JoGo: Joint Open Genome and Omics Platform

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
PAPSS2_chr10_87654878_87752705	87688443	T T	TTTTATTT others(23): Show TTTTATTTTATTTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG06807.hp1 HG03209.hp2 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0019 a0002c0004t0062 a0001c0001t0019 a0002c0004t0062	a0001c0001t0019g0163 a0002c0004t0062g0323 a0001c0001t0019g0163 a0002c0004t0062g0323	2	372	0.0054	30	c.28- others(47): Show c.28-20746_28-20745insTATTTTATTTATTTATTTATTTATTTAT TT	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAPSS2_chr10_87654878_87752705	87706084	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0250 a0001c0001t0003g0250	1	372	0.0027	30	c.28- others(45): Show c.28-3087_28-3086insATATATATATATATATATATATATATATAT	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAPSS2_chr10_87654878_87752705	87706108	A A	ATATATAT others(23): Show ATATATATATATATATATATATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0064 a0001c0001t0011g0064	1	372	0.0027	30	c.28- others(45): Show c.28-3087_28-3086insATATATATATATATATATATATGTGTGTGT	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAPSS2_chr10_87654878_87752705	87706108	A A	ATATATAT others(23): Show ATATATATATATATATATATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	372	0.0027	30	c.28- others(45): Show c.28-3087_28-3086insATATATATATATATATATATGTGTGTGTGT	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAPSS2_chr10_87654878_87752705	87706108	A A	ATATATAT others(23): Show ATATATATATATATATATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0216 a0001c0001t0009g0216	1	372	0.0027	30	c.28- others(45): Show c.28-3087_28-3086insATATATATATATATATGTGTGTGTGTGTGT	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAPSS2_chr10_87654878_87752705	87706108	A A	ATATATAT others(23): Show ATATATATATATATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0321 a0001c0001t0008g0321	1	372	0.0027	30	c.28- others(45): Show c.28-3087_28-3086insATATATATATATGTGTGTGTGTGTGTGTGT	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAPSS2_chr10_87654878_87752705	87706108	A A	ATATATAT others(23): Show ATATATATATATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0062 a0002c0004t0062	a0002c0004t0062g0323 a0002c0004t0062g0323	1	372	0.0027	30	c.28- others(45): Show c.28-3087_28-3086insATATATATATGTGTGTGTGTGTGTGTGTGT	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAPSS2_chr10_87654878_87752705	87713312	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0200 a0001c0001t0003g0200	1	372	0.0027	30	c.381 others(43): Show c.381+24_381+25insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAPSS2_chr10_87654878_87752705	87724851	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG02258.hp1 others(2): Show HG01069.hp2 HG01071.hp2 HG02258.hp1 NA19005.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0026 a0001c0001t0001 a0001c0001t0007 a0001c0001t0026	a0001c0001t0001g0047 a0001c0001t0001g0083 a0001c0001t0007g0210 others(2): Show a0001c0001t0001g0047 a0001c0001t0001g0083 a0001c0001t0007g0210 a0001c0001t0026g0313 a0001c0001t0026g0314	5	372	0.0134	30	c.881 others(47): Show c.881-2412_881-2411insCACACACACACACACACACACACACACA CA	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAQR5_chr15_69293912_69412780	69300937	C C	CTTTCTTT others(23): Show CTTTCTTTCCTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA18983.hp2 HG02015.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0161 a0001c0001t0004g0231 a0001c0001t0004g0161 a0001c0001t0004g0231	2	284	0.0070	30	c.-27 others(49): Show c.-277+1882_-277+1883insTTCTTTCCTTCTTTCTTTCTTTCTTT CTTT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69322811	G G	GGAAGAAG others(23): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0004	1	284	0.0035	30	c.-27 others(51): Show c.-276-14504_-276-14503insAGAAGAAGAAGAAGAAGAAGAAGA AGAAGA	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69322832	A A	AGAAGAAG others(23): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAG	intron_variant intron_variant	MODIFIER	HG01517.hp2 NA18941.hp1 HG01517.hp2 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0061 a0001c0001t0008g0092 a0001c0001t0001g0061 a0001c0001t0008g0092	2	284	0.0070	30	c.-27 others(51): Show c.-276-14504_-276-14503insAGAAGAAGAAGAAGAAGAAGAAGA GGAAGA	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR9_chr3_142949585_142968674	142967469	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAAAAAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0009	a0002c0003t0009g0000 a0002c0003t0009g0000	1	446	0.0022	30	c.-41 others(41): Show c.-4134_-4133insATATATTTTTTTTTTTTTTTTTTTTTTTTT	PAQR9	ENSG00000188582.10	transcript	ENST00000340634.6	protein_coding		3796		chr3	TogoVar
PARD3B_chr2_204540475_205625162	205238849	A A	AAAAAAAA others(23): Show AAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0019 a0003c0010t0019	a0003c0010t0019g0030 a0003c0010t0019g0030	1	54	0.0185	30	c.214 others(49): Show c.2141-6928_2141-6927insAAAAAAAAAATATATATATATATATA TATA	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	15/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205238890	A A	ATATATAT others(23): Show ATATATATATATATATATATATGTATGTGTG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0019 a0003c0010t0019	a0003c0010t0019g0030 a0003c0010t0019g0030	1	54	0.0185	30	c.214 others(49): Show c.2141-6869_2141-6868insATGTATGTGTGTATATATATATATAT ATAT	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	15/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205248380	T T	TTGGTGGT others(23): Show TTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03453.hp2 HG03139.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0013 a0001c0002t0001 a0001c0002t0013	a0001c0002t0001g0027 a0001c0002t0013g0022 a0001c0002t0001g0027 a0001c0002t0013g0022	2	54	0.0370	30	c.218 others(49): Show c.2185+2565_2185+2594dupTGGTGGTGGTGGTGGTGGTGGTGGTG GTGG	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205248414	T T	TGGTGGTG others(23): Show TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0031 a0002c0003t0001g0031	1	54	0.0185	30	c.218 others(49): Show c.2185+2594_2185+2595insTGGTGGTGGTGGTGGTGGTGGTGGTG GCGG	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205380916	A A	ATATATTA others(23): Show ATATATTATATATAATATATAAAGAATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02976.hp2 HG03041.hp2 others(2): Show HG02145.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp1 NA19043.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0002 a0001c0004 a0003c0010 others(1): Show a0001c0002 a0001c0004 a0003c0010 a0004c0019	a0001c0002t0001 a0001c0002t0004 a0001c0004t0021 others(2): Show a0001c0002t0001 a0001c0002t0004 a0001c0004t0021 a0003c0010t0019 a0004c0019t0002	a0001c0002t0001g0008 a0001c0002t0004g0029 a0001c0004t0021g0051 others(2): Show a0001c0002t0001g0008 a0001c0002t0004g0029 a0001c0004t0021g0051 a0003c0010t0019g0030 a0004c0019t0002g0036	5	54	0.0926	30	c.263 others(51): Show c.2631-20092_2631-20091insTATATATAATATATAAAGAATATA TTATAT	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	18/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3_chr10_34104561_34820296	34129700	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0013 a0003c0008t0013	a0003c0008t0013g0095 a0003c0008t0013g0095	1	100	0.0100	30	c.354 others(49): Show c.3540+1762_3540+1763insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	23/24			chr10	TogoVar
PARD3_chr10_34104561_34820296	34227881	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02970.hp2 HG02451.hp1 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0011 a0001c0002 a0001c0011	a0001c0002t0007 a0001c0011t0002 a0001c0002t0007 a0001c0011t0002	a0001c0002t0007g0017 a0001c0011t0002g0026 a0001c0002t0007g0017 a0001c0011t0002g0026	2	100	0.0200	30	c.341 others(51): Show c.3419+41775_3419+41776insGTATATATATATATATATATATAT ATATAT	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	22/24			chr10	TogoVar
PARD3_chr10_34104561_34820296	34605675	A A	ATATATAT others(23): Show ATATATATATCTCCTATATATATATATCTCC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	1	100	0.0100	30	c.223 others(49): Show c.223-88517_223-88516insGGAGATATATATATATAGGAGATATA TATA	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24			chr10	TogoVar
PARD3_chr10_34104561_34820296	34666796	A A	AAAAAAAA others(23): Show AAAAAAAAAATATATATGTATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	100	0.0100	30	c.222 others(49): Show c.222+29521_222+29522insATATATATATATACATATATATTTTT TTTT	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24			chr10	TogoVar
PARD6B_chr20_50726580_50758741	50750954	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0033 a0001c0001t0077g0033	1	364	0.0028	30	c.46 others(39): Show c.469_*498dupTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PARD6B	ENSG00000124171.9	transcript	ENST00000371610.7	protein_coding	3/3	499	INFO_REALIGN_3_PRIME	chr20	TogoVar
PARD6B_chr20_50726580_50758741	50750976	T T	TTTTTTTT others(23): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0016 a0001c0001t0076g0016	1	364	0.0028	30	c.49 others(39): Show c.498_*499insTTTTTTTTTTTTTTTTTTTATTTTTTTTTT	PARD6B	ENSG00000124171.9	transcript	ENST00000371610.7	protein_coding	3/3	499	INFO_REALIGN_3_PRIME	chr20	TogoVar
PARD6G_chr18_80152232_80252514	80195548	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01346.hp1 HG02132.hp2 others(2): Show HG00621.hp1 HG01346.hp1 HG02132.hp2 NA18943.hp2 NA19076.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0262 a0001c0002t0001g0265 a0001c0002t0001g0267 others(2): Show a0001c0002t0001g0262 a0001c0002t0001g0265 a0001c0002t0001g0267 a0001c0002t0001g0302 a0001c0002t0001g0356	5	382	0.0131	30	c.295 others(47): Show c.295+7161_295+7162insATATATATATATATATATATATATATAT AT	PARD6G	ENSG00000178184.16	transcript	ENST00000353265.8	protein_coding	2/2			chr18	TogoVar
PARL_chr3_183824271_183889880	183882249	A A	ATATTTAT others(23): Show ATATTTATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	358	0.0028	30	c.125 others(47): Show c.125+2472_125+2473insAATATATATATATATATATATATATAAA TA	PARL	ENSG00000175193.14	transcript	ENST00000317096.9	protein_coding	1/9			chr3	TogoVar
PARN_chr16_14430701_14635260	14501435	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02027.hp1 HG00438.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0074 a0001c0001t0006g0140 a0001c0001t0006g0074 a0001c0001t0006g0140	2	169	0.0118	30	c.148 others(51): Show c.1481-18609_1481-18608insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	PARN	ENSG00000140694.18	transcript	ENST00000437198.7	protein_coding	21/23			chr16	TogoVar
PARP11_chr12_3803861_3878399	3878177	T T	TCCTGTTA others(23): Show TCCTGTTAATGTTGGCATTTTAATCTTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0006 a0001c0001t0009g0006	1	416	0.0024	30	c.-49 others(41): Show c.-4949_-4948insGGAGAAGATTAAAATGCCAACATTAACAGG	PARP11	ENSG00000111224.14	transcript	ENST00000228820.9	protein_coding		4779		chr12	TogoVar
PARP14_chr3_122675839_122735840	122677565	A A	AAAAAATA others(23): Show AAAAAATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0322 a0001c0003t0007g0322	1	366	0.0027	30	c.-33 others(41): Show c.-3319_-3318insAAAAATATATATATATATATATATATATAT	PARP14	ENSG00000173193.15	transcript	ENST00000474629.7	protein_coding		3273		chr3	TogoVar
PARP15_chr3_122572650_122644047	122601036	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0153 a0001c0001t0012g0153	1	356	0.0028	30	c.187 others(47): Show c.187-4877_187-4876insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	PARP15	ENSG00000173200.13	transcript	ENST00000464300.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
PARP16_chr15_65253099_65291883	65273276	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18942.hp2 NA18959.hp2 others(4): Show NA18940.hp1 NA18942.hp2 NA18959.hp2 NA18961.hp1 NA19074.hp2 NA19077.hp1 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0059 others(4): Show a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0059 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0145 a0001c0002t0001g0151	7	316	0.0222	30	c.175 others(47): Show c.175-2205_175-2204insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	PARP16	ENSG00000138617.16	transcript	ENST00000649807.2	protein_coding	1/5			chr15	TogoVar
PARP16_chr15_65253099_65291883	65290933	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	316	0.0032	30	c.-45 others(41): Show c.-4508_-4507insATATATATATATATATATATATATATATAT	PARP16	ENSG00000138617.16	transcript	ENST00000649807.2	protein_coding		4051		chr15	TogoVar
PARP2_chr14_20338635_20362904	20347398	A A	ATATATTT others(23): Show ATATATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0232 a0001c0002t0001g0232	1	420	0.0024	30	c.324 others(45): Show c.324+486_324+487insATATTTTTTTTTTTTTTTTTTTTTTTTTTT	PARP2	ENSG00000129484.14	transcript	ENST00000429687.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
PARP4_chr13_24415931_24517778	24455480	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0017 a0017	a0017c0020 a0017c0020	a0017c0020t0001 a0017c0020t0001	a0017c0020t0001g0095 a0017c0020t0001g0095	1	362	0.0028	30	c.256 others(47): Show c.2563-269_2563-268insATATATATATATATATATATATATATAT AT	PARP4	ENSG00000102699.6	transcript	ENST00000381989.4	protein_coding	21/33			chr13	TogoVar
PARP8_chr5_50661637_50851519	50754116	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02300.hp1 NA18978.hp1 HG02300.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0269 a0001c0003t0001g0219 a0001c0001t0001g0269 a0001c0003t0001g0219	2	328	0.0061	30	c.184 others(47): Show c.184+3934_184+3963dupTATATATATATATATATATATATATATA TA	PARP8	ENSG00000151883.20	transcript	ENST00000281631.10	protein_coding	3/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PARVB_chr22_44019302_44177939	44066780	T T	TCTTCTCC others(23): Show TCTTCTCCTCCTCCTCCTCCTCCTTCTCCTC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02572.hp1 HG02738.hp1 HG01346.hp2 HG02572.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0001 a0001c0001t0002 a0001c0001t0010	a0001c0001t0001g0119 a0001c0001t0002g0198 a0001c0001t0010g0127 a0001c0001t0001g0119 a0001c0001t0002g0198 a0001c0001t0010g0127	3	332	0.0090	30	c.113 others(49): Show c.113-27146_113-27145insTCTCCTCCTCCTCCTCCTCCTTCTCC TCCT	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVB_chr22_44019302_44177939	44066780	T T	TCTTCTCC others(23): Show TCTTCTCCTCCTCCTCCTTCTCCTCCTCCTC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02809.hp1 HG02717.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0004 a0001c0001t0009	a0001c0001t0004g0153 a0001c0001t0009g0193 a0001c0001t0004g0153 a0001c0001t0009g0193	2	332	0.0060	30	c.113 others(49): Show c.113-27146_113-27145insTCTCCTCCTCCTCCTTCTCCTCCTCC TCCT	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVB_chr22_44019302_44177939	44066783	C C	CCTCCTCC others(23): Show CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03453.hp1 HG02572.hp2 HG03453.hp1	a0001 a0001	a0001c0007 a0001c0016 a0001c0007 a0001c0016	a0001c0007t0019 a0001c0016t0030 a0001c0007t0019 a0001c0016t0030	a0001c0007t0019g0207 a0001c0016t0030g0085 a0001c0007t0019g0207 a0001c0016t0030g0085	2	332	0.0060	30	c.113 others(49): Show c.113-27116_113-27115insTCTCCTCCTCCTCCTCCTCCTCCTCC TCCT	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVB_chr22_44019302_44177939	44066789	C C	CCTCCTCC others(23): Show CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0138 a0001c0002t0009g0138	1	332	0.0030	30	c.113 others(49): Show c.113-27110_113-27109insTCTCCTCCTCCTCCTCCTCCTCCTCC TCCT	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVB_chr22_44019302_44177939	44066801	C C	CCTCCTCC others(23): Show CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp2 HG01261.hp1 others(2): Show HG01099.hp1 HG01099.hp2 HG01261.hp1 HG01346.hp1 HG01515.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0003 a0002c0003t0006 others(1): Show a0001c0001t0001 a0001c0002t0003 a0002c0003t0006 a0002c0003t0022	a0001c0001t0001g0275 a0001c0001t0001g0283 a0001c0002t0003g0176 others(2): Show a0001c0001t0001g0275 a0001c0001t0001g0283 a0001c0002t0003g0176 a0002c0003t0006g0281 a0002c0003t0022g0026	5	332	0.0151	30	c.113 others(49): Show c.113-27106_113-27105insCTCCTCCTTCTCCTCCTCCTCCTCCT CCTC	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVB_chr22_44019302_44177939	44140024	G G	GCTTTCTG others(23): Show GCTTTCTGGCTGGCTCTGTCCCTCATCCTCA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0082 a0001c0012t0082	a0001c0012t0082g0129 a0001c0012t0082g0129	1	332	0.0030	30	c.693 others(43): Show c.693-71_693-70insACTTTCTGGCTGGCTCTGTCCCTCATCCTC	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PASD1_chrX_151558675_151681739	151562911	G G	GGCCGGGG others(23): Show GGCCGGGGGGGGCGGGGGGGGCGGGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG02280.hp1 HG00639.hp2 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0002 a0001c0002t0003	a0001c0002t0002g0035 a0001c0002t0003g0150 a0001c0002t0002g0035 a0001c0002t0003g0150	2	221	0.0091	30	c.-95 others(39): Show c.-956_-955insGCCGGGGGGGGCGGGGGGGGCGGGGGGGGC	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding		763		chrX	TogoVar
PASD1_chrX_151558675_151681739	151653868	C C	CTCCCTCC others(23): Show CTCCCTCCCTCCCTCCCCTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	221	0.0045	30	c.717 others(47): Show c.717+5168_717+5169insCCTCCCTCCCTCCCCTTCTTTCTTTCTT TC	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding	9/15		INFO_REALIGN_3_PRIME	chrX	TogoVar
PASK_chr2_241101099_241154472	241120492	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 NA18986.hp1 NA19056.hp2 HG01346.hp2 NA18986.hp1 NA19056.hp2	a0004 a0005 a0004 a0005	a0004c0004 a0004c0018 a0005c0013 a0004c0004 a0004c0018 a0005c0013	a0004c0004t0001 a0004c0018t0002 a0005c0013t0002 a0004c0004t0001 a0004c0018t0002 a0005c0013t0002	a0004c0004t0001g0203 a0004c0018t0002g0074 a0005c0013t0002g0089 a0004c0004t0001g0203 a0004c0018t0002g0074 a0005c0013t0002g0089	3	376	0.0080	30	c.307 others(49): Show c.3072+2239_3072+2240insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	PASK	ENSG00000115687.14	transcript	ENST00000234040.9	protein_coding	12/17			chr2	TogoVar
PATJ_chr1_61737480_62168915	61799040	T T	TAAATTGG others(23): Show TAAATTGGAACTTTTTCTCTTTTATGTGATA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0020 a0020	a0020c0127 a0020c0127	a0020c0127t0008 a0020c0127t0008	a0020c0127t0008g0024 a0020c0127t0008g0024	1	158	0.0063	30	c.140 others(49): Show c.1402+1613_1402+1642dupAAATTGGAACTTTTTCTCTTTTATGT GATA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	11/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	61812433	A A	AGAGAGAG others(23): Show AGAGAGAGAGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01081.hp1 HG01123.hp1 HG00735.hp1 HG01081.hp1 HG01123.hp1	a0030 a0032 a0033 a0030 a0032 a0033	a0030c0075 a0032c0131 a0033c0132 a0030c0075 a0032c0131 a0033c0132	a0030c0075t0003 a0032c0131t0004 a0033c0132t0003 a0030c0075t0003 a0032c0131t0004 a0033c0132t0003	a0030c0075t0003g0089 a0032c0131t0004g0086 a0033c0132t0003g0027 a0030c0075t0003g0089 a0032c0131t0004g0086 a0033c0132t0003g0027	3	158	0.0190	30	c.168 others(49): Show c.1683+3904_1683+3905insAGAGAGAGTGTGTGTGTGTGTGTGTG TGTG	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	14/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	61952253	T T	TGAGAGAG others(23): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01978.hp1 HG01978.hp2 HG01433.hp2 HG01978.hp1 HG01978.hp2	a0002 a0005 a0012 a0002 a0005 a0012	a0002c0106 a0005c0013 a0012c0084 a0002c0106 a0005c0013 a0012c0084	a0002c0106t0012 a0005c0013t0015 a0012c0084t0002 a0002c0106t0012 a0005c0013t0015 a0012c0084t0002	a0002c0106t0012g0104 a0005c0013t0015g0156 a0012c0084t0002g0035 a0002c0106t0012g0104 a0005c0013t0015g0156 a0012c0084t0002g0035	3	158	0.0190	30	c.367 others(51): Show c.3670+24450_3670+24451insGAGAGAGAGAGAGAGAGAGAGAGA GAGAGA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	27/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62086228	A A	ATGTGTGT others(23): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02280.hp2 HG02965.hp1 others(7): Show HG02145.hp2 HG02280.hp2 HG02965.hp1 HG02970.hp1 HG03209.hp2 HG03471.hp2 HG03579.hp2 NA18522.hp2 NA18906.hp2 NA18993.hp1	a0001 a0002 a0007 others(4): Show a0001 a0002 a0007 a0008 a0009 a0038 a0049	a0001c0001 a0002c0012 a0002c0020 others(6): Show a0001c0001 a0002c0012 a0002c0020 a0002c0030 a0007c0071 a0008c0041 a0009c0097 a0038c0037 a0049c0034	a0001c0001t0010 a0002c0012t0005 a0002c0012t0010 others(7): Show a0001c0001t0010 a0002c0012t0005 a0002c0012t0010 a0002c0020t0025 a0002c0030t0005 a0007c0071t0005 a0008c0041t0005 a0009c0097t0034 a0038c0037t0005 a0049c0034t0005	a0001c0001t0010g0014 a0002c0012t0005g0130 a0002c0012t0010g0150 others(7): Show a0001c0001t0010g0014 a0002c0012t0005g0130 a0002c0012t0010g0150 a0002c0020t0025g0112 a0002c0030t0005g0121 a0007c0071t0005g0108 a0008c0041t0005g0124 a0009c0097t0034g0052 a0038c0037t0005g0135 a0049c0034t0005g0122	10	158	0.0633	30	c.437 others(49): Show c.4377+1595_4377+1596insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	33/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62106156	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0009 a0009	a0009c0052 a0009c0052	a0009c0052t0003 a0009c0052t0003	a0009c0052t0003g0088 a0009c0052t0003g0088	1	158	0.0063	30	c.437 others(49): Show c.4378-2280_4378-2279insATATATATATATATATATATATATAT ATAT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	33/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62106158	G G	GTGTGTGT others(23): Show GTGTGTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0059 a0001c0059	a0001c0059t0009 a0001c0059t0009	a0001c0059t0009g0045 a0001c0059t0009g0045	1	158	0.0063	30	c.437 others(49): Show c.4378-2278_4378-2277insGTGTGTGTATATATATATATATATAT ATAT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	33/43		INFO_REALIGN_3_PRIME	chr1	TogoVar

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