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 limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PIK3R1_chr5_68210756_68306821	68217653	T T	TGTGTGTG others(19): Show TGTGTGTGTGCGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0062 a0002c0003t0062	a0002c0003t0062g0193 a0002c0003t0062g0193	1	308	0.0033	26	c.-38 others(45): Show c.-387+1705_-387+1706insTGTGTGTGCGCGCGCGCGCGCGCGCG	PIK3R1	ENSG00000145675.16	transcript	ENST00000521381.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
PIK3R1_chr5_68210756_68306821	68262403	T T	TATATATA others(19): Show TATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0065 a0002c0004t0065	a0002c0004t0065g0120 a0002c0004t0065g0120	1	308	0.0033	26	c.335 others(45): Show c.335-10986_335-10985insTATATATATATATATATATACACACA	PIK3R1	ENSG00000145675.16	transcript	ENST00000521381.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
PIK3R1_chr5_68210756_68306821	68262705	G G	GCATGTAG others(19): Show GCATGTAGATACATGTATACATATATA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0132 a0001c0001t0132	a0001c0001t0132g0012 a0001c0001t0132g0012	1	308	0.0033	26	c.335 others(45): Show c.335-10676_335-10675insACATGTATACATATATACATGTAGAT	PIK3R1	ENSG00000145675.16	transcript	ENST00000521381.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
PIK3R1_chr5_68210756_68306821	68262982	G G	GATACATG others(19): Show GATACATGTAGATACATGTATACATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03453.hp1 HG02258.hp1 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0012 a0002c0003 a0001c0012 a0002c0003	a0001c0012t0164 a0002c0003t0094 a0001c0012t0164 a0002c0003t0094	a0001c0012t0164g0235 a0002c0003t0094g0263 a0001c0012t0164g0235 a0002c0003t0094g0263	2	308	0.0065	26	c.335 others(45): Show c.335-10388_335-10363dupTACATATATACATGTAGATACATGTA	PIK3R1	ENSG00000145675.16	transcript	ENST00000521381.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
PIK3R2_chr19_18148163_18175532	18159144	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0078 a0002c0003t0001g0078	1	334	0.0030	26	c.323 others(43): Show c.323-1308_323-1307insTTTTTTTTTTTTTTTTTTTTTTTTTT	PIK3R2	ENSG00000105647.19	transcript	ENST00000222254.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr19	TogoVar
PIK3R3_chr1_46035140_46137629	46067277	T T	TATATATA others(19): Show TATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18974.hp2 NA19000.hp1 others(2): Show NA18940.hp2 NA18974.hp2 NA19000.hp1 NA19007.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0019 a0001c0001t0005g0020 a0001c0001t0005g0021 others(2): Show a0001c0001t0005g0019 a0001c0001t0005g0020 a0001c0001t0005g0021 a0001c0001t0005g0023 a0001c0001t0005g0024	5	318	0.0157	26	c.315 others(41): Show c.315-187_315-186insTTATATATATATATATATATATATAT	PIK3R3	ENSG00000117461.15	transcript	ENST00000262741.10	protein_coding	3/9			chr1	TogoVar
PIK3R3_chr1_46035140_46137629	46071730	T T	TATATATA others(19): Show TATATATATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0042 a0001c0001t0003g0042	1	318	0.0031	26	c.315 others(43): Show c.315-4640_315-4639insCTCTCTCTCTCTCTCTATATATATAT	PIK3R3	ENSG00000117461.15	transcript	ENST00000262741.10	protein_coding	3/9			chr1	TogoVar
PIK3R3_chr1_46035140_46137629	46071730	T T	TATATATA others(19): Show TATATATATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0052 a0001c0001t0003g0052	1	318	0.0031	26	c.315 others(43): Show c.315-4640_315-4639insCTCTCTCTCTCTCTATATATATATAT	PIK3R3	ENSG00000117461.15	transcript	ENST00000262741.10	protein_coding	3/9			chr1	TogoVar
PIK3R3_chr1_46035140_46137629	46071759	A A	AGAGAGAG others(19): Show AGAGAGAGAGAGAGAGAGAGAGAGAGC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0048 a0001c0001t0003g0048	1	318	0.0031	26	c.315 others(43): Show c.315-4669_315-4668insGCTCTCTCTCTCTCTCTCTCTCTCTC	PIK3R3	ENSG00000117461.15	transcript	ENST00000262741.10	protein_coding	3/9			chr1	TogoVar
PIK3R3_chr1_46035140_46137629	46071759	A A	AGAGAGAG others(19): Show AGAGAGAGAGAGAGAGAGCGAGCGAGC	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0015 a0001c0001t0005g0015	1	318	0.0031	26	c.315 others(43): Show c.315-4669_315-4668insGCTCGCTCGCTCTCTCTCTCTCTCTC	PIK3R3	ENSG00000117461.15	transcript	ENST00000262741.10	protein_coding	3/9			chr1	TogoVar
PIMREG_chr17_6439455_6456469	6456395	G G	GCCTCACC others(19): Show GCCTCACCATGCCTCTTGTCATTTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0116 a0001c0001t0016g0116	1	312	0.0032	26	c.60 others(37): Show c.6048_*6049insCCTCACCATGCCTCTTGTCATTTTTC	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4927		chr17	TogoVar
PIP5K1A_chr1_151193552_151254531	151251260	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG01123.hp1 NA18950.hp2 HG00735.hp2 HG01123.hp1 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0250 a0001c0001t0001g0269 a0001c0001t0001g0246 a0001c0001t0001g0250 a0001c0001t0001g0269	3	334	0.0090	26	c.33 others(37): Show c.3395_*3396insAAAAAAAAAAAAAAAAAAAAAAAAAA	PIP5K1A	ENSG00000143398.20	transcript	ENST00000368888.9	protein_coding		1730		chr1	TogoVar
PIP5K1B_chr9_68700240_69014176	68920784	T T	TCTCTCTC others(19): Show TCTCTCTCTCACACATACACACACATA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0096	1	220	0.0046	26	c.111 others(45): Show c.1116+1056_1116+1057insTCTCTCTCACACATACACACACATAC	PIP5K1B	ENSG00000107242.20	transcript	ENST00000265382.8	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
PIP5K1B_chr9_68700240_69014176	68925795	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00673.hp2 HG01255.hp2 others(21): Show HG00597.hp1 HG00673.hp2 HG01255.hp2 HG02809.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp2 HG03139.hp1 HG03516.hp2 HG04199.hp2 HG06807.hp1 NA18942.hp1 NA18945.hp1 NA18954.hp1 NA18959.hp2 NA18962.hp1 NA18989.hp1 NA18994.hp1 NA18994.hp2 NA19007.hp1 NA19080.hp2 NA19081.hp2 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0004c0008t0001	a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0033 others(21): Show a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0088 a0001c0001t0001g0101 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0002g0128 a0001c0001t0002g0130 a0001c0001t0002g0162 a0001c0001t0002g0165 a0001c0001t0002g0175 a0001c0001t0002g0196 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0205 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0215 a0001c0001t0003g0142 a0004c0008t0001g0110	24	220	0.1091	26	c.120 others(45): Show c.1201+2429_1201+2430insTTTTTTTTTTTTTTTTTTTTTTTTTT	PIP5K1B	ENSG00000107242.20	transcript	ENST00000265382.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
PIR_chrX_15379799_15498333	15483174	T T	TATATATA others(19): Show TATATATATATATATATATATATATAG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01517.hp1 HG02572.hp1 others(6): Show HG01361.hp1 HG01517.hp1 HG02572.hp1 HG06807.hp2 NA18906.hp1 NA18939.hp1 NA19003.hp2 NA19064.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0026 a0001c0001t0001g0053 a0001c0001t0001g0072 others(6): Show a0001c0001t0001g0026 a0001c0001t0001g0053 a0001c0001t0001g0072 a0001c0001t0001g0108 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0054 a0001c0002t0001g0056 a0001c0002t0001g0221	9	272	0.0331	26	c.97- others(41): Show c.97-3354_97-3353insCTATATATATATATATATATATATAT	PIR	ENSG00000087842.11	transcript	ENST00000380420.10	protein_coding	2/9			chrX	TogoVar
PIR_chrX_15379799_15498333	15486298	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp2 HG01258.hp1 others(6): Show HG00738.hp1 HG00741.hp2 HG01258.hp1 HG01884.hp1 HG03688.hp1 NA18940.hp1 NA19000.hp1 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0084 a0001c0002t0001g0012 a0001c0002t0001g0083 others(6): Show a0001c0001t0001g0084 a0001c0002t0001g0012 a0001c0002t0001g0083 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0227	9	272	0.0331	26	c.96+ others(41): Show c.96+4863_96+4864insTTTTTTTTTTTTTTTTTTTTTTTTTT	PIR	ENSG00000087842.11	transcript	ENST00000380420.10	protein_coding	2/9			chrX	TogoVar
PITPNC1_chr17_67372281_67702256	67425193	G G	GCGCGCGC others(19): Show GCGCGCGCGCGCACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0138 a0001c0001t0051g0138	1	218	0.0046	26	c.48+ others(43): Show c.48+46992_48+46993insGCGCGCGCGCACACACACACACACAC	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67425193	G G	GCGCGCGC others(19): Show GCGCGCGCGCGCGCGCACACACACACA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0116 a0001c0001t0002g0116	1	218	0.0046	26	c.48+ others(43): Show c.48+46992_48+46993insGCGCGCGCGCGCGCACACACACACAC	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67494185	T T	TTCTTTCT others(19): Show TTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01496.hp2 HG02922.hp1 HG01361.hp2 HG01496.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0049 a0001c0001t0002 a0001c0001t0049	a0001c0001t0002g0102 a0001c0001t0002g0211 a0001c0001t0049g0170 a0001c0001t0002g0102 a0001c0001t0002g0211 a0001c0001t0049g0170	3	218	0.0138	26	c.49- others(43): Show c.49-38616_49-38615insCTTTCTTTCTTTCTTTCTTTCTTTCT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67495040	G G	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0149 a0001c0001t0006g0149	1	218	0.0046	26	c.49- others(43): Show c.49-37751_49-37750insTTTTTTTTTTTTTTTTTTTTTTTTTT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67522659	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02965.hp1 NA18906.hp1 others(3): Show HG02630.hp2 HG02965.hp1 NA18906.hp1 NA18906.hp2 NA18969.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 others(2): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0013 a0001c0001t0058	a0001c0001t0004g0186 a0001c0001t0007g0188 a0001c0001t0008g0166 others(3): Show a0001c0001t0004g0186 a0001c0001t0007g0188 a0001c0001t0008g0166 a0001c0001t0008g0173 a0001c0001t0013g0121 a0001c0001t0058g0073	6	218	0.0275	26	c.49- others(43): Show c.49-10129_49-10128insTTTTTTTTTTTTTTTTTTTTTTTTTT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67599001	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0189 a0001c0001t0002g0189	1	218	0.0046	26	c.366 others(45): Show c.366+20753_366+20778dupATATATATATATATATATATATATAT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67599034	A A	ATATATAT others(19): Show ATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	218	0.0046	26	c.366 others(45): Show c.366+20778_366+20779insATATATATATATATATATATATTTTT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67629238	C C	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00673.hp2 HG01361.hp2 others(9): Show HG00140.hp2 HG00673.hp2 HG01361.hp2 HG01928.hp1 HG01993.hp2 HG02056.hp2 HG02109.hp2 HG02148.hp2 HG02165.hp1 HG02809.hp1 HG03017.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0036 a0001c0001t0049 a0001c0001t0055 a0001c0001t0063 a0001c0001t0072	a0001c0001t0002g0003 a0001c0001t0003g0014 a0001c0001t0003g0022 others(9): Show a0001c0001t0002g0003 a0001c0001t0003g0014 a0001c0001t0003g0022 a0001c0001t0013g0198 a0001c0001t0014g0016 a0001c0001t0014g0034 a0001c0001t0015g0027 a0001c0001t0036g0151 a0001c0001t0049g0170 a0001c0001t0055g0096 a0001c0001t0063g0037 a0001c0001t0072g0064	12	218	0.0551	26	c.367 others(43): Show c.367-2902_367-2877dupTGTGTGTGTGTGTGTGTGTGTGTGTG	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67688338	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA19087.hp1 HG00544.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0039 a0001c0001t0004 a0001c0001t0039	a0001c0001t0004g0191 a0001c0001t0039g0175 a0001c0001t0004g0191 a0001c0001t0039g0175	2	218	0.0092	26	c.683 others(43): Show c.683-4221_683-4220insAAAAAAAAAAAAAAAAAAAAAAAAAA	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNM2_chr12_122978480_123156090	123029668	G G	GATGCATG others(19): Show GATGCATGTACACATGTGCACATATGT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02572.hp2 HG01099.hp1 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0081 a0001c0001t0001g0070 a0001c0001t0001g0081	2	230	0.0087	26	c.78+ others(41): Show c.78+4819_78+4844dupACATATGTGCACATGTGTACATGCAT	PITPNM2	ENSG00000090975.14	transcript	ENST00000320201.10	protein_coding	3/25			chr12	TogoVar
PITPNM3_chr17_6446263_6561555	6455018	C C	CGACTTTG others(19): Show CGACTTTGCCCAAACGCTTCAGCCCCG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0034 a0001c0023t0034	a0001c0023t0034g0200 a0001c0023t0034g0200	1	218	0.0046	26	c.29 others(35): Show c.294_*319dupCGGGGCTGAAGCGTTTGGGCAAAGTC	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	20/20	319		chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6491836	T T	TATATATA others(19): Show TATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0033 a0001c0003t0033	a0001c0003t0033g0030 a0001c0003t0033g0030	1	218	0.0046	26	c.275 others(43): Show c.275-7545_275-7544insTTATATATATATATATATATATATAT	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	4/19			chr17	TogoVar
PITRM1_chr10_3132728_3177782	3174583	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01943.hp1 HG02280.hp1 others(7): Show HG01256.hp1 HG01943.hp1 HG02280.hp1 HG02809.hp1 HG03654.hp1 NA18906.hp2 NA18986.hp2 NA18998.hp1 NA19063.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0028 a0001c0045	a0001c0001t0001 a0001c0002t0001 a0001c0005t0002 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0002 a0001c0028t0002 a0001c0045t0002	a0001c0001t0001g0077 a0001c0001t0001g0097 a0001c0002t0001g0034 others(6): Show a0001c0001t0001g0077 a0001c0001t0001g0097 a0001c0002t0001g0034 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0268 a0001c0005t0002g0041 a0001c0028t0002g0300 a0001c0045t0002g0308	10	446	0.0224	26	c.-18 others(37): Show c.-1812_-1811insAAAAAAAAAAAAAAAAAAAAAAAAAA	PITRM1	ENSG00000107959.17	transcript	ENST00000224949.9	protein_coding		1802		chr10	TogoVar
PITX3_chr10_102225189_102246512	102242928	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0023 a0001c0002t0001g0023	1	410	0.0024	26	c.-16 others(37): Show c.-1609_-1608insTTTTTTTTTTTTTTTTTTTTTTTTTT	PITX3	ENSG00000107859.11	transcript	ENST00000370002.8	protein_coding		1417		chr10	TogoVar
PIWIL2_chr8_22270316_22362568	22351436	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA19009.hp2 NA18942.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0027 a0001c0001t0003 a0001c0001t0027	a0001c0001t0003g0256 a0001c0001t0027g0005 a0001c0001t0003g0256 a0001c0001t0027g0005	2	296	0.0068	26	c.240 others(45): Show c.2404-1520_2404-1519insTATATATATATATATATATATATATA	PIWIL2	ENSG00000197181.12	transcript	ENST00000356766.11	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr8	TogoVar
PIWIL3_chr22_24714034_24779720	24757669	C C	CACATATA others(19): Show CACATATATATAAAATATGTATATATT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0007 a0012c0017t0007	a0012c0017t0007g0185 a0012c0017t0007g0185	1	386	0.0026	26	c.355 others(41): Show c.355+238_355+239insAATATATACATATTTTATATATATGT	PIWIL3	ENSG00000184571.14	transcript	ENST00000616349.5	protein_coding	4/20			chr22	TogoVar
PIWIL3_chr22_24714034_24779720	24760780	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA18943.hp1 HG02055.hp2 NA18943.hp1	a0001 a0006 a0001 a0006	a0001c0006 a0006c0009 a0001c0006 a0006c0009	a0001c0006t0010 a0006c0009t0001 a0001c0006t0010 a0006c0009t0001	a0001c0006t0010g0369 a0006c0009t0001g0312 a0001c0006t0010g0369 a0006c0009t0001g0312	2	386	0.0052	26	c.103 others(41): Show c.103-792_103-791insTTTTTTTTTTTTTTTTTTTTTTTTTT	PIWIL3	ENSG00000184571.14	transcript	ENST00000616349.5	protein_coding	2/20			chr22	TogoVar
PIWIL3_chr22_24714034_24779720	24764625	C C	CGTGTGTG others(19): Show CGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02083.hp2 HG06807.hp2 HG01109.hp1 HG02083.hp2 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0239 a0001c0001t0001g0351 a0002c0002t0001g0327 a0001c0001t0001g0239 a0001c0001t0001g0351 a0002c0002t0001g0327	3	386	0.0078	26	c.-22 others(43): Show c.-22-2130_-22-2105dupACACACACACACACACACACACACAC	PIWIL3	ENSG00000184571.14	transcript	ENST00000616349.5	protein_coding	1/20			chr22	TogoVar
PJA2_chr5_109329722_109414974	109340617	T T	TCCCTCTC others(19): Show TCCCTCTCCCTCTCCCCCTCCCCCTCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02723.hp2 HG03098.hp2 others(1): Show HG01884.hp1 HG02723.hp2 HG03098.hp2 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0256 a0001c0001t0001g0283 a0001c0001t0001g0335 others(1): Show a0001c0001t0001g0256 a0001c0001t0001g0283 a0001c0001t0001g0335 a0001c0007t0001g0232	4	346	0.0116	26	c.200 others(45): Show c.2002-3262_2002-3261insGGAGGGGGAGGGGGAGAGGGAGAGGG	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	9/9			chr5	TogoVar
PJA2_chr5_109329722_109414974	109340617	T T	TCCCTCTC others(19): Show TCCCTCTCCCTCTCCCTCTCCCCCTCC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02886.hp1 HG03195.hp2 others(3): Show HG02572.hp2 HG02886.hp1 HG03195.hp2 HG04228.hp2 NA18962.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0216 a0001c0001t0001g0231 others(3): Show a0001c0001t0001g0198 a0001c0001t0001g0216 a0001c0001t0001g0231 a0001c0001t0001g0259 a0001c0001t0001g0289 a0001c0001t0001g0328	6	346	0.0173	26	c.200 others(45): Show c.2002-3262_2002-3261insGGAGGGGGAGAGGGAGAGGGAGAGGG	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	9/9			chr5	TogoVar
PJA2_chr5_109329722_109414974	109340619	C C	CGGGTCCC others(19): Show CGGGTCCCTCTCCCTCTCCCTCTCCCT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0094 a0003c0003t0002g0095 a0003c0003t0002g0094 a0003c0003t0002g0095	2	346	0.0058	26	c.200 others(45): Show c.2002-3264_2002-3263insAGGGAGAGGGAGAGGGAGAGGGACCC	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	9/9			chr5	TogoVar
PJA2_chr5_109329722_109414974	109353499	A A	ATATAGAT others(19): Show ATATAGATATCTATATATTAGATACCT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	346	0.0029	26	c.176 others(45): Show c.1764+2415_1764+2416insAGGTATCTAATATATAGATATCTATA	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	7/9			chr5	TogoVar
PJA2_chr5_109329722_109414974	109372905	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18982.hp1 NA18979.hp2 NA18982.hp1	a0002 a0002	a0002c0002 a0002c0008 a0002c0002 a0002c0008	a0002c0002t0001 a0002c0008t0001 a0002c0002t0001 a0002c0008t0001	a0002c0002t0001g0292 a0002c0008t0001g0148 a0002c0002t0001g0292 a0002c0008t0001g0148	2	346	0.0058	26	c.128 others(45): Show c.1284-4160_1284-4159insTTTTTTTTTTTTTTTTTTTTTTTTTT	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	4/9			chr5	TogoVar
PKD1L3_chr16_71924538_72005402	71952596	A A	AGGCCAAG others(19): Show AGGCCAAGGTGGGAGGATGGCGGGAAG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0014 a0014	a0014c0086 a0014c0086	a0014c0086t0001 a0014c0086t0001	a0014c0086t0001g0291 a0014c0086t0001g0291	1	308	0.0033	26	c.300 others(43): Show c.3009+297_3009+298insCTTCCCGCCATCCTCCCACCTTGGCC	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	18/29			chr16	TogoVar
PKD1_chr16_2083708_2140898	2104931	G G	GAGGAGGG others(19): Show GAGGAGGGGAAGGGCTAGGGGAGGGGA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0038 a0038	a0038c0092 a0038c0092	a0038c0092t0008 a0038c0092t0008	a0038c0092t0008g0096 a0038c0092t0008g0096	1	216	0.0046	26	c.801 others(43): Show c.8017-290_8017-289insTCCCCTCCCCTAGCCCTTCCCCTCCT	PKD1	ENSG00000008710.20	transcript	ENST00000262304.9	protein_coding	21/45			chr16	TogoVar
PKD1_chr16_2083708_2140898	2104935	A A	AGGGGAAG others(19): Show AGGGGAAGGGCTAGGGGAGGGGAGGAG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0058 a0058	a0058c0055 a0058c0055	a0058c0055t0002 a0058c0055t0002	a0058c0055t0002g0191 a0058c0055t0002g0191	1	216	0.0046	26	c.801 others(43): Show c.8017-294_8017-293insCTCCTCCCCTCCCCTAGCCCTTCCCC	PKD1	ENSG00000008710.20	transcript	ENST00000262304.9	protein_coding	21/45			chr16	TogoVar
PKD1_chr16_2083708_2140898	2128064	C C	CAGGGAGG others(19): Show CAGGGAGGGAGAGGTGGGAGGGGCTGG	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0024 a0024	a0024c0105 a0024c0105	a0024c0105t0021 a0024c0105t0021	a0024c0105t0021g0180 a0024c0105t0021g0180	1	216	0.0046	26	c.215 others(43): Show c.215+7385_215+7410dupCCAGCCCCTCCCACCTCTCCCTCCCT	PKD1	ENSG00000008710.20	transcript	ENST00000262304.9	protein_coding	1/45			chr16	TogoVar
PKD2L1_chr10_100283149_100335228	100302700	A A	AAAAAAAA others(19): Show AAAAAAAATTGTTCCAGGTTAAATGAG	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	306	0.0033	26	c.350 others(43): Show c.350-3008_350-2983dupCTCATTTAACCTGGAACAATTTTTTT	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PKD2L1_chr10_100283149_100335228	100315123	A A	AGGGCAGG others(19): Show AGGGCAGGGCAGGGCAGGGCAGGGCAG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0019 a0019	a0019c0028 a0019c0028	a0019c0028t0001 a0019c0028t0001	a0019c0028t0001g0290 a0019c0028t0001g0290	1	306	0.0033	26	c.349 others(45): Show c.349+14087_349+14088insCTGCCCTGCCCTGCCCTGCCCTGCCC	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PKD2_chr4_88002635_88082777	88060441	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0056 a0002c0003t0003g0056	1	342	0.0029	26	c.202 others(45): Show c.2020-1449_2020-1448insATATATATATATATATATATATATAT	PKD2	ENSG00000118762.8	transcript	ENST00000237596.7	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr4	TogoVar
PKHD1L1_chr8_109357461_109542207	109410726	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02559.hp2 others(1): Show HG01884.hp2 HG01891.hp1 HG02559.hp2 HG02622.hp2	a0005 a0012 a0005 a0012	a0005c0005 a0012c0009 a0005c0005 a0012c0009	a0005c0005t0005 a0012c0009t0004 a0005c0005t0005 a0012c0009t0004	a0005c0005t0005g0279 a0012c0009t0004g0146 a0012c0009t0004g0147 others(1): Show a0005c0005t0005g0279 a0012c0009t0004g0146 a0012c0009t0004g0147 a0012c0009t0004g0152	4	282	0.0142	26	c.208 others(43): Show c.2085+769_2085+770insTTTTTTTTTTTTTTTTTTTTTTTTTT	PKHD1L1	ENSG00000205038.12	transcript	ENST00000378402.10	protein_coding	19/77		INFO_REALIGN_3_PRIME	chr8	TogoVar
PKHD1_chr6_51610299_52092613	51699920	A A	AGTGTGTA others(19): Show AGTGTGTATGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG04184.hp1 NA19240.hp1 HG02040.hp2 HG04184.hp1 NA19240.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0001c0032 a0006c0011 a0001c0002 a0001c0032 a0006c0011	a0001c0002t0001 a0001c0032t0001 a0006c0011t0005 a0001c0002t0001 a0001c0032t0001 a0006c0011t0005	a0001c0002t0001g0113 a0001c0032t0001g0075 a0006c0011t0005g0134 a0001c0002t0001g0113 a0001c0032t0001g0075 a0006c0011t0005g0134	3	134	0.0224	26	c.101 others(49): Show c.10157-39952_10157-39951insACACACACACACACACACATAC ACAC	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	60/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51758014	A A	AAGAGAGA others(19): Show AAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	134	0.0075	26	c.864 others(45): Show c.8643-3102_8643-3077dupCTCTCTCTCTCTCTCTCTCTCTCTCT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	55/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51801639	T T	TTGTGTGT others(19): Show TTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01081.hp2 HG01261.hp2 others(6): Show HG00738.hp2 HG01081.hp2 HG01261.hp2 HG01952.hp1 HG02698.hp1 HG03239.hp1 HG03669.hp2 HG04184.hp1 NA20129.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0016 a0019 a0023	a0001c0002 a0001c0032 a0001c0083 others(6): Show a0001c0002 a0001c0032 a0001c0083 a0002c0004 a0003c0007 a0004c0064 a0016c0090 a0019c0049 a0023c0044	a0001c0002t0001 a0001c0032t0001 a0001c0083t0001 others(6): Show a0001c0002t0001 a0001c0032t0001 a0001c0083t0001 a0002c0004t0003 a0003c0007t0001 a0004c0064t0003 a0016c0090t0001 a0019c0049t0001 a0023c0044t0001	a0001c0002t0001g0117 a0001c0032t0001g0075 a0001c0083t0001g0125 others(6): Show a0001c0002t0001g0117 a0001c0032t0001g0075 a0001c0083t0001g0125 a0002c0004t0003g0126 a0003c0007t0001g0049 a0004c0064t0003g0053 a0016c0090t0001g0120 a0019c0049t0001g0035 a0023c0044t0001g0044	9	134	0.0672	26	c.830 others(47): Show c.8303-10267_8303-10266insCACACACACACACACACACACACA CA	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	52/66			chr6	TogoVar

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