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
PIK3R1_chr5_68210756_68306821	68262457	T T	TATATATC others(31): Show TATATATCTATATATGTACATATATATCTATATGTATAC	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0087 a0002c0004t0087	a0002c0004t0087g0150 a0002c0004t0087g0150	1	308	0.0033	38	c.335 others(57): Show c.335-10915_335-10878dupCATATATATCTATATGTATACATATA TCTATATATGTA	PIK3R1	ENSG00000145675.16	transcript	ENST00000521381.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
PIK3R1_chr5_68210756_68306821	68262808	T T	TAGATGCA others(31): Show TAGATGCATGTAGATACATGTATACATATATACATGTAG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0106 a0001c0001t0106	a0001c0001t0106g0022 a0001c0001t0106g0022	1	308	0.0033	38	c.335 others(57): Show c.335-10581_335-10580insGATGCATGTAGATACATGTATACATA TATACATGTAGA	PIK3R1	ENSG00000145675.16	transcript	ENST00000521381.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
PIK3R3_chr1_46035140_46137629	46071730	T T	TATATATA others(31): Show TATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0012 a0001c0003t0015g0012	1	318	0.0031	38	c.315 others(55): Show c.315-4640_315-4639insCTCTCTCTCTCTCTCTCTCTCTCTCTCT ATATATATAT	PIK3R3	ENSG00000117461.15	transcript	ENST00000262741.10	protein_coding	3/9			chr1	TogoVar
PIK3R3_chr1_46035140_46137629	46071730	T T	TATATATA others(31): Show TATATATATATATATATAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0018 a0001c0001t0005g0018	1	318	0.0031	38	c.315 others(55): Show c.315-4640_315-4639insCTCTCTCTCTCTCTCTCTCTCTATATAT ATATATATAT	PIK3R3	ENSG00000117461.15	transcript	ENST00000262741.10	protein_coding	3/9			chr1	TogoVar
PINK1_chr1_20628458_20656511	20638544	A A	AAGTGGGA others(31): Show AAGTGGGAGGATCACTTGAGTGCAAGAGGCAGAGGCTGC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02895.hp1 HG03195.hp2 others(1): Show HG02622.hp2 HG02895.hp1 HG03195.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0031 a0001c0001t0009g0202 a0001c0001t0009g0031 a0001c0001t0009g0202	4	458	0.0087	38	c.675 others(53): Show c.675+420_675+457dupGGAGGATCACTTGAGTGCAAGAGGCAGAGG CTGCAGTG	PINK1	ENSG00000158828.8	transcript	ENST00000321556.5	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
PITPNC1_chr17_67372281_67702256	67494185	T T	TTCTTTCT others(31): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01192.hp1 HG02738.hp2 HG00741.hp2 HG01192.hp1 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0160 a0001c0001t0001g0195 a0001c0001t0003g0021 a0001c0001t0001g0160 a0001c0001t0001g0195 a0001c0001t0003g0021	3	218	0.0138	38	c.49- others(55): Show c.49-38616_49-38615insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCT	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(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00673.hp2 HG00099.hp1 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0190 a0001c0001t0003g0022 a0001c0001t0002g0190 a0001c0001t0003g0022	2	218	0.0092	38	c.683 others(55): Show c.683-4221_683-4220insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6491836	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0174 a0001c0003t0001g0174	1	218	0.0046	38	c.275 others(55): Show c.275-7545_275-7544insTTATATATATATATATATATATATATAT ATATATATAT	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	4/19			chr17	TogoVar
PIWIL3_chr22_24714034_24779720	24757661	C C	CACACACA others(31): Show CACACACACACACACATATATATAAAATATGTATATATT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0186 a0001c0020t0001g0186	1	386	0.0026	38	c.355 others(53): Show c.355+246_355+247insAATATATACATATTTTATATATATGTGTGT GTGTGTGT	PIWIL3	ENSG00000184571.14	transcript	ENST00000616349.5	protein_coding	4/20			chr22	TogoVar
PIWIL3_chr22_24714034_24779720	24757665	C C	CACACACA others(31): Show CACACACACACACACACATATATAAAATATGTATATATT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0013 a0013	a0013c0018 a0013c0018	a0013c0018t0001 a0013c0018t0001	a0013c0018t0001g0360 a0013c0018t0001g0360	1	386	0.0026	38	c.355 others(53): Show c.355+242_355+243insAATATATACATATTTTATATATGTGTGTGT GTGTGTGT	PIWIL3	ENSG00000184571.14	transcript	ENST00000616349.5	protein_coding	4/20			chr22	TogoVar
PIWIL3_chr22_24714034_24779720	24757665	C C	CACACACA others(31): Show CACACACACACACACATATATATAAAATATGTATATATT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01167.hp1 HG01169.hp2 others(2): Show HG01099.hp1 HG01167.hp1 HG01169.hp2 HG02055.hp2 NA18522.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0009 a0006c0009t0001g0312 a0006c0009t0001g0313 others(1): Show a0006c0009t0001g0009 a0006c0009t0001g0312 a0006c0009t0001g0313 a0006c0009t0001g0355	5	386	0.0130	38	c.355 others(53): Show c.355+242_355+243insAATATATACATATTTTATATATATGTGTGT GTGTGTGT	PIWIL3	ENSG00000184571.14	transcript	ENST00000616349.5	protein_coding	4/20			chr22	TogoVar
PIWIL3_chr22_24714034_24779720	24760780	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	386	0.0026	38	c.103 others(53): Show c.103-792_103-791insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	PIWIL3	ENSG00000184571.14	transcript	ENST00000616349.5	protein_coding	2/20			chr22	TogoVar
PJA2_chr5_109329722_109414974	109339244	A A	AATGCCTT others(31): Show AATGCCTTTAATGATGGCATGATAGATAATGAAGATTTG	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0085 a0003c0003t0002g0085	1	346	0.0029	38	c.200 others(57): Show c.2002-1926_2002-1889dupCAAATCTTCATTATCTATCATGCCAT CATTAAAGGCAT	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	9/9			chr5	TogoVar
PJA2_chr5_109329722_109414974	109340617	T T	TCCCTCTC others(31): Show TCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	346	0.0029	38	c.200 others(57): Show c.2002-3262_2002-3261insGGAGGGGGAGGGGGAGGGGGAGAGGG AGAGGGAGAGGG	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	9/9			chr5	TogoVar
PJA2_chr5_109329722_109414974	109354499	C C	CATAGATA others(31): Show CATAGATATCTATATCGATATTAGATATCTATAATATCT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03225.hp2 HG02723.hp1 HG03225.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0193 a0002c0002t0001g0006 a0002c0002t0001g0193	2	346	0.0058	38	c.176 others(57): Show c.1764+1378_1764+1415dupAGATATTATAGATATCTAATATCGAT ATAGATATCTAT	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	7/9			chr5	TogoVar
PKD1L1_chr7_47769614_47953466	47880249	T T	TAGATAGA others(31): Show TAGATAGATAGATAGATAGATAGATAGATAGATAGATAG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0009 a0009	a0009c0099 a0009c0099	a0009c0099t0001 a0009c0099t0001	a0009c0099t0001g0164 a0009c0099t0001g0164	1	306	0.0033	38	c.352 others(55): Show c.3520+478_3520+479insCTATCTATCTATCTATCTATCTATCTAT CTATCTATCT	PKD1L1	ENSG00000158683.10	transcript	ENST00000289672.7	protein_coding	21/56			chr7	TogoVar
PKD1L1_chr7_47769614_47953466	47880284	A A	ATATATAT others(31): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0068 a0001c0068	a0001c0068t0001 a0001c0068t0001	a0001c0068t0001g0032 a0001c0068t0001g0032	1	306	0.0033	38	c.352 others(55): Show c.3520+443_3520+444insAAAAAAAAAAAAAAAATATATATATATA TATATATATA	PKD1L1	ENSG00000158683.10	transcript	ENST00000289672.7	protein_coding	21/56			chr7	TogoVar
PKD1_chr16_2083708_2140898	2104181	A A	AAAGGGAG others(31): Show AAAGGGAGGGGAAGGGGGATAAGGGAGGGGAAGGGGGAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG02109.hp1 others(8): Show HG01069.hp1 HG01071.hp2 HG02109.hp1 HG02145.hp1 HG02717.hp2 HG02970.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 NA18522.hp2 NA18906.hp2	a0005 a0006 a0011 others(1): Show a0005 a0006 a0011 a0072	a0005c0007 a0006c0005 a0006c0110 others(2): Show a0005c0007 a0006c0005 a0006c0110 a0011c0022 a0072c0121	a0005c0007t0002 a0006c0005t0004 a0006c0110t0004 others(2): Show a0005c0007t0002 a0006c0005t0004 a0006c0110t0004 a0011c0022t0002 a0072c0121t0004	a0005c0007t0002g0044 a0006c0005t0004g0007 a0006c0005t0004g0008 others(8): Show a0005c0007t0002g0044 a0006c0005t0004g0007 a0006c0005t0004g0008 a0006c0005t0004g0009 a0006c0005t0004g0010 a0006c0005t0004g0011 a0006c0005t0004g0013 a0006c0110t0004g0014 a0011c0022t0002g0172 a0011c0022t0002g0174 a0072c0121t0004g0015	11	216	0.0509	38	c.816 others(55): Show c.8161+279_8162-287dupATCCCCCTTCCCCTCCCTTATCCCCCTT CCCCTCCCTT	PKD1	ENSG00000008710.20	transcript	ENST00000262304.9	protein_coding	22/45			chr16	TogoVar
PKD2L1_chr10_100283149_100335228	100321756	A A	AAAGAAAG others(31): Show AAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	306	0.0033	38	c.349 others(55): Show c.349+7454_349+7455insCTTTCTTTCTTTCTTTCTTTCTTCTTTC TTTCTTTCTT	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PKDREJ_chr22_46250663_46268343	46255878	T T	TTTCAATG others(31): Show TTTCAATGTGAACCCATATGTACCTTTTTGTTGTTTAAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0000 a0001c0001t0006g0000	1	304	0.0033	38	c.64 others(47): Show c.645_*682dupGTTAAACAACAAAAAGGTACATATGGGTTCACATTG AA	PKDREJ	ENSG00000130943.7	transcript	ENST00000253255.7	protein_coding	1/1	682		chr22	TogoVar
PKHD1L1_chr8_109357461_109542207	109410720	C C	CTTTTCTT others(31): Show CTTTTCTTTTTCTTTTTTTTTTTTTTTTTTGTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG01175.hp2 others(3): Show HG00280.hp1 HG00423.hp1 HG01175.hp2 HG01261.hp1 HG02132.hp2 HG02155.hp2	a0001 a0004 a0034 a0001 a0004 a0034	a0001c0001 a0004c0004 a0034c0051 a0001c0001 a0004c0004 a0034c0051	a0001c0001t0002 a0004c0004t0001 a0034c0051t0002 a0001c0001t0002 a0004c0004t0001 a0034c0051t0002	a0001c0001t0002g0218 a0004c0004t0001g0241 a0004c0004t0001g0244 others(3): Show a0001c0001t0002g0218 a0004c0004t0001g0241 a0004c0004t0001g0244 a0004c0004t0001g0251 a0004c0004t0001g0278 a0034c0051t0002g0250	6	282	0.0213	38	c.208 others(55): Show c.2085+746_2085+747insCTTTTTCTTTTTTTTTTTTTTTTTTGTT TTTTTTTTTT	PKHD1L1	ENSG00000205038.12	transcript	ENST00000378402.10	protein_coding	19/77		INFO_REALIGN_3_PRIME	chr8	TogoVar
PKHD1L1_chr8_109357461_109542207	109410720	C C	CTTTTCTT others(31): Show CTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0041 a0004c0004t0041	a0004c0004t0041g0243 a0004c0004t0041g0243	1	282	0.0036	38	c.208 others(55): Show c.2085+746_2085+747insCTTTTTCTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	PKHD1L1	ENSG00000205038.12	transcript	ENST00000378402.10	protein_coding	19/77		INFO_REALIGN_3_PRIME	chr8	TogoVar
PKIA_chr8_78511340_78610267	78602694	A A	AATACATA others(31): Show AATACATATATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0014 a0001c0001t0014g0014	1	186	0.0054	38	c.87 others(47): Show c.876_*877insCATATATATATATATATATATATATATATATATATA TA	PKIA	ENSG00000171033.13	transcript	ENST00000396418.7	protein_coding	4/4	877	INFO_REALIGN_3_PRIME	chr8	TogoVar
PKP3_chr11_389209_409908	402559	G G	GACCCCGC others(31): Show GACCCCGCTCACCCCCGACCCCCGACCCCGCTCACACCC	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02723.hp1 HG02129.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0075 a0001c0001t0001g0012 a0001c0001t0001g0075	2	216	0.0093	38	c.173 others(55): Show c.1738-519_1738-518insACCCCGCTCACCCCCGACCCCCGACCCC GCTCACACCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
PKP3_chr11_389209_409908	402943	G G	GGCTCCGC others(31): Show GGCTCCGCTCACCCCCGACCCCCGGCTCCGCTCACCCCC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0125 a0001c0002t0001g0125	1	216	0.0046	38	c.173 others(55): Show c.1738-133_1738-132insTCCGCTCACCCCCGACCCCCGGCTCCGC TCACCCCCGC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP4_chr2_158451952_158686429	158566479	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA21309.hp2 HG03195.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0304 a0001c0001t0001g0305	2	308	0.0065	38	c.133 others(57): Show c.133-10779_133-10778insTATATATATATATATATATATATATA TATATATATATA	PKP4	ENSG00000144283.23	transcript	ENST00000389759.8	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr2	TogoVar
PLA2G12B_chr10_72929762_72959806	72940481	C C	CGGGCAGA others(31): Show CGGGCAGATCGCTTGAGTTCAGGAGTTCGAGACCAGCCT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00558.hp1 others(138): Show HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG01069.hp1 HG01081.hp2 HG01123.hp2 HG01175.hp2 HG01243.hp2 HG01346.hp1 HG01433.hp2 HG01884.hp1 HG01891.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG03834.hp2 HG03942.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA18943.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18952.hp1 NA18955.hp1 NA18960.hp1 NA18961.hp2 NA18967.hp2 NA18973.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18984.hp1 NA18985.hp1 NA18986.hp2 NA18988.hp1 NA18990.hp1 NA18993.hp1 NA18998.hp1 NA19004.hp1 NA19005.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19060.hp1 NA19063.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19075.hp1 NA19076.hp1 NA19077.hp1 NA19080.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0003t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(73): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0004g0050 a0001c0001t0004g0054 a0001c0001t0005g0087 a0001c0003t0001g0133	141	326	0.4325	38	c.466 others(53): Show c.466+687_466+688insAGGCTGGTCTCGAACTCCTGAACTCAAGCG ATCTGCCC	PLA2G12B	ENSG00000138308.6	transcript	ENST00000373032.4	protein_coding	3/3			chr10	TogoVar
PLA2G4A_chr1_186823949_186993981	186878350	A A	ATCTATAT others(31): Show ATCTATATAAATATATCTTTTCTGATATATTTATATATA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	310	0.0032	38	c.115 others(55): Show c.115+7835_115+7836insCTATATAAATATATCTTTTCTGATATAT TTATATATAT	PLA2G4A	ENSG00000116711.10	transcript	ENST00000367466.4	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PLA2G4C_chr19_48042846_48115817	48055389	G G	GTATATAT others(31): Show GTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0015 a0015	a0015c0058 a0015c0058	a0015c0058t0015 a0015c0058t0015	a0015c0058t0015g0313 a0015c0058t0015g0313	1	322	0.0031	38	c.125 others(55): Show c.1258-341_1258-340insTATATATATATATATATATATATATATA TATATATATA	PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding	14/16			chr19	TogoVar
PLAAT3_chr11_63569462_63619433	63615022	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATGTATGTATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	352	0.0028	38	c.-69 others(47): Show c.-693_-692insCATATATACATACATATATATATATATATATATATA TA	PLAAT3	ENSG00000176485.14	transcript	ENST00000415826.3	protein_coding		590		chr11	TogoVar
PLAAT3_chr11_63569462_63619433	63615050	A A	ATATATGT others(31): Show ATATATGTATGTATATATGTATATATGTGTATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG02071.hp1 HG02083.hp2 others(1): Show HG00280.hp2 HG02071.hp1 HG02083.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0076 a0001c0001t0002g0118 others(1): Show a0001c0001t0002g0031 a0001c0001t0002g0076 a0001c0001t0002g0118 a0001c0001t0002g0125	4	352	0.0114	38	c.-72 others(47): Show c.-721_-720insCATATATATACACATATATACATATATACATACATA TA	PLAAT3	ENSG00000176485.14	transcript	ENST00000415826.3	protein_coding		618		chr11	TogoVar
PLAAT3_chr11_63569462_63619433	63615064	G G	GTATATAT others(31): Show GTATATATGTGTATATATATGTGTGTATATGTGTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	352	0.0028	38	c.-73 others(47): Show c.-735_-734insTATATACACATATACACACATATATATACACATATA TA	PLAAT3	ENSG00000176485.14	transcript	ENST00000415826.3	protein_coding		632		chr11	TogoVar
PLAAT5_chr11_63456404_63496167	63483784	A A	AATATATA others(31): Show AATATATATATATATATATATGTATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0008 a0002c0004t0008	a0002c0004t0008g0092 a0002c0004t0008g0092	1	358	0.0028	38	c.345 others(55): Show c.345+5086_345+5087insATATATATATATATATACATATATATAT ATATATATAT	PLAAT5	ENSG00000168004.10	transcript	ENST00000540857.6	protein_coding	3/5			chr11	TogoVar
PLAT_chr8_42169718_42212565	42203992	T T	TATATATA others(31): Show TATATATATATATATATATATATACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0314 a0001c0002t0001g0314	1	378	0.0027	38	c.-27 others(55): Show c.-27+3501_-27+3502insGTGTGTGTGTGTGTGTATATATATATAT ATATATATAT	PLAT	ENSG00000104368.19	transcript	ENST00000220809.9	protein_coding	1/13			chr8	TogoVar
PLAT_chr8_42169718_42212565	42203992	T T	TATATATA others(31): Show TATATATATATATATATATATATATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG03486.hp2 HG02015.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0003t0002 a0001c0002t0003 a0001c0003t0002	a0001c0002t0003g0333 a0001c0003t0002g0326 a0001c0002t0003g0333 a0001c0003t0002g0326	2	378	0.0053	38	c.-27 others(55): Show c.-27+3501_-27+3502insGTGTGTGTGTGTGTATATATATATATAT ATATATATAT	PLAT	ENSG00000104368.19	transcript	ENST00000220809.9	protein_coding	1/13			chr8	TogoVar
PLAT_chr8_42169718_42212565	42203992	T T	TATATATA others(31): Show TATATATATATATATATATATATATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0330 a0001c0002t0003g0330	1	378	0.0027	38	c.-27 others(55): Show c.-27+3501_-27+3502insGTGTGTGTGTGTATATATATATATATAT ATATATATAT	PLAT	ENSG00000104368.19	transcript	ENST00000220809.9	protein_coding	1/13			chr8	TogoVar
PLBD1_chr12_14498661_14572883	14540053	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0239 a0002c0002t0001g0239	1	360	0.0028	38	c.558 others(53): Show c.558+710_558+711insGTGTGTGTATATATATATATATATATATAT ATATATAT	PLBD1	ENSG00000121316.11	transcript	ENST00000240617.10	protein_coding	4/10			chr12	TogoVar
PLCB1_chr20_8127266_8889900	8391763	G G	GTATATAT others(31): Show GTATATATATATATATGTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0001 a0002c0025t0001	a0002c0025t0001g0044 a0002c0025t0001g0044	1	106	0.0094	38	c.246 others(57): Show c.246+20329_246+20366dupGTGTGTGTATATATATATATATATAT ATATATATATAT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB1_chr20_8127266_8889900	8523490	C C	CCATATAT others(31): Show CCATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0003 a0001c0011t0003	a0001c0011t0003g0067 a0001c0011t0003g0067	1	106	0.0094	38	c.247 others(59): Show c.247-104804_247-104803insCATATATATATATATATATATATA TATATATATATATA	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	3/31			chr20	TogoVar
PLCB3_chr11_64246530_64272923	64257016	T T	TTTTTTTT others(31): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0047 a0001c0004t0001g0047	1	382	0.0026	38	c.101 others(55): Show c.1012+257_1012+258insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTCTTTTT	PLCB3	ENSG00000149782.13	transcript	ENST00000279230.12	protein_coding	10/30		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLCD4_chr2_218602899_218642175	218616927	T T	TATATATA others(31): Show TATATATATATATATATATATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0241 a0001c0001t0003g0241	1	298	0.0034	38	c.181 others(53): Show c.181+866_181+867insTATATATATATATATATATATATATAGAGA GAGAGAGA	PLCD4	ENSG00000115556.14	transcript	ENST00000450993.7	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
PLCXD1_chrX_276381_308356	280550	G G	GGGGAAGG others(31): Show GGGGAAGGGGGGCCGTGCAGGGGGAAGGGGGGCCGTGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0114 a0001c0001t0114	a0001c0001t0114g0013 a0001c0001t0114g0013	1	176	0.0057	38	c.-11 others(49): Show c.-1156_-1155insGGGAAGGGGGGCCGTGCAGGGGGAAGGGGGGCCG TGCA	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		830		chrX	TogoVar
PLD5_chr1_242077986_242529697	242395043	G G	GTATATAT others(31): Show GTATATATGAATATATATGTATATATGAATATATATGTA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0078	a0001c0001t0078g0183 a0001c0001t0078g0183	1	188	0.0053	38	c.190 others(57): Show c.190-46802_190-46801insTACATATATATTCATATATACATATA TATTCATATATA	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	1/9			chr1	TogoVar
PLEKHA4_chr19_48832097_48873617	48835007	G G	GAGCCTGG others(31): Show GAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 NA18906.hp2 HG03834.hp2 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0010 a0001c0001 a0002c0010	a0001c0001t0001 a0002c0010t0003 a0001c0001t0001 a0002c0010t0003	a0001c0001t0001g0188 a0002c0010t0003g0235 a0001c0001t0001g0188 a0002c0010t0003g0235	2	300	0.0067	38	c.22 others(49): Show c.2281_*2282insTCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCA GGCT	PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding		2089		chr19	TogoVar
PLEKHA5_chr12_19124733_19381400	19253064	C C	CTTTTTTT others(31): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02148.hp2 HG01928.hp1 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0055 a0001c0001t0009g0206 a0001c0001t0002g0055 a0001c0001t0009g0206	2	316	0.0063	38	c.228 others(53): Show c.228-850_228-849insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	PLEKHA5	ENSG00000052126.17	transcript	ENST00000429027.7	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLEKHG1_chr6_150594885_150848665	150804155	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	272	0.0037	38	c.781 others(53): Show c.781-434_781-433insATATATATATATATATATATATATATATAT ATATATAT	PLEKHG1	ENSG00000120278.17	transcript	ENST00000696526.1	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLEKHG1_chr6_150594885_150848665	150804175	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0006 a0001c0013t0006	a0001c0013t0006g0125 a0001c0013t0006g0125	1	272	0.0037	38	c.781 others(53): Show c.781-434_781-433insATATATATATATATATATATATATATATAT ATATTTTT	PLEKHG1	ENSG00000120278.17	transcript	ENST00000696526.1	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLEKHG4B_chr5_87168_194966	190659	G G	GGCAGAGA others(31): Show GGCAGAGATACCATTGATTCTATTTCGCTGCAGTATGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0075 a0002c0005t0075	a0002c0005t0075g0076 a0002c0005t0075g0076	1	210	0.0048	38	c.83 others(49): Show c.8336_*8337insGCAGAGATACCATTGATTCTATTTCGCTGCAGTA TGTT	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding		694		chr5	TogoVar
PLEKHM3_chr2_207816288_208030527	207865801	A A	AAAAAAAA others(31): Show AAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0133 a0001c0002t0003g0133	1	200	0.0050	38	c.195 others(57): Show c.1951-4540_1951-4539insATATATATATATATATATATATATAT ATTTTTTTTTTT	PLEKHM3	ENSG00000178385.15	transcript	ENST00000427836.8	protein_coding	6/7			chr2	TogoVar
PLGRKT_chr9_5352971_5442925	5424691	T T	TATATATA others(31): Show TATATATATATATATATATATATATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	414	0.0024	38	c.81+ others(53): Show c.81+7205_81+7206insGTGTGTGTGTGTGTATATATATATATATAT ATATATAT	PLGRKT	ENSG00000107020.10	transcript	ENST00000223864.7	protein_coding	3/5			chr9	TogoVar

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