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
PGAM5_chr12_132705842_132727734	132718545	T T	TGTCCTGG others(23): Show TGTCCTGGGTGGGGTGCGTGCTGGGTGGGGG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00738.hp1 HG01069.hp2 others(6): Show HG00733.hp1 HG00738.hp1 HG01069.hp2 HG03654.hp2 HG03710.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0034 a0001c0001t0006 a0001c0001t0034	a0001c0001t0006g0029 a0001c0001t0006g0030 a0001c0001t0006g0065 others(4): Show a0001c0001t0006g0029 a0001c0001t0006g0030 a0001c0001t0006g0065 a0001c0001t0006g0067 a0001c0001t0006g0076 a0001c0001t0006g0077 a0001c0001t0034g0074	9	394	0.0228	30	c.719 others(45): Show c.719+456_719+485dupGTCCTGGGTGGGGTGCGTGCTGGGTGGGGG	PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
PGAP3_chr17_39666122_39693057	39691556	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	376	0.0027	30	c.-35 others(41): Show c.-3543_-3542insATATATATATATATTTTTTTTTTTTTTTTT	PGAP3	ENSG00000161395.14	transcript	ENST00000300658.9	protein_coding		3500		chr17	TogoVar
PGAP3_chr17_39666122_39693057	39691556	A A	AAAAAAAA others(23): Show AAAAAAAAAAAATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	376	0.0027	30	c.-35 others(41): Show c.-3543_-3542insATATATATATATATATATATTTTTTTTTTT	PGAP3	ENSG00000161395.14	transcript	ENST00000300658.9	protein_coding		3500		chr17	TogoVar
PGAP4_chr9_101468170_101492173	101491822	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	460	0.0022	30	c.-49 others(41): Show c.-4952_-4951insGAATATATATATATATATATATATATATAT	PGAP4	ENSG00000165152.9	transcript	ENST00000374848.8	protein_coding		4650		chr9	TogoVar
PGGT1B_chr5_115199012_115267877	115207180	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01192.hp2 HG01070.hp1 HG01071.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0071 a0001c0001t0107 a0001c0001t0060 a0001c0001t0071 a0001c0001t0107	a0001c0001t0060g0109 a0001c0001t0071g0110 a0001c0001t0107g0197 a0001c0001t0060g0109 a0001c0001t0071g0110 a0001c0001t0107g0197	3	372	0.0081	30	c.52 others(41): Show c.5221_*5222insATATATATATATATATATATATATATATAT	PGGT1B	ENSG00000164219.10	transcript	ENST00000419445.6	protein_coding	9/9	5221		chr5	TogoVar
PGM2L1_chr11_74325316_74403433	74383820	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0285 a0002c0002t0004g0285	1	380	0.0026	30	c.112 others(47): Show c.112-9239_112-9238insATATATATATATATATATATATATATAT AT	PGM2L1	ENSG00000165434.8	transcript	ENST00000298198.5	protein_coding	1/13			chr11	TogoVar
PGM2L1_chr11_74325316_74403433	74383824	A A	AATAAATA others(23): Show AATAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0272 a0002c0002t0004g0272	1	380	0.0026	30	c.112 others(47): Show c.112-9243_112-9242insATATATATATATATATATATATATATTT AT	PGM2L1	ENSG00000165434.8	transcript	ENST00000298198.5	protein_coding	1/13			chr11	TogoVar
PGM2L1_chr11_74325316_74403433	74383824	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01884.hp2 HG01361.hp1 HG01884.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0001c0004 a0002c0002	a0001c0004t0015 a0002c0002t0053 a0001c0004t0015 a0002c0002t0053	a0001c0004t0015g0247 a0002c0002t0053g0253 a0001c0004t0015g0247 a0002c0002t0053g0253	2	380	0.0053	30	c.112 others(47): Show c.112-9243_112-9242insATATATATATATATATATATATATATAT AT	PGM2L1	ENSG00000165434.8	transcript	ENST00000298198.5	protein_coding	1/13			chr11	TogoVar
PGM2L1_chr11_74325316_74403433	74402388	C C	CATAATAT others(23): Show CATAATATATATAATATATATATTATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02647.hp2 HG02809.hp1 others(6): Show HG02622.hp2 HG02647.hp2 HG02809.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02976.hp2 HG03453.hp2 HG03579.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0334 a0001c0004t0009g0335 a0001c0004t0009g0336 others(6): Show a0001c0004t0009g0334 a0001c0004t0009g0335 a0001c0004t0009g0336 a0001c0004t0009g0337 a0001c0004t0009g0338 a0001c0004t0009g0339 a0001c0004t0009g0340 a0001c0004t0009g0341 a0001c0004t0009g0342	9	380	0.0237	30	c.-42 others(41): Show c.-4228_-4227insAATATATAATATATATATTATATATATTAT	PGM2L1	ENSG00000165434.8	transcript	ENST00000298198.5	protein_coding		3956		chr11	TogoVar
PGM2_chr4_37821686_37867937	37841072	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0318 a0001c0001t0001g0318	1	446	0.0022	30	c.719 others(45): Show c.719+842_719+843insATATATATATATATATATATATATATATAT	PGM2	ENSG00000169299.14	transcript	ENST00000381967.9	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
PGM5_chr9_68351611_68536061	68406676	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0018 a0001c0014t0018	a0001c0014t0018g0018 a0001c0014t0018g0018	1	246	0.0041	30	c.104 others(51): Show c.1043+14204_1043+14205insATATATATATATATATATATATAT ATGTGT	PGM5	ENSG00000154330.13	transcript	ENST00000396396.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PGPEP1_chr19_18335598_18374950	18364083	G G	GCTCTTTC others(23): Show GCTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0150 a0001c0001t0150	a0001c0001t0150g0011 a0001c0001t0150g0011	1	412	0.0024	30	c.50 others(39): Show c.502_*503insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	PGPEP1	ENSG00000130517.14	transcript	ENST00000269919.11	protein_coding	5/5	503	INFO_REALIGN_3_PRIME	chr19	TogoVar
PGPEP1_chr19_18335598_18374950	18364092	C C	CTTTCTTT others(23): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0263 a0001c0001t0263	a0001c0001t0263g0015 a0001c0001t0263g0015	1	412	0.0024	30	c.53 others(39): Show c.531_*532insTCTTTCTTTTTCTTTCTTTCTTTCTTTCTT	PGPEP1	ENSG00000130517.14	transcript	ENST00000269919.11	protein_coding	5/5	532	INFO_REALIGN_3_PRIME	chr19	TogoVar
PHACTR1_chr6_12711767_13292837	12921780	C C	CAGGGAGG others(23): Show CAGGGAGGGAAGGAAGAAGGAAGGGAGAGAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0067 a0001c0001t0007g0067	1	108	0.0093	30	c.251 others(51): Show c.251-131576_251-131575insAGGAAGAAGGAAGGGAGAGAAAGG GAGGGA	PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHACTR1_chr6_12711767_13292837	12921780	C C	CAGGGAGG others(23): Show CAGGGAGGGAGGGAAGAAGGAAGGGAGAGAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01109.hp1 HG01167.hp2 others(53): Show HG00735.hp2 HG01109.hp1 HG01167.hp2 HG01168.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01261.hp1 HG01361.hp2 HG01433.hp2 HG01993.hp2 HG02109.hp2 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02647.hp2 HG02717.hp2 HG02809.hp2 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03831.hp1 HG03831.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18955.hp1 NA18983.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0003t0004	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0011 others(53): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0015 a0001c0001t0002g0019 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0028 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0089 a0001c0001t0002g0091 a0001c0001t0003g0039 a0001c0001t0003g0041 a0001c0001t0003g0044 a0001c0001t0003g0048 a0001c0001t0003g0066 a0001c0001t0003g0098 a0001c0001t0005g0064 a0001c0001t0008g0106 a0001c0002t0001g0057 a0001c0002t0003g0087 a0001c0002t0004g0108 a0001c0003t0004g0105	56	108	0.5185	30	c.251 others(51): Show c.251-131559_251-131558insAGAAAGGGAGGGAGGGAAGAAGGA AGGGAG	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(23): Show ATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	108	0.0093	30	c.251 others(49): Show c.251-49401_251-49400insATATATATATATATATATATATATAT GTAT	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(23): Show ATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02055.hp2 HG02300.hp2 others(5): Show HG01192.hp2 HG02055.hp2 HG02300.hp2 HG02886.hp2 HG02896.hp1 HG03195.hp1 HG03225.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0083 a0001c0001t0001g0094 a0001c0001t0002g0005 others(5): Show a0001c0001t0001g0083 a0001c0001t0001g0094 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0012 a0001c0001t0002g0056 a0001c0001t0002g0093 a0001c0001t0003g0039	8	108	0.0741	30	c.251 others(49): Show c.251-49401_251-49400insATATATATATATATATATATATATAT ATGT	PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHACTR1_chr6_12711767_13292837	13003968	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	108	0.0093	30	c.251 others(49): Show c.251-49386_251-49385insTATATATATATATATATACATATATA TATA	PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHACTR1_chr6_12711767_13292837	13195757	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	108	0.0093	30	c.665 others(49): Show c.665-10035_665-10034insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHACTR1_chr6_12711767_13292837	13196422	T T	TTTTTTTT others(23): Show TTTTTTTTTGTTTTTTTTTGTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp1 HG02486.hp1 others(5): Show HG02258.hp1 HG02280.hp1 HG02486.hp1 HG02809.hp2 HG02896.hp2 HG02922.hp2 HG03492.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004	a0001c0001t0002g0072 a0001c0001t0003g0099 a0001c0002t0001g0013 others(5): Show a0001c0001t0002g0072 a0001c0001t0003g0099 a0001c0002t0001g0013 a0001c0002t0001g0031 a0001c0002t0001g0057 a0001c0002t0002g0026 a0001c0002t0003g0087 a0001c0002t0004g0108	8	108	0.0741	30	c.665 others(47): Show c.665-9385_665-9384insGTTTTTTTTTGTTTTTTTTTTGTTTTTT TT	PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHACTR3_chr20_59599540_59852711	59635194	C C	CTTTCTTT others(23): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00621.hp1 others(20): Show HG00140.hp1 HG00408.hp1 HG00621.hp1 HG01081.hp1 HG01106.hp2 HG01192.hp1 HG01981.hp2 HG01993.hp2 HG02148.hp2 HG02572.hp2 HG02647.hp2 HG02895.hp2 HG03471.hp1 HG03486.hp2 HG03688.hp1 HG03831.hp2 NA18971.hp2 NA18986.hp1 NA18988.hp1 NA18993.hp2 NA19002.hp2 NA19012.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008	a0001c0001t0001g0084 a0001c0001t0001g0093 a0001c0001t0001g0123 others(20): Show a0001c0001t0001g0084 a0001c0001t0001g0093 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0001g0203 a0001c0001t0001g0239 a0001c0001t0002g0071 a0001c0001t0002g0246 a0001c0001t0003g0086 a0001c0001t0003g0092 a0001c0001t0003g0110 a0001c0001t0003g0122 a0001c0001t0004g0041 a0001c0001t0004g0083 a0001c0001t0004g0180 a0001c0001t0004g0186 a0001c0001t0004g0197 a0001c0001t0005g0060 a0001c0001t0008g0158	23	250	0.0920	30	c.118 others(49): Show c.118+30063_118+30064insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTT	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHACTR3_chr20_59599540_59852711	59668870	T T	TTTTTATT others(23): Show TTTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	250	0.0040	30	c.118 others(49): Show c.118+63758_118+63787dupATTTTATTTTATTTTATTTTATTTTA TTTT	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHC2_chr1_33318626_33436095	33356273	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATACG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02074.hp1 HG02698.hp2 others(2): Show HG00558.hp2 HG02074.hp1 HG02698.hp2 HG03490.hp2 NA19085.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0028 a0002c0004t0004g0053 a0002c0004t0004g0054 others(2): Show a0002c0004t0004g0028 a0002c0004t0004g0053 a0002c0004t0004g0054 a0002c0004t0004g0063 a0002c0004t0004g0066	5	370	0.0135	30	c.977 others(47): Show c.977-1021_977-1020insCGTATATATATATATATATATATATATA TA	PHC2	ENSG00000134686.21	transcript	ENST00000683057.1	protein_coding	7/14			chr1	TogoVar
PHETA1_chr12_111355679_111374095	111358247	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02559.hp2 HG02055.hp2 HG02559.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0006 a0005c0005t0003 a0001c0001t0006 a0005c0005t0003	a0001c0001t0006g0013 a0005c0005t0003g0035 a0001c0001t0006g0013 a0005c0005t0003g0035	2	380	0.0053	30	c.44 others(41): Show c.4430_*4431insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PHETA1	ENSG00000198324.14	transcript	ENST00000683047.1	protein_coding		2431		chr12	TogoVar
PHEX_chrX_22027325_22256310	22249455	A A	AAAAAATA others(23): Show AAAAAATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0152 a0001c0001t0152	a0001c0001t0152g0018 a0001c0001t0152g0018	1	231	0.0043	30	c.15 others(41): Show c.1503_*1504insAAAATATATATATATATATATATATATATA	PHEX	ENSG00000102174.10	transcript	ENST00000379374.5	protein_coding	22/22	1504	INFO_REALIGN_3_PRIME	chrX	TogoVar
PHF14_chr7_10968872_11174618	10985636	C C	CCGGTTTT others(23): Show CCGGTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	298	0.0034	30	c.900 others(47): Show c.900+2477_900+2478insCGGTTTTTTTTTTTTTTTTTTTTTTTTT TT	PHF14	ENSG00000106443.17	transcript	ENST00000634607.2	protein_coding	3/17			chr7	TogoVar
PHF14_chr7_10968872_11174618	11122331	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	298	0.0034	30	c.277 others(51): Show c.2772+10886_2772+10887insTATATATATATATATATATATATA TATATA	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(23): Show TATATATATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	298	0.0034	30	c.277 others(51): Show c.2772+10886_2772+10887insTATATATATATATATATATACACA CACACA	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(23): Show TATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03486.hp1 HG02055.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0294 a0001c0001t0001g0289 a0001c0001t0001g0294	2	298	0.0067	30	c.277 others(51): Show c.2772+10886_2772+10887insTATATATATATATATATATATATA CACACA	PHF14	ENSG00000106443.17	transcript	ENST00000634607.2	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
PHF14_chr7_10968872_11174618	11122410	C C	CACGTATA others(23): Show CACGTATATATATATACACGTATATATATAT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	298	0.0034	30	c.277 others(51): Show c.2772+10959_2772+10988dupCACGTATATATATATACGTATATA TATATA	PHF14	ENSG00000106443.17	transcript	ENST00000634607.2	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
PHF20_chr20_35767015_35955370	35903048	G G	GTTTCCTT others(23): Show GTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0158 a0001c0001t0002g0158	1	206	0.0049	30	c.156 others(49): Show c.1561+3421_1561+3422insTTCCTTTCCTTTCCTTTCCTTTCCTT TCCT	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(23): Show CTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	280	0.0036	30	c.361 others(45): Show c.361-524_361-523insAAAAAAAAAAAAAAAAAAAAAAAAAAGAAA	PHF21A	ENSG00000135365.17	transcript	ENST00000676320.1	protein_coding	7/18			chr11	TogoVar
PHF21A_chr11_45924319_46126454	45975377	T T	TAAAATAA others(23): Show TAAAATAAAATAAAATAAAATAAAATAAAAC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0097 a0001c0001t0018g0097	1	280	0.0036	30	c.361 others(47): Show c.361-4011_361-4010insGTTTTATTTTATTTTATTTTATTTTATT TT	PHF21A	ENSG00000135365.17	transcript	ENST00000676320.1	protein_coding	7/18			chr11	TogoVar
PHLDB2_chr3_111854265_111981517	111866014	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02257.hp1 HG02735.hp1 others(1): Show HG00621.hp1 HG02257.hp1 HG02735.hp1 HG03209.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0006 a0001c0001 a0002c0002 a0003c0006	a0001c0001t0001 a0002c0002t0001 a0003c0006t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0003c0006t0001 a0003c0006t0004	a0001c0001t0001g0195 a0002c0002t0001g0193 a0003c0006t0001g0192 others(1): Show a0001c0001t0001g0195 a0002c0002t0001g0193 a0003c0006t0001g0192 a0003c0006t0004g0194	4	286	0.0140	30	c.-15 others(47): Show c.-15+6462_-15+6463insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	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(23): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02056.hp1 HG02735.hp2 HG01891.hp1 HG02056.hp1 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0018 a0001c0001t0002g0068 a0001c0001t0002g0014 a0001c0001t0002g0018 a0001c0001t0002g0068	3	396	0.0076	30	c.115 others(47): Show c.1150-469_1150-468insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	PHLDB3	ENSG00000176531.11	transcript	ENST00000292140.10	protein_coding	9/15			chr19	TogoVar
PHLPP1_chr18_62710541_62985433	62766072	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0171 a0001c0002t0001g0171	1	192	0.0052	30	c.157 others(51): Show c.1576+48814_1576+48815insTATATATATATATATATATATATA TATATA	PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr18	TogoVar
PHLPP1_chr18_62710541_62985433	62766074	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0166 a0001c0002t0001g0166	1	192	0.0052	30	c.157 others(51): Show c.1576+48816_1576+48817insTATATATATATATATATATATATA TATATA	PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr18	TogoVar
PHLPP1_chr18_62710541_62985433	62766076	A A	AAAAAAAA others(23): Show AAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0072 a0001c0002t0001g0072	1	192	0.0052	30	c.157 others(51): Show c.1576+48818_1576+48819insAAAAAAAATATATATATATATATA TATATA	PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr18	TogoVar
PHLPP1_chr18_62710541_62985433	62766076	A A	AAAAAAAA others(23): Show AAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	192	0.0052	30	c.157 others(51): Show c.1576+48818_1576+48819insAAAAAATATATATATATATATATA TATATA	PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr18	TogoVar
PHLPP1_chr18_62710541_62985433	62766076	A A	AAAAAATA others(23): Show AAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0007	1	192	0.0052	30	c.157 others(51): Show c.1576+48818_1576+48819insAAAATATATATATATATATATATA TATATA	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(23): Show AAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02896.hp2 HG02738.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0047 a0001c0001t0010g0097 a0001c0001t0001g0047 a0001c0001t0010g0097	2	192	0.0104	30	c.157 others(51): Show c.1576+48818_1576+48819insAATATATATATATATATATATATA TATATA	PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr18	TogoVar
PHLPP1_chr18_62710541_62985433	62849826	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	192	0.0052	30	c.190 others(51): Show c.1900-10608_1900-10607insTATATATATATATATATATATATA TATATA	PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr18	TogoVar
PHLPP1_chr18_62710541_62985433	62849828	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA18964.hp2 HG06807.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0027 a0001c0001t0003g0091 a0001c0001t0001g0027 a0001c0001t0003g0091	2	192	0.0104	30	c.190 others(51): Show c.1900-10606_1900-10605insTATATATATATATATATATATATA TATATA	PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr18	TogoVar
PHLPP1_chr18_62710541_62985433	62849830	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01884.hp2 HG01081.hp1 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0087 a0001c0001t0002g0158 a0001c0001t0001g0087 a0001c0001t0002g0158	2	192	0.0104	30	c.190 others(51): Show c.1900-10604_1900-10603insTATATATATATATATATATATATA TATATA	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(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA20300.hp1 HG03453.hp1 NA20300.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0013c0011 a0001c0001 a0013c0011	a0001c0001t0002 a0013c0011t0007 a0001c0001t0002 a0013c0011t0007	a0001c0001t0002g0102 a0013c0011t0007g0053 a0001c0001t0002g0102 a0013c0011t0007g0053	2	192	0.0104	30	c.190 others(51): Show c.1900-10593_1900-10592insATATATATATATATATATATATAT ATATAT	PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr18	TogoVar
PHLPP2_chr16_71639924_71729701	71670695	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02818.hp2 HG03540.hp2 HG02630.hp1 HG02818.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0016 a0001c0001t0005 a0001c0001t0016	a0001c0001t0005g0120 a0001c0001t0005g0128 a0001c0001t0016g0123 a0001c0001t0005g0120 a0001c0001t0005g0128 a0001c0001t0016g0123	3	324	0.0093	30	c.153 others(49): Show c.1533-1326_1533-1325insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	PHLPP2	ENSG00000040199.18	transcript	ENST00000568954.5	protein_coding	10/18			chr16	TogoVar
PHRF1_chr11_571470_617222	613610	A A	AGCTGTGA others(23): Show AGCTGTGAGTGACGGGGGTGGGCGGGGACAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0166 a0002c0011t0001g0166	1	279	0.0036	30	c.18 others(41): Show c.1833_*1834insGCTGTGAGTGACGGGGGTGGGCGGGGACAG	PHRF1	ENSG00000070047.13	transcript	ENST00000264555.10	protein_coding		1389		chr11	TogoVar
PHYKPL_chr5_178203471_178237802	178203504	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	440	0.0023	30	c.54 others(41): Show c.5442_*5443insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PHYKPL	ENSG00000175309.15	transcript	ENST00000308158.10	protein_coding		4966		chr5	TogoVar
PI4K2A_chr10_97635671_97681434	97642865	T T	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0339 a0001c0003t0003g0339	1	350	0.0029	30	c.435 others(47): Show c.435+1689_435+1690insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CT	PI4K2A	ENSG00000155252.14	transcript	ENST00000370631.4	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
PI4K2A_chr10_97635671_97681434	97642887	T T	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0327 a0001c0002t0008g0327	1	350	0.0029	30	c.435 others(47): Show c.435+1710_435+1711insTCTTTCTTTCTTTCTTTCTCTCTCTCTC TC	PI4K2A	ENSG00000155252.14	transcript	ENST00000370631.4	protein_coding	1/8			chr10	TogoVar

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