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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PDZD2_chr5_31634131_32115932	31878555	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	216	0.0046	26	c.476 others(45): Show c.476+78855_476+78856insTTTTTTTTTTTTTTTTTTTTTTTTTT		PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24					INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31969509	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02717.hp2 HG04204.hp2 HG01361.hp1 HG02717.hp2 HG04204.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0001c0007 a0002c0011 a0001c0005 a0001c0007 a0002c0011	a0001c0005t0001 a0001c0007t0009 a0002c0011t0001 a0001c0005t0001 a0001c0007t0009 a0002c0011t0001	a0001c0005t0001g0123 a0001c0007t0009g0172 a0002c0011t0001g0080 a0001c0005t0001g0123 a0001c0007t0009g0172 a0002c0011t0001g0080	3	216	0.0139	26	c.477 others(45): Show c.477-13645_477-13620dupAAAAAAAAAAAAAAAAAAAAAAAAAA		PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24					INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31989427	T T	TTTTTTTT others(19): Show TTTTTTTTTTTTATTTTTATTTATTTA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0197 a0002c0003t0002g0197	1	216	0.0046	26	c.978 others(43): Show c.978+5782_978+5783insATTTTTATTTATTTATTTTTTTTTTT		PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	3/24					INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZRN4_chr12_41183320_41579745	41214430	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 NA18978.hp2 NA19000.hp1 others(2): Show HG00099.hp1 NA18978.hp2 NA19000.hp1 NA19007.hp2 NA19030.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0024 a0025	a0001c0001 a0003c0003 a0004c0005 others(2): Show a0001c0001 a0003c0003 a0004c0005 a0024c0045 a0025c0047	a0001c0001t0002 a0003c0003t0001 a0004c0005t0001 others(2): Show a0001c0001t0002 a0003c0003t0001 a0004c0005t0001 a0024c0045t0002 a0025c0047t0001	a0001c0001t0002g0156 a0003c0003t0001g0067 a0004c0005t0001g0074 others(2): Show a0001c0001t0002g0156 a0003c0003t0001g0067 a0004c0005t0001g0074 a0024c0045t0002g0073 a0025c0047t0001g0080	5	206	0.0243	26	c.843 others(45): Show c.843+20262_843+20263insAAAAAAAAAAAAAAAAAAAAAAAAAA		PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
PDZRN4_chr12_41183320_41579745	41317048	G G	GTATACAT others(19): Show GTATACATACATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01981.hp1 HG01981.hp2 others(12): Show HG00280.hp2 HG01981.hp1 HG01981.hp2 HG02451.hp2 HG02559.hp1 HG02622.hp1 HG02976.hp1 HG03486.hp1 HG03491.hp2 HG06807.hp2 NA18522.hp2 NA18955.hp1 NA18983.hp2 NA19056.hp2 NA20905.hp2	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0007 a0008 a0012 a0017	a0001c0001 a0001c0004 a0002c0002 others(9): Show a0001c0001 a0001c0004 a0002c0002 a0002c0015 a0004c0009 a0004c0031 a0007c0018 a0008c0025 a0008c0026 a0008c0060 a0012c0037 a0017c0035	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0002c0002t0002 a0002c0015t0001 a0004c0009t0001 a0004c0031t0001 a0007c0018t0001 a0008c0025t0001 a0008c0026t0001 a0008c0060t0001 a0012c0037t0001 a0017c0035t0001	a0001c0001t0001g0063 a0001c0001t0001g0152 a0001c0001t0002g0041 others(12): Show a0001c0001t0001g0063 a0001c0001t0001g0152 a0001c0001t0002g0041 a0001c0004t0001g0011 a0001c0004t0001g0060 a0002c0002t0002g0178 a0002c0015t0001g0137 a0004c0009t0001g0097 a0004c0031t0001g0001 a0007c0018t0001g0128 a0008c0025t0001g0148 a0008c0026t0001g0147 a0008c0060t0001g0201 a0012c0037t0001g0150 a0017c0035t0001g0094	15	206	0.0728	26	c.843 others(47): Show c.843+122864_843+122865insCATACATATATATATATATATATA TA		PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
PDZRN4_chr12_41183320_41579745	41317048	G G	GTATACAT others(19): Show GTATACATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01258.hp2 NA18953.hp1 HG01258.hp2 NA18953.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0003c0003t0001 a0002c0002t0002 a0003c0003t0001	a0002c0002t0002g0162 a0003c0003t0001g0120 a0002c0002t0002g0162 a0003c0003t0001g0120	2	206	0.0097	26	c.843 others(47): Show c.843+122864_843+122865insCATATATATATATATATATATATA TA		PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
PEAK1_chr15_77103158_77425104	77298197	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	326	0.0031	26	c.-60 others(47): Show c.-602-11719_-602-11694dupAAAAAAAAAAAAAAAAAAAAAAAA AA		PEAK1	ENSG00000173517.11	transcript	ENST00000682557.1	protein_coding	2/9						chr15	TogoVar
PEBP4_chr8_22708251_22932914	22822355	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGTGTGTGTGTA	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	26	c.259 others(43): Show c.259-4621_259-4620insTACACACACACACACACACACACACA		PEBP4	ENSG00000134020.8	transcript	ENST00000256404.8	protein_coding	3/6						chr8	TogoVar
PECAM1_chr17_64314415_64395860	64361129	A A	ATGTGTGT others(19): Show ATGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0006 a0004c0008t0006	a0004c0008t0006g0117 a0004c0008t0006g0117	1	288	0.0035	26	c.121 others(43): Show c.1217-740_1217-715dupCACACACACACACACACACACACACA		PECAM1	ENSG00000261371.6	transcript	ENST00000563924.6	protein_coding	6/15						chr17	TogoVar
PECR_chr2_216033388_216086809	216043084	C C	CACATATA others(19): Show CACATATACGTATGTATATATATATAT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02055.hp1 HG02280.hp1 others(4): Show HG01975.hp2 HG02055.hp1 HG02280.hp1 HG02647.hp1 HG02965.hp1 HG03516.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0212 a0001c0001t0001g0213 others(4): Show a0001c0001t0001g0155 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0349 a0001c0001t0001g0375 a0001c0001t0001g0377	7	398	0.0176	26	c.826 others(41): Show c.826+819_826+820insATATATATATATACATACGTATATGT		PECR	ENSG00000115425.14	transcript	ENST00000265322.8	protein_coding	7/7						chr2	TogoVar
PELI3_chr11_66461905_66482337	66473752	T T	TGGCGGAC others(19): Show TGGCGGACCCCCAGATGGCCTGATGGA	frameshift_variant frameshift_variant	HIGH	NA18991.hp2 NA18991.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0100 a0004c0004t0002g0100	1	396	0.0025	26	c.677 others(33): Show c.677_678insCAGATGGCCTGATGGAGGCGGACCCC	p.Asp others(5): Show p.Asp227fs	PELI3	ENSG00000174516.15	transcript	ENST00000320740.12	protein_coding	7/8	802/2704	678/1410	226/469		INFO_REALIGN_3_PRIME	chr11	TogoVar
PEPD_chr19_33381950_33526791	33431992	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0068 a0001c0003t0001g0068	1	314	0.0032	26	c.672 others(45): Show c.672-18350_672-18349insTTTTTTTTTTTTTTTTTTTTTTTTTT		PEPD	ENSG00000124299.16	transcript	ENST00000244137.12	protein_coding	9/14						chr19	TogoVar
PER1_chr17_8135472_8157404	8156823	C C	CGAGCGTG others(19): Show CGAGCGTGACCTGCACGCAGGCGCAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(301): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02109.hp1 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18945.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18972.hp1 NA18973.hp1 NA18975.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19082.hp1 NA19083.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0017 a0018 a0020 a0021 a0022 a0023	a0001c0001 a0001c0003 a0001c0004 others(41): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0010 a0001c0011 a0001c0014 a0001c0016 a0001c0020 a0001c0021 a0001c0022 a0001c0026 a0001c0031 a0001c0035 a0001c0039 a0001c0040 a0001c0041 a0001c0049 a0001c0050 a0001c0051 a0002c0002 a0002c0030 a0003c0013 a0003c0046 a0004c0012 a0005c0015 a0006c0043 a0006c0044 a0009c0038 a0010c0036 a0011c0027 a0012c0028 a0013c0048 a0014c0045 a0015c0019 a0017c0017 a0018c0029 a0020c0047 a0021c0042 a0022c0033 a0023c0018	a0001c0001t0001 a0001c0003t0001 a0001c0003t0005 others(44): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0005 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0006t0006 a0001c0007t0001 a0001c0007t0004 a0001c0008t0001 a0001c0010t0002 a0001c0011t0001 a0001c0014t0001 a0001c0016t0001 a0001c0020t0001 a0001c0021t0002 a0001c0022t0002 a0001c0026t0001 a0001c0031t0001 a0001c0035t0001 a0001c0039t0001 a0001c0040t0001 a0001c0041t0001 a0001c0049t0001 a0001c0050t0001 a0001c0051t0001 a0002c0002t0001 a0002c0030t0001 a0003c0013t0001 a0003c0046t0001 a0004c0012t0001 a0005c0015t0001 a0006c0043t0001 a0006c0044t0001 a0009c0038t0001 a0010c0036t0001 a0011c0027t0001 a0012c0028t0001 a0013c0048t0001 a0014c0045t0001 a0015c0019t0001 a0017c0017t0001 a0018c0029t0001 a0020c0047t0001 a0021c0042t0001 a0022c0033t0001 a0023c0018t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0010 others(114): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0068 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0003t0001g0002 a0001c0003t0001g0024 a0001c0003t0001g0025 a0001c0003t0001g0072 a0001c0003t0001g0073 a0001c0003t0001g0074 a0001c0003t0001g0076 a0001c0003t0001g0079 a0001c0003t0001g0084 a0001c0003t0001g0145 a0001c0003t0005g0080 a0001c0004t0001g0005 a0001c0004t0001g0006 a0001c0004t0001g0016 a0001c0004t0001g0023 a0001c0004t0001g0028 a0001c0004t0001g0030 a0001c0004t0001g0033 a0001c0004t0001g0042 a0001c0004t0001g0069 a0001c0004t0001g0087 a0001c0004t0001g0100 a0001c0004t0001g0101 a0001c0004t0001g0135 a0001c0004t0001g0136 a0001c0004t0001g0137 a0001c0005t0001g0007 a0001c0005t0001g0018 a0001c0005t0001g0037 a0001c0005t0001g0038 a0001c0005t0001g0066 a0001c0005t0001g0102 a0001c0005t0001g0141 a0001c0006t0001g0009 a0001c0006t0001g0144 a0001c0006t0006g0041 a0001c0007t0001g0031 a0001c0007t0001g0098 a0001c0007t0004g0099 a0001c0008t0001g0017 a0001c0010t0002g0019 a0001c0011t0001g0022 a0001c0014t0001g0026 a0001c0016t0001g0139 a0001c0020t0001g0143 a0001c0021t0002g0039 a0001c0022t0002g0040 a0001c0026t0001g0116 a0001c0031t0001g0093 a0001c0035t0001g0122 a0001c0039t0001g0138 a0001c0040t0001g0142 a0001c0041t0001g0097 a0001c0049t0001g0088 a0001c0050t0001g0089 a0001c0051t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0112 a0002c0002t0001g0140 a0002c0030t0001g0129 a0003c0013t0001g0106 a0003c0013t0001g0107 a0003c0046t0001g0071 a0004c0012t0001g0036 a0005c0015t0001g0027 a0006c0043t0001g0077 a0006c0044t0001g0078 a0009c0038t0001g0070 a0010c0036t0001g0110 a0011c0027t0001g0120 a0012c0028t0001g0092 a0013c0048t0001g0083 a0014c0045t0001g0081 a0015c0019t0001g0126 a0017c0017t0001g0048 a0018c0029t0001g0094 a0020c0047t0001g0082 a0021c0042t0001g0075 a0022c0033t0001g0130 a0023c0018t0001g0103	304	426	0.7136	26	c.-46 others(37): Show c.-4627_-4626insTCTGCGCCTGCGTGCAGGTCACGCTC		PER1	ENSG00000179094.16	transcript	ENST00000317276.9	protein_coding					4420		chr17	TogoVar
PER3_chr1_7779291_7850177	7806812	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18948.hp1 NA18946.hp2 NA18948.hp1	a0001 a0015 a0001 a0015	a0001c0003 a0015c0018 a0001c0003 a0015c0018	a0001c0003t0001 a0015c0018t0001 a0001c0003t0001 a0015c0018t0001	a0001c0003t0001g0141 a0015c0018t0001g0150 a0001c0003t0001g0141 a0015c0018t0001g0150	2	410	0.0049	26	c.113 others(45): Show c.1137-2080_1137-2079insAAAAAAAAAAAAAATATATATATATA		PER3	ENSG00000049246.15	transcript	ENST00000377532.8	protein_coding	10/21					INFO_REALIGN_3_PRIME	chr1	TogoVar
PER3_chr1_7779291_7850177	7806812	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0118 a0001c0003t0001g0118	1	410	0.0024	26	c.113 others(45): Show c.1137-2080_1137-2079insAAAAAAAAAAAATATATATATATATA		PER3	ENSG00000049246.15	transcript	ENST00000377532.8	protein_coding	10/21					INFO_REALIGN_3_PRIME	chr1	TogoVar
PER3_chr1_7779291_7850177	7806812	A A	AAAAAAAA others(19): Show AAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0058 a0001c0004t0011g0058	1	410	0.0024	26	c.113 others(45): Show c.1137-2080_1137-2079insAAAAAAAATATATATATATATATATA		PER3	ENSG00000049246.15	transcript	ENST00000377532.8	protein_coding	10/21					INFO_REALIGN_3_PRIME	chr1	TogoVar
PER3_chr1_7779291_7850177	7815991	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0142 a0001c0003t0001g0142	1	410	0.0024	26	c.152 others(45): Show c.1523-3293_1523-3268dupAAAAAAAAAAAAAAAAAAAAAAAAAA		PER3	ENSG00000049246.15	transcript	ENST00000377532.8	protein_coding	13/21					INFO_REALIGN_3_PRIME	chr1	TogoVar
PERCC1_chr16_1426078_1439441	1432006	T T	TTGATCAA others(19): Show TTGATCAAGAGCCATGGAGCCCCACTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp2 HG01099.hp1 others(1): Show HG00140.hp2 HG00642.hp2 HG01099.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0012 a0002c0002t0001g0012	4	378	0.0106	26	c.-47 others(41): Show c.-47-519_-47-518insACTGTGATCAAGAGCCATGGAGCCCC		PERCC1	ENSG00000284395.2	transcript	ENST00000640283.2	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr16	TogoVar
PERM1_chr1_970198_987093	984620	T T	TTCTTTCT others(19): Show TTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01257.hp2 HG01258.hp2 others(1): Show HG01192.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0002 a0001c0001t0003 a0002c0002t0002	a0001c0001t0003g0029 a0002c0002t0002g0010 a0001c0001t0003g0029 a0002c0002t0002g0010	4	408	0.0098	26	c.-27 others(37): Show c.-2701_-2700insGAAAGAAAGAAAGAAAGAAAGAAAGA		PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding					2528		chr1	TogoVar
PERP_chr6_138083505_138112419	138083614	A A	AAAGAGCT others(19): Show AAAGAGCTGGATAATATATCCAGCAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01167.hp2 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0030 a0001c0001t0003g0030	2	430	0.0047	26	c.84 others(37): Show c.8427_*8428insCCTGCTGGATATATTATCCAGCTCTT		PERP	ENSG00000112378.12	transcript	ENST00000421351.4	protein_coding					4890		chr6	TogoVar
PERP_chr6_138083505_138112419	138086314	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00621.hp1 HG01361.hp1 others(19): Show HG00140.hp2 HG00621.hp1 HG01361.hp1 HG01928.hp2 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02293.hp1 HG03654.hp2 NA18941.hp1 NA18946.hp2 NA18948.hp1 NA18953.hp1 NA18953.hp2 NA18973.hp2 NA18981.hp2 NA18998.hp1 NA19004.hp1 NA19007.hp1 NA19056.hp2 NA19062.hp2 NA19067.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0018 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0018 a0001c0001t0033 a0001c0001t0035 a0001c0001t0049 a0002c0002t0005 a0002c0002t0011 a0002c0002t0024 a0002c0002t0069 a0003c0003t0015	a0001c0001t0001g0001 a0001c0001t0004g0004 a0001c0001t0004g0010 others(10): Show a0001c0001t0001g0001 a0001c0001t0004g0004 a0001c0001t0004g0010 a0001c0001t0018g0158 a0001c0001t0033g0142 a0001c0001t0035g0135 a0001c0001t0049g0061 a0002c0002t0005g0006 a0002c0002t0011g0058 a0002c0002t0024g0225 a0002c0002t0069g0211 a0003c0003t0015g0014 a0003c0003t0015g0071	22	430	0.0512	26	c.57 others(37): Show c.5727_*5728insATATATATATATATATATATATATAT		PERP	ENSG00000112378.12	transcript	ENST00000421351.4	protein_coding					2190		chr6	TogoVar
PEX10_chr1_2398974_2417564	2401241	T T	TTCCCCTC others(19): Show TTCCCCTCCCTCCTTCCTCCCTCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(25): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00423.hp2 HG01069.hp1 HG01175.hp1 HG01175.hp2 HG01261.hp2 HG01516.hp1 HG02056.hp2 HG02071.hp1 HG02083.hp2 HG02155.hp1 HG02602.hp1 HG02683.hp1 HG02970.hp2 HG03209.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp1 NA18951.hp1 NA18955.hp1 NA19007.hp2 NA19066.hp2 NA19079.hp2 NA19082.hp1 NA19082.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0009 a0001c0001 a0001c0002 a0003c0009	a0001c0001t0001 a0001c0002t0001 a0001c0002t0006 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0006 a0001c0002t0008 a0001c0002t0030 a0003c0009t0001	a0001c0001t0001g0071 a0001c0001t0001g0099 a0001c0002t0001g0005 others(9): Show a0001c0001t0001g0071 a0001c0001t0001g0099 a0001c0002t0001g0005 a0001c0002t0001g0008 a0001c0002t0001g0041 a0001c0002t0001g0072 a0001c0002t0001g0101 a0001c0002t0006g0102 a0001c0002t0006g0103 a0001c0002t0008g0017 a0001c0002t0030g0117 a0003c0009t0001g0100	28	358	0.0782	26	c.45 others(37): Show c.4524_*4525insGGAGGAGGGAGGAAGGAGGGAGGGGA		PEX10	ENSG00000157911.11	transcript	ENST00000447513.7	protein_coding					2732		chr1	TogoVar
PEX10_chr1_2398974_2417564	2401381	C C	CTTCCTCC others(19): Show CTTCCTCCCTCCCTCCTCCTCCCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0066 a0001c0001t0016g0066	1	358	0.0028	26	c.43 others(37): Show c.4384_*4385insAGGAGGGAGGAGGAGGGAGGGAGGAA		PEX10	ENSG00000157911.11	transcript	ENST00000447513.7	protein_coding					2592		chr1	TogoVar
PEX10_chr1_2398974_2417564	2401391	C C	CTTCCTCC others(19): Show CTTCCTCCCTCCCTCCTCCTCCCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG01934.hp1 HG02559.hp2 others(6): Show HG00438.hp1 HG01934.hp1 HG02559.hp2 HG02602.hp2 HG04204.hp2 NA18947.hp2 NA18981.hp2 NA18990.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0021 a0001c0001t0005 a0001c0001t0021	a0001c0001t0005g0007 a0001c0001t0005g0040 a0001c0001t0005g0081 others(2): Show a0001c0001t0005g0007 a0001c0001t0005g0040 a0001c0001t0005g0081 a0001c0001t0005g0098 a0001c0001t0021g0082	9	358	0.0251	26	c.43 others(37): Show c.4374_*4375insAGGAGGGAGGAGGAGGGAGGGAGGAA		PEX10	ENSG00000157911.11	transcript	ENST00000447513.7	protein_coding					2582		chr1	TogoVar
PEX11G_chr19_7471875_7494035	7474754	A A	AGTGTGTG others(19): Show AGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02280.hp2 HG02572.hp1 others(4): Show HG01109.hp2 HG02280.hp2 HG02572.hp1 HG02809.hp2 NA19007.hp1 NA19030.hp1 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0005 a0001c0003 a0001c0004 a0001c0005	a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001	a0001c0003t0001g0005 a0001c0004t0001g0003 a0001c0005t0001g0006 a0001c0003t0001g0005 a0001c0004t0001g0003 a0001c0005t0001g0006	7	416	0.0168	26	c.24 others(37): Show c.2447_*2448insACACACACACACACACACACACACAC		PEX11G	ENSG00000104883.8	transcript	ENST00000221480.6	protein_coding					2120		chr19	TogoVar
PEX5L_chr3_179789958_180041937	180024347	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02970.hp1 HG02976.hp2 others(1): Show HG02015.hp2 HG02970.hp1 HG02976.hp2 NA18991.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0044 a0001c0001t0078 others(1): Show a0001c0001t0002 a0001c0001t0044 a0001c0001t0078 a0002c0002t0083	a0001c0001t0002g0199 a0001c0001t0044g0092 a0001c0001t0078g0068 others(1): Show a0001c0001t0002g0199 a0001c0001t0044g0092 a0001c0001t0078g0068 a0002c0002t0083g0206	4	220	0.0182	26	c.21+ others(43): Show c.21+12206_21+12231dupATATATATATATATATATATATATAT		PEX5L	ENSG00000114757.19	transcript	ENST00000467460.6	protein_coding	1/14						chr3	TogoVar
PEX5L_chr3_179789958_180041937	180024373	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02572.hp1 HG03490.hp2 HG02055.hp2 HG02572.hp1 HG03490.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0047 a0002c0002t0016 a0001c0001t0003 a0001c0001t0047 a0002c0002t0016	a0001c0001t0003g0101 a0001c0001t0047g0084 a0002c0002t0016g0187 a0001c0001t0003g0101 a0001c0001t0047g0084 a0002c0002t0016g0187	3	220	0.0136	26	c.21+ others(43): Show c.21+12205_21+12206insGTATATATATATATATATATATATAT		PEX5L	ENSG00000114757.19	transcript	ENST00000467460.6	protein_coding	1/14						chr3	TogoVar
PEX5_chr12_7184686_7216459	7197216	G G	GTAATAAT others(19): Show GTAATAATTATGTCATATATAATGTAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0293 a0001c0003t0004g0293	1	428	0.0023	26	c.449 others(43): Show c.449-1791_449-1790insAATTATGTCATATATAATGTAATAAT		PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX5_chr12_7184686_7216459	7197541	A A	ATTATATG others(19): Show ATTATATGTTATATATAATGTAATAAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03195.hp2 HG01884.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0212 a0001c0001t0004g0213 a0001c0001t0004g0212 a0001c0001t0004g0213	2	428	0.0047	26	c.449 others(43): Show c.449-1469_449-1468insTATATGTTATATATAATGTAATAATT		PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
PFKP_chr10_3062548_3141802	3079657	C C	CGGGGGGG others(19): Show CGGGGGGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0153 a0001c0004t0006g0153	1	402	0.0025	26	c.113 others(43): Show c.113-2727_113-2726insGGGGGGGGGGGGGGGGGGGGGGGGGG		PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	1/21					INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3084774	A A	AGCCCCCT others(19): Show AGCCCCCTCCCCAGGAGAGTCCTCCAC	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0278 a0001c0002t0001g0278	1	402	0.0025	26	c.186 others(43): Show c.186+2313_186+2314insGCCCCCTCCCCAGGAGAGTCCTCCAC		PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21						chr10	TogoVar
PFKP_chr10_3062548_3141802	3084854	C C	CCCAGCAC others(19): Show CCCAGCACGGTCCCCCCACTCCACTCT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0384 a0001c0001t0003g0384	1	402	0.0025	26	c.186 others(43): Show c.186+2408_186+2409insCACTCCACTCTCCAGCACGGTCCCCC		PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21					INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3084864	T T	TCCCCCAC others(19): Show TCCCCCACTCCACTCTCCAGCACGGTC	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18981.hp1 NA18939.hp1 NA18981.hp1	a0001 a0001	a0001c0006 a0001c0007 a0001c0006 a0001c0007	a0001c0006t0001 a0001c0007t0005 a0001c0006t0001 a0001c0007t0005	a0001c0006t0001g0291 a0001c0007t0005g0350 a0001c0006t0001g0291 a0001c0007t0005g0350	2	402	0.0050	26	c.186 others(43): Show c.186+2408_186+2433dupCACTCCACTCTCCAGCACGGTCCCCC		PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21					INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3084889	T T	TCCCCCAC others(19): Show TCCCCCACTCCACTCTCCAGCACGGTC	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0341 a0001c0001t0003g0341	1	402	0.0025	26	c.186 others(43): Show c.186+2433_186+2458dupCACTCCACTCTCCAGCACGGTCCCCC		PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21					INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3084914	T T	TCCCCCAC others(19): Show TCCCCCACTCCACTCTCCAGCACGGTC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0001 a0001c0029t0001	a0001c0029t0001g0275 a0001c0029t0001g0275	1	402	0.0025	26	c.186 others(43): Show c.186+2459_186+2460insCTCCACTCTCCAGCACGGTCCCCCCA		PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21					INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3085676	C C	CACTCTCC others(19): Show CACTCTCCAGCACAGTGCCCCCCTCTA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0046 a0001c0046	a0001c0046t0003 a0001c0046t0003	a0001c0046t0003g0364 a0001c0046t0003g0364	1	402	0.0025	26	c.186 others(43): Show c.186+3215_186+3216insACTCTCCAGCACAGTGCCCCCCTCTA		PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21						chr10	TogoVar
PGAM1_chr10_97421191_97438444	97425901	C C	CCGCCGCC others(19): Show CCGCCGCCCGCCGCCCGCCGCCCGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02976.hp2 HG02886.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0072 a0001c0001t0003g0035 a0001c0001t0001g0072 a0001c0001t0003g0035	2	438	0.0046	26	c.-40 others(35): Show c.-407_-406insCGCCGCCCGCCGCCCGCCGCCCGCCG		PGAM1	ENSG00000171314.9	transcript	ENST00000334828.6	protein_coding					289		chr10	TogoVar
PGAP2_chr11_3803560_3831371	3812651	T T	TGGGGTCC others(19): Show TGGGGTCCCTCAGAGTTCTGAAGGCCC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0253 a0003c0003t0003g0253	1	418	0.0024	26	c.165 others(43): Show c.165+1228_165+1253dupGGGGTCCCTCAGAGTTCTGAAGGCCC		PGAP2	ENSG00000148985.20	transcript	ENST00000278243.9	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr11	TogoVar
PGAP3_chr17_39666122_39693057	39691556	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	376	0.0027	26	c.-35 others(37): Show c.-3543_-3542insATATATATATATATTTTTTTTTTTTT		PGAP3	ENSG00000161395.14	transcript	ENST00000300658.9	protein_coding					3500		chr17	TogoVar
PGAP3_chr17_39666122_39693057	39691934	C C	CATATACA others(19): Show CATATACATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 NA18906.hp2 HG03225.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0164 a0001c0001t0001g0165	2	376	0.0053	26	c.-39 others(37): Show c.-3921_-3920insATATATATATATATATATATGTATAT		PGAP3	ENSG00000161395.14	transcript	ENST00000300658.9	protein_coding					3878		chr17	TogoVar
PGGT1B_chr5_115199012_115267877	115207180	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01168.hp1 HG01433.hp1 HG01975.hp1 others(1): Show HG01168.hp1 HG01433.hp1 HG01975.hp1 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0072 a0001c0001t0103 others(1): Show a0001c0001t0068 a0001c0001t0072 a0001c0001t0103 a0001c0001t0108	a0001c0001t0068g0033 a0001c0001t0072g0111 a0001c0001t0103g0191 others(1): Show a0001c0001t0068g0033 a0001c0001t0072g0111 a0001c0001t0103g0191 a0001c0001t0108g0084	4	372	0.0108	26	c.51 others(37): Show c.5196_*5221dupATATATATATATATATATATATATAT		PGGT1B	ENSG00000164219.10	transcript	ENST00000419445.6	protein_coding	9/9				5221		chr5	TogoVar
PGGT1B_chr5_115199012_115267877	115238291	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0289 a0001c0001t0027g0289	1	372	0.0027	26	c.328 others(41): Show c.328-308_328-283dupAAAAAAAAAAAAAAAAAAAAAAAAAA		PGGT1B	ENSG00000164219.10	transcript	ENST00000419445.6	protein_coding	3/8						chr5	TogoVar
PGLYRP4_chr1_153325120_153353841	153350632	G G	GGAAAGAA others(19): Show GGAAAGAAAAAGAAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 NA19006.hp2 HG01884.hp1 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0002g0007 a0001c0001t0001g0001 a0001c0001t0002g0007	2	392	0.0051	26	c.-21 others(37): Show c.-2152_-2151insTTTCTTTCTTTCTTTCTTTTTCTTTC		PGLYRP4	ENSG00000163218.15	transcript	ENST00000359650.10	protein_coding					1792		chr1	TogoVar
PGM2L1_chr11_74325316_74403433	74383824	A A	AATAAATA others(19): Show AATAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02886.hp1 HG03486.hp2 HG02572.hp1 HG02886.hp1 HG03486.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0004 a0003c0006 a0007c0010 a0001c0004 a0003c0006 a0007c0010	a0001c0004t0025 a0003c0006t0015 a0007c0010t0025 a0001c0004t0025 a0003c0006t0015 a0007c0010t0025	a0001c0004t0025g0281 a0003c0006t0015g0022 a0007c0010t0025g0282 a0001c0004t0025g0281 a0003c0006t0015g0022 a0007c0010t0025g0282	3	380	0.0079	26	c.112 others(43): Show c.112-9243_112-9242insATATATATATATATATATATATTTAT		PGM2L1	ENSG00000165434.8	transcript	ENST00000298198.5	protein_coding	1/13						chr11	TogoVar
PGM2L1_chr11_74325316_74403433	74383824	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02258.hp1 HG03834.hp1 others(2): Show HG01081.hp1 HG02258.hp1 HG03834.hp1 NA18945.hp2 NA19064.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0001c0004 a0002c0002	a0001c0004t0013 a0002c0002t0004 a0002c0002t0005 others(1): Show a0001c0004t0013 a0002c0002t0004 a0002c0002t0005 a0002c0002t0056	a0001c0004t0013g0108 a0002c0002t0004g0212 a0002c0002t0005g0172 others(2): Show a0001c0004t0013g0108 a0002c0002t0004g0212 a0002c0002t0005g0172 a0002c0002t0005g0173 a0002c0002t0056g0148	5	380	0.0132	26	c.112 others(43): Show c.112-9243_112-9242insATATATATATATATATATATATATAT		PGM2L1	ENSG00000165434.8	transcript	ENST00000298198.5	protein_coding	1/13						chr11	TogoVar
PGM2_chr4_37821686_37867937	37841072	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG04184.hp1 HG02300.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0320 a0001c0001t0001g0321	2	446	0.0045	26	c.719 others(41): Show c.719+817_719+842dupATATATATATATATATATATATATAT		PGM2	ENSG00000169299.14	transcript	ENST00000381967.9	protein_coding	6/13					INFO_REALIGN_3_PRIME	chr4	TogoVar
PGM2_chr4_37821686_37867937	37841100	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0322 a0001c0001t0001g0322	1	446	0.0022	26	c.719 others(41): Show c.719+842_719+843insATATATATATATATATATATATATGT		PGM2	ENSG00000169299.14	transcript	ENST00000381967.9	protein_coding	6/13					INFO_REALIGN_3_PRIME	chr4	TogoVar
PGM5_chr9_68351611_68536061	68376834	T T	TTTCTCTT others(19): Show TTTCTCTTTCTCTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0011 a0001c0003t0014g0011	1	246	0.0041	26	c.262 others(43): Show c.262-1365_262-1364insTTCTCTTTCTCTTCTTTCTTTCTTTC		PGM5	ENSG00000154330.13	transcript	ENST00000396396.6	protein_coding	1/10						chr9	TogoVar
PGPEP1_chr19_18335598_18374950	18338732	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02809.hp1 HG02809.hp2 others(4): Show HG01884.hp2 HG02809.hp1 HG02809.hp2 NA18906.hp1 NA18940.hp2 NA19068.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0060 a0001c0001t0213 others(4): Show a0001c0001t0034 a0001c0001t0060 a0001c0001t0213 a0001c0001t0242 a0001c0001t0249 a0001c0001t0250 a0001c0001t0272	a0001c0001t0034g0026 a0001c0001t0060g0053 a0001c0001t0213g0299 others(4): Show a0001c0001t0034g0026 a0001c0001t0060g0053 a0001c0001t0213g0299 a0001c0001t0242g0301 a0001c0001t0249g0003 a0001c0001t0250g0304 a0001c0001t0272g0117	7	412	0.0170	26	c.-19 others(37): Show c.-1950_-1949insAAAAAAAAAAAAAAAAAAAAAAAAAA		PGPEP1	ENSG00000130517.14	transcript	ENST00000269919.11	protein_coding					1865		chr19	TogoVar
PGPEP1_chr19_18335598_18374950	18352266	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0110 a0001c0001t0110	a0001c0001t0110g0216 a0001c0001t0110g0216	1	412	0.0024	26	c.88- others(41): Show c.88-3608_88-3607insAAAAAAAAAAAAAAAAAAAAAAAAAA		PGPEP1	ENSG00000130517.14	transcript	ENST00000269919.11	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr19	TogoVar

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