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
PRPF4B_chr6_4016300_4069983	4047901	TACACACA others(15): Show TACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0019 a0004c0013t0019	a0004c0013t0019g0291 a0004c0013t0019g0291	1	368	0.0027	-22	c.193 others(39): Show c.1935+677_1935+698delCACACACACACACACACACACA	PRPF4B	ENSG00000112739.17	transcript	ENST00000337659.11	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr6	TogoVar
PRPF4_chr9_113270658_113297905	113285343	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG03831.hp1 NA18966.hp2 others(4): Show HG02004.hp1 HG03831.hp1 NA18966.hp2 NA18968.hp2 NA19001.hp2 NA19006.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0003 a0001c0001t0001 a0001c0001t0004 a0001c0002t0003	a0001c0001t0001g0148 a0001c0001t0001g0187 a0001c0001t0004g0091 others(3): Show a0001c0001t0001g0148 a0001c0001t0001g0187 a0001c0001t0004g0091 a0001c0002t0003g0058 a0001c0002t0003g0231 a0001c0002t0003g0232	7	426	0.0164	-22	c.750 others(37): Show c.750-857_750-836delTTTTTTTTTTTTTTTTTTTTTT	PRPF4	ENSG00000136875.13	transcript	ENST00000374198.5	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRPH2_chr6_42691598_42727597	42705581	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA19079.hp1 NA18940.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0162 a0001c0001t0002g0098 a0001c0001t0002g0162	2	392	0.0051	-22	c.582 others(37): Show c.582-992_582-971delATATTTTTTTTTTTTTTTTTTT	PRPH2	ENSG00000112619.8	transcript	ENST00000230381.7	protein_coding	1/2			chr6	TogoVar
PRPH2_chr6_42691598_42727597	42705583	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02818.hp2 HG06807.hp2 others(2): Show HG02630.hp1 HG02818.hp2 HG06807.hp2 NA18951.hp2 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0001t0001 a0001c0001t0002 a0001c0002t0002	a0001c0001t0001g0006 a0001c0001t0001g0027 a0001c0001t0002g0154 others(1): Show a0001c0001t0001g0006 a0001c0001t0001g0027 a0001c0001t0002g0154 a0001c0002t0002g0224	5	392	0.0128	-22	c.582 others(37): Show c.582-994_582-973delATATATTTTTTTTTTTTTTTTT	PRPH2	ENSG00000112619.8	transcript	ENST00000230381.7	protein_coding	1/2			chr6	TogoVar
PRR13_chr12_53436734_53451638	53440987	AAAAAAAA others(15): Show AAAAAAAAAAGGGAGGCCATTGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01891.hp1 others(4): Show HG01167.hp2 HG01169.hp2 HG01891.hp1 HG02257.hp2 HG02723.hp1 HG02723.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0007 a0001c0001t0004g0033 a0001c0001t0006g0030 a0001c0001t0004g0007 a0001c0001t0004g0033 a0001c0001t0006g0030	7	388	0.0180	-22	c.-82 others(31): Show c.-825_-804delAAAAAAAAAGGGAGGCCATTGT	PRR13	ENSG00000205352.11	transcript	ENST00000429243.7	protein_coding		746		chr12	TogoVar
PRR20E_chr13_57162197_57175218	57164155	GCCACTAT others(15): Show GCCACTATCTTCTTGCTGTATAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0025 a0001c0001t0006g0025	1	258	0.0039	-22	c.-32 others(33): Show c.-3274_-3253delCCACTATCTTCTTGCTGTATAT	PRR20E	ENSG00000234278.3	transcript	ENST00000434815.1	protein_coding		3041		chr13	TogoVar
PRR23C_chr3_139037102_139049892	139047999	GATATATA others(15): Show GATATATATATATATATATATAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01243.hp1 HG01891.hp2 others(11): Show HG00738.hp1 HG01243.hp1 HG01891.hp2 HG02523.hp2 HG02572.hp1 HG02965.hp1 HG02970.hp2 HG03927.hp2 NA18966.hp1 NA18987.hp2 NA19003.hp2 NA19074.hp1 NA19089.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006	a0001c0001t0001g0000 a0001c0002t0002g0000 a0001c0002t0003g0000 others(1): Show a0001c0001t0001g0000 a0001c0002t0002g0000 a0001c0002t0003g0000 a0001c0002t0006g0000	14	426	0.0329	-22	c.-34 others(33): Show c.-3401_-3380delATATATATATATATATATATAT	PRR23C	ENSG00000233701.3	transcript	ENST00000413199.1	protein_coding		3108		chr3	TogoVar
PRR5_chr22_44697204_44742681	44742345	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02451.hp1 HG02486.hp1 others(9): Show HG02257.hp1 HG02451.hp1 HG02486.hp1 HG02622.hp2 HG02886.hp1 HG02895.hp1 HG02976.hp2 HG03098.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0002t0005 a0001c0002t0008 others(4): Show a0001c0001t0009 a0001c0002t0005 a0001c0002t0008 a0001c0002t0009 a0001c0002t0010 a0001c0002t0017 a0001c0002t0026	a0001c0001t0009g0025 a0001c0002t0005g0185 a0001c0002t0005g0251 others(9): Show a0001c0001t0009g0025 a0001c0002t0005g0185 a0001c0002t0005g0251 a0001c0002t0008g0410 a0001c0002t0009g0413 a0001c0002t0010g0019 a0001c0002t0010g0089 a0001c0002t0010g0405 a0001c0002t0010g0406 a0001c0002t0017g0037 a0001c0002t0017g0038 a0001c0002t0026g0061	12	442	0.0272	-22	c.50 others(33): Show c.5099_*5120delTTTTTTTTTTTTTTTTTTTTTT	PRR5	ENSG00000186654.21	transcript	ENST00000336985.11	protein_coding		4665		chr22	TogoVar
PRRC2B_chr9_131389086_131505193	131504755	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02723.hp2 HG03225.hp1 others(2): Show HG02055.hp1 HG02723.hp2 HG03225.hp1 HG03540.hp2 NA20129.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0010 a0002c0007t0014 a0002c0007t0010 a0002c0007t0014	a0002c0007t0010g0201 a0002c0007t0010g0202 a0002c0007t0010g0203 others(2): Show a0002c0007t0010g0201 a0002c0007t0010g0202 a0002c0007t0010g0203 a0002c0007t0014g0002 a0002c0007t0014g0012	5	216	0.0232	-22	c.88 others(33): Show c.8882_*8903delTGTGTGTGTGTGTGTGTGTGTG	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding		4563		chr9	TogoVar
PRRG3_chrX_151690458_151710924	151703856	GGTTTTTT others(15): Show GGTTTTTTTTTTTTTTTTTTTTT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0096 a0001c0001t0096	a0001c0001t0096g0031 a0001c0001t0096g0031	1	336	0.0030	-22	c.28 others(33): Show c.2824_*2845delGTTTTTTTTTTTTTTTTTTTTT	PRRG3	ENSG00000130032.17	transcript	ENST00000674457.1	protein_coding	4/4	2824		chrX	TogoVar
PRRG3_chrX_151690458_151710924	151703892	TTTTTTTT others(15): Show TTTTTTTTTTTTTTTTTTTTTTG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0105 a0002c0002t0105	a0002c0002t0105g0003 a0002c0002t0105g0003	1	336	0.0030	-22	c.28 others(33): Show c.2861_*2882delTTTTTTTTTTTTTTTTTTTTGT	PRRG3	ENSG00000130032.17	transcript	ENST00000674457.1	protein_coding	4/4	2861	INFO_REALIGN_3_PRIME	chrX	TogoVar
PRRG3_chrX_151690458_151710924	151703894	TTTTTTTT others(15): Show TTTTTTTTTTTTTTTTTTTTGTG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0176 a0001c0001t0176	a0001c0001t0176g0002 a0001c0001t0176g0002	1	336	0.0030	-22	c.28 others(33): Show c.2863_*2884delTTTTTTTTTTTTTTTTTTGTGT	PRRG3	ENSG00000130032.17	transcript	ENST00000674457.1	protein_coding	4/4	2863	INFO_REALIGN_3_PRIME	chrX	TogoVar
PRRG3_chrX_151690458_151710924	151703904	TTTTTTTT others(15): Show TTTTTTTTTTGTGTGTGTGTGTG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18941.hp2 NA18986.hp1 NA18941.hp2 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0086 a0001c0001t0178 a0001c0001t0086 a0001c0001t0178	a0001c0001t0086g0001 a0001c0001t0178g0002 a0001c0001t0086g0001 a0001c0001t0178g0002	2	336	0.0060	-22	c.28 others(33): Show c.2873_*2894delTTTTTTTTGTGTGTGTGTGTGT	PRRG3	ENSG00000130032.17	transcript	ENST00000674457.1	protein_coding	4/4	2873	INFO_REALIGN_3_PRIME	chrX	TogoVar
PRRT1B_chr9_131540523_131564815	131564293	TATACACA others(15): Show TATACACATATATATGTATATAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0115 a0001c0002t0005g0115	1	458	0.0022	-22	c.60 others(33): Show c.6092_*6113delATACACATATATATGTATATAC	PRRT1B	ENSG00000283526.2	transcript	ENST00000636672.2	protein_coding		4479		chr9	TogoVar
PRRT4_chr7_128345325_128366690	128346632	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTCTCTCTA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0014 a0001c0005t0005g0014	1	448	0.0022	-22	c.42 others(33): Show c.4202_*4223delTAGAGAGAGAGAGAGAGAGAGA	PRRT4	ENSG00000224940.10	transcript	ENST00000446477.7	protein_coding		3692		chr7	TogoVar
PRRT4_chr7_128345325_128366690	128346636	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTCTATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG02735.hp2 HG02602.hp1 HG02735.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0001 a0002c0001t0001 a0001c0003t0001 a0002c0001t0001	a0001c0003t0001g0044 a0002c0001t0001g0193 a0001c0003t0001g0044 a0002c0001t0001g0193	2	448	0.0045	-22	c.41 others(33): Show c.4198_*4219delTATATAGAGAGAGAGAGAGAGA	PRRT4	ENSG00000224940.10	transcript	ENST00000446477.7	protein_coding		3688		chr7	TogoVar
PRRT4_chr7_128345325_128366690	128346638	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG03130.hp1 HG01993.hp2 HG03130.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0001 a0002c0001t0001 a0001c0003t0001 a0002c0001t0001	a0001c0003t0001g0081 a0002c0001t0001g0197 a0001c0003t0001g0081 a0002c0001t0001g0197	2	448	0.0045	-22	c.41 others(33): Show c.4196_*4217delTATATATAGAGAGAGAGAGAGA	PRRT4	ENSG00000224940.10	transcript	ENST00000446477.7	protein_coding		3686		chr7	TogoVar
PRRT4_chr7_128345325_128366690	128346640	CTCTCTCT others(15): Show CTCTCTCTCTCTCTATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 NA19012.hp2 NA19086.hp1 HG00733.hp2 NA19012.hp2 NA19086.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0001 a0003c0004 a0001c0002 a0002c0001 a0003c0004	a0001c0002t0002 a0002c0001t0001 a0003c0004t0001 a0001c0002t0002 a0002c0001t0001 a0003c0004t0001	a0001c0002t0002g0001 a0002c0001t0001g0003 a0003c0004t0001g0103 a0001c0002t0002g0001 a0002c0001t0001g0003 a0003c0004t0001g0103	3	448	0.0067	-22	c.41 others(33): Show c.4194_*4215delTATATATATAGAGAGAGAGAGA	PRRT4	ENSG00000224940.10	transcript	ENST00000446477.7	protein_coding		3684		chr7	TogoVar
PRRT4_chr7_128345325_128366690	128346642	CTCTCTCT others(15): Show CTCTCTCTCTCTATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG01175.hp1 HG02055.hp1 others(2): Show HG00323.hp2 HG01175.hp1 HG02055.hp1 NA18950.hp1 NA18956.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0002c0001 others(1): Show a0001c0002 a0001c0003 a0002c0001 a0003c0012	a0001c0002t0003 a0001c0003t0001 a0002c0001t0001 others(1): Show a0001c0002t0003 a0001c0003t0001 a0002c0001t0001 a0003c0012t0001	a0001c0002t0003g0265 a0001c0003t0001g0094 a0002c0001t0001g0003 others(2): Show a0001c0002t0003g0265 a0001c0003t0001g0094 a0002c0001t0001g0003 a0002c0001t0001g0012 a0003c0012t0001g0038	5	448	0.0112	-22	c.41 others(33): Show c.4192_*4213delTATATATATATAGAGAGAGAGA	PRRT4	ENSG00000224940.10	transcript	ENST00000446477.7	protein_coding		3682		chr7	TogoVar
PRRT4_chr7_128345325_128366690	128346644	CTCTCTCT others(15): Show CTCTCTCTCTATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02572.hp1 NA18906.hp2 others(3): Show HG02083.hp1 HG02572.hp1 NA18906.hp2 NA18964.hp2 NA18995.hp1 NA19067.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0003 a0001c0005 a0002c0001 others(2): Show a0001c0003 a0001c0005 a0002c0001 a0003c0004 a0004c0010	a0001c0003t0001 a0001c0005t0005 a0002c0001t0001 others(2): Show a0001c0003t0001 a0001c0005t0005 a0002c0001t0001 a0003c0004t0001 a0004c0010t0004	a0001c0003t0001g0037 a0001c0005t0005g0020 a0002c0001t0001g0012 others(3): Show a0001c0003t0001g0037 a0001c0005t0005g0020 a0002c0001t0001g0012 a0002c0001t0001g0061 a0003c0004t0001g0150 a0004c0010t0004g0118	6	448	0.0134	-22	c.41 others(33): Show c.4190_*4211delTATATATATATATAGAGAGAGA	PRRT4	ENSG00000224940.10	transcript	ENST00000446477.7	protein_coding		3680		chr7	TogoVar
PRRT4_chr7_128345325_128366690	128346646	CTCTCTCT others(15): Show CTCTCTCTATATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG02155.hp1 HG02615.hp1 others(4): Show HG01081.hp1 HG02155.hp1 HG02615.hp1 HG03688.hp1 NA18747.hp1 NA18966.hp2 NA19000.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0002 a0001c0008 a0002c0001 others(2): Show a0001c0002 a0001c0008 a0002c0001 a0004c0006 a0005c0009	a0001c0002t0002 a0001c0002t0003 a0001c0008t0004 others(4): Show a0001c0002t0002 a0001c0002t0003 a0001c0008t0004 a0002c0001t0001 a0002c0001t0006 a0004c0006t0001 a0005c0009t0006	a0001c0002t0002g0062 a0001c0002t0003g0065 a0001c0008t0004g0017 others(4): Show a0001c0002t0002g0062 a0001c0002t0003g0065 a0001c0008t0004g0017 a0002c0001t0001g0145 a0002c0001t0006g0086 a0004c0006t0001g0046 a0005c0009t0006g0088	7	448	0.0156	-22	c.41 others(33): Show c.4188_*4209delTATATATATATATATAGAGAGA	PRRT4	ENSG00000224940.10	transcript	ENST00000446477.7	protein_coding		3678		chr7	TogoVar
PRRT4_chr7_128345325_128366690	128346648	CTCTCTAT others(15): Show CTCTCTATATATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG02735.hp1 HG04228.hp1 others(1): Show HG00423.hp1 HG02735.hp1 HG04228.hp1 NA18956.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0001 a0001c0002t0002 a0001c0003t0001	a0001c0002t0002g0001 a0001c0002t0002g0062 a0001c0003t0001g0027 others(1): Show a0001c0002t0002g0001 a0001c0002t0002g0062 a0001c0003t0001g0027 a0001c0003t0001g0192	4	448	0.0089	-22	c.41 others(33): Show c.4186_*4207delTATATATATATATATATAGAGA	PRRT4	ENSG00000224940.10	transcript	ENST00000446477.7	protein_coding		3676		chr7	TogoVar
PRRT4_chr7_128345325_128366690	128346650	CTCTATAT others(15): Show CTCTATATATATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp2 NA18984.hp2 NA19081.hp2 NA18982.hp2 NA18984.hp2 NA19081.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0002t0003 a0001c0003t0003 a0001c0002t0002 a0001c0002t0003 a0001c0003t0003	a0001c0002t0002g0243 a0001c0002t0003g0002 a0001c0003t0003g0232 a0001c0002t0002g0243 a0001c0002t0003g0002 a0001c0003t0003g0232	3	448	0.0067	-22	c.41 others(33): Show c.4184_*4205delTATATATATATATATATATAGA	PRRT4	ENSG00000224940.10	transcript	ENST00000446477.7	protein_coding		3674		chr7	TogoVar
PRRT4_chr7_128345325_128366690	128346652	CTATATAT others(15): Show CTATATATATATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	1	448	0.0022	-22	c.41 others(33): Show c.4182_*4203delTATATATATATATATATATATA	PRRT4	ENSG00000224940.10	transcript	ENST00000446477.7	protein_coding		3672		chr7	TogoVar
PRRX1_chr1_170659131_170744421	170689817	TCTCTCTC others(15): Show TCTCTCTCTCTCTCTCTCTCTCC	T T	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02486.hp1 HG03098.hp2 others(3): Show HG02027.hp2 HG02486.hp1 HG03098.hp2 NA19000.hp2 NA19004.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0035 a0001c0001t0002 a0001c0001t0013 a0001c0001t0035	a0001c0001t0002g0187 a0001c0001t0002g0231 a0001c0001t0002g0279 others(2): Show a0001c0001t0002g0187 a0001c0001t0002g0231 a0001c0001t0002g0279 a0001c0001t0013g0006 a0001c0001t0035g0149	6	356	0.0169	-22	c.241 others(41): Show c.241+25380_241+25401delCCTCTCTCTCTCTCTCTCTCTC	PRRX1	ENSG00000116132.12	transcript	ENST00000239461.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRRX2_chr9_129660647_129727674	129684502	ACACACAC others(15): Show ACACACACACACACACACACACC	A A	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18986.hp2 NA18951.hp1 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0095 a0001c0001t0002g0056 a0001c0001t0002g0095	2	358	0.0056	-22	c.259 others(41): Show c.259+18386_259+18407delACACACACACACCCACACACAC	PRRX2	ENSG00000167157.11	transcript	ENST00000372469.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRX2_chr9_129660647_129727674	129723680	ACTTTCTT others(15): Show ACTTTCTTTTTCTTTCTTTCTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0315 a0001c0001t0002g0315	1	358	0.0028	-22	c.13 others(33): Show c.1329_*1350delCTTTCTTTTTCTTTCTTTCTTT	PRRX2	ENSG00000167157.11	transcript	ENST00000372469.6	protein_coding		1007		chr9	TogoVar
PRSS38_chr1_227810675_227851470	227844904	GCTCCTCC others(15): Show GCTCCTCCCTATGTGTGGTGGGA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(118): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp2 HG00438.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00738.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01361.hp1 HG01433.hp1 HG01515.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02129.hp2 HG02145.hp1 HG02165.hp1 HG02257.hp1 HG02273.hp1 HG02523.hp1 HG02559.hp1 HG02622.hp1 HG02698.hp1 HG02738.hp2 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03139.hp1 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18943.hp2 NA18947.hp1 NA18948.hp2 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18960.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18970.hp1 NA18973.hp1 NA18974.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp2 NA18985.hp1 NA18990.hp2 NA18991.hp2 NA18994.hp1 NA18997.hp1 NA18999.hp1 NA19002.hp1 NA19004.hp1 NA19063.hp1 NA19064.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp2 NA19078.hp2 NA19079.hp2 NA19082.hp1 NA19083.hp1 NA19085.hp1 NA19087.hp2 NA19091.hp2 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp2	a0001 a0010 a0011 others(2): Show a0001 a0010 a0011 a0017 a0021	a0001c0001 a0001c0007 a0001c0017 others(5): Show a0001c0001 a0001c0007 a0001c0017 a0001c0027 a0010c0015 a0011c0014 a0017c0025 a0021c0019	a0001c0001t0001 a0001c0007t0001 a0001c0017t0001 others(5): Show a0001c0001t0001 a0001c0007t0001 a0001c0017t0001 a0001c0027t0001 a0010c0015t0001 a0011c0014t0001 a0017c0025t0001 a0021c0019t0001	a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0009 others(75): Show a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0026 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0094 a0001c0001t0001g0102 a0001c0001t0001g0124 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0232 a0001c0001t0001g0236 a0001c0007t0001g0013 a0001c0007t0001g0052 a0001c0007t0001g0174 a0001c0007t0001g0183 a0001c0007t0001g0186 a0001c0007t0001g0190 a0001c0017t0001g0191 a0001c0017t0001g0192 a0001c0027t0001g0051 a0010c0015t0001g0025 a0011c0014t0001g0012 a0011c0014t0001g0178 a0011c0014t0001g0182 a0017c0025t0001g0009 a0021c0019t0001g0152	121	450	0.2689	-22	c.584 others(37): Show c.584-525_584-504delGGGACTCCTCCCTATGTGTGGT	PRSS38	ENSG00000185888.6	transcript	ENST00000366757.4	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRSS48_chr4_151272161_151296862	151280401	ACTGCAGC others(15): Show ACTGCAGCTCACCTTGATTGCAG	A A	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA19068.hp1 NA18747.hp1 NA19068.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0114 a0002c0004t0001g0115 a0002c0004t0001g0114 a0002c0004t0001g0115	2	428	0.0047	-22	c.215 others(37): Show c.215+467_215+488delTGCAGCTCACCTTGATTGCAGC	PRSS48	ENSG00000189099.12	transcript	ENST00000455694.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
PRTFDC1_chr10_24843614_24957606	24895688	GATATATA others(15): Show GATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0169 a0001c0001t0003g0170	2	338	0.0059	-22	c.340 others(41): Show c.340-23647_340-23626delATATATATATATATATATATAT	PRTFDC1	ENSG00000099256.19	transcript	ENST00000320152.11	protein_coding	3/8			chr10	TogoVar
PRTG_chr15_55606544_55748152	55612697	AATATATA others(15): Show AATATATATATATATATATATAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp1 HG01071.hp1 HG02148.hp2 others(6): Show HG00323.hp1 HG01071.hp1 HG02148.hp2 HG03098.hp2 HG03130.hp2 NA18944.hp1 NA18966.hp1 NA18966.hp2 NA19043.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0015	a0001c0001 a0002c0002 a0005c0010 others(1): Show a0001c0001 a0002c0002 a0005c0010 a0015c0022	a0001c0001t0109 a0002c0002t0021 a0002c0002t0026 others(5): Show a0001c0001t0109 a0002c0002t0021 a0002c0002t0026 a0002c0002t0099 a0002c0002t0105 a0005c0010t0026 a0005c0010t0064 a0015c0022t0123	a0001c0001t0109g0232 a0002c0002t0021g0010 a0002c0002t0021g0053 others(6): Show a0001c0001t0109g0232 a0002c0002t0021g0010 a0002c0002t0021g0053 a0002c0002t0026g0078 a0002c0002t0099g0174 a0002c0002t0105g0212 a0005c0010t0026g0065 a0005c0010t0064g0072 a0015c0022t0123g0283	9	284	0.0317	-22	c.72 others(33): Show c.7293_*7314delATATATATATATATATATATAT	PRTG	ENSG00000166450.13	transcript	ENST00000389286.9	protein_coding	20/20	7293		chr15	TogoVar
PRTG_chr15_55606544_55748152	55629367	ATATATAT others(15): Show ATATATATATGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0120 a0002c0002t0120	a0002c0002t0120g0236 a0002c0002t0120g0236	1	284	0.0035	-22	c.262 others(39): Show c.2624-385_2624-364delCACACACACACACATATATATA	PRTG	ENSG00000166450.13	transcript	ENST00000389286.9	protein_coding	15/19			chr15	TogoVar
PRTG_chr15_55606544_55748152	55629373	ATATGTGT others(15): Show ATATGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0256 a0001c0001t0004g0256	1	284	0.0035	-22	c.262 others(39): Show c.2624-391_2624-370delCACACACACACACACACACATA	PRTG	ENSG00000166450.13	transcript	ENST00000389286.9	protein_coding	15/19			chr15	TogoVar
PRTG_chr15_55606544_55748152	55670902	AACACACA others(15): Show AACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01358.hp2 HG02615.hp1 others(10): Show HG00099.hp1 HG01358.hp2 HG02615.hp1 HG03239.hp1 HG03453.hp1 HG03486.hp2 NA18906.hp2 NA18948.hp2 NA18973.hp1 NA19030.hp1 NA19043.hp1 NA20129.hp2 NA20805.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0008 a0001c0009 others(2): Show a0001c0001 a0001c0008 a0001c0009 a0004c0005 a0004c0006	a0001c0001t0001 a0001c0001t0008 a0001c0001t0109 others(8): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0109 a0001c0008t0038 a0001c0008t0083 a0001c0008t0103 a0001c0009t0049 a0001c0009t0097 a0004c0005t0047 a0004c0005t0048 a0004c0006t0046	a0001c0001t0001g0155 a0001c0001t0001g0177 a0001c0001t0008g0207 others(10): Show a0001c0001t0001g0155 a0001c0001t0001g0177 a0001c0001t0008g0207 a0001c0001t0109g0232 a0001c0008t0038g0209 a0001c0008t0038g0210 a0001c0008t0083g0121 a0001c0008t0103g0208 a0001c0009t0049g0035 a0001c0009t0097g0112 a0004c0005t0047g0037 a0004c0005t0048g0036 a0004c0006t0046g0012	13	284	0.0458	-22	c.204 others(41): Show c.2041+1521_2041+1542delGTGTGTGTGTGTGTGTGTGTGT	PRTG	ENSG00000166450.13	transcript	ENST00000389286.9	protein_coding	11/19			chr15	TogoVar
PRX_chr19_40388768_40418378	40399883	CTTTCTTT others(15): Show CTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00741.hp2 HG01123.hp2 others(10): Show HG00642.hp2 HG00741.hp2 HG01123.hp2 HG02055.hp2 HG02258.hp1 HG02300.hp1 HG02615.hp2 HG02717.hp2 HG02976.hp1 HG03453.hp2 HG03486.hp1 NA19030.hp2 NA19043.hp1	a0002 a0007 a0009 others(4): Show a0002 a0007 a0009 a0012 a0014 a0027 a0031	a0002c0002 a0007c0007 a0009c0009 others(4): Show a0002c0002 a0007c0007 a0009c0009 a0012c0012 a0014c0017 a0027c0018 a0031c0021	a0002c0002t0001 a0002c0002t0003 a0007c0007t0001 others(5): Show a0002c0002t0001 a0002c0002t0003 a0007c0007t0001 a0009c0009t0001 a0012c0012t0001 a0014c0017t0001 a0027c0018t0001 a0031c0021t0001	a0002c0002t0001g0011 a0002c0002t0001g0097 a0002c0002t0001g0101 others(8): Show a0002c0002t0001g0011 a0002c0002t0001g0097 a0002c0002t0001g0101 a0002c0002t0001g0128 a0002c0002t0003g0191 a0007c0007t0001g0147 a0009c0009t0001g0085 a0012c0012t0001g0252 a0014c0017t0001g0010 a0027c0018t0001g0149 a0031c0021t0001g0058	13	306	0.0425	-22	c.185 others(39): Show c.185-1089_185-1068delAAGAAAGAAAGAAAGAAAGAAA	PRX	ENSG00000105227.16	transcript	ENST00000324001.8	protein_coding	5/6			chr19	TogoVar
PRX_chr19_40388768_40418378	40418206	TTTTCTTT others(15): Show TTTTCTTTTCTTTTCTTTCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0131 a0004c0004t0001g0131	1	306	0.0033	-22	c.-51 others(33): Show c.-5133_-5112delGGAAGAAAGAAAAGAAAAGAAA	PRX	ENSG00000105227.16	transcript	ENST00000324001.8	protein_coding		4829		chr19	TogoVar
PSD3_chr8_18522303_19018703	18823773	AACACACT others(15): Show AACACACTCACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00621.hp2 HG00738.hp1 others(38): Show HG00423.hp1 HG00621.hp2 HG00738.hp1 HG01081.hp2 HG01099.hp1 HG01256.hp1 HG01496.hp2 HG01891.hp1 HG02109.hp1 HG02109.hp2 HG02257.hp1 HG02258.hp2 HG02486.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp2 HG02809.hp2 HG02897.hp1 HG02922.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp2 HG06807.hp2 NA18522.hp2 NA18939.hp1 NA19060.hp1 NA19066.hp1 NA19074.hp2 NA20129.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0011	a0001c0001 a0001c0002 a0001c0013 others(16): Show a0001c0001 a0001c0002 a0001c0013 a0001c0014 a0001c0022 a0001c0028 a0002c0003 a0002c0005 a0002c0007 a0002c0011 a0002c0015 a0002c0029 a0002c0030 a0002c0031 a0003c0004 a0003c0008 a0004c0009 a0004c0010 a0011c0035	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0022 a0001c0001t0030 a0001c0001t0042 a0001c0001t0063 a0001c0001t0066 a0001c0001t0072 a0001c0001t0074 a0001c0002t0001 a0001c0002t0017 a0001c0002t0019 a0001c0013t0001 a0001c0014t0013 a0001c0014t0020 a0001c0022t0006 a0001c0028t0006 a0002c0003t0001 a0002c0003t0067 a0002c0005t0001 a0002c0007t0002 a0002c0007t0017 a0002c0007t0021 a0002c0011t0002 a0002c0011t0020 a0002c0011t0036 a0002c0015t0001 a0002c0029t0017 a0002c0030t0021 a0002c0031t0023 a0003c0004t0027 a0003c0008t0003 a0004c0009t0003 a0004c0010t0002 a0004c0010t0012 a0011c0035t0025	a0001c0001t0001g0048 a0001c0001t0002g0166 a0001c0001t0003g0198 others(38): Show a0001c0001t0001g0048 a0001c0001t0002g0166 a0001c0001t0003g0198 a0001c0001t0022g0193 a0001c0001t0030g0152 a0001c0001t0042g0158 a0001c0001t0063g0092 a0001c0001t0066g0103 a0001c0001t0072g0188 a0001c0001t0074g0006 a0001c0002t0001g0075 a0001c0002t0017g0181 a0001c0002t0019g0182 a0001c0013t0001g0007 a0001c0013t0001g0121 a0001c0014t0013g0180 a0001c0014t0020g0179 a0001c0022t0006g0196 a0001c0028t0006g0195 a0002c0003t0001g0052 a0002c0003t0001g0066 a0002c0003t0067g0138 a0002c0005t0001g0033 a0002c0007t0002g0131 a0002c0007t0002g0170 a0002c0007t0017g0105 a0002c0007t0021g0003 a0002c0011t0002g0127 a0002c0011t0020g0002 a0002c0011t0036g0160 a0002c0015t0001g0129 a0002c0029t0017g0176 a0002c0030t0021g0183 a0002c0031t0023g0192 a0003c0004t0027g0156 a0003c0008t0003g0015 a0004c0009t0003g0126 a0004c0010t0002g0134 a0004c0010t0002g0145 a0004c0010t0012g0118 a0011c0035t0025g0157	41	228	0.1798	-22	c.163 others(43): Show c.1635-18897_1635-18876delGTGTGTGTGTGTGTGAGTGTGT	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	4/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18865224	TTATATAT others(15): Show TTATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02451.hp1 NA18939.hp1 others(1): Show HG01243.hp2 HG02451.hp1 NA18939.hp1 NA18939.hp2	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0001 a0001c0002 a0002c0015 others(1): Show a0001c0001 a0001c0002 a0002c0015 a0012c0018	a0001c0001t0001 a0001c0002t0001 a0002c0015t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0002c0015t0001 a0012c0018t0056	a0001c0001t0001g0208 a0001c0002t0001g0143 a0002c0015t0001g0129 others(1): Show a0001c0001t0001g0208 a0001c0002t0001g0143 a0002c0015t0001g0129 a0012c0018t0056g0201	4	228	0.0175	-22	c.163 others(41): Show c.1634+2428_1634+2449delTATATATATATATATATATATA	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	4/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18916297	GATATATA others(15): Show GATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02083.hp1 HG02572.hp1 others(5): Show HG01891.hp2 HG02083.hp1 HG02572.hp1 HG02922.hp2 HG03225.hp1 HG03654.hp2 NA18939.hp1 NA19091.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0001c0002 a0002c0007 others(4): Show a0001c0001 a0001c0002 a0002c0007 a0002c0011 a0002c0015 a0004c0009 a0006c0020	a0001c0001t0072 a0001c0002t0001 a0002c0007t0017 others(5): Show a0001c0001t0072 a0001c0002t0001 a0002c0007t0017 a0002c0007t0031 a0002c0011t0020 a0002c0015t0001 a0004c0009t0076 a0006c0020t0059	a0001c0001t0072g0188 a0001c0002t0001g0012 a0002c0007t0017g0105 others(5): Show a0001c0001t0072g0188 a0001c0002t0001g0012 a0002c0007t0017g0105 a0002c0007t0031g0001 a0002c0011t0020g0002 a0002c0015t0001g0129 a0004c0009t0076g0155 a0006c0020t0059g0214	8	228	0.0351	-22	c.130 others(41): Show c.130+19715_130+19736delATATATATATATATATATATAT	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	2/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18991351	CATACACA others(15): Show CATACACACACACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00621.hp2 HG01074.hp2 others(24): Show HG00140.hp1 HG00621.hp2 HG01074.hp2 HG01952.hp2 HG01975.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02280.hp1 HG02300.hp1 HG02523.hp2 HG02622.hp2 HG02965.hp2 HG03831.hp2 HG03834.hp1 HG04228.hp1 NA18944.hp2 NA18959.hp1 NA18964.hp1 NA18981.hp2 NA18999.hp2 NA19005.hp1 NA19005.hp2 NA19030.hp1 NA19056.hp2 NA19066.hp2 NA19091.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0010	a0001c0001 a0001c0002 a0002c0003 others(4): Show a0001c0001 a0001c0002 a0002c0003 a0002c0005 a0003c0008 a0004c0006 a0010c0034	a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 others(18): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 a0001c0001t0047 a0001c0001t0057 a0001c0001t0061 a0001c0002t0001 a0001c0002t0009 a0001c0002t0038 a0002c0003t0001 a0002c0003t0010 a0002c0003t0018 a0002c0003t0034 a0002c0003t0040 a0002c0005t0001 a0002c0005t0007 a0002c0005t0016 a0002c0005t0070 a0003c0008t0024 a0004c0006t0001 a0010c0034t0001	a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0061 others(24): Show a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0005g0059 a0001c0001t0010g0045 a0001c0001t0047g0090 a0001c0001t0057g0065 a0001c0001t0061g0091 a0001c0002t0001g0062 a0001c0002t0001g0075 a0001c0002t0009g0088 a0001c0002t0038g0125 a0002c0003t0001g0074 a0002c0003t0001g0087 a0002c0003t0001g0089 a0002c0003t0010g0064 a0002c0003t0018g0204 a0002c0003t0034g0042 a0002c0003t0040g0080 a0002c0005t0001g0057 a0002c0005t0007g0086 a0002c0005t0016g0144 a0002c0005t0070g0073 a0003c0008t0024g0095 a0004c0006t0001g0041 a0004c0006t0001g0063 a0010c0034t0001g0058	27	228	0.1184	-22	c.21+ others(39): Show c.21+22190_21+22211delATGTGTGTGTGTGTGTGTGTAT	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	1/15			chr8	TogoVar
PSEN1_chr14_73131507_73228691	73218643	ACACAGCA others(15): Show ACACAGCATAAAGAATGCTCCCG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0294 a0001c0001t0004g0294	1	378	0.0027	-22	c.124 others(39): Show c.1249-481_1249-460delAAGAATGCTCCCGCACAGCATA	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSEN1_chr14_73131507_73228691	73218653	AAGAATGC others(15): Show AAGAATGCTCCCGCACAGCATAG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03453.hp1 HG03540.hp1 HG02818.hp1 HG03453.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0028 a0001c0001t0004 a0001c0001t0028	a0001c0001t0004g0291 a0001c0001t0004g0292 a0001c0001t0028g0293 a0001c0001t0004g0291 a0001c0001t0004g0292 a0001c0001t0028g0293	3	378	0.0079	-22	c.124 others(39): Show c.1249-473_1249-452delTCCCGCACAGCATAGAGAATGC	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSEN1_chr14_73131507_73228691	73226685	ATTTATAA others(15): Show ATTTATAAATTTATAATTTATAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp2 NA18965.hp1 NA18992.hp2 others(1): Show NA18947.hp2 NA18965.hp1 NA18992.hp2 NA19084.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0006 a0002c0005t0006 a0001c0001t0006 a0002c0005t0006	a0001c0001t0006g0272 a0001c0001t0006g0275 a0001c0001t0006g0281 others(1): Show a0001c0001t0006g0272 a0001c0001t0006g0275 a0001c0001t0006g0281 a0002c0005t0006g0274	4	378	0.0106	-22	c.73 others(33): Show c.7397_*7418delTTTATAAATTTATAATTTATAG	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding		2995		chr14	TogoVar
PSEN2_chr1_226865616_226901098	226880545	AGACAGCG others(15): Show AGACAGCGATCACTCAGCCTCTG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01168.hp2 HG01169.hp1 others(22): Show HG01109.hp2 HG01168.hp2 HG01169.hp1 HG02109.hp1 HG02145.hp1 HG02257.hp2 HG02451.hp2 HG02486.hp1 HG02622.hp1 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02976.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03516.hp2 NA18522.hp1 NA18906.hp2 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0015 a0001c0003 a0001c0005 a0001c0015	a0001c0003t0004 a0001c0005t0004 a0001c0005t0005 others(1): Show a0001c0003t0004 a0001c0005t0004 a0001c0005t0005 a0001c0015t0004	a0001c0003t0004g0027 a0001c0003t0004g0045 a0001c0003t0004g0170 others(10): Show a0001c0003t0004g0027 a0001c0003t0004g0045 a0001c0003t0004g0170 a0001c0003t0004g0172 a0001c0003t0004g0173 a0001c0003t0004g0174 a0001c0003t0004g0176 a0001c0005t0004g0021 a0001c0005t0004g0044 a0001c0005t0004g0171 a0001c0005t0005g0014 a0001c0005t0005g0070 a0001c0015t0004g0175	25	416	0.0601	-22	c.-20 others(39): Show c.-20-1289_-20-1268delCACTCAGCCTCTGGACAGCGAT	PSEN2	ENSG00000143801.18	transcript	ENST00000366783.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
PSG2_chr19_43059209_43087701	43081350	GACACACA others(15): Show GACACACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA19083.hp1 NA18973.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0183 a0001c0001t0001g0173 a0001c0001t0001g0183	2	424	0.0047	-22	c.65- others(35): Show c.65-126_65-105delGTGTGTGTGTGTGTGTGTGTGT	PSG2	ENSG00000242221.9	transcript	ENST00000406487.6	protein_coding	1/5			chr19	TogoVar
PSG8_chr19_42749233_42770678	42765890	GACACACA others(15): Show GACACACACACACACACACACAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03540.hp1 HG03540.hp2 HG03225.hp2 HG03540.hp1 HG03540.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0159 a0005c0007t0001g0160 a0005c0007t0001g0163 a0005c0007t0001g0159 a0005c0007t0001g0160 a0005c0007t0001g0163	3	438	0.0069	-22	c.-33 others(31): Show c.-331_-310delGTGTGTGTGTGTGTGTGTGTGT	PSG8	ENSG00000124467.20	transcript	ENST00000306511.5	protein_coding		213		chr19	TogoVar
PSMA8_chr18_26128869_26198355	26163213	GTATATAT others(15): Show GTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03516.hp2 NA21309.hp1 others(1): Show HG02886.hp2 HG03516.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0213 a0001c0001t0001g0214 others(1): Show a0001c0001t0001g0040 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215	4	268	0.0149	-22	c.477 others(39): Show c.477+4997_477+5018delATATATATATATATATATATAT	PSMA8	ENSG00000154611.15	transcript	ENST00000415576.7	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
PSMB2_chr1_35594541_35646526	35642214	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01884.hp2 HG02257.hp1 others(2): Show HG01243.hp2 HG01884.hp2 HG02257.hp1 HG03041.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0002 a0001c0001t0004g0042 a0001c0001t0005g0041 others(1): Show a0001c0001t0004g0002 a0001c0001t0004g0042 a0001c0001t0005g0041 a0001c0001t0005g0043	5	300	0.0167	-22	c.-80 others(31): Show c.-804_-783delTTTTTTTTTTTTTTTTTTTTTT	PSMB2	ENSG00000126067.12	transcript	ENST00000373237.4	protein_coding		689		chr1	TogoVar
PSMC1_chr14_90251553_90280429	90274787	TACACACA others(15): Show TACACACACACACACACACACAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02145.hp2 HG03017.hp2 HG02145.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0082 a0001c0004t0092 a0001c0001t0082 a0001c0004t0092	a0001c0001t0082g0142 a0001c0004t0092g0058 a0001c0001t0082g0142 a0001c0004t0092g0058	2	390	0.0051	-22	c.24 others(33): Show c.2411_*2432delACACACACACACACACACACAC	PSMC1	ENSG00000100764.14	transcript	ENST00000261303.13	protein_coding	11/11	2411	INFO_REALIGN_3_PRIME	chr14	TogoVar
PSMC3IP_chr17_42567310_42582729	42571997	TTTTGGCC others(15): Show TTTTGGCCCAAGTTTGGGCAACA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02818.hp1 HG06807.hp1 others(2): Show HG02809.hp1 HG02818.hp1 HG06807.hp1 NA19043.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0023 a0001c0003t0001g0017 a0001c0001t0001g0023 a0001c0003t0001g0017	5	388	0.0129	-22	c.94 others(31): Show c.949_*970delTGTTGCCCAAACTTGGGCCAAA	PSMC3IP	ENSG00000131470.15	transcript	ENST00000393795.8	protein_coding		312		chr17	TogoVar

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