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
PREP_chr6_105268218_105408082	105371500	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0154 a0002c0002t0013g0154	1	212	0.0047	22	c.595 others(39): Show c.595+1847_595+1868dupTTTTTTTTTTTTTTTTTTTTTT	PREP	ENSG00000085377.15	transcript	ENST00000652536.2	protein_coding	5/14			chr6	TogoVar
PREX1_chr20_48619252_48832999	48661444	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0251 a0004c0004t0001g0251	1	268	0.0037	22	c.173 others(41): Show c.1739-1384_1739-1383insATATATATATTTTTTTTTTTTT	PREX1	ENSG00000124126.14	transcript	ENST00000371941.4	protein_coding	15/39			chr20	TogoVar
PREX1_chr20_48619252_48832999	48661444	A A	AAAAAAAA others(15): Show AAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA19002.hp1 HG00621.hp2 NA19002.hp1	a0004 a0004	a0004c0004 a0004c0007 a0004c0004 a0004c0007	a0004c0004t0001 a0004c0007t0001 a0004c0004t0001 a0004c0007t0001	a0004c0004t0001g0030 a0004c0007t0001g0121 a0004c0004t0001g0030 a0004c0007t0001g0121	2	268	0.0075	22	c.173 others(41): Show c.1739-1384_1739-1383insATATATATATATATTTTTTTTT	PREX1	ENSG00000124126.14	transcript	ENST00000371941.4	protein_coding	15/39			chr20	TogoVar
PREX1_chr20_48619252_48832999	48661444	A A	AAAAAAAA others(15): Show AAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0088 a0004c0004t0001g0088	1	268	0.0037	22	c.173 others(41): Show c.1739-1384_1739-1383insATATATATATATATATTTTTTT	PREX1	ENSG00000124126.14	transcript	ENST00000371941.4	protein_coding	15/39			chr20	TogoVar
PREX1_chr20_48619252_48832999	48661444	A A	AAAAAATA others(15): Show AAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03834.hp1 NA18979.hp1 HG03834.hp1 NA18979.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0146 a0004c0004t0001g0200 a0004c0004t0001g0146 a0004c0004t0001g0200	2	268	0.0075	22	c.173 others(41): Show c.1739-1384_1739-1383insATATATATATATATATATTTTT	PREX1	ENSG00000124126.14	transcript	ENST00000371941.4	protein_coding	15/39			chr20	TogoVar
PREX1_chr20_48619252_48832999	48661468	T T	TATATATA others(15): Show TATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0170 a0003c0003t0001g0170	1	268	0.0037	22	c.173 others(41): Show c.1739-1408_1739-1407insGTGTATATATATATATATATAT	PREX1	ENSG00000124126.14	transcript	ENST00000371941.4	protein_coding	15/39			chr20	TogoVar
PREX1_chr20_48619252_48832999	48661468	T T	TATATATA others(15): Show TATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02897.hp2 NA19087.hp2 HG02897.hp2 NA19087.hp2	a0003 a0014 a0003 a0014	a0003c0003 a0014c0036 a0003c0003 a0014c0036	a0003c0003t0001 a0014c0036t0006 a0003c0003t0001 a0014c0036t0006	a0003c0003t0001g0162 a0014c0036t0006g0259 a0003c0003t0001g0162 a0014c0036t0006g0259	2	268	0.0075	22	c.173 others(41): Show c.1739-1408_1739-1407insGTATATATATATATATATATAT	PREX1	ENSG00000124126.14	transcript	ENST00000371941.4	protein_coding	15/39			chr20	TogoVar
PREX2_chr8_67947046_68242032	68135097	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp1 HG01884.hp1 others(3): Show HG00438.hp2 HG00621.hp1 HG01884.hp1 HG02630.hp1 HG03130.hp1 NA18940.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0001c0007 a0001c0015 others(3): Show a0001c0002 a0001c0007 a0001c0015 a0001c0018 a0001c0021 a0005c0051	a0001c0002t0002 a0001c0007t0011 a0001c0015t0013 others(3): Show a0001c0002t0002 a0001c0007t0011 a0001c0015t0013 a0001c0018t0001 a0001c0021t0006 a0005c0051t0001	a0001c0002t0002g0169 a0001c0007t0011g0010 a0001c0015t0013g0032 others(3): Show a0001c0002t0002g0169 a0001c0007t0011g0010 a0001c0015t0013g0032 a0001c0018t0001g0051 a0001c0021t0006g0080 a0005c0051t0001g0042	6	190	0.0316	22	c.398 others(39): Show c.3984+822_3984+823insGTGTGTGTGTGTGTGTGTGTGT	PREX2	ENSG00000046889.19	transcript	ENST00000288368.5	protein_coding	32/39		INFO_REALIGN_3_PRIME	chr8	TogoVar
PRF1_chr10_70592348_70607741	70601836	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAGAGAAAG	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18986.hp2 NA18949.hp1 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	2	442	0.0045	22	c.-31 others(37): Show c.-31+808_-31+809insCTTTCTCTTTTTTTTTTTTTTT	PRF1	ENSG00000180644.8	transcript	ENST00000441259.2	protein_coding	1/2			chr10	TogoVar
PRIM2_chr6_57312630_57651850	57345506	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTACA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02818.hp1 NA21309.hp2 HG01358.hp1 HG02818.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0009 a0002c0004t0004 a0001c0001t0001 a0001c0001t0009 a0002c0004t0004	a0001c0001t0001g0268 a0001c0001t0009g0247 a0002c0004t0004g0007 a0001c0001t0001g0268 a0001c0001t0009g0247 a0002c0004t0004g0007	3	300	0.0100	22	c.459 others(41): Show c.459+19462_459+19463insGTGTGTGTGTGTGTGTGTACAT	PRIM2	ENSG00000146143.19	transcript	ENST00000615550.5	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
PRIM2_chr6_57312630_57651850	57418383	G G	GGTTTTTT others(15): Show GGTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0179 a0001c0001t0002g0179	1	300	0.0033	22	c.693 others(41): Show c.693+36215_693+36216insGTTTTTTTTTTTTTTTTTTTTT	PRIM2	ENSG00000146143.19	transcript	ENST00000615550.5	protein_coding	7/13			chr6	TogoVar
PRIM2_chr6_57312630_57651850	57446418	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA18980.hp1 NA19003.hp2 others(4): Show HG00673.hp2 NA18980.hp1 NA19003.hp2 NA19007.hp2 NA19012.hp1 NA19058.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0003 a0001c0001t0003 a0001c0003t0003	a0001c0001t0003g0180 a0001c0001t0003g0186 a0001c0001t0003g0192 others(4): Show a0001c0001t0003g0180 a0001c0001t0003g0186 a0001c0001t0003g0192 a0001c0001t0003g0194 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0003t0003g0025	7	300	0.0233	22	c.694 others(41): Show c.694-60954_694-60953insTTTTTTTTTTTTTTTTTTTTTT	PRIM2	ENSG00000146143.19	transcript	ENST00000615550.5	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
PRIM2_chr6_57312630_57651850	57542939	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02809.hp2 HG03516.hp1 HG02630.hp2 HG02809.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0004g0163 a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0004g0163	3	300	0.0100	22	c.102 others(41): Show c.1020+5333_1020+5334insTTTTTTTTTTTTTTTTTTTTTT	PRIM2	ENSG00000146143.19	transcript	ENST00000615550.5	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
PRKAA1_chr5_40754389_40803374	40795006	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	402	0.0025	22	c.127 others(39): Show c.127+3056_127+3057insGTGTGTGTGTGTGTGTGTGTGT	PRKAA1	ENSG00000132356.12	transcript	ENST00000397128.7	protein_coding	1/8			chr5	TogoVar
PRKAA2_chr1_56640314_56720335	56655280	A A	ATATATAT others(15): Show ATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02698.hp2 NA19011.hp2 HG01256.hp2 HG02698.hp2 NA19011.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0037 a0001c0002t0202 a0001c0003t0020 a0001c0002t0037 a0001c0002t0202 a0001c0003t0020	a0001c0002t0037g0040 a0001c0002t0202g0045 a0001c0003t0020g0151 a0001c0002t0037g0040 a0001c0002t0202g0045 a0001c0003t0020g0151	3	412	0.0073	22	c.94+ others(37): Show c.94+9800_94+9801insATATATATATATTTTTTTTTTT	PRKAA2	ENSG00000162409.12	transcript	ENST00000371244.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKAA2_chr1_56640314_56720335	56655280	A A	ATATATAT others(15): Show ATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18992.hp1 NA18992.hp2 NA18943.hp2 NA18992.hp1 NA18992.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0040 a0001c0002t0070 a0001c0002t0206 a0001c0002t0040 a0001c0002t0070 a0001c0002t0206	a0001c0002t0040g0124 a0001c0002t0070g0035 a0001c0002t0206g0023 a0001c0002t0040g0124 a0001c0002t0070g0035 a0001c0002t0206g0023	3	412	0.0073	22	c.94+ others(37): Show c.94+9800_94+9801insATATATATATTTTTTTTTTTTT	PRKAA2	ENSG00000162409.12	transcript	ENST00000371244.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKAA2_chr1_56640314_56720335	56655280	A A	ATATATAT others(15): Show ATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18989.hp1 NA18971.hp2 NA18989.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0071 a0001c0002t0071	a0001c0002t0071g0038 a0001c0002t0071g0039 a0001c0002t0071g0038 a0001c0002t0071g0039	2	412	0.0049	22	c.94+ others(37): Show c.94+9800_94+9801insATATATATTTTTTTTTTTTTTT	PRKAA2	ENSG00000162409.12	transcript	ENST00000371244.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKAA2_chr1_56640314_56720335	56695184	A A	ATATATAT others(15): Show ATATATATATATATATGATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02622.hp2 HG02630.hp1 others(8): Show HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG03225.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0060 a0001c0001t0065 others(4): Show a0001c0001t0026 a0001c0001t0060 a0001c0001t0065 a0001c0001t0174 a0001c0001t0175 a0001c0001t0176 a0001c0001t0177	a0001c0001t0026g0295 a0001c0001t0026g0296 a0001c0001t0026g0297 others(8): Show a0001c0001t0026g0295 a0001c0001t0026g0296 a0001c0001t0026g0297 a0001c0001t0026g0301 a0001c0001t0060g0303 a0001c0001t0065g0014 a0001c0001t0065g0304 a0001c0001t0174g0014 a0001c0001t0175g0298 a0001c0001t0176g0302 a0001c0001t0177g0300	11	412	0.0267	22	c.564 others(37): Show c.564-736_564-735insGATATATTATATATATATATAT	PRKAA2	ENSG00000162409.12	transcript	ENST00000371244.9	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKAA2_chr1_56640314_56720335	56697012	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02895.hp1 HG02897.hp1 others(1): Show HG02622.hp2 HG02895.hp1 HG02897.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0026 a0001c0001t0176 a0001c0002t0191 a0001c0001t0026 a0001c0001t0176 a0001c0002t0191	a0001c0001t0026g0297 a0001c0001t0026g0301 a0001c0001t0176g0302 others(1): Show a0001c0001t0026g0297 a0001c0001t0026g0301 a0001c0001t0176g0302 a0001c0002t0191g0024	4	412	0.0097	22	c.788 others(37): Show c.788+868_788+869insTTTTTTTTTTTTTTTTTTTTTT	PRKAA2	ENSG00000162409.12	transcript	ENST00000371244.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKACA_chr19_14086688_14122762	14109963	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	358	0.0028	22	c.47- others(37): Show c.47-2555_47-2554insATATATATATATATATATATAT	PRKACA	ENSG00000072062.16	transcript	ENST00000308677.9	protein_coding	1/9			chr19	TogoVar
PRKACA_chr19_14086688_14122762	14109965	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	358	0.0028	22	c.47- others(37): Show c.47-2578_47-2557dupATATATATATATATATATATAT	PRKACA	ENSG00000072062.16	transcript	ENST00000308677.9	protein_coding	1/9			chr19	TogoVar
PRKACB_chr1_84139271_84243498	84180183	G G	GATATATA others(15): Show GATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01192.hp1 HG01243.hp2 others(8): Show HG01168.hp2 HG01192.hp1 HG01243.hp2 HG01516.hp1 HG01943.hp2 HG01975.hp2 HG02004.hp1 HG02280.hp1 HG02293.hp1 HG03490.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0018	a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0120 others(8): Show a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0120 a0001c0001t0001g0145 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0184 a0001c0001t0001g0245 a0001c0001t0002g0258 a0001c0001t0004g0217 a0001c0001t0018g0059	11	320	0.0344	22	c.249 others(37): Show c.249+950_249+971dupATATATATATATATATATATAT	PRKACB	ENSG00000142875.21	transcript	ENST00000370685.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKAG2_chr7_151551127_151882115	151842248	A A	AGGGATGG others(15): Show AGGGATGGTAGTGATGGTAGGTG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01109.hp2 HG01243.hp2 others(4): Show HG00735.hp1 HG01109.hp2 HG01243.hp2 HG02055.hp1 HG02615.hp2 HG02630.hp2 HG02895.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0012 a0001c0001 a0005c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 a0001c0001t0019 a0001c0001t0020 a0005c0012t0006	a0001c0001t0001g0138 a0001c0001t0001g0146 a0001c0001t0002g0040 others(4): Show a0001c0001t0001g0138 a0001c0001t0001g0146 a0001c0001t0002g0040 a0001c0001t0015g0240 a0001c0001t0019g0003 a0001c0001t0020g0006 a0005c0012t0006g0149	7	252	0.0278	22	c.114 others(41): Show c.114+34258_114+34259insCACCTACCATCACTACCATCCC	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRKAR1A_chr17_68507430_68538431	68510159	C C	CAGAGAGA others(15): Show CAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01175.hp2 NA18943.hp2 others(8): Show HG00738.hp1 HG01175.hp2 NA18943.hp2 NA18973.hp1 NA18989.hp2 NA18993.hp2 NA19005.hp1 NA19007.hp2 NA19010.hp1 NA19079.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0024 a0001c0001t0002 a0001c0001t0024	a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0040 others(1): Show a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0040 a0001c0001t0024g0002	11	412	0.0267	22	c.-23 others(33): Show c.-2396_-2395insAGAGAGAGAGAGAGAGAGAGAG	PRKAR1A	ENSG00000108946.17	transcript	ENST00000589228.6	protein_coding		2270		chr17	TogoVar
PRKAR2A_chr3_48741586_48852874	48829590	A A	ACACACAT others(15): Show ACACACATAAATATATATGTGTG	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0151 a0001c0001t0011g0151	1	166	0.0060	22	c.262 others(41): Show c.262+17744_262+17745insCACACATATATATTTATGTGTG	PRKAR2A	ENSG00000114302.17	transcript	ENST00000265563.13	protein_coding	1/10			chr3	TogoVar
PRKAR2A_chr3_48741586_48852874	48836419	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0037 a0001c0001t0004g0037	1	166	0.0060	22	c.262 others(41): Show c.262+10894_262+10915dupTTTTTTTTTTTTTTTTTTTTTT	PRKAR2A	ENSG00000114302.17	transcript	ENST00000265563.13	protein_coding	1/10			chr3	TogoVar
PRKAR2B_chr7_107039705_107166811	107126420	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0135 a0001c0001t0002g0135	1	282	0.0036	22	c.397 others(39): Show c.397-1790_397-1769dupAAAAAAAAAAAAAAAAAAAAAA	PRKAR2B	ENSG00000005249.14	transcript	ENST00000265717.5	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
PRKAR2B_chr7_107039705_107166811	107161979	G G	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	282	0.0036	22	c.23 others(33): Show c.2397_*2398insGTGTGTGTGTGTGTGTGTGTGT	PRKAR2B	ENSG00000005249.14	transcript	ENST00000265717.5	protein_coding		169		chr7	TogoVar
PRKCA_chr17_66297613_66815743	66302457	C C	CCGCCGCA others(15): Show CCGCCGCACCCTCGCCGCACCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG03579.hp1 HG01243.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0077 a0001c0003t0009 a0001c0001t0077 a0001c0003t0009	a0001c0001t0077g0056 a0001c0003t0009g0055 a0001c0001t0077g0056 a0001c0003t0009g0055	2	178	0.0112	22	c.-39 others(31): Show c.-395_-394insCGCCGCACCCTCGCCGCACCCT	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding		155		chr17	TogoVar
PRKCA_chr17_66297613_66815743	66406585	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0049 a0001c0002t0049	a0001c0002t0049g0145 a0001c0002t0049g0145	1	178	0.0056	22	c.206 others(41): Show c.206-89613_206-89592dupTTTTTTTTTTTTTTTTTTTTTT	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66424565	T T	TCAGACAC others(15): Show TCAGACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02257.hp2 NA18950.hp2 HG00323.hp1 HG02257.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0097 a0001c0001t0005 a0001c0001t0097	a0001c0001t0005g0001 a0001c0001t0005g0009 a0001c0001t0097g0050 a0001c0001t0005g0001 a0001c0001t0005g0009 a0001c0001t0097g0050	3	178	0.0169	22	c.206 others(41): Show c.206-71634_206-71633insGACACACACACACACACACACA	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66424568	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG06807.hp1 NA18986.hp1 others(1): Show HG02615.hp2 HG06807.hp1 NA18986.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0009 a0001c0001t0033 others(1): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0033 a0001c0002t0052	a0001c0001t0001g0003 a0001c0001t0009g0092 a0001c0001t0033g0035 others(1): Show a0001c0001t0001g0003 a0001c0001t0009g0092 a0001c0001t0033g0035 a0001c0002t0052g0040	4	178	0.0225	22	c.206 others(41): Show c.206-71623_206-71602dupCACACACACACACACACACACA	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66566472	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0051 a0001c0002t0051	a0001c0002t0051g0099 a0001c0002t0051g0099	1	178	0.0056	22	c.288 others(41): Show c.288+70195_288+70196insTTTTTTTTTTTTTTTTTTTTTT	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCB_chr16_23830983_24225611	23863215	C C	CATACATA others(15): Show CATACATATATATGTGTATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01167.hp1 HG01169.hp1 others(5): Show HG01123.hp1 HG01167.hp1 HG01169.hp1 HG02109.hp2 HG02486.hp1 HG02976.hp1 HG03486.hp1 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0005 others(1): Show a0001c0002 a0001c0004 a0001c0005 a0001c0009	a0001c0002t0023 a0001c0004t0002 a0001c0004t0007 others(4): Show a0001c0002t0023 a0001c0004t0002 a0001c0004t0007 a0001c0004t0009 a0001c0005t0003 a0001c0005t0051 a0001c0009t0067	a0001c0002t0023g0079 a0001c0004t0002g0009 a0001c0004t0002g0010 others(5): Show a0001c0002t0023g0079 a0001c0004t0002g0009 a0001c0004t0002g0010 a0001c0004t0007g0041 a0001c0004t0009g0011 a0001c0005t0003g0042 a0001c0005t0051g0040 a0001c0009t0067g0012	8	148	0.0541	22	c.205 others(41): Show c.205+25822_205+25843dupGTGTATATATATACATATATAT	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	23882017	T T	TCTCTTTC others(15): Show TCTCTTTCTTTCTTTCTTTCTTC	intron_variant intron_variant	MODIFIER	HG01346.hp1 NA18983.hp1 HG01346.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0018 a0001c0001t0005 a0001c0002t0018	a0001c0001t0005g0078 a0001c0002t0018g0088 a0001c0001t0005g0078 a0001c0002t0018g0088	2	148	0.0135	22	c.205 others(41): Show c.205+44613_205+44614insCTTTCTTTCTTTCTTTCTTCCT	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	23882021	T T	TCTCTTTC others(15): Show TCTCTTTCTTTCTTTCTTTCTTC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02976.hp2 HG04199.hp2 others(1): Show HG02809.hp1 HG02976.hp2 HG04199.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0007 others(1): Show a0001c0002 a0001c0004 a0001c0007 a0001c0013	a0001c0002t0070 a0001c0004t0009 a0001c0007t0022 others(1): Show a0001c0002t0070 a0001c0004t0009 a0001c0007t0022 a0001c0013t0048	a0001c0002t0070g0045 a0001c0004t0009g0092 a0001c0007t0022g0089 others(1): Show a0001c0002t0070g0045 a0001c0004t0009g0092 a0001c0007t0022g0089 a0001c0013t0048g0047	4	148	0.0270	22	c.205 others(41): Show c.205+44617_205+44618insCTTTCTTTCTTTCTTTCTTCCT	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	24020976	T T	TTCTTTCT others(15): Show TTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0064 a0001c0003t0001g0064	1	148	0.0068	22	c.289 others(41): Show c.289-11159_289-11158insCTTTCTTTCTTTCTTTCTTTCT	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	24096660	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0044 a0001c0003t0044	a0001c0003t0044g0131 a0001c0003t0044g0131	1	148	0.0068	22	c.821 others(39): Show c.821+2364_821+2365insTATATATATATATATATATATA	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	24182872	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0068 a0001c0002t0068	a0001c0002t0068g0050 a0001c0002t0068g0050	1	148	0.0068	22	c.153 others(41): Show c.1533+1944_1533+1945insGTGTGTGTGTGTGTGTGTGTGT	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	13/16			chr16	TogoVar
PRKCB_chr16_23830983_24225611	24182873	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01123.hp1 HG01123.hp2 others(12): Show HG00642.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG02109.hp2 HG02145.hp2 HG02258.hp1 HG02300.hp2 HG02559.hp2 HG03209.hp2 HG03453.hp2 HG03540.hp1 NA19030.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0009	a0001c0001t0019 a0001c0002t0002 a0001c0002t0012 others(9): Show a0001c0001t0019 a0001c0002t0002 a0001c0002t0012 a0001c0003t0007 a0001c0003t0025 a0001c0003t0065 a0001c0003t0074 a0001c0004t0007 a0001c0004t0053 a0001c0004t0077 a0001c0009t0038 a0001c0009t0067	a0001c0001t0019g0102 a0001c0002t0002g0132 a0001c0002t0012g0098 others(12): Show a0001c0001t0019g0102 a0001c0002t0002g0132 a0001c0002t0012g0098 a0001c0002t0012g0145 a0001c0002t0012g0148 a0001c0003t0007g0062 a0001c0003t0007g0063 a0001c0003t0025g0016 a0001c0003t0065g0119 a0001c0003t0074g0141 a0001c0004t0007g0041 a0001c0004t0053g0030 a0001c0004t0077g0091 a0001c0009t0038g0056 a0001c0009t0067g0012	15	148	0.1014	22	c.153 others(41): Show c.1533+1953_1533+1974dupGTGTGTGTGTGTGTGTGTGTGT	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCD_chr3_53156209_53197717	53156244	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01934.hp2 HG02717.hp1 others(2): Show HG01884.hp2 HG01934.hp2 HG02717.hp1 HG02886.hp1 HG02970.hp2	a0001 a0001	a0001c0005 a0001c0007 a0001c0008 a0001c0005 a0001c0007 a0001c0008	a0001c0005t0003 a0001c0007t0002 a0001c0008t0004 a0001c0005t0003 a0001c0007t0002 a0001c0008t0004	a0001c0005t0003g0007 a0001c0007t0002g0193 a0001c0008t0004g0026 others(1): Show a0001c0005t0003g0007 a0001c0007t0002g0193 a0001c0008t0004g0026 a0001c0008t0004g0192	5	322	0.0155	22	c.-53 others(33): Show c.-5316_-5315insTTTTTTTTTTTTTTTTTTTTTT	PRKCD	ENSG00000163932.16	transcript	ENST00000330452.8	protein_coding		4964		chr3	TogoVar
PRKCD_chr3_53156209_53197717	53187630	C C	CACCATCG others(15): Show CACCATCGCCCCACCCATCCTTG	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	322	0.0031	22	c.141 others(39): Show c.1415+229_1415+250dupACCATCGCCCCACCCATCCTTG	PRKCD	ENSG00000163932.16	transcript	ENST00000330452.8	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr3	TogoVar
PRKCE_chr2_45646675_46192990	45751809	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01192.hp2 HG03239.hp1 others(2): Show HG01070.hp1 HG01192.hp2 HG03239.hp1 HG03688.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0003t0001	a0001c0001t0001g0137 a0001c0001t0002g0008 a0001c0001t0003g0051 others(2): Show a0001c0001t0001g0137 a0001c0001t0002g0008 a0001c0001t0003g0051 a0001c0001t0006g0044 a0001c0003t0001g0036	5	168	0.0298	22	c.349 others(41): Show c.349-91186_349-91165dupTTTTTTTTTTTTTTTTTTTTTT	PRKCE	ENSG00000171132.14	transcript	ENST00000306156.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
PRKCE_chr2_45646675_46192990	45958791	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0162 a0001c0001t0002g0162	1	168	0.0060	22	c.413 others(41): Show c.413-17633_413-17612dupATATATATATATATATATATAT	PRKCE	ENSG00000171132.14	transcript	ENST00000306156.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
PRKCE_chr2_45646675_46192990	46123214	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01168.hp1 HG01256.hp1 others(5): Show HG00323.hp2 HG01168.hp1 HG01256.hp1 HG01496.hp1 HG02723.hp2 HG02895.hp1 HG03239.hp2 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0003t0001	a0001c0001t0001g0006 a0001c0001t0001g0128 a0001c0001t0001g0130 others(5): Show a0001c0001t0001g0006 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0002g0088 a0001c0001t0002g0100 a0001c0001t0003g0159 a0001c0001t0005g0047 a0001c0003t0001g0073	8	168	0.0476	22	c.159 others(43): Show c.1593-21871_1593-21850dupTTTTTTTTTTTTTTTTTTTTTT	PRKCE	ENSG00000171132.14	transcript	ENST00000306156.8	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
PRKCG_chr19_53877197_53912652	53881070	C C	CAGAGACA others(15): Show CAGAGACAGAGACAGAGAAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp2 HG03704.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0235 a0001c0001t0001g0211 a0001c0001t0001g0235	2	362	0.0055	22	c.-14 others(33): Show c.-1425_-1424insAGAGACAGAGACAGAGAAGAGA	PRKCG	ENSG00000126583.12	transcript	ENST00000263431.4	protein_coding		1126		chr19	TogoVar
PRKCH_chr14_61316579_61555976	61428076	T T	TAGATAGA others(15): Show TAGATAGATAGATAGATAGATAC	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0001 a0002c0012t0001	a0002c0012t0001g0059 a0002c0012t0001g0059	1	208	0.0048	22	c.428 others(41): Show c.428-15034_428-15033insGATAGATAGATAGATAGATACA	PRKCH	ENSG00000027075.17	transcript	ENST00000332981.11	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
PRKCH_chr14_61316579_61555976	61528151	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01361.hp1 HG01928.hp1 others(2): Show HG01081.hp1 HG01361.hp1 HG01928.hp1 NA18963.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0001 a0001c0001t0002 a0001c0001t0011	a0001c0001t0001g0069 a0001c0001t0001g0104 a0001c0001t0002g0084 others(2): Show a0001c0001t0001g0069 a0001c0001t0001g0104 a0001c0001t0002g0084 a0001c0001t0002g0094 a0001c0001t0011g0042	5	208	0.0240	22	c.143 others(39): Show c.1434-914_1434-893dupCACACACACACACACACACACA	PRKCH	ENSG00000027075.17	transcript	ENST00000332981.11	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
PRKCH_chr14_61316579_61555976	61528973	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03195.hp1 HG03453.hp1 HG02647.hp1 HG03195.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0001 a0001c0002t0002 a0001c0007t0001 a0001c0002t0001 a0001c0002t0002 a0001c0007t0001	a0001c0002t0001g0006 a0001c0002t0002g0037 a0001c0007t0001g0176 a0001c0002t0001g0006 a0001c0002t0002g0037 a0001c0007t0001g0176	3	208	0.0144	22	c.143 others(37): Show c.1434-90_1434-69dupTGTGTGTGTGTGTGTGTGTGTG	PRKCH	ENSG00000027075.17	transcript	ENST00000332981.11	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
PRKCH_chr14_61316579_61555976	61529005	T T	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0090 a0001c0011t0001g0090	1	208	0.0048	22	c.143 others(37): Show c.1434-69_1434-68insTGTGTGTGTGTGTGTGTGCGCG	PRKCH	ENSG00000027075.17	transcript	ENST00000332981.11	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr14	TogoVar

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