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
PFKP_chr10_3062548_3141802	3106962	T T	TGCCCCTG others(25): Show TGCCCCTGCCCCTTCACCCCTGCCCCTCTCCTC	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0005 a0001c0008t0005	a0001c0008t0005g0202 a0001c0008t0005g0202	1	402	0.0025	32	c.775 others(47): Show c.775-239_775-208dupTCACCCCTGCCCCTCTCCTCGCCCCTGCCC CT	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PGAP3_chr17_39666122_39693057	39691556	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG03098.hp2 HG02738.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0183 a0001c0001t0001g0046 a0001c0001t0001g0183	2	376	0.0053	32	c.-35 others(43): Show c.-3543_-3542insATATATATATATATTTTTTTTTTTTTTTTTTT	PGAP3	ENSG00000161395.14	transcript	ENST00000300658.9	protein_coding		3500		chr17	TogoVar
PGAP3_chr17_39666122_39693057	39691556	A A	AAAAAAAA others(25): Show AAAAAAAAAAAATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	376	0.0027	32	c.-35 others(43): Show c.-3543_-3542insATATATATATATATATATATATTTTTTTTTTT	PGAP3	ENSG00000161395.14	transcript	ENST00000300658.9	protein_coding		3500		chr17	TogoVar
PGLYRP2_chr19_15463645_15484501	15482612	C C	CTTCCTTC others(25): Show CTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	382	0.0026	32	c.-32 others(43): Show c.-3242_-3241insAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAA	PGLYRP2	ENSG00000161031.13	transcript	ENST00000340880.5	protein_coding		3112		chr19	TogoVar
PGLYRP3_chr1_153292116_153317952	153297581	G G	GAAGAAAG others(25): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03209.hp2 HG03471.hp1 HG03209.hp2 HG03471.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0067 a0002c0002t0097 a0002c0002t0067 a0002c0002t0097	a0002c0002t0067g0218 a0002c0002t0097g0080 a0002c0002t0067g0218 a0002c0002t0097g0080	2	434	0.0046	32	c.37 others(41): Show c.374_*375insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	PGLYRP3	ENSG00000159527.4	transcript	ENST00000683862.1	protein_coding	8/8	374		chr1	TogoVar
PGM2L1_chr11_74325316_74403433	74383824	A A	AATAAATA others(25): Show AATAAATAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01891.hp2 HG02145.hp1 others(2): Show HG01106.hp1 HG01891.hp2 HG02145.hp1 HG03130.hp1 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0267 a0002c0002t0004g0268 a0002c0002t0004g0269 others(2): Show a0002c0002t0004g0267 a0002c0002t0004g0268 a0002c0002t0004g0269 a0002c0002t0004g0270 a0002c0002t0004g0271	5	380	0.0132	32	c.112 others(49): Show c.112-9243_112-9242insATATATATATATATATATATATATTTAT TTAT	PGM2L1	ENSG00000165434.8	transcript	ENST00000298198.5	protein_coding	1/13			chr11	TogoVar
PGM2L1_chr11_74325316_74403433	74383824	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03130.hp2 HG03209.hp1 others(1): Show HG02055.hp1 HG03130.hp2 HG03209.hp1 NA19009.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0001c0004 a0002c0002	a0001c0004t0015 a0002c0002t0004 a0002c0002t0005 a0001c0004t0015 a0002c0002t0004 a0002c0002t0005	a0001c0004t0015g0245 a0001c0004t0015g0246 a0002c0002t0004g0251 others(1): Show a0001c0004t0015g0245 a0001c0004t0015g0246 a0002c0002t0004g0251 a0002c0002t0005g0171	4	380	0.0105	32	c.112 others(49): Show c.112-9243_112-9242insATATATATATATATATATATATATATAT ATAT	PGM2L1	ENSG00000165434.8	transcript	ENST00000298198.5	protein_coding	1/13			chr11	TogoVar
PGM2_chr4_37821686_37867937	37841100	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18973.hp1 NA18964.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	2	446	0.0045	32	c.719 others(47): Show c.719+842_719+843insATATATATATATATATATATATATATATAT GT	PGM2	ENSG00000169299.14	transcript	ENST00000381967.9	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
PGPEP1_chr19_18335598_18374950	18364083	G G	GCTGGCTT others(25): Show GCTGGCTTTCTTTCTTTCTTTCTTTCTTTCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0165 a0001c0001t0165	a0001c0001t0165g0035 a0001c0001t0165g0035	1	412	0.0024	32	c.50 others(41): Show c.502_*503insGGCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	PGPEP1	ENSG00000130517.14	transcript	ENST00000269919.11	protein_coding	5/5	503	INFO_REALIGN_3_PRIME	chr19	TogoVar
PGPEP1_chr19_18335598_18374950	18364083	G G	GCTTGCTT others(25): Show GCTTGCTTTCTTTCTTTCTTTCTTTCTTTCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0208 a0001c0001t0208	a0001c0001t0208g0123 a0001c0001t0208g0123	1	412	0.0024	32	c.50 others(41): Show c.503_*504insGCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	PGPEP1	ENSG00000130517.14	transcript	ENST00000269919.11	protein_coding	5/5	504	INFO_REALIGN_3_PRIME	chr19	TogoVar
PGPEP1_chr19_18335598_18374950	18364083	G G	GCTTTCTT others(25): Show GCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01261.hp2 HG02145.hp2 HG02258.hp1 others(4): Show HG01261.hp2 HG02145.hp2 HG02258.hp1 HG02300.hp1 HG03209.hp1 HG03492.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0256 a0001c0001t0257 others(3): Show a0001c0001t0047 a0001c0001t0256 a0001c0001t0257 a0001c0001t0258 a0001c0001t0259 a0001c0001t0260	a0001c0001t0047g0184 a0001c0001t0047g0185 a0001c0001t0256g0129 others(4): Show a0001c0001t0047g0184 a0001c0001t0047g0185 a0001c0001t0256g0129 a0001c0001t0257g0156 a0001c0001t0258g0005 a0001c0001t0259g0043 a0001c0001t0260g0038	7	412	0.0170	32	c.53 others(41): Show c.531_*532insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	PGPEP1	ENSG00000130517.14	transcript	ENST00000269919.11	protein_coding	5/5	532	INFO_REALIGN_3_PRIME	chr19	TogoVar
PGPEP1_chr19_18335598_18374950	18364083	G G	GCTTTTCT others(25): Show GCTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0127 a0001c0001t0127	a0001c0001t0127g0188 a0001c0001t0127g0188	1	412	0.0024	32	c.50 others(41): Show c.504_*505insTCTTTCTTTCTTTCTTTCTTTCTTTTTTCTTT	PGPEP1	ENSG00000130517.14	transcript	ENST00000269919.11	protein_coding	5/5	505	INFO_REALIGN_3_PRIME	chr19	TogoVar
PGS1_chr17_78373649_78429659	78425756	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0351 a0001c0001t0001g0351	1	398	0.0025	32	c.17 others(43): Show c.1706_*1707insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PGS1	ENSG00000087157.19	transcript	ENST00000262764.11	protein_coding		1098		chr17	TogoVar
PHACTR1_chr6_12711767_13292837	13000614	G G	GAGGAAGG others(25): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02647.hp1 NA18906.hp2 HG01496.hp2 HG02647.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0003 a0001c0001t0001g0046 a0001c0001t0002g0085 a0001c0001t0001g0003 a0001c0001t0001g0046 a0001c0001t0002g0085	3	108	0.0278	32	c.251 others(51): Show c.251-52724_251-52723insAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGG	PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHACTR1_chr6_12711767_13292837	13003961	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02258.hp1 HG01167.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0080 a0001c0002t0001g0031 a0001c0001t0003g0080 a0001c0002t0001g0031	2	108	0.0185	32	c.251 others(51): Show c.251-49401_251-49400insATATATATATATATATATATATATAT ATGTAT	PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHACTR1_chr6_12711767_13292837	13003963	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01433.hp2 HG02258.hp2 others(3): Show HG01192.hp1 HG01433.hp2 HG02258.hp2 HG03130.hp1 HG03139.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0100 a0001c0001t0002g0033 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0100 a0001c0001t0002g0033 a0001c0001t0003g0041 a0001c0001t0003g0044 a0001c0001t0003g0104	6	108	0.0556	32	c.251 others(51): Show c.251-49401_251-49400insATATATATATATATATATATATATAT ATATGT	PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHACTR1_chr6_12711767_13292837	13048522	T T	TTGTGTGT others(25): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	108	0.0093	32	c.251 others(49): Show c.251-4842_251-4811dupTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTG	PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHACTR1_chr6_12711767_13292837	13193357	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0056	1	108	0.0093	32	c.664 others(51): Show c.664+10699_664+10700insTATATATATATATATATATATATATA TATATA	PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHACTR3_chr20_59599540_59852711	59622981	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0044	1	250	0.0040	32	c.118 others(51): Show c.118+17869_118+17870insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHACTR3_chr20_59599540_59852711	59635169	C C	CCTTTCTT others(25): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0244 a0001c0001t0006g0244	1	250	0.0040	32	c.118 others(51): Show c.118+30063_118+30064insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCT	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHAX_chr5_126595947_126632252	126609095	A A	ATTTTTTT others(25): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	382	0.0026	32	c.831 others(47): Show c.831+634_831+635insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	PHAX	ENSG00000164902.14	transcript	ENST00000297540.5	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
PHC2_chr1_33318626_33436095	33356273	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATACG	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18944.hp2 NA18939.hp1 NA18944.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0044 a0002c0004t0004g0051 a0002c0004t0004g0044 a0002c0004t0004g0051	2	370	0.0054	32	c.977 others(49): Show c.977-1021_977-1020insCGTATATATATATATATATATATATATA TATA	PHC2	ENSG00000134686.21	transcript	ENST00000683057.1	protein_coding	7/14			chr1	TogoVar
PHC3_chr3_170082584_170186733	170111394	G G	GAGGAAGG others(25): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA18951.hp2 NA18982.hp2 others(2): Show HG02015.hp1 NA18951.hp2 NA18982.hp2 NA18991.hp2 NA19066.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0310 a0001c0002t0005g0318 a0001c0002t0005g0319 others(2): Show a0001c0002t0005g0310 a0001c0002t0005g0318 a0001c0002t0005g0319 a0001c0002t0005g0322 a0001c0002t0005g0326	5	332	0.0151	32	c.235 others(51): Show c.2353+1965_2353+1966insTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCT	PHC3	ENSG00000173889.16	transcript	ENST00000495893.7	protein_coding	11/14			chr3	TogoVar
PHETA1_chr12_111355679_111374095	111358247	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0003 a0005c0005t0003	a0005c0005t0003g0035 a0005c0005t0003g0035	1	380	0.0026	32	c.44 others(43): Show c.4430_*4431insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PHETA1	ENSG00000198324.14	transcript	ENST00000683047.1	protein_coding		2431		chr12	TogoVar
PHEX_chrX_22027325_22256310	22041265	C C	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0101 a0001c0001t0101	a0001c0001t0101g0045 a0001c0001t0101g0045	1	231	0.0043	32	c.187 others(49): Show c.187+2729_187+2730insCTCTCTCTCTCTCTCTATATATATATAT ATAT	PHEX	ENSG00000102174.10	transcript	ENST00000379374.5	protein_coding	2/21		INFO_REALIGN_3_PRIME	chrX	TogoVar
PHF12_chr17_28900250_28956518	28923653	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02155.hp1 HG00408.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0153 a0001c0001t0001g0154	2	232	0.0086	32	c.715 others(47): Show c.715+255_715+256insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	PHF12	ENSG00000109118.14	transcript	ENST00000332830.9	protein_coding	4/14			chr17	TogoVar
PHF14_chr7_10968872_11174618	11122352	T T	TATATATA others(25): Show TATATATATATATATATACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	298	0.0034	32	c.277 others(53): Show c.2772+10886_2772+10887insTATATATATATATATACACACACA CACACACA	PHF14	ENSG00000106443.17	transcript	ENST00000634607.2	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
PHF14_chr7_10968872_11174618	11122352	T T	TATATATA others(25): Show TATATATATATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19085.hp1 NA19043.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0245 a0001c0002t0001g0054 a0001c0001t0001g0245 a0001c0002t0001g0054	2	298	0.0067	32	c.277 others(53): Show c.2772+10886_2772+10887insTATATATATATATATATATATACA CACACACA	PHF14	ENSG00000106443.17	transcript	ENST00000634607.2	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
PHF14_chr7_10968872_11174618	11122352	T T	TATATATA others(25): Show TATATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0066 a0001c0002t0001g0066	1	298	0.0034	32	c.277 others(53): Show c.2772+10886_2772+10887insTATATATATATATATATATATATA CACACACA	PHF14	ENSG00000106443.17	transcript	ENST00000634607.2	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
PHF19_chr9_120850651_120882188	120877397	G G	GAGCCCGC others(25): Show GAGCCCGCGGCCGCCGGGCTCCGCAGCGCCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp2 NA19083.hp2 NA19091.hp2 NA19003.hp2 NA19083.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0003g0210 a0001c0001t0001g0001 a0001c0001t0003g0210	3	408	0.0074	32	c.-35 others(41): Show c.-354_-323dupGGCGGCGCTGCGGAGCCCGGCGGCCGCGGGCT	PHF19	ENSG00000119403.15	transcript	ENST00000373896.8	protein_coding		210		chr9	TogoVar
PHF1_chr6_33406014_33421439	33409705	C C	CTCTGTGT others(25): Show CTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	363	0.0028	32	c.-15 others(43): Show c.-1527_-1526insTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	PHF1	ENSG00000112511.18	transcript	ENST00000374516.8	protein_coding		1308		chr6	TogoVar
PHF20_chr20_35767015_35955370	35903077	C C	CCTTTCCT others(25): Show CCTTTCCTTTCCTTTCCTTTCCTATCCTTTCTT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0171 a0001c0001t0002g0171	1	206	0.0049	32	c.156 others(51): Show c.1561+3429_1561+3430insCTTTCCTTTCCTTTCCTTTCCTATCC TTTCTT	PHF20	ENSG00000025293.17	transcript	ENST00000374012.8	protein_coding	10/17			chr20	TogoVar
PHF20_chr20_35767015_35955370	35904767	C C	CTCCTTCC others(25): Show CTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02809.hp2 HG03041.hp1 others(1): Show HG02572.hp1 HG02809.hp2 HG03041.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0003t0005 a0001c0003t0006 others(1): Show a0001c0001t0001 a0001c0003t0005 a0001c0003t0006 a0001c0004t0011	a0001c0001t0001g0020 a0001c0003t0005g0018 a0001c0003t0006g0024 others(1): Show a0001c0001t0001g0020 a0001c0003t0005g0018 a0001c0003t0006g0024 a0001c0004t0011g0203	4	206	0.0194	32	c.156 others(51): Show c.1561+5125_1561+5156dupCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTT	PHF20	ENSG00000025293.17	transcript	ENST00000374012.8	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHF21A_chr11_45924319_46126454	45971890	C C	CTTTCTTT others(25): Show CTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0176 a0001c0001t0003g0176	1	280	0.0036	32	c.361 others(47): Show c.361-524_361-523insAAAAAAAAAAAAAAAAAAAAAAAAAAAAGA AA	PHF21A	ENSG00000135365.17	transcript	ENST00000676320.1	protein_coding	7/18			chr11	TogoVar
PHF3_chr6_63630802_63731011	63680547	C C	CACGAAAA others(25): Show CACGAAAAAGAACATCTTTTTCATTTTTCCAAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03139.hp1 HG03041.hp2 HG03139.hp1	a0001 a0014 a0001 a0014	a0001c0001 a0014c0019 a0001c0001 a0014c0019	a0001c0001t0083 a0014c0019t0084 a0001c0001t0083 a0014c0019t0084	a0001c0001t0083g0301 a0014c0019t0084g0300 a0001c0001t0083g0301 a0014c0019t0084g0300	2	320	0.0063	32	c.406 others(47): Show c.406+387_406+388insCGAAAAAGAACATCTTTTTCATTTTTCCAA TA	PHF3	ENSG00000118482.12	transcript	ENST00000262043.8	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHF3_chr6_63630802_63731011	63727735	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0178 a0001c0001t0015g0178	1	320	0.0031	32	c.14 others(45): Show c.14027_*14028insATATATATATATATATATATATATATATATAT	PHF3	ENSG00000118482.12	transcript	ENST00000262043.8	protein_coding		1725		chr6	TogoVar
PHKA2_chrX_18887298_18989114	18957738	T T	TTTTATAT others(25): Show TTTTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	201	0.0050	32	c.79- others(47): Show c.79-3327_79-3326insTATATATATATATATATATATATATATATA AA	PHKA2	ENSG00000044446.12	transcript	ENST00000379942.5	protein_coding	1/32			chrX	TogoVar
PHLDA2_chr11_2923273_2934420	2926075	C C	CTGCCAGC others(25): Show CTGCCAGCCACCCGAACCCCAGAACCGCACCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0008 a0001c0001t0005g0008	1	375	0.0027	32	c.26 others(43): Show c.2602_*2603insCTGGTGCGGTTCTGGGGTTCGGGTGGCTGGCA	PHLDA2	ENSG00000181649.8	transcript	ENST00000314222.5	protein_coding		2197		chr11	TogoVar
PHLDB2_chr3_111854265_111981517	111866014	A A	ATTTTTTT others(25): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18946.hp2 NA18964.hp2 NA18944.hp1 NA18946.hp2 NA18964.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0001c0001t0001 a0001c0001t0004 a0002c0002t0001	a0001c0001t0001g0199 a0001c0001t0004g0198 a0002c0002t0001g0200 a0001c0001t0001g0199 a0001c0001t0004g0198 a0002c0002t0001g0200	3	286	0.0105	32	c.-15 others(49): Show c.-15+6462_-15+6463insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	PHLDB2	ENSG00000144824.21	transcript	ENST00000431670.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
PHLDB3_chr19_43470103_43509746	43487591	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0023	1	396	0.0025	32	c.115 others(49): Show c.1150-469_1150-468insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	PHLDB3	ENSG00000176531.11	transcript	ENST00000292140.10	protein_coding	9/15			chr19	TogoVar
PHLPP1_chr18_62710541_62985433	62766076	A A	AAAAAAAA others(25): Show AAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA18984.hp2 HG02055.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0001 a0001c0001t0004 a0001c0002t0001	a0001c0001t0004g0081 a0001c0002t0001g0117 a0001c0001t0004g0081 a0001c0002t0001g0117	2	192	0.0104	32	c.157 others(53): Show c.1576+48818_1576+48819insAAAAAATATATATATATATATATA TATATATA	PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr18	TogoVar
PHLPP1_chr18_62710541_62985433	62766076	A A	AAAATATA others(25): Show AAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	192	0.0052	32	c.157 others(53): Show c.1576+48818_1576+48819insAATATATATATATATATATATATA TATATATA	PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr18	TogoVar
PHLPP1_chr18_62710541_62985433	62804822	G G	GTATATAT others(25): Show GTATATATTATACATATACAGTATAATATACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01074.hp2 HG01167.hp1 others(1): Show HG00099.hp2 HG01074.hp2 HG01167.hp1 HG01169.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0008 a0003c0004t0017 a0001c0001t0001 a0003c0004t0008 a0003c0004t0017	a0001c0001t0001g0044 a0003c0004t0008g0058 a0003c0004t0008g0059 others(1): Show a0001c0001t0001g0044 a0003c0004t0008g0058 a0003c0004t0008g0059 a0003c0004t0017g0057	4	192	0.0208	32	c.157 others(53): Show c.1577-25179_1577-25148dupATATATTATACATATACAGTATAA TATACACT	PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr18	TogoVar
PHLPP1_chr18_62710541_62985433	62849828	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	192	0.0052	32	c.190 others(53): Show c.1900-10606_1900-10605insTATATATATATATATATATATATA TATATATA	PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr18	TogoVar
PHLPP1_chr18_62710541_62985433	62849832	A A	AAAAAATA others(25): Show AAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	192	0.0052	32	c.190 others(53): Show c.1900-10602_1900-10601insAAAATATATATATATATATATATA TATATATA	PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr18	TogoVar
PHLPP1_chr18_62710541_62985433	62849832	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0105 a0001c0001t0002g0105	1	192	0.0052	32	c.190 others(53): Show c.1900-10593_1900-10592insATATATATATATATATATATATAT ATATATAT	PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr18	TogoVar
PHLPP1_chr18_62710541_62985433	62918429	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0075 a0001c0001t0005g0075	1	192	0.0052	32	c.280 others(51): Show c.2805-1512_2805-1511insATATATATATATATATATATATATAT ATATAT	PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr18	TogoVar
PHLPP2_chr16_71639924_71729701	71670695	A A	AACACACA others(25): Show AACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02572.hp1 HG02615.hp1 HG01433.hp2 HG02572.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0121 a0001c0001t0005g0127 a0001c0001t0005g0130 a0001c0001t0005g0121 a0001c0001t0005g0127 a0001c0001t0005g0130	3	324	0.0093	32	c.153 others(51): Show c.1533-1326_1533-1325insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	PHLPP2	ENSG00000040199.18	transcript	ENST00000568954.5	protein_coding	10/18			chr16	TogoVar
PHYHIPL_chr10_59171643_59252770	59227975	G G	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 NA19030.hp1 HG01167.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0012 a0001c0001t0001g0014	2	202	0.0099	32	c.107 others(49): Show c.107-6317_107-6316insATATATATATATATATATATATATATAT ATAT	PHYHIPL	ENSG00000165443.12	transcript	ENST00000373880.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
PHYHIPL_chr10_59171643_59252770	59227975	G G	GATATATA others(25): Show GATATATATATATATATATATATGTATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02976.hp2 HG03516.hp2 HG00639.hp2 HG02976.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0002 a0001c0001t0003g0006 a0001c0001t0003g0007	3	202	0.0149	32	c.107 others(49): Show c.107-6317_107-6316insATATATATATGTATATATATATATATAT ATAT	PHYHIPL	ENSG00000165443.12	transcript	ENST00000373880.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr10	TogoVar

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