Joint Open Genome and Omics Platform (JoGo)

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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
PCDHGA3_chr5_141338829_141517975	141347160	T T	TTTCTTTC others(19): Show TTTCTTTCTTTCTTTCTTTCTTTCTTC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	270	0.0037	26	c.242 others(43): Show c.2424+724_2424+725insTCTTCTTCTTTCTTTCTTTCTTTCTT	PCDHGA3	ENSG00000254245.3	transcript	ENST00000253812.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA3_chr5_141338829_141517975	141379889	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA19240.hp1 NA18906.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0270 a0001c0001t0001g0022 a0001c0001t0001g0270	2	270	0.0074	26	c.242 others(47): Show c.2424+33437_2424+33462dupTTTTTTTTTTTTTTTTTTTTTTTT TT	PCDHGA3	ENSG00000254245.3	transcript	ENST00000253812.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA4_chr5_141350021_141517975	141379889	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA19240.hp2 NA18906.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0102 a0001c0001t0001g0008 a0001c0001t0001g0102	2	274	0.0073	26	c.251 others(47): Show c.2514+22273_2514+22298dupTTTTTTTTTTTTTTTTTTTTTTTT TT	PCDHGA4	ENSG00000262576.3	transcript	ENST00000571252.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA5_chr5_141359162_141517975	141379889	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA19240.hp1 NA18906.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0097 a0001c0001t0001g0098	2	292	0.0069	26	c.242 others(47): Show c.2421+13143_2421+13168dupTTTTTTTTTTTTTTTTTTTTTTTT TT	PCDHGA5	ENSG00000253485.3	transcript	ENST00000518069.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA6_chr5_141368891_141517975	141379889	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA19240.hp1 NA18906.hp1 NA19240.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0045 a0001c0007t0001g0046 a0001c0007t0001g0045 a0001c0007t0001g0046	2	292	0.0069	26	c.242 others(45): Show c.2424+3387_2424+3412dupTTTTTTTTTTTTTTTTTTTTTTTTTT	PCDHGA6	ENSG00000253731.3	transcript	ENST00000517434.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA7_chr5_141377742_141517975	141379889	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA19240.hp1 NA18906.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0219 a0001c0001t0001g0220	2	292	0.0069	26	c.-30 others(37): Show c.-3011_-3010insTTTTTTTTTTTTTTTTTTTTTTTTTT	PCDHGA7	ENSG00000253537.3	transcript	ENST00000518325.2	protein_coding		2852		chr5	TogoVar
PCDHGB1_chr5_141345099_141517975	141379889	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA19240.hp2 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0162 a0001c0001t0001g0099 a0001c0001t0001g0162	2	278	0.0072	26	c.240 others(47): Show c.2409+27225_2409+27250dupTTTTTTTTTTTTTTTTTTTTTTTT TT	PCDHGB1	ENSG00000254221.3	transcript	ENST00000523390.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB2_chr5_141354994_141517975	141379889	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA19240.hp2 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0088 a0001c0001t0001g0089	2	288	0.0069	26	c.242 others(47): Show c.2421+17338_2421+17363dupTTTTTTTTTTTTTTTTTTTTTTTT TT	PCDHGB2	ENSG00000253910.3	transcript	ENST00000522605.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB3_chr5_141365242_141517975	141379889	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA19240.hp2 NA18906.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0231 a0001c0001t0001g0232	2	296	0.0068	26	c.241 others(45): Show c.2415+7085_2415+7110dupTTTTTTTTTTTTTTTTTTTTTTTTTT	PCDHGB3	ENSG00000262209.3	transcript	ENST00000576222.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCED1B_chr12_47074621_47241660	47089461	C C	CATGTATA others(19): Show CATGTATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0198 a0001c0001t0002g0198	1	322	0.0031	26	c.-60 others(45): Show c.-609+9738_-609+9739insGTATATATATATATATATATATATAT	PCED1B	ENSG00000179715.13	transcript	ENST00000546455.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr12	TogoVar
PCED1B_chr12_47074621_47241660	47217458	A A	AAAAGAAA others(19): Show AAAAGAAAGAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	322	0.0031	26	c.-58 others(41): Show c.-58+778_-58+779insGAAAGAAAGAAAGAAAGAAAGAAAGA	PCED1B	ENSG00000179715.13	transcript	ENST00000546455.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr12	TogoVar
PCGF3_chr4_700832_775089	713231	C C	CTATGTGG others(19): Show CTATGTGGCCTCGTGGGGCTGTTGCCT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0006 a0001c0001t0061g0006	1	366	0.0027	26	c.-19 others(45): Show c.-190+7262_-190+7263insATGTGGCCTCGTGGGGCTGTTGCCTT	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF5_chr10_91215663_91289337	91225230	C C	CATATATG others(19): Show CATATATGTATATATGATATATATCGT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	318	0.0031	26	c.112 others(43): Show c.112+2261_112+2286dupTGATATATATCGTATATATGTATATA	PCGF5	ENSG00000180628.15	transcript	ENST00000336126.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
PCGF5_chr10_91215663_91289337	91238603	T T	TTCTTTCT others(19): Show TTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0191 a0001c0001t0007g0191	1	318	0.0031	26	c.113 others(43): Show c.113-1880_113-1879insCTTTCTTTCTTTCTTTCTTTCTTTCT	PCGF5	ENSG00000180628.15	transcript	ENST00000336126.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
PCLAF_chr15_64359304_64386441	64377488	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0082	1	298	0.0034	26	c.128 others(41): Show c.128-584_128-583insATTTTTTTTTTTTTTTTTTTTTTTTT	PCLAF	ENSG00000166803.14	transcript	ENST00000300035.9	protein_coding	2/3			chr15	TogoVar
PCLAF_chr15_64359304_64386441	64377488	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0064 a0001c0001t0003g0064	1	298	0.0034	26	c.128 others(41): Show c.128-584_128-583insATATATATATATTTTTTTTTTTTTTT	PCLAF	ENSG00000166803.14	transcript	ENST00000300035.9	protein_coding	2/3			chr15	TogoVar
PCLO_chr7_82749012_83167884	82751473	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAAAAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0009 a0009	a0009c0085 a0009c0085	a0009c0085t0022 a0009c0085t0022	a0009c0085t0022g0002 a0009c0085t0022g0002	1	188	0.0053	26	c.71 others(37): Show c.7101_*7102insCTTTTTTTTTTTTTTTTTTTTTTTTT	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding		2538		chr7	TogoVar
PCLO_chr7_82749012_83167884	83038013	A A	ATTTATAT others(19): Show ATTTATATATATATATATTTATATATT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0047 a0047	a0047c0109 a0047c0109	a0047c0109t0012 a0047c0109t0012	a0047c0109t0012g0067 a0047c0109t0012g0067	1	188	0.0053	26	c.330 others(47): Show c.3301-71527_3301-71526insAATATATAAATATATATATATATA AA	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24			chr7	TogoVar
PCLO_chr7_82749012_83167884	83057348	A A	ATATATAT others(19): Show ATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0003 a0001c0018t0003	a0001c0018t0003g0018 a0001c0018t0003g0018	1	188	0.0053	26	c.330 others(47): Show c.3300+76901_3300+76902insAAAATATATATATATATATATATA TA	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24			chr7	TogoVar
PCLO_chr7_82749012_83167884	83059357	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 NA18981.hp1 HG01081.hp1 NA18981.hp1	a0001 a0001	a0001c0004 a0001c0063 a0001c0004 a0001c0063	a0001c0004t0004 a0001c0063t0009 a0001c0004t0004 a0001c0063t0009	a0001c0004t0004g0145 a0001c0063t0009g0031 a0001c0004t0004g0145 a0001c0063t0009g0031	2	188	0.0106	26	c.330 others(47): Show c.3300+74892_3300+74893insATATATATATATATATATATATAT AT	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24			chr7	TogoVar
PCLO_chr7_82749012_83167884	83093472	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02976.hp1 HG03492.hp2 others(1): Show HG00099.hp1 HG02976.hp1 HG03492.hp2 NA20805.hp2	a0011 a0024 a0043 a0011 a0024 a0043	a0011c0098 a0011c0099 a0024c0052 others(1): Show a0011c0098 a0011c0099 a0024c0052 a0043c0026	a0011c0098t0009 a0011c0099t0001 a0024c0052t0001 others(1): Show a0011c0098t0009 a0011c0099t0001 a0024c0052t0001 a0043c0026t0026	a0011c0098t0009g0188 a0011c0099t0001g0187 a0024c0052t0001g0151 others(1): Show a0011c0098t0009g0188 a0011c0099t0001g0187 a0024c0052t0001g0151 a0043c0026t0026g0009	4	188	0.0213	26	c.330 others(47): Show c.3300+40777_3300+40778insTATATATATATATATACACACACA CA	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24			chr7	TogoVar
PCLO_chr7_82749012_83167884	83134242	T T	TATATATA others(19): Show TATATATATATATATATATATATATAA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02738.hp1 NA18981.hp2 NA19010.hp1 others(2): Show HG02738.hp1 NA18981.hp2 NA19010.hp1 NA19057.hp2 NA19085.hp1	a0002 a0022 a0002 a0022	a0002c0020 a0002c0021 a0002c0088 others(1): Show a0002c0020 a0002c0021 a0002c0088 a0022c0091	a0002c0020t0003 a0002c0021t0002 a0002c0088t0035 others(1): Show a0002c0020t0003 a0002c0021t0002 a0002c0088t0035 a0022c0091t0001	a0002c0020t0003g0166 a0002c0020t0003g0167 a0002c0021t0002g0165 others(2): Show a0002c0020t0003g0166 a0002c0020t0003g0167 a0002c0021t0002g0165 a0002c0088t0035g0178 a0022c0091t0001g0159	5	188	0.0266	26	c.330 others(39): Show c.3300+7_3300+8insTTATATATATATATATATATATATAT	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24			chr7	TogoVar
PCNA_chr20_5109953_5124958	5111607	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	390	0.0026	26	c.36 others(37): Show c.3650_*3675dupTTTTTTTTTTTTTTTTTTTTTTTTTT	PCNA	ENSG00000132646.11	transcript	ENST00000379143.10	protein_coding		3345		chr20	TogoVar
PCNP_chr3_101569180_101599465	101586571	T T	TGTGTGTG others(19): Show TGTGTGTGTGTGTGTGTGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02818.hp2 HG03098.hp1 others(1): Show HG02145.hp2 HG02818.hp2 HG03098.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0145 a0002c0002t0001g0022 a0001c0001t0001g0145 a0002c0002t0001g0022	4	424	0.0094	26	c.354 others(43): Show c.354+1061_354+1062insTGTGTGTGTGTGTGTGAGAGAGAGAG	PCNP	ENSG00000081154.12	transcript	ENST00000265260.8	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
PCNX1_chr14_70902459_71120382	70994396	G G	GATAGATA others(19): Show GATAGATAGATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0008 a0008	a0008c0019 a0008c0019	a0008c0019t0034 a0008c0019t0034	a0008c0019t0034g0033 a0008c0019t0034g0033	1	352	0.0028	26	c.244 others(45): Show c.2445-1342_2445-1341insGATAGATATATATATATATATATATA	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	7/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	70994396	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01070.hp2 NA18957.hp2 others(6): Show HG00099.hp1 HG01070.hp2 NA18957.hp2 NA18966.hp2 NA18971.hp1 NA18981.hp2 NA19079.hp2 NA19081.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0001t0056 a0001c0001t0076 a0003c0007t0015	a0001c0001t0001g0169 a0001c0001t0001g0192 a0001c0001t0001g0209 others(6): Show a0001c0001t0001g0169 a0001c0001t0001g0192 a0001c0001t0001g0209 a0001c0001t0004g0188 a0001c0001t0008g0117 a0001c0001t0010g0205 a0001c0001t0056g0246 a0001c0001t0076g0199 a0003c0007t0015g0212	9	352	0.0256	26	c.244 others(45): Show c.2445-1336_2445-1311dupATATATATATATATATATATATATAT	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	7/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	70994427	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0072 a0001c0010t0072	a0001c0010t0072g0350 a0001c0010t0072g0350	1	352	0.0028	26	c.244 others(45): Show c.2445-1311_2445-1310insATATATATATATATATATATATGTAT	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	7/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	71098553	T T	TGTGTGTG others(19): Show TGTGTGTGTGTGTGTGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0022 a0001c0008t0022	a0001c0008t0022g0104 a0001c0008t0022g0104	1	352	0.0028	26	c.559 others(45): Show c.5590-3436_5590-3435insTGTGTGTGTGTGTGAGAGAGAGAGAG	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	30/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	71119426	G G	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0061 a0001c0002t0007g0061	1	352	0.0028	26	c.94 others(37): Show c.9491_*9492insTTTTTTTTTTTTTTTTTTTTTTTTTT	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding		4045		chr14	TogoVar
PCNX1_chr14_70902459_71120382	71119428	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG02056.hp2 others(13): Show HG00438.hp2 HG00558.hp1 HG02056.hp2 HG02165.hp1 HG02273.hp2 HG02523.hp2 NA18955.hp1 NA18961.hp2 NA18967.hp1 NA19000.hp2 NA19007.hp2 NA19057.hp1 NA19070.hp2 NA19079.hp1 NA19082.hp2 NA19083.hp1	a0001 a0009 a0001 a0009	a0001c0002 a0001c0004 a0001c0006 others(1): Show a0001c0002 a0001c0004 a0001c0006 a0009c0015	a0001c0002t0005 a0001c0002t0007 a0001c0002t0009 others(5): Show a0001c0002t0005 a0001c0002t0007 a0001c0002t0009 a0001c0002t0014 a0001c0004t0007 a0001c0004t0009 a0001c0006t0029 a0009c0015t0007	a0001c0002t0005g0071 a0001c0002t0005g0087 a0001c0002t0005g0091 others(13): Show a0001c0002t0005g0071 a0001c0002t0005g0087 a0001c0002t0005g0091 a0001c0002t0007g0102 a0001c0002t0007g0110 a0001c0002t0009g0070 a0001c0002t0009g0073 a0001c0002t0009g0107 a0001c0002t0014g0076 a0001c0002t0014g0092 a0001c0004t0007g0096 a0001c0004t0007g0098 a0001c0004t0009g0086 a0001c0004t0009g0099 a0001c0006t0029g0132 a0009c0015t0007g0094	16	352	0.0455	26	c.94 others(37): Show c.9493_*9494insTTTTTTTTTTTTTTTTTTTTTTTTTT	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding		4047		chr14	TogoVar
PCSK1_chr5_96385333_96438248	96425065	A A	AAAGAAAG others(19): Show AAAGAAAGAAAGAGAAAGAAAGAAGAG	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0352 a0001c0002t0001g0352	1	392	0.0026	26	c.396 others(41): Show c.396+754_396+755insCTCTTCTTTCTTTCTCTTTCTTTCTT	PCSK1	ENSG00000175426.11	transcript	ENST00000311106.8	protein_coding	3/13			chr5	TogoVar
PCSK2_chr20_17222040_17489578	17333910	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(24): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00609.hp2 HG00621.hp1 HG00735.hp1 HG01168.hp1 HG01169.hp1 HG01256.hp2 HG01257.hp1 HG01346.hp1 HG01516.hp2 HG01517.hp1 HG01934.hp1 HG01934.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp2 HG02129.hp2 HG02723.hp1 HG02818.hp2 HG03239.hp1 NA18970.hp1 NA18991.hp2 NA19002.hp2 NA19064.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0024 a0001c0001t0025 a0001c0001t0042 a0001c0001t0058 a0001c0001t0062 a0001c0010t0020	a0001c0001t0001g0046 a0001c0001t0001g0128 a0001c0001t0001g0167 others(24): Show a0001c0001t0001g0046 a0001c0001t0001g0128 a0001c0001t0001g0167 a0001c0001t0001g0175 a0001c0001t0001g0192 a0001c0001t0002g0176 a0001c0001t0002g0232 a0001c0001t0002g0259 a0001c0001t0002g0271 a0001c0001t0003g0215 a0001c0001t0004g0157 a0001c0001t0006g0197 a0001c0001t0007g0013 a0001c0001t0007g0036 a0001c0001t0007g0081 a0001c0001t0007g0115 a0001c0001t0008g0151 a0001c0001t0008g0180 a0001c0001t0009g0185 a0001c0001t0009g0186 a0001c0001t0013g0233 a0001c0001t0024g0179 a0001c0001t0025g0217 a0001c0001t0042g0241 a0001c0001t0058g0074 a0001c0001t0062g0017 a0001c0010t0020g0190	27	274	0.0985	26	c.283 others(45): Show c.283-24416_283-24391dupATATATATATATATATATATATATAT	PCSK2	ENSG00000125851.10	transcript	ENST00000262545.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
PCSK2_chr20_17222040_17489578	17484865	G G	GATAGAAT others(19): Show GATAGAATAGAATTAGAATAGAATAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0180 a0001c0001t0008g0180	1	274	0.0037	26	c.27 others(37): Show c.2795_*2796insATAGAATAGAATTAGAATAGAATAGA	PCSK2	ENSG00000125851.10	transcript	ENST00000262545.7	protein_coding		288		chr20	TogoVar
PCSK4_chr19_1476428_1495350	1493708	G G	GACACACA others(19): Show GACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(79): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00423.hp2 HG00544.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG01081.hp1 HG01109.hp2 HG01175.hp1 HG01257.hp2 HG01496.hp1 HG01891.hp1 HG01943.hp1 HG01975.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02129.hp1 HG02132.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02683.hp2 HG02723.hp1 HG03130.hp1 HG03239.hp2 HG03486.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp2 NA18747.hp1 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18948.hp2 NA18952.hp1 NA18955.hp2 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18980.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18993.hp1 NA19007.hp1 NA19007.hp2 NA19030.hp2 NA19054.hp2 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19067.hp2 NA19070.hp1 NA19075.hp1 NA19077.hp2 NA19078.hp1 NA19085.hp2 NA19086.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0010	a0001c0001 a0001c0005 a0001c0015 others(5): Show a0001c0001 a0001c0005 a0001c0015 a0001c0024 a0002c0004 a0003c0003 a0006c0027 a0010c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0005t0003 a0001c0015t0002 a0001c0024t0002 a0002c0004t0001 a0002c0004t0003 a0003c0003t0003 a0006c0027t0003 a0010c0023t0003	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(33): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0031 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0001g0075 a0001c0001t0001g0096 a0001c0001t0001g0142 a0001c0001t0001g0156 a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0012 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0071 a0001c0001t0005g0016 a0001c0001t0006g0027 a0001c0005t0003g0140 a0001c0015t0002g0118 a0001c0024t0002g0133 a0002c0004t0001g0163 a0002c0004t0003g0024 a0003c0003t0003g0005 a0006c0027t0003g0090 a0010c0023t0003g0079	82	400	0.2050	26	c.-33 others(37): Show c.-3363_-3362insGTGTGTGTGTGTGTGTGTGTGTGTGT	PCSK4	ENSG00000115257.15	transcript	ENST00000300954.10	protein_coding		3359		chr19	TogoVar
PCSK4_chr19_1476428_1495350	1493708	G G	GACACACA others(19): Show GACACACACGCACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	400	0.0025	26	c.-33 others(37): Show c.-3363_-3362insGTGTGTGTGTGTGTGTGCGTGTGTGT	PCSK4	ENSG00000115257.15	transcript	ENST00000300954.10	protein_coding		3359		chr19	TogoVar
PCSK5_chr9_75885673_76367975	76040325	G G	GTCTCTCT others(19): Show GTCTCTCTCTCTCTCTCTCTCTCTGTC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0018 a0018	a0018c0091 a0018c0091	a0018c0091t0003 a0018c0091t0003	a0018c0091t0003g0099 a0018c0091t0003g0099	1	166	0.0060	26	c.632 others(45): Show c.632+13311_632+13312insGTCTCTCTCTCTCTCTCTCTCTCTCT	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	5/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCSK5_chr9_75885673_76367975	76040387	C C	CTGTCTCT others(19): Show CTGTCTCTCTGTCTCTCTGTCTCTCTG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0007 a0006c0012t0007	a0006c0012t0007g0034 a0006c0012t0007g0034	1	166	0.0060	26	c.632 others(45): Show c.632+13351_632+13352insGTCTCTCTGTCTCTCTGTCTCTCTGT	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	5/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCSK5_chr9_75885673_76367975	76040395	C C	CTGTCTCT others(19): Show CTGTCTCTCTGTCTCTCTGTCTCTCTG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0009 a0009	a0009c0018 a0009c0018	a0009c0018t0002 a0009c0018t0002	a0009c0018t0002g0067 a0009c0018t0002g0067	1	166	0.0060	26	c.632 others(45): Show c.632+13359_632+13360insGTCTCTCTGTCTCTCTGTCTCTCTGT	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	5/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCSK6_chr15_101298933_101494707	101311636	T T	TCCCTCAC others(19): Show TCCCTCACAGCCCACCCCATCGTCACA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0008 a0008	a0008c0029 a0008c0029	a0008c0029t0001 a0008c0029t0001	a0008c0029t0001g0332 a0008c0029t0001g0332	1	336	0.0030	26	c.269 others(45): Show c.2699+1739_2699+1740insTGTGACGATGGGGTGGGCTGTGAGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101311636	T T	TCCCTCAC others(19): Show TCCCTCACAGCCCACCGCATCATCACA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02717.hp1 HG01243.hp2 HG02717.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0013 a0001c0001 a0005c0013	a0001c0001t0001 a0005c0013t0001 a0001c0001t0001 a0005c0013t0001	a0001c0001t0001g0200 a0005c0013t0001g0054 a0001c0001t0001g0200 a0005c0013t0001g0054	2	336	0.0060	26	c.269 others(45): Show c.2699+1739_2699+1740insTGTGATGATGCGGTGGGCTGTGAGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101311686	C C	CCCCTCAC others(19): Show CCCCTCACAGCCCACCCCATCATCACA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02486.hp1 HG02886.hp2 others(4): Show HG02280.hp2 HG02486.hp1 HG02886.hp2 HG03098.hp2 HG03942.hp1 HG04228.hp1 NA18906.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0010 a0002c0008 a0002c0015 others(3): Show a0001c0010 a0002c0008 a0002c0015 a0002c0035 a0002c0037 a0004c0073	a0001c0010t0001 a0002c0008t0001 a0002c0015t0001 others(3): Show a0001c0010t0001 a0002c0008t0001 a0002c0015t0001 a0002c0035t0001 a0002c0037t0001 a0004c0073t0001	a0001c0010t0001g0275 a0001c0010t0001g0283 a0002c0008t0001g0021 others(4): Show a0001c0010t0001g0275 a0001c0010t0001g0283 a0002c0008t0001g0021 a0002c0015t0001g0014 a0002c0035t0001g0009 a0002c0037t0001g0029 a0004c0073t0001g0317	7	336	0.0208	26	c.269 others(45): Show c.2699+1689_2699+1690insTGTGATGATGGGGTGGGCTGTGAGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101311686	C C	CCCCTCAC others(19): Show CCCCTCACAGCCCACCCCATCGTCACA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0063 a0001c0003t0001g0063	1	336	0.0030	26	c.269 others(45): Show c.2699+1689_2699+1690insTGTGACGATGGGGTGGGCTGTGAGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101311736	C C	CCCCTCAC others(19): Show CCCCTCACAGCCCACCCCATCATCACA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03130.hp1 HG01109.hp1 HG03130.hp1	a0001 a0009 a0001 a0009	a0001c0007 a0009c0079 a0001c0007 a0009c0079	a0001c0007t0001 a0009c0079t0001 a0001c0007t0001 a0009c0079t0001	a0001c0007t0001g0080 a0009c0079t0001g0329 a0001c0007t0001g0080 a0009c0079t0001g0329	2	336	0.0060	26	c.269 others(45): Show c.2699+1639_2699+1640insTGTGATGATGGGGTGGGCTGTGAGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101311736	C C	CCCCTCAC others(19): Show CCCCTCACAGCCCACCCCATCGTCACA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0018 a0018	a0018c0031 a0018c0031	a0018c0031t0001 a0018c0031t0001	a0018c0031t0001g0001 a0018c0031t0001g0001	1	336	0.0030	26	c.269 others(45): Show c.2699+1639_2699+1640insTGTGACGATGGGGTGGGCTGTGAGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101311761	C C	CCCCTCAC others(19): Show CCCCTCACAGCCCACCCCATCGTCACA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0134 a0001c0004t0001g0134	1	336	0.0030	26	c.269 others(45): Show c.2699+1614_2699+1615insTGTGACGATGGGGTGGGCTGTGAGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101311786	C C	CCCCTCAC others(19): Show CCCCTCACAGCCCACCCCATCATCACA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00621.hp2 HG01975.hp2 others(12): Show HG00558.hp2 HG00621.hp2 HG01975.hp2 HG02165.hp1 HG02717.hp1 NA18939.hp1 NA18941.hp2 NA18950.hp2 NA18967.hp1 NA18969.hp2 NA18971.hp1 NA18986.hp2 NA19088.hp1 NA19091.hp2 NA20300.hp2	a0001 a0003 a0007 others(3): Show a0001 a0003 a0007 a0020 a0021 a0025	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0012 a0003c0024 a0003c0065 a0007c0070 a0020c0071 a0021c0053 a0025c0066	a0001c0001t0001 a0001c0002t0004 a0001c0003t0004 others(8): Show a0001c0001t0001 a0001c0002t0004 a0001c0003t0004 a0001c0005t0004 a0001c0012t0004 a0003c0024t0004 a0003c0065t0004 a0007c0070t0004 a0020c0071t0004 a0021c0053t0004 a0025c0066t0004	a0001c0001t0001g0200 a0001c0002t0004g0179 a0001c0002t0004g0232 others(12): Show a0001c0001t0001g0200 a0001c0002t0004g0179 a0001c0002t0004g0232 a0001c0003t0004g0043 a0001c0003t0004g0085 a0001c0003t0004g0127 a0001c0005t0004g0199 a0001c0005t0004g0212 a0001c0012t0004g0128 a0003c0024t0004g0301 a0003c0065t0004g0303 a0007c0070t0004g0312 a0020c0071t0004g0315 a0021c0053t0004g0221 a0025c0066t0004g0308	15	336	0.0446	26	c.269 others(45): Show c.2699+1589_2699+1590insTGTGATGATGGGGTGGGCTGTGAGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101311861	C C	CCCCTCAC others(19): Show CCCCTCACAGCCCACCCCATCATCACA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0001 a0005c0013t0001	a0005c0013t0001g0054 a0005c0013t0001g0054	1	336	0.0030	26	c.269 others(45): Show c.2699+1514_2699+1515insTGTGATGATGGGGTGGGCTGTGAGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101312114	C C	CCCCTCAC others(19): Show CCCCTCACAGCCCACCCCATCGTCACA	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18942.hp1 NA18952.hp1 others(1): Show NA18941.hp1 NA18942.hp1 NA18952.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0180 a0001c0001t0001g0210 a0001c0005t0001g0187 others(1): Show a0001c0001t0001g0180 a0001c0001t0001g0210 a0001c0005t0001g0187 a0001c0005t0001g0262	4	336	0.0119	26	c.269 others(45): Show c.2699+1261_2699+1262insTGTGACGATGGGGTGGGCTGTGAGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101312114	C C	CCCCTCAC others(19): Show CCCCTCACAGCTCACCCCATCATCACA	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0007 a0007	a0007c0070 a0007c0070	a0007c0070t0004 a0007c0070t0004	a0007c0070t0004g0312 a0007c0070t0004g0312	1	336	0.0030	26	c.269 others(45): Show c.2699+1261_2699+1262insTGTGATGATGGGGTGAGCTGTGAGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101412691	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02280.hp1 HG03471.hp2 HG01358.hp1 HG02280.hp1 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0001c0007 a0002c0008 a0001c0004 a0001c0007 a0002c0008	a0001c0004t0007 a0001c0007t0001 a0002c0008t0001 a0001c0004t0007 a0001c0007t0001 a0002c0008t0001	a0001c0004t0007g0136 a0001c0007t0001g0107 a0002c0008t0001g0027 a0001c0004t0007g0136 a0001c0007t0001g0107 a0002c0008t0001g0027	3	336	0.0089	26	c.824 others(45): Show c.824-14116_824-14115insTATATATATATATATATATATATATA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	6/21			chr15	TogoVar

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