Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
PRKAG2_chr7_151551127_151882115	151603120	CACACGCT others(23): Show CACACGCTCCATACTCACCGCACACGGAGGG	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02280.hp1 HG02615.hp1 others(6): Show HG02109.hp1 HG02280.hp1 HG02615.hp1 HG02630.hp1 HG02896.hp1 HG02965.hp1 HG03098.hp2 HG03579.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0016 a0001c0001t0034	a0001c0001t0002g0016 a0001c0001t0002g0104 a0001c0001t0002g0160 others(6): Show a0001c0001t0002g0016 a0001c0001t0002g0104 a0001c0001t0002g0160 a0001c0001t0004g0211 a0001c0001t0005g0215 a0001c0001t0009g0006 a0001c0001t0010g0143 a0001c0001t0016g0250 a0001c0001t0034g0252	9	250	0.0360	-30	c.755 others(47): Show c.755-7696_755-7667delCCCTCCGTGTGCGGTGAGTATGGAGCGT GT		PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	5/15						chr7	TogoVar
PRKAG2_chr7_151551127_151882115	151603132	ACTCACCG others(23): Show ACTCACCGCACACGGAGGGACACGCTCCGTC	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03130.hp2 HG02109.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0025 a0001c0006t0003 a0001c0001t0025 a0001c0006t0003	a0001c0001t0025g0109 a0001c0006t0003g0025 a0001c0001t0025g0109 a0001c0006t0003g0025	2	154	0.0130	-30	c.755 others(47): Show c.755-7708_755-7679delGACGGAGCGTGTCCCTCCGTGTGCGGTG AG		PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	5/15						chr7	TogoVar
PRKAG2_chr7_151551127_151882115	151773036	AGAGAGAG others(23): Show AGAGAGAGAGAGAGAGAGGGAGGGAGGGAGG	A A	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18998.hp1 NA18952.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0043 a0001c0001t0002g0194 a0001c0001t0001g0043 a0001c0001t0002g0194	2	236	0.0085	-30	c.466 others(47): Show c.466+8086_466+8115delCCTCCCTCCCTCCCTCTCTCTCTCTCTC TC		PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	3/15						chr7	TogoVar
PRKAG2_chr7_151551127_151882115	151773040	AGAGAGAG others(23): Show AGAGAGAGAGAGAGGGAGGGAGGGAGGGAGG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0100 a0001c0001t0006g0100	1	239	0.0042	-30	c.466 others(47): Show c.466+8082_466+8111delCCTCCCTCCCTCCCTCCCTCTCTCTCTC TC		PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	3/15						chr7	TogoVar
PRKAG2_chr7_151551127_151882115	151773071	GAGGGAGG others(23): Show GAGGGAGGGAGGGAGGGAGGGAGGGAAGGGA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	250	0.0040	-30	c.466 others(47): Show c.466+8051_466+8080delTCCCTTCCCTCCCTCCCTCCCTCCCTCC CT		PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	3/15						chr7	TogoVar
PRKAG2_chr7_151551127_151882115	151855000	CTCCACAC others(23): Show CTCCACACACACCACCCTCCACACACACCAT	C C	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02109.hp1 HG03669.hp1 others(4): Show HG01952.hp1 HG02109.hp1 HG03669.hp1 HG03688.hp2 HG03927.hp2 NA18964.hp1 NA19057.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0004 a0001c0001 a0001c0007 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0007t0001 a0002c0004t0023	a0001c0001t0001g0082 a0001c0001t0002g0015 a0001c0001t0002g0016 others(4): Show a0001c0001t0001g0082 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0003g0128 a0001c0001t0004g0213 a0001c0007t0001g0083 a0002c0004t0023g0087	7	250	0.0280	-30	c.114 others(49): Show c.114+21477_114+21506delATGGTGTGTGTGGAGGGTGGTGTGTG TGGA		PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15						chr7	TogoVar
PRKCA_chr17_66297613_66815743	66302332	GGCCGCCG others(23): Show GGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00639.hp2 HG00673.hp2 others(41): Show HG00323.hp1 HG00639.hp2 HG00673.hp2 HG01074.hp1 HG01081.hp2 HG01109.hp2 HG01175.hp1 HG01496.hp1 HG01891.hp1 HG01891.hp2 HG02004.hp1 HG02132.hp1 HG02148.hp1 HG02257.hp1 HG02602.hp1 HG02630.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03195.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03579.hp2 HG03688.hp1 HG04115.hp2 NA18522.hp1 NA18942.hp2 NA18943.hp2 NA18945.hp2 NA18975.hp2 NA18986.hp1 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19065.hp1 NA19091.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0009	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(38): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0017 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0038 a0001c0001t0045 a0001c0001t0072 a0001c0001t0073 a0001c0001t0078 a0001c0001t0079 a0001c0001t0081 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0093 a0001c0001t0094 a0001c0001t0096 a0001c0002t0002 a0001c0002t0008 a0001c0002t0014 a0001c0002t0021 a0001c0002t0026 a0001c0002t0037 a0001c0002t0083 a0001c0002t0090 a0001c0003t0028 a0001c0003t0080 a0001c0003t0082 a0001c0003t0089 a0001c0004t0046 a0001c0004t0091 a0001c0004t0092 a0001c0006t0024 a0001c0009t0034	a0001c0001t0001g0008 a0001c0001t0005g0007 a0001c0001t0007g0006 others(41): Show a0001c0001t0001g0008 a0001c0001t0005g0007 a0001c0001t0007g0006 a0001c0001t0008g0005 a0001c0001t0017g0114 a0001c0001t0024g0120 a0001c0001t0025g0118 a0001c0001t0025g0141 a0001c0001t0027g0124 a0001c0001t0027g0133 a0001c0001t0028g0140 a0001c0001t0038g0117 a0001c0001t0045g0004 a0001c0001t0072g0113 a0001c0001t0073g0010 a0001c0001t0078g0144 a0001c0001t0079g0121 a0001c0001t0081g0127 a0001c0001t0084g0134 a0001c0001t0085g0128 a0001c0001t0086g0122 a0001c0001t0087g0112 a0001c0001t0088g0142 a0001c0001t0093g0143 a0001c0001t0094g0139 a0001c0001t0096g0136 a0001c0002t0002g0002 a0001c0002t0008g0003 a0001c0002t0014g0009 a0001c0002t0021g0115 a0001c0002t0026g0123 a0001c0002t0026g0126 a0001c0002t0037g0116 a0001c0002t0083g0138 a0001c0002t0090g0119 a0001c0003t0028g0132 a0001c0003t0080g0125 a0001c0003t0082g0131 a0001c0003t0089g0129 a0001c0004t0046g0159 a0001c0004t0091g0135 a0001c0004t0092g0130 a0001c0006t0024g0137 a0001c0009t0034g0158	44	45	0.9778	-30	c.-51 others(39): Show c.-519_-490delGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding					280		chr17	TogoVar
PRKCA_chr17_66297613_66815743	66587683	GTGTGTGT others(23): Show GTGTGTGTATATGTATACATATATACGTATA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00673.hp2 others(46): Show HG00280.hp1 HG00323.hp1 HG00673.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01099.hp2 HG01928.hp1 HG01928.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02132.hp1 HG02258.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02809.hp2 HG02886.hp2 HG02922.hp1 HG02965.hp2 HG03098.hp2 HG03195.hp2 HG03453.hp2 HG03579.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG04115.hp2 NA18522.hp2 NA18942.hp1 NA18943.hp2 NA18945.hp1 NA18950.hp1 NA18967.hp1 NA18979.hp1 NA18986.hp2 NA18999.hp2 NA19010.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(38): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0023 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0033 a0001c0001t0047 a0001c0001t0055 a0001c0001t0060 a0001c0001t0067 a0001c0001t0069 a0001c0001t0073 a0001c0001t0075 a0001c0001t0081 a0001c0001t0088 a0001c0001t0095 a0001c0001t0098 a0001c0002t0004 a0001c0002t0006 a0001c0002t0010 a0001c0002t0013 a0001c0002t0014 a0001c0002t0015 a0001c0002t0021 a0001c0002t0031 a0001c0002t0049 a0001c0002t0066 a0001c0002t0076 a0001c0002t0083 a0001c0003t0002 a0001c0003t0006 a0001c0003t0009 a0001c0004t0092 a0001c0005t0011 a0001c0005t0039	a0001c0001t0001g0065 a0001c0001t0002g0011 a0001c0001t0002g0060 others(46): Show a0001c0001t0001g0065 a0001c0001t0002g0011 a0001c0001t0002g0060 a0001c0001t0002g0075 a0001c0001t0005g0007 a0001c0001t0005g0084 a0001c0001t0005g0161 a0001c0001t0005g0173 a0001c0001t0008g0022 a0001c0001t0015g0100 a0001c0001t0016g0150 a0001c0001t0020g0169 a0001c0001t0023g0111 a0001c0001t0025g0141 a0001c0001t0027g0133 a0001c0001t0028g0140 a0001c0001t0033g0035 a0001c0001t0047g0049 a0001c0001t0055g0062 a0001c0001t0060g0154 a0001c0001t0067g0095 a0001c0001t0069g0063 a0001c0001t0073g0010 a0001c0001t0075g0033 a0001c0001t0081g0127 a0001c0001t0088g0142 a0001c0001t0095g0037 a0001c0001t0098g0149 a0001c0002t0004g0031 a0001c0002t0006g0028 a0001c0002t0010g0057 a0001c0002t0010g0068 a0001c0002t0013g0041 a0001c0002t0013g0051 a0001c0002t0014g0009 a0001c0002t0015g0109 a0001c0002t0021g0115 a0001c0002t0031g0015 a0001c0002t0049g0034 a0001c0002t0066g0093 a0001c0002t0076g0032 a0001c0002t0083g0138 a0001c0003t0002g0079 a0001c0003t0006g0070 a0001c0003t0009g0055 a0001c0004t0092g0130 a0001c0005t0011g0047 a0001c0005t0011g0048 a0001c0005t0039g0108	49	175	0.2800	-30	c.289 others(49): Show c.289-53574_289-53545delATATGTATACATATATACGTATATGT GTGT		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66798626	ATGGTGGT others(23): Show ATGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	A A	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0078	a0001c0001t0078g0144 a0001c0001t0078g0144	1	109	0.0092	-30	c.185 others(49): Show c.1855-5229_1855-5200delGTGGTGGTGGTGGTGGTGGTGGTGGT GGTG		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66798764	GTGGTGGT others(23): Show GTGGTGGTGGTGATGGTGGTGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0045 a0001c0001t0004g0045	1	165	0.0061	-30	c.185 others(49): Show c.1855-5097_1855-5068delATGGTGGTGGTGGTGGTGATGGTGGT GGTG		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCB_chr16_23830983_24225611	23865499	ATATATAT others(23): Show ATATATATATATATATATATGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0001 a0001c0001t0042g0001	1	135	0.0074	-30	c.205 others(49): Show c.205+28095_205+28124delATATATATATATATATATGTGTGTGT GTGT		PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	23865513	ATATATGT others(23): Show ATATATGTGTGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0057 a0001c0003t0057	a0001c0003t0057g0125 a0001c0003t0057g0125	1	143	0.0070	-30	c.205 others(49): Show c.205+28109_205+28138delATATGTGTGTGTGTGTGTGTGTGTGT GTGT		PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCE_chr2_45646675_46192990	45751792	CTCCAAAG others(23): Show CTCCAAAGCTAACCACTATTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0095 a0001c0001t0026g0095	1	166	0.0060	-30	c.349 others(49): Show c.349-91206_349-91177delCCAAAGCTAACCACTATTTTTTTTTT TTTT		PRKCE	ENSG00000171132.14	transcript	ENST00000306156.8	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr2	TogoVar
PRKCE_chr2_45646675_46192990	45884954	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	79	0.0127	-30	c.412 others(49): Show c.412+41910_412+41939delATATATATATATATATATATATATAT ATAT		PRKCE	ENSG00000171132.14	transcript	ENST00000306156.8	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr2	TogoVar
PRKCG_chr19_53877197_53912652	53878632	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG01952.hp1 HG02155.hp1 others(2): Show HG00673.hp2 HG01952.hp1 HG02155.hp1 NA18950.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0204 a0001c0002t0001g0082 a0001c0002t0001g0126 others(2): Show a0001c0001t0001g0204 a0001c0002t0001g0082 a0001c0002t0001g0126 a0001c0002t0001g0152 a0001c0002t0001g0200	5	354	0.0141	-30	c.-38 others(41): Show c.-3862_-3833delAAAAAAAAAAAAAAAAAAATATATATATAT		PRKCG	ENSG00000126583.12	transcript	ENST00000263431.4	protein_coding					3564		chr19	TogoVar
PRKCG_chr19_53877197_53912652	53878634	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01981.hp2 HG02027.hp2 others(17): Show HG01109.hp1 HG01981.hp2 HG02027.hp2 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02300.hp1 HG02683.hp1 HG02886.hp2 HG03209.hp1 HG03486.hp2 HG03688.hp1 HG03688.hp2 HG04115.hp2 NA18943.hp2 NA18966.hp1 NA18993.hp2 NA18998.hp2 NA20752.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0004t0002 a0001c0001t0001 a0001c0002t0001 a0001c0004t0002	a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0175 others(16): Show a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0175 a0001c0001t0001g0249 a0001c0001t0001g0256 a0001c0001t0001g0260 a0001c0001t0001g0287 a0001c0001t0001g0299 a0001c0002t0001g0060 a0001c0002t0001g0088 a0001c0002t0001g0097 a0001c0002t0001g0105 a0001c0002t0001g0110 a0001c0002t0001g0125 a0001c0002t0001g0130 a0001c0002t0001g0165 a0001c0002t0001g0236 a0001c0004t0002g0335 a0001c0004t0002g0339	20	306	0.0654	-30	c.-38 others(41): Show c.-3860_-3831delAAAAAAAAAAAAAAAAATATATATATATAT		PRKCG	ENSG00000126583.12	transcript	ENST00000263431.4	protein_coding					3562		chr19	TogoVar
PRKCG_chr19_53877197_53912652	53878636	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG00735.hp2 HG01256.hp2 others(12): Show HG00621.hp2 HG00735.hp2 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01361.hp2 HG01433.hp1 HG03516.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 NA18944.hp1 NA18944.hp2 NA18950.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0005 a0001c0001t0001g0160 a0001c0001t0001g0172 others(11): Show a0001c0001t0001g0005 a0001c0001t0001g0160 a0001c0001t0001g0172 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0232 a0001c0001t0001g0241 a0001c0001t0001g0253 a0001c0001t0001g0259 a0001c0002t0001g0090 a0001c0002t0001g0104 a0001c0002t0001g0113 a0001c0002t0001g0128 a0001c0002t0001g0176	15	247	0.0607	-30	c.-38 others(41): Show c.-3858_-3829delAAAAAAAAAAAAAAATATATATATATATAT		PRKCG	ENSG00000126583.12	transcript	ENST00000263431.4	protein_coding					3560		chr19	TogoVar
PRKCZ_chr1_2045411_2190395	2121832	GGTAGTTA others(23): Show GGTAGTTAGGTTCATGGTGGTGGTTAGGGTC	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0194 a0001c0003t0001g0194	1	238	0.0042	-30	c.335 others(49): Show c.335-13427_335-13398delAGTTAGGTTCATGGTGGTGGTTAGGG TCGT		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122024	GGTAGTTA others(23): Show GGTAGTTAGGTTCATGGTGGTGGTTAGGGTC	G G	intron_variant intron_variant	MODIFIER	HG01358.hp1 NA18947.hp2 NA18993.hp1 others(1): Show HG01358.hp1 NA18947.hp2 NA18993.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0054 a0001c0001t0001g0076 a0001c0001t0001g0202 others(1): Show a0001c0001t0001g0054 a0001c0001t0001g0076 a0001c0001t0001g0202 a0001c0001t0002g0044	4	270	0.0148	-30	c.335 others(49): Show c.335-13235_335-13206delAGTTAGGTTCATGGTGGTGGTTAGGG TCGT		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122057	GGTGGTTA others(23): Show GGTGGTTAGGGTCACGGTGGTAGTTAGGGTC	G G	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03942.hp1 NA18943.hp1 HG03831.hp2 HG03942.hp1 NA18943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0001 a0001c0002t0004	a0001c0002t0001g0221 a0001c0002t0001g0268 a0001c0002t0004g0149 a0001c0002t0001g0221 a0001c0002t0001g0268 a0001c0002t0004g0149	3	255	0.0118	-30	c.335 others(49): Show c.335-13199_335-13170delTAGGGTCACGGTGGTAGTTAGGGTCG TGGT		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122550	CACGGTGG others(23): Show CACGGTGGTGGTTAGGGTCGTGGTGGTTAGG	C C	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0231 a0001c0003t0003g0231	1	269	0.0037	-30	c.335 others(49): Show c.335-12711_335-12682delACGGTGGTGGTTAGGGTCGTGGTGGT TAGG		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17						chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122619	GGTGGTGG others(23): Show GGTGGTGGTTAGGGTTGTGGTGGTTAGGGTT	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0167 a0001c0002t0001g0167	1	271	0.0037	-30	c.335 others(49): Show c.335-12628_335-12599delTGTGGTGGTTAGGGTTGTGGTGGTTA GGGT		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122829	GGCGGTGG others(23): Show GGCGGTGGTTAGGGTTGTGGTGGTTAGGGTT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00738.hp1 HG01099.hp2 others(13): Show HG00140.hp1 HG00738.hp1 HG01099.hp2 HG01123.hp2 HG01192.hp2 HG01255.hp1 HG01891.hp2 HG02055.hp1 HG02109.hp2 HG03239.hp2 HG04204.hp1 NA18948.hp1 NA18975.hp1 NA19077.hp2 NA20129.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004	a0001c0001t0001g0168 a0001c0002t0001g0216 a0001c0002t0001g0218 others(13): Show a0001c0001t0001g0168 a0001c0002t0001g0216 a0001c0002t0001g0218 a0001c0002t0001g0246 a0001c0002t0001g0285 a0001c0003t0001g0051 a0001c0003t0001g0111 a0001c0003t0001g0114 a0001c0003t0001g0127 a0001c0003t0003g0187 a0001c0003t0003g0188 a0001c0003t0003g0190 a0001c0003t0003g0191 a0001c0003t0003g0193 a0001c0003t0003g0199 a0001c0003t0004g0129	16	283	0.0565	-30	c.335 others(49): Show c.335-12431_335-12402delCGGTGGTTAGGGTTGTGGTGGTTAGG GTTG		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123363	TGGTTAGG others(23): Show TGGTTAGGGTTGTGGTGGTTAGGGTCGTGGC	T T	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0268 a0001c0002t0001g0268	1	282	0.0035	-30	c.335 others(49): Show c.335-11895_335-11866delTAGGGTTGTGGTGGTTAGGGTCGTGG CGGT		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123525	CGGTGGTT others(23): Show CGGTGGTTAGGGTTGTGGTGGTTAGGGTTGT	C C	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0268 a0001c0002t0001g0268	1	196	0.0051	-30	c.335 others(49): Show c.335-11724_335-11695delTGTGGTGGTTAGGGTTGTGGTGGTTA GGGT		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKG1_chr10_51069487_52303350	52188263	CATATGTA others(23): Show CATATGTATATATATACATATATATGTGTAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp2 HG01243.hp2 others(9): Show HG00140.hp1 HG00639.hp2 HG01243.hp2 HG01496.hp1 HG02559.hp2 HG02622.hp1 HG02965.hp2 HG02976.hp1 HG03225.hp1 HG03834.hp2 NA19240.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0006t0007 a0002c0004t0001	a0001c0001t0001g0019 a0001c0001t0001g0062 a0001c0001t0002g0026 others(9): Show a0001c0001t0001g0019 a0001c0001t0001g0062 a0001c0001t0002g0026 a0001c0001t0003g0023 a0001c0001t0004g0035 a0001c0001t0005g0022 a0001c0001t0009g0039 a0001c0002t0002g0025 a0001c0002t0003g0030 a0001c0002t0006g0024 a0001c0006t0007g0050 a0002c0004t0001g0044	12	64	0.1875	-30	c.107 others(51): Show c.1076+26305_1076+26334delGTATATATATACATATATATGTGT ATATAT		PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	9/17					INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKN_chr6_161342417_162732766	161821719	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02602.hp1 HG02976.hp2 HG01192.hp1 HG02602.hp1 HG02976.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0007 a0001c0001t0001 a0001c0001t0003 a0002c0002t0007	a0001c0001t0001g0005 a0001c0001t0003g0029 a0002c0002t0007g0008 a0001c0001t0001g0005 a0001c0001t0003g0029 a0002c0002t0007g0008	3	5	0.6000	-30	c.735 others(49): Show c.735-35841_735-35812delAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA		PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	6/11						chr6	TogoVar
PRKN_chr6_161342417_162732766	162556342	GGTGTGTG others(23): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02922.hp2 HG03688.hp1 HG02602.hp2 HG02922.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0001 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0023 a0001c0001t0004g0002 a0001c0001t0005g0003 a0001c0001t0001g0023 a0001c0001t0004g0002 a0001c0001t0005g0003	3	14	0.2143	-30	c.8-1 others(47): Show c.8-112899_8-112870delACACACACACACACACACACACACACAC AC		PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	1/11						chr6	TogoVar
PRKRIP1_chr7_102391363_102431666	102419845	TTGTGTGT others(23): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0074	1	31	0.0323	-30	c.458 others(47): Show c.458-5147_458-5118delGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT		PRKRIP1	ENSG00000128563.13	transcript	ENST00000397912.3	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr7	TogoVar
PRKX_chrX_3599340_3718649	3653597	TATATACT others(23): Show TATATACTATGTAATATATATATTATATATA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02630.hp1 HG02451.hp2 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0055 a0001c0007t0079 a0001c0002t0055 a0001c0007t0079	a0001c0002t0055g0043 a0001c0007t0079g0090 a0001c0002t0055g0043 a0001c0007t0079g0090	2	224	0.0089	-30	c.599 others(47): Show c.599+1522_599+1551delTATATATAATATATATATTACATAGTAT AT		PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	3/8						chrX	TogoVar
PRKX_chrX_3599340_3718649	3653649	TTATATAT others(23): Show TTATATATAATATACTATGTGATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01243.hp1 HG02572.hp1 others(3): Show HG01070.hp2 HG01243.hp1 HG02572.hp1 HG02622.hp1 HG02970.hp1 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0007 a0001c0002t0042 others(2): Show a0001c0002t0001 a0001c0002t0007 a0001c0002t0042 a0001c0002t0046 a0001c0002t0086	a0001c0002t0001g0070 a0001c0002t0001g0073 a0001c0002t0007g0159 others(3): Show a0001c0002t0001g0070 a0001c0002t0001g0073 a0001c0002t0007g0159 a0001c0002t0042g0089 a0001c0002t0046g0049 a0001c0002t0086g0116	6	106	0.0566	-30	c.599 others(47): Show c.599+1470_599+1499delTTATATATATCACATAGTATATTATATA TA		PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	3/8						chrX	TogoVar
PRKX_chrX_3599340_3718649	3653747	AATATACT others(23): Show AATATACTATGTGATATATATAATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG03098.hp1 NA19079.hp1 HG02074.hp1 HG03098.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0008 a0001c0001t0005 a0001c0001t0008	a0001c0001t0005g0010 a0001c0001t0005g0016 a0001c0001t0008g0180 a0001c0001t0005g0010 a0001c0001t0005g0016 a0001c0001t0008g0180	3	106	0.0283	-30	c.599 others(47): Show c.599+1372_599+1401delAATATATATTATATATATCACATAGTAT AT		PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	3/8						chrX	TogoVar
PRKX_chrX_3599340_3718649	3653799	ATATATAT others(23): Show ATATATATTATATACTATGTGATATATATAT	T T	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19063.hp1 NA19004.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0074 a0001c0001t0006 a0001c0001t0074	a0001c0001t0006g0012 a0001c0001t0074g0100 a0001c0001t0006g0012 a0001c0001t0074g0100	2	104	0.0192	-30	c.599 others(47): Show c.599+1321_599+1350delTATATATATCACATAGTATATAATATAT AT		PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	3/8						chrX	TogoVar
PRLR_chr5_35050702_35235487	35196035	TAAATAAA others(23): Show TAAATAAAATAAAATAAAATAAAATAAAATA	T T	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03516.hp2 HG03098.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0029 a0001c0001t0006g0030 a0001c0001t0006g0029 a0001c0001t0006g0030	2	3	0.6667	-30	c.-10 others(51): Show c.-106+34203_-106+34232delTATTTTATTTTATTTTATTTTATT TTATTT		PRLR	ENSG00000113494.17	transcript	ENST00000618457.5	protein_coding	1/9						chr5	TogoVar
PRNP_chr20_4681456_4706588	4699850	TGAGCAGA others(23): Show TGAGCAGATGTGTATCACCCAGTACGAGAGG	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00597.hp2 HG00597.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0001 a0006c0010t0001g0001	1	330	0.0030	-30	c.633 others(37): Show c.633_662delGCAGATGTGTATCACCCAGTACGAGAGGGA	p.Gln others(13): Show p.Gln212_Glu221del	PRNP	ENSG00000171867.18	transcript	ENST00000379440.9	protein_coding	2/2	700/2435	633/762	211/253		INFO_REALIGN_3_PRIME	chr20	TogoVar
PROK1_chr1_110446149_110462358	110458039	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00621.hp1 HG01099.hp1 others(29): Show HG00544.hp2 HG00621.hp1 HG01099.hp1 HG01169.hp2 HG01243.hp2 HG01884.hp2 HG01928.hp2 HG02080.hp2 HG02572.hp2 HG02602.hp2 HG02738.hp1 HG02976.hp2 HG03098.hp2 HG03471.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 NA18945.hp2 NA18947.hp1 NA18952.hp1 NA18955.hp2 NA18957.hp1 NA18972.hp1 NA18979.hp1 NA18985.hp2 NA19000.hp1 NA19002.hp2 NA19010.hp2 NA19030.hp2 NA19060.hp2 NA19066.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0001c0001t0001 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0011 a0002c0002t0001g0001 others(5): Show a0001c0001t0001g0002 a0001c0001t0001g0011 a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0014 a0002c0002t0001g0049 a0003c0003t0001g0006	32	186	0.1720	-30	c.16 others(41): Show c.1689_*1718delTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		PROK1	ENSG00000143125.6	transcript	ENST00000271331.4	protein_coding					682		chr1	TogoVar
PROKR2_chr20_5294218_5321954	5298393	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGTGTGTGCGCGCGCGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01243.hp1 HG01433.hp2 others(12): Show HG01106.hp2 HG01243.hp1 HG01433.hp2 HG02055.hp1 HG03041.hp1 HG03239.hp1 HG03688.hp2 HG03831.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp2 NA18946.hp1 NA19081.hp1 NA19081.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0013 a0001c0001t0016 others(2): Show a0001c0001t0002 a0001c0001t0013 a0001c0001t0016 a0001c0001t0028 a0001c0004t0004	a0001c0001t0002g0002 a0001c0001t0002g0124 a0001c0001t0013g0138 others(4): Show a0001c0001t0002g0002 a0001c0001t0002g0124 a0001c0001t0013g0138 a0001c0001t0016g0032 a0001c0001t0028g0050 a0001c0004t0004g0004 a0001c0004t0004g0028	15	422	0.0355	-30	c.36 others(41): Show c.3617_*3646delGCGCGCGCGCACACACACACACACACACAC		PROKR2	ENSG00000101292.8	transcript	ENST00000678254.1	protein_coding					824		chr20	TogoVar
PROM2_chr2_95269449_95296302	95294205	TCTCTCTC others(23): Show TCTCTCTCTCTCTCCCCCCTGTACCCCTCAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0094 a0003c0003t0001g0094	1	370	0.0027	-30	c.49 others(41): Show c.4993_*5022delCTCTCTCTCTCTCCCCCCTGTACCCCTCAG		PROM2	ENSG00000155066.16	transcript	ENST00000317620.14	protein_coding					2904		chr2	TogoVar
PROZ_chr13_113153648_113177386	113154176	GGGGGAGG others(23): Show GGGGGAGGAGGGGCGTGGGGGGGCGGGCCGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	376	0.0027	-30	c.-44 others(41): Show c.-4484_-4455delGGGGAGGAGGGGCGTGGGGGGGCGGGCCGT		PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding					4471		chr13	TogoVar
PROZ_chr13_113153648_113177386	113154192	GGGGGGGC others(23): Show GGGGGGGCGGGCCGTGGGGGAGGAGGGGCGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01257.hp1 HG01934.hp2 others(10): Show HG01106.hp1 HG01257.hp1 HG01934.hp2 HG02280.hp2 HG02486.hp2 HG02622.hp1 HG02976.hp2 HG03492.hp2 NA18998.hp1 NA19004.hp2 NA19058.hp2 NA19083.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0004 a0001c0001t0001 a0001c0002t0004	a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0025 others(10): Show a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0025 a0001c0001t0001g0033 a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0062 a0001c0001t0001g0102 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0150 a0001c0001t0001g0168 a0001c0002t0004g0271	13	376	0.0346	-30	c.-44 others(41): Show c.-4468_-4439delGGGGGGCGGGCCGTGGGGGAGGAGGGGCGT		PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding					4455		chr13	TogoVar
PROZ_chr13_113153648_113177386	113174453	CAAAACAG others(23): Show CAAAACAGTAAAACTCAAGAAAAGGGAAGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	376	0.0027	-30	c.23 others(41): Show c.2349_*2378delAAAACAGTAAAACTCAAGAAAAGGGAAGCT		PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding					2068		chr13	TogoVar
PRPF4_chr9_113270658_113297905	113285343	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00673.hp2 HG01884.hp1 others(9): Show HG00438.hp1 HG00673.hp2 HG01884.hp1 HG01981.hp1 HG02055.hp2 HG02129.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG03453.hp2 HG03486.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0021 a0001c0001t0001g0029 a0001c0001t0001g0114 others(6): Show a0001c0001t0001g0021 a0001c0001t0001g0029 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0151 a0001c0001t0001g0163 a0001c0001t0001g0176 a0001c0001t0001g0185 a0001c0002t0003g0225	12	14	0.8571	-30	c.750 others(45): Show c.750-865_750-836delTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		PRPF4	ENSG00000136875.13	transcript	ENST00000374198.5	protein_coding	7/13					INFO_REALIGN_3_PRIME	chr9	TogoVar
PRR16_chr5_120459300_120692314	120491417	CCCTTTCC others(23): Show CCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(35): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00741.hp2 HG01071.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp2 HG01346.hp2 HG01358.hp1 HG02083.hp2 HG02109.hp1 HG02145.hp1 HG02273.hp1 HG02630.hp1 HG02698.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03831.hp1 HG03831.hp2 NA19091.hp2 NA20752.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0002c0002t0001	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(35): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0035 a0001c0001t0001g0048 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0144 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0002g0024 a0001c0001t0002g0123 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0004g0116 a0002c0002t0001g0015 a0002c0002t0001g0036 a0002c0002t0001g0047 a0002c0002t0001g0101 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141	38	111	0.3423	-30	c.159 others(49): Show c.159+26809_159+26838delCTTTCCTTTCCTTTCCTTTCCTTTCC TTTC		PRR16	ENSG00000184838.15	transcript	ENST00000407149.7	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr5	TogoVar
PRR23C_chr3_139037102_139049892	139047999	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp1 NA19063.hp2 NA18939.hp1 NA19063.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0010	a0001c0004t0010g0000 a0001c0004t0010g0000	2	67	0.0299	-30	c.-34 others(41): Show c.-3409_-3380delATATATATATATATATATATATATATATAT		PRR23C	ENSG00000233701.3	transcript	ENST00000413199.1	protein_coding					3108		chr3	TogoVar
PRRG3_chrX_151690458_151710924	151703856	GGTTTTTT others(23): Show GGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp2 HG01975.hp1 HG02071.hp1 others(7): Show HG00323.hp2 HG01975.hp1 HG02071.hp1 HG02735.hp1 HG03239.hp2 HG03491.hp1 HG03834.hp2 NA19002.hp2 NA19065.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 a0001c0001t0062 a0001c0001t0080 a0001c0005t0001	a0001c0001t0001g0031 a0001c0001t0001g0040 a0001c0001t0001g0041 others(7): Show a0001c0001t0001g0031 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0001g0053 a0001c0001t0006g0011 a0001c0001t0011g0001 a0001c0001t0062g0001 a0001c0001t0080g0001 a0001c0005t0001g0001	10	177	0.0565	-30	c.28 others(41): Show c.2824_*2853delGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		PRRG3	ENSG00000130032.17	transcript	ENST00000674457.1	protein_coding	4/4				2824		chrX	TogoVar
PRRG3_chrX_151690458_151710924	151703886	TTTTTTTT others(23): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTGTG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01081.hp1 HG03704.hp1 HG03704.hp2 HG01081.hp1 HG03704.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0086 a0001c0001t0023 a0001c0001t0086	a0001c0001t0023g0009 a0001c0001t0023g0062 a0001c0001t0086g0005 a0001c0001t0023g0009 a0001c0001t0023g0062 a0001c0001t0086g0005	3	333	0.0090	-30	c.28 others(41): Show c.2855_*2884delTTTTTTTTTTTTTTTTTTTTTTTTTTGTGT		PRRG3	ENSG00000130032.17	transcript	ENST00000674457.1	protein_coding	4/4				2855	INFO_REALIGN_3_PRIME	chrX	TogoVar
PRRT3_chr3_9940542_9957408	9956222	TGAGAAAA others(23): Show TGAGAAAATAAACAAAAGGGAGAACAGGTGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0009 a0003c0003t0001g0009	1	376	0.0027	-30	c.-39 others(41): Show c.-3988_-3959delCCACCTGTTCTCCCTTTTGTTTATTTTCTC		PRRT3	ENSG00000163704.13	transcript	ENST00000412055.6	protein_coding					3815		chr3	TogoVar
PRRT4_chr7_128345325_128366690	128346624	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0014 a0001c0007t0001g0014	1	446	0.0022	-30	c.42 others(41): Show c.4202_*4231delTAGAGAGAGAGAGAGAGAGAGAGAGAGAGA		PRRT4	ENSG00000224940.10	transcript	ENST00000446477.7	protein_coding					3700		chr7	TogoVar
PRRT4_chr7_128345325_128366690	128346634	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	1	444	0.0023	-30	c.41 others(41): Show c.4192_*4221delTATATATATATAGAGAGAGAGAGAGAGAGA		PRRT4	ENSG00000224940.10	transcript	ENST00000446477.7	protein_coding					3690		chr7	TogoVar
PRRT4_chr7_128345325_128366690	128346636	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp2 NA18979.hp1 NA18612.hp2 NA18979.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0003t0001 a0001c0002t0003 a0001c0003t0001	a0001c0002t0003g0001 a0001c0003t0001g0006 a0001c0002t0003g0001 a0001c0003t0001g0006	2	433	0.0046	-30	c.41 others(41): Show c.4190_*4219delTATATATATATATAGAGAGAGAGAGAGAGA		PRRT4	ENSG00000224940.10	transcript	ENST00000446477.7	protein_coding					3688		chr7	TogoVar

Search by Variant

Search

Search Results