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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
NOX1_chrX_100838324_100879359	100853333	T T	TTTCTTTC others(100): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTTCTTCCTTCCTTCCTTCCTTGCTTTCTTC CTTGCGTC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	302	0.0033	107	c.805 others(124): Show c.805-2009_805-2008insGACGCAAGGAAGAAAGCAAGGAAGGAAG GAAGGAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAA		NOX1	ENSG00000007952.18	transcript	ENST00000372966.8	protein_coding	7/12						chrX	TogoVar
NPIPB4_chr16_21829582_21862756	21836161	C C	CAGCAGGT others(100): Show CAGCAGGTATCTTGATATTATCATCTGCTGAGGGTGGAGCTGAGGGTGGA AGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGATTATCATCCGCTGA GGGTGGAA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG03927.hp2 HG03927.hp2	a0055 a0055	a0055c0057 a0055c0057	a0055c0057t0001 a0055c0057t0001	a0055c0057t0001g0130 a0055c0057t0001g0130	1	204	0.0049	107	c.222 others(116): Show c.2225_2226insTTCCACCCTCAGCGGATGATAATCTCAAGACACCTT CCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGAT GATAATATCAAGATACCTGCT	p.Val others(5): Show p.Val744fs	NPIPB4	ENSG00000185864.19	transcript	ENST00000682606.1	protein_coding	8/8	2440/4020	2225/3669	742/1222			chr16	TogoVar
NPIPB4_chr16_21829582_21862756	21836287	C C	CAGCAGGT others(100): Show CAGCAGGTATCTTGATATTATCATCTGCTGAGGGTGGAGCTGAGGGTGGA AGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGATTATCATCCGCTGA GGGTGGAA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG02015.hp1 HG02015.hp1	a0057 a0057	a0057c0058 a0057c0058	a0057c0058t0001 a0057c0058t0001	a0057c0058t0001g0182 a0057c0058t0001g0182	1	204	0.0049	107	c.209 others(116): Show c.2099_2100insTTCCACCCTCAGCGGATGATAATCTCAAGACACCTT CCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGAT GATAATATCAAGATACCTGCT	p.Val others(5): Show p.Val702fs	NPIPB4	ENSG00000185864.19	transcript	ENST00000682606.1	protein_coding	8/8	2314/4020	2099/3669	700/1222			chr16	TogoVar
NR1D2_chr3_23940286_23985617	23947689	A A	AGTGTAGG others(100): Show AGTGTAGGAATTTACAATGACCATTCTTAAAATTTCTCTCGTTCATTTGG CCTTAAGTTCAAAGCTGTTACAAGCTGTTACCCACCATGTTTACAGTTTC TGCTATCT	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0186 a0001c0001t0002g0186	1	380	0.0026	107	c.16+ others(122): Show c.16+2096_16+2202dupGTGTAGGAATTTACAATGACCATTCTTAAA ATTTCTCTCGTTCATTTGGCCTTAAGTTCAAAGCTGTTACAAGCTGTTAC CCACCATGTTTACAGTTTCTGCTATCT		NR1D2	ENSG00000174738.13	transcript	ENST00000312521.9	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr3	TogoVar
NTRK2_chr9_84664729_85032054	85004039	A A	AAGAAAGA others(100): Show AAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA AGAAAGAG	intron_variant intron_variant	MODIFIER	HG01175.hp2 NA19006.hp1 NA19070.hp1 HG01175.hp2 NA19006.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0018 a0001c0001t0001 a0001c0008t0018	a0001c0001t0001g0032 a0001c0001t0001g0164 a0001c0008t0018g0006 a0001c0001t0001g0032 a0001c0001t0001g0164 a0001c0008t0018g0006	3	170	0.0177	107	c.217 others(128): Show c.2173-16161_2173-16160insAAAGAAAGAAAGAAAGAAAAGAAA GAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAAGAAAGAGAGAAAG		NTRK2	ENSG00000148053.18	transcript	ENST00000277120.8	protein_coding	17/18					INFO_REALIGN_3_PRIME	chr9	TogoVar
NTRK2_chr9_84664729_85032054	85004039	A A	AAGAAAGA others(100): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA AGAAAGAG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0009 a0004c0009t0009	a0004c0009t0009g0133 a0004c0009t0009g0133	1	170	0.0059	107	c.217 others(128): Show c.2173-16161_2173-16160insAAAGAAAGAAAGAAAGAAAGAAAG AAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAAGAAAGAGAGAAAG		NTRK2	ENSG00000148053.18	transcript	ENST00000277120.8	protein_coding	17/18					INFO_REALIGN_3_PRIME	chr9	TogoVar
NTRK2_chr9_84664729_85032054	85004039	A A	AAGAAAGA others(100): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAA AGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA AGAAAGAG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0018 a0001c0005t0018	a0001c0005t0018g0012 a0001c0005t0018g0012	1	170	0.0059	107	c.217 others(128): Show c.2173-16161_2173-16160insAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAAGAAAGAGAGAAAG		NTRK2	ENSG00000148053.18	transcript	ENST00000277120.8	protein_coding	17/18					INFO_REALIGN_3_PRIME	chr9	TogoVar
NTS_chr12_85869295_85887992	85879256	A A	ATATTTTA others(100): Show ATATTTTATGTACGTAAAATATATTTTATGTATATTTTATGTACGTAAAA TATATTTTTATATATATTTTATGTACGTAAAATATATTTATATATATATT TTATGTAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02647.hp2 HG02895.hp2 others(5): Show HG02280.hp1 HG02647.hp2 HG02895.hp2 HG02970.hp2 HG03130.hp2 HG03195.hp1 HG03579.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0014 a0001c0001t0001g0037 a0001c0001t0001g0038	8	420	0.0191	107	c.360 others(122): Show c.360+687_360+688insTATTTTATGTACGTAAAATATATTTTATGT ATATTTTATGTACGTAAAATATATTTTTATATATATTTTATGTACGTAAA ATATATTTATATATATATTTTATGTAT		NTS	ENSG00000133636.11	transcript	ENST00000256010.7	protein_coding	3/3						chr12	TogoVar
NTS_chr12_85869295_85887992	85879256	A A	ATATTTTA others(100): Show ATATTTTATGTACGTAAAATATATTTTTATATATATTTTATGTACGTAAA ATATATTTATATATATATTTATGTATGTAAAATATATTTATATATATATT TTATGTAT	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0062	1	420	0.0024	107	c.360 others(122): Show c.360+687_360+688insTATTTTATGTACGTAAAATATATTTTTATA TATATTTTATGTACGTAAAATATATTTATATATATATTTATGTATGTAAA ATATATTTATATATATATTTTATGTAT		NTS	ENSG00000133636.11	transcript	ENST00000256010.7	protein_coding	3/3						chr12	TogoVar
NTS_chr12_85869295_85887992	85879256	A A	ATATTTTA others(100): Show ATATTTTATGTACGTAAAATATATTTTTATATATATTTTATGTACGTAAA ATATATTTATATATATATTTTATGTATATTTTATGTATATTTTATGTATA TAAAATAT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0108 a0001c0001t0002g0108	1	420	0.0024	107	c.360 others(122): Show c.360+687_360+688insTATTTTATGTACGTAAAATATATTTTTATA TATATTTTATGTACGTAAAATATATTTATATATATATTTTATGTATATTT TATGTATATTTTATGTATATAAAATAT		NTS	ENSG00000133636.11	transcript	ENST00000256010.7	protein_coding	3/3						chr12	TogoVar
OBI1_chr13_78609289_78664155	78659304	A A	AGAAAGAA others(100): Show AGAAAGAAAGAAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	296	0.0034	107	c.-18 others(116): Show c.-185_-184insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTTCTTTTCTTTCTTTC		OBI1	ENSG00000152193.8	transcript	ENST00000282003.7	protein_coding					150		chr13	TogoVar
OBI1_chr13_78609289_78664155	78659308	A A	AGAAAAGA others(100): Show AGAAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	296	0.0034	107	c.-18 others(116): Show c.-189_-188insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTTCTTTCTTTTC		OBI1	ENSG00000152193.8	transcript	ENST00000282003.7	protein_coding					154		chr13	TogoVar
OCA2_chr15_27749875_28104315	28069406	T T	TCTCCCTC others(100): Show TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02647.hp2 HG02451.hp1 HG02647.hp2	a0001 a0001	a0001c0005 a0001c0007 a0001c0005 a0001c0007	a0001c0005t0001 a0001c0007t0001 a0001c0005t0001 a0001c0007t0001	a0001c0005t0001g0092 a0001c0007t0001g0090 a0001c0005t0001g0092 a0001c0007t0001g0090	2	110	0.0182	107	c.227 others(126): Show c.227+12241_227+12242insGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG		OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	2/23						chr15	TogoVar
ONECUT3_chr19_1748506_1785988	1768905	G G	GTGGAGGT others(100): Show GTGGAGGTGGTGGAGGTGAAGGTGGAGGTGGTGGAGGTGAAGGTGGAGGA GGTAGAGGTAGAGGTGCTGGAGGTGGAGGTAATGGAGGTGGAGTGGAGGT GGAGGTGA	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0247 a0001c0001t0002g0247	1	370	0.0027	107	c.119 others(126): Show c.1193-6239_1193-6238insTGGAGGTGAAGGTGGAGGTGGTGGAG GTGAAGGTGGAGGAGGTAGAGGTAGAGGTGCTGGAGGTGGAGGTAATGGA GGTGGAGTGGAGGTGGAGGTGATGGAGGTGG		ONECUT3	ENSG00000205922.5	transcript	ENST00000382349.5	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr19	TogoVar
OPTN_chr10_13095163_13143308	13114814	T T	TTATATAT others(100): Show TTATATATACGTATATATAATTATATAATTATATAATTATATAATTATAT AATTATATAATTATATATACGTATATATAATTATATAATTATATAATTAT ATAACGTA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	418	0.0024	107	c.553 others(124): Show c.553-1447_553-1446insTACGTATATATAATTATATAATTATATA ATTATATAATTATATAATTATATAATTATATATACGTATATATAATTATA TAATTATATAATTATATAACGTATATATA		OPTN	ENSG00000123240.17	transcript	ENST00000378747.8	protein_coding	5/14					INFO_REALIGN_3_PRIME	chr10	TogoVar
OR1F1_chr16_3183204_3211556	3207195	G G	GAAATGGA others(100): Show GAAATGGAGGAGAGGGGAGGGGAGGGAAATGGAGGAGGGGGAGGGGAGGG AAATGGAGGAGGGGGAGGGGAGGGGAGGAGAGGGGAGGGGAGGGGAGGGG AGGGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02976.hp1 NA18522.hp1 others(1): Show HG02257.hp2 HG02976.hp1 NA18522.hp1 NA19088.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0013 a0002c0002t0001 a0002c0002t0013	a0002c0002t0001g0003 a0002c0002t0013g0009 a0002c0002t0013g0033 a0002c0002t0001g0003 a0002c0002t0013g0009 a0002c0002t0013g0033	4	328	0.0122	107	c.20 others(118): Show c.2010_*2011insAAATGGAGGAGAGGGGAGGGGAGGGAAATGGAGG AGGGGGAGGGGAGGGAAATGGAGGAGGGGGAGGGGAGGGGAGGAGAGGGG AGGGGAGGGGAGGGGAGGGAAGA		OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding					640		chr16	TogoVar
OR1J2_chr9_122505802_122516743	122515390	G G	GTGTGTGT others(100): Show GTGTGTGTGTATACGGGTGCTCAGCATTTGTCTGTGCTCTTCTGGAGTCA TTTTTTATTCCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	2	468	0.0043	107	c.36 others(118): Show c.3647_*3648insTGTGTGTGTATACGGGTGCTCAGCATTTGTCTGT GCTCTTCTGGAGTCATTTTTTATTCCGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTA		OR1J2	ENSG00000197233.7	transcript	ENST00000335302.5	protein_coding					3648		chr9	TogoVar
OR1J4_chr9_122514141_122525082	122515390	G G	GTGTGTGT others(100): Show GTGTGTGTGTATACGGGTGCTCAGCATTTGTCTGTGCTCTTCTGGAGTCA TTTTTTATTCCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0000 a0001c0002t0000	a0001c0002t0000g0000 a0001c0002t0000g0000	1	440	0.0023	107	c.-37 others(118): Show c.-3751_-3750insTGTGTGTGTATACGGGTGCTCAGCATTTGTCTGT GCTCTTCTGGAGTCATTTTTTATTCCGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTA		OR1J4	ENSG00000239590.1	transcript	ENST00000340750.1	protein_coding					3750		chr9	TogoVar
OR1L3_chr9_122670130_122681104	122679110	T T	TATATATT others(100): Show TATATATTATATATAACATATATTATATAATATATATTATATATAATATA TATTATATAATATATGTTATATATAACACTATATTATATAATATATATTA TATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	380	0.0026	107	c.30 others(118): Show c.3006_*3007insATATATTATATATAACATATATTATATAATATAT ATTATATATAATATATATTATATAATATATGTTATATATAACACTATATT ATATAATATATATTATATATAAC		OR1L3	ENSG00000171481.5	transcript	ENST00000304820.5	protein_coding					3007		chr9	TogoVar
OR2T12_chr1_248285139_248308424	248306469	C C	CCCCAGAG others(100): Show CCCCAGAGGACTGGAGCCGCCTGAGGACTGGAGCCGCCCTGAGGACAGGA GCCGCCCTGAGGACAGGAGCCGCCCTGAGGACTGGAGCCGCCCTGAGGAC TGGAGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00558.hp2 HG00609.hp1 others(49): Show HG00408.hp2 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00738.hp1 HG01106.hp1 HG01255.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01934.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02056.hp1 HG02074.hp2 HG02083.hp2 HG02135.hp2 HG02145.hp2 HG02273.hp2 HG02602.hp2 HG02738.hp1 HG03239.hp1 HG03239.hp2 HG03669.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18612.hp2 NA18939.hp1 NA18959.hp2 NA18961.hp2 NA18965.hp1 NA18971.hp1 NA18985.hp2 NA19010.hp1 NA19012.hp2 NA19054.hp2 NA19055.hp2 NA19063.hp2 NA19068.hp2 NA19077.hp1 NA19078.hp1 NA20752.hp1	a0002 a0021 a0002 a0021	a0002c0002 a0021c0023 a0002c0002 a0021c0023	a0002c0002t0002 a0002c0002t0026 a0002c0002t0037 others(2): Show a0002c0002t0002 a0002c0002t0026 a0002c0002t0037 a0002c0002t0038 a0021c0023t0035	a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0011 others(8): Show a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0011 a0002c0002t0002g0015 a0002c0002t0002g0071 a0002c0002t0002g0073 a0002c0002t0002g0116 a0002c0002t0026g0075 a0002c0002t0037g0083 a0002c0002t0038g0084 a0021c0023t0035g0070	52	406	0.1281	107	c.-33 others(118): Show c.-3314_-3313insCGGCTCCAGTCCTCAGGGCGGCTCCAGTCCTCAG GGCGGCTCCTGTCCTCAGGGCGGCTCCTGTCCTCAGGGCGGCTCCAGTCC TCAGGCGGCTCCAGTCCTCTGGG		OR2T12	ENSG00000177201.3	transcript	ENST00000641276.1	protein_coding					3046		chr1	TogoVar
OR2T12_chr1_248285139_248308424	248306504	G G	GCCCTGAG others(100): Show GCCCTGAGGACAGGAGCCGCCCTGAGGACAGGAGCCGCCCTGAGGACTGG AGCCGCCCTGAGGACTGGAGCCGCCCTGAGGACTGGAGCCGCCCTGAGGA CTGGAGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	406	0.0025	107	c.-33 others(118): Show c.-3349_-3348insGGCTCCAGTCCTCAGGGCGGCTCCAGTCCTCAGG GCGGCTCCAGTCCTCAGGGCGGCTCCAGTCCTCAGGGCGGCTCCTGTCCT CAGGGCGGCTCCTGTCCTCAGGG		OR2T12	ENSG00000177201.3	transcript	ENST00000641276.1	protein_coding					3081		chr1	TogoVar
OR4X1_chr11_48258861_48269778	48268292	C C	CTTTTATT others(100): Show CTTTTATTTTATTTTATTTTATATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTATTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT ATTTTATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0000 a0002c0002t0000	a0002c0002t0000g0000 a0002c0002t0000g0000	1	402	0.0025	107	c.35 others(118): Show c.3514_*3515insTTTTATTTTATTTTATTTTATATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTATTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATATTTTATT		OR4X1	ENSG00000176567.1	transcript	ENST00000320048.1	protein_coding					3515		chr11	TogoVar
OR7A5_chr19_14821241_14840185	14833888	A A	ACGGGTAC others(100): Show ACGGGTACTCTAATTTTGGTGACAGAAATAAGTGTCATAATGTCTTGTGG AAACAATCTCCGGACAGATAAAATATTAAAAACACATACAGGCTGGGCGT GGTGGCAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00438.hp1 others(70): Show HG00323.hp1 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00639.hp1 HG00733.hp1 HG01069.hp2 HG01071.hp2 HG01099.hp1 HG01168.hp1 HG01243.hp2 HG01261.hp2 HG01928.hp1 HG01943.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02074.hp1 HG02074.hp2 HG02129.hp2 HG02145.hp1 HG02293.hp2 HG02559.hp1 HG02723.hp2 HG03017.hp1 HG03139.hp1 HG03540.hp2 HG03927.hp1 HG03942.hp1 NA18522.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18944.hp1 NA18945.hp2 NA18949.hp2 NA18952.hp1 NA18955.hp2 NA18957.hp2 NA18965.hp1 NA18969.hp1 NA18970.hp1 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18981.hp2 NA18984.hp1 NA18987.hp2 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA19001.hp2 NA19005.hp1 NA19054.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19076.hp2 NA19078.hp2 NA19083.hp1 NA19085.hp1 NA19086.hp1 NA19090.hp1 NA20129.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0001t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0049 others(12): Show a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0049 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0003g0050 a0001c0001t0003g0130 a0001c0002t0001g0007 a0001c0002t0001g0009 a0001c0002t0001g0021 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0128 a0001c0002t0001g0132	73	472	0.1547	107	c.-14 others(124): Show c.-14+1185_-14+1186insGTGCCACCACGCCCAGCCTGTATGTGTT TTTAATATTTTATCTGTCCGGAGATTGTTTCCACAAGACATTATGACACT TATTTCTGTCACCAAAATTAGAGTACCCG		OR7A5	ENSG00000188269.10	transcript	ENST00000322301.5	protein_coding	1/1						chr19	TogoVar
OR7C1_chr19_14793515_14840185	14833888	A A	ACGGGTAC others(100): Show ACGGGTACTCTAATTTTGGTGACAGAAATAAGTGTCATAATGTCTTGTGG AAACAATCTCCGGACAGATAAAATATTAAAAACACATACAGGCTGGGCGT GGTGGCAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00438.hp1 others(61): Show HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00639.hp2 HG00733.hp2 HG01069.hp2 HG01071.hp1 HG01099.hp2 HG01168.hp1 HG01243.hp2 HG01261.hp2 HG01928.hp1 HG01943.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02145.hp2 HG02293.hp2 HG02723.hp2 HG03017.hp1 HG03139.hp1 HG03540.hp2 HG03927.hp1 HG03942.hp2 NA18522.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp2 NA18952.hp1 NA18955.hp2 NA18957.hp1 NA18965.hp1 NA18969.hp1 NA18970.hp1 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18981.hp1 NA18984.hp1 NA18987.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA19005.hp2 NA19011.hp2 NA19054.hp1 NA19064.hp1 NA19065.hp2 NA19068.hp2 NA19076.hp1 NA19086.hp1 NA20129.hp2 NA20805.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0009	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0009c0016	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0003c0003t0001 a0003c0003t0006 a0004c0004t0001 a0009c0016t0013	a0001c0001t0001g0002 a0001c0001t0001g0023 a0001c0001t0001g0024 others(52): Show a0001c0001t0001g0002 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0315 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0321 a0001c0001t0001g0323 a0001c0001t0001g0325 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0002g0312 a0001c0001t0002g0338 a0002c0002t0001g0022 a0002c0002t0001g0025 a0002c0002t0001g0027 a0002c0002t0001g0313 a0002c0002t0001g0314 a0002c0002t0001g0316 a0002c0002t0001g0317 a0002c0002t0001g0320 a0002c0002t0001g0322 a0002c0002t0001g0326 a0002c0002t0001g0337 a0002c0002t0001g0342 a0002c0002t0001g0343 a0002c0002t0001g0351 a0003c0003t0001g0346 a0003c0003t0001g0358 a0003c0003t0001g0359 a0003c0003t0006g0331 a0004c0004t0001g0324 a0009c0016t0013g0334	64	408	0.1569	107	c.-62 others(126): Show c.-623+1185_-623+1186insGTGCCACCACGCCCAGCCTGTATGTG TTTTTAATATTTTATCTGTCCGGAGATTGTTTCCACAAGACATTATGACA CTTATTTCTGTCACCAAAATTAGAGTACCCG		OR7C1	ENSG00000127530.4	transcript	ENST00000641666.2	protein_coding	1/4						chr19	TogoVar
PAK2_chr3_196734857_196837647	196811297	C C	CTTCCCTC others(100): Show CTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCTTTCCTTCCTTTCC TTCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTTCCTTTCCTTCCTTTCCT TCCTTCCT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03453.hp1 HG03209.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0029 a0001c0001t0001 a0001c0001t0029	a0001c0001t0001g0045 a0001c0001t0029g0044 a0001c0001t0001g0045 a0001c0001t0029g0044	2	178	0.0112	107	c.773 others(122): Show c.773+645_773+646insTCCCTCCCTCCCTTCCCTCCCTTCCTTCCC TTCCTTTCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCCT TCCTTTCCTTCCTTTCCTTCCTTCCTT		PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14					INFO_REALIGN_3_PRIME	chr3	TogoVar
PARD3_chr10_34104561_34820296	34605643	A A	ATATATAT others(100): Show ATATATATATATCTCCTATATATATATCTCCTATATATATATCTCCTATA TATATATATCTCCTATATATATCTCCTATATATATATATCTCCTATATAT ATATCTCC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0070 a0001c0003t0001g0070	1	100	0.0100	107	c.223 others(126): Show c.223-88485_223-88484insGGAGATATATATATAGGAGATATATA TATATAGGAGATATATATAGGAGATATATATATATAGGAGATATATATAT AGGAGATATATATATAGGAGATATATATATA		PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24						chr10	TogoVar
PARVB_chr22_44019302_44177939	44112877	G G	GTTGTTAC others(100): Show GTTGTTACTAAGTAAGGCCCTGCACCAGCACAGATACATTGTTACTAAGG CCCTGCACCAACACAGATACATTGTTACTAACTAAGGCCCTACACCAGCA AAGATACA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02818.hp2 HG01891.hp1 HG02818.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0003 a0001c0005t0001 a0001c0005t0003	a0001c0005t0001g0190 a0001c0005t0003g0133 a0001c0005t0001g0190 a0001c0005t0003g0133	2	332	0.0060	107	c.274 others(124): Show c.274-6151_274-6150insGTAAGGCCCTGCACCAGCACAGATACAT TGTTACTAAGGCCCTGCACCAACACAGATACATTGTTACTAACTAAGGCC CTACACCAGCAAAGATACATTGTTACTAA		PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVB_chr22_44019302_44177939	44112907	C C	CAGATACG others(100): Show CAGATACGTTGTTACTAAGTAAGGCCCTGCACCAGCACAGATACATTGTT ACTAAGGCCCTGCACCAACACAGATACATTGTTACTAACTAAGGCCCTAC ACCAGCAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02970.hp1 HG02622.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0053 a0001c0002t0058 a0001c0001t0053 a0001c0002t0058	a0001c0001t0053g0126 a0001c0002t0058g0020 a0001c0001t0053g0126 a0001c0002t0058g0020	2	332	0.0060	107	c.274 others(124): Show c.274-6125_274-6124insGTTGTTACTAAGTAAGGCCCTGCACCAG CACAGATACATTGTTACTAAGGCCCTGCACCAACACAGATACATTGTTAC TAACTAAGGCCCTACACCAGCAAAGATAC		PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVB_chr22_44019302_44177939	44113265	C C	CAGATACG others(100): Show CAGATACGTTGTTACTAAGTAAGGCCCTGCACCAGCACAGATACATTGTT ACTAAGGCCCTGCACCAACACAGATACATTGTTACTAACTAAGGCCCTAC ACCAGCAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0067 a0001c0002t0011g0067	1	332	0.0030	107	c.274 others(124): Show c.274-5767_274-5766insGTTGTTACTAAGTAAGGCCCTGCACCAG CACAGATACATTGTTACTAAGGCCCTGCACCAACACAGATACATTGTTAC TAACTAAGGCCCTACACCAGCAAAGATAC		PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
PASD1_chrX_151558675_151681739	151562858	G G	GGGGGGGC others(100): Show GGGGGGGCGGGGGGGTGGGGGCGGGGGGGCGGAGGGGCGGAGGGGGGCGG GGGGCCGGGGGGGCGGGGGGGGCGGGGGGGCGGGGGGCGGCGGGGGGCGG GGGGCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	221	0.0045	107	c.-10 others(118): Show c.-1009_-1008insGGGGGGCGGGGGGGTGGGGGCGGGGGGGCGGAGG GGCGGAGGGGGGCGGGGGGCCGGGGGGGCGGGGGGGGCGGGGGGGCGGGG GGCGGCGGGGGGCGGGGGGCGGC		PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding					816		chrX	TogoVar
PASD1_chrX_151558675_151681739	151562909	G G	GGGGGGCG others(100): Show GGGGGGCGGGGGGTCAGCTGGGGCGGGGGGCGGGGGGGGCGGGGGGGGCG GGGGGGGCGGGGGGCGGCGGGGGGGCGGGGGGCGGCGGGGGGCGGGGGGG CGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0177 a0001c0002t0002g0177	1	221	0.0045	107	c.-95 others(116): Show c.-958_-957insGGGGGCGGGGGGTCAGCTGGGGCGGGGGGCGGGGGG GGCGGGGGGGGCGGGGGGGGCGGGGGGCGGCGGGGGGGCGGGGGGCGGCG GGGGGCGGGGGGGCGGGGGGC		PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding					765		chrX	TogoVar
PCSK5_chr9_75885673_76367975	76351447	G G	GAAAGGAA others(100): Show GAAAGGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04199.hp1 NA19090.hp2 HG04115.hp2 HG04199.hp1 NA19090.hp2	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0002c0009 a0011c0007 a0001c0001 a0002c0009 a0011c0007	a0001c0001t0005 a0002c0009t0025 a0011c0007t0008 a0001c0001t0005 a0002c0009t0025 a0011c0007t0008	a0001c0001t0005g0025 a0002c0009t0025g0084 a0011c0007t0008g0113 a0001c0001t0005g0025 a0002c0009t0025g0084 a0011c0007t0008g0113	3	166	0.0181	107	c.506 others(124): Show c.5067+519_5067+520insAAAGGAAAGAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAA		PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	36/37						chr9	TogoVar
PDCD1LG2_chr9_5505531_5576282	5506897	A A	AAAACAAG others(100): Show AAAACAAGCAATGGAGAAAGGACTTCCTACTCAATAAATGGGGCTGGGAT AACTGGCTAGCCATATACAGAAGATGGAAACTAGACTCCTTCCTTACACC AGATACAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0090 a0002c0002t0002g0090	1	406	0.0025	107	c.-39 others(118): Show c.-3921_-3920insAAACAAGCAATGGAGAAAGGACTTCCTACTCAAT AAATGGGGCTGGGATAACTGGCTAGCCATATACAGAAGATGGAAACTAGA CTCCTTCCTTACACCAGATACAG		PDCD1LG2	ENSG00000197646.8	transcript	ENST00000397747.5	protein_coding					3633		chr9	TogoVar
PDS5B_chr13_32581452_32783019	32696433	C C	CGTGTCAG others(100): Show CGTGTCAGTCACATCTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTT ATTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTG TGCAGGTT	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19088.hp2 NA19079.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0047 a0001c0001t0004g0020 a0001c0001t0001g0047 a0001c0001t0004g0020	2	334	0.0060	107	c.155 others(124): Show c.1552-405_1552-404insTTTTTTTTTTTTTTTTTTTTTTTTATTT TTTTTATTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCA CATTGTGCAGGTTGTGTCAGTCACATCTT		PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	14/34					INFO_REALIGN_3_PRIME	chr13	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TTCTCTCT others(100): Show TTCTCTCTCTCTCTCTCTCTCTCCCCCTCTCTCCCTCTCTCTCTCTCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCCTCTCTGTCTCTCTCTCTCTCTC TCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	426	0.0024	107	c.48 others(118): Show c.4863_*4864insGAGAGAGAGAGAGAGAGAGAGAGACAGAGAGGGG GGAGGGGGAGGGGGAGGGGGAGGGGGAGAGAGAGAGAGAGGGAGAGAGGG GGAGAGAGAGAGAGAGAGAGAGA		PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding					4474		chr1	TogoVar
PEX5_chr12_7184686_7216459	7197440	T T	TAATTATA others(100): Show TAATTATATATATGTCATATACAATGTAATTATATATGTCATATACAATG TAATTATGTTATATATAATGTAATAATTATATATGTTATATATAATGTAA TAATTATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01070.hp2 HG01346.hp2 others(8): Show HG00280.hp1 HG01070.hp2 HG01346.hp2 HG02129.hp2 HG02559.hp1 HG03654.hp2 HG03710.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG04204.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0005 a0002c0002t0005 a0004c0004t0005 a0001c0001t0005 a0002c0002t0005 a0004c0004t0005	a0001c0001t0005g0207 a0001c0001t0005g0208 a0002c0002t0005g0313 others(8): Show a0001c0001t0005g0207 a0001c0001t0005g0208 a0002c0002t0005g0313 a0002c0002t0005g0314 a0002c0002t0005g0317 a0002c0002t0005g0318 a0002c0002t0005g0319 a0002c0002t0005g0320 a0002c0002t0005g0321 a0002c0002t0005g0323 a0004c0004t0005g0311	11	428	0.0257	107	c.449 others(124): Show c.449-1571_449-1570insAATTATATATATGTCATATACAATGTAA TTATATATGTCATATACAATGTAATTATGTTATATATAATGTAATAATTA TATATGTTATATATAATGTAATAATTATA		PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15						chr12	TogoVar
PIK3C2A_chr11_17081575_17212986	17193868	A A	AGGAGGGG others(100): Show AGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0175 a0001c0001t0003g0175	1	342	0.0029	107	c.-66 others(126): Show c.-66+13979_-66+13980insCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC		PIK3C2A	ENSG00000011405.14	transcript	ENST00000691414.1	protein_coding	1/32						chr11	TogoVar
PKD2L1_chr10_100283149_100335228	100314991	G G	GGAAGGGA others(100): Show GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	306	0.0033	107	c.349 others(126): Show c.349+14219_349+14220insTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC		PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15						chr10	TogoVar
PLCXD1_chrX_276381_308356	280455	G G	GGGGAGGC others(100): Show GGGGAGGCCGTGCAGGAGGAGGGGAGGCCGTGCAGGGGGCAGCGGAGGCC GTGCAGGGGGAAGGGAGGCCGTGCAGGGGGAGGGGCAGCGGAGGCCGTGC AGGGGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0002 a0001c0001t0013g0002	1	176	0.0057	107	c.-12 others(118): Show c.-1251_-1250insGGGAGGCCGTGCAGGAGGAGGGGAGGCCGTGCAG GGGGCAGCGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGGGGAGGGG CAGCGGAGGCCGTGCAGGGGGAA		PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding					925		chrX	TogoVar
PLPPR1_chr9_101023727_101330135	101238295	A A	ATATATAT others(100): Show ATATATATATACCCTATATACATAGGGTATATATATATATATATATATAT ACATATATATATATATACATATATATATACATATATATATATACATATAT ATATACCC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0071 a0001c0001t0005g0071	1	203	0.0049	107	c.64- others(124): Show c.64-31575_64-31574insCCCTATATACATAGGGTATATATATATA TATATATATATACATATATATATATATACATATATATATACATATATATA TATACATATATATATACCCTATATATATA		PLPPR1	ENSG00000148123.15	transcript	ENST00000374874.8	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr9	TogoVar
PLXNB2_chr22_50269979_50312646	50307773	G G	GGAGGGGG others(100): Show GGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAAGAGGGGGAGGGGGAAGAG GGGGAGGGGGGAGAGGGGGAGGGGGGGAGAGGGGGAGGGGGAAGAGGGGG AGGGGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0026 a0026	a0026c0048 a0026c0048	a0026c0048t0001 a0026c0048t0001	a0026c0048t0001g0143 a0026c0048t0001g0143	1	302	0.0033	107	c.-29 others(116): Show c.-295_-294insTTCCCCCTCCCCCTCTTCCCCCTCCCCCTCTCCCCC CCTCCCCCTCTCCCCCCTCCCCCTCTTCCCCCTCCCCCTCTTCCCCCTCC CCTCCCCCTCCCCTCCCCCTC		PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding					128		chr22	TogoVar
PLXNB2_chr22_50269979_50312646	50307773	G G	GGAGGGGG others(100): Show GGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAAGAGGGGGAGGGGGAAGA GGGGGAGGGGGGAGAGGGGGAGGGGGGAGAGGGGGAGGGGGAAGAGGGGG AGGGGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0168 a0001c0006t0001g0168	1	302	0.0033	107	c.-29 others(116): Show c.-295_-294insTTCCCCCTCCCCCTCTTCCCCCTCCCCCTCTCCCCC CTCCCCCTCTCCCCCCTCCCCCTCTTCCCCCTCCCCCTCTTCCCCCTCCC CTCCCCCTCCCCCTCCCCCTC		PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding					128		chr22	TogoVar
PNLDC1_chr6_159795276_159825704	159816154	C C	CCCACCCA others(100): Show CCCACCCACCCGCCCACACCCCTCCCCCTCCCCCCCCACCTCCCCCTGCC CCACCCACACCCCTCCCTGCCCCCCCACACCCCTCCCCGCCCCCCACACC CCTCCCCA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0001 a0003c0013t0001	a0003c0013t0001g0134 a0003c0013t0001g0134	1	400	0.0025	107	c.106 others(124): Show c.1060+121_1060+122insCCACCCACCCGCCCACACCCCTCCCCCT CCCCCCCCACCTCCCCCTGCCCCACCCACACCCCTCCCTGCCCCCCCACA CCCCTCCCCGCCCCCCACACCCCTCCCCA		PNLDC1	ENSG00000146453.13	transcript	ENST00000392167.4	protein_coding	13/18						chr6	TogoVar
PNLDC1_chr6_159795276_159825704	159816155	A A	ACCCACCC others(100): Show ACCCACCCGCCACACCCCTCCCCTCCCCCCCGCCACACCCCTCCCCTCCC CCCCGCCACACCCCTCCCCTCCCCCCCACCCCCCCCGCCCCACCCACACC CCTCCCCG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01256.hp2 HG01258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0225 a0001c0002t0001g0247 a0001c0002t0001g0225 a0001c0002t0001g0247	2	400	0.0050	107	c.106 others(124): Show c.1060+125_1060+126insACCCGCCACACCCCTCCCCTCCCCCCCG CCACACCCCTCCCCTCCCCCCCGCCACACCCCTCCCCTCCCCCCCACCCC CCCCGCCCCACCCACACCCCTCCCCGCCC		PNLDC1	ENSG00000146453.13	transcript	ENST00000392167.4	protein_coding	13/18					INFO_REALIGN_3_PRIME	chr6	TogoVar
POR_chr7_75910155_75991855	75988783	C C	CTGGAGGG others(100): Show CTGGAGGGGAAGAAGGCCGGGTGGGGGGGTGGAGGGGAAGGCCGGGTGGG GGGCTGGAGGGGAAGGCCAGGTGGGGGGCTGGAGGGGAAGAAGGCCGGGT GGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0237 a0001c0007t0001g0237	1	278	0.0036	107	c.23 others(118): Show c.2302_*2303insTGGAGGGGAAGAAGGCCGGGTGGGGGGGTGGAGG GGAAGGCCGGGTGGGGGGCTGGAGGGGAAGGCCAGGTGGGGGGCTGGAGG GGAAGAAGGCCGGGTGGGGGGGG		POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding					1929		chr7	TogoVar
PPARGC1A_chr4_23787021_23895047	23844786	A A	AATATATG others(100): Show AATATATGATATATATTATAATAATATATGATATATATTATTATAATATA TGATATATATTATTATAATATATGATATATATTATTATAATATATGATAT ATATTATT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02615.hp2 HG03486.hp2 others(1): Show HG02486.hp2 HG02615.hp2 HG03486.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0157 a0001c0001t0002g0163 others(1): Show a0001c0001t0002g0090 a0001c0001t0002g0157 a0001c0001t0002g0163 a0001c0001t0002g0262	4	342	0.0117	107	c.235 others(126): Show c.235-13036_235-13035insAATAATATATATCATATATTATAATA ATATATATCATATATTATAATAATATATATCATATATTATAATAATATAT ATCATATATTATTATAATATATATCATATAT		PPARGC1A	ENSG00000109819.9	transcript	ENST00000264867.7	protein_coding	2/12						chr4	TogoVar
PRKCA_chr17_66297613_66815743	66562138	T T	TATATATA others(100): Show TATATATATAATTAAATATATATAATTAAATTATATATATAATTAAATAT ATATAATTAAATTATATATATAATTAAATATATATAATTAAATTATATAT ATAATTAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0028 a0001c0003t0028	a0001c0003t0028g0132 a0001c0003t0028g0132	1	178	0.0056	107	c.288 others(126): Show c.288+65871_288+65872insATATATAATTAAATTATATATATAAT TAAATATATATAATTAAATTATATATATAATTAAATATATATAATTAAAT TATATATATAATTAAATATATATAATTAAAT		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKN_chr6_161342417_162732766	161350972	T T	TAAATATA others(100): Show TAAATATATTTTATATATTTATATTTAAAATATATATAAATATATTTTAT ATATTTATATTTAAAATATATATAAATATATTTTATATATTTATATTTAA AATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01884.hp1 HG01192.hp1 HG01884.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0004 a0001c0001t0004 a0002c0002t0004	a0001c0001t0004g0029 a0002c0002t0004g0019 a0001c0001t0004g0029 a0002c0002t0004g0019	2	32	0.0625	107	c.128 others(124): Show c.1286-868_1286-762dupTATATATTTTAAATATAAATATATAAAA TATATTTATATATATTTTAAATATAAATATATAAAATATATTTATATATA TTTTAAATATAAATATATAAAATATATTT		PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	11/11						chr6	TogoVar
PRMT2_chr21_46630674_46670124	46645267	A A	AAAAAAAA others(100): Show AAAAAAAAAAAAAAATAGAAAAAATTCTATAAATCTATGAATGATACTAC GTGAGCCATGATGGTGCTGTTGCACTTCAGCCTGGGCTACAGAGCGAGAG CCTGTCTC	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0234 a0001c0002t0001g0234	1	426	0.0024	107	c.327 others(122): Show c.327+792_327+793insATAGAAAAAATTCTATAAATCTATGAATGA TACTACGTGAGCCATGATGGTGCTGTTGCACTTCAGCCTGGGCTACAGAG CGAGAGCCTGTCTCAAAAAAAAAAAAA		PRMT2	ENSG00000160310.19	transcript	ENST00000355680.8	protein_coding	5/11					INFO_REALIGN_3_PRIME	chr21	TogoVar
PSD3_chr8_18522303_19018703	18949244	A A	AAAAAAAA others(100): Show AAAAAAAAAAAAATATATATATATATATATATATATACACATATATATAT ATATATATATACACATATATATATATATATATATACACATATATATATAT ATATATAT	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0043 a0003c0004t0001g0043	1	228	0.0044	107	c.22- others(124): Show c.22-13103_22-13102insATATATATATATATATATATGTGTATAT ATATATATATATATATGTGTATATATATATATATATATATGTGTATATAT ATATATATATATATATATTTTTTTTTTTT		PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	1/15						chr8	TogoVar

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