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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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
PGPEP1_chr19_18335598_18374950	18338732	T T	TAAAAAAA others(24): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG03195.hp1 HG01891.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0214 a0001c0001t0261 a0001c0001t0214 a0001c0001t0261	a0001c0001t0214g0003 a0001c0001t0261g0306 a0001c0001t0214g0003 a0001c0001t0261g0306	2	412	0.0049	31	c.-19 others(42): Show c.-1950_-1949insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PGPEP1	ENSG00000130517.14	transcript	ENST00000269919.11	protein_coding		1865		chr19	TogoVar
PHACTR1_chr6_12711767_13292837	13195757	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01496.hp1 HG01255.hp2 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0079 a0001c0001t0003g0086 a0001c0001t0002g0079 a0001c0001t0003g0086	2	108	0.0185	31	c.665 others(50): Show c.665-10035_665-10034insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHACTR1_chr6_12711767_13292837	13196421	T T	TTTTTTTT others(24): Show TTTTTTTTTTGTTTTTTTTTGTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0095 a0001c0002t0003g0095	1	108	0.0093	31	c.665 others(48): Show c.665-9385_665-9384insGTTTTTTTTTGTTTTTTTTTTGTTTTTT TTT	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(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02965.hp2 NA19043.hp2 HG02922.hp1 HG02965.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0003 a0001c0001t0012	a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0012g0006 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0012g0006	3	250	0.0120	31	c.118 others(50): Show c.118+17869_118+17870insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHACTR3_chr20_59599540_59852711	59635126	T T	TCTTTCTT others(24): Show TCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	250	0.0040	31	c.118 others(50): Show c.118+30010_118+30011insTTCTTTCTTTCTTTCCTTTCTTTCTT TCTTT	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHACTR3_chr20_59599540_59852711	59674709	C C	CCCCTTCT others(24): Show CCCCTTCTGCTGTTCCCCCTTCTCCTGTTCTG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp2 HG00621.hp2 others(35): Show HG00408.hp2 HG00597.hp2 HG00621.hp2 HG00741.hp1 HG01175.hp2 HG01243.hp1 HG01257.hp2 HG01258.hp1 HG01884.hp2 HG01928.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02071.hp2 HG02109.hp1 HG02486.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG02965.hp1 HG03195.hp2 HG03209.hp2 HG03471.hp2 HG03669.hp1 HG06807.hp1 NA18612.hp2 NA18948.hp2 NA18993.hp2 NA18994.hp1 NA19043.hp2 NA19084.hp1 NA19090.hp2 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0014 a0001c0001t0017 a0003c0004t0001	a0001c0001t0001g0008 a0001c0001t0001g0026 a0001c0001t0001g0050 others(35): Show a0001c0001t0001g0008 a0001c0001t0001g0026 a0001c0001t0001g0050 a0001c0001t0001g0062 a0001c0001t0001g0081 a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0147 a0001c0001t0001g0152 a0001c0001t0001g0162 a0001c0001t0001g0182 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0002g0212 a0001c0001t0002g0218 a0001c0001t0003g0044 a0001c0001t0003g0091 a0001c0001t0003g0122 a0001c0001t0003g0128 a0001c0001t0003g0130 a0001c0001t0004g0004 a0001c0001t0004g0083 a0001c0001t0004g0097 a0001c0001t0004g0199 a0001c0001t0006g0022 a0001c0001t0006g0067 a0001c0001t0014g0208 a0001c0001t0017g0046 a0003c0004t0001g0096	38	250	0.1520	31	c.119 others(50): Show c.119-68391_119-68390insGCTGTTCCCCCTTCTCCTGTTCTGCC CTTCT	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHF12_chr17_28900250_28956518	28923653	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA18955.hp1 NA18957.hp2 HG02630.hp2 NA18955.hp1 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0152 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0152	3	232	0.0129	31	c.715 others(46): Show c.715+255_715+256insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	PHF12	ENSG00000109118.14	transcript	ENST00000332830.9	protein_coding	4/14			chr17	TogoVar
PHF20_chr20_35767015_35955370	35793995	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0179 a0001c0001t0007g0179	1	206	0.0049	31	c.-32 others(48): Show c.-32-7474_-32-7473insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	PHF20	ENSG00000025293.17	transcript	ENST00000374012.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHF20_chr20_35767015_35955370	35903077	C C	CCTTTCCT others(24): Show CCTTTCCTTTCCTTTCCTTTCCTATCCTTTCT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01517.hp1 HG03490.hp2 others(12): Show HG01074.hp1 HG01517.hp1 HG03490.hp2 HG03491.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG04115.hp2 HG04199.hp2 HG04228.hp1 NA18747.hp1 NA18943.hp1 NA18952.hp2 NA18966.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0156 a0001c0001t0002g0159 a0001c0001t0002g0161 others(12): Show a0001c0001t0002g0156 a0001c0001t0002g0159 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0185 a0001c0001t0002g0202	15	206	0.0728	31	c.156 others(50): Show c.1561+3429_1561+3430insCTTTCCTTTCCTTTCCTTTCCTATCC TTTCT	PHF20	ENSG00000025293.17	transcript	ENST00000374012.8	protein_coding	10/17			chr20	TogoVar
PHF20_chr20_35767015_35955370	35904767	C C	CTCCTCCT others(24): Show CTCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01071.hp2 HG02040.hp2 others(11): Show HG00597.hp2 HG01071.hp2 HG02040.hp2 HG02109.hp2 HG02486.hp2 HG02559.hp1 HG02622.hp1 HG02723.hp1 HG04115.hp1 NA18943.hp1 NA18950.hp1 NA18966.hp1 NA19058.hp1 NA19077.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0002 a0001c0001t0021 a0001c0004t0022 others(1): Show a0001c0001t0002 a0001c0001t0021 a0001c0004t0022 a0002c0002t0003	a0001c0001t0002g0152 a0001c0001t0002g0166 a0001c0001t0002g0176 others(11): Show a0001c0001t0002g0152 a0001c0001t0002g0166 a0001c0001t0002g0176 a0001c0001t0002g0185 a0001c0001t0021g0201 a0001c0004t0022g0183 a0002c0002t0003g0115 a0002c0002t0003g0122 a0002c0002t0003g0128 a0002c0002t0003g0129 a0002c0002t0003g0133 a0002c0002t0003g0137 a0002c0002t0003g0138 a0002c0002t0003g0139	14	206	0.0680	31	c.156 others(50): Show c.1561+5123_1561+5124insCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCT	PHF20	ENSG00000025293.17	transcript	ENST00000374012.8	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHF21A_chr11_45924319_46126454	45958419	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	280	0.0036	31	c.997 others(48): Show c.997-4795_997-4794insATATATATATATATATATATTTTTTTTT TTT	PHF21A	ENSG00000135365.17	transcript	ENST00000676320.1	protein_coding	10/18			chr11	TogoVar
PHF24_chr9_34953285_34987544	34986774	A A	ACCCCCCC others(24): Show ACCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0148 a0001c0001t0004g0148	1	450	0.0022	31	c.86 others(42): Show c.8663_*8664insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	PHF24	ENSG00000122733.12	transcript	ENST00000242315.4	protein_coding		4231		chr9	TogoVar
PHF2_chr9_93571584_93684587	93612222	T T	TGCAGTGA others(24): Show TGCAGTGAATACACATGATCCACGTATCTATG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0181 a0002c0002t0004g0181	1	350	0.0029	31	c.99- others(48): Show c.99-17746_99-17716dupCAGTGAATACACATGATCCACGTATCTA TGG	PHF2	ENSG00000197724.12	transcript	ENST00000359246.9	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
PHF3_chr6_63630802_63731011	63727735	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0121 a0001c0001t0015g0121	1	320	0.0031	31	c.14 others(44): Show c.14027_*14028insTATATATATATATATATATATATATATATAT	PHF3	ENSG00000118482.12	transcript	ENST00000262043.8	protein_coding		1725		chr6	TogoVar
PHF3_chr6_63630802_63731011	63727737	A A	AAATATAT others(24): Show AAATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0009 a0009	a0009c0017 a0009c0017	a0009c0017t0085 a0009c0017t0085	a0009c0017t0085g0114 a0009c0017t0085g0114	1	320	0.0031	31	c.14 others(44): Show c.14029_*14030insAATATATATATATATATATATATATATATAT	PHF3	ENSG00000118482.12	transcript	ENST00000262043.8	protein_coding		1727		chr6	TogoVar
PHLDB2_chr3_111854265_111981517	111866014	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA18941.hp2 HG03098.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0004 a0001c0004t0011 a0001c0001t0004 a0001c0004t0011	a0001c0001t0004g0196 a0001c0004t0011g0197 a0001c0001t0004g0196 a0001c0004t0011g0197	2	286	0.0070	31	c.-15 others(48): Show c.-15+6462_-15+6463insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	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(24): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0074	1	396	0.0025	31	c.115 others(48): Show c.1150-469_1150-468insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	PHLDB3	ENSG00000176531.11	transcript	ENST00000292140.10	protein_coding	9/15			chr19	TogoVar
PHLPP1_chr18_62710541_62985433	62766076	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0013 a0010c0012t0013	a0010c0012t0013g0074 a0010c0012t0013g0074	1	192	0.0052	31	c.157 others(52): Show c.1576+48818_1576+48819insAAAAAAAAAAAAATATATATATAT ATATATA	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(24): Show AAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	192	0.0052	31	c.157 others(52): Show c.1576+48818_1576+48819insAAAAAAATATATATATATATATAT ATATATA	PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr18	TogoVar
PHLPP1_chr18_62710541_62985433	62766076	A A	AAAAATAT others(24): Show AAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01168.hp2 HG00735.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0092 a0001c0001t0001g0026 a0001c0001t0001g0092	2	192	0.0104	31	c.157 others(52): Show c.1576+48818_1576+48819insAAATATATATATATATATATATAT ATATATA	PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr18	TogoVar
PHLPP1_chr18_62710541_62985433	62766076	A A	AAATATAT others(24): Show AAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02976.hp1 HG03130.hp2 HG02165.hp2 HG02976.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0029 a0001c0002t0001g0114 a0001c0002t0001g0140 a0001c0001t0001g0029 a0001c0002t0001g0114 a0001c0002t0001g0140	3	192	0.0156	31	c.157 others(52): Show c.1576+48818_1576+48819insATATATATATATATATATATATAT ATATATA	PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr18	TogoVar
PHLPP1_chr18_62710541_62985433	62766076	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03098.hp1 HG06807.hp1 HG02622.hp1 HG03098.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0137 a0001c0001t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0137	3	192	0.0156	31	c.157 others(52): Show c.1576+48817_1576+48818insTATATATATATATATATATATATA TATATAT	PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	1/16			chr18	TogoVar
PHLPP1_chr18_62710541_62985433	62849828	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02071.hp2 HG02165.hp2 HG01975.hp2 HG02071.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0029 a0001c0001t0001g0116 a0001c0001t0001g0014 a0001c0001t0001g0029 a0001c0001t0001g0116	3	192	0.0156	31	c.190 others(52): Show c.1900-10607_1900-10606insTATATATATATATATATATATATA TATATAT	PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	3/16			chr18	TogoVar
PHLPP1_chr18_62710541_62985433	62849830	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	192	0.0052	31	c.190 others(52): Show c.1900-10605_1900-10604insTATATATATATATATATATATATA TATATAT	PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	3/16			chr18	TogoVar
PHLPP1_chr18_62710541_62985433	62849832	A A	AAATATAT others(24): Show AAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0097 a0001c0001t0010g0099 a0001c0001t0010g0097 a0001c0001t0010g0099	2	192	0.0104	31	c.190 others(52): Show c.1900-10602_1900-10601insATATATATATATATATATATATAT ATATATA	PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr18	TogoVar
PHLPP1_chr18_62710541_62985433	62849832	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	192	0.0052	31	c.190 others(52): Show c.1900-10603_1900-10602insTATATATATATATATATATATATA TATATAT	PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	3/16			chr18	TogoVar
PHLPP1_chr18_62710541_62985433	62918429	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0004 a0004	a0004c0024 a0004c0024	a0004c0024t0019 a0004c0024t0019	a0004c0024t0019g0060 a0004c0024t0019g0060	1	192	0.0052	31	c.280 others(50): Show c.2805-1530_2805-1529insTATATATATATATATATATATATATA TATAT	PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	9/16			chr18	TogoVar
PHLPP2_chr16_71639924_71729701	71719964	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0279 a0001c0001t0004g0279	1	324	0.0031	31	c.-7+ others(46): Show c.-7+4364_-7+4365insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	PHLPP2	ENSG00000040199.18	transcript	ENST00000568954.5	protein_coding	1/18			chr16	TogoVar
PHOSPHO1_chr17_49218366_49235787	49232385	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	420	0.0024	31	c.-19 others(42): Show c.-1986_-1985insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PHOSPHO1	ENSG00000173868.12	transcript	ENST00000310544.9	protein_coding		1599		chr17	TogoVar
PHYKPL_chr5_178203471_178237802	178203504	T T	TAAAAAAA others(24): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0318 a0001c0001t0002g0318	1	440	0.0023	31	c.54 others(42): Show c.5442_*5443insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PHYKPL	ENSG00000175309.15	transcript	ENST00000308158.10	protein_coding		4966		chr5	TogoVar
PI4KA_chr22_20702691_20863811	20780775	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0025 a0001c0003t0003g0025	1	334	0.0030	31	c.232 others(52): Show c.2328+12417_2328+12418insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	PI4KA	ENSG00000241973.11	transcript	ENST00000255882.11	protein_coding	19/54			chr22	TogoVar
PIAS2_chr18_46798218_46922507	46807383	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0249 a0001c0001t0036g0249	1	322	0.0031	31	c.50 others(42): Show c.5049_*5050insAAAAAAATATATATATATATATATATATATA	PIAS2	ENSG00000078043.16	transcript	ENST00000585916.6	protein_coding	14/14	5049		chr18	TogoVar
PIAS2_chr18_46798218_46922507	46807383	A A	ATATATAT others(24): Show ATATATATATATATATATATATATTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0174 a0001c0001t0174	a0001c0001t0174g0006 a0001c0001t0174g0006	1	322	0.0031	31	c.50 others(42): Show c.5049_*5050insAAAAAAAAATATATATATATATATATATATA	PIAS2	ENSG00000078043.16	transcript	ENST00000585916.6	protein_coding	14/14	5049		chr18	TogoVar
PIBF1_chr13_72777133_73021461	72844752	C C	CACACACA others(24): Show CACACACACACACGGATGAAGTCTTACTGTTT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02280.hp1 HG02523.hp1 others(4): Show HG02165.hp2 HG02280.hp1 HG02523.hp1 HG02630.hp1 NA18964.hp1 NA19003.hp1 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0013 a0002c0002t0003g0014 a0002c0002t0003g0022 others(4): Show a0002c0002t0003g0013 a0002c0002t0003g0014 a0002c0002t0003g0022 a0002c0002t0003g0024 a0002c0002t0003g0030 a0002c0002t0003g0053 a0002c0002t0003g0060	7	346	0.0202	31	c.122 others(50): Show c.1224-9293_1224-9292insGGATGAAGTCTTACTGTTTACACACA CACAC	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIBF1_chr13_72777133_73021461	72844754	C C	CACACACA others(24): Show CACACACACACACGGATGAAGTCTTACTGTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0314 a0002c0002t0003g0314	1	346	0.0029	31	c.122 others(50): Show c.1224-9291_1224-9290insGGATGAAGTCTTACTGTTTACACACA CACAC	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIBF1_chr13_72777133_73021461	72904433	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01496.hp1 HG02040.hp2 others(8): Show HG00558.hp2 HG01496.hp1 HG02040.hp2 HG02165.hp1 HG02300.hp1 HG02572.hp2 HG02615.hp1 HG04184.hp1 NA18977.hp2 NA19000.hp1 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0091 a0001c0001t0001g0137 a0001c0001t0001g0202 others(8): Show a0001c0001t0001g0091 a0001c0001t0001g0137 a0001c0001t0001g0202 a0001c0001t0001g0310 a0001c0001t0001g0321 a0001c0001t0002g0117 a0001c0001t0002g0149 a0001c0001t0002g0156 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0173	11	346	0.0318	31	c.148 others(50): Show c.1489-4073_1489-4072insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIBF1_chr13_72777133_73021461	72912911	G G	GGTATGAT others(24): Show GGTATGATTATACTATATGATTATAGTATATA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG04204.hp1 HG03654.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0290 a0001c0001t0001g0291	2	346	0.0058	31	c.164 others(50): Show c.1640-4151_1640-4121dupATATGATTATAGTATATAGTATGATT ATACT	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIBF1_chr13_72777133_73021461	72912925	A A	ATATGATT others(24): Show ATATGATTATAGTATATAGTATGATTATACTG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0210 a0002c0002t0002g0210	1	346	0.0029	31	c.164 others(50): Show c.1640-4120_1640-4090dupGTATGATTATAGTATATAGTATGATT ATACT	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PID1_chr2_229018973_229276287	229114119	C C	CTCTCTCT others(24): Show CTCTCTCTCTCTCTTTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0014 a0001c0001t0003g0014	1	256	0.0039	31	c.177 others(50): Show c.177+41698_177+41699insAGAGAGAGAGAGAGAGAAAGAGAGAG AGAGA	PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	2/2			chr2	TogoVar
PID1_chr2_229018973_229276287	229134231	G G	GTTTTTTT others(24): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA18951.hp1 NA18960.hp2 HG02015.hp1 NA18951.hp1 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0165 a0001c0001t0001g0237 a0001c0001t0003g0145 a0001c0001t0001g0165 a0001c0001t0001g0237 a0001c0001t0003g0145	3	256	0.0117	31	c.177 others(50): Show c.177+21586_177+21587insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	2/2			chr2	TogoVar
PIGR_chr1_206923522_206951466	206924438	A A	AGTGTGTG others(24): Show AGTGTGTGAATGTGTGGTGTGTGGCTATGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 NA19072.hp1 NA20129.hp1 HG02615.hp2 NA19072.hp1 NA20129.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0002c0002t0002 a0004c0004t0004 a0001c0001t0001 a0002c0002t0002 a0004c0004t0004	a0001c0001t0001g0001 a0002c0002t0002g0094 a0004c0004t0004g0006 a0001c0001t0001g0001 a0002c0002t0002g0094 a0004c0004t0004g0006	3	402	0.0075	31	c.58 others(42): Show c.5879_*5880insACTCATAGCCACACACCACACATTCACACAC	PIGR	ENSG00000162896.6	transcript	ENST00000356495.5	protein_coding		4083		chr1	TogoVar
PIH1D2_chr11_112062798_112079017	112067685	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG02630.hp2 HG03195.hp1 HG00140.hp2 HG02630.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0027 a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0027	3	384	0.0078	31	c.18 others(40): Show c.185_*186insATATATATATATATATATTTTTTTTTTTTTT	PIH1D2	ENSG00000150773.12	transcript	ENST00000280350.10	protein_coding		112		chr11	TogoVar
PIH1D2_chr11_112062798_112079017	112067685	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp2 HG02135.hp2 NA19081.hp2 others(1): Show HG01981.hp2 HG02135.hp2 NA19081.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007	4	384	0.0104	31	c.18 others(40): Show c.185_*186insATATATATATATATATATATTTTTTTTTTTT	PIH1D2	ENSG00000150773.12	transcript	ENST00000280350.10	protein_coding		112		chr11	TogoVar
PIH1D2_chr11_112062798_112079017	112067685	A A	AAAAAAAA others(24): Show AAAAAAAAAAATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03831.hp1 NA18612.hp2 others(1): Show HG03041.hp2 HG03831.hp1 NA18612.hp2 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0032 a0001c0001t0001g0033 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0104	4	384	0.0104	31	c.18 others(40): Show c.185_*186insATATATATATATATATATATATTTTTTTTTT	PIH1D2	ENSG00000150773.12	transcript	ENST00000280350.10	protein_coding		112		chr11	TogoVar
PIH1D2_chr11_112062798_112079017	112067685	A A	AAAAAAAA others(24): Show AAAAAAAAATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	384	0.0026	31	c.18 others(40): Show c.185_*186insATATATATATATATATATATATATTTTTTTT	PIH1D2	ENSG00000150773.12	transcript	ENST00000280350.10	protein_coding		112		chr11	TogoVar
PIH1D2_chr11_112062798_112079017	112067685	A A	AAAAAAAT others(24): Show AAAAAAATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	384	0.0026	31	c.18 others(40): Show c.185_*186insATATATATATATATATATATATATATTTTTT	PIH1D2	ENSG00000150773.12	transcript	ENST00000280350.10	protein_coding		112		chr11	TogoVar
PIP5K1A_chr1_151193552_151254531	151251260	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	334	0.0030	31	c.33 others(42): Show c.3395_*3396insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PIP5K1A	ENSG00000143398.20	transcript	ENST00000368888.9	protein_coding		1730		chr1	TogoVar
PIP5K1B_chr9_68700240_69014176	68925795	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG03471.hp2 others(2): Show HG02895.hp1 HG02897.hp2 HG03471.hp2 NA18963.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0086 a0001c0001t0001g0089 others(2): Show a0001c0001t0001g0030 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0109	5	220	0.0227	31	c.120 others(50): Show c.1201+2429_1201+2430insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	PIP5K1B	ENSG00000107242.20	transcript	ENST00000265382.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
PITPNC1_chr17_67372281_67702256	67522659	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0022 a0001c0001t0003g0022	1	218	0.0046	31	c.49- others(48): Show c.49-10129_49-10128insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67688338	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02004.hp1 NA18953.hp1 others(4): Show HG01361.hp1 HG02004.hp1 NA18953.hp1 NA18971.hp2 NA18982.hp1 NA18983.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0100 a0001c0001t0001g0113 a0001c0001t0001g0134 others(4): Show a0001c0001t0001g0100 a0001c0001t0001g0113 a0001c0001t0001g0134 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0003g0030 a0001c0001t0003g0038	7	218	0.0321	31	c.683 others(48): Show c.683-4221_683-4220insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr17	TogoVar

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