Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PDZRN4_chr12_41183320_41579745	41383969	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02970.hp2 HG03540.hp1 HG02055.hp2 HG02970.hp2 HG03540.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0008c0059 a0001c0001 a0002c0002 a0008c0059	a0001c0001t0001 a0002c0002t0001 a0008c0059t0001 a0001c0001t0001 a0002c0002t0001 a0008c0059t0001	a0001c0001t0001g0086 a0002c0002t0001g0181 a0008c0059t0001g0160 a0001c0001t0001g0086 a0002c0002t0001g0181 a0008c0059t0001g0160	3	206	0.0146	-19	c.844 others(40): Show c.844-122454_844-122436delTTTTTTTTTTTTTTTTTTT	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDZRN4_chr12_41183320_41579745	41402133	ATATATAT others(12): Show ATATATATACACACACTGAG	A A	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02622.hp1 HG02895.hp2 others(2): Show HG02148.hp2 HG02622.hp1 HG02895.hp2 NA18522.hp2 NA19056.hp1	a0004 a0008 a0016 others(1): Show a0004 a0008 a0016 a0026	a0004c0005 a0004c0031 a0008c0025 others(2): Show a0004c0005 a0004c0031 a0008c0025 a0016c0056 a0026c0046	a0004c0005t0001 a0004c0031t0001 a0008c0025t0001 others(2): Show a0004c0005t0001 a0004c0031t0001 a0008c0025t0001 a0016c0056t0001 a0026c0046t0001	a0004c0005t0001g0083 a0004c0031t0001g0001 a0008c0025t0001g0148 others(2): Show a0004c0005t0001g0083 a0004c0031t0001g0001 a0008c0025t0001g0148 a0016c0056t0001g0145 a0026c0046t0001g0070	5	206	0.0243	-19	c.844 others(40): Show c.844-104314_844-104296delCACACACTGAGTATATATA	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDZRN4_chr12_41183320_41579745	41402605	ATATATAT others(12): Show ATATATATATATATACTGAG	A A	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0014 a0014	a0014c0061 a0014c0061	a0014c0061t0001 a0014c0061t0001	a0014c0061t0001g0173 a0014c0061t0001g0173	1	206	0.0049	-19	c.844 others(40): Show c.844-103836_844-103818delCTGAGTATATATATATATA	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEAK1_chr15_77103158_77425104	77251740	ATGCCATG others(12): Show ATGCCATGTGAATGTACTGT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02809.hp2 HG06807.hp1 HG02257.hp2 HG02809.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0041 a0001c0001t0007 a0001c0001t0041	a0001c0001t0007g0205 a0001c0001t0007g0260 a0001c0001t0041g0206 a0001c0001t0007g0205 a0001c0001t0007g0260 a0001c0001t0041g0206	3	326	0.0092	-19	c.-11 others(36): Show c.-115+608_-115+626delACAGTACATTCACATGGCA	PEAK1	ENSG00000173517.11	transcript	ENST00000682557.1	protein_coding	6/9			chr15	TogoVar
PEAK1_chr15_77103158_77425104	77298197	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01099.hp1 HG01175.hp1 others(1): Show HG01074.hp1 HG01099.hp1 HG01175.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0066 a0001c0001t0001g0074 a0001c0001t0001g0076 others(1): Show a0001c0001t0001g0066 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0016g0045	4	326	0.0123	-19	c.-60 others(40): Show c.-602-11712_-602-11694delAAAAAAAAAAAAAAAAAAA	PEAK1	ENSG00000173517.11	transcript	ENST00000682557.1	protein_coding	2/9			chr15	TogoVar
PEAK1_chr15_77103158_77425104	77305150	GGAAGGAA others(12): Show GGAAGGAAGGAAGGAGGGAA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00423.hp1 others(75): Show HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01167.hp1 HG01192.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01358.hp2 HG01433.hp2 HG01515.hp2 HG01891.hp2 HG01943.hp2 HG02083.hp1 HG02280.hp2 HG02300.hp2 HG02602.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG02896.hp1 HG02922.hp2 HG03017.hp1 HG03453.hp1 HG03654.hp2 HG03710.hp1 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18612.hp1 NA18747.hp2 NA18941.hp2 NA18942.hp1 NA18945.hp1 NA18947.hp2 NA18949.hp2 NA18951.hp2 NA18952.hp2 NA18955.hp1 NA18964.hp1 NA18966.hp2 NA18968.hp1 NA18980.hp1 NA18985.hp1 NA18989.hp1 NA18990.hp1 NA18992.hp1 NA18994.hp1 NA18995.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19011.hp2 NA19030.hp1 NA19060.hp1 NA19065.hp1 NA19084.hp1 NA19085.hp1 NA19091.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0008 others(1): Show a0002 a0003 a0008 a0009	a0002c0002 a0003c0003 a0003c0008 others(2): Show a0002c0002 a0003c0003 a0003c0008 a0008c0010 a0009c0020	a0002c0002t0004 a0002c0002t0012 a0002c0002t0019 others(14): Show a0002c0002t0004 a0002c0002t0012 a0002c0002t0019 a0003c0003t0002 a0003c0003t0006 a0003c0003t0014 a0003c0003t0017 a0003c0003t0022 a0003c0003t0025 a0003c0003t0038 a0003c0003t0039 a0003c0003t0042 a0003c0003t0043 a0003c0003t0047 a0003c0008t0002 a0008c0010t0017 a0009c0020t0002	a0002c0002t0004g0221 a0002c0002t0004g0222 a0002c0002t0004g0223 others(75): Show a0002c0002t0004g0221 a0002c0002t0004g0222 a0002c0002t0004g0223 a0002c0002t0004g0232 a0002c0002t0012g0210 a0002c0002t0012g0211 a0002c0002t0012g0278 a0002c0002t0012g0286 a0002c0002t0012g0287 a0002c0002t0019g0225 a0003c0003t0002g0113 a0003c0003t0002g0114 a0003c0003t0002g0117 a0003c0003t0002g0120 a0003c0003t0002g0121 a0003c0003t0002g0124 a0003c0003t0002g0125 a0003c0003t0002g0126 a0003c0003t0002g0127 a0003c0003t0002g0128 a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0131 a0003c0003t0002g0132 a0003c0003t0002g0133 a0003c0003t0002g0136 a0003c0003t0002g0137 a0003c0003t0002g0138 a0003c0003t0002g0139 a0003c0003t0002g0144 a0003c0003t0002g0147 a0003c0003t0002g0150 a0003c0003t0002g0151 a0003c0003t0002g0152 a0003c0003t0002g0153 a0003c0003t0002g0154 a0003c0003t0002g0155 a0003c0003t0002g0156 a0003c0003t0002g0157 a0003c0003t0002g0158 a0003c0003t0002g0159 a0003c0003t0002g0160 a0003c0003t0002g0161 a0003c0003t0002g0162 a0003c0003t0002g0163 a0003c0003t0002g0165 a0003c0003t0002g0178 a0003c0003t0002g0179 a0003c0003t0006g0115 a0003c0003t0006g0140 a0003c0003t0006g0143 a0003c0003t0006g0169 a0003c0003t0006g0170 a0003c0003t0006g0171 a0003c0003t0006g0172 a0003c0003t0006g0173 a0003c0003t0006g0174 a0003c0003t0006g0175 a0003c0003t0014g0004 a0003c0003t0014g0149 a0003c0003t0014g0166 a0003c0003t0014g0167 a0003c0003t0017g0118 a0003c0003t0022g0168 a0003c0003t0022g0177 a0003c0003t0025g0142 a0003c0003t0025g0146 a0003c0003t0038g0123 a0003c0003t0039g0116 a0003c0003t0042g0119 a0003c0003t0043g0176 a0003c0003t0047g0141 a0003c0008t0002g0134 a0003c0008t0002g0135 a0003c0008t0002g0164 a0008c0010t0017g0122 a0008c0010t0017g0148 a0009c0020t0002g0003	78	326	0.2393	-19	c.-60 others(40): Show c.-602-18665_-602-18647delTTCCCTCCTTCCTTCCTTC	PEAK1	ENSG00000173517.11	transcript	ENST00000682557.1	protein_coding	2/9			chr15	TogoVar
PEBP4_chr8_22708251_22932914	22834387	TCAGGCTG others(12): Show TCAGGCTGGTGTCCAGCAGC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03516.hp2 HG02258.hp2 HG03516.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0033 a0002c0002 a0003c0033	a0002c0002t0001 a0003c0033t0008 a0002c0002t0001 a0003c0033t0008	a0002c0002t0001g0043 a0003c0033t0008g0026 a0002c0002t0001g0043 a0003c0033t0008g0026	2	278	0.0072	-19	c.259 others(38): Show c.259-16671_259-16653delGCTGCTGGACACCAGCCTG	PEBP4	ENSG00000134020.8	transcript	ENST00000256404.8	protein_coding	3/6			chr8	TogoVar
PEBP4_chr8_22708251_22932914	22898389	CCCAAAAA others(12): Show CCCAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	278	0.0036	-19	c.258 others(38): Show c.258+21776_258+21794delTTTTTTTTTTTTTTTTTGG	PEBP4	ENSG00000134020.8	transcript	ENST00000256404.8	protein_coding	3/6			chr8	TogoVar
PEF1_chr1_31624866_31649876	31627007	TCGGGGGA others(12): Show TCGGGGGATCTGCCCCTACC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp1 NA18978.hp2 NA18967.hp1 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0044 a0001c0001t0001g0008 a0001c0001t0001g0044	2	346	0.0058	-19	c.35 others(30): Show c.3587_*3605delGGTAGGGGCAGATCCCCCG	PEF1	ENSG00000162517.13	transcript	ENST00000373703.5	protein_coding		2858		chr1	TogoVar
PELI2_chr14_56113411_56306524	56298636	GTATTTTG others(12): Show GTATTTTGCCTACTGGCAAA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18971.hp2 NA18994.hp1 NA18971.hp2 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0034 a0001c0001t0030 a0001c0001t0034	a0001c0001t0030g0050 a0001c0001t0034g0049 a0001c0001t0030g0050 a0001c0001t0034g0049	2	368	0.0054	-19	c.14 others(30): Show c.1482_*1500delCTGGCAAATATTTTGCCTA	PELI2	ENSG00000139946.11	transcript	ENST00000267460.9	protein_coding	6/6	1482	INFO_REALIGN_3_PRIME	chr14	TogoVar
PERCC1_chr16_1426078_1439441	1434147	GGGGGGCT others(12): Show GGGGGGCTCTGGCAGCCCTA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0002 a0001c0001t0044g0002	1	378	0.0027	-19	c.75 others(28): Show c.757_*775delTCTGGCAGCCCTAGGGGGC	PERCC1	ENSG00000284395.2	transcript	ENST00000640283.2	protein_coding	2/2	757	INFO_REALIGN_3_PRIME	chr16	TogoVar
PEX10_chr1_2398974_2417564	2413637	TTTGGCCC others(12): Show TTTGGCCCCAAGGGCAGCAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0031 a0001c0001t0006g0031	1	358	0.0028	-19	c.-11 others(30): Show c.-1154_-1136delGTGCTGCCCTTGGGGCCAA	PEX10	ENSG00000157911.11	transcript	ENST00000447513.7	protein_coding		1074		chr1	TogoVar
PEX12_chr17_35569795_35583571	35583115	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG01069.hp2 HG01109.hp1 others(7): Show HG00323.hp1 HG01069.hp2 HG01109.hp1 HG01346.hp1 HG01517.hp1 HG02040.hp2 HG03491.hp2 HG03704.hp1 NA18965.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0009 others(1): Show a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0009 a0001c0001t0004g0004	10	436	0.0229	-19	c.-51 others(30): Show c.-5113_-5095delAAAAAAAAAAAAAAAAAAA	PEX12	ENSG00000108733.11	transcript	ENST00000225873.9	protein_coding		4545		chr17	TogoVar
PEX14_chr1_10469950_10635758	10577548	ATATATAT others(12): Show ATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA20752.hp2 HG02056.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0153 a0001c0001t0001g0072 a0001c0001t0001g0153	2	258	0.0078	-19	c.170 others(38): Show c.170-21688_170-21670delATATATATATATATTTTTT	PEX14	ENSG00000142655.13	transcript	ENST00000356607.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PEX14_chr1_10469950_10635758	10577560	ATATTTTT others(12): Show ATATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	258	0.0039	-19	c.170 others(38): Show c.170-21676_170-21658delATTTTTTTTTTTTTTTTTT	PEX14	ENSG00000142655.13	transcript	ENST00000356607.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PEX14_chr1_10469950_10635758	10577562	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01496.hp2 HG03471.hp2 HG01258.hp2 HG01496.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0014 a0001c0002t0001g0058 a0001c0002t0001g0198 a0001c0001t0001g0014 a0001c0002t0001g0058 a0001c0002t0001g0198	3	258	0.0116	-19	c.170 others(38): Show c.170-21646_170-21628delTTTTTTTTTTTTTTTTTTT	PEX14	ENSG00000142655.13	transcript	ENST00000356607.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PEX1_chr7_92482025_92533520	92516053	GAAAAAAG others(12): Show GAAAAAAGAAAAGAAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0003 a0001c0009t0003	a0001c0009t0003g0041 a0001c0009t0003g0041	1	310	0.0032	-19	c.123 others(38): Show c.1239+1204_1239+1222delTTCTTTTCTTTTCTTTTTT	PEX1	ENSG00000127980.16	transcript	ENST00000248633.9	protein_coding	5/23			chr7	TogoVar
PEX5L_chr3_179789958_180041937	179874726	GTTTTTTT others(12): Show GTTTTTTTTTTTGTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	220	0.0046	-19	c.630 others(34): Show c.630-322_630-304delAAAAAAACAAAAAAAAAAA	PEX5L	ENSG00000114757.19	transcript	ENST00000467460.6	protein_coding	6/14			chr3	TogoVar
PEX5_chr12_7184686_7216459	7197098	ATTATATA others(12): Show ATTATATATGTCATATAATG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03225.hp2 HG02622.hp2 HG03225.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0307 a0002c0002t0002g0308 a0002c0002t0002g0307 a0002c0002t0002g0308	2	428	0.0047	-19	c.449 others(36): Show c.449-1911_449-1893delTATATATGTCATATAATGT	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX5_chr12_7184686_7216459	7197213	AATGTAAT others(12): Show AATGTAATTATATATGTCAT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0225 a0001c0001t0008g0225	1	428	0.0023	-19	c.449 others(36): Show c.449-1790_449-1772delTATATATGTCATATGTAAT	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PF4_chr4_73975811_73987027	73982164	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	366	0.0027	-19	c.-23 others(28): Show c.-230_-212delTTTTTTTTTTTTTTTTTTT	PF4	ENSG00000163737.5	transcript	ENST00000296029.4	protein_coding		138		chr4	TogoVar
PFDN2_chr1_161095561_161123037	161103683	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01109.hp2 HG02258.hp1 others(9): Show HG01106.hp2 HG01109.hp2 HG02258.hp1 HG02615.hp1 HG02723.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp2 HG02965.hp2 HG03209.hp1 HG03486.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0042 a0001c0001t0001g0173 others(5): Show a0001c0001t0001g0014 a0001c0001t0001g0042 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178	12	370	0.0324	-19	c.76- others(34): Show c.76-1327_76-1309delTTTTTTTTTTTTTTTTTTT	PFDN2	ENSG00000143256.5	transcript	ENST00000368010.4	protein_coding	1/3			chr1	TogoVar
PFKFB3_chr10_6197932_6240532	6210337	TTTTTTTT others(12): Show TTTTTTTTTGTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA18975.hp2 HG00438.hp1 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0210 a0001c0001t0003g0212 a0001c0001t0001g0210 a0001c0001t0003g0212	2	432	0.0046	-19	c.77- others(34): Show c.77-3278_77-3260delTGTTTTTTTTTGTTTTTTT	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKL_chr21_44295053_44332373	44304682	AGCTGTCT others(12): Show AGCTGTCTGGGGGGGGCTCG	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	392	0.0026	-19	c.86- others(34): Show c.86-1990_86-1972delGGGGGGGCTCGGCTGTCTG	PFKL	ENSG00000141959.17	transcript	ENST00000349048.9	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr21	TogoVar
PFKP_chr10_3062548_3141802	3094858	CTAGGGAA others(12): Show CTAGGGAAAGCTTGATTCTG	C C	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0011 a0011	a0011c0035 a0011c0035	a0011c0035t0004 a0011c0035t0004	a0011c0035t0004g0264 a0011c0035t0004g0264	1	402	0.0025	-19	c.187 others(36): Show c.187-4412_187-4394delGAAAGCTTGATTCTGTAGG	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PGAP3_chr17_39666122_39693057	39682225	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02145.hp2 HG02055.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0050 a0001c0002t0005g0061 a0001c0002t0005g0050 a0001c0002t0005g0061	2	376	0.0053	-19	c.432 others(36): Show c.432+2353_432+2371delTTTTTTTTTTTTTTTTTTT	PGAP3	ENSG00000161395.14	transcript	ENST00000300658.9	protein_coding	3/7			chr17	TogoVar
PGBD5_chr1_230309490_230431332	230367839	CGTCCAAT others(12): Show CGTCCAATTTCATTCTCGCA	C C	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0095 a0001c0002t0095	a0001c0002t0095g0228 a0001c0002t0095g0228	1	288	0.0035	-19	c.332 others(38): Show c.332-10537_332-10519delTGCGAGAATGAAATTGGAC	PGBD5	ENSG00000177614.11	transcript	ENST00000391860.7	protein_coding	1/6			chr1	TogoVar
PGLYRP2_chr19_15463645_15484501	15467839	TTCCTTCC others(12): Show TTCCTTCCTTCCTTCCTTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02615.hp1 HG02717.hp2 others(2): Show HG02486.hp2 HG02615.hp1 HG02717.hp2 HG02886.hp1 HG03041.hp2	a0003 a0003	a0003c0003 a0003c0030 a0003c0003 a0003c0030	a0003c0003t0001 a0003c0030t0001 a0003c0003t0001 a0003c0030t0001	a0003c0003t0001g0201 a0003c0003t0001g0203 a0003c0003t0001g0334 others(2): Show a0003c0003t0001g0201 a0003c0003t0001g0203 a0003c0003t0001g0334 a0003c0003t0001g0335 a0003c0030t0001g0241	5	382	0.0131	-19	c.80 others(28): Show c.805_*823delGGAAGGAAGGAAGGAAGGA	PGLYRP2	ENSG00000161031.13	transcript	ENST00000340880.5	protein_coding		805		chr19	TogoVar
PGLYRP2_chr19_15463645_15484501	15473470	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01123.hp1 HG01243.hp1 others(1): Show HG00140.hp1 HG01123.hp1 HG01243.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 others(1): Show a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0183	4	382	0.0105	-19	c.113 others(38): Show c.1133-1389_1133-1371delTTTTTTTTTTTTTTTTTTT	PGLYRP2	ENSG00000161031.13	transcript	ENST00000340880.5	protein_coding	2/4			chr19	TogoVar
PGLYRP2_chr19_15463645_15484501	15482109	TGTACATT others(12): Show TGTACATTCTATGGGTTTGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	382	0.0026	-19	c.-27 others(30): Show c.-2757_-2739delCCAAACCCATAGAATGTAC	PGLYRP2	ENSG00000161031.13	transcript	ENST00000340880.5	protein_coding		2609		chr19	TogoVar
PGM5_chr9_68351611_68536061	68372096	ATACAAAC others(12): Show ATACAAACTTTGTATTAGAT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02809.hp2 HG02965.hp2 others(1): Show HG02109.hp2 HG02809.hp2 HG02965.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0004 a0001c0002t0001 a0001c0007t0004 a0001c0001t0004 a0001c0002t0001 a0001c0007t0004	a0001c0001t0004g0124 a0001c0002t0001g0125 a0001c0007t0004g0090 others(1): Show a0001c0001t0004g0124 a0001c0002t0001g0125 a0001c0007t0004g0090 a0001c0007t0004g0095	4	246	0.0163	-19	c.262 others(36): Show c.262-6087_262-6069delAGATTACAAACTTTGTATT	PGM5	ENSG00000154330.13	transcript	ENST00000396396.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PGR_chr11_101024624_101134813	101046292	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00621.hp2 others(25): Show HG00099.hp2 HG00140.hp2 HG00621.hp2 HG00639.hp2 HG00733.hp2 HG00741.hp1 HG01069.hp1 HG01081.hp2 HG01168.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01515.hp1 HG01516.hp2 HG01884.hp2 HG01934.hp2 HG02145.hp1 HG02165.hp1 HG02257.hp1 HG02698.hp1 HG03688.hp1 HG04204.hp2 NA19030.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0003 a0003c0020 others(1): Show a0001c0001 a0001c0003 a0003c0020 a0007c0022	a0001c0001t0002 a0001c0003t0002 a0001c0003t0028 others(7): Show a0001c0001t0002 a0001c0003t0002 a0001c0003t0028 a0001c0003t0067 a0001c0003t0068 a0001c0003t0080 a0001c0003t0081 a0001c0003t0083 a0003c0020t0064 a0007c0022t0002	a0001c0001t0002g0001 a0001c0003t0002g0173 a0001c0003t0002g0174 others(24): Show a0001c0001t0002g0001 a0001c0003t0002g0173 a0001c0003t0002g0174 a0001c0003t0002g0175 a0001c0003t0002g0176 a0001c0003t0002g0178 a0001c0003t0002g0179 a0001c0003t0002g0180 a0001c0003t0002g0181 a0001c0003t0002g0186 a0001c0003t0002g0187 a0001c0003t0002g0188 a0001c0003t0002g0189 a0001c0003t0002g0193 a0001c0003t0002g0195 a0001c0003t0002g0196 a0001c0003t0002g0197 a0001c0003t0002g0207 a0001c0003t0028g0185 a0001c0003t0028g0194 a0001c0003t0067g0182 a0001c0003t0068g0190 a0001c0003t0080g0183 a0001c0003t0081g0192 a0001c0003t0083g0211 a0003c0020t0064g0168 a0007c0022t0002g0208	28	254	0.1102	-19	c.248 others(38): Show c.2488+3618_2488+3636delAAAAAAAAAAAAAAAAAAA	PGR	ENSG00000082175.16	transcript	ENST00000325455.10	protein_coding	6/7			chr11	TogoVar
PGR_chr11_101024624_101134813	101064331	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0054 a0002c0015t0054	a0002c0015t0054g0023 a0002c0015t0054g0023	1	254	0.0039	-19	c.190 others(38): Show c.1907-1598_1907-1580delTTTTTTTTTTTTTTTTTTT	PGR	ENSG00000082175.16	transcript	ENST00000325455.10	protein_coding	3/7			chr11	TogoVar
PHACTR1_chr6_12711767_13292837	13133219	CTCCCCCT others(12): Show CTCCCCCTCCCCCTCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02647.hp2 HG03225.hp2 HG02572.hp1 HG02647.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0094 a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0094	3	108	0.0278	-19	c.416 others(38): Show c.416-26984_416-26966delTCCCCCTCCCCCTCTCCCT	PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	5/14			chr6	TogoVar
PHACTR1_chr6_12711767_13292837	13231067	GGAAGGAA others(12): Show GGAAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02886.hp2 HG03195.hp2 HG02109.hp2 HG02886.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0036 a0001c0001t0002g0045 a0001c0001t0003g0039 a0001c0001t0001g0036 a0001c0001t0002g0045 a0001c0001t0003g0039	3	108	0.0278	-19	c.139 others(36): Show c.1391+888_1391+906delAAGGAAGAAGGAAGGAAGG	PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHACTR1_chr6_12711767_13292837	13231086	AGAAGGAA others(12): Show AGAAGGAAGGAAGGGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	108	0.0093	-19	c.139 others(36): Show c.1391+894_1391+912delGAAGGAAGGAAGGGAAAAG	PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	10/14			chr6	TogoVar
PHACTR1_chr6_12711767_13292837	13288118	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01167.hp1 HG01175.hp1 others(6): Show HG00735.hp1 HG01167.hp1 HG01175.hp1 HG01993.hp1 HG02723.hp1 HG02886.hp2 HG03492.hp2 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0023 a0001c0001t0003g0039 a0001c0001t0003g0042 others(6): Show a0001c0001t0003g0023 a0001c0001t0003g0039 a0001c0001t0003g0042 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0080 a0001c0001t0003g0092 a0001c0001t0003g0099 a0001c0001t0006g0053	9	108	0.0833	-19	c.10 others(30): Show c.1041_*1059delTTTTTTTTTTTTTTTTTTT	PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding		282		chr6	TogoVar
PHC2_chr1_33318626_33436095	33388810	GTTCTGAG others(12): Show GTTCTGAGAGGTAAAGTAAC	G G	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0245 a0001c0001t0014g0245	1	370	0.0027	-19	c.-54 others(38): Show c.-54-13236_-54-13218delGTTACTTTACCTCTCAGAA	PHC2	ENSG00000134686.21	transcript	ENST00000683057.1	protein_coding	1/14			chr1	TogoVar
PHEX_chrX_22027325_22256310	22135447	CTTGCATG others(12): Show CTTGCATGAATTAGTACAGG	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02040.hp1 HG02083.hp1 others(10): Show HG01106.hp1 HG02040.hp1 HG02083.hp1 HG02451.hp1 HG02723.hp1 HG02965.hp1 HG03209.hp1 HG04199.hp1 NA18612.hp1 NA18964.hp1 NA18993.hp1 NA19001.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0008 a0001c0001t0012 others(7): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0012 a0001c0001t0037 a0001c0001t0047 a0001c0001t0133 a0001c0001t0134 a0001c0001t0135 a0001c0001t0150 a0001c0008t0073	a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0219 others(10): Show a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0219 a0001c0001t0008g0141 a0001c0001t0012g0056 a0001c0001t0012g0066 a0001c0001t0037g0156 a0001c0001t0047g0170 a0001c0001t0133g0094 a0001c0001t0134g0122 a0001c0001t0135g0118 a0001c0001t0150g0032 a0001c0008t0073g0115	13	231	0.0563	-19	c.140 others(38): Show c.1404+1824_1404+1842delTTGCATGAATTAGTACAGG	PHEX	ENSG00000102174.10	transcript	ENST00000379374.5	protein_coding	12/21			chrX	TogoVar
PHEX_chrX_22027325_22256310	22232596	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG03041.hp2 HG02897.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0119 a0001c0001t0162 a0001c0001t0119 a0001c0001t0162	a0001c0001t0119g0004 a0001c0001t0162g0024 a0001c0001t0119g0004 a0001c0001t0162g0024	2	231	0.0087	-19	c.207 others(38): Show c.2070+4997_2070+5015delTTTTTTTTTTTTTTTTTTT	PHEX	ENSG00000102174.10	transcript	ENST00000379374.5	protein_coding	20/21		INFO_REALIGN_3_PRIME	chrX	TogoVar
PHF14_chr7_10968872_11174618	11162072	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01123.hp1 HG01167.hp1 others(51): Show HG00733.hp1 HG01123.hp1 HG01167.hp1 HG01243.hp2 HG01255.hp2 HG02074.hp2 HG02109.hp1 HG02165.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03486.hp2 HG03516.hp1 HG03516.hp2 NA18906.hp2 NA18945.hp1 NA18954.hp2 NA18961.hp1 NA18970.hp2 NA18975.hp2 NA18977.hp2 NA18992.hp1 NA18995.hp1 NA19011.hp1 NA19043.hp2 NA19054.hp2 NA19063.hp2 NA19082.hp1 NA19085.hp2 NA19240.hp1 NA20300.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0012	a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 a0001c0002t0009 a0001c0003t0001 a0001c0003t0011 a0001c0005t0001 a0001c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(50): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0218 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0230 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0001g0256 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0007g0201 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0088 a0001c0002t0001g0105 a0001c0002t0009g0108 a0001c0003t0001g0231 a0001c0003t0001g0233 a0001c0003t0001g0235 a0001c0003t0001g0236 a0001c0003t0001g0237 a0001c0003t0011g0232 a0001c0005t0001g0017 a0001c0005t0001g0018 a0001c0012t0001g0026	54	298	0.1812	-19	c.277 others(38): Show c.2773-7328_2773-7310delTTTTTTTTTTTTTTTTTTT	PHF14	ENSG00000106443.17	transcript	ENST00000634607.2	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
PHF20_chr20_35767015_35955370	35855484	TATTTTTA others(12): Show TATTTTTAATTTTTTTAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG01081.hp2 others(13): Show HG00099.hp2 HG00639.hp2 HG01081.hp2 HG01109.hp2 HG01168.hp2 HG01261.hp1 HG01884.hp1 HG02258.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp2 HG03098.hp2 HG03139.hp1 HG03471.hp1 HG03834.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0019 a0001c0001t0004 a0001c0001t0010 a0001c0001t0019	a0001c0001t0004g0091 a0001c0001t0004g0098 a0001c0001t0004g0099 others(13): Show a0001c0001t0004g0091 a0001c0001t0004g0098 a0001c0001t0004g0099 a0001c0001t0004g0100 a0001c0001t0004g0102 a0001c0001t0004g0104 a0001c0001t0004g0105 a0001c0001t0004g0106 a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0004g0110 a0001c0001t0004g0111 a0001c0001t0004g0125 a0001c0001t0010g0101 a0001c0001t0010g0103 a0001c0001t0019g0109	16	206	0.0777	-19	c.341 others(36): Show c.341-2804_341-2786delTTAAAAATTTTTAATTTTT	PHF20	ENSG00000025293.17	transcript	ENST00000374012.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHF20_chr20_35767015_35955370	35937366	GCTGAGGA others(12): Show GCTGAGGAGGGAGAATCGCT	G G	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0109 a0001c0001t0019g0109	1	206	0.0049	-19	c.230 others(38): Show c.2301-1330_2301-1312delCTGAGGAGGGAGAATCGCT	PHF20	ENSG00000025293.17	transcript	ENST00000374012.8	protein_coding	15/17			chr20	TogoVar
PHF21A_chr11_45924319_46126454	45925661	TAAATAAG others(12): Show TAAATAAGTAAATAAATAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0054 a0002c0002t0008g0054	1	280	0.0036	-19	c.82 others(30): Show c.8288_*8306delTTTATTTATTTACTTATTT	PHF21A	ENSG00000135365.17	transcript	ENST00000676320.1	protein_coding		3657		chr11	TogoVar
PHF21B_chr22_44876162_45015005	44882963	CTCTGTCT others(12): Show CTCTGTCTGGTTAATTTTTG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02071.hp1 HG04199.hp2 NA18961.hp2 others(3): Show HG02071.hp1 HG04199.hp2 NA18961.hp2 NA18962.hp1 NA18989.hp2 NA19091.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0013 a0001c0005t0041 a0001c0005t0042 a0001c0005t0013 a0001c0005t0041 a0001c0005t0042	a0001c0005t0013g0093 a0001c0005t0013g0133 a0001c0005t0013g0156 others(3): Show a0001c0005t0013g0093 a0001c0005t0013g0133 a0001c0005t0013g0156 a0001c0005t0013g0157 a0001c0005t0041g0164 a0001c0005t0042g0248	6	300	0.0200	-19	c.10 others(28): Show c.104_*122delCAAAAATTAACCAGACAGA	PHF21B	ENSG00000056487.17	transcript	ENST00000313237.10	protein_coding	13/13	104		chr22	TogoVar
PHF8_chrX_53931680_54049473	54009844	GAAAAAAA others(12): Show GAAAAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA19030.hp2 HG02040.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0039 a0001c0001t0003g0169 a0001c0001t0001g0039 a0001c0001t0003g0169	2	186	0.0108	-19	c.946 others(36): Show c.946+1259_946+1277delTTTTTTTTTTTTTTTTTTT	PHF8	ENSG00000172943.21	transcript	ENST00000338154.11	protein_coding	8/21			chrX	TogoVar
PHKA1_chrX_72573814_72719306	72578490	AAAAGAAA others(12): Show AAAAGAAAAGAAAAGAAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	237	0.0042	-19	c.24 others(30): Show c.2493_*2511delCTTTTCTTTTCTTTTCTTT	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding		323		chrX	TogoVar
PHKB_chr16_47456331_47706523	47473218	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03209.hp2 HG02280.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0084 a0001c0001t0001g0085	2	98	0.0204	-19	c.76+ others(36): Show c.76+11808_76+11826delTTTTTTTTTTTTTTTTTTT	PHKB	ENSG00000102893.18	transcript	ENST00000323584.10	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
PHOSPHO1_chr17_49218366_49235787	49228278	TTCCTTCC others(12): Show TTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01243.hp1 others(5): Show HG01167.hp1 HG01169.hp2 HG01243.hp1 HG01255.hp1 HG01346.hp1 HG02258.hp2 HG02717.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0054 a0001c0001t0001g0137 a0001c0001t0002g0024 others(1): Show a0001c0001t0001g0054 a0001c0001t0001g0137 a0001c0001t0002g0024 a0001c0001t0002g0125	8	420	0.0191	-19	c.-67 others(36): Show c.-67-1539_-67-1521delGGAAGGAAGGAAGGAAGGA	PHOSPHO1	ENSG00000173868.12	transcript	ENST00000310544.9	protein_coding	1/2			chr17	TogoVar
PHPT1_chr9_136844409_136856024	136848939	AGCGAGGC others(12): Show AGCGAGGCCTTCGGGCGGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(246): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp2 HG01952.hp2 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19080.hp1 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(14): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0002g0001 a0001c0002t0001g0001	249	344	0.7238	-19	c.-49 others(28): Show c.-491_-473delGCGAGGCCTTCGGGCGGTG	PHPT1	ENSG00000054148.18	transcript	ENST00000247665.12	protein_coding		469		chr9	TogoVar

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