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	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
PCDH11Y_chrY_4995296_5747224	5373126	C C	CCCTTCTT others(20): Show CCCTTCTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0030 a0002c0002t0002g0030	1	9	0.1111	27	c.285 others(50): Show c.2854-127930_2854-127929insCTTCTTCTTTCTTTCTTTCTTT CTTTC		PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	3/5					INFO_REALIGN_3_PRIME	chrY	TogoVar
PCDH15_chr10_53797771_54806231	54804931	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0036 a0036	a0036c0012 a0036c0012	a0036c0012t0001 a0036c0012t0001	a0036c0012t0001g0008 a0036c0012t0001g0008	1	100	0.0100	27	c.-40 others(38): Show c.-4036_-4035insATATATATATATATATATATATATATA		PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding					3701		chr10	TogoVar
PCDH15_chr10_53797771_54806231	54804935	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0094 a0001c0001t0020g0094	1	100	0.0100	27	c.-40 others(38): Show c.-4040_-4039insATATATATATATATATATATATATATA		PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding					3705		chr10	TogoVar
PCDH15_chr10_53816099_54806231	54804931	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0032 a0032	a0032c0012 a0032c0012	a0032c0012t0001 a0032c0012t0001	a0032c0012t0001g0008 a0032c0012t0001g0008	1	92	0.0109	27	c.-40 others(38): Show c.-4036_-4035insATATATATATATATATATATATATATA		PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding					3701		chr10	TogoVar
PCDH15_chr10_53816099_54806231	54804935	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0086 a0001c0007t0001g0086	1	92	0.0109	27	c.-40 others(38): Show c.-4040_-4039insATATATATATATATATATATATATATA		PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding					3705		chr10	TogoVar
PCDH19_chrX_100286644_100415273	100322865	A A	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	180	0.0056	27	c.284 others(48): Show c.2848+19037_2848+19038insAAAAAAATATATATATATATATAT ATA		PCDH19	ENSG00000165194.15	transcript	ENST00000373034.8	protein_coding	5/5						chrX	TogoVar
PCDH1_chr5_141848090_141883410	141850526	T T	TGGGGGGG others(20): Show TGGGGGGGGGGGGTGGGGGTGGGGGTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	170	0.0059	27	c.35 others(38): Show c.3515_*3516insCCACCCCCACCCCCACCCCCCCCCCCC		PCDH1	ENSG00000156453.14	transcript	ENST00000287008.8	protein_coding					2563		chr5	TogoVar
PCDH7_chr4_30715369_31151800	30716893	A A	AAGCAGCA others(20): Show AAGCAGCAGCAGCAGCAGCAGCAGCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 NA18906.hp2 HG02258.hp2 NA18906.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0028 a0001c0005t0001 a0001c0005t0028	a0001c0005t0001g0103 a0001c0005t0028g0105 a0001c0005t0001g0103 a0001c0005t0028g0105	2	130	0.0154	27	c.-45 others(38): Show c.-4530_-4529insAGCAGCAGCAGCAGCAGCAGCAGCAGC		PCDH7	ENSG00000169851.16	transcript	ENST00000695919.1	protein_coding					3475		chr4	TogoVar
PCDH7_chr4_30715369_31151800	31056458	G G	GAAAAAGA others(20): Show GAAAAAGAAAGAAGGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp2 NA18945.hp2 others(1): Show HG00673.hp1 HG00673.hp2 NA18945.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0001t0001 a0001c0001t0004 a0001c0002t0001	a0001c0001t0001g0052 a0001c0001t0004g0062 a0001c0001t0004g0094 others(1): Show a0001c0001t0001g0052 a0001c0001t0004g0062 a0001c0001t0004g0094 a0001c0002t0001g0167	4	127	0.0315	27	c.339 others(48): Show c.3392-86013_3392-86012insAAAGAAAGAAGGAAAGAAAGAAAG AAA		PCDH7	ENSG00000169851.16	transcript	ENST00000695919.1	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCDH7_chr4_30715369_31151800	31097638	A A	ATATATAC others(20): Show ATATATACATATATATATATATATAATC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0153 a0001c0002t0004g0153	1	51	0.0196	27	c.339 others(48): Show c.3392-44835_3392-44834insTATATACATATATATATATATATA ATC		PCDH7	ENSG00000169851.16	transcript	ENST00000695919.1	protein_coding	2/2						chr4	TogoVar
PCDH7_chr4_30715369_31151800	31150365	A A	ATTTTTCT others(20): Show ATTTTTCTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00609.hp2 HG00673.hp1 others(17): Show HG00544.hp2 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG01109.hp2 HG02040.hp2 HG02083.hp1 HG02293.hp1 HG02698.hp1 HG02698.hp2 HG03017.hp2 HG03710.hp2 HG04204.hp1 NA18953.hp2 NA18957.hp1 NA18968.hp1 NA18969.hp2 NA18975.hp1 NA19060.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0012 a0001c0001t0019 others(4): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0019 a0001c0001t0026 a0001c0002t0001 a0001c0002t0004 a0001c0002t0036	a0001c0001t0001g0002 a0001c0001t0001g0051 a0001c0001t0001g0052 others(17): Show a0001c0001t0001g0002 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0070 a0001c0001t0001g0087 a0001c0001t0001g0185 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0204 a0001c0001t0012g0029 a0001c0001t0012g0037 a0001c0001t0019g0055 a0001c0001t0019g0076 a0001c0001t0026g0023 a0001c0002t0001g0134 a0001c0002t0001g0148 a0001c0002t0001g0157 a0001c0002t0001g0167 a0001c0002t0004g0149 a0001c0002t0036g0131	20	105	0.1905	27	c.75 others(38): Show c.7516_*7517insTTTTTCTTTTTTTTTTTTTTTTTTTTT		PCDH7	ENSG00000169851.16	transcript	ENST00000695919.1	protein_coding					3566		chr4	TogoVar
PCDHA10_chr5_140850897_141017347	140937615	T T	TCAAAAAA others(20): Show TCAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA19240.hp2 NA18906.hp2 NA19240.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0026 a0003c0003t0001g0027 a0003c0003t0001g0026 a0003c0003t0001g0027	2	258	0.0078	27	c.238 others(48): Show c.2389-41334_2389-41333insCAAAAAAAAAAAAAAAAAAAAAAA AAA		PCDHA10	ENSG00000250120.8	transcript	ENST00000307360.6	protein_coding	1/3						chr5	TogoVar
PCDHA11_chr5_140863957_141017347	140937615	T T	TCAAAAAA others(20): Show TCAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA19240.hp1 NA18906.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0120 a0001c0001t0001g0121	2	258	0.0078	27	c.239 others(48): Show c.2392-41334_2392-41333insCAAAAAAAAAAAAAAAAAAAAAAA AAA		PCDHA11	ENSG00000249158.7	transcript	ENST00000398640.7	protein_coding	1/3						chr5	TogoVar
PCDHA12_chr5_140870308_141017347	140937615	T T	TCAAAAAA others(20): Show TCAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA19240.hp2 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0110 a0001c0001t0001g0111	2	258	0.0078	27	c.236 others(48): Show c.2368-41334_2368-41333insCAAAAAAAAAAAAAAAAAAAAAAA AAA		PCDHA12	ENSG00000251664.5	transcript	ENST00000398631.3	protein_coding	1/3						chr5	TogoVar
PCDHA13_chr5_140877124_141017347	140937615	T T	TCAAAAAA others(20): Show TCAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA19240.hp1 NA18906.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0119 a0001c0001t0001g0120	2	258	0.0078	27	c.239 others(48): Show c.2395-41334_2395-41333insCAAAAAAAAAAAAAAAAAAAAAAA AAA		PCDHA13	ENSG00000239389.8	transcript	ENST00000289272.3	protein_coding	1/3						chr5	TogoVar
PCDHA1_chr5_140781140_141017347	140937615	T T	TCAAAAAA others(20): Show TCAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA19240.hp1 NA18906.hp1 NA19240.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0093 a0001c0005t0001g0094 a0001c0005t0001g0093 a0001c0005t0001g0094	2	198	0.0101	27	c.239 others(48): Show c.2395-41334_2395-41333insCAAAAAAAAAAAAAAAAAAAAAAA AAA		PCDHA1	ENSG00000204970.10	transcript	ENST00000504120.4	protein_coding	1/3						chr5	TogoVar
PCDHA2_chr5_140789852_141017347	140937615	T T	TCAAAAAA others(20): Show TCAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA19240.hp2 NA18906.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0087 a0001c0001t0001g0088	2	200	0.0100	27	c.238 others(48): Show c.2389-41334_2389-41333insCAAAAAAAAAAAAAAAAAAAAAAA AAA		PCDHA2	ENSG00000204969.7	transcript	ENST00000526136.2	protein_coding	1/3						chr5	TogoVar
PCDHA3_chr5_140796057_141017347	140937615	T T	TCAAAAAA others(20): Show TCAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA19240.hp1 NA18906.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0002 a0001c0001t0001g0003	2	206	0.0097	27	c.239 others(48): Show c.2395-41334_2395-41333insCAAAAAAAAAAAAAAAAAAAAAAA AAA		PCDHA3	ENSG00000255408.4	transcript	ENST00000522353.3	protein_coding	1/3						chr5	TogoVar
PCDHA4_chr5_140802068_141017347	140937615	T T	TCAAAAAA others(20): Show TCAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA19240.hp1 NA18906.hp2 NA19240.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0001 a0003c0003t0001g0002 a0003c0003t0001g0001 a0003c0003t0001g0002	2	210	0.0095	27	c.238 others(48): Show c.2386-41334_2386-41333insCAAAAAAAAAAAAAAAAAAAAAAA AAA		PCDHA4	ENSG00000204967.13	transcript	ENST00000530339.2	protein_coding	1/3						chr5	TogoVar
PCDHA5_chr5_140816613_141017347	140937615	T T	TCAAAAAA others(20): Show TCAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA19240.hp1 NA18906.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0050 a0001c0001t0001g0051	2	218	0.0092	27	c.235 others(48): Show c.2353-41334_2353-41333insCAAAAAAAAAAAAAAAAAAAAAAA AAA		PCDHA5	ENSG00000204965.9	transcript	ENST00000529859.2	protein_coding	1/3						chr5	TogoVar
PCDHA6_chr5_140822960_141017347	140937615	T T	TCAAAAAA others(20): Show TCAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA19240.hp2 NA18906.hp1 NA19240.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0013 a0003c0003t0001g0014 a0003c0003t0001g0013 a0003c0003t0001g0014	2	234	0.0085	27	c.239 others(48): Show c.2395-41334_2395-41333insCAAAAAAAAAAAAAAAAAAAAAAA AAA		PCDHA6	ENSG00000081842.18	transcript	ENST00000529310.6	protein_coding	1/3						chr5	TogoVar
PCDHA7_chr5_140829269_141017347	140937615	T T	TCAAAAAA others(20): Show TCAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA19240.hp2 NA18906.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0015 a0002c0002t0001g0016	2	246	0.0081	27	c.235 others(48): Show c.2356-41334_2356-41333insCAAAAAAAAAAAAAAAAAAAAAAA AAA		PCDHA7	ENSG00000204963.6	transcript	ENST00000525929.2	protein_coding	1/3						chr5	TogoVar
PCDHA8_chr5_140836187_141017347	140937615	T T	TCAAAAAA others(20): Show TCAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA19240.hp1 NA18906.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0027 a0001c0001t0001g0028	2	256	0.0078	27	c.239 others(48): Show c.2395-41334_2395-41333insCAAAAAAAAAAAAAAAAAAAAAAA AAA		PCDHA8	ENSG00000204962.6	transcript	ENST00000531613.2	protein_coding	1/3						chr5	TogoVar
PCDHA9_chr5_140843382_141017347	140937615	T T	TCAAAAAA others(20): Show TCAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA19240.hp2 NA18906.hp1 NA19240.hp2	a0012 a0012	a0012c0012 a0012c0012	a0012c0012t0010 a0012c0012t0010	a0012c0012t0010g0227 a0012c0012t0010g0228 a0012c0012t0010g0227 a0012c0012t0010g0228	2	254	0.0079	27	c.239 others(48): Show c.2395-41334_2395-41333insCAAAAAAAAAAAAAAAAAAAAAAA AAA		PCDHA9	ENSG00000204961.7	transcript	ENST00000532602.2	protein_coding	1/3						chr5	TogoVar
PCDHAC1_chr5_140921299_141017347	140937615	T T	TCAAAAAA others(20): Show TCAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA19240.hp2 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0215 a0001c0003t0001g0216 a0001c0003t0001g0215 a0001c0003t0001g0216	2	278	0.0072	27	c.243 others(46): Show c.2433+8290_2433+8291insCAAAAAAAAAAAAAAAAAAAAAAAAA A		PCDHAC1	ENSG00000248383.5	transcript	ENST00000253807.3	protein_coding	1/3						chr5	TogoVar
PCGF6_chr10_103297796_103356140	103302452	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0022 a0002c0002t0001g0022	1	181	0.0055	27	c.14 others(38): Show c.1452_*1453insAAAAAAAAAAAAAAAAAAAAAAAAAAA		PCGF6	ENSG00000156374.16	transcript	ENST00000369847.4	protein_coding					343		chr10	TogoVar
PCLO_chr7_82749012_83167884	82751473	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG03195.hp1 HG01891.hp1 HG03195.hp1	a0001 a0031 a0001 a0031	a0001c0053 a0031c0051 a0001c0053 a0031c0051	a0001c0053t0003 a0031c0051t0003 a0001c0053t0003 a0031c0051t0003	a0001c0053t0003g0131 a0031c0051t0003g0123 a0001c0053t0003g0131 a0031c0051t0003g0123	2	154	0.0130	27	c.71 others(38): Show c.7101_*7102insCTTTTTTTTTTTTTTTTTTTTTTTTTT		PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding					2538		chr7	TogoVar
PCLO_chr7_82749012_83167884	82999857	T T	TTAAGTAT others(20): Show TTAAGTATAAATATAATATATAATATTA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0014 a0014	a0014c0034 a0014c0034	a0014c0034t0005 a0014c0034t0005	a0014c0034t0005g0059 a0014c0034t0005g0059	1	38	0.0263	27	c.330 others(48): Show c.3301-33371_3301-33370insTAATATTATATATTATATTTATAC TTA		PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24						chr7	TogoVar
PCLO_chr7_82749012_83167884	83057348	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0100 a0001c0007t0001g0100	1	132	0.0076	27	c.330 others(48): Show c.3300+76901_3300+76902insAAATATATATATATATATATATAT ATA		PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24						chr7	TogoVar
PCLO_chr7_82749012_83167884	83078519	C C	CATTATTA others(20): Show CATTATTATTATTATTATTATTATTATT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02615.hp1 HG02809.hp1 others(4): Show HG02258.hp2 HG02615.hp1 HG02809.hp1 HG02886.hp1 HG03195.hp1 NA20300.hp1 NA21309.hp2	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0038	a0001c0003 a0001c0053 a0002c0090 others(2): Show a0001c0003 a0001c0053 a0002c0090 a0007c0006 a0038c0050	a0001c0003t0002 a0001c0003t0008 a0001c0003t0029 others(4): Show a0001c0003t0002 a0001c0003t0008 a0001c0003t0029 a0001c0053t0003 a0002c0090t0036 a0007c0006t0010 a0038c0050t0008	a0001c0003t0002g0110 a0001c0003t0008g0127 a0001c0003t0029g0117 others(4): Show a0001c0003t0002g0110 a0001c0003t0008g0127 a0001c0003t0029g0117 a0001c0053t0003g0131 a0002c0090t0036g0173 a0007c0006t0010g0007 a0038c0050t0008g0073	7	113	0.0619	27	c.330 others(48): Show c.3300+55730_3300+55731insAATAATAATAATAATAATAATAAT AAT		PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24						chr7	TogoVar
PCNP_chr3_101569180_101599465	101595787	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	41	0.0244	27	c.30 others(38): Show c.3034_*3035insTTTTTTTTTTTTTTTTTTTTTTTTTTT		PCNP	ENSG00000081154.12	transcript	ENST00000265260.8	protein_coding					1323		chr3	TogoVar
PCNX1_chr14_70902459_71120382	70910070	T T	TCCCCCTC others(20): Show TCCCCCTCCTCCCCCTCCTCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01255.hp1 HG02698.hp1 others(1): Show HG00673.hp2 HG01255.hp1 HG02698.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0001 a0001c0001t0004 a0001c0016t0004 a0001c0001t0001 a0001c0001t0004 a0001c0016t0004	a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0004g0234 others(1): Show a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0004g0234 a0001c0016t0004g0168	4	342	0.0117	27	c.153 others(44): Show c.153+2069_153+2070insCCCTCCTCCCCCTCCTCCTCCTCCCCC		PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35					INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	70910118	T T	TCCTCCTC others(20): Show TCCTCCTCCTCCTCCCCCTCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01099.hp1 HG01515.hp2 HG01074.hp1 HG01099.hp1 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0004g0225 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0004g0225	3	300	0.0100	27	c.153 others(44): Show c.153+2120_153+2121insTCCTCCTCCCCCTCCTCCTCCCCCTCC		PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35					INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	70910154	C C	CCCTCCCC others(20): Show CCCTCCCCCTCCTCCCCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00741.hp2 HG01175.hp2 HG00280.hp2 HG00741.hp2 HG01175.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0001 a0001c0002t0005g0069 a0001c0002t0005g0001 a0001c0002t0005g0069	3	213	0.0141	27	c.153 others(44): Show c.153+2156_153+2157insCCCTCCTCCCCCTCCTCCTCCTCCTCC		PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35					INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	70910157	T T	TCCTCCTC others(20): Show TCCTCCTCCTCCCCCTCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0257 a0001c0002t0018g0257	1	336	0.0030	27	c.153 others(44): Show c.153+2165_153+2166insCCCTCCCCCTCCTCCCCCTCCTCCTCC		PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35					INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	70910168	C C	CTCCTCCT others(20): Show CTCCTCCTCCTCCTCCTCCTCCTCCTCG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0094 a0001c0002t0005g0094	1	344	0.0029	27	c.153 others(44): Show c.153+2191_153+2192insGTCCTCCTCCTCCTCCTCCTCCTCCTC		PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35					INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	70910169	T T	TCCTCCCC others(20): Show TCCTCCCCCTCCTCCTCCTCCCCCTCCC	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0042 a0001c0001t0017g0042	1	294	0.0034	27	c.153 others(44): Show c.153+2171_153+2172insCCCTCCTCCTCCTCCCCCTCCCCCTCC		PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35					INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	70910174	C C	CTCCTCCT others(20): Show CTCCTCCTCCTCCTCCTCCTCCTCCTCG	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0077 a0001c0002t0005g0077	1	345	0.0029	27	c.153 others(44): Show c.153+2197_153+2198insGTCCTCCTCCTCCTCCTCCTCCTCCTC		PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35					INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	70910175	T T	TCCTTCTC others(20): Show TCCTTCTCCTCCCCCTCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0012 a0012	a0012c0031 a0012c0031	a0012c0031t0075 a0012c0031t0075	a0012c0031t0075g0054 a0012c0031t0075g0054	1	338	0.0030	27	c.153 others(44): Show c.153+2175_153+2176insTCTCCTCCCCCTCCCCCTCCTCCCCCT		PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35					INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	71119428	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00642.hp2 others(10): Show HG00280.hp2 HG00423.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG01099.hp2 HG01175.hp2 HG02155.hp2 HG03654.hp1 HG03831.hp1 NA18994.hp2 NA19003.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0006 a0001c0002 a0001c0004 a0001c0006	a0001c0002t0003 a0001c0002t0005 a0001c0002t0009 others(2): Show a0001c0002t0003 a0001c0002t0005 a0001c0002t0009 a0001c0004t0009 a0001c0006t0062	a0001c0002t0003g0292 a0001c0002t0005g0001 a0001c0002t0005g0056 others(10): Show a0001c0002t0003g0292 a0001c0002t0005g0001 a0001c0002t0005g0056 a0001c0002t0005g0057 a0001c0002t0005g0065 a0001c0002t0005g0068 a0001c0002t0005g0069 a0001c0002t0009g0070 a0001c0002t0009g0078 a0001c0002t0009g0084 a0001c0002t0009g0097 a0001c0004t0009g0104 a0001c0006t0062g0130	13	14	0.9286	27	c.94 others(38): Show c.9493_*9494insTTTTTTTTTTTTTTTTTTTTTTTTTTT		PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding					4047		chr14	TogoVar
PCOLCE_chr7_100597363_100613175	100607090	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	258	0.0039	27	c.941 others(42): Show c.941-346_941-345insAAAAAAAAAAAAAAAAAAAAAAAAAAA		PCOLCE	ENSG00000106333.13	transcript	ENST00000223061.6	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr7	TogoVar
PCSK4_chr19_1476428_1495350	1493709	A A	ACACACAC others(20): Show ACACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	398	0.0025	27	c.-33 others(38): Show c.-3364_-3363insGTGTGTGTGTGTGTGTGTGTGTGTGTG		PCSK4	ENSG00000115257.15	transcript	ENST00000300954.10	protein_coding					3360		chr19	TogoVar
PCSK5_chr9_75885673_76367975	76351447	G G	GAAAGGAA others(20): Show GAAAGGAAAGAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01106.hp2 NA20129.hp1 HG01071.hp1 HG01106.hp2 NA20129.hp1	a0002 a0007 a0014 a0002 a0007 a0014	a0002c0016 a0007c0072 a0014c0087 a0002c0016 a0007c0072 a0014c0087	a0002c0016t0020 a0007c0072t0003 a0014c0087t0040 a0002c0016t0020 a0007c0072t0003 a0014c0087t0040	a0002c0016t0020g0057 a0007c0072t0003g0161 a0014c0087t0040g0098 a0002c0016t0020g0057 a0007c0072t0003g0161 a0014c0087t0040g0098	3	110	0.0273	27	c.506 others(44): Show c.5067+519_5067+520insAAAGGAAAGAAGAAAGAAAGAAAGAAA		PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	36/37						chr9	TogoVar
PCSK6_chr15_101298933_101494707	101311661	C C	CACCCTCA others(20): Show CACCCTCACAGCTCACCCCATCATCACA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0001 a0002c0017t0001	a0002c0017t0001g0031 a0002c0017t0001g0031	1	270	0.0037	27	c.269 others(46): Show c.2699+1714_2699+1715insTGTGATGATGGGGTGAGCTGTGAGGG T		PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21						chr15	TogoVar
PCSK6_chr15_101298933_101494707	101311661	C C	CACCCTCA others(20): Show CACCCTCACAGCTCACCCCATCATTACA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0028 a0002c0008t0002g0028	1	270	0.0037	27	c.269 others(46): Show c.2699+1714_2699+1715insTGTAATGATGGGGTGAGCTGTGAGGG T		PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21						chr15	TogoVar
PCSK6_chr15_101298933_101494707	101311686	C C	CACCCTCA others(20): Show CACCCTCACAGCCCACCCCATCGTCACA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0001 a0005c0014t0001	a0005c0014t0001g0101 a0005c0014t0001g0101	1	253	0.0040	27	c.269 others(46): Show c.2699+1689_2699+1690insTGTGACGATGGGGTGGGCTGTGAGGG T		PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21						chr15	TogoVar
PCSK6_chr15_101298933_101494707	101489563	G G	GGCGCCCC others(20): Show GGCGCCCCCCGCGCCCCCCGCGCCCCCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19088.hp1 NA19088.hp1	a0019 a0019	a0019c0065 a0019c0065	a0019c0065t0004 a0019c0065t0004	a0019c0065t0004g0322 a0019c0065t0004g0322	1	287	0.0035	27	c.81_ others(33): Show c.81_107dupGGGGGGCGCGGGGGGCGCGGGGGGCGC	p.Ala others(38): Show p.Ala36_Gly37insGlyGlyAlaGlyGlyAlaGlyGlyAla	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	1/22	144/4272	107/2910	36/969			chr15	TogoVar
PCYT1A_chr3_196229368_196292726	196249784	T T	TCAGATAC others(20): Show TCAGATACACCATGCCGAGGCTGAGGAC	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19057.hp2 NA19011.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0037 a0001c0001t0001g0038	2	308	0.0065	27	c.218 others(44): Show c.218-1488_218-1462dupGTCCTCAGCCTCGGCATGGTGTATCTG		PCYT1A	ENSG00000161217.12	transcript	ENST00000431016.6	protein_coding	3/8						chr3	TogoVar
PCYT1A_chr3_196229368_196292726	196249799	C C	CGAGGCTG others(20): Show CGAGGCTGAGGACCAGATACACTATGCT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00438.hp1 others(82): Show HG00323.hp1 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00735.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp2 HG01167.hp1 HG01168.hp2 HG01175.hp1 HG01255.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG01934.hp1 HG01978.hp1 HG01981.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02145.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02683.hp1 HG03017.hp1 HG03490.hp2 HG03492.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 NA18939.hp1 NA18945.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18970.hp1 NA18970.hp2 NA18975.hp1 NA18979.hp1 NA18984.hp1 NA18986.hp2 NA18989.hp2 NA18992.hp2 NA18995.hp1 NA18999.hp1 NA19000.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp2 NA19010.hp2 NA19011.hp2 NA19055.hp1 NA19056.hp2 NA19060.hp1 NA19063.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19077.hp1 NA19077.hp2 NA19085.hp1 NA19090.hp2 NA20300.hp2 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0008 a0001c0001t0020 others(11): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0020 a0001c0001t0029 a0001c0001t0033 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0049 a0001c0001t0051 a0001c0001t0052 a0001c0001t0054 a0001c0001t0058 a0001c0003t0005	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0021 others(79): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0008g0055 a0001c0001t0008g0057 a0001c0001t0020g0096 a0001c0001t0020g0097 a0001c0001t0029g0093 a0001c0001t0033g0018 a0001c0001t0038g0075 a0001c0001t0039g0020 a0001c0001t0040g0086 a0001c0001t0049g0088 a0001c0001t0051g0095 a0001c0001t0052g0131 a0001c0001t0054g0068 a0001c0001t0058g0081 a0001c0003t0005g0059	85	264	0.3220	27	c.218 others(44): Show c.218-1503_218-1477dupAGCATAGTGTATCTGGTCCTCAGCCTC		PCYT1A	ENSG00000161217.12	transcript	ENST00000431016.6	protein_coding	3/8						chr3	TogoVar
PCYT1A_chr3_196229368_196292726	196250264	C C	CCAGATAC others(20): Show CCAGATACACCATGCCGAGGCTGAGGAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02895.hp1 HG02897.hp2 others(1): Show HG02257.hp2 HG02895.hp1 HG02897.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0110 a0001c0001t0013g0111 a0001c0001t0013g0112 others(1): Show a0001c0001t0013g0110 a0001c0001t0013g0111 a0001c0001t0013g0112 a0001c0001t0013g0113	4	268	0.0149	27	c.218 others(44): Show c.218-1942_218-1941insATCCTCAGCCTCGGCATGGTGTATCTG		PCYT1A	ENSG00000161217.12	transcript	ENST00000431016.6	protein_coding	3/8						chr3	TogoVar

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