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
PDE1A_chr2_182135041_182432036	182385704	G G	GCTCTCCC others(23): Show GCTCTCCCTCTCCCTCCTCTCCCTCTCCCTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02622.hp2 NA19075.hp2 HG00099.hp2 HG02622.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0040 a0001c0001t0002g0080 a0001c0001t0007g0031 a0001c0001t0002g0040 a0001c0001t0002g0080 a0001c0001t0007g0031	3	264	0.0114	30	c.53+ others(47): Show c.53+40844_53+40873dupGAGGGAGAGGGAGAGGAGGGAGAGGGAG AG	PDE1A	ENSG00000115252.19	transcript	ENST00000409365.6	protein_coding	1/14			chr2	TogoVar
PDE3B_chr11_14638804_14877044	14749899	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG01074.hp1 others(34): Show HG00408.hp1 HG00438.hp1 HG01074.hp1 HG01169.hp1 HG01175.hp1 HG01261.hp1 HG01975.hp1 HG02055.hp1 HG02074.hp1 HG02083.hp2 HG02572.hp1 HG02698.hp1 HG02738.hp2 HG02809.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02976.hp2 HG03491.hp1 HG04115.hp1 HG04199.hp2 HG04228.hp2 NA18612.hp1 NA18955.hp2 NA18962.hp1 NA18964.hp1 NA18965.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18991.hp2 NA19009.hp2 NA19060.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0014	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 others(33): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0268 a0001c0001t0001g0282 a0001c0001t0001g0287 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0002g0026 a0001c0001t0002g0030 a0001c0001t0002g0058 a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0009g0128 a0001c0001t0014g0274	37	332	0.1115	30	c.979 others(49): Show c.979-22024_979-22023insATATATATATATATATATATATATAT ATAT	PDE3B	ENSG00000152270.9	transcript	ENST00000282096.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
PDE4B_chr1_65787895_66379574	66345194	C C	CTTGTTCT others(23): Show CTTGTTCTCTTTGCTCAAAAGTTGAGCAAAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02165.hp2 NA18940.hp1 others(1): Show HG01109.hp1 HG02165.hp2 NA18940.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0002t0004 a0001c0001t0003 a0001c0002t0001 a0001c0002t0004	a0001c0001t0003g0001 a0001c0002t0001g0008 a0001c0002t0001g0010 others(1): Show a0001c0001t0003g0001 a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0004g0040	4	118	0.0339	30	c.748 others(49): Show c.748-10307_748-10278dupCAAAGTTGTTCTCTTTGCTCAAAAGT TGAG	PDE4B	ENSG00000184588.18	transcript	ENST00000341517.9	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PDE4D_chr5_58964038_59898726	59079838	G G	GGGAGAGG others(23): Show GGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	74	0.0135	30	c.809 others(49): Show c.809-40868_809-40867insTCTCCTCTCCTCTCCTCTCCTCTCCT CTCC	PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	5/14			chr5	TogoVar
PDE4D_chr5_58964038_59898726	59171996	A A	ATATTTAT others(23): Show ATATTTATATAATAAATATATAATATATATT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0013 a0001c0001t0009g0013	1	74	0.0135	30	c.808 others(47): Show c.808+8598_808+8599insAATATATATTATATATTTATTATATAAA TA	PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	5/14			chr5	TogoVar
PDE4D_chr5_58964038_59898726	59172018	A A	ATATTTAT others(23): Show ATATTTATATAATAAATATATAATATATATT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02723.hp2 HG02622.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0003 a0001c0001t0011	a0001c0001t0003g0045 a0001c0001t0011g0010 a0001c0001t0003g0045 a0001c0001t0011g0010	2	74	0.0270	30	c.808 others(47): Show c.808+8576_808+8577insAATATATATTATATATTTATTATATAAA TA	PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	5/14			chr5	TogoVar
PDE4D_chr5_58964038_59898726	59200109	A A	ACACATAC others(23): Show ACACATACATGCATGTAGACATACATGTATG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	74	0.0135	30	c.648 others(47): Show c.648-6574_648-6573insCATACATGTATGTCTACATGCATGTATG TG	PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	2/14			chr5	TogoVar
PDE4D_chr5_58964038_59898726	59762533	C C	CATATGTG others(23): Show CATATGTGTATATGTGTATATGGGTACACAT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01361.hp1 HG01169.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0063 a0001c0001t0001g0034 a0001c0001t0001g0063	2	74	0.0270	30	c.455 others(51): Show c.455+130634_455+130635insATGTGTACCCATATACACATATAC ACATAT	PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	1/14			chr5	TogoVar
PDE5A_chr4_119489403_119633804	119632087	G G	GAGATATA others(23): Show GAGATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0012 a0002c0005t0012	a0002c0005t0012g0152 a0002c0005t0012g0152	1	336	0.0030	30	c.-34 others(41): Show c.-3417_-3416insATATATATATATATATATATATATATATCT	PDE5A	ENSG00000138735.16	transcript	ENST00000354960.8	protein_coding		3284		chr4	TogoVar
PDE5A_chr4_119489403_119633804	119632087	G G	GATAGATA others(23): Show GATAGATAGATATAGATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0007 a0004c0007t0007	a0004c0007t0007g0041 a0004c0007t0007g0041	1	336	0.0030	30	c.-34 others(41): Show c.-3417_-3416insATATATATATATATATCTATATCTATCTAT	PDE5A	ENSG00000138735.16	transcript	ENST00000354960.8	protein_coding		3284		chr4	TogoVar
PDE5A_chr4_119489403_119633804	119632087	G G	GATAGATA others(23): Show GATAGATATATATATACATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02886.hp2 HG03540.hp2 HG02818.hp2 HG02886.hp2 HG03540.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0015 a0002c0003t0015	a0002c0003t0015g0018 a0002c0003t0015g0019 a0002c0003t0015g0020 a0002c0003t0015g0018 a0002c0003t0015g0019 a0002c0003t0015g0020	3	336	0.0089	30	c.-34 others(41): Show c.-3417_-3416insATATATATATATATGTATATATATATCTAT	PDE5A	ENSG00000138735.16	transcript	ENST00000354960.8	protein_coding		3284		chr4	TogoVar
PDE5A_chr4_119489403_119633804	119632087	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01515.hp2 HG01517.hp2 others(10): Show HG01123.hp2 HG01515.hp2 HG01517.hp2 HG02015.hp2 HG02148.hp2 HG02280.hp2 HG02602.hp1 HG02698.hp2 HG02896.hp2 HG03041.hp2 HG03453.hp2 HG04115.hp1 NA18957.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0004 a0001c0001 a0002c0003 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0021 a0002c0003t0003 a0002c0003t0019 a0003c0004t0008	a0001c0001t0001g0169 a0001c0001t0001g0177 a0001c0001t0001g0206 others(10): Show a0001c0001t0001g0169 a0001c0001t0001g0177 a0001c0001t0001g0206 a0001c0001t0001g0243 a0001c0001t0001g0256 a0001c0001t0001g0260 a0001c0001t0002g0301 a0001c0001t0006g0299 a0001c0001t0021g0307 a0002c0003t0003g0271 a0002c0003t0003g0273 a0002c0003t0019g0281 a0003c0004t0008g0158	13	336	0.0387	30	c.-34 others(41): Show c.-3417_-3416insATATATATATATATATATATATATATATAT	PDE5A	ENSG00000138735.16	transcript	ENST00000354960.8	protein_coding		3284		chr4	TogoVar
PDE6A_chr5_149852953_149949793	149900375	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp1 HG01346.hp2 others(1): Show HG00423.hp1 HG00558.hp1 HG01346.hp2 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0002 a0001c0001t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0003g0096 others(1): Show a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0003g0096 a0001c0002t0002g0261	4	328	0.0122	30	c.111 others(47): Show c.1114-852_1114-851insTATATATATATATATATATATATATATA TA	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	8/21			chr5	TogoVar
PDE6A_chr5_149852953_149949793	149900375	G G	GTGTATAT others(23): Show GTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	328	0.0031	30	c.111 others(47): Show c.1114-852_1114-851insTATATATATATATATATATATATATATA CA	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	8/21			chr5	TogoVar
PDE6A_chr5_149852953_149949793	149900385	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	328	0.0031	30	c.111 others(47): Show c.1114-862_1114-861insCATATATATATATATATATATATATATA TA	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	8/21			chr5	TogoVar
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATAT others(23): Show ATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0309 a0001c0002t0001g0309	1	328	0.0031	30	c.858 others(47): Show c.858+2796_858+2797insAAAAAAAAAAAATATATATATATATATA TA	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21			chr5	TogoVar
PDE6D_chr2_231727433_231786282	231729660	T T	TCCCCACC others(23): Show TCCCCACCAGTTCAAATCCCACCCACACCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	266	0.0038	30	c.32 others(41): Show c.3291_*3292insGAGGTGTGGGTGGGATTTGAACTGGTGGGG	PDE6D	ENSG00000156973.14	transcript	ENST00000287600.9	protein_coding		2772		chr2	TogoVar
PDE6G_chr17_81645459_81661542	81660091	A A	AAGAAAAG others(23): Show AAGAAAAGAAAAAAAGAAAAGAAACAAAATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0065	1	434	0.0023	30	c.-36 others(41): Show c.-3688_-3659dupCATTTTGTTTCTTTTCTTTTTTTCTTTTCT	PDE6G	ENSG00000185527.12	transcript	ENST00000331056.10	protein_coding		3550		chr17	TogoVar
PDE7A_chr8_65709334_65847064	65730171	C C	CTTCTTTT others(23): Show CTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0048 a0002c0002t0048	a0002c0002t0048g0055 a0002c0002t0048g0055	1	248	0.0040	30	c.697 others(47): Show c.697-2871_697-2870insAAAAAAAAAAAAAAAAAAAAAAAAAAAG AA	PDE7A	ENSG00000205268.11	transcript	ENST00000401827.8	protein_coding	7/12			chr8	TogoVar
PDE7B_chr6_135846701_136200574	135928489	A A	ATATATAT others(23): Show ATATATATATATTTATATATATATATTTATT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	142	0.0070	30	c.22- others(47): Show c.22-18964_22-18935dupTTTATATATATATATTTATTTATATATA TA	PDE7B	ENSG00000171408.14	transcript	ENST00000308191.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
PDE7B_chr6_135846701_136200574	135934766	T T	TATATATA others(23): Show TATATATATATTTATTATATATATATTTTAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01109.hp2 HG01255.hp2 others(19): Show HG00544.hp2 HG01109.hp2 HG01255.hp2 HG01884.hp1 HG01981.hp1 HG02155.hp1 HG02165.hp1 HG02451.hp2 HG02559.hp2 HG02698.hp2 HG02965.hp2 HG03669.hp2 HG03710.hp2 HG03834.hp2 HG03942.hp2 HG04228.hp2 NA18944.hp1 NA18995.hp2 NA19001.hp1 NA19011.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0005 a0001c0001 a0001c0003 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0003t0006 a0001c0003t0027 a0002c0005t0014	a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0060 others(19): Show a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0083 a0001c0001t0001g0104 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0002g0006 a0001c0001t0006g0116 a0001c0001t0007g0035 a0001c0001t0009g0128 a0001c0003t0006g0001 a0001c0003t0027g0074 a0002c0005t0014g0028	22	142	0.1549	30	c.22- others(47): Show c.22-12670_22-12641dupTAAATATATATATTTATTATATATATAT TT	PDE7B	ENSG00000171408.14	transcript	ENST00000308191.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
PDE8A_chr15_84976856_85144142	85119468	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03490.hp2 NA18978.hp1 HG03490.hp2 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0090 a0001c0001t0001g0084 a0001c0001t0001g0090	2	344	0.0058	30	c.173 others(49): Show c.1735-1316_1735-1315insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	PDE8A	ENSG00000073417.15	transcript	ENST00000394553.6	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
PDE8B_chr5_77205680_77433256	77397026	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0242 a0001c0001t0006g0242	1	314	0.0032	30	c.116 others(49): Show c.1168-3198_1168-3197insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	PDE8B	ENSG00000113231.14	transcript	ENST00000264917.10	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDE9A_chr21_42648621_42780509	42726624	A A	ATATATAT others(23): Show ATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	324	0.0031	30	c.263 others(47): Show c.263-5145_263-5144insATATATATATATATATATATATTTTTTT TT	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDE9A_chr21_42648621_42780509	42726624	A A	ATATATAT others(23): Show ATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0307 a0001c0001t0001g0307	1	324	0.0031	30	c.263 others(47): Show c.263-5145_263-5144insATATATATATATATTTTTTTTTTTTTTT TT	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDGFA_chr7_492258_524846	501687	T T	TGCTGGAA others(23): Show TGCTGGAACTTCAAGTGAGAGCCGCCGCGCC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0131 a0001c0001t0131	a0001c0001t0131g0185 a0001c0001t0131g0185	1	302	0.0033	30	c.454 others(45): Show c.454-475_454-446dupGGCGCGGCGGCTCTCACTTGAAGTTCCAGC	PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding	4/5			chr7	TogoVar
PDGFC_chr4_156755454_156976799	156825590	T T	TAAGAAGA others(23): Show TAAGAAGAAGAAGAAGAAGAAGGAGAAGAAG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0176 a0001c0001t0004g0176	1	208	0.0048	30	c.315 others(49): Show c.315-14574_315-14573insCTTCTTCTCCTTCTTCTTCTTCTTCT TCTT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	2/5			chr4	TogoVar
PDGFD_chr11_103902189_104169147	103953169	G G	GATGTATA others(23): Show GATGTATATATACAAAATGTATACATACAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp1 NA18970.hp2 others(3): Show HG00544.hp1 HG00558.hp1 NA18970.hp2 NA18985.hp1 NA19084.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001	a0001c0001t0002g0024 a0001c0001t0002g0079 a0001c0001t0003g0007 others(3): Show a0001c0001t0002g0024 a0001c0001t0002g0079 a0001c0001t0003g0007 a0001c0001t0003g0169 a0001c0001t0003g0172 a0001c0002t0001g0050	6	200	0.0300	30	c.511 others(47): Show c.511-5475_511-5446dupTTTGTATGTATACATTTTGTATATATAC AT	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	3/6			chr11	TogoVar
PDGFD_chr11_103902189_104169147	104082133	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02257.hp2 HG02735.hp1 others(7): Show HG02145.hp2 HG02257.hp2 HG02735.hp1 HG03471.hp2 HG03688.hp2 NA18965.hp2 NA18990.hp1 NA19030.hp2 NA19068.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005	a0001c0001t0002g0041 a0001c0001t0002g0155 a0001c0001t0002g0162 others(7): Show a0001c0001t0002g0041 a0001c0001t0002g0155 a0001c0001t0002g0162 a0001c0001t0003g0095 a0001c0001t0003g0120 a0001c0002t0001g0105 a0001c0002t0001g0184 a0001c0002t0004g0033 a0001c0002t0005g0108 a0001c0002t0005g0188	10	200	0.0500	30	c.124 others(49): Show c.124+81670_124+81671insATATATATATATATATATATATATAT ATAT	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDGFD_chr11_103902189_104169147	104082137	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA19043.hp2 HG02109.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0019 a0001c0001t0002 a0001c0001t0019	a0001c0001t0002g0110 a0001c0001t0019g0153 a0001c0001t0002g0110 a0001c0001t0019g0153	2	200	0.0100	30	c.124 others(49): Show c.124+81666_124+81667insATATATATATATATATATATATATAT ATAT	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDGFD_chr11_103902189_104169147	104119143	T T	TGATATAT others(23): Show TGATATATATTAATATAATATATTGGTATAA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	1	200	0.0050	30	c.124 others(49): Show c.124+44660_124+44661insTTATACCAATATATTATATTAATATA TATC	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDGFRL_chr8_17572216_17648144	17577082	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG02155.hp2 HG02056.hp2 HG02155.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0318 a0001c0002t0001g0327 a0001c0002t0001g0318 a0001c0002t0001g0327	2	400	0.0050	30	c.-17 others(39): Show c.-171_-170insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding		133		chr8	TogoVar
PDGFRL_chr8_17572216_17648144	17590236	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00621.hp2 HG00733.hp2 others(8): Show HG00558.hp1 HG00621.hp2 HG00733.hp2 HG01943.hp1 HG01981.hp1 HG02027.hp1 HG02129.hp1 HG02970.hp2 NA18940.hp2 NA18947.hp2 NA18971.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0001c0001t0001 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0158 others(8): Show a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0158 a0001c0001t0001g0367 a0001c0002t0001g0075 a0001c0002t0001g0106 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0340 a0001c0002t0001g0368 a0002c0003t0001g0276	11	400	0.0275	30	c.353 others(45): Show c.353+491_353+492insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDGFRL_chr8_17572216_17648144	17641896	T T	TCCCCGCC others(23): Show TCCCCGCCCCCCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA20300.hp2 HG02074.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0244 a0001c0001t0001g0120 a0001c0001t0001g0244	2	400	0.0050	30	c.940 others(45): Show c.940-710_940-709insCCCCCCCCCCCCCCCCCCCCCCCCCCCGCC	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDIA2_chr16_278164_292215	285909	C C	CCCAACCC others(23): Show CCCAACCCCAACCCCAACCCCAACCCCAACA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02976.hp2 HG01109.hp2 HG02976.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0002 a0006c0014t0002	a0006c0014t0002g0027 a0006c0014t0002g0027	2	436	0.0046	30	c.111 others(47): Show c.1119+214_1119+215insAACCCCAACCCCAACCCCAACACCAACC CC	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDIA2_chr16_278164_292215	285966	T T	TCCCAACC others(23): Show TCCCAACCCCAACCCCAACCCCAACCCCAAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0024 a0003c0008t0001g0024	1	436	0.0023	30	c.111 others(47): Show c.1119+272_1119+273insAACCCCAACCCCAACCCCAACCCCAACC CC	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDIA5_chr3_123062025_123167104	123072912	C C	CTGTGTGT others(23): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02895.hp1 HG02735.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0303 a0001c0001t0001g0259 a0001c0001t0001g0303	2	332	0.0060	30	c.42+ others(45): Show c.42+5708_42+5737dupGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	PDIA5	ENSG00000065485.20	transcript	ENST00000316218.12	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
PDIA5_chr3_123062025_123167104	123117372	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03516.hp2 HG02970.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0299 a0001c0001t0001g0300	2	332	0.0060	30	c.609 others(47): Show c.609+1075_609+1076insATATATATATATATATATATATATATAT AT	PDIA5	ENSG00000065485.20	transcript	ENST00000316218.12	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
PDIA5_chr3_123062025_123167104	123117374	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01123.hp1 HG03195.hp1 others(1): Show HG00639.hp2 HG01123.hp1 HG03195.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0001t0001 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0092 a0001c0001t0001g0129 a0001c0003t0001g0258 others(1): Show a0001c0001t0001g0092 a0001c0001t0001g0129 a0001c0003t0001g0258 a0001c0004t0001g0074	4	332	0.0121	30	c.609 others(47): Show c.609+1101_609+1102insATATATATATATATATATATATATATAT AT	PDIA5	ENSG00000065485.20	transcript	ENST00000316218.12	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
PDIA5_chr3_123062025_123167104	123117374	T T	TTTTATAT others(23): Show TTTTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG03209.hp2 HG01934.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0293 a0001c0001t0001g0294	2	332	0.0060	30	c.609 others(47): Show c.609+1077_609+1078insTTATATATATATATATATATATATATAT AT	PDIA5	ENSG00000065485.20	transcript	ENST00000316218.12	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
PDILT_chr16_20354175_20409737	20402290	A A	ATCTTTTC others(23): Show ATCTTTTCTTTTCTTTTCTTTTCTTTTCTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00673.hp2 HG01168.hp2 others(8): Show HG00099.hp1 HG00673.hp2 HG01168.hp2 HG01175.hp2 HG01981.hp1 HG02451.hp2 NA18942.hp1 NA18949.hp2 NA18981.hp2 NA19007.hp1 NA19072.hp1	a0002 a0003 a0002 a0003	a0002c0004 a0002c0022 a0003c0002 a0002c0004 a0002c0022 a0003c0002	a0002c0004t0001 a0002c0022t0001 a0003c0002t0001 a0002c0004t0001 a0002c0022t0001 a0003c0002t0001	a0002c0004t0001g0030 a0002c0004t0001g0146 a0002c0004t0001g0152 others(8): Show a0002c0004t0001g0030 a0002c0004t0001g0146 a0002c0004t0001g0152 a0002c0004t0001g0188 a0002c0004t0001g0189 a0002c0004t0001g0190 a0002c0004t0001g0273 a0002c0004t0001g0289 a0002c0004t0001g0340 a0002c0022t0001g0153 a0003c0002t0001g0251	11	406	0.0271	30	c.-8+ others(45): Show c.-8+2205_-8+2206insAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA	PDILT	ENSG00000169340.10	transcript	ENST00000302451.9	protein_coding	1/11			chr16	TogoVar
PDLIM1_chr10_95232572_95296003	95256994	G G	GAAAGAAA others(23): Show GAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0109 a0001c0002t0002g0109	1	338	0.0030	30	c.533 others(47): Show c.533+6869_533+6870insTCTTTTCTTTTCTTTTCTTTTCTTTTCT TT	PDLIM1	ENSG00000107438.9	transcript	ENST00000329399.7	protein_coding	4/6			chr10	TogoVar
PDLIM7_chr5_177478394_177502604	177480968	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0051 a0001c0002t0001g0051	1	440	0.0023	30	c.26 others(41): Show c.2675_*2676insAATATATATATATATATATATATATATATA	PDLIM7	ENSG00000196923.14	transcript	ENST00000355841.7	protein_coding		2425		chr5	TogoVar
PDLIM7_chr5_177478394_177502604	177497008	G G	GGGGGAGG others(23): Show GGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02004.hp1 NA18950.hp1 others(3): Show HG01346.hp1 HG02004.hp1 NA18950.hp1 NA18971.hp2 NA18998.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0002t0001g0200 others(3): Show a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0220	6	440	0.0136	30	c.-11 others(45): Show c.-11-486_-11-485insTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC	PDLIM7	ENSG00000196923.14	transcript	ENST00000355841.7	protein_coding	1/12			chr5	TogoVar
PDS5A_chr4_39817863_39982911	39817885	T T	TATATATA others(23): Show TATATATACATATATATATATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	356	0.0028	30	c.75 others(41): Show c.7599_*7600insGTATATATATATATATATATATGTATATAT	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding		4977		chr4	TogoVar
PDS5A_chr4_39817863_39982911	39842909	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA18973.hp1 NA19058.hp1 others(1): Show HG03453.hp2 NA18973.hp1 NA19058.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0023 a0001c0001t0001g0035 a0001c0001t0001g0062 others(1): Show a0001c0001t0001g0023 a0001c0001t0001g0035 a0001c0001t0001g0062 a0001c0001t0014g0039	4	356	0.0112	30	c.354 others(47): Show c.3549-854_3549-853insTATATATATATATATATATATATATATA TA	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	30/32			chr4	TogoVar
PDS5A_chr4_39817863_39982911	39909040	A A	AAAAATAA others(23): Show AAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02300.hp1 NA18961.hp2 NA18962.hp1 HG02300.hp1 NA18961.hp2 NA18962.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0018 a0001c0002t0003 a0001c0002t0018	a0001c0002t0003g0117 a0001c0002t0003g0133 a0001c0002t0018g0125 a0001c0002t0003g0117 a0001c0002t0003g0133 a0001c0002t0018g0125	3	356	0.0084	30	c.108 others(47): Show c.1088-530_1088-501dupATTTTATTTTATTTTATTTTATTTTATT TT	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	10/32			chr4	TogoVar
PDS5B_chr13_32581452_32783019	32655359	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02293.hp2 NA19070.hp1 HG02129.hp2 HG02293.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0019 a0001c0004t0002 a0001c0001t0002 a0001c0001t0019 a0001c0004t0002	a0001c0001t0002g0120 a0001c0001t0019g0116 a0001c0004t0002g0159 a0001c0001t0002g0120 a0001c0001t0019g0116 a0001c0004t0002g0159	3	334	0.0090	30	c.313 others(47): Show c.313-2864_313-2863insATATATATATATATATATATATATATAT AT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02132.hp1 HG03516.hp1 HG01891.hp2 HG02132.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0134 a0001c0001t0004g0319 a0001c0001t0004g0321 a0001c0001t0002g0134 a0001c0001t0004g0319 a0001c0001t0004g0321	3	334	0.0090	30	c.313 others(47): Show c.313-2864_313-2863insATATATATATATATATATATATATATTT TT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATAT others(23): Show ATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	334	0.0030	30	c.313 others(47): Show c.313-2864_313-2863insATATATATATATATATTTTTTTTTTTTT TT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar

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