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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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
PROZ_chr13_113153648_113177386	113162392	T T	TCATCCTC others(35): Show TCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	378	0.0027	42	c.260 others(57): Show c.260-455_260-414dupCTCCCCACATCCTCCTCCTGCTCAGGTCCC CGTCCCTGCCAC	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
PROZ_chr13_113153648_113177386	113162428	C C	CGCCCCAC others(35): Show CGCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACG	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0226 a0001c0001t0002g0226	1	378	0.0027	42	c.260 others(57): Show c.260-581_260-580insGCCCCACATCCTCCTCCTGCTCAGGTCCCC GTCCCTGCCACG	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7			chr13	TogoVar
PROZ_chr13_113153648_113177386	113162434	A A	ACATCCTC others(35): Show ACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01433.hp2 HG01891.hp1 others(10): Show HG00735.hp1 HG01433.hp2 HG01891.hp1 NA18940.hp1 NA18941.hp1 NA18944.hp1 NA18967.hp1 NA18984.hp1 NA18986.hp1 NA19010.hp2 NA19058.hp2 NA19070.hp2 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0002c0003t0001 a0001c0001t0001 a0001c0001t0002 a0002c0003t0001	a0001c0001t0001g0007 a0001c0001t0001g0055 a0001c0001t0001g0056 others(7): Show a0001c0001t0001g0007 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0142 a0001c0001t0002g0007 a0001c0001t0002g0074 a0001c0001t0002g0078 a0002c0003t0001g0146 a0002c0003t0001g0148	13	378	0.0344	42	c.260 others(57): Show c.260-540_260-539insGTCCCCTCATCCTCCTCCTGCTCAGGTCCC CGTCCCTGCCAC	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
PROZ_chr13_113153648_113177386	113162470	C C	CTCCCCAC others(35): Show CTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02135.hp1 HG02040.hp2 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0120 a0001c0001t0001g0052 a0001c0001t0001g0120	2	378	0.0053	42	c.260 others(57): Show c.260-498_260-497insGTCCCCACATCCTCCTCCTGCTCAGGTCCC CGTCCCTGCCAC	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
PROZ_chr13_113153648_113177386	113162476	A A	ACATCCTC others(35): Show ACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02280.hp2 HG03239.hp1 HG02015.hp2 HG02280.hp2 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0118 a0001c0001t0001g0141 a0001c0001t0001g0108 a0001c0001t0001g0118 a0001c0001t0001g0141	3	378	0.0079	42	c.260 others(57): Show c.260-498_260-497insGTCCCCTCATCCTCCTCCTGCTCAGGTCCC CGTCCCTGCCAC	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
PROZ_chr13_113153648_113177386	113162513	T T	TCCCCACA others(35): Show TCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01993.hp1 HG02027.hp1 others(6): Show HG00423.hp2 HG01993.hp1 HG02027.hp1 HG02080.hp2 HG02132.hp2 HG03491.hp1 HG03492.hp1 NA18994.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0234 others(4): Show a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0234 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0244	9	378	0.0238	42	c.260 others(57): Show c.260-455_260-454insGCCCCACATCCTCCTCCTGCTCAGGTCCCC GTCCCTGCCACC	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
PROZ_chr13_113153648_113177386	113162516	C C	CCACATCC others(35): Show CCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCT	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA19057.hp2 HG02080.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	2	378	0.0053	42	c.260 others(57): Show c.260-452_260-451insTCACATCCTCCTCCTGCTCAGGTCCCCGTC CCTGCCACCTCC	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
PROZ_chr13_113153648_113177386	113162560	A A	ACATCCTC others(35): Show ACATCCTCCTCCTGCTCAGCTCCCCGTCCCTGCCACGTCCCCC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	378	0.0027	42	c.260 others(57): Show c.260-431_260-430insCTCCCCGTCCCTGCCACGTCCCCCCATCCT CCTCCTGCTCAG	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
PROZ_chr13_113153648_113177386	113162560	A A	ACATCCTC others(35): Show ACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCC	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	378	0.0027	42	c.260 others(57): Show c.260-408_260-407insCCATCCTCCTCCTGCTCAGGTCCCCGTCCC TGCCACGTCCCC	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
PROZ_chr13_113153648_113177386	113162638	C C	CGCCCCAC others(35): Show CGCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACG	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	378	0.0027	42	c.260 others(57): Show c.260-371_260-370insGCCCCACATCCTCCTCCTGCTCAGGTCCCC GTCCCTGCCACG	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7			chr13	TogoVar
PROZ_chr13_113153648_113177386	113162638	C C	CTCCCCCC others(35): Show CTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0267 a0001c0001t0002g0267	1	378	0.0027	42	c.260 others(57): Show c.260-368_260-367insCCCCATCCTCCTCCTGCTCAGGTCCCCGTC CCTGCCACGTCC	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
PROZ_chr13_113153648_113177386	113162639	T T	TCCCCCCA others(35): Show TCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	378	0.0027	42	c.260 others(57): Show c.260-368_260-367insCCCCATCCTCCTCCTGCTCAGGTCCCCGTC CCTGCCACCGCC	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
PROZ_chr13_113153648_113177386	113162723	T T	TCCCCACA others(35): Show TCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02622.hp1 HG02615.hp2 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0122 a0001c0001t0001g0123	2	378	0.0053	42	c.260 others(57): Show c.260-246_260-245insCGCCCCACATCCTCCTCCTGCTCAGGTCCC CGTCCCTGCCAC	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
PROZ_chr13_113153648_113177386	113162728	A A	ACATCCTC others(35): Show ACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG01243.hp2 others(9): Show HG00140.hp2 HG00323.hp1 HG01243.hp2 HG01255.hp2 HG01934.hp1 HG02257.hp1 HG02258.hp1 HG02976.hp1 HG03239.hp1 HG03486.hp1 NA19030.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0026 a0001c0001t0001g0108 others(7): Show a0001c0001t0001g0011 a0001c0001t0001g0026 a0001c0001t0001g0108 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0225	12	378	0.0318	42	c.260 others(57): Show c.260-240_260-239insTCATCCTCCTCCTGCTCAGGTCCCCGTCCC TGCCACGTCCCC	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
PROZ_chr13_113153648_113177386	113162749	C C	CCCCCGTC others(35): Show CCCCCGTCCCTGCCACCGCCCCACATCCTCCTCCTGCTCAGGT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0227 a0001c0001t0002g0227	1	378	0.0027	42	c.260 others(57): Show c.260-257_260-256insCGTCCCTGCCACCGCCCCACATCCTCCTCC TGCTCAGGTCCC	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
PRPF31_chr19_54110754_54136713	54133779	C C	CTCCACCT others(35): Show CTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0006	1	227	0.0044	42	c.23 others(53): Show c.2347_*2348insTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCAC CTTCCCTG	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2067		chr19	TogoVar
PRPF31_chr19_54110754_54136713	54133923	C C	CCCCTCCC others(35): Show CCCCTCCCTCTCTTCCTCCCTCTCCACCTTCCCCTCTCTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	227	0.0044	42	c.24 others(53): Show c.2491_*2492insCCCTCCCTCTCTTCCTCCCTCTCCACCTTCCCCT CTCTCCCT	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2211		chr19	TogoVar
PRPF31_chr19_54110754_54136713	54133953	C C	CCTCCCTC others(35): Show CCTCCCTCCCTCTCTCCACCTTCCCTCTCTCCACCTCCCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01891.hp1 HG02258.hp1 others(23): Show HG01109.hp2 HG01891.hp1 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02922.hp1 HG02922.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03540.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0002 a0001c0001t0001 a0001c0004t0002	a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0023 others(18): Show a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0060 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0004t0002g0091	26	227	0.1145	42	c.25 others(53): Show c.2521_*2522insCTCCCTCCCTCTCTCCACCTTCCCTCTCTCCACC TCCCCTCT	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2241		chr19	TogoVar
PRPF38B_chr1_108687310_108707928	108689608	T T	TAACATTA others(35): Show TAACATTATATATATATATATATATATATATATATATAATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG03831.hp2 NA19060.hp2 HG00099.hp2 HG03831.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0002g0003 a0001c0001t0001g0002 a0001c0001t0002g0003	3	362	0.0083	42	c.-29 others(53): Show c.-2984_-2983insAACATTATATATATATATATATATATATATATAT ATAATGTG	PRPF38B	ENSG00000134186.12	transcript	ENST00000370025.9	protein_coding		2701		chr1	TogoVar
PRPS1_chrX_107623510_107656026	107623571	T T	TTCTTTCT others(35): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	245	0.0041	42	c.-50 others(53): Show c.-5058_-5057insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTC	PRPS1	ENSG00000147224.13	transcript	ENST00000372435.10	protein_coding		4938		chrX	TogoVar
PRR16_chr5_120459300_120692314	120512142	T T	TCTGCTGA others(35): Show TCTGCTGATCAGCTTTGCAGGCTCCCAGCCTTACCTAGAATCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(69): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00639.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp2 HG01255.hp2 HG01346.hp2 HG01358.hp1 HG01496.hp2 HG01884.hp1 HG02083.hp2 HG02109.hp1 HG02145.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02451.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02723.hp2 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03831.hp1 HG03831.hp2 NA18906.hp1 NA19007.hp2 NA19043.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0003t0001 a0002c0002t0001 a0003c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(69): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0035 a0001c0001t0001g0048 a0001c0001t0001g0091 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0144 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0002g0024 a0001c0001t0002g0123 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0003g0153 a0001c0001t0004g0006 a0001c0001t0004g0116 a0001c0003t0001g0126 a0002c0002t0001g0015 a0002c0002t0001g0036 a0002c0002t0001g0047 a0002c0002t0001g0101 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0169 a0003c0004t0001g0090	72	170	0.4235	42	c.159 others(61): Show c.159+47498_159+47499insTGCTGATCAGCTTTGCAGGCTCCCAG CCTTACCTAGAATCCC	PRR16	ENSG00000184838.15	transcript	ENST00000407149.7	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr5	TogoVar
PRR36_chr19_7863719_7879390	7877212	A A	ACTAAAGC others(35): Show ACTAAAGCCTACCCCACCATATCAGGCTAATTTTTAAATTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	386	0.0026	42	c.-29 others(53): Show c.-2935_-2934insAAAAATTTAAAAATTAGCCTGATATGGTGGGGTA GGCTTTAG	PRR36	ENSG00000183248.12	transcript	ENST00000618550.5	protein_coding		2823		chr19	TogoVar
PRRC2B_chr9_131389086_131505193	131420493	C C	CTTTCTTT others(35): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTT	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	216	0.0046	42	c.-51 others(59): Show c.-51-9598_-51-9597insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTTTTTTT	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRC2C_chr1_171480530_171598511	171569575	A A	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03453.hp2 HG03669.hp1 others(3): Show HG03195.hp1 HG03453.hp2 HG03669.hp1 NA18522.hp1 NA19030.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0035 a0001c0001t0001g0146 others(3): Show a0001c0001t0001g0004 a0001c0001t0001g0035 a0001c0001t0001g0146 a0001c0001t0001g0185 a0001c0001t0001g0277 a0001c0001t0001g0327	6	336	0.0179	42	c.665 others(61): Show c.6651+1254_6651+1255insATATATATATATATATATATATATAT ATATATATATATATAT	PRRC2C	ENSG00000117523.18	transcript	ENST00000647382.2	protein_coding	23/34		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRSS41_chr16_2793470_2810304	2795151	T T	TATACACA others(35): Show TATACACATACACATATATATATACATATATACATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0001 a0006c0007t0001g0001	1	426	0.0024	42	c.-33 others(53): Show c.-3334_-3333insATACACATACACATATATATATACATATATACAT ATATATAC	PRSS41	ENSG00000215148.11	transcript	ENST00000399677.5	protein_coding		3318		chr16	TogoVar
PRSS41_chr16_2793470_2810304	2795151	T T	TATATACA others(35): Show TATATACATACACATATATATATACATATATACATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 NA19043.hp2 NA20300.hp1 HG02109.hp1 NA19043.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0002c0002t0001g0034 a0002c0002t0001g0037 a0001c0001t0001g0001 a0002c0002t0001g0034 a0002c0002t0001g0037	3	426	0.0070	42	c.-33 others(53): Show c.-3334_-3333insATATACATACACATATATATATACATATATACAT ATATATAC	PRSS41	ENSG00000215148.11	transcript	ENST00000399677.5	protein_coding		3318		chr16	TogoVar
PRUNE2_chr9_76606376_76911114	76855082	A A	AAAAAAAA others(35): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0129	1	240	0.0042	42	c.37- others(55): Show c.37-875_37-874insATATATATATATATATTTTTTTTTTTTTTTTT TTTTTTTTTT	PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	1/18			chr9	TogoVar
PSAT1_chr9_78292125_78335093	78326955	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0228 a0001c0002t0003g0228	1	416	0.0024	42	c.870 others(59): Show c.870-1095_870-1094insATATATATATATATATATATATATATAT ATTTTTTTTTTTTT	PSAT1	ENSG00000135069.14	transcript	ENST00000376588.4	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
PSAT1_chr9_78292125_78335093	78326955	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0202 a0001c0001t0003g0202	1	416	0.0024	42	c.870 others(59): Show c.870-1095_870-1094insATATATATATATATATATATATATATTT TTTTTTTTTTTTTT	PSAT1	ENSG00000135069.14	transcript	ENST00000376588.4	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
PSMA3_chr14_58239843_58277004	58254333	C C	CATATATA others(35): Show CATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01081.hp1 HG01099.hp1 others(11): Show HG00741.hp2 HG01081.hp1 HG01099.hp1 HG02109.hp1 HG02523.hp1 HG02559.hp2 HG02809.hp2 HG03471.hp1 HG03471.hp2 NA18522.hp2 NA18960.hp1 NA18969.hp1 NA18999.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0050 others(6): Show a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0144 a0001c0001t0001g0146	14	332	0.0422	42	c.228 others(59): Show c.228+2101_228+2102insATATATATATATATATATATATATATAT ATATATATATATAT	PSMA3	ENSG00000100567.13	transcript	ENST00000216455.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSMA3_chr14_58239843_58277004	58254340	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATATGTATG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02129.hp2 HG02165.hp2 others(6): Show HG01433.hp1 HG02129.hp2 HG02165.hp2 HG02273.hp1 HG02293.hp1 HG02602.hp1 HG02965.hp2 HG03834.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0113 a0001c0001t0001g0172 a0001c0001t0001g0192 others(6): Show a0001c0001t0001g0113 a0001c0001t0001g0172 a0001c0001t0001g0192 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0273 a0001c0002t0001g0141	9	332	0.0271	42	c.228 others(59): Show c.228+2101_228+2102insATATATATATATATATATATATATATAT ATATATGTATGTAT	PSMA3	ENSG00000100567.13	transcript	ENST00000216455.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSMA3_chr14_58239843_58277004	58254340	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATGTATGTATG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	332	0.0030	42	c.228 others(59): Show c.228+2101_228+2102insATATATATATATATATATATATATATAT ATGTATGTATGTAT	PSMA3	ENSG00000100567.13	transcript	ENST00000216455.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSMC3_chr11_47413775_47431439	47429530	T T	TGGTGTGA others(35): Show TGGTGTGATCACAGCTTGCTGCAGCCTCCACTTCCCAGGCTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(358): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(108): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0017 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0003g0053 a0001c0001t0004g0076	361	380	0.9500	42	c.-32 others(53): Show c.-3252_-3251insTGAGCCTGGGAAGTGGAGGCTGCAGCAAGCTGTG ATCACACC	PSMC3	ENSG00000165916.9	transcript	ENST00000298852.8	protein_coding		3092		chr11	TogoVar
PSMD14_chr2_161303425_161416717	161389889	G G	GTTGTTTT others(35): Show GTTGTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02630.hp1 HG03098.hp2 others(2): Show HG01261.hp1 HG02630.hp1 HG03098.hp2 HG03453.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0156 a0001c0001t0002g0160 others(2): Show a0001c0001t0002g0154 a0001c0001t0002g0156 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162	5	268	0.0187	42	c.571 others(59): Show c.571-1213_571-1212insGTTTTTTTTTTTTTTTTTTTTTTGTTTT TTTTTTTTTTTTTT	PSMD14	ENSG00000115233.12	transcript	ENST00000409682.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
PSMD14_chr2_161303425_161416717	161389889	G G	GTTGTTTT others(35): Show GTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0087	1	268	0.0037	42	c.571 others(59): Show c.571-1213_571-1212insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	PSMD14	ENSG00000115233.12	transcript	ENST00000409682.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
PSMF1_chr20_1113602_1177246	1133569	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0155 a0001c0001t0021g0155	1	326	0.0031	42	c.366 others(59): Show c.366-1551_366-1550insATATATATATATATATATATATATATAT ATATATATTTTTTT	PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
PTBP2_chr1_96716784_96820049	96799294	C C	CTTTTTTT others(35): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 NA18967.hp2 HG01496.hp1 NA18967.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0008 a0001c0002t0001 a0001c0002t0008	a0001c0002t0001g0304 a0001c0002t0008g0289 a0001c0002t0001g0304 a0001c0002t0008g0289	2	364	0.0055	42	c.905 others(59): Show c.905-5487_905-5486insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	PTBP2	ENSG00000117569.20	transcript	ENST00000674951.1	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTBP3_chr9_112213435_112338619	112244289	C C	CAAAAAAA others(35): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0219 a0001c0001t0002g0219	1	342	0.0029	42	c.802 others(59): Show c.802+6639_802+6640insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	7/13			chr9	TogoVar
PTCH2_chr1_44816938_44848253	44830587	C C	CAAAAAAA others(35): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0150 a0001c0005t0001g0150	1	370	0.0027	42	c.813 others(57): Show c.813+260_813+261insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	PTCH2	ENSG00000117425.14	transcript	ENST00000372192.4	protein_coding	6/21			chr1	TogoVar
PTCHD4_chr6_47851673_48116197	48098318	T T	TTTCTTCT others(35): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02622.hp1 NA19003.hp2 HG02056.hp2 HG02622.hp1 NA19003.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0058 a0001c0002t0021 a0001c0002t0058	a0001c0002t0021g0014 a0001c0002t0021g0015 a0001c0002t0058g0016 a0001c0002t0021g0014 a0001c0002t0021g0015 a0001c0002t0058g0016	3	182	0.0165	42	c.-97 others(63): Show c.-970+12730_-970+12731insGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAA	PTCHD4	ENSG00000244694.8	transcript	ENST00000339488.9	protein_coding	1/4			chr6	TogoVar
PTDSS2_chr11_445279_496399	482766	A A	AGTTCTGT others(35): Show AGTTCTGTGAGTTTTTCGTAGATCTCCCTACCGAGTGGAGAAG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02280.hp2 HG02451.hp1 others(6): Show HG02109.hp2 HG02280.hp2 HG02451.hp1 HG02630.hp1 HG03471.hp1 NA18522.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0156 a0001c0001t0004g0157 a0001c0001t0004g0158 others(6): Show a0001c0001t0004g0156 a0001c0001t0004g0157 a0001c0001t0004g0158 a0001c0001t0004g0159 a0001c0001t0004g0161 a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0165 a0001c0001t0004g0306	9	346	0.0260	42	c.435 others(59): Show c.435+3657_435+3698dupGTTCTGTGAGTTTTTCGTAGATCTCCCT ACCGAGTGGAGAAG	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
PTDSS2_chr11_445279_496399	482976	A A	AGTTCTGT others(35): Show AGTTCTGTGAGTTTTTCGTAGATCTCCCTACCGAGTGGAGAAG	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18997.hp1 NA18954.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0285 a0001c0001t0001g0238 a0001c0001t0001g0285	2	346	0.0058	42	c.436 others(59): Show c.436-3632_436-3591dupGAGAAGGTTCTGTGAGTTTTTCGTAGAT CTCCCTACCGAGTG	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
PTDSS2_chr11_445279_496399	483228	G G	GTTTCTGT others(35): Show GTTTCTGTGAGTTTTTCGTAGATCTCCCTACCGAGTGCAGAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03486.hp1 HG02145.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0160 a0001c0001t0004g0162 a0001c0001t0004g0160 a0001c0001t0004g0162	2	346	0.0058	42	c.436 others(59): Show c.436-3711_436-3710insTTTCTGTGAGTTTTTCGTAGATCTCCCT ACCGAGTGCAGAAA	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	4/11			chr11	TogoVar
PTDSS2_chr11_445279_496399	485050	G G	GCAGGCGA others(35): Show GCAGGCGAGTGTAAACTGCACGGGCACGTGTGCTTACTGTGCA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0289	1	346	0.0029	42	c.436 others(59): Show c.436-1873_436-1832dupTGCACGGGCACGTGTGCTTACTGTGCAC AGGCGAGTGTAAAC	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
PTN_chr7_137222341_137348733	137324433	A A	AAAAAAAA others(35): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	296	0.0034	42	c.-2+ others(59): Show c.-2+19005_-2+19006insATATATATATATATATATATATATATAT TTTTTTTTTTTTTT	PTN	ENSG00000105894.13	transcript	ENST00000348225.7	protein_coding	1/4			chr7	TogoVar
PTPN18_chr2_130351056_130380405	130361524	T T	TTCTTTCT others(35): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0189 a0003c0005t0004g0189	1	380	0.0026	42	c.414 others(59): Show c.414+1879_414+1920dupTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTC	PTPN18	ENSG00000072135.13	transcript	ENST00000175756.10	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN18_chr2_130351056_130380405	130361528	T T	TTCTTTCT others(35): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03225.hp1 NA18522.hp1 others(1): Show HG03130.hp1 HG03225.hp1 NA18522.hp1 NA19043.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0032 a0003c0005t0004 a0003c0005t0032	a0003c0005t0004g0018 a0003c0005t0032g0018 a0003c0005t0004g0018 a0003c0005t0032g0018	4	380	0.0105	42	c.414 others(59): Show c.414+1920_414+1921insTTTCTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTC	PTPN18	ENSG00000072135.13	transcript	ENST00000175756.10	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN1_chr20_50505383_50590241	50524569	C C	CTTTTTTT others(35): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0266 a0001c0002t0001g0266	1	336	0.0030	42	c.63+ others(59): Show c.63+14004_63+14005insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	PTPN1	ENSG00000196396.10	transcript	ENST00000371621.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr20	TogoVar
PTPN23_chr3_47376021_47418435	47417894	G G	GGTGAGAG others(35): Show GGTGAGAGGGGGCGGGGGAGAAGTGAGAGGGGGCGGGGGAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0124 a0001c0005t0001g0124	1	332	0.0030	42	c.47 others(53): Show c.4709_*4710insGTGAGAGGGGGCGGGGGAGAAGTGAGAGGGGGCG GGGGAGAA	PTPN23	ENSG00000076201.16	transcript	ENST00000265562.5	protein_coding		4460		chr3	TogoVar
PTPN23_chr3_47376021_47418435	47417894	G G	GGTGAGGG others(35): Show GGTGAGGGGGCGGGGGAGGGGGGTGAGAGGGGGCGGGGGAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04204.hp2 HG04115.hp1 HG04204.hp2	a0002 a0005 a0002 a0005	a0002c0003 a0005c0007 a0002c0003 a0005c0007	a0002c0003t0001 a0005c0007t0001 a0002c0003t0001 a0005c0007t0001	a0002c0003t0001g0016 a0005c0007t0001g0016 a0002c0003t0001g0016 a0005c0007t0001g0016	2	332	0.0060	42	c.47 others(53): Show c.4709_*4710insGTGAGGGGGCGGGGGAGGGGGGTGAGAGGGGGCG GGGGAGAA	PTPN23	ENSG00000076201.16	transcript	ENST00000265562.5	protein_coding		4460		chr3	TogoVar

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