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
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATAT others(26): Show ATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02622.hp1 HG02572.hp1 HG02622.hp1	a0002 a0013 a0002 a0013	a0002c0003 a0013c0028 a0002c0003 a0013c0028	a0002c0003t0026 a0013c0028t0065 a0002c0003t0026 a0013c0028t0065	a0002c0003t0026g0218 a0013c0028t0065g0224 a0002c0003t0026g0218 a0013c0028t0065g0224	2	328	0.0061	33	c.858 others(50): Show c.858+2796_858+2797insAAAAAAAAAAAAAAATATATATATATAT ATATA	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21			chr5	TogoVar
PDE6B_chr4_620573_675782	656497	A A	AAGGCCGT others(26): Show AAGGCCGTGACCGCGGCCCCCACACACCCCTGCG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0055 a0001c0002t0002g0055	1	308	0.0033	33	c.110 others(50): Show c.1107+285_1108-265dupGGCCCCCACACACCCCTGCGAGGCCGTG ACCGC	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	8/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE6B_chr4_620573_675782	656563	G G	GAGGCCGT others(26): Show GAGGCCGTGACCGCGGCCCCCACACACCCCTGCA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0027 a0001c0001t0012g0027	1	308	0.0033	33	c.110 others(50): Show c.1108-279_1108-278insAAGGCCGTGACCGCGGCCCCCACACACC CCTGC	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	8/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE7A_chr8_65709334_65847064	65798206	A A	ATATATAT others(26): Show ATATATATATATATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0056 a0001c0001t0044g0056	1	248	0.0040	33	c.139 others(52): Show c.139-15364_139-15363insAAAAAAAAAAAAAAAAAAAAATATAT ATATATA	PDE7A	ENSG00000205268.11	transcript	ENST00000401827.8	protein_coding	1/12			chr8	TogoVar
PDE8A_chr15_84976856_85144142	85119468	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	344	0.0029	33	c.173 others(52): Show c.1735-1316_1735-1315insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	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(26): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0302 a0001c0001t0022g0302	1	314	0.0032	33	c.116 others(52): Show c.1168-3198_1168-3197insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	PDE8B	ENSG00000113231.14	transcript	ENST00000264917.10	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDE9A_chr21_42648621_42780509	42653539	A A	AGGGGGGA others(26): Show AGGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01255.hp1 NA20805.hp1 HG01123.hp2 HG01255.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0316 a0001c0002t0001g0315 a0001c0003t0001g0319 a0001c0001t0001g0316 a0001c0002t0001g0315 a0001c0003t0001g0319	3	324	0.0093	33	c.-27 others(42): Show c.-276_-275insGGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAG	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding		81		chr21	TogoVar
PDE9A_chr21_42648621_42780509	42726624	A A	ATATATAT others(26): Show ATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03139.hp1 HG02257.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0233 a0001c0001t0004g0234 a0001c0001t0004g0233 a0001c0001t0004g0234	2	324	0.0062	33	c.263 others(50): Show c.263-5145_263-5144insATATATATATATATATATTTTTTTTTTT TTTTT	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDGFD_chr11_103902189_104169147	104119276	A A	AATATAAT others(26): Show AATATAATATATTGATATAATATATAATATATTG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0195 a0001c0001t0003g0195	1	200	0.0050	33	c.124 others(52): Show c.124+44495_124+44527dupCAATATATTATATATTATATCAATAT ATTATAT	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDGFD_chr11_103902189_104169147	104119404	A A	AATATAAT others(26): Show AATATAATATATTGATATAATATATAATATATTG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	200	0.0050	33	c.124 others(52): Show c.124+44367_124+44399dupCAATATATTATATATTATATCAATAT ATTATAT	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDGFRL_chr8_17572216_17648144	17577082	T T	TAAAAAAA others(26): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0326 a0001c0001t0001g0326	1	400	0.0025	33	c.-17 others(42): Show c.-171_-170insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding		133		chr8	TogoVar
PDGFRL_chr8_17572216_17648144	17590236	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA18993.hp1 HG02015.hp2 NA18993.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0097 a0001c0002t0001g0258 a0001c0002t0001g0097 a0001c0002t0001g0258	2	400	0.0050	33	c.353 others(48): Show c.353+491_353+492insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	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(26): Show TCCCCGCCCCCCCCCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0383 a0001c0001t0001g0383	1	400	0.0025	33	c.940 others(48): Show c.940-710_940-709insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC GCC	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDK3_chrX_24460286_24539422	24496568	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	258	0.0039	33	c.248 others(50): Show c.248+1708_248+1709insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	PDK3	ENSG00000067992.17	transcript	ENST00000379162.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PDS5A_chr4_39817863_39982911	39857351	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0287 a0001c0001t0006g0287	1	356	0.0028	33	c.308 others(52): Show c.3086+4867_3086+4868insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	26/32			chr4	TogoVar
PDS5A_chr4_39817863_39982911	39909046	A A	AACATAAC others(26): Show AACATAACATAAAATAAAATAAAATAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02135.hp2 NA19030.hp2 HG02027.hp2 HG02135.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0002 a0001c0002t0023 a0001c0006t0002 a0001c0002t0002 a0001c0002t0023 a0001c0006t0002	a0001c0002t0002g0220 a0001c0002t0023g0227 a0001c0006t0002g0272 a0001c0002t0002g0220 a0001c0002t0023g0227 a0001c0006t0002g0272	3	356	0.0084	33	c.108 others(50): Show c.1088-507_1088-506insATTTTATTTATTTTATTTTATTTTATGT TATGT	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	10/32			chr4	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 NA18993.hp2 NA19240.hp1 HG02970.hp2 NA18993.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0068 a0001c0001t0004g0203 a0001c0001t0004g0320 a0001c0001t0001g0068 a0001c0001t0004g0203 a0001c0001t0004g0320	3	334	0.0090	33	c.313 others(50): Show c.313-2864_313-2863insATATATATATATATATATATATATATAT TTTTT	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(26): Show ATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02071.hp1 HG00408.hp2 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0036 a0001c0001t0001g0027 a0001c0001t0001g0036	2	334	0.0060	33	c.313 others(50): Show c.313-2864_313-2863insATATATATATATATATATTTTTTTTTTT TTTTT	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(26): Show ATATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02273.hp2 HG01255.hp1 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0037 a0001c0001t0001g0026 a0001c0001t0001g0037	2	334	0.0060	33	c.313 others(50): Show c.313-2864_313-2863insATATATATATATATATTTTTTTTTTTTT TTTTT	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(26): Show ATATATATATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	334	0.0030	33	c.313 others(50): Show c.313-2864_313-2863insATATATATATATATTTTTTTTTTTTTTT TTTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATTT others(26): Show ATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	334	0.0030	33	c.313 others(50): Show c.313-2864_313-2863insATATTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32655375	T T	TATATATA others(26): Show TATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG03704.hp1 HG02040.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0048 a0001c0001t0002g0130 a0001c0001t0001g0048 a0001c0001t0002g0130	2	334	0.0060	33	c.313 others(50): Show c.313-2864_313-2863insATATATATATATATATATATATATATAT ATATA	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34			chr13	TogoVar
PDSS1_chr10_26692701_26751798	26693079	T T	TATATATA others(26): Show TATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	416	0.0024	33	c.-46 others(44): Show c.-4633_-4632insATATATATATATATATATATATATATATATATA	PDSS1	ENSG00000148459.16	transcript	ENST00000376215.10	protein_coding		4621		chr10	TogoVar
PDSS1_chr10_26692701_26751798	26704083	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18966.hp1 NA18990.hp2 others(1): Show NA18959.hp1 NA18966.hp1 NA18990.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 others(1): Show a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0214	4	416	0.0096	33	c.163 others(48): Show c.163-575_163-574insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	PDSS1	ENSG00000148459.16	transcript	ENST00000376215.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
PDSS2_chr6_107147562_107464564	107173572	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03209.hp2 HG02895.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0257 a0001c0001t0001g0155 a0001c0001t0001g0257	2	260	0.0077	33	c.104 others(54): Show c.1042-18796_1042-18795insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	7/7			chr6	TogoVar
PDXK_chr21_43714129_43767299	43741150	G G	GGGCGGGG others(26): Show GGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0238 a0001c0001t0009g0238	1	358	0.0028	33	c.143 others(48): Show c.143-497_143-496insCTCGCGGGGGGCTGGCGGGGGGCTCGCGGG GGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741151	G G	GGCGGGGG others(26): Show GGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0109 a0001c0001t0035g0109	1	358	0.0028	33	c.143 others(48): Show c.143-506_143-505insGGCGGGGGGCTCGCGGGGGGCTCGCGGGGG GCT	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741165	G G	GGGGGGCT others(26): Show GGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0234 a0001c0001t0004g0234	1	358	0.0028	33	c.143 others(48): Show c.143-497_143-496insCTCGCGGGGGGCTCGCGGGGGGGCTCGCGG GGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741188	G G	GGGGGGCT others(26): Show GGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02630.hp2 HG01496.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0102 a0001c0001t0004 a0001c0003t0102	a0001c0001t0004g0325 a0001c0003t0102g0012 a0001c0001t0004g0325 a0001c0003t0102g0012	2	358	0.0056	33	c.143 others(48): Show c.143-474_143-473insCTCGCGGGGGGCTCGCGGGGGGGCTCGCGG GGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741234	G G	GGGGGGCT others(26): Show GGGGGGCTGGCGGGGGGGCTCGCGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0062 a0001c0002t0062	a0001c0002t0062g0193 a0001c0002t0062g0193	1	358	0.0028	33	c.143 others(48): Show c.143-428_143-427insCTGGCGGGGGGGCTCGCGGGGGGCTCGCGG GGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741280	G G	GGGGGGCT others(26): Show GGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0082 a0001c0002t0003g0082	1	358	0.0028	33	c.143 others(48): Show c.143-382_143-381insCTCGCGGGGGGGCTCGCGGGGGGCTCGCGG GGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741338	G G	GGGGGGCT others(26): Show GGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0310 a0001c0001t0001g0310	1	358	0.0028	33	c.143 others(48): Show c.143-324_143-323insCTCGCGGGGGGCTCGCGGGGGGGCTCGCGG GGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741338	G G	GGGGGGCT others(26): Show GGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0279 a0001c0001t0002g0279	1	358	0.0028	33	c.143 others(48): Show c.143-324_143-323insCTCGCGGGGGGGCTCGCGGGGGGCTCGCGG GGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741338	G G	GGGGGGGC others(26): Show GGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0143 a0001c0002t0018g0143	1	358	0.0028	33	c.143 others(48): Show c.143-312_143-311insCTCGCGGGGGGCTCGCGGGGGGCTCGCGGG GGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741394	C C	CAGGGGGG others(26): Show CAGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0186 a0001c0001t0007g0187 a0001c0001t0007g0186 a0001c0001t0007g0187	2	358	0.0056	33	c.143 others(48): Show c.143-273_143-272insAGGGGGGCTCGCGGGGGGCTGGCGGGGGGC TCG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10			chr21	TogoVar
PDXK_chr21_43714129_43767299	43741395	G G	GGGGGGCT others(26): Show GGGGGGCTCGCAGGGGGGCTCGCGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG03490.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0133 a0001c0001t0002g0207 a0001c0001t0002g0133 a0001c0001t0002g0207	2	358	0.0056	33	c.143 others(48): Show c.143-267_143-266insCTCGCAGGGGGGCTCGCGGGGGGCTCGCGG GGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741395	G G	GGGGGGCT others(26): Show GGGGGGCTCGCAGGGGGGCTCGCGGGGGGCTGGC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0080 a0001c0001t0080	a0001c0001t0080g0177 a0001c0001t0080g0177	1	358	0.0028	33	c.143 others(48): Show c.143-267_143-266insCTCGCAGGGGGGCTCGCGGGGGGCTGGCGG GGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741395	G G	GGGGGGCT others(26): Show GGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02155.hp2 HG02027.hp1 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0100 a0001c0001t0035 a0001c0001t0100	a0001c0001t0035g0109 a0001c0001t0100g0104 a0001c0001t0035g0109 a0001c0001t0100g0104	2	358	0.0056	33	c.143 others(48): Show c.143-267_143-266insCTCGCGGGGGGCTCGCGGGGGGCTCGCAGG GGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741407	G G	GGGGGGCT others(26): Show GGGGGGCTCGCGGGGGGCTCGCAGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0094 a0001c0001t0094	a0001c0001t0094g0231 a0001c0001t0094g0231	1	358	0.0028	33	c.143 others(48): Show c.143-255_143-254insCTCGCGGGGGGCTCGCAGGGGGGCTCGCGG GGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741407	G G	GGGGGGCT others(26): Show GGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0081 a0001c0002t0003g0081	1	358	0.0028	33	c.143 others(48): Show c.143-255_143-254insCTCGCGGGGGGCTCGCGGGGGGGCTCGCGG GGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741419	G G	GGGGGGCT others(26): Show GGGGGGCTGGCGGGGGGGCTCGCGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG03669.hp1 NA18969.hp1 others(2): Show HG00597.hp1 HG03669.hp1 NA18969.hp1 NA19062.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0018 a0001c0002t0003 a0001c0001t0001 a0001c0001t0018 a0001c0002t0003	a0001c0001t0001g0240 a0001c0001t0018g0110 a0001c0002t0003g0010 others(2): Show a0001c0001t0001g0240 a0001c0001t0018g0110 a0001c0002t0003g0010 a0001c0002t0003g0018 a0001c0002t0003g0078	5	358	0.0140	33	c.143 others(48): Show c.143-243_143-242insCTGGCGGGGGGGCTCGCGGGGGGCTCGCGG GGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741442	G G	GGGGGGCT others(26): Show GGGGGGCTCGCAGGGGGGCTCGCGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0235 a0001c0003t0008g0235	1	358	0.0028	33	c.143 others(48): Show c.143-220_143-219insCTCGCAGGGGGGCTCGCGGGGGGCTCGCGG GGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741442	G G	GGGGGGCT others(26): Show GGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0239 a0001c0001t0005g0239	1	358	0.0028	33	c.143 others(48): Show c.143-220_143-219insCTCGCGGGGGGCTCGCGGGGGGCTCGCAGG GGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDZD7_chr10_101002679_101036129	101019542	G G	GCCTCCTC others(26): Show GCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02886.hp2 NA19030.hp2 HG00639.hp1 HG02886.hp2 NA19030.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0003c0003t0004 a0002c0002t0002 a0003c0003t0004	a0002c0002t0002g0385 a0003c0003t0004g0305 a0003c0003t0004g0398 a0002c0002t0002g0385 a0003c0003t0004g0305 a0003c0003t0004g0398	3	432	0.0069	33	c.929 others(48): Show c.929-358_929-326dupAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG AGG	PDZD7	ENSG00000186862.20	transcript	ENST00000619208.6	protein_coding	7/16			chr10	TogoVar
PEBP4_chr8_22708251_22932914	22765948	C C	CTGTGGAT others(26): Show CTGTGGATCACCACCATTCATGGATCACCACCTG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01257.hp2 HG01516.hp2 others(4): Show HG00280.hp2 HG01257.hp2 HG01516.hp2 HG01517.hp2 HG01952.hp2 HG04115.hp2 NA18964.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0003 a0003c0011 others(1): Show a0001c0001 a0003c0003 a0003c0011 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0003c0003t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0003c0003t0003 a0003c0011t0006 a0004c0004t0003 a0004c0004t0004	a0001c0001t0001g0051 a0001c0001t0002g0215 a0003c0003t0003g0136 others(4): Show a0001c0001t0001g0051 a0001c0001t0002g0215 a0003c0003t0003g0136 a0003c0011t0006g0005 a0004c0004t0003g0054 a0004c0004t0003g0137 a0004c0004t0004g0188	7	278	0.0252	33	c.358 others(52): Show c.358-38729_358-38728insCAGGTGGTGATCCATGAATGGTGGTG ATCCACA	PEBP4	ENSG00000134020.8	transcript	ENST00000256404.8	protein_coding	4/6			chr8	TogoVar
PEDS1_chr20_50113254_50158723	50118760	C C	CAGGCACC others(26): Show CAGGCACCTGCCACCACACCCAGCTAATTATTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0279 a0001c0001t0069g0279	1	366	0.0027	33	c.62 others(44): Show c.6297_*6298insAAAATAATTAGCTGGGTGTGGTGGCAGGTGCCT	PEDS1	ENSG00000240849.11	transcript	ENST00000371652.9	protein_coding	6/6	6297		chr20	TogoVar
PEF1_chr1_31624866_31649876	31638802	A A	ATGAAGAA others(26): Show ATGAAGAAACTAAGCCACGGAGCTGTTAAAGGAC	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0104 a0001c0002t0001g0104	1	346	0.0029	33	c.25- others(48): Show c.25-3313_25-3281dupGTCCTTTAACAGCTCCGTGGCTTAGTTTCT TCA	PEF1	ENSG00000162517.13	transcript	ENST00000373703.5	protein_coding	1/4			chr1	TogoVar
PER3_chr1_7779291_7850177	7806812	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0127 a0001c0003t0001g0127	1	410	0.0024	33	c.113 others(52): Show c.1137-2080_1137-2079insAAAAAAAAAAATATATATATATATAT ATATATA	PER3	ENSG00000049246.15	transcript	ENST00000377532.8	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
PER3_chr1_7779291_7850177	7815991	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0062 a0001c0003t0001g0062	1	410	0.0024	33	c.152 others(52): Show c.1523-3268_1523-3267insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	PER3	ENSG00000049246.15	transcript	ENST00000377532.8	protein_coding	13/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
PERM1_chr1_970198_987093	976970	G G	GCCAACCC others(26): Show GCCAACCCCGGGAACCGCCTCCCACTCCCCCCAC	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0005 a0005c0006t0005	a0005c0006t0005g0211 a0005c0006t0005g0211	1	408	0.0025	33	c.215 others(50): Show c.2150-347_2150-346insGTGGGGGGAGTGGGAGGCGGTTCCCGGG GTTGG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar

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