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
PIK3C2G_chr12_18256518_18653416	18399194	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00621.hp2 HG01496.hp1 others(4): Show HG00140.hp1 HG00621.hp2 HG01496.hp1 HG03098.hp2 HG03669.hp1 NA18995.hp2 NA19030.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0009	a0001c0008 a0002c0014 a0003c0002 others(2): Show a0001c0008 a0002c0014 a0003c0002 a0003c0024 a0009c0046	a0001c0008t0001 a0002c0014t0001 a0003c0002t0001 others(2): Show a0001c0008t0001 a0002c0014t0001 a0003c0002t0001 a0003c0024t0001 a0009c0046t0001	a0001c0008t0001g0023 a0001c0008t0001g0141 a0001c0008t0001g0142 others(4): Show a0001c0008t0001g0023 a0001c0008t0001g0141 a0001c0008t0001g0142 a0002c0014t0001g0138 a0003c0002t0001g0125 a0003c0024t0001g0126 a0009c0046t0001g0042	7	176	0.0398	17	c.212 others(34): Show c.2127-449_2127-448insAAAAAAAAAAAAAAAAA	PIK3C2G	ENSG00000139144.11	transcript	ENST00000538779.6	protein_coding	15/32		INFO_REALIGN_3_PRIME	chr12	TogoVar
PIK3CA_chr3_179143357_179245093	179231630	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0219 a0001c0001t0003g0219	1	282	0.0036	17	c.293 others(36): Show c.2936+1266_2936+1282dupTTTTTTTTTTTTTTTTT	PIK3CA	ENSG00000121879.6	transcript	ENST00000263967.4	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
PIK3CB_chr3_138647698_138839928	138705155	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0021 a0001c0003t0001g0021	1	206	0.0049	17	c.153 others(34): Show c.1531-679_1531-663dupTTTTTTTTTTTTTTTTT	PIK3CB	ENSG00000051382.9	transcript	ENST00000674063.1	protein_coding	11/23			chr3	TogoVar
PIK3CB_chr3_138647698_138839928	138744392	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02922.hp1 HG00323.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0160 a0001c0001t0007g0013 a0001c0001t0001g0160 a0001c0001t0007g0013	2	206	0.0097	17	c.398 others(34): Show c.398-1628_398-1612dupTTTTTTTTTTTTTTTTT	PIK3CB	ENSG00000051382.9	transcript	ENST00000674063.1	protein_coding	4/23			chr3	TogoVar
PIK3CD_chr1_9646731_9734114	9702500	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01515.hp1 HG02602.hp2 others(1): Show HG00738.hp2 HG01515.hp1 HG02602.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0015 a0001c0002t0003 a0001c0001t0001 a0001c0001t0015 a0001c0002t0003	a0001c0001t0001g0007 a0001c0001t0001g0133 a0001c0001t0015g0075 others(1): Show a0001c0001t0001g0007 a0001c0001t0001g0133 a0001c0001t0015g0075 a0001c0002t0003g0157	4	318	0.0126	17	c.-32 others(34): Show c.-32-7903_-32-7887dupTTTTTTTTTTTTTTTTT	PIK3CD	ENSG00000171608.18	transcript	ENST00000377346.9	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr1	TogoVar
PIK3R1_chr5_68210756_68306821	68244512	A A	ACTGCCCC others(10): Show ACTGCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03471.hp1 HG02145.hp1 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0008 a0002c0003 a0001c0008 a0002c0003	a0001c0008t0180 a0002c0003t0091 a0001c0008t0180 a0002c0003t0091	a0001c0008t0180g0225 a0002c0003t0091g0236 a0001c0008t0180g0225 a0002c0003t0091g0236	2	308	0.0065	17	c.334 others(36): Show c.334+17504_334+17505insTGCCCCCCCCCCCCCCC	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(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01175.hp2 HG02040.hp1 others(7): Show HG01081.hp2 HG01175.hp2 HG02040.hp1 HG02109.hp2 HG02135.hp2 HG02257.hp2 HG02818.hp1 HG02965.hp1 NA19066.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0150 a0001c0001t0001g0166 a0001c0001t0001g0167 others(5): Show a0001c0001t0001g0150 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0185 a0001c0002t0001g0023 a0001c0002t0001g0182	10	334	0.0299	17	c.323 others(34): Show c.323-1324_323-1308dupTTTTTTTTTTTTTTTTT	PIK3R2	ENSG00000105647.19	transcript	ENST00000222254.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr19	TogoVar
PIK3R3_chr1_46035140_46137629	46045644	T T	TTTTTTTT others(10): Show TTTTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	318	0.0031	17	c.118 others(34): Show c.1187+273_1187+274insGAAAAAAAAAAAAAAAA	PIK3R3	ENSG00000117461.15	transcript	ENST00000262741.10	protein_coding	9/9			chr1	TogoVar
PIK3R3_chr1_46035140_46137629	46071712	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	318	0.0031	17	c.315 others(34): Show c.315-4622_315-4621insATATTTTTTTTTTTTTT	PIK3R3	ENSG00000117461.15	transcript	ENST00000262741.10	protein_coding	3/9			chr1	TogoVar
PIK3R6_chr17_8797722_8872674	8814215	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	354	0.0028	17	c.199 others(36): Show c.1995+4851_1995+4867dupAAAAAAAAAAAAAAAAA	PIK3R6	ENSG00000276231.5	transcript	ENST00000619866.5	protein_coding	18/19			chr17	TogoVar
PIMREG_chr17_6439455_6456469	6448282	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00673.hp2 HG00735.hp1 others(4): Show HG00323.hp2 HG00673.hp2 HG00735.hp1 HG01891.hp2 HG02922.hp2 NA19030.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 a0002c0004t0003	a0001c0001t0002g0108 a0001c0001t0003g0044 a0001c0001t0003g0079 others(4): Show a0001c0001t0002g0108 a0001c0001t0003g0044 a0001c0001t0003g0079 a0001c0001t0003g0109 a0001c0001t0003g0128 a0001c0001t0016g0116 a0002c0004t0003g0083	7	312	0.0224	17	c.590 others(32): Show c.590+528_590+544dupAAAAAAAAAAAAAAAAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
PIN1_chr19_9830318_9854689	9850860	G G	GGAGTCCT others(10): Show GGAGTCCTCCAGTTCTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02647.hp2 HG02818.hp1 others(2): Show HG02559.hp1 HG02647.hp2 HG02818.hp1 HG03041.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0026 a0001c0002t0001g0034 a0001c0002t0001g0026 a0001c0002t0001g0034	5	422	0.0119	17	c.16 others(28): Show c.1661_*1662insGAGTCCTCCAGTTCTGA	PIN1	ENSG00000127445.14	transcript	ENST00000247970.9	protein_coding		1172		chr19	TogoVar
PINK1_chr1_20628458_20656511	20651801	T T	TTTTTTTT others(10): Show TTTTTTTTTATTTATTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0003 a0002c0025t0003	a0002c0025t0003g0037 a0002c0025t0003g0037	1	458	0.0022	17	c.11 others(28): Show c.1110_*1111insTTTTTTTTATTTATTTA	PINK1	ENSG00000158828.8	transcript	ENST00000321556.5	protein_coding		291		chr1	TogoVar
PIP4K2A_chr10_22529854_22719578	22596205	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03195.hp1 HG02630.hp1 HG03195.hp1	a0002 a0003 a0002 a0003	a0002c0003 a0003c0014 a0002c0003 a0003c0014	a0002c0003t0052 a0003c0014t0016 a0002c0003t0052 a0003c0014t0016	a0002c0003t0052g0192 a0003c0014t0016g0190 a0002c0003t0052g0192 a0003c0014t0016g0190	2	206	0.0097	17	c.340 others(34): Show c.340-4441_340-4425dupTTTTTTTTTTTTTTTTT	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	3/9			chr10	TogoVar
PIP4K2A_chr10_22529854_22719578	22601130	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0023 a0002c0003t0023	a0002c0003t0023g0111 a0002c0003t0023g0111	1	206	0.0049	17	c.339 others(34): Show c.339+6780_339+6796dupTTTTTTTTTTTTTTTTT	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	3/9			chr10	TogoVar
PIP4K2C_chr12_57586192_57608418	57590087	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG02257.hp2 HG03516.hp1 others(1): Show HG01255.hp1 HG02257.hp2 HG03516.hp1 NA19062.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0008 a0002c0004t0001g0041 a0002c0004t0001g0118 others(1): Show a0001c0001t0001g0008 a0002c0004t0001g0041 a0002c0004t0001g0118 a0002c0004t0001g0127	4	386	0.0104	17	c.-12 others(28): Show c.-1203_-1202insTTTTTTTTTTTTTTTTT	PIP4K2C	ENSG00000166908.18	transcript	ENST00000354947.10	protein_coding		1104		chr12	TogoVar
PIP5K1A_chr1_151193552_151254531	151251260	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG01243.hp1 HG01358.hp2 others(24): Show HG00741.hp1 HG01243.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01981.hp1 HG02056.hp1 HG02148.hp2 HG02280.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02886.hp1 HG02922.hp1 HG02965.hp2 HG03130.hp1 HG03516.hp2 HG03942.hp2 NA18945.hp2 NA18960.hp2 NA18963.hp2 NA18967.hp1 NA18974.hp2 NA18979.hp2 NA18993.hp1 NA19000.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0001t0005 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0003t0001 a0001c0006t0001	a0001c0001t0001g0011 a0001c0001t0001g0205 a0001c0001t0001g0207 others(23): Show a0001c0001t0001g0011 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0224 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0278 a0001c0001t0001g0288 a0001c0001t0001g0310 a0001c0001t0005g0167 a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0003t0001g0179 a0001c0003t0001g0181 a0001c0003t0001g0183 a0001c0003t0001g0186 a0001c0003t0001g0190 a0001c0003t0001g0193 a0001c0006t0001g0235	27	334	0.0808	17	c.33 others(28): Show c.3395_*3396insAAAAAAAAAAAAAAAAA	PIP5K1A	ENSG00000143398.20	transcript	ENST00000368888.9	protein_coding		1730		chr1	TogoVar
PIP5K1B_chr9_68700240_69014176	68754175	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01346.hp1 HG01346.hp2 others(17): Show HG00597.hp2 HG01346.hp1 HG01346.hp2 HG01496.hp2 HG01891.hp2 HG02055.hp1 HG02083.hp2 HG02132.hp2 HG02647.hp1 HG02896.hp1 HG02896.hp2 HG03130.hp1 HG03540.hp2 NA18950.hp2 NA18954.hp2 NA18980.hp2 NA18984.hp2 NA18989.hp1 NA18994.hp2 NA19080.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0003 a0001c0005t0001 a0003c0006t0001 a0003c0006t0002	a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0013 others(17): Show a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0001g0033 a0001c0001t0001g0039 a0001c0001t0001g0077 a0001c0001t0001g0091 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0002g0137 a0001c0001t0002g0173 a0001c0001t0002g0208 a0001c0001t0002g0210 a0001c0001t0002g0218 a0001c0001t0003g0133 a0001c0002t0003g0136 a0001c0005t0001g0072 a0003c0006t0001g0017 a0003c0006t0002g0167	20	220	0.0909	17	c.-86 others(36): Show c.-86+11530_-86+11531insTTTTTTTTTTTTTTTTT	PIP5K1B	ENSG00000107242.20	transcript	ENST00000265382.8	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
PIP5K1B_chr9_68700240_69014176	68920359	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0161 a0001c0001t0002g0161	1	220	0.0046	17	c.111 others(34): Show c.1116+640_1116+656dupTTTTTTTTTTTTTTTTT	PIP5K1B	ENSG00000107242.20	transcript	ENST00000265382.8	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
PIP5K1B_chr9_68700240_69014176	68922460	C C	CAAAAAAA others(10): Show CAAAAAAAAAGAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01243.hp2 HG00597.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0137 a0001c0002t0001g0106 a0001c0001t0002g0137 a0001c0002t0001g0106	2	220	0.0091	17	c.111 others(34): Show c.1117-829_1117-828insAAAAAAAAAAAAAGAAA	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(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03041.hp2 HG02559.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0056 a0001c0002t0002g0160 a0001c0001t0001g0056 a0001c0002t0002g0160	2	220	0.0091	17	c.120 others(36): Show c.1201+2413_1201+2429dupTTTTTTTTTTTTTTTTT	PIP5K1B	ENSG00000107242.20	transcript	ENST00000265382.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
PIRT_chr17_10817470_10843087	10827465	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp1 NA18959.hp2 HG01257.hp1 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0198 a0001c0001t0003g0206 a0001c0001t0003g0198 a0001c0001t0003g0206	2	454	0.0044	17	c.-13 others(36): Show c.-138-1699_-138-1683dupAAAAAAAAAAAAAAAAA	PIRT	ENSG00000233670.7	transcript	ENST00000580256.3	protein_coding	1/1			chr17	TogoVar
PIR_chrX_15379799_15498333	15486298	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0008 a0001c0001t0005g0008	1	272	0.0037	17	c.96+ others(32): Show c.96+4863_96+4864insTTTTTTTTTTTTTTTTT	PIR	ENSG00000087842.11	transcript	ENST00000380420.10	protein_coding	2/9			chrX	TogoVar
PISD_chr22_31613491_31667215	31630402	T T	TCAGGGCC others(10): Show TCAGGGCCGGAGGCGCCC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01516.hp1 HG01517.hp2 others(10): Show HG00738.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp2 HG01993.hp1 HG02258.hp1 HG02683.hp2 HG02723.hp1 HG02818.hp2 HG03139.hp2 HG03688.hp1 HG03710.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0011 a0001c0001t0005 a0001c0001t0011	a0001c0001t0005g0073 a0001c0001t0005g0074 a0001c0001t0005g0106 others(9): Show a0001c0001t0005g0073 a0001c0001t0005g0074 a0001c0001t0005g0106 a0001c0001t0005g0107 a0001c0001t0005g0108 a0001c0001t0005g0109 a0001c0001t0005g0110 a0001c0001t0005g0111 a0001c0001t0005g0112 a0001c0001t0011g0008 a0001c0001t0011g0317 a0001c0001t0011g0318	13	328	0.0396	17	c.322 others(34): Show c.322-8518_322-8517insGGGCGCCTCCGGCCCTG	PISD	ENSG00000241878.12	transcript	ENST00000439502.7	protein_coding	3/7			chr22	TogoVar
PISD_chr22_31613491_31667215	31640880	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	328	0.0031	17	c.321 others(34): Show c.321+7204_321+7220dupAAAAAAAAAAAAAAAAA	PISD	ENSG00000241878.12	transcript	ENST00000439502.7	protein_coding	3/7			chr22	TogoVar
PITPNB_chr22_27846669_27924256	27885295	A A	AATGTGCT others(10): Show AATGTGCTGAAGATATGC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp2 HG00738.hp2 others(1): Show HG00639.hp2 HG00735.hp2 HG00738.hp2 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0280 others(1): Show a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0280 a0001c0001t0002g0323	4	366	0.0109	17	c.456 others(34): Show c.456+9243_456+9259dupGCATATCTTCAGCACAT	PITPNB	ENSG00000180957.19	transcript	ENST00000335272.10	protein_coding	7/11			chr22	TogoVar
PITPNC1_chr17_67372281_67702256	67403218	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02630.hp2 HG01071.hp1 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0058 a0001c0001t0013 a0001c0001t0058	a0001c0001t0013g0077 a0001c0001t0058g0073 a0001c0001t0013g0077 a0001c0001t0058g0073	2	218	0.0092	17	c.48+ others(34): Show c.48+25023_48+25039dupAAAAAAAAAAAAAAAAA	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(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02083.hp1 HG02886.hp1 others(2): Show HG00558.hp2 HG02083.hp1 HG02886.hp1 HG04115.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0015 others(2): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0015 a0001c0001t0021 a0001c0001t0061	a0001c0001t0001g0086 a0001c0001t0008g0104 a0001c0001t0015g0024 others(2): Show a0001c0001t0001g0086 a0001c0001t0008g0104 a0001c0001t0015g0024 a0001c0001t0021g0026 a0001c0001t0061g0002	5	218	0.0229	17	c.49- others(34): Show c.49-10129_49-10128insTTTTTTTTTTTTTTTTT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67599034	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	218	0.0046	17	c.366 others(36): Show c.366+20778_366+20779insATATATATATATATATT	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(10): Show ATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01891.hp1 HG04184.hp2 HG01261.hp2 HG01891.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0087 a0001c0001t0002g0139 a0001c0001t0007g0075 a0001c0001t0001g0087 a0001c0001t0002g0139 a0001c0001t0007g0075	3	218	0.0138	17	c.366 others(36): Show c.366+20778_366+20779insATATATATATATATTTT	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(10): Show ATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0056 a0001c0002t0018g0056	1	218	0.0046	17	c.366 others(36): Show c.366+20778_366+20779insATATATATATATTTTTT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67599035	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00735.hp2 NA20129.hp2 HG00544.hp2 HG00735.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0017 a0001c0001t0001 a0001c0001t0004 a0001c0001t0017	a0001c0001t0001g0183 a0001c0001t0004g0191 a0001c0001t0017g0060 a0001c0001t0001g0183 a0001c0001t0004g0191 a0001c0001t0017g0060	3	218	0.0138	17	c.366 others(36): Show c.366+20778_366+20779insATATATATATATATATA	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	5/8			chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67631643	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01517.hp1 HG00639.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0002 a0001c0001t0016	a0001c0001t0002g0207 a0001c0001t0016g0041 a0001c0001t0002g0207 a0001c0001t0016g0041	2	218	0.0092	17	c.367 others(32): Show c.367-500_367-499insTATATATATATATATAT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	5/8			chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67631645	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01192.hp2 HG00741.hp1 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0026 a0001c0001t0001 a0001c0001t0026	a0001c0001t0001g0210 a0001c0001t0026g0203 a0001c0001t0001g0210 a0001c0001t0026g0203	2	218	0.0092	17	c.367 others(32): Show c.367-498_367-497insTATATATATATATATAT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	5/8			chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67631649	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0054 a0001c0003t0054	a0001c0003t0054g0088 a0001c0003t0054g0088	1	218	0.0046	17	c.367 others(32): Show c.367-494_367-493insTATATATATATATATAT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	5/8			chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67631657	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0204 a0001c0001t0009g0204	1	218	0.0046	17	c.367 others(32): Show c.367-486_367-485insTATATATATATATATAT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	5/8			chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67636644	G G	GCGACTCC others(10): Show GCGACTCCCTCGTAACCC	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	218	0.0046	17	c.462 others(34): Show c.462+4408_462+4424dupGACTCCCTCGTAACCCC	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67639123	T T	TAAAAAAG others(10): Show TAAAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00408.hp2 others(112): Show HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00639.hp2 HG00673.hp1 HG00741.hp1 HG01071.hp1 HG01074.hp1 HG01109.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01261.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01993.hp1 HG02004.hp1 HG02056.hp1 HG02074.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03710.hp1 HG03831.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18948.hp1 NA18956.hp2 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18998.hp2 NA19005.hp1 NA19005.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19062.hp1 NA19062.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(53): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0038 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0051 a0001c0001t0052 a0001c0001t0056 a0001c0001t0058 a0001c0001t0059 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0065 a0001c0001t0068 a0001c0001t0069 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0077 a0001c0002t0018 a0001c0003t0054	a0001c0001t0001g0086 a0001c0001t0001g0100 a0001c0001t0001g0113 others(112): Show a0001c0001t0001g0086 a0001c0001t0001g0100 a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0187 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0002g0097 a0001c0001t0002g0102 a0001c0001t0002g0117 a0001c0001t0002g0120 a0001c0001t0003g0007 a0001c0001t0003g0014 a0001c0001t0003g0021 a0001c0001t0003g0030 a0001c0001t0003g0036 a0001c0001t0003g0043 a0001c0001t0004g0046 a0001c0001t0004g0148 a0001c0001t0004g0161 a0001c0001t0005g0110 a0001c0001t0005g0157 a0001c0001t0005g0169 a0001c0001t0005g0181 a0001c0001t0005g0182 a0001c0001t0005g0213 a0001c0001t0006g0119 a0001c0001t0006g0125 a0001c0001t0006g0137 a0001c0001t0007g0075 a0001c0001t0007g0103 a0001c0001t0007g0107 a0001c0001t0007g0127 a0001c0001t0007g0177 a0001c0001t0007g0188 a0001c0001t0008g0166 a0001c0001t0008g0168 a0001c0001t0008g0173 a0001c0001t0008g0179 a0001c0001t0008g0214 a0001c0001t0009g0080 a0001c0001t0010g0093 a0001c0001t0010g0114 a0001c0001t0010g0135 a0001c0001t0010g0167 a0001c0001t0010g0199 a0001c0001t0013g0077 a0001c0001t0013g0121 a0001c0001t0013g0197 a0001c0001t0013g0198 a0001c0001t0014g0013 a0001c0001t0015g0012 a0001c0001t0015g0015 a0001c0001t0017g0054 a0001c0001t0017g0060 a0001c0001t0018g0049 a0001c0001t0018g0059 a0001c0001t0019g0048 a0001c0001t0019g0085 a0001c0001t0019g0101 a0001c0001t0020g0005 a0001c0001t0021g0017 a0001c0001t0021g0026 a0001c0001t0021g0029 a0001c0001t0022g0052 a0001c0001t0022g0061 a0001c0001t0023g0115 a0001c0001t0023g0184 a0001c0001t0025g0192 a0001c0001t0026g0178 a0001c0001t0026g0203 a0001c0001t0028g0068 a0001c0001t0029g0055 a0001c0001t0030g0058 a0001c0001t0032g0050 a0001c0001t0033g0057 a0001c0001t0034g0072 a0001c0001t0035g0053 a0001c0001t0038g0216 a0001c0001t0041g0215 a0001c0001t0042g0074 a0001c0001t0043g0105 a0001c0001t0044g0094 a0001c0001t0046g0047 a0001c0001t0047g0112 a0001c0001t0048g0143 a0001c0001t0049g0170 a0001c0001t0051g0138 a0001c0001t0052g0147 a0001c0001t0056g0092 a0001c0001t0058g0073 a0001c0001t0059g0098 a0001c0001t0061g0002 a0001c0001t0062g0039 a0001c0001t0063g0037 a0001c0001t0065g0035 a0001c0001t0068g0045 a0001c0001t0069g0011 a0001c0001t0071g0069 a0001c0001t0072g0064 a0001c0001t0073g0067 a0001c0001t0074g0066 a0001c0001t0077g0071 a0001c0002t0018g0056 a0001c0003t0054g0088	115	218	0.5275	17	c.462 others(34): Show c.462+6888_462+6904dupAAAAGAAAAGAAAAGAA	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67688338	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02698.hp1 NA19057.hp2 HG02698.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0128 a0001c0001t0006g0149 a0001c0001t0001g0128 a0001c0001t0006g0149	2	218	0.0092	17	c.683 others(34): Show c.683-4221_683-4220insAAAAAAAAAAAAAAAAA	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNM2_chr12_122978480_123156090	123128264	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0141 a0001c0001t0005g0141	1	230	0.0044	17	c.-19 others(38): Show c.-199-17793_-199-17777dupTTTTTTTTTTTTTTTTT	PITPNM2	ENSG00000090975.14	transcript	ENST00000320201.10	protein_coding	1/25			chr12	TogoVar
PITPNM3_chr17_6446263_6561555	6448282	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG01891.hp1 HG02922.hp2 others(2): Show HG00673.hp2 HG01891.hp1 HG02922.hp2 NA19030.hp1 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0003 a0001c0007 others(1): Show a0001c0002 a0001c0003 a0001c0007 a0003c0008	a0001c0002t0003 a0001c0003t0040 a0001c0007t0003 others(1): Show a0001c0002t0003 a0001c0003t0040 a0001c0007t0003 a0003c0008t0097	a0001c0002t0003g0061 a0001c0002t0003g0211 a0001c0003t0040g0125 others(2): Show a0001c0002t0003g0061 a0001c0002t0003g0211 a0001c0003t0040g0125 a0001c0007t0003g0032 a0003c0008t0097g0172	5	218	0.0229	17	c.70 others(28): Show c.7039_*7055dupTTTTTTTTTTTTTTTTT	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding		2980		chr17	TogoVar
PITRM1_chr10_3132728_3177782	3171146	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA19070.hp2 HG00597.hp1 NA19070.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0304 a0001c0005t0002g0305 a0001c0005t0002g0304 a0001c0005t0002g0305	2	446	0.0045	17	c.57- others(30): Show c.57-941_57-940insTTTTTTTTTTTTTTTTT	PITRM1	ENSG00000107959.17	transcript	ENST00000224949.9	protein_coding	1/26			chr10	TogoVar
PIWIL3_chr22_24714034_24779720	24744177	T T	TGAATTAA others(10): Show TGAATTAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02148.hp1 HG03942.hp1 HG01261.hp2 HG02148.hp1 HG03942.hp1	a0001 a0023 a0001 a0023	a0001c0001 a0023c0026 a0001c0001 a0023c0026	a0001c0001t0001 a0023c0026t0002 a0001c0001t0001 a0023c0026t0002	a0001c0001t0001g0333 a0001c0001t0001g0341 a0023c0026t0002g0079 a0001c0001t0001g0333 a0001c0001t0001g0341 a0023c0026t0002g0079	3	386	0.0078	17	c.144 others(36): Show c.1449+4729_1449+4730insTTTTTTTTTTTTAATTC	PIWIL3	ENSG00000184571.14	transcript	ENST00000616349.5	protein_coding	12/20			chr22	TogoVar
PIWIL3_chr22_24714034_24779720	24757079	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18952.hp2 NA18962.hp1 others(3): Show NA18747.hp1 NA18952.hp2 NA18962.hp1 NA19009.hp1 NA19066.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0194 a0001c0001t0001g0198 others(2): Show a0001c0001t0001g0006 a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200	6	386	0.0155	17	c.356 others(32): Show c.356-391_356-375dupTTTTTTTTTTTTTTTTT	PIWIL3	ENSG00000184571.14	transcript	ENST00000616349.5	protein_coding	4/20			chr22	TogoVar
PIWIL3_chr22_24714034_24779720	24760780	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03516.hp2 NA19043.hp2 HG02896.hp2 HG03516.hp2 NA19043.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0010c0014 a0001c0001 a0010c0014	a0001c0001t0001 a0010c0014t0001 a0010c0014t0008 a0001c0001t0001 a0010c0014t0001 a0010c0014t0008	a0001c0001t0001g0353 a0010c0014t0001g0363 a0010c0014t0008g0364 a0001c0001t0001g0353 a0010c0014t0001g0363 a0010c0014t0008g0364	3	386	0.0078	17	c.103 others(32): Show c.103-808_103-792dupTTTTTTTTTTTTTTTTT	PIWIL3	ENSG00000184571.14	transcript	ENST00000616349.5	protein_coding	2/20			chr22	TogoVar
PJA2_chr5_109329722_109414974	109372905	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01106.hp2 NA18962.hp1 others(2): Show HG00280.hp2 HG01106.hp2 NA18962.hp1 NA19081.hp2 NA20905.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0002 a0002c0002t0001 a0003c0003t0002	a0002c0002t0001g0163 a0002c0002t0001g0317 a0002c0002t0001g0322 others(2): Show a0002c0002t0001g0163 a0002c0002t0001g0317 a0002c0002t0001g0322 a0003c0003t0002g0092 a0003c0003t0002g0114	5	346	0.0145	17	c.128 others(36): Show c.1284-4176_1284-4160dupTTTTTTTTTTTTTTTTT	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	4/9			chr5	TogoVar
PKD1L1_chr7_47769614_47953466	47880284	A A	ATATATTT others(10): Show ATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0009 a0009	a0009c0046 a0009c0046	a0009c0046t0002 a0009c0046t0002	a0009c0046t0002g0299 a0009c0046t0002g0299	1	306	0.0033	17	c.352 others(34): Show c.3520+443_3520+444insAAAAAAAAAAAAATATA	PKD1L1	ENSG00000158683.10	transcript	ENST00000289672.7	protein_coding	21/56			chr7	TogoVar
PKD1L1_chr7_47769614_47953466	47899955	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0212 a0002c0003t0001g0212	1	306	0.0033	17	c.206 others(36): Show c.2065-1762_2065-1761insTTTTTTTTTTTTTTTTT	PKD1L1	ENSG00000158683.10	transcript	ENST00000289672.7	protein_coding	13/56			chr7	TogoVar
PKD1L1_chr7_47769614_47953466	47949368	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0021 a0021	a0021c0031 a0021c0031	a0021c0031t0001 a0021c0031t0001	a0021c0031t0001g0012 a0021c0031t0001g0012	1	306	0.0033	17	c.-92 others(26): Show c.-929_-928insTTTTTTTTTTTTTTTTT	PKD1L1	ENSG00000158683.10	transcript	ENST00000289672.7	protein_coding		903		chr7	TogoVar
PKD1L3_chr16_71924538_72005402	71976264	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02523.hp2 HG02451.hp2 HG02523.hp2	a0002 a0039 a0002 a0039	a0002c0002 a0039c0054 a0002c0002 a0039c0054	a0002c0002t0001 a0039c0054t0001 a0002c0002t0001 a0039c0054t0001	a0002c0002t0001g0117 a0039c0054t0001g0067 a0002c0002t0001g0117 a0039c0054t0001g0067	2	308	0.0065	17	c.175 others(34): Show c.1759+971_1759+972insAAAAAAAAAAAAAAAAA	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	11/29			chr16	TogoVar

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