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
PRKAG2_chr7_151551127_151882115	151874360	T T	TATGTATA others(8): Show TATGTATATGTATATG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	252	0.0040	15	c.114 others(32): Show c.114+2132_114+2146dupCATATACATATACAT	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRKAG2_chr7_151551127_151882115	151874438	T T	TATGTATA others(8): Show TATGTATATGTATATG	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	252	0.0040	15	c.114 others(32): Show c.114+2054_114+2068dupCATATACATATACAT	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRKAR2A_chr3_48741586_48852874	48836419	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG03139.hp1 others(5): Show HG01243.hp1 HG01884.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp1 NA19003.hp1 NA19012.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0025 a0001c0001t0002 a0001c0001t0004 a0001c0001t0025	a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0060 others(5): Show a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0004g0045 a0001c0001t0025g0044	8	166	0.0482	15	c.262 others(34): Show c.262+10901_262+10915dupTTTTTTTTTTTTTTT	PRKAR2A	ENSG00000114302.17	transcript	ENST00000265563.13	protein_coding	1/10			chr3	TogoVar
PRKAR2B_chr7_107039705_107166811	107126420	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02027.hp2 HG03239.hp2 others(6): Show HG00423.hp2 HG02027.hp2 HG03239.hp2 HG03491.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG04204.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0001	a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0134 others(6): Show a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0134 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0003g0133 a0001c0003t0001g0196	9	282	0.0319	15	c.397 others(32): Show c.397-1783_397-1769dupAAAAAAAAAAAAAAA	PRKAR2B	ENSG00000005249.14	transcript	ENST00000265717.5	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
PRKCA_chr17_66297613_66815743	66347941	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00741.hp2 HG02148.hp2 others(5): Show HG00323.hp2 HG00741.hp2 HG02148.hp2 HG02630.hp2 HG03017.hp1 HG03688.hp1 NA18943.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0003 a0001c0001t0028 a0001c0002t0006 others(4): Show a0001c0001t0003 a0001c0001t0028 a0001c0002t0006 a0001c0002t0010 a0001c0002t0050 a0001c0003t0012 a0001c0004t0059	a0001c0001t0003g0073 a0001c0001t0028g0141 a0001c0002t0006g0028 others(5): Show a0001c0001t0003g0073 a0001c0001t0028g0141 a0001c0002t0006g0028 a0001c0002t0006g0083 a0001c0002t0010g0057 a0001c0002t0050g0034 a0001c0003t0012g0151 a0001c0004t0059g0174	8	178	0.0449	15	c.205 others(34): Show c.205+41819_205+41833dupTTTTTTTTTTTTTTT	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66406585	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG01496.hp2 others(8): Show HG00140.hp2 HG00323.hp2 HG01496.hp2 HG02083.hp2 HG02148.hp2 HG02615.hp1 HG03453.hp2 HG03831.hp2 HG04115.hp1 NA19010.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0094 a0001c0002t0009 a0001c0002t0031 a0001c0002t0083 a0001c0003t0005 a0001c0004t0036 a0001c0004t0059	a0001c0001t0002g0103 a0001c0001t0002g0166 a0001c0001t0003g0073 others(8): Show a0001c0001t0002g0103 a0001c0001t0002g0166 a0001c0001t0003g0073 a0001c0001t0007g0026 a0001c0001t0094g0140 a0001c0002t0009g0110 a0001c0002t0031g0015 a0001c0002t0083g0138 a0001c0003t0005g0082 a0001c0004t0036g0071 a0001c0004t0059g0174	11	178	0.0618	15	c.206 others(34): Show c.206-89606_206-89592dupTTTTTTTTTTTTTTT	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66483451	T T	TTTTTATT others(8): Show TTTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0013 a0001c0001t0043g0013	1	178	0.0056	15	c.206 others(34): Show c.206-12735_206-12721dupATTTTATTTTATTTT	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66495525	G G	GTATTTTA others(8): Show GTATTTTATTTTATTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02258.hp1 HG02965.hp2 HG01109.hp2 HG02258.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0032 a0001c0001t0068 a0001c0003t0028 a0001c0001t0032 a0001c0001t0068 a0001c0003t0028	a0001c0001t0032g0156 a0001c0001t0068g0095 a0001c0003t0028g0132 a0001c0001t0032g0156 a0001c0001t0068g0095 a0001c0003t0028g0132	3	178	0.0169	15	c.206 others(30): Show c.206-649_206-635dupATTTTATTTTATTTT	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66592343	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0089 a0001c0001t0021g0089	1	178	0.0056	15	c.289 others(34): Show c.289-49008_289-48994dupAAAAAAAAAAAAAAA	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66798510	C C	CGGTGGTG others(8): Show CGGTGGTGGTGGTGGT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02922.hp2 HG02451.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0062 a0001c0003t0080 a0001c0001t0062 a0001c0003t0080	a0001c0001t0062g0053 a0001c0003t0080g0125 a0001c0001t0062g0053 a0001c0003t0080g0125	2	178	0.0112	15	c.185 others(34): Show c.1855-5356_1855-5355insGTGGTGGTGGTGGTG	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66798587	G G	GTGGTGGT others(8): Show GTGGTGGTGATGGTAA	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0080 a0001c0001t0011g0080	1	178	0.0056	15	c.185 others(34): Show c.1855-5278_1855-5277insATGGTAATGGTGGTG	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66798956	G G	GTGGTGGT others(8): Show GTGGTGGTGATGGTAA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0092 a0001c0004t0092	a0001c0004t0092g0130 a0001c0004t0092g0130	1	178	0.0056	15	c.185 others(34): Show c.1855-4909_1855-4908insATGGTAATGGTGGTG	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66799127	G G	GTGGTGGT others(8): Show GTGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0052 a0001c0001t0006g0052	1	178	0.0056	15	c.185 others(34): Show c.1855-4732_1855-4731insATGGTGGTGGTGGTG	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66799368	T T	TGGTGACG others(8): Show TGGTGACGGTGGTGAC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0063 a0001c0003t0063	a0001c0003t0063g0162 a0001c0003t0063g0162	1	178	0.0056	15	c.185 others(34): Show c.1855-4501_1855-4500insACGGTGGTGACGGTG	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCB_chr16_23830983_24225611	23911128	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01496.hp2 HG02055.hp1 others(13): Show HG01346.hp1 HG01496.hp2 HG02055.hp1 HG02132.hp1 HG02559.hp2 HG02602.hp2 HG02698.hp1 HG02738.hp1 HG02738.hp2 HG03130.hp2 HG03540.hp2 HG03710.hp1 NA18969.hp1 NA18970.hp1 NA18998.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0008	a0001c0001t0005 a0001c0001t0007 a0001c0001t0020 others(13): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0020 a0001c0001t0058 a0001c0001t0066 a0001c0001t0081 a0001c0002t0012 a0001c0002t0034 a0001c0002t0043 a0001c0002t0050 a0001c0002t0055 a0001c0002t0084 a0001c0003t0064 a0001c0004t0002 a0001c0006t0082 a0001c0008t0037	a0001c0001t0005g0078 a0001c0001t0007g0005 a0001c0001t0020g0084 others(13): Show a0001c0001t0005g0078 a0001c0001t0007g0005 a0001c0001t0020g0084 a0001c0001t0058g0072 a0001c0001t0066g0007 a0001c0001t0081g0081 a0001c0002t0012g0145 a0001c0002t0034g0085 a0001c0002t0043g0059 a0001c0002t0050g0008 a0001c0002t0055g0114 a0001c0002t0084g0066 a0001c0003t0064g0147 a0001c0004t0002g0039 a0001c0006t0082g0093 a0001c0008t0037g0123	16	148	0.1081	15	c.205 others(34): Show c.205+73733_205+73747dupTTTTTTTTTTTTTTT	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	24049047	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0002 a0001c0002t0018g0002	1	148	0.0068	15	c.529 others(34): Show c.529+13516_529+13530dupTTTTTTTTTTTTTTT	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	24096666	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0101 a0001c0001t0049g0101	1	148	0.0068	15	c.821 others(32): Show c.821+2370_821+2371insAAAAAAAAAAATATA	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	24096666	A A	AAAAAAAA others(8): Show AAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0108 a0001c0001t0060g0108	1	148	0.0068	15	c.821 others(32): Show c.821+2370_821+2371insAAAAAAATATATATA	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	24096666	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0080 a0001c0002t0023g0080	1	148	0.0068	15	c.821 others(32): Show c.821+2369_821+2370insTATATATATATATAT	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	7/16			chr16	TogoVar
PRKCB_chr16_23830983_24225611	24128051	G G	GAAAACAA others(8): Show GAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02559.hp1 HG02809.hp2 others(2): Show HG01496.hp1 HG02559.hp1 HG02809.hp2 HG03041.hp2 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0009 a0001c0010 others(1): Show a0001c0002 a0001c0009 a0001c0010 a0001c0018	a0001c0002t0013 a0001c0002t0023 a0001c0009t0073 others(2): Show a0001c0002t0013 a0001c0002t0023 a0001c0009t0073 a0001c0010t0088 a0001c0018t0008	a0001c0002t0013g0020 a0001c0002t0023g0080 a0001c0009t0073g0031 others(2): Show a0001c0002t0013g0020 a0001c0002t0023g0080 a0001c0009t0073g0031 a0001c0010t0088g0099 a0001c0018t0008g0048	5	148	0.0338	15	c.106 others(34): Show c.1065+4082_1065+4096dupAAACAAAACAAAACA	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	24182902	T T	TGTGTGTG others(8): Show TGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0075 a0001c0001t0003g0075	1	148	0.0068	15	c.153 others(34): Show c.1533+1974_1533+1975insGTGTGTGTGTGTGTG	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	13/16			chr16	TogoVar
PRKCB_chr16_23830983_24225611	24219245	C C	CTTTTGTT others(8): Show CTTTTGTTTTGTTTTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00609.hp2 HG01070.hp1 HG01071.hp1 others(28): Show HG00609.hp2 HG01070.hp1 HG01071.hp1 HG01109.hp2 HG01123.hp2 HG01346.hp1 HG02055.hp1 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02258.hp1 HG02559.hp2 HG02615.hp2 HG02735.hp1 HG02809.hp2 HG02896.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03453.hp2 HG03710.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18943.hp2 NA19030.hp2 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0009 a0001c0011 a0001c0018	a0001c0001t0005 a0001c0001t0008 a0001c0001t0029 others(24): Show a0001c0001t0005 a0001c0001t0008 a0001c0001t0029 a0001c0001t0032 a0001c0001t0033 a0001c0001t0069 a0001c0002t0005 a0001c0002t0012 a0001c0002t0013 a0001c0002t0034 a0001c0002t0035 a0001c0002t0052 a0001c0002t0055 a0001c0002t0068 a0001c0002t0070 a0001c0003t0008 a0001c0003t0074 a0001c0004t0013 a0001c0004t0053 a0001c0004t0077 a0001c0005t0005 a0001c0005t0008 a0001c0005t0013 a0001c0006t0082 a0001c0009t0038 a0001c0011t0063 a0001c0018t0008	a0001c0001t0005g0078 a0001c0001t0005g0104 a0001c0001t0005g0138 others(28): Show a0001c0001t0005g0078 a0001c0001t0005g0104 a0001c0001t0005g0138 a0001c0001t0008g0054 a0001c0001t0029g0083 a0001c0001t0032g0130 a0001c0001t0033g0060 a0001c0001t0069g0049 a0001c0002t0005g0065 a0001c0002t0012g0098 a0001c0002t0012g0145 a0001c0002t0012g0148 a0001c0002t0013g0020 a0001c0002t0034g0085 a0001c0002t0035g0139 a0001c0002t0052g0127 a0001c0002t0055g0114 a0001c0002t0068g0050 a0001c0002t0070g0045 a0001c0003t0008g0140 a0001c0003t0074g0141 a0001c0004t0013g0044 a0001c0004t0053g0030 a0001c0004t0077g0091 a0001c0005t0005g0034 a0001c0005t0008g0027 a0001c0005t0013g0032 a0001c0006t0082g0093 a0001c0009t0038g0056 a0001c0011t0063g0067 a0001c0018t0008g0048	31	148	0.2095	15	c.44 others(26): Show c.4444_*4458dupGTTTTGTTTTGTTTT	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	17/17	4459	INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCD_chr3_53156209_53197717	53156244	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0212 a0001c0001t0012g0212	1	322	0.0031	15	c.-53 others(26): Show c.-5316_-5315insTTTTTTTTTTTTTTT	PRKCD	ENSG00000163932.16	transcript	ENST00000330452.8	protein_coding		4964		chr3	TogoVar
PRKCD_chr3_53156209_53197717	53156624	A A	AGGCGGGG others(8): Show AGGCGGGGCGAGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	322	0.0031	15	c.-49 others(26): Show c.-4936_-4935insGGCGGGGCGAGGCGG	PRKCD	ENSG00000163932.16	transcript	ENST00000330452.8	protein_coding		4584		chr3	TogoVar
PRKCD_chr3_53156209_53197717	53156624	A A	AGGCGGGG others(8): Show AGGCGGGGCGGGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG01070.hp2 HG01071.hp1 others(39): Show HG00597.hp1 HG01070.hp2 HG01071.hp1 HG01192.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01433.hp1 HG01928.hp2 HG01943.hp2 HG02004.hp1 HG02015.hp2 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp2 HG02273.hp2 HG02300.hp1 HG03225.hp1 HG03710.hp2 HG04204.hp2 NA18747.hp1 NA18747.hp2 NA18946.hp1 NA18954.hp1 NA18955.hp2 NA18964.hp1 NA18967.hp1 NA18972.hp2 NA18983.hp2 NA18986.hp1 NA18988.hp2 NA18999.hp2 NA19001.hp2 NA19067.hp2 NA19068.hp1 NA19083.hp1 NA20752.hp1 NA20805.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0004c0020	a0001c0001t0001 a0001c0001t0006 a0001c0002t0002 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0002 a0001c0002t0004 a0001c0002t0009 a0001c0005t0003 a0004c0020t0001	a0001c0001t0001g0005 a0001c0001t0001g0032 a0001c0001t0001g0034 others(31): Show a0001c0001t0001g0005 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0223 a0001c0001t0001g0228 a0001c0001t0001g0238 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0006g0222 a0001c0002t0002g0014 a0001c0002t0002g0015 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0039 a0001c0002t0002g0219 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0002g0230 a0001c0002t0002g0231 a0001c0002t0002g0233 a0001c0002t0002g0236 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0252 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0004g0220 a0001c0002t0009g0255 a0001c0005t0003g0189 a0004c0020t0001g0218	42	322	0.1304	15	c.-49 others(26): Show c.-4936_-4935insGGCGGGGCGGGGCGG	PRKCD	ENSG00000163932.16	transcript	ENST00000330452.8	protein_coding		4584		chr3	TogoVar
PRKCD_chr3_53156209_53197717	53187180	C C	CAGAAATA others(8): Show CAGAAATATATACTTG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02965.hp2 HG03195.hp1 others(1): Show HG01109.hp1 HG02965.hp2 HG03195.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0024 a0001c0003t0007g0186 a0001c0003t0007g0197 a0001c0003t0007g0024 a0001c0003t0007g0186 a0001c0003t0007g0197	4	322	0.0124	15	c.135 others(32): Show c.1353-160_1353-159insAGAAATATATACTTG	PRKCD	ENSG00000163932.16	transcript	ENST00000330452.8	protein_coding	14/18			chr3	TogoVar
PRKCE_chr2_45646675_46192990	45744473	C C	CTTTCTCT others(8): Show CTTTCTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	168	0.0060	15	c.348 others(34): Show c.348+92030_348+92031insCTTTCTTTCTTTTCT	PRKCE	ENSG00000171132.14	transcript	ENST00000306156.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
PRKCE_chr2_45646675_46192990	45958817	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0143 a0001c0002t0017g0143	1	168	0.0060	15	c.413 others(34): Show c.413-17612_413-17611insATATATATATATATA	PRKCE	ENSG00000171132.14	transcript	ENST00000306156.8	protein_coding	2/14			chr2	TogoVar
PRKCE_chr2_45646675_46192990	46135746	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp2 HG02683.hp2 others(3): Show HG01109.hp2 HG01884.hp2 HG02683.hp2 HG02818.hp2 HG02976.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010	a0001c0001t0001g0004 a0001c0001t0002g0049 a0001c0001t0002g0053 others(3): Show a0001c0001t0001g0004 a0001c0001t0002g0049 a0001c0001t0002g0053 a0001c0001t0004g0030 a0001c0001t0004g0127 a0001c0001t0010g0098	6	168	0.0357	15	c.159 others(34): Show c.1593-9334_1593-9320dupTTTTTTTTTTTTTTT	PRKCE	ENSG00000171132.14	transcript	ENST00000306156.8	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
PRKCG_chr19_53877197_53912652	53878650	A A	AAATATAT others(8): Show AAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0349 a0001c0004t0001g0349	1	362	0.0028	15	c.-38 others(26): Show c.-3845_-3844insAATATATATATATAT	PRKCG	ENSG00000126583.12	transcript	ENST00000263431.4	protein_coding		3546		chr19	TogoVar
PRKCG_chr19_53877197_53912652	53902890	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0350 a0001c0004t0001g0350	1	362	0.0028	15	c.157 others(32): Show c.1576-171_1576-157dupAAAAAAAAAAAAAAA	PRKCG	ENSG00000126583.12	transcript	ENST00000263431.4	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr19	TogoVar
PRKCG_chr19_53877197_53912652	53906025	C C	CCTCCTCC others(8): Show CCTCCTCCTCCTCCCT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03540.hp1 HG03540.hp2 HG03471.hp1 HG03540.hp1 HG03540.hp2	a0001 a0001	a0001c0004 a0001c0010 a0001c0004 a0001c0010	a0001c0004t0002 a0001c0010t0002 a0001c0004t0002 a0001c0010t0002	a0001c0004t0002g0345 a0001c0004t0002g0351 a0001c0010t0002g0212 a0001c0004t0002g0345 a0001c0004t0002g0351 a0001c0010t0002g0212	3	362	0.0083	15	c.176 others(32): Show c.1765-291_1765-290insTCCTCCTCCTCCCTC	PRKCG	ENSG00000126583.12	transcript	ENST00000263431.4	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr19	TogoVar
PRKCG_chr19_53877197_53912652	53906041	C C	CCCTCCTC others(8): Show CCCTCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA19079.hp1 NA18966.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0295 a0001c0001t0001g0296	2	362	0.0055	15	c.176 others(32): Show c.1765-245_1765-231dupCCTCCTCCTCCTCCT	PRKCG	ENSG00000126583.12	transcript	ENST00000263431.4	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr19	TogoVar
PRKCG_chr19_53877197_53912652	53906063	C C	CCTTCTTC others(8): Show CCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0239 a0001c0002t0001g0239	1	362	0.0028	15	c.176 others(32): Show c.1765-252_1765-251insTCTTCTTCTTCTTCT	PRKCG	ENSG00000126583.12	transcript	ENST00000263431.4	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr19	TogoVar
PRKCG_chr19_53877197_53912652	53906069	C C	CCTTCTTC others(8): Show CCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0350 a0001c0004t0001g0350	1	362	0.0028	15	c.176 others(32): Show c.1765-246_1765-245insTCTTCTTCTTCTTCT	PRKCG	ENSG00000126583.12	transcript	ENST00000263431.4	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr19	TogoVar
PRKCG_chr19_53877197_53912652	53906078	C C	CCTTCTTC others(8): Show CCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0058 a0001c0002t0001g0058	1	362	0.0028	15	c.176 others(32): Show c.1765-237_1765-236insTCTTCTTCTTCTTCT	PRKCG	ENSG00000126583.12	transcript	ENST00000263431.4	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr19	TogoVar
PRKCG_chr19_53877197_53912652	53906081	C C	CCTTCTTC others(8): Show CCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	362	0.0028	15	c.176 others(32): Show c.1765-234_1765-233insTCTTCTTCTTCTTCT	PRKCG	ENSG00000126583.12	transcript	ENST00000263431.4	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr19	TogoVar
PRKCG_chr19_53877197_53912652	53906084	C C	CCTCCTCC others(8): Show CCTCCTCCTCCTTCTT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0078 a0001c0002t0001g0078	1	362	0.0028	15	c.176 others(32): Show c.1765-231_1765-230insCCTCCTCCTTCTTCT	PRKCG	ENSG00000126583.12	transcript	ENST00000263431.4	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr19	TogoVar
PRKCG_chr19_53877197_53912652	53906084	C C	CCTCCTTC others(8): Show CCTCCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0336 a0001c0001t0001g0336	1	362	0.0028	15	c.176 others(32): Show c.1765-231_1765-230insCCTTCTTCTTCTTCT	PRKCG	ENSG00000126583.12	transcript	ENST00000263431.4	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr19	TogoVar
PRKCG_chr19_53877197_53912652	53906084	C C	CCTTCTTC others(8): Show CCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03540.hp1 HG03540.hp2 others(1): Show HG03017.hp2 HG03540.hp1 HG03540.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0010	a0001c0001t0001 a0001c0002t0001 a0001c0004t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0002 a0001c0010t0002	a0001c0001t0001g0286 a0001c0002t0001g0023 a0001c0004t0002g0351 others(1): Show a0001c0001t0001g0286 a0001c0002t0001g0023 a0001c0004t0002g0351 a0001c0010t0002g0212	4	362	0.0111	15	c.176 others(32): Show c.1765-211_1765-197dupCTTCTTCTTCTTCTT	PRKCG	ENSG00000126583.12	transcript	ENST00000263431.4	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr19	TogoVar
PRKCH_chr14_61316579_61555976	61433043	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02615.hp1 HG02976.hp2 others(4): Show HG02145.hp2 HG02615.hp1 HG02976.hp2 HG03471.hp1 HG03579.hp1 NA19030.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0002t0002 a0001c0003t0002 others(3): Show a0001c0001t0001 a0001c0002t0002 a0001c0003t0002 a0001c0003t0003 a0001c0003t0018 a0001c0004t0001	a0001c0001t0001g0086 a0001c0002t0002g0063 a0001c0003t0002g0025 others(4): Show a0001c0001t0001g0086 a0001c0002t0002g0063 a0001c0003t0002g0025 a0001c0003t0002g0088 a0001c0003t0003g0202 a0001c0003t0018g0170 a0001c0004t0001g0036	7	208	0.0337	15	c.428 others(34): Show c.428-10064_428-10050dupAAAAAAAAAAAAAAA	PRKCH	ENSG00000027075.17	transcript	ENST00000332981.11	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
PRKCZ_chr1_2045411_2190395	2095870	T T	TTCCTTTC others(8): Show TTCCTTTCCCCTCCCC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02451.hp1 HG03130.hp1 others(2): Show HG01099.hp1 HG02451.hp1 HG03130.hp1 HG03209.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0015 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0015 a0001c0002t0001	a0001c0001t0001g0118 a0001c0001t0005g0046 a0001c0001t0005g0047 others(2): Show a0001c0001t0001g0118 a0001c0001t0005g0046 a0001c0001t0005g0047 a0001c0001t0015g0014 a0001c0002t0001g0157	5	286	0.0175	15	c.334 others(34): Show c.334+36299_334+36313dupTTCCCCTCCCCTCCT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2095899	C C	CCTCCTCT others(8): Show CCTCCTCTCCCCTCCT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	286	0.0035	15	c.334 others(34): Show c.334+36313_334+36327dupTCTCCCCTCCTCTCC	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2106877	A A	AGTGGGCG others(8): Show AGTGGGCGAGGACCTC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0047 a0001c0001t0005g0047	1	286	0.0035	15	c.335 others(34): Show c.335-28385_335-28384insGTGGGCGAGGACCTC	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17			chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2121880	G G	GGTGGTGG others(8): Show GGTGGTGGTTAGGGTC	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02698.hp1 NA18956.hp2 others(2): Show HG02293.hp1 HG02698.hp1 NA18956.hp2 NA18961.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0060 a0001c0001t0001g0081 others(2): Show a0001c0001t0001g0050 a0001c0001t0001g0060 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085	5	286	0.0175	15	c.335 others(34): Show c.335-13381_335-13367dupGTGGTGGTTAGGGTC	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2121901	G G	GGTTAGGG others(8): Show GGTTAGGGTCACGGCT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG04115.hp1 HG04204.hp2 HG02738.hp2 HG04115.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0002 a0001c0003t0001 a0001c0001t0001 a0001c0002t0002 a0001c0003t0001	a0001c0001t0001g0150 a0001c0002t0002g0031 a0001c0003t0001g0142 a0001c0001t0001g0150 a0001c0002t0002g0031 a0001c0003t0001g0142	3	286	0.0105	15	c.335 others(34): Show c.335-13359_335-13358insTAGGGTCACGGCTGT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2121965	G G	GTCGTGGT others(8): Show GTCGTGGTGGTTAGGT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0149 a0001c0002t0004g0149	1	286	0.0035	15	c.335 others(34): Show c.335-13295_335-13294insGTGGTGGTTAGGTTC	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122214	G G	GTGGTACT others(8): Show GTGGTACTTAGGTTCA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00738.hp1 NA20129.hp1 others(1): Show HG00140.hp1 HG00738.hp1 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0003 a0001c0003t0001 a0001c0003t0003	a0001c0003t0001g0111 a0001c0003t0003g0187 a0001c0003t0003g0188 others(1): Show a0001c0003t0001g0111 a0001c0003t0003g0187 a0001c0003t0003g0188 a0001c0003t0003g0189	4	286	0.0140	15	c.335 others(34): Show c.335-13045_335-13044insTACTTAGGTTCATGG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122232	G G	GTGGTACT others(8): Show GTGGTACTTAGGTTCA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01099.hp2 HG01255.hp1 others(1): Show HG01070.hp2 HG01099.hp2 HG01255.hp1 HG02895.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0003t0003 a0001c0002t0001 a0001c0003t0001 a0001c0003t0003	a0001c0002t0001g0154 a0001c0002t0001g0213 a0001c0003t0001g0051 others(1): Show a0001c0002t0001g0154 a0001c0002t0001g0213 a0001c0003t0001g0051 a0001c0003t0003g0191	4	286	0.0140	15	c.335 others(34): Show c.335-13027_335-13026insTACTTAGGTTCATGG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122367	T T	TAGTTAGG others(8): Show TAGTTAGGGTCACGGC	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0198 a0001c0003t0003g0198	1	286	0.0035	15	c.335 others(34): Show c.335-12895_335-12894insAGTTAGGGTCACGGC	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17			chr1	TogoVar

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