Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Results per page.

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
PRR5L_chr11_36291288_36470204	36351458	TATATATT others(16): Show TATATATTTATATATACATATATA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03453.hp1 HG03471.hp1 others(2): Show HG02055.hp1 HG03453.hp1 HG03471.hp1 NA20129.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0002c0004t0003 a0002c0004t0010 a0001c0001t0002 a0002c0004t0003 a0002c0004t0010	a0001c0001t0002g0070 a0002c0004t0003g0068 a0002c0004t0003g0069 others(2): Show a0001c0001t0002g0070 a0002c0004t0003g0068 a0002c0004t0003g0069 a0002c0004t0010g0151 a0002c0004t0010g0152	5	272	0.0184	-23	c.-12 others(44): Show c.-125-49538_-125-49516delATATATTTATATATACATATATA	PRR5L	ENSG00000135362.14	transcript	ENST00000530639.6	protein_coding	1/8			chr11	TogoVar
PRR5_chr22_44697204_44742681	44703318	AGTGGACA others(16): Show AGTGGACACTGTTCGGGGGAGGCT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01433.hp2 HG01891.hp1 others(20): Show HG01109.hp2 HG01433.hp2 HG01891.hp1 HG01934.hp1 HG02109.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02886.hp1 HG02897.hp1 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03579.hp1 HG03579.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 others(7): Show a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0002t0006 a0001c0002t0007 a0001c0002t0009 a0001c0002t0011 a0001c0002t0017 a0001c0002t0022 a0001c0004t0016	a0001c0001t0006g0027 a0001c0001t0006g0030 a0001c0001t0006g0034 others(20): Show a0001c0001t0006g0027 a0001c0001t0006g0030 a0001c0001t0006g0034 a0001c0001t0006g0035 a0001c0001t0006g0414 a0001c0001t0007g0024 a0001c0001t0007g0026 a0001c0001t0007g0029 a0001c0001t0007g0033 a0001c0001t0007g0036 a0001c0001t0009g0025 a0001c0001t0009g0412 a0001c0002t0006g0031 a0001c0002t0007g0022 a0001c0002t0007g0023 a0001c0002t0009g0004 a0001c0002t0009g0032 a0001c0002t0009g0413 a0001c0002t0011g0415 a0001c0002t0017g0037 a0001c0002t0017g0038 a0001c0002t0022g0004 a0001c0004t0016g0028	23	442	0.0520	-23	c.134 others(38): Show c.134+740_134+762delACTGTTCGGGGGAGGCTGTGGAC	PRR5	ENSG00000186654.21	transcript	ENST00000336985.11	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr22	TogoVar
PRRC2B_chr9_131389086_131505193	131420470	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0028 a0002c0008t0028	a0002c0008t0028g0126 a0002c0008t0028g0126	1	216	0.0046	-23	c.-51 others(40): Show c.-51-9621_-51-9599delCTTTCTTTCTTTCTTTCTTTCTT	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRG3_chrX_151690458_151710924	151703856	GGTTTTTT others(16): Show GGTTTTTTTTTTTTTTTTTTTTTT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02559.hp1 HG02818.hp2 NA18999.hp1 others(1): Show HG02559.hp1 HG02818.hp2 NA18999.hp1 NA20129.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0029 a0001c0001t0099 a0001c0001t0136 others(1): Show a0001c0001t0029 a0001c0001t0099 a0001c0001t0136 a0004c0004t0029	a0001c0001t0029g0029 a0001c0001t0099g0015 a0001c0001t0136g0001 others(1): Show a0001c0001t0029g0029 a0001c0001t0099g0015 a0001c0001t0136g0001 a0004c0004t0029g0023	4	336	0.0119	-23	c.28 others(34): Show c.2824_*2846delGTTTTTTTTTTTTTTTTTTTTTT	PRRG3	ENSG00000130032.17	transcript	ENST00000674457.1	protein_coding	4/4	2824		chrX	TogoVar
PRRG3_chrX_151690458_151710924	151703893	TTTTTTTT others(16): Show TTTTTTTTTTTTTTTTTTTTTGTG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0097 a0001c0001t0097	a0001c0001t0097g0051 a0001c0001t0097g0051	1	336	0.0030	-23	c.28 others(34): Show c.2862_*2884delTTTTTTTTTTTTTTTTTTTGTGT	PRRG3	ENSG00000130032.17	transcript	ENST00000674457.1	protein_coding	4/4	2862	INFO_REALIGN_3_PRIME	chrX	TogoVar
PRRG3_chrX_151690458_151710924	151703903	TTTTTTTT others(16): Show TTTTTTTTTTTGTGTGTGTGTGTG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18969.hp1 NA18999.hp2 NA18969.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0084 a0001c0001t0177 a0001c0001t0084 a0001c0001t0177	a0001c0001t0084g0002 a0001c0001t0177g0002 a0001c0001t0084g0002 a0001c0001t0177g0002	2	336	0.0060	-23	c.28 others(34): Show c.2872_*2894delTTTTTTTTTGTGTGTGTGTGTGT	PRRG3	ENSG00000130032.17	transcript	ENST00000674457.1	protein_coding	4/4	2872	INFO_REALIGN_3_PRIME	chrX	TogoVar
PRRT3_chr3_9940542_9957408	9940677	ACCATGGG others(16): Show ACCATGGGGAGAGGGAGAGGGAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG01952.hp2 HG01975.hp2 others(6): Show HG00558.hp1 HG01952.hp2 HG01975.hp2 HG03239.hp2 NA18747.hp2 NA18967.hp1 NA18971.hp1 NA18986.hp1 NA18988.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0004 a0005c0004t0019 a0005c0004t0004 a0005c0004t0019	a0005c0004t0004g0010 a0005c0004t0004g0058 a0005c0004t0019g0059 a0005c0004t0004g0010 a0005c0004t0004g0058 a0005c0004t0019g0059	9	378	0.0238	-23	c.55 others(34): Show c.5527_*5549delCCTCCCTCTCCCTCTCCCCATGG	PRRT3	ENSG00000163704.13	transcript	ENST00000412055.6	protein_coding		4864		chr3	TogoVar
PRRX2_chr9_129660647_129727674	129714020	ATGATTCC others(16): Show ATGATTCCATTGGTAGCTCACGCC	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01891.hp1 HG02258.hp1 others(2): Show HG01069.hp2 HG01891.hp1 HG02258.hp1 HG02615.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0002g0063 a0001c0001t0002g0295 a0001c0001t0002g0313 others(2): Show a0001c0001t0002g0063 a0001c0001t0002g0295 a0001c0001t0002g0313 a0001c0001t0003g0054 a0001c0001t0004g0293	5	358	0.0140	-23	c.260 others(40): Show c.260-5208_260-5186delATTCCATTGGTAGCTCACGCCTG	PRRX2	ENSG00000167157.11	transcript	ENST00000372469.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRSS12_chr4_118275038_118358003	118299742	AAAATAAA others(16): Show AAAATAAATAAAATAAATAAAATT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp2 HG00558.hp2 others(75): Show HG00099.hp2 HG00544.hp2 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00741.hp2 HG01109.hp1 HG01169.hp2 HG01243.hp2 HG01496.hp1 HG01496.hp2 HG01934.hp1 HG02040.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02698.hp2 HG02717.hp1 HG02922.hp2 HG02965.hp1 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03471.hp1 HG03471.hp2 HG03492.hp1 HG03540.hp1 HG03579.hp1 HG03704.hp1 HG04115.hp1 HG04228.hp1 NA18939.hp1 NA18940.hp2 NA18943.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18952.hp1 NA18953.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18969.hp1 NA18970.hp1 NA18973.hp2 NA18979.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18989.hp1 NA18994.hp1 NA19000.hp2 NA19001.hp2 NA19062.hp1 NA19064.hp1 NA19075.hp2 NA19076.hp2 NA19081.hp2 NA19084.hp1 NA19085.hp2 NA19088.hp2 NA20752.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0008	a0001c0004 a0002c0002 a0002c0020 others(2): Show a0001c0004 a0002c0002 a0002c0020 a0004c0007 a0008c0016	a0001c0004t0001 a0001c0004t0014 a0002c0002t0001 others(5): Show a0001c0004t0001 a0001c0004t0014 a0002c0002t0001 a0002c0002t0016 a0002c0002t0018 a0002c0020t0001 a0004c0007t0001 a0008c0016t0001	a0001c0004t0001g0036 a0001c0004t0001g0037 a0001c0004t0001g0038 others(65): Show a0001c0004t0001g0036 a0001c0004t0001g0037 a0001c0004t0001g0038 a0001c0004t0001g0039 a0001c0004t0001g0162 a0001c0004t0001g0179 a0001c0004t0001g0192 a0001c0004t0001g0193 a0001c0004t0001g0195 a0001c0004t0001g0243 a0001c0004t0001g0244 a0001c0004t0001g0245 a0001c0004t0001g0250 a0001c0004t0001g0251 a0001c0004t0001g0253 a0001c0004t0001g0254 a0001c0004t0001g0264 a0001c0004t0001g0265 a0001c0004t0001g0267 a0001c0004t0001g0272 a0001c0004t0001g0274 a0001c0004t0001g0279 a0001c0004t0001g0280 a0001c0004t0001g0281 a0001c0004t0001g0282 a0001c0004t0014g0273 a0002c0002t0001g0008 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0064 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0075 a0002c0002t0001g0079 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0105 a0002c0002t0001g0113 a0002c0002t0016g0146 a0002c0002t0018g0080 a0002c0020t0001g0100 a0004c0007t0001g0104 a0004c0007t0001g0107 a0004c0007t0001g0108 a0008c0016t0001g0045	78	364	0.2143	-23	c.163 others(40): Show c.1632-827_1632-805delAATTTTATTTATTTTATTTATTT	PRSS12	ENSG00000164099.3	transcript	ENST00000296498.3	protein_coding	8/12			chr4	TogoVar
PRSS22_chr16_2847730_2863170	2857353	GGGGGTCC others(16): Show GGGGGTCCCAGCGCCCAGTGAGGA	G G	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0049 a0001c0001t0003g0049	1	412	0.0024	-23	c.83- others(36): Show c.83-528_83-506delTCCTCACTGGGCGCTGGGACCCC	PRSS22	ENSG00000005001.10	transcript	ENST00000161006.8	protein_coding	1/5			chr16	TogoVar
PRSS38_chr1_227810675_227851470	227844664	CTCCCTAT others(16): Show CTCCCTATGTGTGGTCAGGGCTTT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01884.hp1 HG01891.hp2 others(3): Show HG01167.hp2 HG01884.hp1 HG01891.hp2 HG02895.hp2 HG03540.hp1 NA19043.hp1	a0005 a0006 a0005 a0006	a0005c0006 a0006c0008 a0005c0006 a0006c0008	a0005c0006t0001 a0006c0008t0001 a0006c0008t0003 a0005c0006t0001 a0006c0008t0001 a0006c0008t0003	a0005c0006t0001g0030 a0005c0006t0001g0077 a0006c0008t0001g0139 others(2): Show a0005c0006t0001g0030 a0005c0006t0001g0077 a0006c0008t0001g0139 a0006c0008t0003g0137 a0006c0008t0003g0140	6	450	0.0133	-23	c.584 others(38): Show c.584-787_584-765delGCTTTTCCCTATGTGTGGTCAGG	PRSS38	ENSG00000185888.6	transcript	ENST00000366757.4	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRSS38_chr1_227810675_227851470	227851254	TTTAGTGG others(16): Show TTTAGTGGCTTATTTATTCATTTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	450	0.0022	-23	c.50 others(34): Show c.5047_*5069delTTAGTGGCTTATTTATTCATTTA	PRSS38	ENSG00000185888.6	transcript	ENST00000366757.4	protein_coding		4785		chr1	TogoVar
PRSS48_chr4_151272161_151296862	151296489	AAATAAAT others(16): Show AAATAAATAAATAAATAAACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0012 a0002c0004t0001g0012	1	428	0.0023	-23	c.50 others(34): Show c.5037_*5059delAATAAATAAATAAATAAACACAC	PRSS48	ENSG00000189099.12	transcript	ENST00000455694.7	protein_coding		4628		chr4	TogoVar
PRTN3_chr19_835999_853175	852730	CGATCCCG others(16): Show CGATCCCGTGGGTTCCCGGTGGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01243.hp1 HG03041.hp2 others(5): Show HG01074.hp2 HG01243.hp1 HG03041.hp2 HG03098.hp1 HG04199.hp1 NA18985.hp1 NA19068.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0005 a0001c0001t0001 a0002c0002t0001 a0002c0002t0005	a0001c0001t0001g0264 a0001c0001t0001g0292 a0002c0002t0001g0020 others(5): Show a0001c0001t0001g0264 a0001c0001t0001g0292 a0002c0002t0001g0020 a0002c0002t0001g0146 a0002c0002t0001g0150 a0002c0002t0001g0174 a0002c0002t0001g0195 a0002c0002t0005g0289	8	415	0.0193	-23	c.47 others(34): Show c.4762_*4784delGATCCCGTGGGTTCCCGGTGGGG	PRTN3	ENSG00000196415.10	transcript	ENST00000234347.10	protein_coding		4556		chr19	TogoVar
PRXL2B_chr1_2581777_2596468	2592468	GCGCCCCC others(16): Show GCGCCCCCTCCCCTGCCGCGCTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	413	0.0024	-23	c.30 others(34): Show c.3042_*3064delCGCCCCCTCCCCTGCCGCGCTGA	PRXL2B	ENSG00000157870.17	transcript	ENST00000419916.8	protein_coding		1001		chr1	TogoVar
PRXL2B_chr1_2581777_2596468	2592585	ACCCCCTC others(16): Show ACCCCCTCCCCTGCCGCGCTGACG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG02280.hp2 HG02965.hp1 others(2): Show HG02083.hp2 HG02280.hp2 HG02965.hp1 HG06807.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0003t0005	a0001c0001t0001g0002 a0001c0001t0004g0002 a0001c0001t0005g0009 others(1): Show a0001c0001t0001g0002 a0001c0001t0004g0002 a0001c0001t0005g0009 a0001c0003t0005g0016	5	413	0.0121	-23	c.31 others(34): Show c.3159_*3181delCCCCCTCCCCTGCCGCGCTGACG	PRXL2B	ENSG00000157870.17	transcript	ENST00000419916.8	protein_coding		1118		chr1	TogoVar
PSD3_chr8_18522303_19018703	18667161	TATCTGGC others(16): Show TATCTGGCCCCACCCACATCCTGC	T T	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0039 a0002c0005t0039	a0002c0005t0039g0117 a0002c0005t0039g0117	1	228	0.0044	-23	c.217 others(44): Show c.2173-11499_2173-11477delGCAGGATGTGGGTGGGGCCAGAT	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	9/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18678995	CTCCTTCA others(16): Show CTCCTTCAACTTAGGAATAACAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(146): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02148.hp2 HG02257.hp1 HG02280.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18939.hp1 NA18939.hp2 NA18944.hp1 NA18944.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18970.hp2 NA18981.hp1 NA18981.hp2 NA18989.hp1 NA18989.hp2 NA18998.hp2 NA18999.hp1 NA19001.hp1 NA19001.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19030.hp1 NA19043.hp2 NA19056.hp1 NA19060.hp2 NA19066.hp1 NA19074.hp1 NA19074.hp2 NA19081.hp1 NA19091.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009	a0001c0001 a0001c0002 a0001c0013 others(20): Show a0001c0001 a0001c0002 a0001c0013 a0001c0014 a0001c0016 a0001c0017 a0001c0025 a0001c0027 a0002c0003 a0002c0005 a0002c0007 a0002c0011 a0002c0015 a0002c0033 a0003c0004 a0003c0008 a0004c0006 a0004c0009 a0004c0010 a0005c0012 a0007c0036 a0008c0026 a0009c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(93): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0029 a0001c0001t0047 a0001c0001t0049 a0001c0001t0053 a0001c0001t0060 a0001c0001t0061 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0069 a0001c0001t0073 a0001c0001t0074 a0001c0001t0078 a0001c0002t0001 a0001c0002t0008 a0001c0002t0009 a0001c0002t0010 a0001c0002t0017 a0001c0002t0018 a0001c0002t0019 a0001c0002t0032 a0001c0002t0038 a0001c0002t0048 a0001c0002t0081 a0001c0013t0001 a0001c0014t0013 a0001c0014t0020 a0001c0016t0001 a0001c0017t0005 a0001c0025t0023 a0001c0027t0037 a0002c0003t0001 a0002c0003t0004 a0002c0003t0007 a0002c0003t0009 a0002c0003t0010 a0002c0003t0011 a0002c0003t0013 a0002c0003t0034 a0002c0003t0040 a0002c0003t0044 a0002c0003t0084 a0002c0003t0085 a0002c0005t0001 a0002c0005t0016 a0002c0005t0039 a0002c0005t0075 a0002c0007t0002 a0002c0007t0030 a0002c0007t0031 a0002c0011t0036 a0002c0015t0001 a0002c0033t0016 a0003c0004t0001 a0003c0004t0003 a0003c0004t0004 a0003c0004t0008 a0003c0004t0011 a0003c0004t0013 a0003c0004t0014 a0003c0004t0035 a0003c0004t0041 a0003c0004t0045 a0003c0004t0051 a0003c0004t0077 a0003c0004t0080 a0003c0004t0082 a0003c0008t0003 a0003c0008t0007 a0003c0008t0011 a0003c0008t0024 a0004c0006t0001 a0004c0006t0004 a0004c0006t0008 a0004c0009t0003 a0004c0009t0009 a0004c0009t0012 a0004c0009t0076 a0004c0010t0012 a0005c0012t0033 a0007c0036t0001 a0008c0026t0028 a0009c0024t0062	a0001c0001t0001g0005 a0001c0001t0001g0029 a0001c0001t0001g0030 others(146): Show a0001c0001t0001g0005 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0038 a0001c0001t0001g0048 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0068 a0001c0001t0001g0076 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0120 a0001c0001t0001g0142 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0002g0149 a0001c0001t0002g0167 a0001c0001t0002g0200 a0001c0001t0003g0151 a0001c0001t0004g0222 a0001c0001t0007g0113 a0001c0001t0007g0114 a0001c0001t0012g0177 a0001c0001t0014g0209 a0001c0001t0015g0169 a0001c0001t0015g0174 a0001c0001t0017g0150 a0001c0001t0019g0186 a0001c0001t0021g0130 a0001c0001t0022g0193 a0001c0001t0029g0049 a0001c0001t0029g0098 a0001c0001t0047g0090 a0001c0001t0049g0154 a0001c0001t0053g0013 a0001c0001t0060g0175 a0001c0001t0061g0091 a0001c0001t0063g0092 a0001c0001t0064g0009 a0001c0001t0065g0017 a0001c0001t0066g0103 a0001c0001t0069g0031 a0001c0001t0073g0021 a0001c0001t0074g0006 a0001c0001t0078g0217 a0001c0002t0001g0012 a0001c0002t0001g0026 a0001c0002t0001g0032 a0001c0002t0001g0062 a0001c0002t0001g0070 a0001c0002t0001g0075 a0001c0002t0001g0077 a0001c0002t0001g0140 a0001c0002t0001g0143 a0001c0002t0001g0211 a0001c0002t0008g0036 a0001c0002t0008g0100 a0001c0002t0009g0088 a0001c0002t0010g0039 a0001c0002t0017g0181 a0001c0002t0018g0081 a0001c0002t0018g0082 a0001c0002t0019g0182 a0001c0002t0032g0210 a0001c0002t0038g0125 a0001c0002t0048g0025 a0001c0002t0081g0223 a0001c0013t0001g0007 a0001c0013t0001g0121 a0001c0014t0013g0180 a0001c0014t0020g0179 a0001c0016t0001g0069 a0001c0016t0001g0085 a0001c0017t0005g0037 a0001c0025t0023g0162 a0001c0027t0037g0101 a0002c0003t0001g0047 a0002c0003t0001g0052 a0002c0003t0001g0066 a0002c0003t0001g0074 a0002c0003t0001g0079 a0002c0003t0001g0089 a0002c0003t0001g0108 a0002c0003t0004g0219 a0002c0003t0004g0220 a0002c0003t0004g0226 a0002c0003t0007g0094 a0002c0003t0009g0018 a0002c0003t0009g0106 a0002c0003t0010g0064 a0002c0003t0011g0115 a0002c0003t0013g0141 a0002c0003t0034g0042 a0002c0003t0040g0080 a0002c0003t0044g0119 a0002c0003t0084g0228 a0002c0003t0085g0227 a0002c0005t0001g0033 a0002c0005t0001g0084 a0002c0005t0016g0051 a0002c0005t0016g0144 a0002c0005t0039g0117 a0002c0005t0075g0010 a0002c0007t0002g0131 a0002c0007t0030g0164 a0002c0007t0031g0001 a0002c0011t0036g0160 a0002c0015t0001g0014 a0002c0015t0001g0129 a0002c0033t0016g0053 a0003c0004t0001g0008 a0003c0004t0001g0022 a0003c0004t0001g0044 a0003c0004t0001g0067 a0003c0004t0001g0072 a0003c0004t0003g0093 a0003c0004t0004g0218 a0003c0004t0008g0099 a0003c0004t0011g0205 a0003c0004t0011g0206 a0003c0004t0013g0019 a0003c0004t0014g0139 a0003c0004t0035g0020 a0003c0004t0041g0123 a0003c0004t0045g0071 a0003c0004t0051g0023 a0003c0004t0077g0096 a0003c0004t0080g0221 a0003c0004t0082g0215 a0003c0008t0003g0015 a0003c0008t0007g0122 a0003c0008t0011g0024 a0003c0008t0024g0095 a0004c0006t0001g0063 a0004c0006t0001g0107 a0004c0006t0004g0224 a0004c0006t0008g0035 a0004c0009t0003g0126 a0004c0009t0009g0028 a0004c0009t0012g0153 a0004c0009t0076g0155 a0004c0010t0012g0118 a0005c0012t0033g0194 a0007c0036t0001g0124 a0008c0026t0028g0128 a0009c0024t0062g0185	149	228	0.6535	-23	c.217 others(44): Show c.2173-23333_2173-23311delTTTGTTATTCCTAAGTTGAAGGA	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	9/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18865259	TATATATA others(16): Show TATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0103 a0001c0001t0066g0103	1	228	0.0044	-23	c.163 others(42): Show c.1634+2392_1634+2414delTATATATATATATATATATATAT	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	4/15			chr8	TogoVar
PSEN1_chr14_73131507_73228691	73133220	AGGTACTT others(16): Show AGGTACTTGCCACCAAGGGGAGGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0366 a0003c0003t0003g0366	1	378	0.0027	-23	c.-34 others(34): Show c.-3498_-3476delGGTACTTGCCACCAAGGGGAGGT	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding		3286		chr14	TogoVar
PSEN1_chr14_73131507_73228691	73202437	TATATATA others(16): Show TATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0348 a0001c0001t0002g0348	1	378	0.0027	-23	c.869 others(40): Show c.869-3948_869-3926delATATATATATATATATATATATA	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	8/11			chr14	TogoVar
PSEN1_chr14_73131507_73228691	73202439	TATATATA others(16): Show TATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0354 a0001c0001t0002g0354	1	378	0.0027	-23	c.869 others(40): Show c.869-3946_869-3924delATATATATATATATATATATATA	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	8/11			chr14	TogoVar
PSEN1_chr14_73131507_73228691	73202442	ATATATAT others(16): Show ATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 NA19030.hp2 HG01074.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0027 a0001c0004t0020 a0001c0001t0027 a0001c0004t0020	a0001c0001t0027g0307 a0001c0004t0020g0312 a0001c0001t0027g0307 a0001c0004t0020g0312	2	378	0.0053	-23	c.869 others(40): Show c.869-3942_869-3920delATATATATATATATATATATTTT	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSEN1_chr14_73131507_73228691	73212088	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01934.hp1 NA18612.hp1 NA18990.hp1 HG01934.hp1 NA18612.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0077 a0001c0001t0001g0084 a0001c0001t0001g0086	3	378	0.0079	-23	c.112 others(40): Show c.1129+165_1129+187delTTTTTTTTTTTTTTTTTTTTTTT	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSG9_chr19_43248282_43274530	43269763	CACACACA others(16): Show CACACACACACACACACAGAAGAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp2 others(80): Show HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00609.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01074.hp1 HG01081.hp1 HG01109.hp1 HG01255.hp1 HG01255.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01496.hp1 HG01952.hp2 HG01975.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02572.hp2 HG02630.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02738.hp2 HG02818.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03239.hp2 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18949.hp2 NA18953.hp2 NA18956.hp1 NA18956.hp2 NA18963.hp1 NA18972.hp1 NA18972.hp2 NA18978.hp1 NA18983.hp1 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA19003.hp2 NA19011.hp2 NA19012.hp2 NA19056.hp2 NA19062.hp2 NA19077.hp2 NA19078.hp2 NA19090.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0005 a0006 a0008 a0012 a0013 a0017 a0021 a0025	a0001c0001 a0001c0012 a0001c0013 others(10): Show a0001c0001 a0001c0012 a0001c0013 a0002c0002 a0003c0003 a0005c0004 a0006c0007 a0008c0009 a0012c0027 a0013c0030 a0017c0023 a0021c0018 a0025c0025	a0001c0001t0001 a0001c0001t0004 a0001c0012t0001 others(11): Show a0001c0001t0001 a0001c0001t0004 a0001c0012t0001 a0001c0013t0001 a0002c0002t0011 a0003c0003t0001 a0005c0004t0001 a0006c0007t0001 a0008c0009t0001 a0012c0027t0001 a0013c0030t0001 a0017c0023t0001 a0021c0018t0001 a0025c0025t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(39): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0081 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0004g0057 a0001c0001t0004g0062 a0001c0012t0001g0030 a0001c0013t0001g0026 a0002c0002t0011g0101 a0003c0003t0001g0016 a0003c0003t0001g0079 a0005c0004t0001g0025 a0006c0007t0001g0031 a0006c0007t0001g0099 a0006c0007t0001g0100 a0008c0009t0001g0024 a0008c0009t0001g0078 a0012c0027t0001g0098 a0013c0030t0001g0097 a0017c0023t0001g0085 a0021c0018t0001g0080 a0025c0025t0001g0090	83	212	0.3915	-23	c.-35 others(32): Show c.-355_-333delCTCTTCTGTGTGTGTGTGTGTGT	PSG9	ENSG00000183668.18	transcript	ENST00000270077.8	protein_coding		234		chr19	TogoVar
PSKH2_chr8_86042109_86074668	86049665	GAGTGAGA others(16): Show GAGTGAGAAAGAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	420	0.0024	-23	c.853 others(38): Show c.853-921_853-899delTTCTTTCTTTCTTCTTTCTCACT	PSKH2	ENSG00000147613.8	transcript	ENST00000276616.3	protein_coding	2/2			chr8	TogoVar
PSKH2_chr8_86042109_86074668	86049722	GAAAGAAA others(16): Show GAAAGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01934.hp2 HG01978.hp1 others(3): Show HG01346.hp2 HG01934.hp2 HG01978.hp1 HG02027.hp2 HG02293.hp1 HG03098.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0012c0016 a0001c0001 a0012c0016	a0001c0001t0001 a0012c0016t0003 a0001c0001t0001 a0012c0016t0003	a0001c0001t0001g0015 a0001c0001t0001g0064 a0001c0001t0001g0075 others(1): Show a0001c0001t0001g0015 a0001c0001t0001g0064 a0001c0001t0001g0075 a0012c0016t0003g0258	6	420	0.0143	-23	c.853 others(38): Show c.853-978_853-956delTTTCTTTCTTTCTTTCTTTCTTT	PSKH2	ENSG00000147613.8	transcript	ENST00000276616.3	protein_coding	2/2			chr8	TogoVar
PSMA6_chr14_35287382_35322493	35316086	TAGAAAAT others(16): Show TAGAAAATACATGTTCAGGGCCAC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0224 a0001c0001t0002g0224	1	380	0.0026	-23	c.684 others(40): Show c.684-1161_684-1139delGAAAATACATGTTCAGGGCCACA	PSMA6	ENSG00000100902.11	transcript	ENST00000261479.9	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSMB2_chr1_35594541_35646526	35642214	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02145.hp1 HG02647.hp1 others(5): Show HG01109.hp1 HG02145.hp1 HG02647.hp1 HG02809.hp2 HG02976.hp2 HG03195.hp1 NA18522.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0017 a0001c0001t0024 others(3): Show a0001c0001t0005 a0001c0001t0017 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027	a0001c0001t0005g0047 a0001c0001t0017g0037 a0001c0001t0017g0039 others(5): Show a0001c0001t0005g0047 a0001c0001t0017g0037 a0001c0001t0017g0039 a0001c0001t0017g0083 a0001c0001t0024g0118 a0001c0001t0025g0085 a0001c0001t0026g0084 a0001c0001t0027g0038	8	300	0.0267	-23	c.-80 others(32): Show c.-805_-783delTTTTTTTTTTTTTTTTTTTTTTT	PSMB2	ENSG00000126067.12	transcript	ENST00000373237.4	protein_coding		689		chr1	TogoVar
PSMD1_chr2_231051867_231177827	231102873	GTTATATT others(16): Show GTTATATTTGTTATAGCTTATTTA	G G	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01515.hp2 others(3): Show HG01168.hp1 HG01169.hp1 HG01515.hp2 HG03130.hp2 HG04228.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0215 a0001c0001t0001g0281 a0001c0001t0003g0157 others(3): Show a0001c0001t0001g0215 a0001c0001t0001g0281 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0163	6	364	0.0165	-23	c.188 others(44): Show c.1883+15715_1883+15737delATTATATTTGTTATAGCTTATTT	PSMD1	ENSG00000173692.14	transcript	ENST00000308696.11	protein_coding	16/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
PSMD6_chr3_64005551_64028494	64011319	AAACATGT others(16): Show AAACATGTCAACAGCAATAGTATT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp2 HG02809.hp2 others(6): Show HG02055.hp1 HG02109.hp2 HG02809.hp2 HG02965.hp1 HG02976.hp2 HG03041.hp2 HG03491.hp1 HG03492.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0138 a0001c0001t0002g0011 a0001c0001t0002g0138	9	426	0.0211	-23	c.996 others(38): Show c.996-387_996-365delAATACTATTGCTGTTGACATGTT	PSMD6	ENSG00000163636.11	transcript	ENST00000295901.9	protein_coding	6/7			chr3	TogoVar
PSMD8_chr19_38369571_38388824	38387400	GCCCAAGT others(16): Show GCCCAAGTCCTTAGGTCGCACTCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	424	0.0024	-23	c.40 others(34): Show c.4011_*4033delCCCAAGTCCTTAGGTCGCACTCC	PSMD8	ENSG00000099341.13	transcript	ENST00000215071.9	protein_coding		3577		chr19	TogoVar
PSME4_chr2_53859069_53975993	53940896	AATATATA others(16): Show AATATATATAATACATATTTAAAT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01123.hp1 HG01358.hp2 others(1): Show HG00738.hp1 HG01123.hp1 HG01358.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 others(1): Show a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188	4	384	0.0104	-23	c.501 others(38): Show c.501-919_501-897delATTTAAATATGTATTATATATAT	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	3/46			chr2	TogoVar
PSMF1_chr20_1113602_1177246	1150176	TCTCAAAA others(16): Show TCTCAAAAAAAAAAAAAAAAGTGC	T T	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0280 a0002c0002t0002g0280	1	326	0.0031	-23	c.552 others(42): Show c.552-12953_552-12931delCTCAAAAAAAAAAAAAAAAGTGC	PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	4/6			chr20	TogoVar
PTBP3_chr9_112213435_112338619	112256273	ATATATAT others(16): Show ATATATATATATATATATATACAT	A A	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	342	0.0029	-23	c.517 others(40): Show c.517-3508_517-3486delATGTATATATATATATATATATA	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	5/13			chr9	TogoVar
PTCD1_chr7_99411739_99443798	99426152	CTCTCCCT others(16): Show CTCTCCCTCTCCCTCTCCCCACGG	C C	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	380	0.0026	-23	c.916 others(38): Show c.916-559_916-537delCCGTGGGGAGAGGGAGAGGGAGA	PTCD1	ENSG00000106246.18	transcript	ENST00000292478.9	protein_coding	5/7			chr7	TogoVar
PTCD1_chr7_99411739_99443798	99440651	CTGGCATA others(16): Show CTGGCATATATATATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02615.hp1 HG03516.hp1 HG02451.hp1 HG02615.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0021 a0001c0001t0008g0021	3	380	0.0079	-23	c.-20 others(34): Show c.-2009_-1987delTATATATATATATATATATGCCA	PTCD1	ENSG00000106246.18	transcript	ENST00000292478.9	protein_coding		1854		chr7	TogoVar
PTDSS1_chr8_96256902_96341995	96280454	AAAGCCTG others(16): Show AAAGCCTGCAGTGAGCTGAGATTG	A A	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	262	0.0038	-23	c.272 others(40): Show c.272-3610_272-3588delTGAAGCCTGCAGTGAGCTGAGAT	PTDSS1	ENSG00000156471.13	transcript	ENST00000517309.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTGES2_chr9_128115693_128132729	128118878	CAGGGATG others(16): Show CAGGGATGGAGGGTGCAGGGATGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp1 NA18956.hp1 NA18985.hp1 others(4): Show HG02293.hp1 NA18956.hp1 NA18985.hp1 NA18992.hp1 NA18995.hp2 NA19011.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0093 a0001c0001t0001g0011 a0001c0001t0001g0093	7	366	0.0191	-23	c.22 others(34): Show c.2244_*2266delCCATCCCTGCACCCTCCATCCCT	PTGES2	ENSG00000148334.16	transcript	ENST00000338961.11	protein_coding		1814		chr9	TogoVar
PTK2B_chr8_27320552_27464386	27350991	ATATATAT others(16): Show ATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01361.hp2 NA20805.hp2 HG01258.hp1 HG01361.hp2 NA20805.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0004 a0002c0003t0002g0207 a0002c0003t0002g0004 a0002c0003t0002g0207	3	328	0.0092	-23	c.-38 others(42): Show c.-38+25311_-38+25333delTATATATATATATATATATATAT	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding	1/30			chr8	TogoVar
PTK2B_chr8_27320552_27464386	27362808	TCTCCCAC others(16): Show TCTCCCACACGAAATCTAGAACTG	T T	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03704.hp1 HG03490.hp1 HG03704.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0109 a0002c0004t0002g0110 a0002c0004t0002g0109 a0002c0004t0002g0110	2	328	0.0061	-23	c.-37 others(42): Show c.-37-34710_-37-34688delCACGAAATCTAGAACTGCTCCCA	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTK2_chr8_140652900_141006282	140670481	AAACAACA others(16): Show AAACAACAACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02300.hp2 NA19063.hp2 HG00140.hp1 HG02300.hp2 NA19063.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0002 a0001c0003t0002 a0002c0002t0002 a0001c0001t0002 a0001c0003t0002 a0002c0002t0002	a0001c0001t0002g0066 a0001c0003t0002g0230 a0002c0002t0002g0201 a0001c0001t0002g0066 a0001c0003t0002g0230 a0002c0002t0002g0201	3	290	0.0103	-23	c.283 others(40): Show c.2833-769_2833-747delGTGTGTGTGTGTGTGTTGTTGTT	PTK2	ENSG00000169398.20	transcript	ENST00000696786.1	protein_coding	32/35			chr8	TogoVar
PTK2_chr8_140652900_141006282	140670483	ACAACAAC others(16): Show ACAACAACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	290	0.0035	-23	c.283 others(40): Show c.2833-771_2833-749delGTGTGTGTGTGTGTGTGTTGTTG	PTK2	ENSG00000169398.20	transcript	ENST00000696786.1	protein_coding	32/35			chr8	TogoVar
PTK2_chr8_140652900_141006282	140670485	AACAACAC others(16): Show AACAACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0083	1	290	0.0035	-23	c.283 others(40): Show c.2833-773_2833-751delGTGTGTGTGTGTGTGTGTGTTGT	PTK2	ENSG00000169398.20	transcript	ENST00000696786.1	protein_coding	32/35			chr8	TogoVar
PTK2_chr8_140652900_141006282	140820096	TTTTTTTT others(16): Show TTTTTTTTTTTTTTTTTTTTTTTA	T T	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA19066.hp2 HG02040.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0105 a0001c0001t0001g0091 a0001c0001t0001g0105	2	290	0.0069	-23	c.649 others(40): Show c.649-1099_649-1077delTAAAAAAAAAAAAAAAAAAAAAA	PTK2	ENSG00000169398.20	transcript	ENST00000696786.1	protein_coding	8/35			chr8	TogoVar
PTK6_chr20_63523001_63542376	63535771	CCCTCACC others(16): Show CCCTCACCTGGCCTCCCGCCCCCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0096	1	344	0.0029	-23	c.231 others(38): Show c.231-735_231-713delAGGGGGCGGGAGGCCAGGTGAGG	PTK6	ENSG00000101213.7	transcript	ENST00000542869.3	protein_coding	1/7			chr20	TogoVar
PTK6_chr20_63523001_63542376	63535841	CCCTCACC others(16): Show CCCTCACCTGGCCTCCCGCCCCCT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02129.hp2 HG01081.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0149 a0001c0001t0002g0098 a0001c0001t0001g0149 a0001c0001t0002g0098	2	344	0.0058	-23	c.231 others(38): Show c.231-805_231-783delAGGGGGCGGGAGGCCAGGTGAGG	PTK6	ENSG00000101213.7	transcript	ENST00000542869.3	protein_coding	1/7			chr20	TogoVar
PTK6_chr20_63523001_63542376	63535887	TCCTCACC others(16): Show TCCTCACCTGGCCTCCCGCCCCCC	T T	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	344	0.0029	-23	c.231 others(38): Show c.231-851_231-829delGGGGGGCGGGAGGCCAGGTGAGG	PTK6	ENSG00000101213.7	transcript	ENST00000542869.3	protein_coding	1/7			chr20	TogoVar
PTK6_chr20_63523001_63542376	63535933	TCCTCACC others(16): Show TCCTCACCTGGCCTCCCGCACCCC	T T	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0108 a0001c0001t0006g0108	1	344	0.0029	-23	c.231 others(38): Show c.231-897_231-875delGGGGTGCGGGAGGCCAGGTGAGG	PTK6	ENSG00000101213.7	transcript	ENST00000542869.3	protein_coding	1/7			chr20	TogoVar
PTK6_chr20_63523001_63542376	63536043	CCCCCTCC others(16): Show CCCCCTCCTCTCCTGGCCTCCCGT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp1 HG02257.hp1 others(27): Show HG01891.hp1 HG02109.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02895.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 NA18522.hp1 NA18950.hp2 NA18979.hp2 NA19043.hp1 NA19240.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0009 a0001c0001 a0001c0003 a0004c0009	a0001c0001t0002 a0001c0001t0015 a0001c0001t0020 others(5): Show a0001c0001t0002 a0001c0001t0015 a0001c0001t0020 a0001c0003t0004 a0001c0003t0011 a0001c0003t0024 a0001c0003t0035 a0004c0009t0004	a0001c0001t0002g0037 a0001c0001t0015g0059 a0001c0001t0020g0058 others(24): Show a0001c0001t0002g0037 a0001c0001t0015g0059 a0001c0001t0020g0058 a0001c0003t0004g0013 a0001c0003t0004g0014 a0001c0003t0004g0015 a0001c0003t0004g0061 a0001c0003t0004g0062 a0001c0003t0004g0063 a0001c0003t0004g0064 a0001c0003t0004g0065 a0001c0003t0004g0067 a0001c0003t0004g0068 a0001c0003t0004g0069 a0001c0003t0004g0070 a0001c0003t0004g0072 a0001c0003t0004g0073 a0001c0003t0004g0077 a0001c0003t0004g0081 a0001c0003t0004g0085 a0001c0003t0011g0071 a0001c0003t0011g0075 a0001c0003t0011g0078 a0001c0003t0011g0082 a0001c0003t0024g0074 a0001c0003t0035g0275 a0004c0009t0004g0066	30	344	0.0872	-23	c.231 others(39): Show c.231-1007_231-985delACGGGAGGCCAGGAGAGGAGGGG	PTK6	ENSG00000101213.7	transcript	ENST00000542869.3	protein_coding	1/7			chr20	TogoVar

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