JoGo: Joint Open Genome and Omics Platform

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
PIK3R3_chr1_46035140_46137629	46071730	T T	TATATATA others(23): Show TATATATATAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0024 a0001c0003t0024	a0001c0003t0024g0201 a0001c0003t0024g0201	1	318	0.0031	30	c.315 others(47): Show c.315-4640_315-4639insCTCTCTCTCTCTCTCTCTCTCTATATAT AT	PIK3R3	ENSG00000117461.15	transcript	ENST00000262741.10	protein_coding	3/9			chr1	TogoVar
PIK3R3_chr1_46035140_46137629	46071730	T T	TATATATA others(23): Show TATATATATATAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0036 a0001c0001t0003g0036	1	318	0.0031	30	c.315 others(47): Show c.315-4640_315-4639insCTCTCTCTCTCTCTCTCTCTATATATAT AT	PIK3R3	ENSG00000117461.15	transcript	ENST00000262741.10	protein_coding	3/9			chr1	TogoVar
PIK3R3_chr1_46035140_46137629	46071730	T T	TATATATA others(23): Show TATATATATATATAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG02818.hp1 HG01167.hp1 HG01169.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0027 a0001c0001t0003g0053 a0001c0001t0003g0055 a0001c0001t0003g0027 a0001c0001t0003g0053 a0001c0001t0003g0055	3	318	0.0094	30	c.315 others(47): Show c.315-4640_315-4639insCTCTCTCTCTCTCTCTCTATATATATAT AT	PIK3R3	ENSG00000117461.15	transcript	ENST00000262741.10	protein_coding	3/9			chr1	TogoVar
PIK3R3_chr1_46035140_46137629	46071730	T T	TATATATA others(23): Show TATATATATATATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0054 a0001c0001t0003g0054	1	318	0.0031	30	c.315 others(47): Show c.315-4640_315-4639insCTCTCTCTCTCTCTCTATATATATATAT AT	PIK3R3	ENSG00000117461.15	transcript	ENST00000262741.10	protein_coding	3/9			chr1	TogoVar
PIK3R3_chr1_46035140_46137629	46071730	T T	TATATATA others(23): Show TATATATATATATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0050 a0001c0001t0003g0050	1	318	0.0031	30	c.315 others(47): Show c.315-4640_315-4639insCTCTCTCTCTCTCTATATATATATATAT AT	PIK3R3	ENSG00000117461.15	transcript	ENST00000262741.10	protein_coding	3/9			chr1	TogoVar
PIK3R3_chr1_46035140_46137629	46071759	A A	AGAGAGAG others(23): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGC	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0043 a0001c0001t0003g0043	1	318	0.0031	30	c.315 others(47): Show c.315-4669_315-4668insGCTCTCTCTCTCTCTCTCTCTCTCTCTC TC	PIK3R3	ENSG00000117461.15	transcript	ENST00000262741.10	protein_coding	3/9			chr1	TogoVar
PIK3R3_chr1_46035140_46137629	46071759	A A	AGAGAGAG others(23): Show AGAGAGAGAGAGAGAGAGAGAGCGAGCGAGC	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0017 a0001c0001t0005g0017	1	318	0.0031	30	c.315 others(47): Show c.315-4669_315-4668insGCTCGCTCGCTCTCTCTCTCTCTCTCTC TC	PIK3R3	ENSG00000117461.15	transcript	ENST00000262741.10	protein_coding	3/9			chr1	TogoVar
PIK3R6_chr17_8797722_8872674	8840242	A A	ATATATGA others(23): Show ATATATGAAATATATACAGCCTACAAATATG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01943.hp1 HG01167.hp2 HG01169.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0310 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0310 a0001c0001t0001g0329 a0001c0001t0001g0330	3	354	0.0085	30	c.14- others(43): Show c.14-575_14-546dupCATATTTGTAGGCTGTATATATTTCATATA	PIK3R6	ENSG00000276231.5	transcript	ENST00000619866.5	protein_coding	2/19			chr17	TogoVar
PIP4K2A_chr10_22529854_22719578	22664150	T T	TATATACA others(23): Show TATATACATATATATATACATATATATACAC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0022 a0001c0010t0022	a0001c0010t0022g0167 a0001c0010t0022g0167	1	206	0.0049	30	c.144 others(49): Show c.144+50032_144+50033insGTGTATATATATGTATATATATATGT ATAT	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	1/9			chr10	TogoVar
PIP5K1A_chr1_151193552_151254531	151241424	A A	AAGCATGG others(23): Show AAGCATGGTGGTGGGCTCCCAAGTCCCAGCT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03688.hp2 NA20805.hp1 HG03239.hp2 HG03688.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0316 a0001c0001t0008g0317 a0001c0001t0008g0318 a0001c0001t0008g0316 a0001c0001t0008g0317 a0001c0001t0008g0318	3	334	0.0090	30	c.136 others(47): Show c.1364-698_1364-697insGCATGGTGGTGGGCTCCCAAGTCCCAGC TA	PIP5K1A	ENSG00000143398.20	transcript	ENST00000368888.9	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PIP5K1A_chr1_151193552_151254531	151251260	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0169 a0001c0001t0005g0169	1	334	0.0030	30	c.33 others(41): Show c.3395_*3396insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PIP5K1A	ENSG00000143398.20	transcript	ENST00000368888.9	protein_coding		1730		chr1	TogoVar
PIP5K1B_chr9_68700240_69014176	68788474	T T	TTTTTGTT others(23): Show TTTTTGTTTTGTTTTGTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02895.hp1 HG02897.hp2 others(1): Show HG01891.hp2 HG02895.hp1 HG02897.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 others(1): Show a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092	4	220	0.0182	30	c.-85 others(49): Show c.-85-29958_-85-29957insGTTTTGTTTTGTTTTGTTTTGTTTTG TTTT	PIP5K1B	ENSG00000107242.20	transcript	ENST00000265382.8	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
PIP5K1B_chr9_68700240_69014176	68925795	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02698.hp1 HG03130.hp2 others(4): Show HG01496.hp2 HG02698.hp1 HG03130.hp2 HG03195.hp2 HG03704.hp2 NA18950.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0023 a0001c0001t0001g0060 a0001c0001t0001g0087 others(4): Show a0001c0001t0001g0023 a0001c0001t0001g0060 a0001c0001t0001g0087 a0001c0001t0002g0173 a0001c0001t0002g0206 a0001c0001t0002g0208 a0001c0001t0002g0213	7	220	0.0318	30	c.120 others(49): Show c.1201+2429_1201+2430insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	PIP5K1B	ENSG00000107242.20	transcript	ENST00000265382.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
PIP5K1C_chr19_3625183_3705468	3694245	G G	GGAAGTCA others(23): Show GGAAGTCACTTGCTCAGAGGCACACGGGTCT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	332	0.0030	30	c.94+ others(45): Show c.94+6022_94+6051dupAGACCCGTGTGCCTCTGAGCAAGTGACTTC	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	1/17			chr19	TogoVar
PIPOX_chr17_29038141_29062216	29039609	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0021 a0005c0006t0002g0021	1	396	0.0025	30	c.-36 others(41): Show c.-3617_-3616insATATATATATATATATATATATATATATAT	PIPOX	ENSG00000179761.12	transcript	ENST00000323372.9	protein_coding		3531		chr17	TogoVar
PIR_chrX_15379799_15498333	15483174	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	272	0.0037	30	c.97- others(45): Show c.97-3354_97-3353insCTATATATATATATATATATATATATATAT	PIR	ENSG00000087842.11	transcript	ENST00000380420.10	protein_coding	2/9			chrX	TogoVar
PITPNC1_chr17_67372281_67702256	67425193	G G	GCGCGCGC others(23): Show GCGCGCGCGCGCGCGCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0156 a0001c0001t0004g0156	1	218	0.0046	30	c.48+ others(47): Show c.48+46992_48+46993insGCGCGCGCGCGCGCACACACACACACAC AC	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(23): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02258.hp2 NA18943.hp1 others(2): Show HG01243.hp1 HG02258.hp2 NA18943.hp1 NA18969.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0023 a0001c0001t0024 others(2): Show a0001c0001t0001 a0001c0001t0023 a0001c0001t0024 a0001c0001t0042 a0001c0001t0045	a0001c0001t0001g0124 a0001c0001t0023g0115 a0001c0001t0024g0109 others(2): Show a0001c0001t0001g0124 a0001c0001t0023g0115 a0001c0001t0024g0109 a0001c0001t0042g0074 a0001c0001t0045g0108	5	218	0.0229	30	c.49- others(47): Show c.49-38616_49-38615insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67502744	C C	CATTGCAT others(23): Show CATTGCATTGCATTGTATTGTATTGTATTGT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0112 a0001c0001t0047g0112	1	218	0.0046	30	c.49- others(47): Show c.49-30054_49-30053insCATTGCATTGTATTGTATTGTATTGTAT TG	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(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02818.hp1 HG01891.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0056 a0001c0001t0007 a0001c0001t0056	a0001c0001t0007g0075 a0001c0001t0056g0092 a0001c0001t0007g0075 a0001c0001t0056g0092	2	218	0.0092	30	c.49- others(47): Show c.49-10129_49-10128insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	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(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02148.hp1 HG02004.hp2 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0132 a0001c0001t0002g0116 a0001c0001t0001g0132 a0001c0001t0002g0116	2	218	0.0092	30	c.366 others(49): Show c.366+20749_366+20778dupATATATATATATATATATATATATAT ATAT	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(23): Show ATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	218	0.0046	30	c.366 others(49): Show c.366+20778_366+20779insATATATATATATATATATATATATTT TTTT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67621180	C C	CATTTTAT others(23): Show CATTTTATTTTATTTTATTTTATTTTATTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp1 HG02630.hp1 others(1): Show HG00639.hp2 HG00735.hp1 HG02630.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0019 others(1): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0019 a0001c0001t0025	a0001c0001t0005g0213 a0001c0001t0009g0159 a0001c0001t0019g0085 others(1): Show a0001c0001t0005g0213 a0001c0001t0009g0159 a0001c0001t0019g0085 a0001c0001t0025g0192	4	218	0.0184	30	c.367 others(49): Show c.367-10946_367-10917dupTTTTATTTTATTTTATTTTATTTTAT TTTA	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(23): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG02056.hp1 others(3): Show HG00544.hp1 HG00544.hp2 HG02056.hp1 HG02683.hp2 HG02723.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0015	a0001c0001t0001g0082 a0001c0001t0003g0009 a0001c0001t0004g0130 others(3): Show a0001c0001t0001g0082 a0001c0001t0003g0009 a0001c0001t0004g0130 a0001c0001t0004g0191 a0001c0001t0006g0119 a0001c0001t0015g0015	6	218	0.0275	30	c.367 others(47): Show c.367-2877_367-2876insTGTGTGTGTGTGTGTGTGTGTGTGTGTG TG	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(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01192.hp1 HG01934.hp1 others(4): Show HG00140.hp2 HG01192.hp1 HG01934.hp1 HG01934.hp2 HG02738.hp2 NA18943.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 a0001c0001t0023	a0001c0001t0001g0160 a0001c0001t0003g0006 a0001c0001t0003g0007 others(4): Show a0001c0001t0001g0160 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0021 a0001c0001t0003g0033 a0001c0001t0014g0016 a0001c0001t0023g0115	7	218	0.0321	30	c.683 others(47): Show c.683-4221_683-4220insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNM1_chr11_67486768_67510363	67494793	T T	TGAGTGGG others(23): Show TGAGTGGGCGAGAGTGGGCGAGAGTGGGCGA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	300	0.0033	30	c.274 others(45): Show c.2742+52_2742+53insTCGCCCACTCTCGCCCACTCTCGCCCACTC	PITPNM1	ENSG00000110697.13	transcript	ENST00000356404.8	protein_coding	18/23			chr11	TogoVar
PITPNM3_chr17_6446263_6561555	6491836	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03139.hp1 NA18952.hp1 others(1): Show HG02630.hp2 HG03139.hp1 NA18952.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0015 a0001c0002t0029 a0001c0003t0001 a0001c0001t0015 a0001c0002t0029 a0001c0003t0001	a0001c0001t0015g0029 a0001c0002t0029g0130 a0001c0003t0001g0202 others(1): Show a0001c0001t0015g0029 a0001c0002t0029g0130 a0001c0003t0001g0202 a0001c0003t0001g0203	4	218	0.0184	30	c.275 others(47): Show c.275-7545_275-7544insTTATATATATATATATATATATATATAT AT	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	4/19			chr17	TogoVar
PITRM1_chr10_3132728_3177782	3174583	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG01081.hp2 NA18951.hp1 others(5): Show HG00408.hp1 HG01081.hp2 NA18951.hp1 NA18962.hp1 NA18984.hp2 NA18989.hp2 NA19066.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0073 a0001c0002t0001g0004 a0001c0002t0001g0254 others(1): Show a0001c0001t0001g0073 a0001c0002t0001g0004 a0001c0002t0001g0254 a0001c0002t0001g0263	8	446	0.0179	30	c.-18 others(41): Show c.-1812_-1811insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PITRM1	ENSG00000107959.17	transcript	ENST00000224949.9	protein_coding		1802		chr10	TogoVar
PIWIL3_chr22_24714034_24779720	24757079	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA18522.hp1 HG01884.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0354 a0001c0001t0001g0357 a0001c0001t0001g0354 a0001c0001t0001g0357	2	386	0.0052	30	c.356 others(45): Show c.356-375_356-374insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PIWIL3	ENSG00000184571.14	transcript	ENST00000616349.5	protein_coding	4/20			chr22	TogoVar
PIWIL3_chr22_24714034_24779720	24757671	C C	CACACACA others(23): Show CACACACATATATATAAAATATGTATATATT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03209.hp1 HG02818.hp2 HG03209.hp1	a0001 a0026 a0001 a0026	a0001c0007 a0026c0027 a0001c0007 a0026c0027	a0001c0007t0002 a0026c0027t0002 a0001c0007t0002 a0026c0027t0002	a0001c0007t0002g0089 a0026c0027t0002g0088 a0001c0007t0002g0089 a0026c0027t0002g0088	2	386	0.0052	30	c.355 others(45): Show c.355+236_355+237insAATATATACATATTTTATATATATGTGTGT	PIWIL3	ENSG00000184571.14	transcript	ENST00000616349.5	protein_coding	4/20			chr22	TogoVar
PKD1L1_chr7_47769614_47953466	47865568	A A	ATTATTTT others(23): Show ATTATTTTATTTTATTTTATTTTATTTTATT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01346.hp1 HG03710.hp2 others(1): Show HG00280.hp2 HG01346.hp1 HG03710.hp2 NA19065.hp1	a0004 a0011 a0013 others(1): Show a0004 a0011 a0013 a0035	a0004c0029 a0011c0016 a0013c0020 others(1): Show a0004c0029 a0011c0016 a0013c0020 a0035c0116	a0004c0029t0002 a0011c0016t0002 a0013c0020t0001 others(1): Show a0004c0029t0002 a0011c0016t0002 a0013c0020t0001 a0035c0116t0001	a0004c0029t0002g0275 a0011c0016t0002g0198 a0013c0020t0001g0038 others(1): Show a0004c0029t0002g0275 a0011c0016t0002g0198 a0013c0020t0001g0038 a0035c0116t0001g0189	4	306	0.0131	30	c.409 others(47): Show c.4093-326_4093-297dupAATAAAATAAAATAAAATAAAATAAAAT AA	PKD1L1	ENSG00000158683.10	transcript	ENST00000289672.7	protein_coding	25/56			chr7	TogoVar
PKD1L1_chr7_47769614_47953466	47902033	G G	GGAAAAGA others(23): Show GGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02451.hp1 HG02257.hp1 HG02451.hp1	a0015 a0060 a0015 a0060	a0015c0014 a0060c0093 a0015c0014 a0060c0093	a0015c0014t0001 a0060c0093t0001 a0015c0014t0001 a0060c0093t0001	a0015c0014t0001g0024 a0060c0093t0001g0013 a0015c0014t0001g0024 a0060c0093t0001g0013	2	306	0.0065	30	c.206 others(47): Show c.2064+345_2064+346insTTTTCTTTTCTTTTCTTTTCTTTTCTTT TC	PKD1L1	ENSG00000158683.10	transcript	ENST00000289672.7	protein_coding	13/56			chr7	TogoVar
PKHD1L1_chr8_109357461_109542207	109410726	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTGTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0030 a0030	a0030c0055 a0030c0055	a0030c0055t0007 a0030c0055t0007	a0030c0055t0007g0260 a0030c0055t0007g0260	1	282	0.0036	30	c.208 others(47): Show c.2085+766_2085+767insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	PKHD1L1	ENSG00000205038.12	transcript	ENST00000378402.10	protein_coding	19/77		INFO_REALIGN_3_PRIME	chr8	TogoVar
PKHD1L1_chr8_109357461_109542207	109410734	T T	TTTTTTTT others(23): Show TTTTTTTTTTTGTTTTTTTTTTTTTTGTTTG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0193 a0001c0001t0010g0193	1	282	0.0036	30	c.208 others(47): Show c.2085+766_2085+767insGTTTTTTTTTTTTTTGTTTGTTTTTTTT TT	PKHD1L1	ENSG00000205038.12	transcript	ENST00000378402.10	protein_coding	19/77		INFO_REALIGN_3_PRIME	chr8	TogoVar
PKHD1L1_chr8_109357461_109542207	109487890	G G	GGAAGGAA others(23): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0059 a0059	a0059c0046 a0059c0046	a0059c0046t0004 a0059c0046t0004	a0059c0046t0004g0009 a0059c0046t0004g0009	1	282	0.0036	30	c.988 others(49): Show c.9880+1069_9880+1070insGAAGGAAGGAAGGAAGGAAGGAAGGA AGGA	PKHD1L1	ENSG00000205038.12	transcript	ENST00000378402.10	protein_coding	59/77			chr8	TogoVar
PKHD1_chr6_51610299_52092613	51801654	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGAGA	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA20752.hp2 HG02970.hp1 NA20752.hp2	a0003 a0042 a0003 a0042	a0003c0041 a0042c0035 a0003c0041 a0042c0035	a0003c0041t0001 a0042c0035t0006 a0003c0041t0001 a0042c0035t0006	a0003c0041t0001g0046 a0042c0035t0006g0059 a0003c0041t0001g0046 a0042c0035t0006g0059	2	134	0.0149	30	c.830 others(51): Show c.8303-10282_8303-10281insTCTCACACACACACACACACACAC ACACAC	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	52/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51801654	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0007 a0007	a0007c0003 a0007c0003	a0007c0003t0001 a0007c0003t0001	a0007c0003t0001g0012 a0007c0003t0001g0012	1	134	0.0075	30	c.830 others(51): Show c.8303-10282_8303-10281insTCACACACACACACACACACACAC ACACAC	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	52/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51981304	G G	GCTCTCCC others(23): Show GCTCTCCCTCCCCCTCCCCCTCCCCCTCCCC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	134	0.0075	30	c.575 others(51): Show c.5752-21279_5752-21278insGGGGAGGGGGAGGGGGAGGGGGAG GGAGAG	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKIA_chr8_78511340_78610267	78524053	T T	TATAAACA others(23): Show TATAAACATTTATATTTATATATAAATATAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	186	0.0054	30	c.-15 others(49): Show c.-157+7615_-157+7644dupAATAAACATTTATATTTATATATAAA TATA	PKIA	ENSG00000171033.13	transcript	ENST00000396418.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
PKIA_chr8_78511340_78610267	78602694	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0019 a0001c0001t0017g0019	1	186	0.0054	30	c.89 others(39): Show c.893_*894insATATATATATATATATATATATATATATAT	PKIA	ENSG00000171033.13	transcript	ENST00000396418.7	protein_coding	4/4	894	INFO_REALIGN_3_PRIME	chr8	TogoVar
PKN2_chr1_88679273_88841255	88820180	C C	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0060 a0002c0006t0002g0060	1	330	0.0030	30	c.228 others(49): Show c.2280-1736_2280-1707dupTATATATATATATATATATATATATA TATA	PKN2	ENSG00000065243.20	transcript	ENST00000370521.8	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
PKN3_chr9_128697503_128725916	128717117	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA19057.hp1 NA19057.hp2 NA18998.hp1 NA19057.hp1 NA19057.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0009 a0001c0001 a0006c0009	a0001c0001t0001 a0006c0009t0001 a0001c0001t0001 a0006c0009t0001	a0001c0001t0001g0096 a0001c0001t0001g0141 a0006c0009t0001g0140 a0001c0001t0001g0096 a0001c0001t0001g0141 a0006c0009t0001g0140	3	360	0.0083	30	c.198 others(47): Show c.1985+220_1985+221insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	PKN3	ENSG00000160447.7	transcript	ENST00000291906.5	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
PKNOX1_chr21_42969562_43038931	42987404	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0098 a0001c0001t0012g0098	1	362	0.0028	30	c.-57 others(49): Show c.-57+12741_-57+12742insAAAAAAAAAAAATATATATATATATA TATA	PKNOX1	ENSG00000160199.15	transcript	ENST00000291547.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PKNOX1_chr21_42969562_43038931	42987404	A A	AAAAAATA others(23): Show AAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0276 a0001c0001t0015g0276	1	362	0.0028	30	c.-57 others(49): Show c.-57+12741_-57+12742insAAAATATATATATATATATATATATA TATA	PKNOX1	ENSG00000160199.15	transcript	ENST00000291547.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PKNOX1_chr21_42969562_43038931	42987404	A A	AAAATATA others(23): Show AAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02622.hp2 HG00323.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0008 a0001c0001t0007 a0001c0001t0008	a0001c0001t0007g0012 a0001c0001t0008g0278 a0001c0001t0007g0012 a0001c0001t0008g0278	2	362	0.0055	30	c.-57 others(49): Show c.-57+12741_-57+12742insAATATATATATATATATATATATATA TATA	PKNOX1	ENSG00000160199.15	transcript	ENST00000291547.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PKNOX2_chr11_125159751_125438389	125189405	A A	ATATATAT others(23): Show ATATATATATGTGTGTATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02818.hp1 HG03098.hp1 others(1): Show HG02280.hp2 HG02818.hp1 HG03098.hp1 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0002 a0001c0001t0005 a0003c0007t0004 a0001c0001t0002 a0001c0001t0005 a0003c0007t0004	a0001c0001t0002g0139 a0001c0001t0005g0107 a0001c0001t0005g0175 others(1): Show a0001c0001t0002g0139 a0001c0001t0005g0107 a0001c0001t0005g0175 a0003c0007t0004g0180	4	222	0.0180	30	c.-20 others(51): Show c.-201+24644_-201+24645insATATATATATGTGTGTATATATAT GTGTGT	PKNOX2	ENSG00000165495.16	transcript	ENST00000298282.14	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP2_chr12_32785755_32901777	32865681	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02886.hp2 NA18906.hp1 others(1): Show HG01175.hp1 HG02886.hp2 NA18906.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0019 a0001c0001t0003g0021 a0001c0001t0003g0022 others(1): Show a0001c0001t0003g0019 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0005g0149	4	342	0.0117	30	c.117 others(49): Show c.1170+3245_1170+3246insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	PKP2	ENSG00000057294.18	transcript	ENST00000340811.9	protein_coding	4/12			chr12	TogoVar
PKP3_chr11_389209_409908	398140	T T	TCCGTCAC others(23): Show TCCGTCACCTCCGTACCCCCGCACACACCTG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0176 a0001c0002t0001g0176	1	216	0.0046	30	c.106 others(47): Show c.1068+479_1068+480insCGTCACCTCCGTACCCCCGCACACACCT GC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	398197	T T	TCTGTCAC others(23): Show TCTGTCACCTCCCTACCCCCGCACACACCTG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03834.hp1 NA19011.hp1 HG02622.hp2 HG03834.hp1 NA19011.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0001c0021 a0013c0027 a0001c0001 a0001c0021 a0013c0027	a0001c0001t0001 a0001c0021t0001 a0013c0027t0001 a0001c0001t0001 a0001c0021t0001 a0013c0027t0001	a0001c0001t0001g0014 a0001c0021t0001g0086 a0013c0027t0001g0170 a0001c0001t0001g0014 a0001c0021t0001g0086 a0013c0027t0001g0170	3	216	0.0139	30	c.106 others(47): Show c.1068+536_1068+537insTGTCACCTCCCTACCCCCGCACACACCT GC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	398197	T T	TGCGTCAC others(23): Show TGCGTCACCTCCCTACCCCCGCACACACCTG	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0174 a0001c0002t0001g0174	1	216	0.0046	30	c.106 others(47): Show c.1068+535_1068+536insGCGTCACCTCCCTACCCCCGCACACACC TG	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12			chr11	TogoVar

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