGGGGCGGGGGG GCGGGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0001	a0001c0024t0001g0051 a0001c0024t0001g0051	1	221	0.0045	210	c.-95 others(219): Show c.-958_-957insGGGGGGCGGGGGGTCGGTGGTCCGGGCGGGGGCGGG GGGGCAGCTGGGGCGGGGGGCGGGGGGGGGCGGGGGGGGGCGGGGGGGCG GGGGGGGGCGGGGGGGGCGGGGGGGCGGGGGGGCGGGGGGGGGCGGGGGG GGCGGGGGGGCGGGGGGGCGGGGGGCGGGGGGGCGGGGGGGCGGGGGGCG GGGGGGCGGGGGGGCGGGGGGGGC	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding		765		chrX	TogoVar
PDCD6_chr5_266646_319974	318038	C C	CTTGCCCT others(203): Show CTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCCCCC CTCCACTCCCCCTCACCTCCCCCCCCTTTCCACCTCCCCCCTCCACCTCC CCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCTACA CCTCCCCCCTCACCCTCCACCTCCCGCCCTCACCCTCCACCTCCCCCCGC ACCCTGCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0064 a0001c0001t0003g0064	1	360	0.0028	210	c.35 others(221): Show c.3523_*3524insTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCA CCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCCTTTCCACCT CCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCT CACCTCCCCCCTACACCTCCCCCCTCACCCTCCACCTCCCGCCCTCACCC TCCACCTCCCCCCGCACCCTGCACCT	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3065		chr5	TogoVar
PDE4D_chr5_58964038_59898726	59200581	C C	CTACACGT others(203): Show CTACACGTATACATACACGTGTATGTACAGCTACACGTATACATACACGT GTATGTACAGCTACACGTATACATACACGTGTATGTACAGATACACGTAT ACATACACGTGTATGTACAGATACACGTATACATACACGTGTATGTACAG ATACACGTATACATACACGTGTATGTACAGATACACGTATACATACACGT GTATGTACAGA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	74	0.0135	210	c.648 others(227): Show c.648-7046_648-7045insTCTGTACATACACGTGTATGTATACGTG TATCTGTACATACACGTGTATGTATACGTGTATCTGTACATACACGTGTA TGTATACGTGTATCTGTACATACACGTGTATGTATACGTGTATCTGTACA TACACGTGTATGTATACGTGTAGCTGTACATACACGTGTATGTATACGTG TAGCTGTACATACACGTGTATGTATACGTGTA	PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	2/14			chr5	TogoVar
PDE4D_chr5_58964038_59898726	59200581	C C	CTACACGT others(203): Show CTACACGTATACATACACGTGTATGTACAGCTACACGTATACATACACGT GTATGTACAGCTACACGTATACATACACGTGTATGTACAGCTACACGTAT ACATACACGTGTATGTACAGATACACGTATACATACACGTGTATGTACAG ATACACGTATACATACACGTGTATGTACAGATACACGTATACATACACGT GTATGTACAGA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	74	0.0135	210	c.648 others(227): Show c.648-7046_648-7045insTCTGTACATACACGTGTATGTATACGTG TATCTGTACATACACGTGTATGTATACGTGTATCTGTACATACACGTGTA TGTATACGTGTATCTGTACATACACGTGTATGTATACGTGTAGCTGTACA TACACGTGTATGTATACGTGTAGCTGTACATACACGTGTATGTATACGTG TAGCTGTACATACACGTGTATGTATACGTGTA	PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	2/14			chr5	TogoVar
PDE4D_chr5_58964038_59898726	59200581	C C	CTACACGT others(203): Show CTACACGTATACATACACGTGTATGTACAGCTACACGTATACATACACGT GTATGTACAGCTACACGTATACATACACGTGTATGTACAGCTACACGTAT ACATACACGTGTATGTACAGCTACACGTATACATACACGTGTATGTACAG ATACACGTATACATACACGTGTATGTACAGATACACGTATACATACACGT GTATGTACAGA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0044	1	74	0.0135	210	c.648 others(227): Show c.648-7046_648-7045insTCTGTACATACACGTGTATGTATACGTG TATCTGTACATACACGTGTATGTATACGTGTATCTGTACATACACGTGTA TGTATACGTGTAGCTGTACATACACGTGTATGTATACGTGTAGCTGTACA TACACGTGTATGTATACGTGTAGCTGTACATACACGTGTATGTATACGTG TAGCTGTACATACACGTGTATGTATACGTGTA	PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	2/14			chr5	TogoVar
PDE4D_chr5_58964038_59898726	59200581	C C	CTACACGT others(203): Show CTACACGTATACATACACGTGTATGTACAGCTACACGTATACATACACGT GTATGTACAGCTACACGTATACATACACGTGTATGTACAGCTACACGTAT ACATACACGTGTATGTACAGCTACACGTATACATACACGTGTATGTACAG CTACACGTATACATACACGTGTATGTACAGATACACGTATACATACACGT GTATGTACAGA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	74	0.0135	210	c.648 others(227): Show c.648-7046_648-7045insTCTGTACATACACGTGTATGTATACGTG TATCTGTACATACACGTGTATGTATACGTGTAGCTGTACATACACGTGTA TGTATACGTGTAGCTGTACATACACGTGTATGTATACGTGTAGCTGTACA TACACGTGTATGTATACGTGTAGCTGTACATACACGTGTATGTATACGTG TAGCTGTACATACACGTGTATGTATACGTGTA	PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	2/14			chr5	TogoVar
PDGFC_chr4_156755454_156976799	156825575	T T	TGAAGAAG others(203): Show TGAAGAAGAAGAAGAAGAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGA AGGAGAAGAAGGAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAG GAGAAGGAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0184 a0001c0001t0016g0184	1	208	0.0048	210	c.315 others(229): Show c.315-14559_315-14558insCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTTCTCCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCT CCTTCTTCTCCTTCTTCTCTTCTTCTTCTTCTTC	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	2/5			chr4	TogoVar
PDIA6_chr2_10778391_10817785	10806628	C C	CGAAAGAA others(203): Show CGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGGAAAAGAAAAGAAAAAAAGAAAGAAA GAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0212 a0002c0002t0001g0212	1	342	0.0029	210	c.20- others(225): Show c.20-3989_20-3988insTTCTTTCTTTCTTTCTTTCTTTTTTTCTTT TCTTTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PDXK_chr21_43714129_43767299	43741350	G G	GGGGGGCT others(203): Show GGGGGGCTCGCGGGGGGCTCGCGGGGGGGTTCGCGGGGGGGCTCGCGGGG GGGCTCGCGGGGGGCTCGCGGGGGGGCTCAGGGGGCTCGCGGGGGGCTGG CGGGCTCGCGGGGGGCTCGCGGGGGGGTTCGCGGGGGGGCTCGCGGGGGG CTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTGGC GGGGGGCTGGC	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA19043.hp1 HG03130.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0079 a0001c0001t0007 a0001c0001t0079	a0001c0001t0007g0190 a0001c0001t0079g0114 a0001c0001t0007g0190 a0001c0001t0079g0114	2	358	0.0056	210	c.143 others(225): Show c.143-312_143-311insCTCGCGGGGGGCTCGCGGGGGGGTTCGCGG GGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCAGGGGGC TCGCGGGGGGCTGGCGGGCTCGCGGGGGGCTCGCGGGGGGGTTCGCGGGG GGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGCT CGCGGGGGGCTGGCGGGGGGCTGGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741372	C C	CGGGGGGC others(203): Show CGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGG GGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGC TCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGGCTCGC GGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGG GGGGGCTCGCG	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0028 a0001c0002t0003g0028	1	358	0.0028	210	c.143 others(225): Show c.143-287_143-286insCGCGGGGGGGCTCGCGGGGGGCTCGCGGGG GGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGC TGGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCG GGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGG GGGGCTCGCGGGGGGGCTCGCGGGGGGGCT	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PERM1_chr1_970198_987093	976943	C C	CCCCGGGA others(203): Show CCCCGGGAACCGCCTCCCGCTCCCCGCGCAACCCCGGGAACCGCCTGCCC CCACCGACCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAA CCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTCCCACGACCCCCAA TCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGAGAACCGCCTCCCA CGACCCCCAAT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03704.hp1 HG03239.hp2 HG03704.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0050 a0002c0002t0002g0050	2	408	0.0049	210	c.215 others(227): Show c.2150-320_2150-319insATTGGGGGTCGTGGGAGGCGGTTCTCGG GGTTGGCGGGGTGGTGGGAGGCGGTTCCCGGGATTGGGGGTCGTGGGAGG CGGTTCCCGGGGTTGGTCGGTGGGGGCAGGCGGTTCCCGGGGTTGGTCGG TGGGGGCAGGCGGTTCCCGGGGTTGGTCGGTGGGGGCAGGCGGTTCCCGG GGTTGCGCGGGGAGCGGGAGGCGGTTCCCGGG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PEX10_chr1_2398974_2417564	2401365	C C	CCCTCCTC others(203): Show CCCTCCTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTTCCCTCCCTCCTC CTCCCTCCTTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCCTTCTTCC TCCCTCCCTCCTCCCCTCCTCCCCCTCCTCCCTCCACCTCCCTCCCTCCC TCCTCCCCCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCCTCCTCCTT TCCTACCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0064 a0001c0001t0025g0064	1	358	0.0028	210	c.44 others(221): Show c.4400_*4401insAGGTGGTAGGAAAGGAGGAGGGAGGGAGGAGGAG GGAGGAAGGAGGGAGGAGGGGGGAGGAGGGAGGGAGGGAGGTGGAGGGAG GAGGGGGAGGAGGGGAGGAGGGAGGGAGGAAGAAGGGAGGAGGGAGGAGG AGGGAGGAGGAGGGAGGAAGGAGGGAGGAGGAGGGAGGGAAGGAGGGAGG AGGAGGGAGGAGGAGGGAGGAGGAGG	PEX10	ENSG00000157911.11	transcript	ENST00000447513.7	protein_coding		2608		chr1	TogoVar
PIGZ_chr3_196941356_196973833	196973810	G G	GCCCCGTC others(203): Show GCCCCGTCCGGGAGGTGAGGAGCGCCTCTGCCCGGCCCGGCCGCCCCTAC TGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGACGTG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCACCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0001 a0006c0013t0001	a0006c0013t0001g0259 a0006c0013t0001g0259	1	424	0.0024	210	c.-51 others(221): Show c.-5125_-5124insTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACGTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCCGGGCAG AGGCGCTCCTCACCTCCCGGACGGGG	PIGZ	ENSG00000119227.8	transcript	ENST00000412723.6	protein_coding		4978		chr3	TogoVar
PIGZ_chr3_196941356_196973833	196973810	G G	GCCCCGTC others(203): Show GCCCCGTCCGGGAGGTGAGGAGCGCCTCTGCCCGGCCCGGCTGCCCCTAC TGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGACGTG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCACCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00741.hp1 HG01123.hp2 others(17): Show HG00140.hp1 HG00741.hp1 HG01123.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01975.hp2 HG02027.hp2 HG02559.hp2 HG02698.hp2 HG03490.hp1 HG03669.hp1 HG03831.hp1 HG03927.hp2 HG03942.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 NA20905.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0004 a0001c0006 others(6): Show a0001c0001 a0001c0004 a0001c0006 a0001c0007 a0001c0012 a0001c0022 a0002c0002 a0002c0025 a0009c0024	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0006t0001 a0001c0007t0001 a0001c0012t0001 a0001c0022t0001 a0002c0002t0001 a0002c0002t0002 a0002c0025t0001 a0009c0024t0001	a0001c0001t0001g0175 a0001c0001t0001g0248 a0001c0001t0002g0264 others(15): Show a0001c0001t0001g0175 a0001c0001t0001g0248 a0001c0001t0002g0264 a0001c0001t0002g0342 a0001c0004t0001g0101 a0001c0004t0001g0255 a0001c0004t0001g0257 a0001c0004t0001g0260 a0001c0006t0001g0339 a0001c0007t0001g0258 a0001c0007t0001g0265 a0001c0012t0001g0037 a0001c0022t0001g0267 a0002c0002t0001g0343 a0002c0002t0002g0262 a0002c0025t0001g0263 a0009c0024t0001g0038 a0009c0024t0001g0251	20	424	0.0472	210	c.-51 others(221): Show c.-5125_-5124insTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACGTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAGCCGGGCCGGGCAG AGGCGCTCCTCACCTCCCGGACGGGG	PIGZ	ENSG00000119227.8	transcript	ENST00000412723.6	protein_coding		4978		chr3	TogoVar
PIGZ_chr3_196941356_196973833	196973810	G G	GCCCCGTC others(203): Show GCCCCGTCCGGGAGGTGAGGAGCGCCTCTGCCCGGCCCGGCTGCCCCTAC TGGGAAGTGAGGAGCGCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGACGTG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCACCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0004 a0004	a0004c0047 a0004c0047	a0004c0047t0001 a0004c0047t0001	a0004c0047t0001g0253 a0004c0047t0001g0253	1	424	0.0024	210	c.-51 others(221): Show c.-5125_-5124insTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACGTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGCGCTCCTCACTTCCCAGTAGGGGCAGCCGGGCCGGGCAG AGGCGCTCCTCACCTCCCGGACGGGG	PIGZ	ENSG00000119227.8	transcript	ENST00000412723.6	protein_coding		4978		chr3	TogoVar
PIWIL1_chr12_130332887_130377637	130338250	T T	TTGCGGGG others(203): Show TTGCGGGGTCGAGGTCCCAGGTGCGGGGGATGCAGGAGCCAGATGCGGTG GCGAGGTCGCAGGTGCGGGAGATGCAGGAGCCGGGTGCGGGGTCGAGGTC CCAGGTGCGGGGGATGCAGGAGCCAGATGCGGTGGCGAGGTCCCAGGTGC GGGAGATGCAGGAGCCGGGTGCGGGGTCGAGGTCCCAGGTGCGGGAGATG CAGGAGCCGGG	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0244 a0001c0001t0004g0244	1	425	0.0024	210	c.-13 others(225): Show c.-13+111_-13+112insTCGAGGTCCCAGGTGCGGGGGATGCAGGAG CCAGATGCGGTGGCGAGGTCGCAGGTGCGGGAGATGCAGGAGCCGGGTGC GGGGTCGAGGTCCCAGGTGCGGGGGATGCAGGAGCCAGATGCGGTGGCGA GGTCCCAGGTGCGGGAGATGCAGGAGCCGGGTGCGGGGTCGAGGTCCCAG GTGCGGGAGATGCAGGAGCCGGGTGCGGGG	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(203): Show GGATGCAGGAGCCAGATGCGGTGGCGAGGTCGCAGGTGCGGGAGATGCAG GAGCCGGGTGCGGGGTCGAGGTCCCAGGTGCGGGGGATGCAGGAGCCGGG TGCGGGGTCGAGGTCCCAGGTGCGGGGGATGCAGGAGCCAGATGCGGTGG CGAGGTCCCAGGTGCGGGAGATGCAGGAGCCGGGTGCGGGGTCGAGGTCC CAGGTGCGGGA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01243.hp1 HG02083.hp2 others(18): Show HG00323.hp1 HG01243.hp1 HG02083.hp2 HG02135.hp2 HG02630.hp1 HG02738.hp1 HG03017.hp1 HG03654.hp2 HG03831.hp1 HG04115.hp2 HG04204.hp1 NA18953.hp1 NA18955.hp2 NA18965.hp2 NA18971.hp2 NA18981.hp1 NA18982.hp1 NA18992.hp1 NA19004.hp2 NA19007.hp1 NA19064.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0003 a0006c0015 a0001c0001 a0002c0003 a0006c0015	a0001c0001t0007 a0002c0003t0009 a0002c0003t0012 others(7): Show a0001c0001t0007 a0002c0003t0009 a0002c0003t0012 a0002c0003t0015 a0002c0003t0037 a0002c0003t0046 a0002c0003t0059 a0002c0003t0060 a0002c0003t0061 a0006c0015t0018	a0001c0001t0007g0330 a0002c0003t0009g0252 a0002c0003t0012g0304 others(17): Show a0001c0001t0007g0330 a0002c0003t0009g0252 a0002c0003t0012g0304 a0002c0003t0012g0305 a0002c0003t0012g0308 a0002c0003t0012g0312 a0002c0003t0012g0313 a0002c0003t0012g0317 a0002c0003t0015g0015 a0002c0003t0015g0303 a0002c0003t0015g0307 a0002c0003t0015g0314 a0002c0003t0015g0315 a0002c0003t0037g0015 a0002c0003t0037g0309 a0002c0003t0046g0311 a0002c0003t0059g0310 a0002c0003t0060g0306 a0002c0003t0061g0316 a0006c0015t0018g0253	21	425	0.0494	210	c.-13 others(225): Show c.-13+143_-13+144insAGATGCGGTGGCGAGGTCGCAGGTGCGGGA GATGCAGGAGCCGGGTGCGGGGTCGAGGTCCCAGGTGCGGGGGATGCAGG AGCCGGGTGCGGGGTCGAGGTCCCAGGTGCGGGGGATGCAGGAGCCAGAT GCGGTGGCGAGGTCCCAGGTGCGGGAGATGCAGGAGCCGGGTGCGGGGTC GAGGTCCCAGGTGCGGGAGATGCAGGAGCC	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(203): Show GCGAGGTCCCAGGTGCGGGGGATGCAGGAGCCGGGTGCGGGGGCGAGGTC CCAGGTGCGGGAGATGCAGGAGCCGGGTGCGGGGTCGAGGTCCCAGGTGC GGGGGATGCAGGAGCCAGATGCGGTGGCGAGGTCCCAGGTGCGGGAGATG CAGGAGCCGGGTGCGGGGTCGAGGTCCCAGGTGCGGGAGATGCAGGAGCC GGGTGCGGGGT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp1 HG00609.hp2 others(45): Show HG00438.hp2 HG00597.hp1 HG00609.hp2 HG00738.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01361.hp1 HG01433.hp2 HG01975.hp2 HG02015.hp2 HG02165.hp1 HG02523.hp2 HG02683.hp2 HG02698.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG03017.hp2 HG03654.hp1 HG04184.hp2 HG04228.hp1 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18956.hp1 NA18961.hp1 NA18962.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp2 NA18970.hp2 NA18972.hp1 NA18973.hp2 NA18977.hp2 NA18978.hp2 NA18979.hp2 NA18984.hp1 NA18994.hp1 NA18995.hp2 NA19004.hp1 NA19012.hp2 NA19057.hp2 NA19064.hp1 NA19068.hp2 NA19080.hp1 NA19085.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0007 a0001c0001t0019 others(7): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0029 a0001c0001t0051 a0001c0002t0007 a0001c0002t0022	a0001c0001t0004g0007 a0001c0001t0004g0039 a0001c0001t0004g0042 others(38): Show a0001c0001t0004g0007 a0001c0001t0004g0039 a0001c0001t0004g0042 a0001c0001t0004g0245 a0001c0001t0004g0247 a0001c0001t0004g0261 a0001c0001t0004g0262 a0001c0001t0004g0269 a0001c0001t0004g0272 a0001c0001t0004g0274 a0001c0001t0004g0276 a0001c0001t0004g0280 a0001c0001t0004g0283 a0001c0001t0004g0285 a0001c0001t0004g0290 a0001c0001t0004g0331 a0001c0001t0007g0007 a0001c0001t0007g0039 a0001c0001t0007g0248 a0001c0001t0007g0260 a0001c0001t0007g0264 a0001c0001t0007g0268 a0001c0001t0007g0270 a0001c0001t0007g0271 a0001c0001t0007g0275 a0001c0001t0007g0277 a0001c0001t0007g0278 a0001c0001t0007g0281 a0001c0001t0007g0286 a0001c0001t0007g0287 a0001c0001t0019g0003 a0001c0001t0019g0282 a0001c0001t0019g0288 a0001c0001t0020g0273 a0001c0001t0021g0003 a0001c0001t0021g0279 a0001c0001t0022g0007 a0001c0001t0029g0289 a0001c0001t0051g0284 a0001c0002t0007g0038 a0001c0002t0022g0038	48	425	0.1129	210	c.-13 others(225): Show c.-13+298_-13+299insGGATGCAGGAGCCGGGTGCGGGGGCGAGGT CCCAGGTGCGGGAGATGCAGGAGCCGGGTGCGGGGTCGAGGTCCCAGGTG CGGGGGATGCAGGAGCCAGATGCGGTGGCGAGGTCCCAGGTGCGGGAGAT GCAGGAGCCGGGTGCGGGGTCGAGGTCCCAGGTGCGGGAGATGCAGGAGC CGGGTGCGGGGTCGAGGTCCCAGGTGCGGG	PIWIL1	ENSG00000125207.7	transcript	ENST00000245255.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
PIWIL1_chr12_130332887_130377637	130338579	G G	GAGCCGGG others(203): Show GAGCCGGGTGCGGGGTCGAGGTCCCAGGTGCGGGAGATGCAGGAGCCGGG TGCGGGGGCGAGGTCCCAGGTGCGGGAGATGCAGGAGCCGGGTGCGGGGG CGAGGTCCCAGGTGCGGGAGATGCAGGAGCCGGGTGCGGGGTCGAGGTCC CAGGTGCGGGAGATGCAGGAGCCGGGTGCGGGGGCGAGGTCCCAGGTGCG GGAGATGCAGA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02027.hp2 HG02647.hp1 others(3): Show HG01261.hp2 HG02027.hp2 HG02647.hp1 NA18906.hp1 NA18986.hp2 NA19084.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0034 a0001c0002t0035 a0001c0002t0052 others(1): Show a0001c0002t0034 a0001c0002t0035 a0001c0002t0052 a0001c0002t0053	a0001c0002t0034g0094 a0001c0002t0034g0095 a0001c0002t0035g0093 others(3): Show a0001c0002t0034g0094 a0001c0002t0034g0095 a0001c0002t0035g0093 a0001c0002t0035g0098 a0001c0002t0052g0097 a0001c0002t0053g0096	6	425	0.0141	210	c.-13 others(225): Show c.-13+447_-13+448insTCGAGGTCCCAGGTGCGGGAGATGCAGGAG CCGGGTGCGGGGGCGAGGTCCCAGGTGCGGGAGATGCAGGAGCCGGGTGC GGGGGCGAGGTCCCAGGTGCGGGAGATGCAGGAGCCGGGTGCGGGGTCGA GGTCCCAGGTGCGGGAGATGCAGGAGCCGGGTGCGGGGGCGAGGTCCCAG GTGCGGGAGATGCAGAAGCCGGGTGCGGGG	PIWIL1	ENSG00000125207.7	transcript	ENST00000245255.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
PKHD1_chr6_51610299_52092613	51981304	G G	GCTCTCCC others(203): Show GCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCC	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0027 a0027	a0027c0069 a0027c0069	a0027c0069t0018 a0027c0069t0018	a0027c0069t0018g0092 a0027c0069t0018g0092	1	134	0.0075	210	c.575 others(231): Show c.5752-21279_5752-21278insGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51981371	C C	CTCTCCCT others(203): Show CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0005 a0006c0011t0005	a0006c0011t0005g0063 a0006c0011t0005g0063	1	134	0.0075	210	c.575 others(231): Show c.5752-21346_5752-21345insCGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKP3_chr11_389209_409908	402043	C C	CCCCGCTC others(203): Show CCCCGCTCACACCCGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCG CTCACCCCCGGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCT CACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACC CCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCACCCGGGA CCCCGCTCACA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0132 a0001c0002t0001g0132	1	216	0.0046	210	c.173 others(229): Show c.1738-1032_1738-1031insGCTCACACCCGACCCGCTCACCCCCG ACCCGCTCACCCCCGACCCGCTCACCCCCGGGCCCCGCTCACACCCGCCC CGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACACCCGACCCGCT CACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACCCCGGCCCCGCTCACA CCCGCCCCGCTCACCCGGGACCCCGCTCACACCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLEKHN1_chr1_961482_980865	976943	C C	CCCCGGGA others(203): Show CCCCGGGAACCGCCTCCCGCTCCCCGCGCAACCCCGGGAACCGCCTGCCC CCACCGACCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAA CCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTCCCACGACCCCCAA TCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGAGAACCGCCTCCCA CGACCCCCAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03704.hp2 HG03239.hp2 HG03704.hp2	a0002 a0019 a0002 a0019	a0002c0002 a0019c0036 a0002c0002 a0019c0036	a0002c0002t0002 a0019c0036t0002 a0002c0002t0002 a0019c0036t0002	a0002c0002t0002g0089 a0019c0036t0002g0003 a0002c0002t0002g0089 a0019c0036t0002g0003	2	422	0.0047	210	c.23 others(221): Show c.2368_*2369insCCCGGGAACCGCCTCCCGCTCCCCGCGCAACCCC GGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTGCCCCCACC GACCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCC TCCCACGACCCCCAATCCCGGGAACCGCCTCCCACCACCCCGCCAACCCC GAGAACCGCCTCCCACGACCCCCAAT	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1079		chr1	TogoVar
POLD1_chr19_50379347_50423014	50391089	C C	CTTCCAGA others(203): Show CTTCCAGACGGGGGTGGCGGCCAGGCAGAGGGGCTCCTGACTTCCCAGAC GGGGCAGCTGGGCAGAGGCTCCCCTCACCTCCCGGACGGGGTGGCTGGCC GAGCGGGGGCTGCCGGGCGGAGGGGCTCCTCACTGATCAGATGGGGCGGC TGGGCAGAGACGCTCCTCACCTCCCAGACGGGGTGGCGGTCGGGCAGAGA CACTCCTCAGA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0050 a0001c0013t0001g0050	1	336	0.0030	210	c.-2+ others(225): Show c.-2+6700_-2+6701insTCCAGACGGGGGTGGCGGCCAGGCAGAGGG GCTCCTGACTTCCCAGACGGGGCAGCTGGGCAGAGGCTCCCCTCACCTCC CGGACGGGGTGGCTGGCCGAGCGGGGGCTGCCGGGCGGAGGGGCTCCTCA CTGATCAGATGGGGCGGCTGGGCAGAGACGCTCCTCACCTCCCAGACGGG GTGGCGGTCGGGCAGAGACACTCCTCAGAT	POLD1	ENSG00000062822.16	transcript	ENST00000440232.7	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
PPP1R12B_chr1_202343699_202597702	202391570	T T	TTGAAGAT others(203): Show TTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAAATGAATTATC TTCAGGTGTACTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAA ATGAATTATCTTCAGGTGTACTGAAGATAAATGAATTATCTTCAGGTGTA CTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAAATGAATTATC TTCAGGTGTAC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG03098.hp1 HG01123.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0017 a0001c0001t0004 a0001c0001t0017	a0001c0001t0004g0145 a0001c0001t0017g0141 a0001c0001t0004g0145 a0001c0001t0017g0141	2	254	0.0079	210	c.292 others(229): Show c.292-24842_292-24633dupTTATCTTCAGGTGTACTGAAGATAAA TGAATTATCTTCAGGTGTACTGAAGATAAATGAATTATCTTCAGGTGTAC TGAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAAATGAATTATCT TCAGGTGTACTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAAA TGAATTATCTTCAGGTGTACTGAAGATAAATGAA	PPP1R12B	ENSG00000077157.23	transcript	ENST00000608999.6	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr1	TogoVar
PPP2R2D_chr10_131896008_131964834	131952757	G G	GGGGGGTT others(203): Show GGGGGGTTCACTGTCTTAGTGACTTGCGGGTGTGCAGGGGGTTCACTTAG CAGTGACTTGCGGGTGTGTGTGGGGGGTTCACTGTCTTAGCAGTGACTTG CAGGGGGGGTCCCTGTCTTATCAGTGACTTGCGGGTGTGTGTGGGGGGTT CACTGTCTTAGCAGTGACTTGCGGGGGGGGTCCCTGTCTTATCAGTGACT TGCGAGTGTGC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03453.hp1 HG02818.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0067 a0001c0001t0066 a0001c0001t0067	a0001c0001t0066g0172 a0001c0001t0067g0167 a0001c0001t0066g0172 a0001c0001t0067g0167	2	394	0.0051	210	c.108 others(229): Show c.1083-2856_1083-2855insGGGGGTTCACTGTCTTAGCAGTGACT TGCAGGGGGGGTCCCTGTCTTATCAGTGACTTGCGGGTGTGTGTGGGGGG TTCACTGTCTTAGCAGTGACTTGCGGGGGGGGTCCCTGTCTTATCAGTGA CTTGCGAGTGTGCGGGGGTTCACTGTCTTAGTGACTTGCGGGTGTGCAGG GGGTTCACTTAGCAGTGACTTGCGGGTGTGTGTG	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
PPP6R2_chr22_50338327_50450090	50397738	A A	AGTGTGAC others(203): Show AGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCA TCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGC TGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACT TGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGT TTTTCTCTGAG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0022	1	340	0.0029	210	c.227 others(227): Show c.227+3604_227+3605insTGTGACTTGGGATGGGGGCAGGGGGGCC TGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACT TGGGATGGGGGCGGGGGGGCTGTCCTCACCAGCCTTGTCATCTCTGAGCT TTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCAC CAGCCTTGTCATCTCTGAGTTTTTCTCTGAGG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PRDM16_chr1_3064203_3443621	3212589	C C	CCCCGCTC others(203): Show CCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCC CGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTACCGGCCCCCTCGCTGC GGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCAT CCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTC ACTGCGGTCCT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01243.hp2 HG02809.hp1 others(4): Show HG01123.hp2 HG01243.hp2 HG02809.hp1 HG03139.hp1 HG03225.hp1 HG03579.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0003 a0001c0001 a0001c0008 a0002c0003	a0001c0001t0028 a0001c0001t0056 a0001c0001t0072 others(4): Show a0001c0001t0028 a0001c0001t0056 a0001c0001t0072 a0001c0008t0085 a0002c0003t0004 a0002c0003t0007 a0002c0003t0029	a0001c0001t0028g0126 a0001c0001t0056g0204 a0001c0001t0072g0008 others(4): Show a0001c0001t0028g0126 a0001c0001t0056g0204 a0001c0001t0072g0008 a0001c0008t0085g0003 a0002c0003t0004g0068 a0002c0003t0007g0103 a0002c0003t0029g0106	7	210	0.0333	210	c.387 others(229): Show c.387+26143_387+26144insCGGTCCTCCCGCTCATCCTCCCGGCC CCCTCGCTGCGGTCCTCCCGCTCATCCTACCGGCCCCCTCGCTGCGGTCC TCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCC CGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCACTGC GGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3212589	C C	CCCCGCTC others(203): Show CCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCC CGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTACCGGCCCCCTCGCTGC GGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCAT CCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTC GCTGCGGTCCT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02922.hp2 HG02723.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0022 a0001c0001t0001 a0001c0001t0022	a0001c0001t0001g0203 a0001c0001t0022g0040 a0001c0001t0001g0203 a0001c0001t0022g0040	2	210	0.0095	210	c.387 others(229): Show c.387+26143_387+26144insCGGTCCTCCCGCTCATCCTCCCGGCC CCCTCGCTGCGGTCCTCCCGCTCATCCTACCGGCCCCCTCGCTGCGGTCC TCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCC CGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGC GGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3212589	C C	CCCCGCTC others(203): Show CCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCC CGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGC GGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCCGTCCTCCCGCTCAT CCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTC ACTGCGGTCCT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG03239.hp1 HG00738.hp2 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0058 a0001c0002t0002g0091 a0001c0002t0001g0058 a0001c0002t0002g0091	2	210	0.0095	210	c.387 others(229): Show c.387+26143_387+26144insCGGTCCTCCCGCTCATCCTCCCGGCC CCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCC TCCCGCTCATCCTCCCGGCCCCCTCGCTGCCGTCCTCCCGCTCATCCTCC CGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCACTGC GGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3212589	C C	CCCCGCTC others(203): Show CCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCC CGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGC GGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCAT CCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTACCGGCCCCCTC GCTGCGGTCCT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02622.hp1 HG02280.hp2 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0002 a0001c0001t0001 a0001c0008t0002	a0001c0001t0001g0125 a0001c0008t0002g0059 a0001c0001t0001g0125 a0001c0008t0002g0059	2	210	0.0095	210	c.387 others(229): Show c.387+26143_387+26144insCGGTCCTCCCGCTCATCCTCCCGGCC CCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCC TCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCC CGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTACCGGCCCCCTCGCTGC GGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3212589	C C	CCCCGCTC others(203): Show CCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCC CGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGC GGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCAT CCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTC GCTGCGGTCCT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0101 a0001c0001t0019g0101	1	210	0.0048	210	c.387 others(229): Show c.387+26143_387+26144insCGGTCCTCCCGCTCATCCTCCCGGCC CCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCC TCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCC CGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGC GGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3212653	C C	CGGTCCTC others(203): Show CGGTCCTCCCGCTCATCCTCCCGGCCCCCTCCCTGCGGTCCTCCCGCTCA TCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCT CCCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCC GCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGC CCCCTCGCTGT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0162 a0001c0001t0030g0162	1	210	0.0048	210	c.387 others(229): Show c.387+26209_387+26210insCCTGCGGTCCTCCCGCTCATCCTCCC GGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCCCTGCG GTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATC CTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCG CTGTGGTCCTCCCGCTCATCCTCCCGGCCCCCTC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3212662	C C	CGCTCATC others(203): Show CGCTCATCCTCCCGGCCCCCTCCCTGCGGTCCTCCCGCTCATCCTCCCGG CCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGT CCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCT CCCGGCCCCCTCCCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCT GCGGTCCTCCG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0039 a0001c0006t0039	a0001c0006t0039g0140 a0001c0006t0039g0140	1	210	0.0048	210	c.387 others(229): Show c.387+26209_387+26210insCCTGCGGTCCTCCCGCTCATCCTCCC GGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCG GTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATC CTCCCGGCCCCCTCCCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCG CTGCGGTCCTCCGGCTCATCCTCCCGGCCCCCTC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3379865	C C	CTCATCCC others(203): Show CTCATCCCAACACAGCCCTCCCAGCACACCCCTCCCAGCACACCCCTCCC AACACAGTCCTCCCAGCACACCCCTCCCAACACACCCCTCCCAACACACC CCTCCCAGCACACCCCTCCCAGCACACCCCTCCCAACACACCCCTCCCAA CACACCCCTCCCAGCACACCCCTCCCAACACACCCCTCCCAACACACCCC TCCCAACACAG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02723.hp2 HG02922.hp2 others(1): Show HG02647.hp2 HG02723.hp2 HG02922.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0022 a0001c0001t0023 others(1): Show a0001c0001t0001 a0001c0001t0022 a0001c0001t0023 a0001c0001t0045	a0001c0001t0001g0203 a0001c0001t0022g0040 a0001c0001t0023g0072 others(1): Show a0001c0001t0001g0203 a0001c0001t0022g0040 a0001c0001t0023g0072 a0001c0001t0045g0024	4	210	0.0191	210	c.439 others(227): Show c.439-5287_439-5286insTCATCCCAACACAGCCCTCCCAGCACAC CCCTCCCAGCACACCCCTCCCAACACAGTCCTCCCAGCACACCCCTCCCA ACACACCCCTCCCAACACACCCCTCCCAGCACACCCCTCCCAGCACACCC CTCCCAACACACCCCTCCCAACACACCCCTCCCAGCACACCCCTCCCAAC ACACCCCTCCCAACACACCCCTCCCAACACAG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16			chr1	TogoVar
PRIMA1_chr14_93713298_93793485	93722007	C C	CTAGTGGT others(203): Show CTAGTGGTGATGCTGGTGGTAATGGGGTGATGGTGGTAGTGGTGATGCTG GTGGTAATGGGGTGGTGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGG TGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGGTGGTGGTAGTGGTGA TGCTGGTGGTAATGGGGTGGTGGTGGTAGTGGTGATGCTGGTGGTAATGG GGTGGTGGTGG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01106.hp1 HG01099.hp2 HG01106.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0005 a0001c0004t0001 a0001c0002t0005 a0001c0004t0001	a0001c0002t0005g0371 a0001c0004t0001g0024 a0001c0002t0005g0371 a0001c0004t0001g0024	2	397	0.0050	210	c.360 others(225): Show c.360-462_360-461insCCACCACCACCCCATTACCACCAGCATCAC CACTACCACCACCACCCCATTACCACCAGCATCACCACTACCACCACCAC CCCATTACCACCAGCATCACCACTACCACCACCACCCCATTACCACCAGC ATCACCACTACCACCACCACCCCATTACCACCAGCATCACCACTACCACC ATCACCCCATTACCACCAGCATCACCACTA	PRIMA1	ENSG00000175785.13	transcript	ENST00000393140.6	protein_coding	4/4			chr14	TogoVar
PRIMA1_chr14_93713298_93793485	93722211	G G	GTGGTGGT others(203): Show GTGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGGTGGTGCTAGTGGTG ATGCTGGTGGTAATGGGGTGGTGGTGGTAGTGGTGATGCTGGTGGTAATG GGGTGATGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGGTGGTGGTAG TGGTGATGCTGGTGGTAATGGGGTGGTGGTGGTAGTGGTGATGCTGGTGG TAATGGGGTGA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0277 a0001c0005t0001g0277	1	397	0.0025	210	c.360 others(225): Show c.360-666_360-665insTCACCCCATTACCACCAGCATCACCACTAC CACCACCACCCCATTACCACCAGCATCACCACTACCACCACCACCCCATT ACCACCAGCATCACCACTACCACCATCACCCCATTACCACCAGCATCACC ACTACCACCACCACCCCATTACCACCAGCATCACCACTAGCACCACCACC CCATTACCACCAGCATCACCACTACCACCA	PRIMA1	ENSG00000175785.13	transcript	ENST00000393140.6	protein_coding	4/4			chr14	TogoVar
PRKCA_chr17_66297613_66815743	66798407	A A	ATGGTGGT others(203): Show ATGGTGGTGGTGGTGGTGGTGACGGTGGTGGTGGTGGTGACGGTGGTGGT GGTGGTGGTGACGGTGGTGGTGGTGGTGACGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATG GTAATGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGT GATGGTGGTGG	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03704.hp2 HG03688.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0014 a0001c0002t0003g0019 a0001c0002t0003g0014 a0001c0002t0003g0019	2	178	0.0112	210	c.185 others(229): Show c.1855-5461_1855-5460insGTGGTGGTGGTGGTGACGGTGGTGGT GGTGGTGACGGTGGTGGTGGTGGTGGTGACGGTGGTGGTGGTGGTGACGG TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTG GTGGTGGTGGTGGTGATGGTAATGGTGGTGGTGATGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66798794	A A	ATGGTGGT others(203): Show ATGGTGGTGGTGGTGGTGGTGACGGTGGTGACGGTGGTGACGGTGGTGGT GGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGG TGGTGACGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGACGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGACGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGATGGTGG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0056 a0001c0001t0077g0056	1	178	0.0056	210	c.185 others(229): Show c.1855-5059_1855-5058insACGGTGGTGACGGTGGTGACGGTGGT GGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGG TGGTGGTGACGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGACGGTGGTG GTGGTGGTGGTGGTGGTGGTGGTGACGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTG	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCB_chr16_23830983_24225611	23981846	C C	CCCCTTCA others(203): Show CCCCTTCACTTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCTTTTCCCTT CCACTTCCCCTTTCCCTTCCACTTCCTTTCCCTTCACCTTCCCCTTCCCT TTCCCTTCCCCTTCCCTTCCCTTCCCCTTCCCTTTCCCTTCCCCTTCTCT TTCCTTCCCTTTCCCTTCCCTTTCCTTTTCCCTTCCCTTCCCTTTCCCTT CCTTTTCCCTT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0065 a0001c0002t0005g0065	1	148	0.0068	210	c.206 others(227): Show c.206-6656_206-6655insACTTTCCCTTCCCCTTCCCTTCCCTTTC CCTTCCTTTTCCCTTCCACTTCCCCTTTCCCTTCCACTTCCTTTCCCTTC ACCTTCCCCTTCCCTTTCCCTTCCCCTTCCCTTCCCTTCCCCTTCCCTTT CCCTTCCCCTTCTCTTTCCTTCCCTTTCCCTTCCCTTTCCTTTTCCCTTC CCTTCCCTTTCCCTTCCTTTTCCCTTCCCTTC	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	24113243	A A	ACTTGCTT others(203): Show ACTTGCTTGCTTTCTCGCTTTCTTCCTTTCTCTCTTGCTTTCTCTTGCTT GCTTTCTCGCTTTCTTCCTTTCTCTCTTGCTTTCTCTTGCTTGCTTTCTC GCTTTCTTCCTTTCTCTCTTGCTTTCTCTTGCTTGCTTTCTCGCTTTCTT CCTTTCTCTCTTGCTTTCTCTTGCTTGCTTTCTCGCTTTCTTCCTTTCTC ACTTGCTTTCT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0024 a0001c0012t0024	a0001c0012t0024g0022 a0001c0012t0024g0022	1	148	0.0068	210	c.918 others(225): Show c.918+246_918+247insCTCTTGCTTTCTCTTGCTTGCTTTCTCGCT TTCTTCCTTTCTCTCTTGCTTTCTCTTGCTTGCTTTCTCGCTTTCTTCCT TTCTCTCTTGCTTTCTCTTGCTTGCTTTCTCGCTTTCTTCCTTTCTCACT TGCTTTCTCTTGCTTGCTTTCTCGCTTTCTTCCTTTCTCTCTTGCTTTCT CTTGCTTGCTTTCTCGCTTTCTTCCTTTCT	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	24113243	A A	ACTTGCTT others(203): Show ACTTGCTTGCTTTCTCGCTTTCTTCCTTTCTCTCTTGCTTTCTCTTGCTT GCTTTCTCGCTTTCTTCCTTTCTCTCTTGCTTTCTCTTGCTTGCTTTCTC GCTTTCTTCCTTTCTCTCTTGCTTTCTCTTGCTTGCTTTCTCGCTTTCTT CCTTTCTCTCTTGCTTTCTCTTGCTTGCTTTCTCGCTTTCTTCCTTTCTC TCTTGCTTTCT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02895.hp2 HG02896.hp2 others(4): Show HG02723.hp1 HG02895.hp2 HG02896.hp2 HG03041.hp2 HG03098.hp1 HG03225.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0018	a0001c0001t0017 a0001c0001t0056 a0001c0001t0079 others(4): Show a0001c0001t0017 a0001c0001t0056 a0001c0001t0079 a0001c0002t0023 a0001c0003t0010 a0001c0003t0024 a0001c0018t0008	a0001c0001t0017g0082 a0001c0001t0056g0109 a0001c0001t0079g0142 others(4): Show a0001c0001t0017g0082 a0001c0001t0056g0109 a0001c0001t0079g0142 a0001c0002t0023g0080 a0001c0003t0010g0143 a0001c0003t0024g0057 a0001c0018t0008g0048	7	148	0.0473	210	c.918 others(225): Show c.918+246_918+247insCTCTTGCTTTCTCTTGCTTGCTTTCTCGCT TTCTTCCTTTCTCTCTTGCTTTCTCTTGCTTGCTTTCTCGCTTTCTTCCT TTCTCTCTTGCTTTCTCTTGCTTGCTTTCTCGCTTTCTTCCTTTCTCTCT TGCTTTCTCTTGCTTGCTTTCTCGCTTTCTTCCTTTCTCTCTTGCTTTCT CTTGCTTGCTTTCTCGCTTTCTTCCTTTCT	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCZ_chr1_2045411_2190395	2123053	G G	GGTAGTTA others(203): Show GGTAGTTATTTAGGGTCACGGTGGTGGTTAGGGTCGTGGTGGTGGTTAGG GTCGTGGTGGTAGTTATTTAGGGTCATGGTGGTGGTTAGGGTCGTGGTGG TAGTTATTTAGGGTCACGGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCAC GGTGGTGGTTAGGGTCATGGCGGTGGTTAGGGTCACGGCTGTAGTTAGGG TCACGGCTGTA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02080.hp1 HG00558.hp2 HG02080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0096 a0001c0002t0001g0100 a0001c0002t0001g0096 a0001c0002t0001g0100	2	286	0.0070	210	c.335 others(229): Show c.335-12207_335-12206insAGTTATTTAGGGTCACGGTGGTGGTT AGGGTCGTGGTGGTGGTTAGGGTCGTGGTGGTAGTTATTTAGGGTCATGG TGGTGGTTAGGGTCGTGGTGGTAGTTATTTAGGGTCACGGTGGTGGTTAG GGTCGTGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCATGGCGGTGGTTA GGGTCACGGCTGTAGTTAGGGTCACGGCTGTAGT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PROZ_chr13_113153648_113177386	113161846	C C	CCATCCTC others(203): Show CCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTC CTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTCCTGCT CAGGTCCCCGTCCCTGCCACCTCCCCCCATCCTCCTCCTGCTCAGGTCCC CGTCCCTGCCACCTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTG CCACGTCCCCA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	378	0.0027	210	c.259 others(225): Show c.259+951_259+952insGTCCCCACATCCTCCTCCTGCTCAGGTCCC CGTCCCTGCCACCTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTG CCACCTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCC CCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCC TCCTCCTGCTCAGGTCCCCGTCCCTGCCAC	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
PROZ_chr13_113153648_113177386	113161882	G G	GTCCCCAC others(203): Show GTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCAC ATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCT CCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCCCATCCTCCTCCTGCTCA GGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTCCTGCTCAGGTCCCCG TCCCTGCCACC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01167.hp1 HG01169.hp2 others(3): Show HG00735.hp1 HG01167.hp1 HG01169.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0146 a0002c0003t0001g0147 a0002c0003t0001g0148 others(3): Show a0002c0003t0001g0146 a0002c0003t0001g0147 a0002c0003t0001g0148 a0002c0003t0001g0149 a0002c0003t0001g0150 a0002c0003t0001g0151	6	378	0.0159	210	c.259 others(225): Show c.259+951_259+952insGTCCCCACATCCTCCTCCTGCTCAGGTCCC CGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTG CCACCTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCC CCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCC TCCTCCTGCTCAGGTCCCCGTCCCTGCCAC	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr13	TogoVar

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