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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⚠️ 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
PDE9A_chr21_42648621_42780509	42726624	A A	ATTTTTTT others(2): Show ATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00738.hp2 HG01109.hp1 others(10): Show HG00673.hp2 HG00738.hp2 HG01109.hp1 HG01433.hp2 HG02523.hp2 HG03490.hp1 HG03669.hp1 NA18951.hp1 NA18973.hp1 NA18978.hp1 NA19068.hp1 NA19085.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0005c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0005c0011t0001	a0001c0001t0001g0038 a0001c0001t0001g0057 a0001c0001t0001g0071 others(10): Show a0001c0001t0001g0038 a0001c0001t0001g0057 a0001c0001t0001g0071 a0001c0001t0001g0201 a0001c0001t0002g0052 a0001c0001t0002g0155 a0001c0001t0003g0019 a0001c0002t0001g0004 a0001c0003t0001g0056 a0001c0003t0001g0091 a0001c0003t0002g0130 a0001c0003t0003g0017 a0005c0011t0001g0094	13	324	0.0401	9	c.263 others(26): Show c.263-5137_263-5129dupTTTTTTTTT	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDGFA_chr7_492258_524846	499720	T T	TCCCCCCC others(2): Show TCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00423.hp1 others(30): Show HG00099.hp2 HG00280.hp1 HG00423.hp1 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00741.hp2 HG01109.hp1 HG01258.hp2 HG01358.hp2 HG01981.hp1 HG02015.hp1 HG02132.hp1 HG02257.hp1 HG02559.hp2 HG02572.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02970.hp2 HG03471.hp1 HG03516.hp1 HG03927.hp2 NA18906.hp1 NA18966.hp2 NA19043.hp1 NA19074.hp1 NA19082.hp2 NA19240.hp1 NA20752.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(22): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0018 a0001c0001t0027 a0001c0001t0032 a0001c0001t0034 a0001c0001t0037 a0001c0001t0043 a0001c0001t0068 a0001c0001t0087 a0001c0001t0090 a0001c0001t0102 a0001c0001t0103 a0001c0001t0108 a0001c0001t0109 a0001c0001t0112 a0001c0001t0125 a0001c0001t0135 a0001c0002t0001 a0001c0003t0015	a0001c0001t0001g0201 a0001c0001t0001g0220 a0001c0001t0001g0256 others(30): Show a0001c0001t0001g0201 a0001c0001t0001g0220 a0001c0001t0001g0256 a0001c0001t0003g0110 a0001c0001t0005g0162 a0001c0001t0007g0199 a0001c0001t0007g0246 a0001c0001t0009g0191 a0001c0001t0009g0284 a0001c0001t0009g0292 a0001c0001t0011g0288 a0001c0001t0011g0296 a0001c0001t0012g0161 a0001c0001t0012g0239 a0001c0001t0018g0235 a0001c0001t0027g0093 a0001c0001t0032g0261 a0001c0001t0032g0287 a0001c0001t0034g0282 a0001c0001t0037g0236 a0001c0001t0043g0277 a0001c0001t0068g0102 a0001c0001t0087g0145 a0001c0001t0090g0194 a0001c0001t0102g0182 a0001c0001t0103g0242 a0001c0001t0108g0173 a0001c0001t0109g0210 a0001c0001t0112g0192 a0001c0001t0125g0238 a0001c0001t0135g0297 a0001c0002t0001g0233 a0001c0003t0015g0120	33	302	0.1093	9	c.581 others(26): Show c.581-1155_581-1147dupGGGGGGGGG	PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding	5/5			chr7	TogoVar
PDGFA_chr7_492258_524846	506175	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00544.hp2 others(61): Show HG00099.hp1 HG00323.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG01069.hp1 HG01074.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01496.hp1 HG01517.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02165.hp1 HG02273.hp1 HG02293.hp1 HG02523.hp1 HG02622.hp1 HG02717.hp1 HG03239.hp2 HG03927.hp1 HG04184.hp2 HG04228.hp1 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18945.hp1 NA18947.hp2 NA18950.hp1 NA18952.hp2 NA18953.hp1 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18983.hp1 NA18983.hp2 NA19003.hp2 NA19004.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19057.hp1 NA19062.hp1 NA19064.hp1 NA19070.hp2 NA19074.hp2 NA19079.hp2 NA19081.hp2 NA19084.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(24): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0023 a0001c0001t0030 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0075 a0001c0001t0080 a0001c0001t0128 a0001c0001t0129 a0001c0001t0130 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0002t0008 a0001c0002t0010 a0001c0002t0021 a0001c0002t0030 a0001c0002t0038 a0001c0002t0070 a0001c0002t0076 a0001c0002t0077 a0001c0002t0078 a0001c0002t0079 a0001c0002t0119	a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0004g0059 others(60): Show a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0004g0059 a0001c0001t0004g0083 a0001c0001t0004g0130 a0001c0001t0006g0063 a0001c0001t0006g0128 a0001c0001t0023g0200 a0001c0001t0030g0060 a0001c0001t0041g0214 a0001c0001t0041g0216 a0001c0001t0042g0222 a0001c0001t0043g0277 a0001c0001t0043g0278 a0001c0001t0075g0023 a0001c0001t0080g0082 a0001c0001t0128g0229 a0001c0001t0129g0203 a0001c0001t0130g0158 a0001c0002t0002g0014 a0001c0002t0002g0026 a0001c0002t0002g0036 a0001c0002t0002g0039 a0001c0002t0002g0043 a0001c0002t0002g0047 a0001c0002t0002g0050 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0069 a0001c0002t0002g0124 a0001c0002t0002g0129 a0001c0002t0002g0142 a0001c0002t0004g0028 a0001c0002t0004g0029 a0001c0002t0004g0067 a0001c0002t0004g0081 a0001c0002t0004g0101 a0001c0002t0004g0123 a0001c0002t0006g0030 a0001c0002t0006g0038 a0001c0002t0006g0044 a0001c0002t0006g0046 a0001c0002t0006g0051 a0001c0002t0006g0091 a0001c0002t0006g0099 a0001c0002t0008g0027 a0001c0002t0008g0055 a0001c0002t0008g0070 a0001c0002t0008g0076 a0001c0002t0008g0077 a0001c0002t0008g0097 a0001c0002t0010g0031 a0001c0002t0010g0042 a0001c0002t0010g0080 a0001c0002t0021g0168 a0001c0002t0030g0049 a0001c0002t0038g0003 a0001c0002t0070g0048 a0001c0002t0076g0126 a0001c0002t0077g0040 a0001c0002t0078g0041 a0001c0002t0079g0068 a0001c0002t0119g0270	64	302	0.2119	9	c.453 others(26): Show c.453+4625_453+4633dupTTTTTTTTT	PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding	4/5			chr7	TogoVar
PDGFA_chr7_492258_524846	508559	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00673.hp2 HG01074.hp1 others(18): Show HG00099.hp1 HG00673.hp2 HG01074.hp1 HG01496.hp1 HG01515.hp1 HG01517.hp1 HG02015.hp2 HG02165.hp2 HG02523.hp1 HG03239.hp2 HG04228.hp1 NA18944.hp2 NA18948.hp1 NA18952.hp2 NA18963.hp1 NA18971.hp1 NA18999.hp1 NA19012.hp2 NA19057.hp1 NA19062.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0002 a0001c0002t0004 others(9): Show a0001c0001t0004 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0002t0008 a0001c0002t0010 a0001c0002t0021 a0001c0002t0030 a0001c0002t0038 a0001c0002t0046 a0001c0002t0079 a0001c0002t0119	a0001c0001t0004g0059 a0001c0002t0002g0032 a0001c0002t0002g0069 others(17): Show a0001c0001t0004g0059 a0001c0002t0002g0032 a0001c0002t0002g0069 a0001c0002t0004g0028 a0001c0002t0004g0067 a0001c0002t0004g0127 a0001c0002t0006g0030 a0001c0002t0006g0046 a0001c0002t0006g0051 a0001c0002t0006g0098 a0001c0002t0008g0027 a0001c0002t0008g0076 a0001c0002t0010g0033 a0001c0002t0010g0080 a0001c0002t0021g0167 a0001c0002t0030g0049 a0001c0002t0038g0003 a0001c0002t0046g0007 a0001c0002t0079g0068 a0001c0002t0119g0270	21	302	0.0695	9	c.453 others(26): Show c.453+2241_453+2249dupTTTTTTTTT	PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding	4/5			chr7	TogoVar
PDGFC_chr4_156755454_156976799	156825575	T T	TAAGAAGA others(2): Show TAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG04199.hp1 NA18977.hp2 HG04199.hp1 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0159 a0001c0001t0002g0020 a0001c0001t0001g0159 a0001c0001t0002g0020	2	208	0.0096	9	c.315 others(28): Show c.315-14559_315-14558insCTTCTTCTT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	2/5			chr4	TogoVar
PDGFC_chr4_156755454_156976799	156825584	T T	TAAGAAGA others(2): Show TAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG01358.hp2 NA18952.hp1 NA18989.hp2 HG01358.hp2 NA18952.hp1 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0112 a0001c0001t0001g0130 a0001c0001t0002g0094 a0001c0001t0001g0112 a0001c0001t0001g0130 a0001c0001t0002g0094	3	208	0.0144	9	c.315 others(28): Show c.315-14568_315-14567insCTTCTTCTT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	2/5			chr4	TogoVar
PDGFC_chr4_156755454_156976799	156825587	T T	TAAGAAGA others(2): Show TAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA18964.hp1 NA18972.hp1 HG02559.hp1 NA18964.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0006 a0001c0001t0001 a0001c0002t0006	a0001c0001t0001g0019 a0001c0001t0001g0065 a0001c0002t0006g0038 a0001c0001t0001g0019 a0001c0001t0001g0065 a0001c0002t0006g0038	3	208	0.0144	9	c.315 others(28): Show c.315-14571_315-14570insCTTCTTCTT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	2/5			chr4	TogoVar
PDGFC_chr4_156755454_156976799	156825590	T T	TAAGAAGA others(2): Show TAAGAAGAAG	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19056.hp1 NA19066.hp2 NA19002.hp2 NA19056.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0002 a0001c0001t0005 a0001c0002t0002	a0001c0001t0005g0114 a0001c0002t0002g0046 a0001c0002t0002g0100 a0001c0001t0005g0114 a0001c0002t0002g0046 a0001c0002t0002g0100	3	208	0.0144	9	c.315 others(28): Show c.315-14574_315-14573insCTTCTTCTT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	2/5			chr4	TogoVar
PDGFC_chr4_156755454_156976799	156903125	G G	GTGTGTGT others(2): Show GTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02040.hp1 HG03239.hp2 others(10): Show HG02015.hp2 HG02040.hp1 HG03239.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA19002.hp1 NA19002.hp2 NA19062.hp2 NA19070.hp1 NA19079.hp2 NA19084.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0002	a0001c0001t0001g0014 a0001c0001t0001g0074 a0001c0001t0001g0078 others(10): Show a0001c0001t0001g0014 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0112 a0001c0001t0002g0060 a0001c0001t0005g0113 a0001c0001t0005g0114 a0001c0002t0002g0050 a0001c0002t0002g0066 a0001c0002t0002g0069 a0001c0002t0002g0071 a0001c0002t0002g0095 a0001c0002t0002g0096	13	208	0.0625	9	c.119 others(28): Show c.119-52710_119-52709insACACACACA	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	1/5			chr4	TogoVar
PDGFC_chr4_156755454_156976799	156914881	G G	GGGAAAGT others(2): Show GGGAAAGTCT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00438.hp1 others(112): Show HG00280.hp1 HG00280.hp2 HG00438.hp1 HG00621.hp1 HG00639.hp1 HG00741.hp2 HG01069.hp1 HG01081.hp2 HG01099.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01192.hp1 HG01358.hp1 HG01515.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp2 HG01975.hp2 HG02015.hp1 HG02040.hp2 HG02080.hp1 HG02129.hp1 HG02155.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG03710.hp2 HG03831.hp2 HG03942.hp1 HG04184.hp2 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18942.hp1 NA18950.hp1 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18961.hp2 NA18964.hp1 NA18967.hp1 NA18967.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp2 NA18998.hp2 NA19012.hp2 NA19054.hp1 NA19054.hp2 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19090.hp1 NA19090.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0034 a0001c0002t0002 a0001c0002t0012 a0001c0002t0026 a0001c0002t0033 a0001c0003t0029 a0002c0004t0015	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 others(112): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0049 a0001c0001t0001g0059 a0001c0001t0001g0065 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0174 a0001c0001t0002g0067 a0001c0001t0002g0168 a0001c0001t0002g0178 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0004g0089 a0001c0001t0004g0127 a0001c0001t0004g0128 a0001c0001t0004g0129 a0001c0001t0004g0137 a0001c0001t0004g0170 a0001c0001t0004g0176 a0001c0001t0005g0175 a0001c0001t0007g0185 a0001c0001t0007g0187 a0001c0001t0007g0188 a0001c0001t0007g0201 a0001c0001t0007g0208 a0001c0001t0009g0035 a0001c0001t0009g0172 a0001c0001t0009g0173 a0001c0001t0010g0006 a0001c0001t0010g0008 a0001c0001t0010g0009 a0001c0001t0010g0011 a0001c0001t0011g0091 a0001c0001t0011g0092 a0001c0001t0011g0098 a0001c0001t0012g0181 a0001c0001t0012g0183 a0001c0001t0013g0140 a0001c0001t0015g0027 a0001c0001t0016g0182 a0001c0001t0016g0184 a0001c0001t0017g0001 a0001c0001t0019g0003 a0001c0001t0020g0004 a0001c0001t0023g0013 a0001c0001t0024g0012 a0001c0001t0027g0133 a0001c0001t0028g0085 a0001c0001t0030g0047 a0001c0001t0031g0023 a0001c0001t0032g0010 a0001c0001t0034g0195 a0001c0002t0002g0007 a0001c0002t0002g0115 a0001c0002t0002g0138 a0001c0002t0002g0145 a0001c0002t0002g0146 a0001c0002t0002g0162 a0001c0002t0002g0169 a0001c0002t0012g0180 a0001c0002t0026g0158 a0001c0002t0033g0186 a0001c0003t0029g0177 a0002c0004t0015g0179	115	208	0.5529	9	c.118 others(28): Show c.118+55904_118+55905insAGACTTTCC	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	1/5			chr4	TogoVar
PDGFD_chr11_103902189_104169147	104009429	C C	CATTATTA others(2): Show CATTATTATT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01109.hp2 HG01175.hp2 others(8): Show HG00639.hp2 HG01109.hp2 HG01175.hp2 HG01256.hp1 HG02451.hp2 HG03516.hp1 HG03540.hp1 HG06807.hp2 NA19077.hp1 NA19240.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0006	a0001c0001t0002g0020 a0001c0001t0002g0125 a0001c0001t0003g0112 others(8): Show a0001c0001t0002g0020 a0001c0001t0002g0125 a0001c0001t0003g0112 a0001c0001t0003g0196 a0001c0002t0001g0021 a0001c0002t0001g0047 a0001c0002t0001g0091 a0001c0002t0001g0133 a0001c0002t0001g0167 a0001c0002t0001g0190 a0001c0002t0006g0088	11	200	0.0550	9	c.125 others(26): Show c.125-9183_125-9175dupAATAATAAT	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDGFD_chr11_103902189_104169147	104099636	C C	CAATAATA others(2): Show CAATAATAAT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG03195.hp1 HG03486.hp2 others(1): Show HG02040.hp1 HG03195.hp1 HG03486.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0002t0013 a0001c0001t0002 a0001c0002t0001 a0001c0002t0013	a0001c0001t0002g0068 a0001c0002t0001g0136 a0001c0002t0001g0194 others(1): Show a0001c0001t0002g0068 a0001c0002t0001g0136 a0001c0002t0001g0194 a0001c0002t0013g0069	4	200	0.0200	9	c.124 others(28): Show c.124+64159_124+64167dupATTATTATT	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDGFRL_chr8_17572216_17648144	17579556	G G	GTTATTAT others(2): Show GTTATTATTA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01515.hp2 HG01978.hp2 others(7): Show HG00621.hp2 HG01515.hp2 HG01978.hp2 HG02683.hp2 NA18747.hp2 NA18940.hp1 NA18942.hp2 NA18952.hp1 NA18997.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(7): Show a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0002g0071 a0001c0002t0001g0066 a0001c0002t0001g0070 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0340	10	400	0.0250	9	c.55+ others(24): Show c.55+2270_55+2278dupATTATTATT	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDHA1_chrX_19338927_19366718	19341295	C C	CAAAAAAA others(2): Show CAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01361.hp2 HG02451.hp2 others(2): Show HG01106.hp1 HG01361.hp2 HG02451.hp2 HG02723.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0006 a0001c0002t0002 a0001c0002t0006	a0001c0002t0002g0040 a0001c0002t0002g0046 a0001c0002t0006g0045 others(2): Show a0001c0002t0002g0040 a0001c0002t0002g0046 a0001c0002t0006g0045 a0001c0002t0006g0049 a0001c0002t0006g0051	5	247	0.0202	9	c.-27 others(20): Show c.-2743_-2742insAAAAAAAAA	PDHA1	ENSG00000131828.14	transcript	ENST00000422285.7	protein_coding		2631		chrX	TogoVar
PDHA1_chrX_19338927_19366718	19364893	C C	CAAAAAAA others(2): Show CAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02615.hp2 HG02818.hp2 others(4): Show HG02055.hp1 HG02615.hp2 HG02818.hp2 HG02922.hp1 HG03041.hp2 HG03540.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0019 a0001c0002t0002 a0001c0002t0019	a0001c0002t0002g0006 a0001c0002t0002g0016 a0001c0002t0002g0036 others(3): Show a0001c0002t0002g0006 a0001c0002t0002g0016 a0001c0002t0002g0036 a0001c0002t0002g0038 a0001c0002t0002g0041 a0001c0002t0019g0139	7	247	0.0283	9	c.52 others(20): Show c.5240_*5241insAAAAAAAAA	PDHA1	ENSG00000131828.14	transcript	ENST00000422285.7	protein_coding		3176		chrX	TogoVar
PDHX_chr11_34911618_35001128	34936784	T T	TTTTCTTT others(2): Show TTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03704.hp1 HG04199.hp1 others(3): Show HG00735.hp2 HG03704.hp1 HG04199.hp1 NA18940.hp2 NA18948.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0057 a0001c0001t0001g0080 others(3): Show a0001c0001t0001g0047 a0001c0001t0001g0057 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0105 a0001c0001t0001g0112	6	314	0.0191	9	c.241 others(26): Show c.241+5303_241+5304insCTTTTCTTT	PDHX	ENSG00000110435.13	transcript	ENST00000227868.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
PDIA2_chr16_278164_292215	282903	T T	TCCCCTGC others(2): Show TCCCCTGCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG02273.hp1 HG02723.hp2 others(6): Show HG00099.hp2 HG02273.hp1 HG02723.hp2 HG03041.hp1 HG03195.hp2 HG03669.hp1 NA18995.hp1 NA19030.hp2 NA19075.hp2	a0001 a0006 a0007 others(1): Show a0001 a0006 a0007 a0008	a0001c0001 a0006c0013 a0007c0022 others(1): Show a0001c0001 a0006c0013 a0007c0022 a0008c0007	a0001c0001t0001 a0006c0013t0001 a0007c0022t0001 others(1): Show a0001c0001t0001 a0006c0013t0001 a0007c0022t0001 a0008c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0038 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0038 a0001c0001t0001g0091 a0001c0001t0001g0114 a0006c0013t0001g0034 a0007c0022t0001g0126 a0008c0007t0001g0138	9	436	0.0206	9	c.-26 others(18): Show c.-267_-266insCCCCTGCTG	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding		260		chr16	TogoVar
PDIA2_chr16_278164_292215	289743	G G	GCCCGCTG others(2): Show GCCCGCTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02896.hp1 HG03516.hp1 HG02572.hp2 HG02896.hp1 HG03516.hp1	a0006 a0014 a0006 a0014	a0006c0014 a0014c0021 a0006c0014 a0014c0021	a0006c0014t0001 a0014c0021t0001 a0006c0014t0001 a0014c0021t0001	a0006c0014t0001g0147 a0014c0021t0001g0031 a0006c0014t0001g0147 a0014c0021t0001g0031	3	436	0.0069	9	c.26 others(20): Show c.2630_*2631insCCCGCTGCC	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding		2529		chr16	TogoVar
PDIA3_chr15_43741438_43778278	43750060	A A	AGCTTGCT others(2): Show AGCTTGCTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00408.hp1 others(293): Show HG00099.hp2 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01981.hp1 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19058.hp1 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0009 a0002c0005 a0005c0008	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(19): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0002t0001 a0001c0002t0007 a0001c0002t0011 a0001c0002t0012 a0001c0003t0002 a0001c0004t0001 a0001c0004t0002 a0001c0007t0003 a0001c0009t0002 a0002c0005t0001 a0005c0008t0001	a0001c0001t0002g0019 a0001c0001t0002g0034 a0001c0001t0002g0047 others(184): Show a0001c0001t0002g0019 a0001c0001t0002g0034 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0158 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0003g0002 a0001c0001t0003g0007 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0028 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0045 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0209 a0001c0001t0003g0211 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0004g0018 a0001c0001t0004g0040 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0043 a0001c0001t0004g0044 a0001c0001t0005g0002 a0001c0001t0005g0050 a0001c0001t0005g0197 a0001c0001t0006g0014 a0001c0001t0006g0181 a0001c0001t0006g0182 a0001c0001t0008g0029 a0001c0001t0009g0165 a0001c0001t0009g0166 a0001c0001t0010g0002 a0001c0001t0013g0210 a0001c0001t0014g0205 a0001c0001t0015g0208 a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0006 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0011 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0046 a0001c0002t0001g0068 a0001c0002t0001g0075 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0082 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0007g0076 a0001c0002t0007g0077 a0001c0002t0007g0081 a0001c0002t0007g0083 a0001c0002t0011g0117 a0001c0002t0012g0026 a0001c0003t0002g0012 a0001c0003t0002g0013 a0001c0003t0002g0017 a0001c0003t0002g0035 a0001c0003t0002g0036 a0001c0003t0002g0037 a0001c0003t0002g0038 a0001c0003t0002g0160 a0001c0003t0002g0161 a0001c0003t0002g0162 a0001c0004t0001g0141 a0001c0004t0001g0143 a0001c0004t0001g0147 a0001c0004t0002g0010 a0001c0004t0002g0140 a0001c0004t0002g0146 a0001c0004t0002g0148 a0001c0004t0002g0149 a0001c0007t0003g0213 a0001c0009t0002g0142 a0002c0005t0001g0004 a0005c0008t0001g0159	296	358	0.8268	9	c.167 others(26): Show c.167+3364_167+3372dupGCTTGCTTT	PDIA3	ENSG00000167004.14	transcript	ENST00000300289.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
PDIA5_chr3_123062025_123167104	123101906	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02293.hp1 HG03225.hp1 others(3): Show HG01106.hp1 HG02293.hp1 HG03225.hp1 NA19030.hp2 NA19084.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0017 a0001c0001t0001g0169 a0001c0001t0001g0183 others(3): Show a0001c0001t0001g0017 a0001c0001t0001g0169 a0001c0001t0001g0183 a0001c0001t0001g0313 a0001c0002t0001g0175 a0001c0002t0001g0250	6	332	0.0181	9	c.258 others(24): Show c.258-492_258-484dupTTTTTTTTT	PDIA5	ENSG00000065485.20	transcript	ENST00000316218.12	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
PDIA6_chr2_10778391_10817785	10803505	C C	CACATTAT others(2): Show CACATTATCA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00408.hp2 others(136): Show HG00280.hp1 HG00323.hp1 HG00408.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02040.hp1 HG02040.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02155.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG03017.hp1 HG03195.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18943.hp1 NA18945.hp1 NA18945.hp2 NA18950.hp2 NA18951.hp1 NA18957.hp2 NA18960.hp2 NA18964.hp1 NA18965.hp1 NA18969.hp1 NA18971.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18980.hp2 NA18984.hp2 NA18989.hp1 NA18993.hp1 NA18993.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19002.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19012.hp2 NA19030.hp2 NA19054.hp1 NA19057.hp2 NA19060.hp2 NA19064.hp2 NA19070.hp1 NA19074.hp2 NA19079.hp2 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0003 a0001c0005 a0002c0002 others(4): Show a0001c0003 a0001c0005 a0002c0002 a0002c0006 a0002c0009 a0004c0008 a0005c0010	a0001c0003t0001 a0001c0003t0006 a0001c0003t0008 others(9): Show a0001c0003t0001 a0001c0003t0006 a0001c0003t0008 a0001c0003t0016 a0001c0005t0003 a0002c0002t0001 a0002c0002t0006 a0002c0002t0007 a0002c0006t0001 a0002c0009t0001 a0004c0008t0001 a0005c0010t0001	a0001c0003t0001g0019 a0001c0003t0001g0020 a0001c0003t0001g0021 others(129): Show a0001c0003t0001g0019 a0001c0003t0001g0020 a0001c0003t0001g0021 a0001c0003t0001g0136 a0001c0003t0001g0137 a0001c0003t0001g0204 a0001c0003t0001g0229 a0001c0003t0001g0234 a0001c0003t0001g0235 a0001c0003t0001g0236 a0001c0003t0001g0237 a0001c0003t0001g0238 a0001c0003t0001g0239 a0001c0003t0001g0240 a0001c0003t0001g0241 a0001c0003t0001g0242 a0001c0003t0001g0243 a0001c0003t0001g0244 a0001c0003t0001g0245 a0001c0003t0001g0246 a0001c0003t0001g0247 a0001c0003t0001g0248 a0001c0003t0001g0249 a0001c0003t0001g0250 a0001c0003t0001g0251 a0001c0003t0006g0294 a0001c0003t0006g0295 a0001c0003t0008g0022 a0001c0003t0008g0252 a0001c0003t0016g0297 a0001c0005t0003g0011 a0001c0005t0003g0018 a0001c0005t0003g0138 a0001c0005t0003g0139 a0001c0005t0003g0140 a0001c0005t0003g0141 a0001c0005t0003g0142 a0001c0005t0003g0143 a0001c0005t0003g0144 a0001c0005t0003g0145 a0001c0005t0003g0146 a0001c0005t0003g0147 a0001c0005t0003g0148 a0001c0005t0003g0149 a0001c0005t0003g0150 a0001c0005t0003g0151 a0001c0005t0003g0254 a0001c0005t0003g0255 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0193 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0006g0291 a0002c0002t0006g0292 a0002c0002t0006g0293 a0002c0002t0007g0152 a0002c0002t0007g0153 a0002c0002t0007g0154 a0002c0002t0007g0155 a0002c0006t0001g0215 a0002c0006t0001g0253 a0002c0009t0001g0192 a0004c0008t0001g0220 a0005c0010t0001g0194	139	342	0.4064	9	c.20- others(22): Show c.20-874_20-866dupTGATAATGT	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PDIA6_chr2_10778391_10817785	10803911	G G	GTTTTTTT others(2): Show GTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00558.hp1 others(64): Show HG00323.hp1 HG00408.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01175.hp1 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG01433.hp1 HG01515.hp1 HG01517.hp2 HG01934.hp1 HG01975.hp2 HG02040.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02155.hp1 HG02165.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02698.hp1 HG02735.hp2 HG02738.hp2 HG03017.hp1 HG03239.hp2 HG03490.hp1 HG03688.hp2 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG04184.hp2 HG04204.hp1 NA18943.hp1 NA18945.hp1 NA18950.hp2 NA18957.hp2 NA18960.hp2 NA18969.hp1 NA18971.hp1 NA18973.hp2 NA18979.hp1 NA18993.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19004.hp2 NA19005.hp1 NA19054.hp1 NA19057.hp2 NA19074.hp2 NA20300.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0003 a0001c0005 a0002c0002 others(3): Show a0001c0003 a0001c0005 a0002c0002 a0002c0006 a0002c0009 a0004c0008	a0001c0003t0001 a0001c0003t0006 a0001c0005t0003 others(5): Show a0001c0003t0001 a0001c0003t0006 a0001c0005t0003 a0002c0002t0001 a0002c0002t0007 a0002c0006t0001 a0002c0009t0001 a0004c0008t0001	a0001c0003t0001g0019 a0001c0003t0001g0020 a0001c0003t0001g0021 others(61): Show a0001c0003t0001g0019 a0001c0003t0001g0020 a0001c0003t0001g0021 a0001c0003t0001g0234 a0001c0003t0001g0235 a0001c0003t0001g0236 a0001c0003t0001g0237 a0001c0003t0001g0240 a0001c0003t0001g0241 a0001c0003t0001g0242 a0001c0003t0001g0244 a0001c0003t0001g0245 a0001c0003t0001g0246 a0001c0003t0001g0247 a0001c0003t0001g0248 a0001c0003t0001g0249 a0001c0003t0001g0250 a0001c0003t0001g0251 a0001c0003t0006g0295 a0001c0005t0003g0255 a0002c0002t0001g0158 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0175 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0190 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0207 a0002c0002t0001g0210 a0002c0002t0001g0213 a0002c0002t0001g0217 a0002c0002t0001g0221 a0002c0002t0001g0224 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0007g0153 a0002c0002t0007g0154 a0002c0002t0007g0155 a0002c0006t0001g0215 a0002c0006t0001g0253 a0002c0009t0001g0192 a0004c0008t0001g0220	67	342	0.1959	9	c.20- others(24): Show c.20-1280_20-1272dupAAAAAAAAA	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PDIA6_chr2_10778391_10817785	10816522	C C	CTTTTTTT others(2): Show CTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02486.hp2 HG02647.hp2 others(3): Show HG02451.hp2 HG02486.hp2 HG02647.hp2 HG02717.hp1 HG03041.hp2 HG03098.hp1	a0001 a0001	a0001c0004 a0001c0012 a0001c0004 a0001c0012	a0001c0004t0002 a0001c0012t0002 a0001c0004t0002 a0001c0012t0002	a0001c0004t0002g0023 a0001c0004t0002g0268 a0001c0004t0002g0269 others(2): Show a0001c0004t0002g0023 a0001c0004t0002g0268 a0001c0004t0002g0269 a0001c0004t0002g0275 a0001c0012t0002g0274	6	342	0.0175	9	c.-38 others(20): Show c.-3827_-3826insAAAAAAAAA	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding		3738		chr2	TogoVar
PDILT_chr16_20354175_20409737	20361205	T T	TTTTTTTT others(2): Show TTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01975.hp1 HG02004.hp1 others(7): Show HG01255.hp2 HG01975.hp1 HG02004.hp1 HG02273.hp2 HG02809.hp1 HG02970.hp2 HG03139.hp1 HG03540.hp1 NA18906.hp1 NA19240.hp2	a0003 a0004 a0006 others(1): Show a0003 a0004 a0006 a0011	a0003c0002 a0004c0006 a0006c0010 others(1): Show a0003c0002 a0004c0006 a0006c0010 a0011c0013	a0003c0002t0001 a0004c0006t0001 a0006c0010t0001 others(2): Show a0003c0002t0001 a0004c0006t0001 a0006c0010t0001 a0011c0013t0001 a0011c0013t0002	a0003c0002t0001g0069 a0003c0002t0001g0279 a0003c0002t0001g0306 others(7): Show a0003c0002t0001g0069 a0003c0002t0001g0279 a0003c0002t0001g0306 a0003c0002t0001g0314 a0004c0006t0001g0083 a0006c0010t0001g0155 a0006c0010t0001g0159 a0006c0010t0001g0388 a0011c0013t0001g0126 a0011c0013t0002g0021	10	406	0.0246	9	c.141 others(26): Show c.1417-549_1417-548insCAAAAAAAA	PDILT	ENSG00000169340.10	transcript	ENST00000302451.9	protein_coding	10/11			chr16	TogoVar
PDK1_chr2_172551090_172613669	172605368	A A	ATTTTTTT others(2): Show ATTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01433.hp2 HG02738.hp2 HG02897.hp2 others(3): Show HG01433.hp2 HG02738.hp2 HG02897.hp2 HG03195.hp1 HG04184.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0094 a0001c0002t0025 a0001c0002t0089 others(1): Show a0001c0001t0094 a0001c0002t0025 a0001c0002t0089 a0001c0002t0093	a0001c0001t0094g0008 a0001c0002t0025g0041 a0001c0002t0025g0052 others(3): Show a0001c0001t0094g0008 a0001c0002t0025g0041 a0001c0002t0025g0052 a0001c0002t0025g0063 a0001c0002t0089g0047 a0001c0002t0093g0061	6	342	0.0175	9	c.94 others(20): Show c.9415_*9423dupTTTTTTTTT	PDK1	ENSG00000152256.14	transcript	ENST00000282077.8	protein_coding	11/11	9424	INFO_REALIGN_3_PRIME	chr2	TogoVar
PDK3_chrX_24460286_24539422	24465305	T T	TGCTGCTG others(2): Show TGCTGCTGCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02004.hp2 HG02273.hp2 NA18947.hp1 others(3): Show HG02004.hp2 HG02273.hp2 NA18947.hp1 NA18999.hp1 NA19079.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008	a0001c0001t0004g0158 a0001c0001t0004g0159 a0001c0001t0004g0164 others(3): Show a0001c0001t0004g0158 a0001c0001t0004g0159 a0001c0001t0004g0164 a0001c0001t0004g0165 a0001c0001t0007g0047 a0001c0001t0008g0230	6	258	0.0233	9	c.-14 others(18): Show c.-148_-140dupTGCTGCGGC	PDK3	ENSG00000067992.17	transcript	ENST00000379162.9	protein_coding	1/11	139	INFO_REALIGN_3_PRIME	chrX	TogoVar
PDK3_chrX_24460286_24539422	24496568	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	258	0.0039	9	c.248 others(26): Show c.248+1700_248+1708dupTTTTTTTTT	PDK3	ENSG00000067992.17	transcript	ENST00000379162.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PDLIM1_chr10_95232572_95296003	95256986	A A	AGAAAGAA others(2): Show AGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG03540.hp2 HG03927.hp1 others(2): Show HG02735.hp2 HG03540.hp2 HG03927.hp1 NA19086.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0179 a0001c0001t0001g0182 others(2): Show a0001c0001t0001g0115 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0209 a0001c0001t0001g0211	5	338	0.0148	9	c.533 others(26): Show c.533+6877_533+6878insCTTTCTTTC	PDLIM1	ENSG00000107438.9	transcript	ENST00000329399.7	protein_coding	4/6			chr10	TogoVar
PDLIM2_chr8_22575475_22599298	22591298	G G	GACACGTC others(2): Show GACACGTCAC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02258.hp1 HG02572.hp2 others(11): Show HG01099.hp2 HG02258.hp1 HG02572.hp2 HG02886.hp1 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03579.hp2 NA18522.hp1 NA19030.hp1 NA19043.hp2	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0011c0014	a0001c0001t0002 a0001c0002t0002 a0002c0003t0002 others(2): Show a0001c0001t0002 a0001c0002t0002 a0002c0003t0002 a0002c0004t0002 a0011c0014t0006	a0001c0001t0002g0036 a0001c0001t0002g0082 a0001c0001t0002g0087 others(11): Show a0001c0001t0002g0036 a0001c0001t0002g0082 a0001c0001t0002g0087 a0001c0001t0002g0097 a0001c0001t0002g0146 a0001c0001t0002g0250 a0001c0001t0002g0264 a0001c0002t0002g0249 a0001c0002t0002g0257 a0002c0003t0002g0070 a0002c0004t0002g0202 a0002c0004t0002g0222 a0002c0004t0002g0240 a0011c0014t0006g0274	14	380	0.0368	9	c.764 others(24): Show c.764-249_764-248insGTCACACAC	PDLIM2	ENSG00000120913.24	transcript	ENST00000409417.6	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDLIM2_chr8_22575475_22599298	22592038	C C	CATTTTTC others(2): Show CATTTTTCTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(124): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00423.hp2 HG00597.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01069.hp2 HG01071.hp2 HG01109.hp2 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG02055.hp2 HG02080.hp2 HG02135.hp1 HG02145.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA18942.hp1 NA18943.hp2 NA18957.hp2 NA18965.hp1 NA18968.hp1 NA18971.hp1 NA18975.hp1 NA18979.hp2 NA18980.hp2 NA18990.hp2 NA18994.hp2 NA18999.hp2 NA19007.hp2 NA19009.hp1 NA19030.hp2 NA19057.hp1 NA19057.hp2 NA19063.hp2 NA19067.hp2 NA19080.hp1 NA19082.hp2 NA19087.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0007 a0008	a0001c0001 a0001c0002 a0001c0019 others(7): Show a0001c0001 a0001c0002 a0001c0019 a0001c0020 a0002c0003 a0002c0018 a0004c0006 a0004c0009 a0007c0012 a0008c0021	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0019t0001 a0001c0020t0001 a0002c0003t0001 a0002c0003t0002 a0002c0018t0001 a0004c0006t0002 a0004c0009t0001 a0007c0012t0002 a0008c0021t0002	a0001c0001t0001g0005 a0001c0001t0001g0026 a0001c0001t0001g0037 others(104): Show a0001c0001t0001g0005 a0001c0001t0001g0026 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0095 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0114 a0001c0001t0001g0120 a0001c0001t0001g0131 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0266 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0280 a0001c0001t0001g0292 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0016 a0001c0001t0002g0018 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0032 a0001c0001t0002g0034 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0062 a0001c0001t0002g0064 a0001c0001t0002g0068 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0077 a0001c0001t0002g0085 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0121 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0134 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0218 a0001c0001t0002g0223 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0282 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0295 a0001c0002t0001g0206 a0001c0002t0001g0221 a0001c0002t0001g0226 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0238 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0259 a0001c0002t0002g0022 a0001c0002t0002g0031 a0001c0002t0002g0188 a0001c0002t0002g0205 a0001c0002t0002g0212 a0001c0002t0002g0220 a0001c0002t0002g0303 a0001c0002t0002g0305 a0001c0002t0003g0215 a0001c0002t0005g0164 a0001c0019t0001g0229 a0001c0020t0001g0026 a0002c0003t0001g0005 a0002c0003t0001g0267 a0002c0003t0002g0016 a0002c0003t0002g0019 a0002c0003t0002g0110 a0002c0003t0002g0128 a0002c0003t0002g0135 a0002c0003t0002g0152 a0002c0018t0001g0228 a0004c0006t0002g0251 a0004c0009t0001g0301 a0007c0012t0002g0049 a0007c0012t0002g0051 a0008c0021t0002g0003	127	380	0.3342	9	c.881 others(24): Show c.881+380_881+388dupATTTTTCTT	PDLIM2	ENSG00000120913.24	transcript	ENST00000409417.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDLIM5_chr4_94446942_94673223	94478888	G G	GTGTTTTT others(2): Show GTGTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA20300.hp1 HG02717.hp2 NA20300.hp1	a0002 a0003 a0002 a0003	a0002c0003 a0003c0004 a0002c0003 a0003c0004	a0002c0003t0022 a0003c0004t0001 a0002c0003t0022 a0003c0004t0001	a0002c0003t0022g0185 a0003c0004t0001g0186 a0002c0003t0022g0185 a0003c0004t0001g0186	2	218	0.0092	9	c.96+ others(26): Show c.96+23506_96+23514dupGTTTTTTTT	PDLIM5	ENSG00000163110.15	transcript	ENST00000317968.9	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDLIM5_chr4_94446942_94673223	94564656	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01071.hp2 HG01081.hp2 others(23): Show HG00735.hp2 HG01071.hp2 HG01081.hp2 HG01109.hp2 HG01123.hp1 HG01255.hp2 HG01346.hp2 HG02257.hp1 HG02451.hp1 HG02559.hp2 HG02622.hp2 HG02735.hp2 HG02970.hp2 HG02976.hp2 HG03130.hp2 HG03209.hp2 HG03491.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp2 NA18942.hp1 NA18946.hp1 NA19002.hp2 NA19057.hp2 NA19064.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0002 a0001c0002t0003 others(4): Show a0001c0001t0005 a0001c0002t0002 a0001c0002t0003 a0001c0002t0018 a0001c0002t0026 a0001c0002t0037 a0001c0002t0038	a0001c0001t0005g0002 a0001c0002t0002g0016 a0001c0002t0002g0017 others(23): Show a0001c0001t0005g0002 a0001c0002t0002g0016 a0001c0002t0002g0017 a0001c0002t0002g0032 a0001c0002t0002g0037 a0001c0002t0002g0051 a0001c0002t0002g0080 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0088 a0001c0002t0002g0112 a0001c0002t0002g0115 a0001c0002t0002g0116 a0001c0002t0002g0119 a0001c0002t0002g0121 a0001c0002t0002g0138 a0001c0002t0002g0170 a0001c0002t0002g0171 a0001c0002t0002g0184 a0001c0002t0003g0128 a0001c0002t0018g0131 a0001c0002t0018g0159 a0001c0002t0026g0078 a0001c0002t0037g0117 a0001c0002t0038g0065	26	218	0.1193	9	c.249 others(26): Show c.249-8684_249-8676dupTTTTTTTTT	PDLIM5	ENSG00000163110.15	transcript	ENST00000317968.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDPK1_chr16_2533021_2608188	2533275	C C	CTTTTTTT others(2): Show CTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02280.hp1 HG02280.hp2 others(11): Show HG02145.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02717.hp2 HG02895.hp1 HG02976.hp1 HG03195.hp1 HG03486.hp2 HG03579.hp1 HG06807.hp1 HG06807.hp2 NA19030.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0001t0018 a0001c0002t0002 others(2): Show a0001c0001t0003 a0001c0001t0018 a0001c0002t0002 a0001c0002t0019 a0001c0003t0039	a0001c0001t0003g0003 a0001c0001t0003g0170 a0001c0001t0003g0172 others(11): Show a0001c0001t0003g0003 a0001c0001t0003g0170 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0176 a0001c0001t0018g0179 a0001c0002t0002g0006 a0001c0002t0002g0155 a0001c0002t0002g0156 a0001c0002t0002g0160 a0001c0002t0002g0162 a0001c0002t0002g0163 a0001c0002t0019g0164 a0001c0003t0039g0177	14	184	0.0761	9	c.-48 others(20): Show c.-4838_-4837insTTTTTTTTT	PDPK1	ENSG00000140992.19	transcript	ENST00000342085.9	protein_coding		4745		chr16	TogoVar
PDPR_chr16_70109332_70167537	70150531	A A	ATTTTTTT others(2): Show ATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp2 HG00597.hp1 others(81): Show HG00323.hp1 HG00423.hp2 HG00597.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01123.hp1 HG01167.hp1 HG01255.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01952.hp1 HG01975.hp2 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02258.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02647.hp2 HG02717.hp2 HG02735.hp1 HG02738.hp2 HG02922.hp1 HG02970.hp1 HG03041.hp2 HG03139.hp1 HG03490.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03704.hp1 HG03710.hp2 HG06807.hp1 NA18747.hp1 NA18940.hp1 NA18945.hp2 NA18947.hp2 NA18950.hp2 NA18953.hp2 NA18961.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18970.hp1 NA18971.hp2 NA18972.hp2 NA18977.hp1 NA18979.hp1 NA18980.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp1 NA18990.hp2 NA18998.hp2 NA18999.hp2 NA19003.hp2 NA19004.hp1 NA19009.hp1 NA19012.hp1 NA19058.hp1 NA19065.hp1 NA19066.hp1 NA19070.hp2 NA19074.hp1 NA19079.hp2 NA19090.hp2 NA20129.hp2 NA20752.hp2	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0008 a0009 a0010 a0012	a0001c0001 a0001c0005 a0001c0017 others(6): Show a0001c0001 a0001c0005 a0001c0017 a0002c0002 a0004c0004 a0008c0009 a0009c0010 a0010c0008 a0012c0012	a0001c0001t0055 a0001c0005t0017 a0001c0005t0024 others(23): Show a0001c0001t0055 a0001c0005t0017 a0001c0005t0024 a0001c0017t0063 a0002c0002t0001 a0002c0002t0006 a0002c0002t0013 a0002c0002t0014 a0002c0002t0023 a0002c0002t0025 a0002c0002t0057 a0002c0002t0060 a0002c0002t0062 a0002c0002t0069 a0002c0002t0070 a0002c0002t0071 a0002c0002t0072 a0002c0002t0073 a0004c0004t0011 a0004c0004t0016 a0004c0004t0058 a0004c0004t0059 a0008c0009t0064 a0009c0010t0001 a0010c0008t0001 a0012c0012t0045	a0001c0001t0055g0262 a0001c0005t0017g0026 a0001c0005t0017g0027 others(77): Show a0001c0001t0055g0262 a0001c0005t0017g0026 a0001c0005t0017g0027 a0001c0005t0017g0028 a0001c0005t0024g0024 a0001c0005t0024g0025 a0001c0017t0063g0029 a0002c0002t0001g0003 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0038 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0066 a0002c0002t0001g0069 a0002c0002t0001g0074 a0002c0002t0001g0076 a0002c0002t0001g0079 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0087 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0006g0064 a0002c0002t0006g0073 a0002c0002t0006g0075 a0002c0002t0006g0077 a0002c0002t0006g0085 a0002c0002t0006g0091 a0002c0002t0006g0092 a0002c0002t0006g0097 a0002c0002t0013g0040 a0002c0002t0013g0047 a0002c0002t0013g0062 a0002c0002t0013g0086 a0002c0002t0014g0065 a0002c0002t0014g0068 a0002c0002t0014g0080 a0002c0002t0014g0083 a0002c0002t0023g0070 a0002c0002t0025g0063 a0002c0002t0025g0072 a0002c0002t0057g0041 a0002c0002t0060g0071 a0002c0002t0062g0099 a0002c0002t0069g0078 a0002c0002t0070g0042 a0002c0002t0071g0089 a0002c0002t0072g0037 a0002c0002t0073g0090 a0004c0004t0011g0006 a0004c0004t0011g0021 a0004c0004t0011g0023 a0004c0004t0016g0018 a0004c0004t0016g0020 a0004c0004t0016g0022 a0004c0004t0058g0017 a0004c0004t0059g0019 a0008c0009t0064g0111 a0009c0010t0001g0053 a0010c0008t0001g0088 a0012c0012t0045g0222	84	289	0.2907	9	c.205 others(28): Show c.2052+1984_2052+1992dupTTTTTTTTT	PDPR	ENSG00000090857.14	transcript	ENST00000288050.9	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDS5A_chr4_39817863_39982911	39949821	G G	GAAAAAAA others(2): Show GAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG00609.hp1 others(92): Show HG00438.hp2 HG00544.hp1 HG00609.hp1 HG00642.hp1 HG00733.hp1 HG01074.hp1 HG01081.hp2 HG01106.hp2 HG01167.hp2 HG01169.hp1 HG01257.hp1 HG01496.hp1 HG01884.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG02004.hp1 HG02027.hp2 HG02040.hp2 HG02071.hp2 HG02074.hp2 HG02083.hp2 HG02129.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03471.hp1 HG03490.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03704.hp1 HG03834.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp1 NA18939.hp1 NA18940.hp2 NA18945.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp2 NA18952.hp2 NA18968.hp2 NA18970.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp2 NA18984.hp2 NA18990.hp1 NA18995.hp2 NA18999.hp2 NA19004.hp2 NA19005.hp2 NA19011.hp1 NA19012.hp1 NA19043.hp1 NA19055.hp1 NA19056.hp1 NA19058.hp1 NA19068.hp1 NA19080.hp2 NA19084.hp1 NA19085.hp1 NA19088.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0012 a0001c0013 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0002t0002 a0001c0004t0001 a0001c0006t0002 a0001c0012t0001 a0001c0013t0007 a0002c0003t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(92): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0007g0106 a0001c0001t0007g0107 a0001c0001t0007g0108 a0001c0001t0007g0110 a0001c0001t0007g0112 a0001c0001t0007g0113 a0001c0001t0011g0309 a0001c0001t0013g0096 a0001c0001t0016g0021 a0001c0002t0002g0218 a0001c0002t0002g0222 a0001c0004t0001g0073 a0001c0004t0001g0078 a0001c0006t0002g0272 a0001c0012t0001g0060 a0001c0013t0007g0109 a0002c0003t0001g0067 a0002c0003t0001g0076 a0002c0003t0001g0077	95	356	0.2669	9	c.139 others(28): Show c.139-21666_139-21658dupTTTTTTTTT	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	2/32			chr4	TogoVar
PDS5B_chr13_32581452_32783019	32655375	T T	TATATATA others(2): Show TATATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0022 a0001c0001t0012 a0001c0001t0022	a0001c0001t0012g0286 a0001c0001t0022g0291 a0001c0001t0022g0292 a0001c0001t0012g0286 a0001c0001t0022g0291 a0001c0001t0022g0292	3	334	0.0090	9	c.313 others(26): Show c.313-2864_313-2863insATATATATA	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34			chr13	TogoVar
PDS5B_chr13_32581452_32783019	32692414	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00738.hp2 HG01071.hp2 others(15): Show HG00140.hp1 HG00738.hp2 HG01071.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01978.hp1 HG01981.hp1 HG02004.hp1 HG02055.hp1 HG02080.hp2 HG02735.hp2 HG04199.hp2 NA18952.hp2 NA18975.hp2 NA18990.hp1 NA19002.hp2 NA19091.hp1	a0001 a0008 a0001 a0008	a0001c0002 a0008c0014 a0001c0002 a0008c0014	a0001c0002t0003 a0001c0002t0007 a0001c0002t0009 others(5): Show a0001c0002t0003 a0001c0002t0007 a0001c0002t0009 a0001c0002t0015 a0001c0002t0030 a0001c0002t0031 a0001c0002t0040 a0008c0014t0015	a0001c0002t0003g0208 a0001c0002t0003g0248 a0001c0002t0003g0251 others(15): Show a0001c0002t0003g0208 a0001c0002t0003g0248 a0001c0002t0003g0251 a0001c0002t0003g0254 a0001c0002t0003g0255 a0001c0002t0003g0257 a0001c0002t0003g0269 a0001c0002t0003g0326 a0001c0002t0003g0329 a0001c0002t0007g0324 a0001c0002t0009g0050 a0001c0002t0009g0062 a0001c0002t0009g0114 a0001c0002t0015g0273 a0001c0002t0030g0236 a0001c0002t0031g0235 a0001c0002t0040g0233 a0008c0014t0015g0272	18	334	0.0539	9	c.147 others(28): Show c.1470-1809_1470-1808insTTTTTTTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	13/34			chr13	TogoVar
PDS5B_chr13_32581452_32783019	32711791	C C	CATATGTA others(2): Show CATATGTAGT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02886.hp1 HG03041.hp2 others(1): Show HG02572.hp2 HG02886.hp1 HG03041.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0228 a0001c0002t0007g0229 a0001c0002t0007g0230 others(1): Show a0001c0002t0007g0228 a0001c0002t0007g0229 a0001c0002t0007g0230 a0001c0002t0007g0231	4	334	0.0120	9	c.212 others(28): Show c.2123+1687_2123+1695dupTATGTAGTA	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	19/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32775097	C C	CTTTTTTT others(2): Show CTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01109.hp1 HG01175.hp2 HG01981.hp2 others(11): Show HG01109.hp1 HG01175.hp2 HG01981.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03710.hp2 HG03942.hp2 HG04199.hp1 HG04228.hp2 NA18956.hp1 NA19072.hp2 NA19079.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0057 a0001c0001t0006 a0001c0001t0057	a0001c0001t0006g0066 a0001c0001t0006g0124 a0001c0001t0006g0129 others(11): Show a0001c0001t0006g0066 a0001c0001t0006g0124 a0001c0001t0006g0129 a0001c0001t0006g0136 a0001c0001t0006g0137 a0001c0001t0006g0143 a0001c0001t0006g0148 a0001c0001t0006g0156 a0001c0001t0006g0157 a0001c0001t0006g0164 a0001c0001t0006g0169 a0001c0001t0006g0173 a0001c0001t0006g0185 a0001c0001t0057g0180	14	334	0.0419	9	c.52 others(16): Show c.52_*60dupTTTTTTTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	35/35	61	INFO_REALIGN_3_PRIME	chr13	TogoVar
PDSS2_chr6_107147562_107464564	107198800	T T	TAACAACA others(2): Show TAACAACAAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00673.hp2 HG00741.hp2 others(10): Show HG00408.hp1 HG00673.hp2 HG00741.hp2 HG01074.hp2 HG01952.hp2 HG02015.hp2 HG02258.hp1 HG03654.hp1 NA18942.hp2 NA18943.hp1 NA19066.hp1 NA19090.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0002c0002t0002 a0003c0004t0002	a0001c0001t0001g0041 a0001c0001t0001g0054 a0001c0001t0002g0029 others(10): Show a0001c0001t0001g0041 a0001c0001t0001g0054 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0036 a0001c0001t0002g0090 a0001c0001t0002g0158 a0001c0001t0002g0160 a0001c0001t0002g0178 a0001c0001t0004g0078 a0002c0002t0002g0005 a0003c0004t0002g0049	13	260	0.0500	9	c.100 others(28): Show c.1009-4955_1009-4947dupGTTGTTGTT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	6/7			chr6	TogoVar
PDSS2_chr6_107147562_107464564	107207978	G G	GTTTTTTT others(2): Show GTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00673.hp1 HG02135.hp1 others(3): Show HG00438.hp2 HG00673.hp1 HG02135.hp1 NA18952.hp1 NA18953.hp1 NA19000.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0139 a0001c0001t0001g0187 a0001c0001t0001g0200 others(3): Show a0001c0001t0001g0139 a0001c0001t0001g0187 a0001c0001t0001g0200 a0001c0001t0001g0216 a0001c0001t0001g0220 a0002c0002t0001g0007	6	260	0.0231	9	c.100 others(28): Show c.1008+2452_1008+2460dupAAAAAAAAA	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	6/7			chr6	TogoVar
PDSS2_chr6_107147562_107464564	107207980	T T	TTTTTTTT others(2): Show TTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02129.hp1 HG04115.hp2 others(3): Show HG01515.hp2 HG02129.hp1 HG04115.hp2 HG04228.hp1 NA18992.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0087 others(3): Show a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0087 a0001c0001t0001g0210 a0001c0001t0002g0136 a0001c0001t0002g0256	6	260	0.0231	9	c.100 others(28): Show c.1008+2458_1008+2459insCAAAAAAAA	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	6/7			chr6	TogoVar
PDSS2_chr6_107147562_107464564	107225162	T T	TATATATA others(2): Show TATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG02055.hp2 others(9): Show HG00438.hp1 HG00438.hp2 HG02055.hp2 HG02723.hp1 HG02922.hp1 NA18953.hp2 NA18984.hp1 NA18995.hp2 NA19062.hp1 NA19077.hp1 NA19240.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0012 a0002c0002t0001	a0001c0001t0001g0064 a0001c0001t0001g0171 a0001c0001t0001g0218 others(9): Show a0001c0001t0001g0064 a0001c0001t0001g0171 a0001c0001t0001g0218 a0001c0001t0002g0035 a0001c0001t0003g0056 a0001c0001t0004g0254 a0001c0001t0004g0255 a0001c0001t0005g0228 a0001c0001t0011g0033 a0001c0001t0011g0177 a0001c0001t0012g0140 a0002c0002t0001g0007	12	260	0.0462	9	c.703 others(28): Show c.703-12881_703-12880insTATATATAT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	4/7			chr6	TogoVar
PDSS2_chr6_107147562_107464564	107225164	T T	TATATATA others(2): Show TATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02809.hp1 HG06807.hp1 HG02647.hp2 HG02809.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0098 a0001c0001t0001g0128 a0001c0001t0003g0129 a0001c0001t0001g0098 a0001c0001t0001g0128 a0001c0001t0003g0129	3	260	0.0115	9	c.703 others(28): Show c.703-12883_703-12882insTATATATAT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	4/7			chr6	TogoVar
PDSS2_chr6_107147562_107464564	107286136	T T	TAAAATAA others(2): Show TAAAATAAAA	intron_variant intron_variant	MODIFIER	HG01256.hp1 NA18612.hp2 NA18942.hp1 others(4): Show HG01256.hp1 NA18612.hp2 NA18942.hp1 NA18978.hp2 NA18982.hp1 NA19086.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0068 a0001c0001t0001g0165 a0001c0001t0001g0166 others(4): Show a0001c0001t0001g0068 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0191 a0001c0001t0001g0222 a0001c0001t0009g0001 a0001c0001t0009g0002	7	260	0.0269	9	c.432 others(28): Show c.432-11910_432-11909insTTTTATTTT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	2/7			chr6	TogoVar
PDZD2_chr5_31634131_32115932	31694402	C C	CAAACAAA others(2): Show CAAACAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02055.hp1 HG02280.hp2 others(5): Show HG01192.hp2 HG02055.hp1 HG02280.hp2 HG02572.hp1 HG03486.hp1 NA18968.hp1 NA18968.hp2 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0006 a0008 a0033 a0034	a0001c0001 a0002c0003 a0003c0004 others(4): Show a0001c0001 a0002c0003 a0003c0004 a0006c0015 a0008c0014 a0033c0042 a0034c0033	a0001c0001t0001 a0002c0003t0002 a0003c0004t0026 others(4): Show a0001c0001t0001 a0002c0003t0002 a0003c0004t0026 a0006c0015t0040 a0008c0014t0004 a0033c0042t0014 a0034c0033t0007	a0001c0001t0001g0052 a0002c0003t0002g0108 a0002c0003t0002g0197 others(5): Show a0001c0001t0001g0052 a0002c0003t0002g0108 a0002c0003t0002g0197 a0003c0004t0026g0065 a0006c0015t0040g0213 a0008c0014t0004g0178 a0033c0042t0014g0187 a0034c0033t0007g0072	8	216	0.0370	9	c.-36 others(30): Show c.-361+54968_-361+54969insCAAAAAAAA	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31752068	G G	GTTTTTTT others(2): Show GTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(51): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00544.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01109.hp2 HG01168.hp1 HG01243.hp2 HG01433.hp1 HG01496.hp2 HG01891.hp2 HG01952.hp2 HG01975.hp1 HG02040.hp2 HG02135.hp1 HG02145.hp1 HG02523.hp1 HG02523.hp2 HG02647.hp2 HG02683.hp1 HG02723.hp2 HG02922.hp1 HG03139.hp1 HG03239.hp1 HG03486.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 NA18747.hp2 NA18944.hp2 NA18948.hp2 NA18953.hp2 NA18962.hp2 NA18964.hp2 NA18968.hp2 NA18973.hp2 NA18979.hp1 NA18986.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp2 NA19030.hp1 NA19057.hp2 NA19085.hp1 NA19090.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp2	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0006 a0008 a0010 a0011 a0013 a0014 a0015 a0016 a0029 a0035	a0001c0001 a0001c0007 a0001c0026 others(20): Show a0001c0001 a0001c0007 a0001c0026 a0001c0035 a0002c0002 a0002c0003 a0002c0011 a0002c0012 a0002c0063 a0003c0004 a0003c0008 a0003c0038 a0004c0006 a0006c0016 a0008c0014 a0010c0039 a0011c0065 a0013c0019 a0014c0021 a0015c0028 a0016c0032 a0029c0055 a0035c0043	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(33): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0034 a0001c0007t0009 a0001c0026t0002 a0001c0035t0039 a0002c0002t0001 a0002c0002t0006 a0002c0002t0025 a0002c0003t0002 a0002c0003t0005 a0002c0003t0020 a0002c0011t0002 a0002c0012t0002 a0002c0063t0002 a0003c0004t0001 a0003c0004t0004 a0003c0004t0026 a0003c0004t0027 a0003c0004t0042 a0003c0004t0045 a0003c0008t0006 a0003c0038t0001 a0004c0006t0010 a0006c0016t0002 a0008c0014t0004 a0010c0039t0030 a0011c0065t0004 a0013c0019t0007 a0014c0021t0003 a0015c0028t0004 a0016c0032t0001 a0029c0055t0028 a0035c0043t0002	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0081 others(51): Show a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0097 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0130 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0146 a0001c0001t0001g0180 a0001c0001t0001g0195 a0001c0001t0003g0008 a0001c0001t0003g0023 a0001c0001t0003g0032 a0001c0001t0006g0041 a0001c0001t0006g0116 a0001c0001t0008g0068 a0001c0001t0008g0161 a0001c0001t0034g0139 a0001c0007t0009g0142 a0001c0026t0002g0077 a0001c0035t0039g0209 a0002c0002t0001g0143 a0002c0002t0001g0153 a0002c0002t0006g0131 a0002c0002t0025g0069 a0002c0003t0002g0092 a0002c0003t0005g0016 a0002c0003t0005g0017 a0002c0003t0020g0033 a0002c0011t0002g0085 a0002c0012t0002g0078 a0002c0063t0002g0090 a0003c0004t0001g0099 a0003c0004t0004g0113 a0003c0004t0026g0065 a0003c0004t0027g0101 a0003c0004t0042g0025 a0003c0004t0045g0027 a0003c0008t0006g0109 a0003c0038t0001g0055 a0004c0006t0010g0166 a0006c0016t0002g0043 a0008c0014t0004g0178 a0010c0039t0030g0216 a0011c0065t0004g0168 a0013c0019t0007g0205 a0014c0021t0003g0012 a0015c0028t0004g0079 a0016c0032t0001g0048 a0029c0055t0028g0054 a0035c0043t0002g0089	54	216	0.2500	9	c.-36 others(30): Show c.-360-46821_-360-46820insTTTTTTTTT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24			chr5	TogoVar
PDZD2_chr5_31634131_32115932	31791627	A A	AAAAGCAC others(2): Show AAAAGCACCT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG00597.hp1 others(37): Show HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00673.hp1 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01361.hp1 HG01975.hp2 HG02040.hp1 HG02080.hp1 HG02698.hp2 HG03491.hp1 HG03492.hp1 HG03654.hp2 HG03831.hp2 HG04184.hp1 HG04204.hp1 NA18747.hp2 NA18939.hp1 NA18942.hp1 NA18944.hp1 NA18953.hp1 NA18962.hp2 NA18964.hp1 NA18968.hp2 NA18973.hp1 NA18979.hp1 NA18979.hp2 NA18986.hp1 NA18989.hp1 NA19005.hp1 NA19009.hp1 NA19011.hp1 NA19057.hp2 NA19088.hp2 NA19090.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0022 a0027	a0001c0001 a0001c0005 a0001c0026 others(7): Show a0001c0001 a0001c0005 a0001c0026 a0002c0002 a0002c0003 a0002c0063 a0003c0004 a0003c0008 a0022c0057 a0027c0025	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0021 a0001c0001t0037 a0001c0005t0001 a0001c0026t0002 a0002c0002t0001 a0002c0002t0003 a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 a0002c0063t0002 a0003c0004t0001 a0003c0004t0003 a0003c0004t0004 a0003c0004t0026 a0003c0004t0045 a0003c0008t0012 a0022c0057t0001 a0027c0025t0001	a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0130 others(37): Show a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0165 a0001c0001t0002g0075 a0001c0001t0002g0088 a0001c0001t0002g0117 a0001c0001t0003g0009 a0001c0001t0004g0208 a0001c0001t0021g0149 a0001c0001t0037g0154 a0001c0005t0001g0123 a0001c0026t0002g0077 a0002c0002t0001g0076 a0002c0002t0001g0104 a0002c0002t0001g0111 a0002c0002t0001g0120 a0002c0002t0003g0021 a0002c0002t0003g0026 a0002c0003t0001g0118 a0002c0003t0002g0092 a0002c0003t0002g0103 a0002c0003t0002g0133 a0002c0003t0002g0150 a0002c0003t0005g0016 a0002c0003t0005g0017 a0002c0003t0005g0028 a0002c0063t0002g0090 a0003c0004t0001g0129 a0003c0004t0001g0163 a0003c0004t0003g0022 a0003c0004t0004g0115 a0003c0004t0026g0065 a0003c0004t0045g0027 a0003c0008t0012g0030 a0022c0057t0001g0137 a0027c0025t0001g0125	40	216	0.1852	9	c.-36 others(28): Show c.-360-7260_-360-7252dupAAGCACCTA	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31880791	C C	CTTTTTTT others(2): Show CTTTTTTTCT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01891.hp2 HG01952.hp2 others(2): Show HG01175.hp1 HG01891.hp2 HG01952.hp2 HG02602.hp2 NA18989.hp2	a0001 a0003 a0011 others(1): Show a0001 a0003 a0011 a0028	a0001c0001 a0003c0004 a0011c0065 others(1): Show a0001c0001 a0003c0004 a0011c0065 a0028c0051	a0001c0001t0001 a0003c0004t0002 a0003c0004t0011 others(2): Show a0001c0001t0001 a0003c0004t0002 a0003c0004t0011 a0011c0065t0004 a0028c0051t0008	a0001c0001t0001g0038 a0003c0004t0002g0074 a0003c0004t0011g0124 others(2): Show a0001c0001t0001g0038 a0003c0004t0002g0074 a0003c0004t0011g0124 a0011c0065t0004g0168 a0028c0051t0008g0169	5	216	0.0232	9	c.476 others(28): Show c.476+81074_476+81075insCTTTTTTTT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31912313	A A	ATAAGGAC others(2): Show ATAAGGACAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA18906.hp2 HG02257.hp1 NA18906.hp2	a0001 a0001	a0001c0036 a0001c0050 a0001c0036 a0001c0050	a0001c0036t0019 a0001c0050t0036 a0001c0036t0019 a0001c0050t0036	a0001c0036t0019g0211 a0001c0050t0036g0148 a0001c0036t0019g0211 a0001c0050t0036g0148	2	216	0.0093	9	c.477 others(28): Show c.477-70838_477-70830dupGGACACTAA	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr5	TogoVar

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