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
PDZD7_chr10_101002679_101036129	101017858	A A	AGAAAGAA others(10): Show AGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02293.hp2 NA18982.hp1 NA19011.hp2 others(1): Show HG02293.hp2 NA18982.hp1 NA19011.hp2 NA19068.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0034 a0001c0001 a0003c0034	a0001c0001t0002 a0001c0001t0004 a0003c0034t0005 a0001c0001t0002 a0001c0001t0004 a0003c0034t0005	a0001c0001t0002g0200 a0001c0001t0002g0242 a0001c0001t0004g0239 others(1): Show a0001c0001t0002g0200 a0001c0001t0002g0242 a0001c0001t0004g0239 a0003c0034t0005g0165	4	432	0.0093	17	c.152 others(34): Show c.1522+224_1522+240dupCTTTCTTTCTTTCTTTC	PDZD7	ENSG00000186862.20	transcript	ENST00000619208.6	protein_coding	9/16			chr10	TogoVar
PDZD7_chr10_101002679_101036129	101017859	G G	GAAAGAAA others(10): Show GAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0005 a0002c0010t0005	a0002c0010t0005g0252 a0002c0010t0005g0252	1	432	0.0023	17	c.152 others(34): Show c.1522+223_1522+239dupTCTTTCTTTCTTTCTTT	PDZD7	ENSG00000186862.20	transcript	ENST00000619208.6	protein_coding	9/16			chr10	TogoVar
PDZD7_chr10_101002679_101036129	101017862	A A	AGAAAGAA others(10): Show AGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02280.hp2 HG02738.hp1 others(1): Show HG00609.hp2 HG02280.hp2 HG02738.hp1 HG04228.hp1	a0001 a0005 a0008 a0001 a0005 a0008	a0001c0001 a0005c0005 a0008c0009 a0001c0001 a0005c0005 a0008c0009	a0001c0001t0001 a0001c0001t0002 a0005c0005t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0005c0005t0001 a0008c0009t0002	a0001c0001t0001g0159 a0001c0001t0002g0230 a0005c0005t0001g0219 others(1): Show a0001c0001t0001g0159 a0001c0001t0002g0230 a0005c0005t0001g0219 a0008c0009t0002g0206	4	432	0.0093	17	c.152 others(34): Show c.1522+220_1522+236dupCTTTCTTTCTTTCTTTC	PDZD7	ENSG00000186862.20	transcript	ENST00000619208.6	protein_coding	9/16			chr10	TogoVar
PDZD7_chr10_101002679_101036129	101017866	A A	AGAAAGAA others(10): Show AGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02622.hp1 HG03195.hp1 others(2): Show HG02572.hp1 HG02622.hp1 HG03195.hp1 HG03540.hp1 NA18942.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0004c0004t0006	a0001c0001t0001g0149 a0001c0001t0001g0218 a0001c0001t0004g0175 others(2): Show a0001c0001t0001g0149 a0001c0001t0001g0218 a0001c0001t0004g0175 a0002c0002t0001g0231 a0004c0004t0006g0152	5	432	0.0116	17	c.152 others(34): Show c.1522+216_1522+232dupCTTTCTTTCTTTCTTTC	PDZD7	ENSG00000186862.20	transcript	ENST00000619208.6	protein_coding	9/16			chr10	TogoVar
PDZD7_chr10_101002679_101036129	101017870	A A	AGAAAGAA others(10): Show AGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp1 HG01884.hp1 others(1): Show HG01515.hp2 HG01517.hp1 HG01884.hp1 HG03579.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0001c0001t0006 a0005c0005t0001 a0001c0001t0001 a0001c0001t0006 a0005c0005t0001	a0001c0001t0001g0148 a0001c0001t0006g0196 a0005c0005t0001g0370 others(1): Show a0001c0001t0001g0148 a0001c0001t0006g0196 a0005c0005t0001g0370 a0005c0005t0001g0376	4	432	0.0093	17	c.152 others(34): Show c.1522+212_1522+228dupCTTTCTTTCTTTCTTTC	PDZD7	ENSG00000186862.20	transcript	ENST00000619208.6	protein_coding	9/16			chr10	TogoVar
PDZRN3_chr3_73377431_73629941	73489575	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02895.hp2 HG01346.hp2 HG02895.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0012 a0001c0002 a0003c0012	a0001c0002t0008 a0003c0012t0002 a0001c0002t0008 a0003c0012t0002	a0001c0002t0008g0034 a0003c0012t0002g0181 a0001c0002t0008g0034 a0003c0012t0002g0181	2	216	0.0093	17	c.919 others(36): Show c.919-85181_919-85180insAAAAAAAAAAAAAAAAA	PDZRN3	ENSG00000121440.15	transcript	ENST00000263666.9	protein_coding	3/9			chr3	TogoVar
PDZRN3_chr3_73377431_73629941	73563013	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA19080.hp1 HG02132.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0058 a0001c0001t0001g0060	2	216	0.0093	17	c.918 others(36): Show c.918+39340_918+39341insATATATATATATATATA	PDZRN3	ENSG00000121440.15	transcript	ENST00000263666.9	protein_coding	3/9			chr3	TogoVar
PDZRN3_chr3_73377431_73629941	73563014	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	216	0.0046	17	c.918 others(36): Show c.918+39339_918+39340insTATATATATATATATAT	PDZRN3	ENSG00000121440.15	transcript	ENST00000263666.9	protein_coding	3/9			chr3	TogoVar
PDZRN4_chr12_41183320_41579745	41197918	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTGTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01981.hp2 HG02055.hp1 others(22): Show HG01884.hp1 HG01981.hp2 HG02055.hp1 HG02280.hp1 HG02559.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03540.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18942.hp1 NA18968.hp1 NA19010.hp1 NA19060.hp1 NA19080.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0023	a0001c0001 a0001c0004 a0001c0010 others(6): Show a0001c0001 a0001c0004 a0001c0010 a0001c0013 a0003c0006 a0003c0043 a0004c0003 a0004c0020 a0023c0037	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0004t0001 a0001c0010t0001 a0001c0010t0002 a0001c0010t0004 a0001c0013t0001 a0003c0006t0001 a0003c0043t0001 a0004c0003t0001 a0004c0020t0001 a0023c0037t0001	a0001c0001t0001g0084 a0001c0001t0001g0113 a0001c0001t0001g0119 others(22): Show a0001c0001t0001g0084 a0001c0001t0001g0113 a0001c0001t0001g0119 a0001c0001t0002g0110 a0001c0001t0004g0006 a0001c0004t0001g0111 a0001c0004t0001g0112 a0001c0010t0001g0114 a0001c0010t0001g0121 a0001c0010t0001g0122 a0001c0010t0002g0116 a0001c0010t0004g0118 a0001c0013t0001g0085 a0003c0006t0001g0005 a0003c0043t0001g0117 a0004c0003t0001g0003 a0004c0003t0001g0105 a0004c0003t0001g0106 a0004c0003t0001g0108 a0004c0003t0001g0109 a0004c0003t0001g0115 a0004c0003t0001g0123 a0004c0020t0001g0004 a0004c0020t0001g0153 a0023c0037t0001g0150	25	206	0.1214	17	c.843 others(34): Show c.843+3730_843+3731insTTTTTTTTTTTTTGTTT	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9			chr12	TogoVar
PDZRN4_chr12_41183320_41579745	41197918	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0082 a0004c0003t0001g0082	1	206	0.0049	17	c.843 others(34): Show c.843+3730_843+3731insTTTTTTTTTTTTTTTTT	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9			chr12	TogoVar
PDZRN4_chr12_41183320_41579745	41197919	G G	GTTTTTTT others(10): Show GTTTTTTTTTTGTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG03098.hp2 HG00673.hp1 HG03098.hp2	a0002 a0002	a0002c0022 a0002c0022	a0002c0022t0001 a0002c0022t0001	a0002c0022t0001g0140 a0002c0022t0001g0141 a0002c0022t0001g0140 a0002c0022t0001g0141	2	206	0.0097	17	c.843 others(34): Show c.843+3731_843+3732insTTTTTTTTTTGTTTTTT	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9			chr12	TogoVar
PDZRN4_chr12_41183320_41579745	41197919	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTGTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG02647.hp2 others(5): Show HG01167.hp2 HG01169.hp2 HG02647.hp2 HG02895.hp2 HG03098.hp1 HG03471.hp2 HG03486.hp1 NA18522.hp2	a0002 a0008 a0009 others(2): Show a0002 a0008 a0009 a0012 a0017	a0002c0015 a0002c0024 a0002c0027 others(5): Show a0002c0015 a0002c0024 a0002c0027 a0008c0025 a0008c0026 a0009c0021 a0012c0048 a0017c0053	a0002c0015t0001 a0002c0024t0002 a0002c0027t0001 others(5): Show a0002c0015t0001 a0002c0024t0002 a0002c0027t0001 a0008c0025t0001 a0008c0026t0001 a0009c0021t0001 a0012c0048t0001 a0017c0053t0001	a0002c0015t0001g0146 a0002c0024t0002g0133 a0002c0027t0001g0149 others(5): Show a0002c0015t0001g0146 a0002c0024t0002g0133 a0002c0027t0001g0149 a0008c0025t0001g0148 a0008c0026t0001g0147 a0009c0021t0001g0142 a0012c0048t0001g0144 a0017c0053t0001g0145	8	206	0.0388	17	c.843 others(34): Show c.843+3731_843+3732insTTTTTTTTTTTGTTTTT	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9			chr12	TogoVar
PDZRN4_chr12_41183320_41579745	41197926	T T	TTTTTGTT others(10): Show TTTTTGTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0003 a0003	a0003c0031 a0003c0031	a0003c0031t0001 a0003c0031t0001	a0003c0031t0001g0001 a0003c0031t0001g0001	1	206	0.0049	17	c.843 others(34): Show c.843+3742_843+3743insGTTTTTTTTTTTCTTTT	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDZRN4_chr12_41183320_41579745	41214430	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01981.hp2 HG02886.hp1 others(4): Show HG01109.hp2 HG01981.hp2 HG02886.hp1 HG03139.hp1 HG04228.hp1 HG06807.hp2 NA19010.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0023	a0001c0004 a0002c0002 a0003c0006 others(2): Show a0001c0004 a0002c0002 a0003c0006 a0004c0003 a0023c0037	a0001c0004t0001 a0002c0002t0001 a0003c0006t0001 others(2): Show a0001c0004t0001 a0002c0002t0001 a0003c0006t0001 a0004c0003t0001 a0023c0037t0001	a0001c0004t0001g0112 a0002c0002t0001g0087 a0003c0006t0001g0096 others(4): Show a0001c0004t0001g0112 a0002c0002t0001g0087 a0003c0006t0001g0096 a0003c0006t0001g0097 a0003c0006t0001g0098 a0004c0003t0001g0108 a0023c0037t0001g0150	7	206	0.0340	17	c.843 others(36): Show c.843+20246_843+20262dupAAAAAAAAAAAAAAAAA	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDZRN4_chr12_41183320_41579745	41378520	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03130.hp1 HG03195.hp1 HG02257.hp1 HG03130.hp1 HG03195.hp1	a0002 a0020 a0002 a0020	a0002c0017 a0002c0061 a0020c0033 a0002c0017 a0002c0061 a0020c0033	a0002c0017t0001 a0002c0061t0001 a0020c0033t0006 a0002c0017t0001 a0002c0061t0001 a0020c0033t0006	a0002c0017t0001g0092 a0002c0061t0001g0100 a0020c0033t0006g0093 a0002c0017t0001g0092 a0002c0061t0001g0100 a0020c0033t0006g0093	3	206	0.0146	17	c.844 others(38): Show c.844-127933_844-127917dupTTTTTTTTTTTTTTTTT	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDZRN4_chr12_41183320_41579745	41411067	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0003 a0004c0003t0001g0003	1	206	0.0049	17	c.844 others(36): Show c.844-95388_844-95387insATATATATATATATATT	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDZRN4_chr12_41183320_41579745	41507796	A A	ATTCATTC others(10): Show ATTCATTCATCCATTACC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00544.hp1 others(50): Show HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00621.hp2 HG00738.hp1 HG01109.hp2 HG01192.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02148.hp2 HG02257.hp1 HG02451.hp2 HG02622.hp1 HG02886.hp1 HG02895.hp2 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03209.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03540.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18942.hp2 NA18945.hp1 NA18947.hp1 NA18950.hp1 NA18954.hp1 NA18966.hp1 NA18970.hp2 NA18978.hp2 NA18980.hp1 NA18998.hp2 NA19000.hp2 NA19006.hp1 NA19007.hp2 NA19010.hp2 NA19012.hp2 NA19056.hp1 NA19058.hp1 NA19064.hp1 NA19066.hp1 NA19070.hp1 NA19070.hp2 NA19080.hp1 NA19083.hp1 NA19086.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0006 a0007 a0008 a0011 a0013 a0015 a0017 a0018 a0020	a0001c0011 a0001c0034 a0001c0044 others(21): Show a0001c0011 a0001c0034 a0001c0044 a0002c0019 a0002c0055 a0003c0005 a0003c0006 a0003c0031 a0003c0036 a0003c0043 a0006c0007 a0006c0049 a0007c0045 a0008c0025 a0008c0026 a0008c0046 a0008c0056 a0008c0057 a0011c0047 a0013c0062 a0015c0050 a0017c0053 a0018c0035 a0020c0033	a0001c0011t0003 a0001c0034t0003 a0001c0044t0001 others(22): Show a0001c0011t0003 a0001c0034t0003 a0001c0044t0001 a0002c0019t0003 a0002c0055t0001 a0003c0005t0001 a0003c0006t0001 a0003c0006t0002 a0003c0031t0001 a0003c0036t0001 a0003c0043t0001 a0006c0007t0003 a0006c0049t0002 a0007c0045t0001 a0008c0025t0001 a0008c0026t0001 a0008c0046t0001 a0008c0056t0001 a0008c0057t0001 a0011c0047t0001 a0013c0062t0001 a0015c0050t0001 a0017c0053t0001 a0018c0035t0001 a0020c0033t0006	a0001c0011t0003g0034 a0001c0011t0003g0038 a0001c0011t0003g0052 others(50): Show a0001c0011t0003g0034 a0001c0011t0003g0038 a0001c0011t0003g0052 a0001c0011t0003g0055 a0001c0034t0003g0037 a0001c0044t0001g0107 a0002c0019t0003g0167 a0002c0019t0003g0175 a0002c0019t0003g0177 a0002c0055t0001g0205 a0003c0005t0001g0017 a0003c0005t0001g0018 a0003c0005t0001g0048 a0003c0005t0001g0049 a0003c0005t0001g0050 a0003c0005t0001g0053 a0003c0005t0001g0059 a0003c0005t0001g0070 a0003c0005t0001g0071 a0003c0005t0001g0074 a0003c0005t0001g0083 a0003c0006t0001g0005 a0003c0006t0001g0079 a0003c0006t0001g0095 a0003c0006t0001g0096 a0003c0006t0001g0097 a0003c0006t0001g0098 a0003c0006t0001g0124 a0003c0006t0002g0073 a0003c0031t0001g0001 a0003c0036t0001g0007 a0003c0043t0001g0117 a0006c0007t0003g0020 a0006c0007t0003g0022 a0006c0007t0003g0024 a0006c0007t0003g0025 a0006c0007t0003g0026 a0006c0007t0003g0027 a0006c0007t0003g0029 a0006c0007t0003g0033 a0006c0049t0002g0028 a0007c0045t0001g0125 a0008c0025t0001g0148 a0008c0026t0001g0147 a0008c0046t0001g0135 a0008c0056t0001g0160 a0008c0057t0001g0201 a0011c0047t0001g0139 a0013c0062t0001g0202 a0015c0050t0001g0023 a0017c0053t0001g0145 a0018c0035t0001g0094 a0020c0033t0006g0093	53	206	0.2573	17	c.110 others(36): Show c.1100+1086_1100+1087insCATTCATCCATTACCTT	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEAK1_chr15_77103158_77425104	77225657	G G	GTATAATT others(10): Show GTATAATTTATATATATA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0006 a0003c0003t0006	a0003c0003t0006g0171 a0003c0003t0006g0171	1	326	0.0031	17	c.-11 others(38): Show c.-115+26709_-115+26710insTATATATATAAATTATA	PEAK1	ENSG00000173517.11	transcript	ENST00000682557.1	protein_coding	6/9			chr15	TogoVar
PEAK1_chr15_77103158_77425104	77226044	G G	GATATATA others(10): Show GATATATATAATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp2 HG01928.hp1 others(1): Show HG00280.hp1 HG00642.hp2 HG01928.hp1 NA19084.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0004 a0002c0002t0012 a0002c0002t0003 a0002c0002t0004 a0002c0002t0012	a0002c0002t0003g0309 a0002c0002t0004g0244 a0002c0002t0012g0211 others(1): Show a0002c0002t0003g0309 a0002c0002t0004g0244 a0002c0002t0012g0211 a0002c0002t0012g0286	4	326	0.0123	17	c.-11 others(38): Show c.-115+26322_-115+26323insATATATATTATATATAT	PEAK1	ENSG00000173517.11	transcript	ENST00000682557.1	protein_coding	6/9			chr15	TogoVar
PEAK1_chr15_77103158_77425104	77298197	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02572.hp2 HG03491.hp2 others(3): Show HG00408.hp1 HG02572.hp2 HG03491.hp2 HG03492.hp2 HG04184.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0043 others(3): Show a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0043 a0001c0001t0001g0057 a0001c0001t0001g0075 a0001c0001t0001g0102	6	326	0.0184	17	c.-60 others(38): Show c.-602-11710_-602-11694dupAAAAAAAAAAAAAAAAA	PEAK1	ENSG00000173517.11	transcript	ENST00000682557.1	protein_coding	2/9			chr15	TogoVar
PEAK1_chr15_77103158_77425104	77377520	T T	TCAGCTCA others(10): Show TCAGCTCACTGCAACCTC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02572.hp1 HG02622.hp1 others(3): Show HG01496.hp1 HG02572.hp1 HG02622.hp1 HG02717.hp2 HG03209.hp2 NA19043.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0034 a0001c0004t0035 a0001c0004t0036 a0001c0004t0034 a0001c0004t0035 a0001c0004t0036	a0001c0004t0034g0307 a0001c0004t0034g0308 a0001c0004t0035g0185 others(3): Show a0001c0004t0034g0307 a0001c0004t0034g0308 a0001c0004t0035g0185 a0001c0004t0035g0186 a0001c0004t0036g0305 a0001c0004t0036g0306	6	326	0.0184	17	c.-66 others(38): Show c.-665-12312_-665-12296dupGAGGTTGCAGTGAGCTG	PEAK1	ENSG00000173517.11	transcript	ENST00000682557.1	protein_coding	1/9			chr15	TogoVar
PEAR1_chr1_156888718_156921429	156911080	T T	TCTTTCTT others(10): Show TCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0014 a0014	a0014c0024 a0014c0024	a0014c0024t0011 a0014c0024t0011	a0014c0024t0011g0233 a0014c0024t0011g0233	1	384	0.0026	17	c.195 others(34): Show c.1951+350_1951+351insTTTCCTTTCTTTCTTTC	PEAR1	ENSG00000187800.14	transcript	ENST00000292357.8	protein_coding	15/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
PEAR1_chr1_156888718_156921429	156911097	T T	TCTTTCTT others(10): Show TCTTTCTTTCTTTCCTTC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00597.hp2 others(53): Show HG00408.hp2 HG00423.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG01074.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01433.hp2 HG01928.hp2 HG01975.hp2 HG01978.hp1 HG02015.hp2 HG02056.hp2 HG02074.hp2 HG02129.hp2 HG02132.hp2 HG02451.hp1 HG02698.hp2 HG02970.hp2 HG03041.hp1 HG03486.hp1 HG03492.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03927.hp1 HG04228.hp1 NA18747.hp1 NA18943.hp1 NA18943.hp2 NA18948.hp2 NA18949.hp1 NA18952.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18970.hp1 NA18981.hp1 NA18982.hp2 NA18984.hp2 NA19009.hp1 NA19010.hp2 NA19030.hp1 NA19043.hp2 NA19091.hp2 NA20805.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0007 a0009 a0013 a0015 a0021	a0001c0002 a0001c0007 a0001c0008 others(13): Show a0001c0002 a0001c0007 a0001c0008 a0001c0016 a0001c0018 a0001c0038 a0002c0001 a0002c0014 a0003c0005 a0003c0044 a0004c0004 a0007c0015 a0009c0021 a0013c0023 a0015c0028 a0021c0050	a0001c0002t0003 a0001c0002t0004 a0001c0002t0017 others(18): Show a0001c0002t0003 a0001c0002t0004 a0001c0002t0017 a0001c0007t0003 a0001c0008t0004 a0001c0016t0003 a0001c0018t0001 a0001c0018t0006 a0001c0038t0003 a0002c0001t0001 a0002c0014t0001 a0003c0005t0006 a0003c0005t0007 a0003c0044t0002 a0004c0004t0001 a0004c0004t0005 a0007c0015t0005 a0009c0021t0003 a0013c0023t0003 a0015c0028t0001 a0021c0050t0001	a0001c0002t0003g0007 a0001c0002t0003g0025 a0001c0002t0003g0029 others(38): Show a0001c0002t0003g0007 a0001c0002t0003g0025 a0001c0002t0003g0029 a0001c0002t0003g0031 a0001c0002t0003g0088 a0001c0002t0003g0095 a0001c0002t0003g0097 a0001c0002t0003g0099 a0001c0002t0004g0230 a0001c0002t0017g0029 a0001c0007t0003g0254 a0001c0008t0004g0038 a0001c0016t0003g0030 a0001c0016t0003g0104 a0001c0018t0001g0224 a0001c0018t0006g0103 a0001c0038t0003g0087 a0002c0001t0001g0006 a0002c0001t0001g0063 a0002c0001t0001g0133 a0002c0001t0001g0161 a0002c0001t0001g0164 a0002c0001t0001g0169 a0002c0001t0001g0170 a0002c0001t0001g0175 a0002c0001t0001g0244 a0002c0014t0001g0006 a0003c0005t0006g0055 a0003c0005t0007g0041 a0003c0044t0002g0245 a0004c0004t0001g0140 a0004c0004t0001g0173 a0004c0004t0001g0176 a0004c0004t0001g0198 a0004c0004t0005g0179 a0007c0015t0005g0107 a0009c0021t0003g0007 a0013c0023t0003g0115 a0015c0028t0001g0006 a0015c0028t0001g0145 a0021c0050t0001g0143	56	384	0.1458	17	c.195 others(34): Show c.1951+366_1951+367insCCTTCCTTTCTTTCTTT	PEAR1	ENSG00000187800.14	transcript	ENST00000292357.8	protein_coding	15/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
PEBP4_chr8_22708251_22932914	22749805	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp1 HG00609.hp2 others(18): Show HG00280.hp2 HG00544.hp1 HG00609.hp2 HG00639.hp2 HG01261.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01952.hp1 HG02135.hp2 HG02451.hp1 NA18953.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18983.hp2 NA19030.hp1 NA19068.hp2 NA19091.hp2 NA20752.hp2 NA20805.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 others(6): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0002c0002t0009 a0003c0003t0003 a0003c0003t0004 a0004c0004t0003 a0004c0004t0004 a0004c0008t0006	a0001c0001t0001g0085 a0001c0001t0001g0103 a0001c0001t0002g0170 others(18): Show a0001c0001t0001g0085 a0001c0001t0001g0103 a0001c0001t0002g0170 a0001c0001t0002g0179 a0001c0001t0002g0184 a0001c0001t0002g0202 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0221 a0001c0001t0002g0263 a0002c0002t0002g0233 a0002c0002t0009g0055 a0003c0003t0003g0036 a0003c0003t0003g0047 a0003c0003t0004g0213 a0003c0003t0004g0260 a0004c0004t0003g0137 a0004c0004t0004g0183 a0004c0004t0004g0188 a0004c0004t0004g0205 a0004c0008t0006g0010	21	278	0.0755	17	c.358 others(36): Show c.358-22602_358-22586dupAAAAAAAAAAAAAAAAA	PEBP4	ENSG00000134020.8	transcript	ENST00000256404.8	protein_coding	4/6			chr8	TogoVar
PECAM1_chr17_64314415_64395860	64318949	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG02055.hp2 others(3): Show HG01069.hp2 HG01071.hp1 HG02055.hp2 HG02965.hp1 NA18522.hp1 NA18906.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0003c0005 a0002c0002 a0003c0003 a0003c0005	a0002c0002t0001 a0003c0003t0001 a0003c0005t0030 a0002c0002t0001 a0003c0003t0001 a0003c0005t0030	a0002c0002t0001g0098 a0003c0003t0001g0019 a0003c0003t0001g0021 others(3): Show a0002c0002t0001g0098 a0003c0003t0001g0019 a0003c0003t0001g0021 a0003c0003t0001g0022 a0003c0003t0001g0124 a0003c0005t0030g0136	6	288	0.0208	17	c.48 others(28): Show c.4866_*4867insAAAAAAAAAAAAAAAAA	PECAM1	ENSG00000261371.6	transcript	ENST00000563924.6	protein_coding		465		chr17	TogoVar
PELP1_chr17_4664774_4709137	4694497	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00423.hp2 others(115): Show HG00099.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG01070.hp2 HG01071.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp2 HG02004.hp2 HG02040.hp1 HG02129.hp2 HG02148.hp2 HG02155.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02615.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18941.hp2 NA18946.hp2 NA18948.hp2 NA18955.hp2 NA18961.hp1 NA18966.hp2 NA18982.hp2 NA18985.hp1 NA18985.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18997.hp1 NA18997.hp2 NA19000.hp2 NA19012.hp2 NA19057.hp1 NA19057.hp2 NA19063.hp2 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0007 a0013	a0001c0001 a0001c0002 a0001c0006 others(11): Show a0001c0001 a0001c0002 a0001c0006 a0001c0010 a0001c0015 a0001c0023 a0001c0029 a0002c0003 a0002c0022 a0003c0005 a0004c0009 a0005c0011 a0007c0012 a0013c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0020 a0001c0002t0007 a0001c0002t0008 a0001c0002t0017 a0001c0006t0001 a0001c0010t0001 a0001c0015t0018 a0001c0023t0005 a0001c0029t0001 a0002c0003t0003 a0002c0022t0003 a0003c0005t0001 a0004c0009t0007 a0005c0011t0010 a0007c0012t0001 a0013c0021t0010	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0013 others(106): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0044 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0249 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0002g0165 a0001c0001t0002g0188 a0001c0001t0002g0252 a0001c0001t0009g0023 a0001c0001t0009g0024 a0001c0001t0009g0163 a0001c0001t0009g0177 a0001c0001t0010g0053 a0001c0001t0012g0154 a0001c0001t0012g0179 a0001c0001t0020g0152 a0001c0002t0007g0209 a0001c0002t0008g0085 a0001c0002t0008g0089 a0001c0002t0008g0090 a0001c0002t0008g0091 a0001c0002t0008g0092 a0001c0002t0017g0087 a0001c0006t0001g0103 a0001c0006t0001g0104 a0001c0006t0001g0113 a0001c0010t0001g0065 a0001c0010t0001g0127 a0001c0010t0001g0129 a0001c0015t0018g0239 a0001c0023t0005g0088 a0001c0029t0001g0141 a0002c0003t0003g0017 a0002c0003t0003g0231 a0002c0003t0003g0233 a0002c0003t0003g0234 a0002c0003t0003g0235 a0002c0003t0003g0236 a0002c0003t0003g0240 a0002c0003t0003g0241 a0002c0003t0003g0244 a0002c0022t0003g0237 a0003c0005t0001g0014 a0003c0005t0001g0112 a0003c0005t0001g0175 a0004c0009t0007g0027 a0005c0011t0010g0052 a0005c0011t0010g0054 a0007c0012t0001g0020 a0013c0021t0010g0176	118	316	0.3734	17	c.250 others(34): Show c.250-3056_250-3055insTTTTTTTTTTTTTTTTT	PELP1	ENSG00000141456.16	transcript	ENST00000572293.7	protein_coding	1/16			chr17	TogoVar
PEMT_chr17_17500563_17596708	17586216	A A	AGAAAGAA others(10): Show AGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0279 a0002c0002t0001g0279	1	348	0.0029	17	c.96+ others(32): Show c.96+5314_96+5315insCTTTCTTTCTTTCTTTC	PEMT	ENSG00000133027.18	transcript	ENST00000255389.10	protein_coding	1/6			chr17	TogoVar
PEMT_chr17_17500563_17596708	17586291	A A	AGAAAGAA others(10): Show AGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	348	0.0029	17	c.96+ others(32): Show c.96+5239_96+5240insCTTTCTTTCTTTCTTTC	PEMT	ENSG00000133027.18	transcript	ENST00000255389.10	protein_coding	1/6			chr17	TogoVar
PEPD_chr19_33381950_33526791	33427252	G G	GTCGTGGC others(10): Show GTCGTGGCTCATGGCATC	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA19240.hp1 NA21309.hp2 HG02258.hp1 NA19240.hp1 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0083 a0002c0002t0005g0171 a0002c0002t0005g0228 a0002c0002t0005g0083 a0002c0002t0005g0171 a0002c0002t0005g0228	3	314	0.0096	17	c.672 others(36): Show c.672-13626_672-13610dupGATGCCATGAGCCACGA	PEPD	ENSG00000124299.16	transcript	ENST00000244137.12	protein_coding	9/14			chr19	TogoVar
PER3_chr1_7779291_7850177	7806812	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0143 a0001c0003t0001g0143	1	410	0.0024	17	c.113 others(36): Show c.1137-2080_1137-2079insAAAAAAAAAAAAAAATA	PER3	ENSG00000049246.15	transcript	ENST00000377532.8	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
PERM1_chr1_970198_987093	984611	C C	CTTTATTT others(10): Show CTTTATTTATTTATTTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0013 a0002c0002t0002g0013	1	408	0.0025	17	c.-26 others(28): Show c.-2692_-2691insATAAATAAATAAATAAA	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding		2519		chr1	TogoVar
PERM1_chr1_970198_987093	984611	C C	CTTTATTT others(10): Show CTTTATTTATTTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0029 a0001c0001t0003g0029	1	408	0.0025	17	c.-26 others(28): Show c.-2692_-2691insAGAAAGAAATAAATAAA	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding		2519		chr1	TogoVar
PERM1_chr1_970198_987093	984611	C C	CTTTATTT others(10): Show CTTTATTTCTTTATTTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0255 a0002c0002t0002g0255	1	408	0.0025	17	c.-26 others(28): Show c.-2692_-2691insATAAATAAAGAAATAAA	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding		2519		chr1	TogoVar
PERM1_chr1_970198_987093	984611	C C	CTTTATTT others(10): Show CTTTATTTCTTTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG01070.hp2 HG01123.hp2 others(12): Show HG00597.hp2 HG01070.hp2 HG01123.hp2 HG01261.hp2 HG01496.hp1 HG01952.hp1 HG02630.hp2 HG02886.hp1 HG03831.hp1 HG04228.hp2 NA18980.hp1 NA19043.hp1 NA19068.hp1 NA20300.hp2 NA20752.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0002c0005 others(2): Show a0001c0001 a0002c0002 a0002c0005 a0003c0026 a0004c0004	a0001c0001t0001 a0002c0002t0002 a0002c0005t0008 others(2): Show a0001c0001t0001 a0002c0002t0002 a0002c0005t0008 a0003c0026t0002 a0004c0004t0002	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0124 others(7): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0124 a0001c0001t0001g0266 a0002c0002t0002g0006 a0002c0002t0002g0007 a0002c0002t0002g0258 a0002c0005t0008g0046 a0003c0026t0002g0251 a0004c0004t0002g0004	15	408	0.0368	17	c.-26 others(28): Show c.-2692_-2691insAGAAAGAAAGAAATAAA	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding		2519		chr1	TogoVar
PERP_chr6_138083505_138112419	138106903	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0074 a0004c0005t0074	a0004c0005t0074g0251 a0004c0005t0074g0251	1	430	0.0023	17	c.214 others(32): Show c.214+223_214+224insAAAAAAAAAAAAAAAAA	PERP	ENSG00000112378.12	transcript	ENST00000421351.4	protein_coding	1/2			chr6	TogoVar
PES1_chr22_30571625_30596910	30574607	G G	GCCGCGCC others(10): Show GCCGCGCCGCGCCCGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0037 a0002c0002t0001g0037	1	432	0.0023	17	c.24 others(28): Show c.2422_*2438dupGAGCGGGCGCGGCGCGG	PES1	ENSG00000100029.18	transcript	ENST00000354694.12	protein_coding		2017		chr22	TogoVar
PEX11G_chr19_7471875_7494035	7474786	T T	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0046 a0001c0004t0001g0046	1	416	0.0024	17	c.24 others(28): Show c.2415_*2416insGACACACACACACACAC	PEX11G	ENSG00000104883.8	transcript	ENST00000221480.6	protein_coding		2088		chr19	TogoVar
PEX12_chr17_35569795_35583571	35581295	T T	TATATATA others(10): Show TATATATAATATATACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	436	0.0023	17	c.-32 others(28): Show c.-3275_-3274insTTGTATATATTATATAT	PEX12	ENSG00000108733.11	transcript	ENST00000225873.9	protein_coding		2725		chr17	TogoVar
PEX12_chr17_35569795_35583571	35581306	A A	ACACAAAT others(10): Show ACACAAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	436	0.0023	17	c.-32 others(28): Show c.-3286_-3285insATATATATATATTTGTG	PEX12	ENSG00000108733.11	transcript	ENST00000225873.9	protein_coding		2736		chr17	TogoVar
PEX12_chr17_35569795_35583571	35581307	T T	TACAAATA others(10): Show TACAAATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	436	0.0023	17	c.-32 others(28): Show c.-3287_-3286insTATATATATATATTTGT	PEX12	ENSG00000108733.11	transcript	ENST00000225873.9	protein_coding		2737		chr17	TogoVar
PEX14_chr1_10469950_10635758	10520148	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02109.hp1 HG03579.hp1 others(3): Show HG02080.hp2 HG02109.hp1 HG03579.hp1 NA18959.hp2 NA18995.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0002t0001g0104 others(3): Show a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0002t0001g0104 a0001c0002t0001g0192 a0001c0002t0001g0195 a0001c0002t0001g0224	6	258	0.0233	17	c.85- others(34): Show c.85-16051_85-16050insTTTTTTTTTTTTTTTTT	PEX14	ENSG00000142655.13	transcript	ENST00000356607.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PEX14_chr1_10469950_10635758	10520153	T T	TTTTTTTT others(10): Show TTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0169 a0001c0002t0001g0169	1	258	0.0039	17	c.85- others(34): Show c.85-16051_85-16050insTTTTTTTGTTTTTTTTT	PEX14	ENSG00000142655.13	transcript	ENST00000356607.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PEX14_chr1_10469950_10635758	10577545	T T	TATATATA others(10): Show TATATATATATATTATAC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0108 a0001c0003t0001g0108	1	258	0.0039	17	c.170 others(36): Show c.170-21681_170-21680insTATACATATATATATAT	PEX14	ENSG00000142655.13	transcript	ENST00000356607.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PEX5L_chr3_179789958_180041937	180010246	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01175.hp2 HG02145.hp1 others(3): Show HG00140.hp2 HG01175.hp2 HG02145.hp1 HG02145.hp2 HG02602.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0018 others(3): Show a0001c0001t0003 a0001c0001t0011 a0001c0001t0018 a0001c0001t0041 a0001c0001t0053 a0001c0001t0054	a0001c0001t0003g0044 a0001c0001t0011g0030 a0001c0001t0018g0041 others(3): Show a0001c0001t0003g0044 a0001c0001t0011g0030 a0001c0001t0018g0041 a0001c0001t0041g0023 a0001c0001t0053g0038 a0001c0001t0054g0039	6	220	0.0273	17	c.21+ others(34): Show c.21+26316_21+26332dupAAAAAAAAAAAAAAAAA	PEX5L	ENSG00000114757.19	transcript	ENST00000467460.6	protein_coding	1/14			chr3	TogoVar
PEX5L_chr3_179789958_180041937	180022025	T T	TTGATTCT others(10): Show TTGATTCTGGTTTCTTAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp1 HG00735.hp2 others(36): Show HG00140.hp2 HG00639.hp1 HG00735.hp2 HG01069.hp2 HG01071.hp1 HG01167.hp1 HG01175.hp2 HG01256.hp1 HG01516.hp1 HG01884.hp1 HG02055.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02486.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02647.hp1 HG02698.hp1 HG02717.hp2 HG02723.hp2 HG02886.hp2 HG02965.hp2 HG02976.hp1 HG03098.hp2 HG03130.hp2 HG03225.hp2 HG03486.hp2 HG03516.hp1 HG06807.hp2 NA19000.hp1 NA19001.hp2 NA19030.hp1 NA19077.hp1 NA19240.hp1 NA20300.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(25): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0018 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0039 a0001c0001t0041 a0001c0001t0042 a0001c0001t0048 a0001c0001t0053 a0001c0001t0054 a0001c0001t0056 a0001c0001t0073 a0001c0001t0076 a0001c0001t0085 a0001c0001t0087 a0001c0001t0088	a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 others(36): Show a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0115 a0001c0001t0003g0044 a0001c0001t0004g0045 a0001c0001t0006g0025 a0001c0001t0009g0031 a0001c0001t0009g0034 a0001c0001t0009g0040 a0001c0001t0011g0030 a0001c0001t0018g0041 a0001c0001t0018g0042 a0001c0001t0018g0043 a0001c0001t0021g0048 a0001c0001t0022g0029 a0001c0001t0024g0024 a0001c0001t0026g0046 a0001c0001t0027g0007 a0001c0001t0027g0049 a0001c0001t0029g0010 a0001c0001t0033g0036 a0001c0001t0035g0032 a0001c0001t0036g0035 a0001c0001t0039g0027 a0001c0001t0041g0023 a0001c0001t0042g0005 a0001c0001t0048g0047 a0001c0001t0053g0038 a0001c0001t0054g0039 a0001c0001t0056g0009 a0001c0001t0073g0037 a0001c0001t0076g0028 a0001c0001t0085g0033 a0001c0001t0087g0026 a0001c0001t0088g0011	39	220	0.1773	17	c.21+ others(34): Show c.21+14553_21+14554insGTAAGAAACCAGAATCA	PEX5L	ENSG00000114757.19	transcript	ENST00000467460.6	protein_coding	1/14			chr3	TogoVar
PEX7_chr6_136817592_136918934	136837361	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	330	0.0030	17	c.340 others(34): Show c.340-8240_340-8239insAAAAAAAAAAAAAAAAA	PEX7	ENSG00000112357.14	transcript	ENST00000318471.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
PFDN1_chr5_140240035_140308101	140279999	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAACC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01071.hp1 HG01081.hp2 others(36): Show HG00323.hp2 HG01071.hp1 HG01081.hp2 HG01109.hp2 HG01192.hp1 HG01243.hp1 HG01261.hp1 HG01496.hp1 HG01884.hp1 HG02055.hp1 HG02109.hp2 HG02148.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp2 HG02602.hp2 HG02647.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02896.hp2 HG02976.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03486.hp2 HG03516.hp1 NA18747.hp1 NA18906.hp1 NA18981.hp1 NA18986.hp2 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19068.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0027 others(35): Show a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0197 a0001c0001t0001g0227	39	330	0.1182	17	c.285 others(34): Show c.285+1449_285+1450insGGTTTTTTTTTTTTTTT	PFDN1	ENSG00000113068.10	transcript	ENST00000261813.9	protein_coding	3/3			chr5	TogoVar
PFDN1_chr5_140240035_140308101	140280000	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAACC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	330	0.0030	17	c.285 others(34): Show c.285+1448_285+1449insGGTTTTTTTTTTTTTTT	PFDN1	ENSG00000113068.10	transcript	ENST00000261813.9	protein_coding	3/3			chr5	TogoVar
PFDN1_chr5_140240035_140308101	140280014	C C	CCAAAAAA others(10): Show CCAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	330	0.0030	17	c.285 others(34): Show c.285+1434_285+1435insTTTTTTTTTTTTTTTTG	PFDN1	ENSG00000113068.10	transcript	ENST00000261813.9	protein_coding	3/3			chr5	TogoVar
PFKFB2_chr1_207048275_207082817	207063888	G G	GGGTGTGT others(10): Show GGGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0197 a0001c0001t0003g0197	1	342	0.0029	17	c.507 others(30): Show c.507+60_507+61insGTGTGTGTGTGTGTGTG	PFKFB2	ENSG00000123836.15	transcript	ENST00000367080.8	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr1	TogoVar

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