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 per page.

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
PEX5_chr12_7184686_7216459	7196901	A A	ATATGTCA others(16): Show ATATGTCACATATAATGTAATAAT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0266 a0001c0001t0002g0266	1	428	0.0023	23	c.449 others(40): Show c.449-2107_449-2106insGTCACATATAATGTAATAATTAT	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX5_chr12_7184686_7216459	7197232	T T	TATGTAAT others(16): Show TATGTAATAATTATGTCATATATA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0323 a0002c0002t0005g0323	1	428	0.0023	23	c.449 others(40): Show c.449-1766_449-1765insGTCATATATAATGTAATAATTAT	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX5_chr12_7184686_7216459	7197291	A A	ATATGTCA others(16): Show ATATGTCATATATAATGTAATAAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0224 a0001c0001t0004g0224	1	428	0.0023	23	c.449 others(40): Show c.449-1717_449-1716insGTCATATATAATGTAATAATTAT	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX5_chr12_7184686_7216459	7197316	T T	TTATATAT others(16): Show TTATATATGTCATATAATGTAATC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp2 HG00642.hp1 others(46): Show HG00099.hp1 HG00438.hp2 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG01099.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG02132.hp2 HG02148.hp2 HG02257.hp2 HG02602.hp1 HG02602.hp2 HG02698.hp2 HG02738.hp2 HG02976.hp2 HG03017.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04228.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18949.hp1 NA18952.hp2 NA18954.hp2 NA18962.hp2 NA18964.hp2 NA18968.hp1 NA18972.hp1 NA18973.hp1 NA18975.hp2 NA18983.hp2 NA18989.hp2 NA18994.hp1 NA18994.hp2 NA19005.hp2 NA19011.hp2 NA19064.hp2 NA19066.hp2 NA19074.hp2 NA19075.hp1 NA19076.hp2 NA19078.hp1 NA19085.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0004c0004 a0007c0007 a0001c0001 a0004c0004 a0007c0007	a0001c0001t0003 a0001c0001t0013 a0004c0004t0003 others(1): Show a0001c0001t0003 a0001c0001t0013 a0004c0004t0003 a0007c0007t0003	a0001c0001t0003g0005 a0001c0001t0003g0010 a0001c0001t0003g0016 others(33): Show a0001c0001t0003g0005 a0001c0001t0003g0010 a0001c0001t0003g0016 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0203 a0001c0001t0003g0300 a0001c0001t0003g0301 a0001c0001t0013g0187 a0004c0004t0003g0309 a0007c0007t0003g0197	49	428	0.1145	23	c.449 others(40): Show c.449-1695_449-1694insTATATATGTCATATAATGTAATC	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15			chr12	TogoVar
PEX5_chr12_7184686_7216459	7197365	T T	TTATATAT others(16): Show TTATATATGTCATATACAATGTAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0316 a0002c0002t0005g0316	1	428	0.0023	23	c.449 others(40): Show c.449-1643_449-1621dupTATATGTCATATACAATGTAATA	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PFKFB3_chr10_6197932_6240532	6208371	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0333 a0001c0001t0007g0333	1	432	0.0023	23	c.76+ others(38): Show c.76+5057_76+5058insTTTTTTTTTTTTTTTTTTTTTTT	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3085308	C C	CCCCCTCC others(16): Show CCCCCTCCCCAGCACAGTCCCCCA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0002 a0001c0038t0002	a0001c0038t0002g0325 a0001c0038t0002g0325	1	402	0.0025	23	c.186 others(40): Show c.186+2847_186+2848insCCCCTCCCCAGCACAGTCCCCCA	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21			chr10	TogoVar
PFKP_chr10_3062548_3141802	3085333	C C	CCCCCTCC others(16): Show CCCCCTCCCCAGCACAGTCCCCCA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03834.hp1 NA18943.hp2 HG02738.hp1 HG03834.hp1 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0006 a0001c0005t0010 a0001c0001t0002 a0001c0005t0006 a0001c0005t0010	a0001c0001t0002g0191 a0001c0005t0006g0285 a0001c0005t0010g0192 a0001c0001t0002g0191 a0001c0005t0006g0285 a0001c0005t0010g0192	3	402	0.0075	23	c.186 others(40): Show c.186+2872_186+2873insCCCCTCCCCAGCACAGTCCCCCA	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21			chr10	TogoVar
PFKP_chr10_3062548_3141802	3085358	C C	CCCCCTCC others(16): Show CCCCCTCCCCAGCACAGTCCCCCA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03195.hp2 HG02559.hp2 HG03195.hp2	a0001 a0001	a0001c0004 a0001c0017 a0001c0004 a0001c0017	a0001c0004t0004 a0001c0017t0011 a0001c0004t0004 a0001c0017t0011	a0001c0004t0004g0015 a0001c0017t0011g0003 a0001c0004t0004g0015 a0001c0017t0011g0003	2	402	0.0050	23	c.186 others(40): Show c.186+2897_186+2898insCCCCTCCCCAGCACAGTCCCCCA	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21			chr10	TogoVar
PFKP_chr10_3062548_3141802	3085753	T T	TCTCCAGC others(16): Show TCTCCAGCACAGTCCCCCACTCCA	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0070 a0001c0001t0003g0070	1	402	0.0025	23	c.186 others(40): Show c.186+3306_186+3307insCCCACTCCACTCCAGCACAGTCC	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PGAM5_chr12_132705842_132727734	132720098	T T	TGTCGATC others(16): Show TGTCGATCCCAGTCATCGATTCAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp1 others(251): Show HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp2 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19058.hp1 NA19058.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0002c0003 a0003c0006 a0004c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(40): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0018 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0031 a0001c0001t0032 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0047 a0001c0001t0048 a0001c0002t0004 a0001c0002t0017 a0001c0002t0030 a0001c0002t0044 a0001c0002t0045 a0001c0002t0046 a0001c0004t0019 a0001c0008t0007 a0002c0003t0007 a0002c0003t0020 a0002c0003t0021 a0003c0006t0008 a0004c0009t0003	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(151): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0002g0104 a0001c0001t0003g0003 a0001c0001t0003g0007 a0001c0001t0003g0012 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0177 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0185 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0004g0019 a0001c0001t0004g0149 a0001c0001t0007g0036 a0001c0001t0007g0114 a0001c0001t0007g0115 a0001c0001t0007g0116 a0001c0001t0007g0117 a0001c0001t0007g0154 a0001c0001t0007g0155 a0001c0001t0007g0162 a0001c0001t0007g0176 a0001c0001t0008g0006 a0001c0001t0008g0010 a0001c0001t0008g0042 a0001c0001t0008g0080 a0001c0001t0008g0132 a0001c0001t0009g0053 a0001c0001t0011g0023 a0001c0001t0011g0126 a0001c0001t0012g0186 a0001c0001t0013g0184 a0001c0001t0013g0188 a0001c0001t0013g0192 a0001c0001t0014g0156 a0001c0001t0014g0159 a0001c0001t0018g0178 a0001c0001t0018g0214 a0001c0001t0022g0147 a0001c0001t0023g0002 a0001c0001t0024g0002 a0001c0001t0025g0173 a0001c0001t0026g0142 a0001c0001t0027g0129 a0001c0001t0028g0001 a0001c0001t0029g0018 a0001c0001t0031g0012 a0001c0001t0032g0003 a0001c0001t0038g0042 a0001c0001t0039g0002 a0001c0001t0040g0122 a0001c0001t0041g0119 a0001c0001t0042g0118 a0001c0001t0043g0187 a0001c0001t0047g0195 a0001c0001t0048g0003 a0001c0002t0004g0019 a0001c0002t0004g0024 a0001c0002t0004g0046 a0001c0002t0004g0047 a0001c0002t0004g0148 a0001c0002t0004g0150 a0001c0002t0004g0151 a0001c0002t0004g0153 a0001c0002t0004g0222 a0001c0002t0004g0223 a0001c0002t0004g0225 a0001c0002t0004g0226 a0001c0002t0004g0227 a0001c0002t0004g0228 a0001c0002t0017g0046 a0001c0002t0017g0146 a0001c0002t0030g0064 a0001c0002t0044g0224 a0001c0002t0045g0175 a0001c0002t0046g0229 a0001c0004t0019g0172 a0001c0008t0007g0158 a0002c0003t0007g0025 a0002c0003t0007g0157 a0002c0003t0007g0160 a0002c0003t0007g0163 a0002c0003t0020g0161 a0002c0003t0021g0164 a0003c0006t0008g0048 a0004c0009t0003g0183	254	394	0.6447	23	c.720 others(38): Show c.720-568_720-546dupTCATCGATTCACGTCGATCCCAG	PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
PGAP1_chr2_196828004_196931707	196832775	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0145 a0003c0005t0002g0145	1	188	0.0053	23	c.84 others(34): Show c.8458_*8459insAAAAAAAAAAAAAAAAAAAAAAA	PGAP1	ENSG00000197121.15	transcript	ENST00000354764.9	protein_coding		228		chr2	TogoVar
PGAP1_chr2_196828004_196931707	196927409	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG03225.hp1 HG02976.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0165 a0001c0001t0002g0143 a0001c0001t0002g0165	2	188	0.0106	23	c.-81 others(32): Show c.-816_-794dupTTTTTTTTTTTTTTTTTTTTTTT	PGAP1	ENSG00000197121.15	transcript	ENST00000354764.9	protein_coding		703		chr2	TogoVar
PGBD4_chr15_34097083_34113686	34106579	T T	TCACATGG others(16): Show TCACATGGTACAATATTCAAAAGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(176): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02056.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02293.hp1 HG02293.hp2 HG02602.hp1 HG02602.hp2 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02970.hp1 HG03017.hp2 HG03130.hp2 HG03491.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp2 NA18612.hp1 NA18939.hp1 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18968.hp2 NA18969.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp2 NA18974.hp2 NA18977.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp2 NA18988.hp2 NA18990.hp1 NA18992.hp1 NA18993.hp1 NA18994.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19057.hp1 NA19059.hp2 NA19060.hp2 NA19063.hp2 NA19064.hp1 NA19066.hp2 NA19068.hp1 NA19074.hp2 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19085.hp1 NA19085.hp2 NA19088.hp2 NA19089.hp2 NA19090.hp2 NA20752.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0006 a0001c0001 a0001c0004 a0003c0006	a0001c0001t0001 a0001c0001t0010 a0001c0001t0011 others(14): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0022 a0001c0001t0024 a0001c0001t0041 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0055 a0001c0004t0001 a0003c0006t0022	a0001c0001t0001g0000 a0001c0001t0010g0000 a0001c0001t0011g0000 others(14): Show a0001c0001t0001g0000 a0001c0001t0010g0000 a0001c0001t0011g0000 a0001c0001t0015g0000 a0001c0001t0018g0000 a0001c0001t0019g0000 a0001c0001t0022g0000 a0001c0001t0024g0000 a0001c0001t0041g0000 a0001c0001t0044g0000 a0001c0001t0045g0000 a0001c0001t0046g0000 a0001c0001t0047g0000 a0001c0001t0048g0000 a0001c0001t0055g0000 a0001c0004t0001g0000 a0003c0006t0022g0000	179	400	0.4475	23	c.23 others(34): Show c.2337_*2359dupCACATGGTACAATATTCAAAAGG	PGBD4	ENSG00000182405.6	transcript	ENST00000397766.4	protein_coding	1/1	2360	INFO_REALIGN_3_PRIME	chr15	TogoVar
PGBD5_chr1_230309490_230431332	230404629	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0089 a0001c0001t0089	a0001c0001t0089g0134 a0001c0001t0089g0134	1	288	0.0035	23	c.331 others(42): Show c.331+20968_331+20969insATATATATATATATATATATATA	PGBD5	ENSG00000177614.11	transcript	ENST00000391860.7	protein_coding	1/6			chr1	TogoVar
PGGT1B_chr5_115199012_115267877	115238291	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0279 a0001c0001t0054g0279	1	372	0.0027	23	c.328 others(38): Show c.328-305_328-283dupAAAAAAAAAAAAAAAAAAAAAAA	PGGT1B	ENSG00000164219.10	transcript	ENST00000419445.6	protein_coding	3/8			chr5	TogoVar
PGM1_chr1_63588411_63665245	63590559	T T	TAAACCCT others(16): Show TAAACCCTTCCACCTAACATCTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	366	0.0027	23	c.-29 others(34): Show c.-2930_-2929insAAACCCTTCCACCTAACATCTCA	PGM1	ENSG00000079739.17	transcript	ENST00000371084.8	protein_coding		2851		chr1	TogoVar
PGM2L1_chr11_74325316_74403433	74355553	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0049 a0004c0005t0049	a0004c0005t0049g0120 a0004c0005t0049g0120	1	380	0.0026	23	c.556 others(40): Show c.556-4000_556-3978dupTTTTTTTTTTTTTTTTTTTTTTT	PGM2L1	ENSG00000165434.8	transcript	ENST00000298198.5	protein_coding	5/13			chr11	TogoVar
PGPEP1_chr19_18335598_18374950	18338732	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19067.hp2 NA19043.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0253 a0001c0001t0061 a0001c0001t0253	a0001c0001t0061g0012 a0001c0001t0253g0356 a0001c0001t0061g0012 a0001c0001t0253g0356	2	412	0.0049	23	c.-19 others(34): Show c.-1950_-1949insAAAAAAAAAAAAAAAAAAAAAAA	PGPEP1	ENSG00000130517.14	transcript	ENST00000269919.11	protein_coding		1865		chr19	TogoVar
PGPEP1_chr19_18335598_18374950	18352266	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0054 a0001c0001t0018g0054	1	412	0.0024	23	c.88- others(38): Show c.88-3608_88-3607insAAAAAAAAAAAAAAAAAAAAAAA	PGPEP1	ENSG00000130517.14	transcript	ENST00000269919.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
PGS1_chr17_78373649_78429659	78425756	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0340 a0001c0001t0001g0340	1	398	0.0025	23	c.17 others(34): Show c.1706_*1707insTTTTTTTTTTTTTTTTTTTTTTT	PGS1	ENSG00000087157.19	transcript	ENST00000262764.11	protein_coding		1098		chr17	TogoVar
PHACTR1_chr6_12711767_13292837	13195757	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0076 a0001c0001t0003g0076	1	108	0.0093	23	c.665 others(42): Show c.665-10057_665-10035dupAAAAAAAAAAAAAAAAAAAAAAA	PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHACTR2_chr6_143672965_143836185	143704120	T T	TGTGTGTG others(16): Show TGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0182 a0001c0001t0065g0182	1	310	0.0032	23	c.47- others(38): Show c.47-7893_47-7892insTGTGTGTGTGTGTGTGTGTGGTG	PHACTR2	ENSG00000112419.15	transcript	ENST00000440869.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHACTR3_chr20_59599540_59852711	59622981	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp1 HG01884.hp2 others(9): Show HG00738.hp1 HG00741.hp1 HG01884.hp2 HG02071.hp2 HG02615.hp1 HG02647.hp2 HG02895.hp2 HG02897.hp2 HG03654.hp2 NA18906.hp2 NA19005.hp2 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0004 a0001c0001 a0001c0005 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0005t0003 a0003c0004t0001	a0001c0001t0001g0036 a0001c0001t0001g0043 a0001c0001t0001g0093 others(9): Show a0001c0001t0001g0036 a0001c0001t0001g0043 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0185 a0001c0001t0001g0202 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0004g0097 a0001c0005t0003g0035 a0003c0004t0001g0096	12	250	0.0480	23	c.118 others(42): Show c.118+17869_118+17870insAAAAAAAAAAAAAAAAAAAAAAA	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHACTR3_chr20_59599540_59852711	59635134	T T	TCTTTCTT others(16): Show TCTTTCTTTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp2 HG00642.hp2 others(3): Show HG00544.hp2 HG00597.hp2 HG00642.hp2 HG01257.hp1 NA18994.hp1 NA19043.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0005c0006t0001	a0001c0001t0001g0026 a0001c0001t0001g0033 a0001c0001t0001g0106 others(3): Show a0001c0001t0001g0026 a0001c0001t0001g0033 a0001c0001t0001g0106 a0001c0001t0003g0039 a0001c0001t0006g0074 a0005c0006t0001g0151	6	250	0.0240	23	c.118 others(42): Show c.118+30010_118+30011insTTCTTTCTTTCTTTCCTTTCTTT	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHACTR3_chr20_59599540_59852711	59635138	T T	TCTTTCTT others(16): Show TCTTTCTTTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01433.hp1 HG02698.hp2 others(2): Show HG01256.hp1 HG01433.hp1 HG02698.hp2 HG04228.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0022 a0001c0001t0001 a0001c0001t0021 a0001c0001t0022	a0001c0001t0001g0032 a0001c0001t0001g0085 a0001c0001t0001g0112 others(2): Show a0001c0001t0001g0032 a0001c0001t0001g0085 a0001c0001t0001g0112 a0001c0001t0021g0143 a0001c0001t0022g0049	5	250	0.0200	23	c.118 others(42): Show c.118+30014_118+30015insTTCTTTCTTTCTTTCCTTTCTTT	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHACTR3_chr20_59599540_59852711	59635138	T T	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCCTTC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0020 a0004c0008t0020	a0004c0008t0020g0144 a0004c0008t0020g0144	1	250	0.0040	23	c.118 others(42): Show c.118+30006_118+30007insTTCTTTCTTTCTTTCTTTCCTTC	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12			chr20	TogoVar
PHAF1_chr16_67104941_67153544	67108679	T T	TATCTATC others(16): Show TATCTATCTATCTATCTATCTATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG02895.hp2 HG03491.hp1 others(2): Show HG01109.hp2 HG02895.hp2 HG03491.hp1 HG03688.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0204 others(2): Show a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207	5	230	0.0217	23	c.-14 others(34): Show c.-1497_-1496insATCTATCTATCTATCTATCTATC	PHAF1	ENSG00000125149.12	transcript	ENST00000219139.8	protein_coding		1261		chr16	TogoVar
PHAX_chr5_126595947_126632252	126604274	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0038 a0001c0001t0007g0038	1	382	0.0026	23	c.710 others(38): Show c.710+110_710+111insTTTTTTTTTTTTTTTTTTTTTTT	PHAX	ENSG00000164902.14	transcript	ENST00000297540.5	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
PHAX_chr5_126595947_126632252	126609095	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	382	0.0026	23	c.831 others(38): Show c.831+612_831+634dupTTTTTTTTTTTTTTTTTTTTTTT	PHAX	ENSG00000164902.14	transcript	ENST00000297540.5	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
PHEX_chrX_22027325_22256310	22185756	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0140 a0004c0006t0140	a0004c0006t0140g0123 a0004c0006t0140g0123	1	231	0.0043	23	c.158 others(42): Show c.1587-4671_1587-4670insTTTTTTTTTTTTTTTTTTTTTTT	PHEX	ENSG00000102174.10	transcript	ENST00000379374.5	protein_coding	14/21		INFO_REALIGN_3_PRIME	chrX	TogoVar
PHEX_chrX_22027325_22256310	22249451	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0101 a0001c0001t0101	a0001c0001t0101g0045 a0001c0001t0101g0045	1	231	0.0043	23	c.14 others(34): Show c.1498_*1499insTATATATATATATATATATATAT	PHEX	ENSG00000102174.10	transcript	ENST00000379374.5	protein_coding	22/22	1499		chrX	TogoVar
PHEX_chrX_22027325_22256310	22249455	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0173 a0001c0001t0065g0173	1	231	0.0043	23	c.15 others(34): Show c.1502_*1503insTATATATATATATATATATATAT	PHEX	ENSG00000102174.10	transcript	ENST00000379374.5	protein_coding	22/22	1503		chrX	TogoVar
PHF12_chr17_28900250_28956518	28923653	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	232	0.0043	23	c.715 others(38): Show c.715+255_715+256insTTTTTTTTTTTTTTTTTTTTTTT	PHF12	ENSG00000109118.14	transcript	ENST00000332830.9	protein_coding	4/14			chr17	TogoVar
PHF14_chr7_10968872_11174618	10973700	G G	GGGATCTC others(16): Show GGGATCTCTGCTCCGCCTTGGCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp2 NA18957.hp1 NA19056.hp1 others(3): Show NA18956.hp2 NA18957.hp1 NA19056.hp1 NA19066.hp1 NA19066.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0282 a0001c0001t0001g0283 others(3): Show a0001c0001t0001g0273 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286	6	298	0.0201	23	c.-62 others(32): Show c.-624_-623insGGATCTCTGCTCCGCCTTGGCAC	PHF14	ENSG00000106443.17	transcript	ENST00000634607.2	protein_coding		171		chr7	TogoVar
PHF14_chr7_10968872_11174618	10985636	C C	CCGGTTTT others(16): Show CCGGTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	298	0.0034	23	c.900 others(40): Show c.900+2477_900+2478insCGGTTTTTTTTTTTTTTTTTTTT	PHF14	ENSG00000106443.17	transcript	ENST00000634607.2	protein_coding	3/17			chr7	TogoVar
PHF19_chr9_120850651_120882188	120872037	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0293 a0001c0001t0003g0293	1	408	0.0025	23	c.269 others(40): Show c.269-1522_269-1500dupTTTTTTTTTTTTTTTTTTTTTTT	PHF19	ENSG00000119403.15	transcript	ENST00000373896.8	protein_coding	3/14			chr9	TogoVar
PHF20_chr20_35767015_35955370	35904767	C C	CTCCTCCT others(16): Show CTCCTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01074.hp1 HG01192.hp2 others(26): Show HG00423.hp2 HG01074.hp1 HG01192.hp2 HG01515.hp2 HG01517.hp1 HG02015.hp1 HG02109.hp1 HG02293.hp2 HG02451.hp1 HG02615.hp1 HG02895.hp1 HG03195.hp1 HG03490.hp2 HG03491.hp2 HG03654.hp1 HG03704.hp1 HG04115.hp2 HG04199.hp2 HG04228.hp1 NA18906.hp2 NA18961.hp2 NA18962.hp2 NA18986.hp2 NA18990.hp1 NA19060.hp1 NA19064.hp1 NA19067.hp2 NA19082.hp2 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0004t0011 a0002c0002t0003	a0001c0001t0002g0150 a0001c0001t0002g0154 a0001c0001t0002g0156 others(26): Show a0001c0001t0002g0150 a0001c0001t0002g0154 a0001c0001t0002g0156 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0161 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0170 a0001c0001t0002g0173 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0002g0193 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0202 a0001c0001t0004g0104 a0001c0001t0007g0112 a0001c0001t0007g0181 a0001c0004t0011g0204 a0002c0002t0003g0126 a0002c0002t0003g0141 a0002c0002t0003g0142 a0002c0002t0003g0144 a0002c0002t0003g0148	29	206	0.1408	23	c.156 others(42): Show c.1561+5123_1561+5124insCCTTCCTTCCTTCCTTCCTTCCT	PHF20	ENSG00000025293.17	transcript	ENST00000374012.8	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHF21A_chr11_45924319_46126454	45971890	C C	CTTTCTTT others(16): Show CTTTCTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01346.hp1 HG01433.hp1 others(24): Show HG00738.hp1 HG01346.hp1 HG01433.hp1 HG01952.hp1 HG02015.hp2 HG02074.hp1 HG02559.hp1 HG02602.hp1 HG02615.hp2 HG02723.hp2 HG02818.hp2 HG02965.hp2 HG03098.hp2 HG03471.hp1 HG03942.hp2 NA18970.hp2 NA18989.hp1 NA18994.hp1 NA18995.hp1 NA19000.hp1 NA19009.hp2 NA19010.hp2 NA19054.hp2 NA19077.hp2 NA19082.hp1 NA19091.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0020 a0001c0001t0040 a0001c0001t0053 a0001c0001t0055	a0001c0001t0001g0119 a0001c0001t0001g0169 a0001c0001t0001g0179 others(24): Show a0001c0001t0001g0119 a0001c0001t0001g0169 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0221 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0245 a0001c0001t0004g0098 a0001c0001t0004g0100 a0001c0001t0004g0101 a0001c0001t0004g0161 a0001c0001t0006g0198 a0001c0001t0006g0208 a0001c0001t0020g0239 a0001c0001t0020g0240 a0001c0001t0040g0025 a0001c0001t0053g0105 a0001c0001t0055g0167	27	280	0.0964	23	c.361 others(38): Show c.361-524_361-523insAAAAAAAAAAAAAAAAAAAGAAA	PHF21A	ENSG00000135365.17	transcript	ENST00000676320.1	protein_coding	7/18			chr11	TogoVar
PHF21A_chr11_45924319_46126454	45986084	A A	ACACACAC others(16): Show ACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA19009.hp1 NA19085.hp2 NA18980.hp2 NA19009.hp1 NA19085.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0003 a0002c0002t0047 a0002c0002t0002 a0002c0002t0003 a0002c0002t0047	a0002c0002t0002g0051 a0002c0002t0003g0125 a0002c0002t0047g0123 a0002c0002t0002g0051 a0002c0002t0003g0125 a0002c0002t0047g0123	3	280	0.0107	23	c.154 others(40): Show c.154-6119_154-6118insGTGTGTGTGTGTGTGTGTGTGTG	PHF21A	ENSG00000135365.17	transcript	ENST00000676320.1	protein_coding	6/18			chr11	TogoVar
PHF2_chr9_93571584_93684587	93627492	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02080.hp2 HG01884.hp1 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0007 a0001c0001t0001 a0001c0003t0007	a0001c0001t0001g0323 a0001c0003t0007g0217 a0001c0001t0001g0323 a0001c0003t0007g0217	2	350	0.0057	23	c.99- others(38): Show c.99-2462_99-2461insTTTTTTTTTTTTTTTTTTTTTTT	PHF2	ENSG00000197724.12	transcript	ENST00000359246.9	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
PHF3_chr6_63630802_63731011	63727727	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0251 a0001c0001t0033g0251	1	320	0.0031	23	c.14 others(36): Show c.14019_*14020insTATATATATATATATATATATAT	PHF3	ENSG00000118482.12	transcript	ENST00000262043.8	protein_coding		1717		chr6	TogoVar
PHF3_chr6_63630802_63731011	63727737	A A	AAAAATAT others(16): Show AAAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG01884.hp2 HG02258.hp2 others(2): Show HG00558.hp1 HG01884.hp2 HG02258.hp2 HG02615.hp2 HG02647.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0011 a0002c0002t0016 a0001c0001t0003 a0002c0002t0011 a0002c0002t0016	a0001c0001t0003g0040 a0001c0001t0003g0056 a0001c0001t0003g0101 others(2): Show a0001c0001t0003g0040 a0001c0001t0003g0056 a0001c0001t0003g0101 a0002c0002t0011g0002 a0002c0002t0016g0025	5	320	0.0156	23	c.14 others(36): Show c.14029_*14030insAAAATATATATATATATATATAT	PHF3	ENSG00000118482.12	transcript	ENST00000262043.8	protein_coding		1727		chr6	TogoVar
PHF3_chr6_63630802_63731011	63727737	A A	AAATATAT others(16): Show AAATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0066 a0001c0001t0006g0066	1	320	0.0031	23	c.14 others(36): Show c.14029_*14030insAATATATATATATATATATATAT	PHF3	ENSG00000118482.12	transcript	ENST00000262043.8	protein_coding		1727		chr6	TogoVar
PHF3_chr6_63630802_63731011	63727737	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 NA18974.hp1 NA20752.hp1 HG01433.hp1 NA18974.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0003 a0001c0001t0012	a0001c0001t0003g0027 a0001c0001t0003g0049 a0001c0001t0012g0078 a0001c0001t0003g0027 a0001c0001t0003g0049 a0001c0001t0012g0078	3	320	0.0094	23	c.14 others(36): Show c.14029_*14030insTATATATATATATATATATATAT	PHF3	ENSG00000118482.12	transcript	ENST00000262043.8	protein_coding		1727		chr6	TogoVar
PHF8_chrX_53931680_54049473	54009844	G G	GGAAAAAA others(16): Show GGAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0134 a0001c0001t0002g0134	1	186	0.0054	23	c.946 others(40): Show c.946+1277_946+1278insTTTTTTTTTTTTTTTTTTTTTTC	PHF8	ENSG00000172943.21	transcript	ENST00000338154.11	protein_coding	8/21			chrX	TogoVar
PHLDB2_chr3_111854265_111981517	111866014	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01081.hp2 NA20129.hp2 HG00735.hp2 HG01081.hp2 NA20129.hp2	a0001 a0001	a0001c0004 a0001c0005 a0001c0022 a0001c0004 a0001c0005 a0001c0022	a0001c0004t0016 a0001c0005t0004 a0001c0022t0011 a0001c0004t0016 a0001c0005t0004 a0001c0022t0011	a0001c0004t0016g0176 a0001c0005t0004g0175 a0001c0022t0011g0174 a0001c0004t0016g0176 a0001c0005t0004g0175 a0001c0022t0011g0174	3	286	0.0105	23	c.-15 others(40): Show c.-15+6440_-15+6462dupTTTTTTTTTTTTTTTTTTTTTTT	PHLDB2	ENSG00000144824.21	transcript	ENST00000431670.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
PHLDB3_chr19_43470103_43509746	43487591	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19077.hp2 NA19066.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0072 a0001c0001t0002g0053 a0001c0001t0002g0072	2	396	0.0051	23	c.115 others(40): Show c.1150-469_1150-468insGTTTTTTTTTTTTTTTTTTTTTT	PHLDB3	ENSG00000176531.11	transcript	ENST00000292140.10	protein_coding	9/15			chr19	TogoVar
PHLPP1_chr18_62710541_62985433	62766070	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0145 a0001c0002t0001g0145	1	192	0.0052	23	c.157 others(44): Show c.1576+48811_1576+48812insTATATATATATATATATATATAT	PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	1/16			chr18	TogoVar
PHLPP1_chr18_62710541_62985433	62766076	A A	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01168.hp1 HG01169.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0031 a0001c0009t0001g0046 a0001c0009t0001g0031 a0001c0009t0001g0046	2	192	0.0104	23	c.157 others(44): Show c.1576+48818_1576+48819insAAAAATATATATATATATATATA	PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr18	TogoVar

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