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
PRR35_chr16_555394_570529	555920	CCTCCCCT others(19): Show CCTCCCCTCCCTTCTCTGTGCAGGCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	424	0.0024	-26	c.-47 others(37): Show c.-4780_-4755delCTCCCCTCCCTTCTCTGTGCAGGCCT	PRR35	ENSG00000161992.6	transcript	ENST00000409413.4	protein_coding		4473		chr16	TogoVar
PRR36_chr19_7863719_7879390	7878132	ACATATAT others(19): Show ACATATATACATATATACGTGTATACG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00408.hp2 others(35): Show HG00099.hp1 HG00140.hp2 HG00408.hp2 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG01069.hp1 HG01099.hp2 HG01123.hp2 HG01192.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01928.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02148.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp2 HG02717.hp1 HG02735.hp1 HG03239.hp1 HG03669.hp1 HG04204.hp2 NA18747.hp1 NA18945.hp2 NA18962.hp2 NA18969.hp2 NA18970.hp2 NA18993.hp1 NA19063.hp2	a0002 a0003 a0013 others(1): Show a0002 a0003 a0013 a0039	a0002c0002 a0002c0019 a0003c0003 others(2): Show a0002c0002 a0002c0019 a0003c0003 a0013c0014 a0039c0048	a0002c0002t0001 a0002c0002t0002 a0002c0019t0002 others(3): Show a0002c0002t0001 a0002c0002t0002 a0002c0019t0002 a0003c0003t0001 a0013c0014t0002 a0039c0048t0001	a0002c0002t0001g0004 a0002c0002t0001g0011 a0002c0002t0002g0003 others(4): Show a0002c0002t0001g0004 a0002c0002t0001g0011 a0002c0002t0002g0003 a0002c0019t0002g0047 a0003c0003t0001g0002 a0013c0014t0002g0058 a0039c0048t0001g0046	38	386	0.0985	-26	c.-38 others(37): Show c.-3880_-3855delCGTATACACGTATATATGTATATATG	PRR36	ENSG00000183248.12	transcript	ENST00000618550.5	protein_coding		3743		chr19	TogoVar
PRR5L_chr11_36291288_36470204	36351511	TTATATAT others(19): Show TTATATATATTTATATATTTATATAAA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02965.hp1 HG03209.hp1 HG02145.hp2 HG02965.hp1 HG03209.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0004 a0005c0012 a0001c0001 a0002c0004 a0005c0012	a0001c0001t0001 a0002c0004t0002 a0005c0012t0002 a0001c0001t0001 a0002c0004t0002 a0005c0012t0002	a0001c0001t0001g0067 a0002c0004t0002g0053 a0005c0012t0002g0125 a0001c0001t0001g0067 a0002c0004t0002g0053 a0005c0012t0002g0125	3	272	0.0110	-26	c.-12 others(47): Show c.-125-49478_-125-49453delATTTATATATTTATATAAATATAT AT	PRR5L	ENSG00000135362.14	transcript	ENST00000530639.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
PRRG3_chrX_151690458_151710924	151703856	GGTTTTTT others(19): Show GGTTTTTTTTTTTTTTTTTTTTTTTTT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03453.hp2 HG04199.hp1 NA18988.hp1 others(3): Show HG03453.hp2 HG04199.hp1 NA18988.hp1 NA18992.hp1 NA19062.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0115 a0001c0001t0140 others(1): Show a0001c0001t0016 a0001c0001t0115 a0001c0001t0140 a0001c0001t0141	a0001c0001t0016g0001 a0001c0001t0016g0002 a0001c0001t0016g0055 others(3): Show a0001c0001t0016g0001 a0001c0001t0016g0002 a0001c0001t0016g0055 a0001c0001t0115g0015 a0001c0001t0140g0018 a0001c0001t0141g0001	6	336	0.0179	-26	c.28 others(37): Show c.2824_*2849delGTTTTTTTTTTTTTTTTTTTTTTTTT	PRRG3	ENSG00000130032.17	transcript	ENST00000674457.1	protein_coding	4/4	2824		chrX	TogoVar
PRRT4_chr7_128345325_128366690	128346634	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0274 a0001c0005t0005g0274	1	448	0.0022	-26	c.41 others(37): Show c.4196_*4221delTATATATAGAGAGAGAGAGAGAGAGA	PRRT4	ENSG00000224940.10	transcript	ENST00000446477.7	protein_coding		3690		chr7	TogoVar
PRRT4_chr7_128345325_128366690	128346636	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0217 a0002c0001t0002g0217	1	448	0.0022	-26	c.41 others(37): Show c.4194_*4219delTATATATATAGAGAGAGAGAGAGAGA	PRRT4	ENSG00000224940.10	transcript	ENST00000446477.7	protein_coding		3688		chr7	TogoVar
PRRT4_chr7_128345325_128366690	128346640	CTCTCTCT others(19): Show CTCTCTCTCTCTCTATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 NA19240.hp1 HG00609.hp2 NA19240.hp1	a0002 a0008 a0002 a0008	a0002c0001 a0008c0013 a0002c0001 a0008c0013	a0002c0001t0001 a0008c0013t0001 a0002c0001t0001 a0008c0013t0001	a0002c0001t0001g0133 a0008c0013t0001g0083 a0002c0001t0001g0133 a0008c0013t0001g0083	2	448	0.0045	-26	c.41 others(37): Show c.4190_*4215delTATATATATATATAGAGAGAGAGAGA	PRRT4	ENSG00000224940.10	transcript	ENST00000446477.7	protein_coding		3684		chr7	TogoVar
PRRT4_chr7_128345325_128366690	128346642	CTCTCTCT others(19): Show CTCTCTCTCTCTATATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG02717.hp2 HG02970.hp1 others(2): Show HG00544.hp2 HG02717.hp2 HG02970.hp1 NA18953.hp2 NA20805.hp1	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0001 a0003c0004 a0004c0006 a0002c0001 a0003c0004 a0004c0006	a0002c0001t0001 a0003c0004t0001 a0004c0006t0001 a0002c0001t0001 a0003c0004t0001 a0004c0006t0001	a0002c0001t0001g0003 a0002c0001t0001g0163 a0003c0004t0001g0119 others(1): Show a0002c0001t0001g0003 a0002c0001t0001g0163 a0003c0004t0001g0119 a0004c0006t0001g0024	5	448	0.0112	-26	c.41 others(37): Show c.4188_*4213delTATATATATATATATAGAGAGAGAGA	PRRT4	ENSG00000224940.10	transcript	ENST00000446477.7	protein_coding		3682		chr7	TogoVar
PRRT4_chr7_128345325_128366690	128346644	CTCTCTCT others(19): Show CTCTCTCTCTATATATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp1 NA19004.hp2 NA18943.hp1 NA19004.hp2	a0001 a0010 a0001 a0010	a0001c0003 a0010c0030 a0001c0003 a0010c0030	a0001c0003t0002 a0010c0030t0003 a0001c0003t0002 a0010c0030t0003	a0001c0003t0002g0030 a0010c0030t0003g0244 a0001c0003t0002g0030 a0010c0030t0003g0244	2	448	0.0045	-26	c.41 others(37): Show c.4186_*4211delTATATATATATATATATAGAGAGAGA	PRRT4	ENSG00000224940.10	transcript	ENST00000446477.7	protein_coding		3680		chr7	TogoVar
PRRT4_chr7_128345325_128366690	128346646	CTCTCTCT others(19): Show CTCTCTCTATATATATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0226 a0001c0002t0002g0226	1	448	0.0022	-26	c.41 others(37): Show c.4184_*4209delTATATATATATATATATATAGAGAGA	PRRT4	ENSG00000224940.10	transcript	ENST00000446477.7	protein_coding		3678		chr7	TogoVar
PRRT4_chr7_128345325_128366690	128346648	CTCTCTAT others(19): Show CTCTCTATATATATATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0122 a0001c0002t0004g0122	1	448	0.0022	-26	c.41 others(37): Show c.4182_*4207delTATATATATATATATATATATAGAGA	PRRT4	ENSG00000224940.10	transcript	ENST00000446477.7	protein_coding		3676		chr7	TogoVar
PRRX1_chr1_170659131_170744421	170689814	GTCTCTCT others(19): Show GTCTCTCTCTCTCTCTCTCTCTCTCCC	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02965.hp1 NA18522.hp2 others(1): Show HG02572.hp1 HG02965.hp1 NA18522.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0003 a0001c0001t0010	a0001c0001t0003g0126 a0001c0001t0010g0005 a0001c0001t0010g0027 a0001c0001t0003g0126 a0001c0001t0010g0005 a0001c0001t0010g0027	4	356	0.0112	-26	c.241 others(45): Show c.241+25380_241+25405delCCTCTCTCTCTCTCTCTCTCTCTCTC	PRRX1	ENSG00000116132.12	transcript	ENST00000239461.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRRX2_chr9_129660647_129727674	129684498	ACACACAC others(19): Show ACACACACACACACACACACACACACC	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01175.hp2 HG01516.hp2 others(1): Show HG01074.hp2 HG01175.hp2 HG01516.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 others(1): Show a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0002g0049	4	358	0.0112	-26	c.259 others(45): Show c.259+18382_259+18407delACACACACACACACACCCACACACAC	PRRX2	ENSG00000167157.11	transcript	ENST00000372469.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRSS22_chr16_2847730_2863170	2861915	TCAAGCAA others(19): Show TCAAGCAATTCTCCTGCCTCAGCCTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp1 others(24): Show HG00099.hp1 HG00140.hp2 HG00323.hp1 HG00639.hp1 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01074.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01433.hp1 HG01515.hp1 HG01516.hp1 HG01943.hp1 HG02300.hp1 HG02683.hp2 HG02738.hp2 HG02809.hp1 HG02886.hp2 HG03516.hp2 HG03704.hp2 HG03831.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0056 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0056 a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0003g0004 a0001c0001t0004g0007 a0001c0001t0004g0052 a0001c0001t0004g0079 a0001c0001t0004g0080 a0001c0001t0005g0055	27	412	0.0655	-26	c.-38 others(37): Show c.-3837_-3812delGGAGGCTGAGGCAGGAGAATTGCTTG	PRSS22	ENSG00000005001.10	transcript	ENST00000161006.8	protein_coding		3746		chr16	TogoVar
PRSS33_chr16_2778953_2792560	2791399	ATCTCTGC others(19): Show ATCTCTGCCTGTTCAGCGGGAGCTGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	386	0.0026	-26	c.-39 others(37): Show c.-3950_-3925delCCCAGCTCCCGCTGAACAGGCAGAGA	PRSS33	ENSG00000103355.14	transcript	ENST00000682474.1	protein_coding		3840		chr16	TogoVar
PRTG_chr15_55606544_55748152	55612697	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00438.hp2 others(35): Show HG00280.hp1 HG00408.hp2 HG00438.hp2 HG01257.hp1 HG01943.hp1 HG01981.hp1 HG02015.hp1 HG02015.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02300.hp2 HG03669.hp1 HG03669.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18948.hp1 NA18953.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18980.hp1 NA18981.hp1 NA18983.hp2 NA18994.hp2 NA19002.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp2 NA19054.hp1 NA19064.hp2 NA19066.hp2 NA19077.hp2 NA19082.hp2	a0001 a0002 a0014 a0001 a0002 a0014	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0014c0018	a0001c0001t0005 a0001c0001t0015 a0001c0001t0084 others(10): Show a0001c0001t0005 a0001c0001t0015 a0001c0001t0084 a0001c0001t0085 a0001c0001t0090 a0001c0003t0003 a0001c0003t0005 a0001c0003t0018 a0002c0002t0003 a0002c0002t0005 a0002c0002t0015 a0002c0002t0066 a0014c0018t0015	a0001c0001t0005g0141 a0001c0001t0005g0164 a0001c0001t0015g0140 others(35): Show a0001c0001t0005g0141 a0001c0001t0005g0164 a0001c0001t0015g0140 a0001c0001t0084g0192 a0001c0001t0085g0147 a0001c0001t0090g0139 a0001c0003t0003g0042 a0001c0003t0003g0069 a0001c0003t0003g0073 a0001c0003t0003g0080 a0001c0003t0003g0082 a0001c0003t0003g0089 a0001c0003t0005g0191 a0001c0003t0005g0225 a0001c0003t0018g0081 a0001c0003t0018g0090 a0002c0002t0003g0009 a0002c0002t0003g0043 a0002c0002t0003g0063 a0002c0002t0003g0066 a0002c0002t0003g0067 a0002c0002t0003g0068 a0002c0002t0003g0071 a0002c0002t0003g0074 a0002c0002t0003g0076 a0002c0002t0003g0077 a0002c0002t0003g0086 a0002c0002t0003g0087 a0002c0002t0003g0088 a0002c0002t0005g0108 a0002c0002t0005g0117 a0002c0002t0005g0118 a0002c0002t0005g0119 a0002c0002t0005g0120 a0002c0002t0005g0216 a0002c0002t0015g0227 a0002c0002t0066g0083 a0014c0018t0015g0189	38	284	0.1338	-26	c.72 others(37): Show c.7289_*7314delATATATATATATATATATATATATAT	PRTG	ENSG00000166450.13	transcript	ENST00000389286.9	protein_coding	20/20	7289		chr15	TogoVar
PRTG_chr15_55606544_55748152	55629367	ATATATAT others(19): Show ATATATATATGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0058 a0001c0001t0023g0058	1	284	0.0035	-26	c.262 others(43): Show c.2624-389_2624-364delCACACACACACACACACATATATATA	PRTG	ENSG00000166450.13	transcript	ENST00000389286.9	protein_coding	15/19			chr15	TogoVar
PRTG_chr15_55606544_55748152	55670902	AACACACA others(19): Show AACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02630.hp1 HG02723.hp2 others(2): Show HG02109.hp2 HG02630.hp1 HG02723.hp2 NA19030.hp2 NA19240.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0039 a0001c0007t0116 a0001c0007t0117 others(1): Show a0001c0007t0039 a0001c0007t0116 a0001c0007t0117 a0001c0007t0118	a0001c0007t0039g0230 a0001c0007t0039g0231 a0001c0007t0116g0109 others(2): Show a0001c0007t0039g0230 a0001c0007t0039g0231 a0001c0007t0116g0109 a0001c0007t0117g0110 a0001c0007t0118g0111	5	284	0.0176	-26	c.204 others(45): Show c.2041+1517_2041+1542delGTGTGTGTGTGTGTGTGTGTGTGTGT	PRTG	ENSG00000166450.13	transcript	ENST00000389286.9	protein_coding	11/19			chr15	TogoVar
PRXL2A_chr10_80403551_80442115	80411736	TTGTTCAC others(19): Show TTGTTCACTGAGGGCCTGAGGCAAGGA	T T	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0045 a0001c0001t0004g0045	1	300	0.0033	-26	c.-3+ others(41): Show c.-3+3094_-3+3119delTGTTCACTGAGGGCCTGAGGCAAGGA	PRXL2A	ENSG00000122378.14	transcript	ENST00000606162.6	protein_coding	1/5			chr10	TogoVar
PRXL2A_chr10_80403551_80442115	80429633	GCCCTGCC others(19): Show GCCCTGCCCCTAGCCTCTCCTGCCCTT	G G	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0060 a0001c0001t0008g0060	1	300	0.0033	-26	c.576 others(43): Show c.576+2163_576+2188delTCCCTGCCCCTAGCCTCTCCTGCCCT	PRXL2A	ENSG00000122378.14	transcript	ENST00000606162.6	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRX_chr19_40388768_40418378	40399879	CTTTCTTT others(19): Show CTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01884.hp1 HG01884.hp2 others(5): Show HG01361.hp2 HG01884.hp1 HG01884.hp2 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG03130.hp1 HG03491.hp2	a0002 a0006 a0007 others(1): Show a0002 a0006 a0007 a0009	a0002c0002 a0006c0006 a0007c0007 others(1): Show a0002c0002 a0006c0006 a0007c0007 a0009c0009	a0002c0002t0001 a0006c0006t0001 a0007c0007t0001 others(1): Show a0002c0002t0001 a0006c0006t0001 a0007c0007t0001 a0009c0009t0001	a0002c0002t0001g0062 a0006c0006t0001g0013 a0006c0006t0001g0051 others(4): Show a0002c0002t0001g0062 a0006c0006t0001g0013 a0006c0006t0001g0051 a0006c0006t0001g0135 a0007c0007t0001g0150 a0009c0009t0001g0053 a0009c0009t0001g0118	8	306	0.0261	-26	c.185 others(43): Show c.185-1089_185-1064delAAGAAAGAAAGAAAGAAAGAAAGAAA	PRX	ENSG00000105227.16	transcript	ENST00000324001.8	protein_coding	5/6			chr19	TogoVar
PSD3_chr8_18522303_19018703	18604727	AGGGCACT others(19): Show AGGGCACTGCTGCCCTGTGAAGCCTCG	A A	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	228	0.0044	-26	c.241 others(45): Show c.2411-4319_2411-4294delCGAGGCTTCACAGGGCAGCAGTGCCC	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	11/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18752504	ATATATAA others(19): Show ATATATAATATATGTAATATATATAAT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02630.hp2 HG02572.hp1 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0072 a0001c0001t0002 a0001c0001t0072	a0001c0001t0002g0163 a0001c0001t0072g0188 a0001c0001t0002g0163 a0001c0001t0072g0188	2	228	0.0088	-26	c.217 others(47): Show c.2172+12919_2172+12944delATTATATATATTACATATATTATA TA	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	9/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18865262	ATATATAT others(19): Show ATATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0014 a0004c0006t0014	a0004c0006t0014g0050 a0004c0006t0014g0050	1	228	0.0044	-26	c.163 others(45): Show c.1634+2386_1634+2411delAATATATATATATATATATATATATA	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	4/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18865264	ATATATAT others(19): Show ATATATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0079 a0004c0006t0079	a0004c0006t0079g0216 a0004c0006t0079g0216	1	228	0.0044	-26	c.163 others(45): Show c.1634+2384_1634+2409delAAAATATATATATATATATATATATA	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	4/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18865266	ATATATAT others(19): Show ATATATATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0033 a0005c0012t0033	a0005c0012t0033g0194 a0005c0012t0033g0194	1	228	0.0044	-26	c.163 others(45): Show c.1634+2382_1634+2407delAAAAAATATATATATATATATATATA	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	4/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18879051	AACACACA others(19): Show AACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0182 a0001c0002t0019g0182	1	228	0.0044	-26	c.131 others(43): Show c.131-6344_131-6319delGTGTGTGTGTGTGTGTGTGTGTGTGT	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	2/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18916297	GATATATA others(19): Show GATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03195.hp2 NA18522.hp2 HG02486.hp2 HG03195.hp2 NA18522.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0002 a0004c0010t0012 a0004c0010t0002 a0004c0010t0012	a0004c0010t0002g0134 a0004c0010t0002g0145 a0004c0010t0012g0118 a0004c0010t0002g0134 a0004c0010t0002g0145 a0004c0010t0012g0118	3	228	0.0132	-26	c.130 others(45): Show c.130+19711_130+19736delATATATATATATATATATATATATAT	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	2/15			chr8	TogoVar
PSEN1_chr14_73131507_73228691	73202418	CTATATAT others(19): Show CTATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03453.hp1 NA18962.hp2 others(1): Show HG03139.hp1 HG03453.hp1 NA18962.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0196 a0001c0001t0003g0203 a0001c0001t0003g0313 others(1): Show a0001c0001t0003g0196 a0001c0001t0003g0203 a0001c0001t0003g0313 a0001c0001t0004g0291	4	378	0.0106	-26	c.869 others(43): Show c.869-3948_869-3923delATATATATATATATATATATATATAT	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSEN1_chr14_73131507_73228691	73202438	ATATATAT others(19): Show ATATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02922.hp2 HG03540.hp1 others(13): Show HG02818.hp1 HG02922.hp2 HG03540.hp1 NA18747.hp1 NA18946.hp2 NA18953.hp1 NA18960.hp2 NA18969.hp1 NA18988.hp2 NA18991.hp1 NA19004.hp2 NA19007.hp2 NA19056.hp1 NA19060.hp1 NA19074.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0028 a0001c0001t0003 a0001c0001t0004 a0001c0001t0028	a0001c0001t0003g0002 a0001c0001t0003g0202 a0001c0001t0003g0205 others(12): Show a0001c0001t0003g0002 a0001c0001t0003g0202 a0001c0001t0003g0205 a0001c0001t0003g0207 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0213 a0001c0001t0003g0218 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0230 a0001c0001t0004g0292 a0001c0001t0004g0294 a0001c0001t0028g0293	16	378	0.0423	-26	c.869 others(43): Show c.869-3946_869-3921delATATATATATATATATATATATATTT	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSEN1_chr14_73131507_73228691	73202440	ATATATAT others(19): Show ATATATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA21309.hp2 HG02129.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0003 a0003c0003t0003 a0001c0001t0003 a0003c0003t0003	a0001c0001t0003g0127 a0003c0003t0003g0366 a0001c0001t0003g0127 a0003c0003t0003g0366	2	378	0.0053	-26	c.869 others(43): Show c.869-3944_869-3919delATATATATATATATATATATATTTTT	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSEN1_chr14_73131507_73228691	73212088	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03139.hp1 HG02109.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0003g0313 a0001c0001t0003g0314	2	378	0.0053	-26	c.112 others(43): Show c.1129+162_1129+187delTTTTTTTTTTTTTTTTTTTTTTTTTT	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSKH2_chr8_86042109_86074668	86049702	GAAAGAAA others(19): Show GAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00733.hp2 HG01496.hp2 others(7): Show HG00280.hp1 HG00733.hp2 HG01496.hp2 HG01975.hp1 HG02135.hp1 HG02300.hp1 NA18982.hp2 NA18988.hp2 NA19067.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0119 a0002c0002t0002g0013 a0002c0002t0002g0175 others(4): Show a0001c0001t0002g0119 a0002c0002t0002g0013 a0002c0002t0002g0175 a0002c0002t0002g0188 a0002c0002t0002g0193 a0002c0002t0002g0212 a0002c0002t0002g0219	10	420	0.0238	-26	c.853 others(41): Show c.853-961_853-936delTTCTTTCTTTCTTTCTTTCTTTCTTT	PSKH2	ENSG00000147613.8	transcript	ENST00000276616.3	protein_coding	2/2			chr8	TogoVar
PSMC1_chr14_90251553_90280429	90274787	TACACACA others(19): Show TACACACACACACACACACACACACAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00735.hp2 HG01099.hp1 HG01192.hp1 others(21): Show HG00735.hp2 HG01099.hp1 HG01192.hp1 HG01256.hp1 HG01361.hp2 HG01891.hp2 HG01952.hp2 HG02004.hp2 HG02280.hp1 HG02809.hp2 HG02886.hp2 HG03130.hp1 HG03139.hp2 HG03579.hp1 HG03831.hp2 HG04199.hp1 HG04199.hp2 NA18522.hp1 NA18612.hp1 NA19030.hp1 NA19055.hp1 NA19085.hp2 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0004 a0001c0001t0033 a0001c0001t0083 others(3): Show a0001c0001t0004 a0001c0001t0033 a0001c0001t0083 a0001c0002t0004 a0001c0002t0033 a0001c0003t0043	a0001c0001t0004g0001 a0001c0001t0004g0038 a0001c0001t0004g0122 others(9): Show a0001c0001t0004g0001 a0001c0001t0004g0038 a0001c0001t0004g0122 a0001c0001t0004g0129 a0001c0001t0004g0135 a0001c0001t0004g0154 a0001c0001t0033g0041 a0001c0001t0083g0116 a0001c0002t0004g0028 a0001c0002t0004g0078 a0001c0002t0033g0094 a0001c0003t0043g0001	24	390	0.0615	-26	c.24 others(37): Show c.2407_*2432delACACACACACACACACACACACACAC	PSMC1	ENSG00000100764.14	transcript	ENST00000261303.13	protein_coding	11/11	2407	INFO_REALIGN_3_PRIME	chr14	TogoVar
PSMD1_chr2_231051867_231177827	231165024	TTATATAT others(19): Show TTATATATATTTATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00673.hp1 HG01261.hp1 others(4): Show HG00408.hp1 HG00673.hp1 HG01261.hp1 HG02523.hp1 NA18612.hp2 NA18955.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0186 others(4): Show a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0227 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0326	7	364	0.0192	-26	c.248 others(43): Show c.2482-166_2482-141delTTATATATATATATATATATATATAT	PSMD1	ENSG00000173692.14	transcript	ENST00000308696.11	protein_coding	21/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
PSMD1_chr2_231051867_231177827	231165034	TTATATAT others(19): Show TTATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0112	1	364	0.0028	-26	c.248 others(43): Show c.2482-134_2482-109delATATATATATATATATATATATATAT	PSMD1	ENSG00000173692.14	transcript	ENST00000308696.11	protein_coding	21/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTBP1_chr19_792452_817312	815555	GGTGTGGA others(19): Show GGTGTGGATGTTCACCGACAGGCCCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0003 a0001c0014t0003	a0001c0014t0003g0139 a0001c0014t0003g0139	1	388	0.0026	-26	c.47 others(37): Show c.4730_*4755delGTGTGGATGTTCACCGACAGGCCCCA	PTBP1	ENSG00000011304.22	transcript	ENST00000356948.11	protein_coding		3244		chr19	TogoVar
PTBP3_chr9_112213435_112338619	112231994	GAGAAGAG others(19): Show GAGAAGAGAAGAGAAGAGAAGAGAAGA	G G	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0318 a0001c0001t0007g0318	1	342	0.0029	-26	c.102 others(42): Show c.1020+79_1020+104delTCTTCTCTTCTCTTCTCTTCTCTTCT	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	9/13			chr9	TogoVar
PTDSS1_chr8_96256902_96341995	96317878	AGTGTGTG others(19): Show AGTGTGTGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00609.hp2 others(92): Show HG00280.hp1 HG00280.hp2 HG00609.hp2 HG00733.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01255.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01433.hp1 HG01516.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01993.hp2 HG02004.hp1 HG02055.hp2 HG02273.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp2 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18943.hp1 NA18955.hp1 NA18960.hp1 NA18964.hp1 NA18966.hp1 NA18969.hp1 NA18979.hp1 NA19030.hp1 NA19043.hp1 NA19056.hp1 NA19240.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 a0001c0001 a0001c0004 a0001c0005	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(15): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0018 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0004t0004 a0001c0005t0002	a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0008 others(92): Show a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0029 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0074 a0001c0001t0002g0084 a0001c0001t0002g0102 a0001c0001t0002g0119 a0001c0001t0002g0124 a0001c0001t0002g0143 a0001c0001t0002g0149 a0001c0001t0002g0155 a0001c0001t0002g0158 a0001c0001t0002g0170 a0001c0001t0002g0182 a0001c0001t0002g0191 a0001c0001t0002g0196 a0001c0001t0002g0202 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0220 a0001c0001t0002g0225 a0001c0001t0002g0227 a0001c0001t0002g0234 a0001c0001t0002g0246 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0004g0020 a0001c0001t0004g0038 a0001c0001t0004g0207 a0001c0001t0005g0039 a0001c0001t0005g0040 a0001c0001t0005g0042 a0001c0001t0005g0071 a0001c0001t0005g0092 a0001c0001t0005g0101 a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0005g0107 a0001c0001t0005g0109 a0001c0001t0005g0113 a0001c0001t0005g0116 a0001c0001t0005g0163 a0001c0001t0005g0222 a0001c0001t0005g0244 a0001c0001t0006g0026 a0001c0001t0006g0032 a0001c0001t0006g0054 a0001c0001t0006g0115 a0001c0001t0006g0117 a0001c0001t0006g0133 a0001c0001t0006g0167 a0001c0001t0006g0176 a0001c0001t0006g0243 a0001c0001t0007g0005 a0001c0001t0007g0007 a0001c0001t0007g0014 a0001c0001t0007g0015 a0001c0001t0007g0017 a0001c0001t0007g0025 a0001c0001t0007g0033 a0001c0001t0012g0051 a0001c0001t0012g0062 a0001c0001t0012g0063 a0001c0001t0012g0146 a0001c0001t0013g0088 a0001c0001t0013g0142 a0001c0001t0013g0247 a0001c0001t0013g0251 a0001c0001t0015g0070 a0001c0001t0015g0100 a0001c0001t0018g0024 a0001c0001t0024g0156 a0001c0001t0025g0085 a0001c0001t0026g0228 a0001c0001t0027g0151 a0001c0001t0028g0184 a0001c0001t0029g0016 a0001c0001t0032g0130 a0001c0004t0004g0148 a0001c0005t0002g0011	95	262	0.3626	-26	c.107 others(45): Show c.1074-2351_1074-2326delGTGTGTGTGTGTGTGTGTGTGTGTGT	PTDSS1	ENSG00000156471.13	transcript	ENST00000517309.6	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTGER4_chr5_40674915_40698735	40697234	GAAAGAAA others(19): Show GAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG03942.hp2 HG01257.hp1 HG01258.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0003 a0001c0001t0001g0010	3	406	0.0074	-26	c.48 others(37): Show c.4857_*4882delAAAGAAAGAAAGAAAGAAAGAAAGAA	PTGER4	ENSG00000171522.6	transcript	ENST00000302472.4	protein_coding		3500		chr5	TogoVar
PTGES3L_chr17_42963103_42985080	42967408	TAAATATA others(19): Show TAAATATATATGTATTTATATATGTAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00558.hp2 others(14): Show HG00099.hp2 HG00423.hp2 HG00558.hp2 HG01346.hp1 HG02165.hp2 HG02735.hp1 HG03209.hp1 NA18612.hp2 NA18939.hp1 NA18960.hp2 NA18962.hp2 NA18970.hp1 NA18971.hp2 NA18975.hp1 NA18995.hp1 NA19004.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0023 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0126 a0001c0001t0001g0137 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0167 a0001c0001t0001g0178 a0001c0001t0005g0139	17	336	0.0506	-26	c.17 others(37): Show c.1714_*1739delCTACATATATAAATACATATATATTT	PTGES3L	ENSG00000267060.7	transcript	ENST00000591916.7	protein_coding		694		chr17	TogoVar
PTGFR_chr1_78485974_78545701	78518567	GACACACA others(19): Show GACACACACACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18980.hp1 NA18972.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0018 a0001c0001t0003g0018	2	386	0.0052	-26	c.799 others(45): Show c.799-17811_799-17786delCACACACACACACACACACACACACA	PTGFR	ENSG00000122420.10	transcript	ENST00000370757.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTGIR_chr19_46615468_46630089	46619517	GAAAGAAA others(19): Show GAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01106.hp1 HG01106.hp2 others(1): Show HG01081.hp1 HG01106.hp1 HG01106.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	4	420	0.0095	-26	c.17 others(37): Show c.1737_*1762delTTCTTTCTTTCTTTCTTTCTTTCTTT	PTGIR	ENSG00000160013.9	transcript	ENST00000291294.7	protein_coding		950		chr19	TogoVar
PTGIR_chr19_46615468_46630089	46619535	AAGAAAGA others(19): Show AAGAAAGAAAGAAAGAGAGAGAGAGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG01891.hp2 HG00733.hp1 HG01891.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0004 a0001c0003t0003g0004	2	420	0.0048	-26	c.17 others(37): Show c.1719_*1744delCTCTCTCTCTCTCTTTCTTTCTTTCT	PTGIR	ENSG00000160013.9	transcript	ENST00000291294.7	protein_coding		932		chr19	TogoVar
PTGR2_chr14_73846831_73890726	73869451	GGTGGGAG others(19): Show GGTGGGAGGATCACTTGAGCCCGGGAA	G G	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0130 a0001c0001t0008g0130	1	420	0.0024	-26	c.157 others(43): Show c.157-4550_157-4525delGGGAAGTGGGAGGATCACTTGAGCCC	PTGR2	ENSG00000140043.12	transcript	ENST00000555661.6	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
PTGR3_chr18_75190113_75214139	75211460	GGGAGCGC others(19): Show GGGAGCGCCCGGAGCGGCGCGCCGGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0011 a0001c0002t0006g0011	1	434	0.0023	-26	c.-24 others(37): Show c.-2428_-2403delTCCCGGCGCGCCGCTCCGGGCGCTCC	PTGR3	ENSG00000180011.7	transcript	ENST00000322342.4	protein_coding		2322		chr18	TogoVar
PTGS1_chr9_122366024_122400703	122376344	TTGTGTGT others(19): Show TTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01891.hp2 HG02109.hp2 others(13): Show HG01109.hp2 HG01891.hp2 HG02109.hp2 HG02559.hp2 HG02630.hp2 HG02723.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02976.hp1 HG03195.hp1 HG03516.hp2 HG03579.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0093 a0001c0001t0001g0212 a0001c0001t0001g0213 others(9): Show a0001c0001t0001g0093 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0002t0001g0208 a0001c0002t0002g0020 a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0065 a0001c0002t0002g0209 a0001c0002t0002g0210 a0001c0002t0002g0211	16	332	0.0482	-26	c.95- others(41): Show c.95-1535_95-1510delGTGTGTGTGTGTGTGTGTGTGTGTGT	PTGS1	ENSG00000095303.17	transcript	ENST00000362012.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PTK2B_chr8_27320552_27464386	27350990	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0003 a0001c0010t0003	a0001c0010t0003g0289 a0001c0010t0003g0289	1	328	0.0031	-26	c.-38 others(45): Show c.-38+25335_-38+25360delTATATATATATATATATATATATATA	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTK2B_chr8_27320552_27464386	27351016	TATATATA others(19): Show TATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0191 a0002c0004t0002g0191	1	328	0.0031	-26	c.-38 others(45): Show c.-38+25336_-38+25361delATATATATATATATATATATATATAC	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding	1/30			chr8	TogoVar
PTK2B_chr8_27320552_27464386	27378601	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02257.hp1 HG02970.hp2 others(4): Show HG02055.hp1 HG02257.hp1 HG02970.hp2 HG02976.hp1 HG03471.hp2 HG03540.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0183 others(4): Show a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0187	7	328	0.0213	-26	c.-37 others(45): Show c.-37-18923_-37-18898delGTGTGTGTGTGTGTGTGTGTGTGTGT	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr8	TogoVar

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