Joint Open Genome and Omics Platform (JoGo)

Search Results

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PCCB_chr3_136245340_136335169	136268084	G G	GTGTGTAG others(11): Show GTGTGTAGATATAGATATA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	300	0.0033	18	c.543 others(35): Show c.543+6020_543+6021insGTGTAGATATAGATATAT	PCCB	ENSG00000114054.14	transcript	ENST00000251654.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PCCB_chr3_136245340_136335169	136268087	G G	GATATAGA others(11): Show GATATAGATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02895.hp1 HG01243.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0022 a0001c0001t0001g0024	2	300	0.0067	18	c.543 others(35): Show c.543+6027_543+6028insGATATATATATATATATA	PCCB	ENSG00000114054.14	transcript	ENST00000251654.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PCCB_chr3_136245340_136335169	136268087	G G	GATATATA others(11): Show GATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA19010.hp1 NA18989.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0279 a0001c0001t0001g0253 a0001c0001t0001g0279	2	300	0.0067	18	c.543 others(35): Show c.543+6039_543+6056dupATATATATATATATATAT	PCCB	ENSG00000114054.14	transcript	ENST00000251654.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PCCB_chr3_136245340_136335169	136268090	A A	ATATATAT others(11): Show ATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	300	0.0033	18	c.543 others(35): Show c.543+6042_543+6043insGTATATATATATATATAT	PCCB	ENSG00000114054.14	transcript	ENST00000251654.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PCDH11X_chrX_91774375_92628230	91907410	C C	CCCACACA others(11): Show CCCACACACAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	154	0.0065	18	c.303 others(39): Show c.3033+28137_3033+28138insCCACACACAGAGAGAGAG	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10			chrX	TogoVar
PCDH11X_chrX_91774375_92628230	91907412	C C	CCCACACA others(11): Show CCCACACACAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA19005.hp1 NA18949.hp1 NA19005.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0001 a0001c0001t0001 a0003c0005t0001	a0001c0001t0001g0030 a0003c0005t0001g0025 a0001c0001t0001g0030 a0003c0005t0001g0025	2	154	0.0130	18	c.303 others(39): Show c.3033+28139_3033+28140insCCACACACAGAGAGAGAG	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10			chrX	TogoVar
PCDH11X_chrX_91774375_92628230	91945048	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01074.hp1 HG01256.hp1 others(18): Show HG00738.hp1 HG01074.hp1 HG01256.hp1 HG02083.hp1 HG02300.hp1 HG02735.hp1 HG02738.hp1 HG03239.hp2 HG03453.hp2 HG03490.hp1 HG04199.hp1 NA18943.hp1 NA18944.hp1 NA18970.hp1 NA18971.hp1 NA18982.hp1 NA18989.hp1 NA19060.hp1 NA19066.hp1 NA19085.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0013 a0001c0001t0018 a0001c0002t0002	a0001c0001t0001g0029 a0001c0001t0001g0072 a0001c0001t0001g0098 others(18): Show a0001c0001t0001g0029 a0001c0001t0001g0072 a0001c0001t0001g0098 a0001c0001t0001g0117 a0001c0001t0002g0054 a0001c0001t0002g0091 a0001c0001t0002g0102 a0001c0001t0002g0110 a0001c0001t0002g0133 a0001c0001t0002g0141 a0001c0001t0003g0077 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0132 a0001c0001t0003g0142 a0001c0001t0004g0090 a0001c0001t0004g0134 a0001c0001t0010g0128 a0001c0001t0013g0097 a0001c0001t0018g0087 a0001c0002t0002g0012	21	154	0.1364	18	c.303 others(39): Show c.3033+65778_3033+65795dupATATATATATATATATAT	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92111219	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18968.hp2 NA19066.hp1 NA18959.hp1 NA18968.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0013 a0001c0008t0002 a0001c0001t0001 a0001c0001t0013 a0001c0008t0002	a0001c0001t0001g0108 a0001c0001t0013g0097 a0001c0008t0002g0038 a0001c0001t0001g0108 a0001c0001t0013g0097 a0001c0008t0002g0038	3	154	0.0195	18	c.303 others(39): Show c.3034-90141_3034-90124dupAAAAAAAAAAAAAAAAAA	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92148127	T T	TTCTTCCT others(11): Show TTCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0123 a0001c0001t0003g0123	1	154	0.0065	18	c.303 others(39): Show c.3034-53247_3034-53246insCTTCCTTCCTTCCTTCCT	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92175776	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0023 a0001c0001t0022g0023	1	154	0.0065	18	c.303 others(39): Show c.3034-25598_3034-25597insGTGTGTGTGTGTGTATAT	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92208508	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01515.hp1 HG02015.hp1 others(11): Show HG01358.hp1 HG01515.hp1 HG02015.hp1 HG02809.hp2 HG03453.hp2 HG03579.hp1 HG03942.hp1 HG04115.hp1 HG06807.hp1 NA18522.hp1 NA18945.hp1 NA18977.hp1 NA18995.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0028 a0001c0001t0030 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0071 a0001c0001t0001g0109 a0001c0001t0001g0121 others(11): Show a0001c0001t0001g0071 a0001c0001t0001g0109 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0002g0048 a0001c0001t0002g0085 a0001c0001t0003g0096 a0001c0001t0004g0116 a0001c0001t0004g0146 a0001c0001t0008g0148 a0001c0001t0028g0061 a0001c0001t0030g0070 a0001c0002t0001g0005 a0001c0002t0002g0012	14	154	0.0909	18	c.311 others(37): Show c.3114+7065_3114+7082dupTATATATATATATATATA	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	7/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92208536	T T	TATATATA others(11): Show TATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0056 a0001c0001t0005g0056	1	154	0.0065	18	c.311 others(37): Show c.3114+7082_3114+7083insTATATATATATATATACA	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	7/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92221278	A A	AATACACA others(11): Show AATACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01261.hp1 HG01928.hp1 others(5): Show HG01255.hp1 HG01261.hp1 HG01928.hp1 HG02135.hp1 NA18940.hp1 NA18944.hp1 NA18970.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 a0001c0001t0027	a0001c0001t0001g0135 a0001c0001t0002g0028 a0001c0001t0002g0110 others(5): Show a0001c0001t0001g0135 a0001c0001t0002g0028 a0001c0001t0002g0110 a0001c0001t0003g0094 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0015g0084 a0001c0001t0027g0088	8	154	0.0520	18	c.311 others(39): Show c.3114+19824_3114+19825insTACACACACACACACACA	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	7/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92252374	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03492.hp1 HG03579.hp1 HG03453.hp2 HG03492.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0008 a0001c0002t0002 a0001c0001t0001 a0001c0001t0008 a0001c0002t0002	a0001c0001t0001g0104 a0001c0001t0008g0148 a0001c0002t0002g0012 a0001c0001t0001g0104 a0001c0001t0008g0148 a0001c0002t0002g0012	3	154	0.0195	18	c.311 others(39): Show c.3115-10733_3115-10716dupACACACACACACACACAC	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	7/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92326639	T T	TATATATA others(11): Show TATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	154	0.0065	18	c.314 others(39): Show c.3145-61095_3145-61094insTATATATAGAGAGAGAGA	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	8/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92326639	T T	TATATATA others(11): Show TATATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03654.hp1 NA19012.hp1 NA20300.hp2 others(1): Show HG03654.hp1 NA19012.hp1 NA20300.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0013	a0001c0001t0001g0106 a0001c0001t0003g0080 a0001c0001t0010g0136 others(1): Show a0001c0001t0001g0106 a0001c0001t0003g0080 a0001c0001t0010g0136 a0001c0001t0013g0089	4	154	0.0260	18	c.314 others(39): Show c.3145-61095_3145-61094insTATATATATAGAGAGAGA	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	8/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92326639	T T	TATATATA others(11): Show TATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01496.hp2 HG01928.hp1 others(2): Show HG01261.hp1 HG01496.hp2 HG01928.hp1 HG02698.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0015	a0001c0001t0001g0140 a0001c0001t0002g0130 a0001c0001t0003g0094 others(2): Show a0001c0001t0001g0140 a0001c0001t0002g0130 a0001c0001t0003g0094 a0001c0001t0003g0126 a0001c0001t0015g0084	5	154	0.0325	18	c.314 others(39): Show c.3145-61095_3145-61094insTATATATATATAGAGAGA	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	8/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92326639	T T	TATATATA others(11): Show TATATATATATATATAGAG	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA19088.hp1 HG00609.hp1 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0001 a0002c0006t0009 a0001c0001t0001 a0002c0006t0009	a0001c0001t0001g0026 a0002c0006t0009g0032 a0001c0001t0001g0026 a0002c0006t0009g0032	2	154	0.0130	18	c.314 others(39): Show c.3145-61095_3145-61094insTATATATATATATAGAGA	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	8/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92331279	T T	TTTCTTCT others(11): Show TTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0052 a0001c0001t0012g0052	1	154	0.0065	18	c.314 others(39): Show c.3145-56434_3145-56417dupTTCTTCTTCTTCTTCTTC	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	8/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92355417	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18967.hp1 NA18966.hp1 NA18967.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0001 a0001c0001t0001 a0003c0005t0001	a0001c0001t0001g0066 a0003c0005t0001g0114 a0001c0001t0001g0066 a0003c0005t0001g0114	2	154	0.0130	18	c.314 others(39): Show c.3145-32304_3145-32287dupAAAAAAAAAAAAAAAAAA	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	8/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92375142	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA20805.hp1 HG02145.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0010 a0001c0003t0001 a0001c0001t0010 a0001c0003t0001	a0001c0001t0010g0136 a0001c0003t0001g0145 a0001c0001t0010g0136 a0001c0003t0001g0145	2	154	0.0130	18	c.314 others(39): Show c.3145-12585_3145-12568dupATATATATATATATATAT	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	8/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92375166	A A	ATATATAT others(11): Show ATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA19058.hp1 NA18967.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0066 a0001c0001t0001g0042 a0001c0001t0001g0066	2	154	0.0130	18	c.314 others(39): Show c.3145-12568_3145-12567insATATATATATATATTTTT	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	8/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92452463	G G	GTGTGTAT others(11): Show GTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03453.hp1 HG02615.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0014 a0001c0003t0012 a0001c0001t0014 a0001c0003t0012	a0001c0001t0014g0151 a0001c0003t0012g0144 a0001c0001t0014g0151 a0001c0003t0012g0144	2	154	0.0130	18	c.334 others(39): Show c.3344-15835_3344-15834insGTGTATATATATATATAT	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	9/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92487048	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	1	154	0.0065	18	c.336 others(39): Show c.3367+18731_3367+18748dupTTTTTTTTTTTTTTTTTT	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	10/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92575936	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	154	0.0065	18	c.336 others(39): Show c.3368-42327_3368-42326insCACACACACACACACACA	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	10/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11Y_chrY_4995296_5747224	5129478	C C	CAGAGAGA others(11): Show CAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	115	0.0087	18	c.285 others(39): Show c.2853+28786_2853+28803dupAGAGAGAGAGAGAGAGAG	PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chrY	TogoVar
PCDH11Y_chrY_4995296_5747224	5373126	C C	CCCTCCCT others(11): Show CCCTCCCTCCTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	115	0.0087	18	c.285 others(41): Show c.2854-127930_2854-127929insCTCCCTCCTCTTTCTTTC	PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chrY	TogoVar
PCDH15_chr10_53797771_54806231	53808328	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0027 a0002c0002t0009g0027	1	102	0.0098	18	c.467 others(37): Show c.4672-1199_4672-1198insTATATATATATATATATA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	37/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	53855904	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02922.hp1 NA19043.hp1 HG02109.hp1 HG02922.hp1 NA19043.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0007 a0001c0001 a0007c0007	a0001c0001t0003 a0001c0001t0014 a0007c0007t0003 a0001c0001t0003 a0001c0001t0014 a0007c0007t0003	a0001c0001t0003g0087 a0001c0001t0014g0074 a0007c0007t0003g0065 a0001c0001t0003g0087 a0001c0001t0014g0074 a0007c0007t0003g0065	3	102	0.0294	18	c.380 others(37): Show c.3806+1270_3806+1271insTATATATATATATATATA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	28/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	53888308	A A	ATATATAT others(11): Show ATATATATATATATGTACG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0074 a0001c0001t0014g0074	1	102	0.0098	18	c.350 others(39): Show c.3501+14934_3501+14935insCGTACATATATATATATA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	26/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54121996	G G	GACACAGA others(11): Show GACACAGACACACACACAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG03492.hp1 HG00741.hp2 HG03492.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0024 a0003c0003t0003 a0002c0002t0024 a0003c0003t0003	a0002c0002t0024g0069 a0003c0003t0003g0033 a0002c0002t0024g0069 a0003c0003t0003g0033	2	102	0.0196	18	c.191 others(39): Show c.1917+10878_1917+10879insGTGTGTGTGTGTCTGTGT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	15/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54122002	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG03710.hp2 HG00642.hp1 HG03710.hp2	a0005 a0023 a0005 a0023	a0005c0040 a0023c0041 a0005c0040 a0023c0041	a0005c0040t0001 a0023c0041t0006 a0005c0040t0001 a0023c0041t0006	a0005c0040t0001g0071 a0023c0041t0006g0052 a0005c0040t0001g0071 a0023c0041t0006g0052	2	102	0.0196	18	c.191 others(39): Show c.1917+10855_1917+10872dupGTGTGTGTGTGTGTGTGT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	15/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54205481	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01884.hp1 HG01934.hp1 others(3): Show HG00738.hp2 HG01884.hp1 HG01934.hp1 HG01981.hp2 HG03041.hp1 HG03942.hp1	a0001 a0005 a0008 a0001 a0005 a0008	a0001c0001 a0005c0005 a0008c0032 a0001c0001 a0005c0005 a0008c0032	a0001c0001t0001 a0001c0001t0003 a0005c0005t0009 others(1): Show a0001c0001t0001 a0001c0001t0003 a0005c0005t0009 a0008c0032t0001	a0001c0001t0001g0014 a0001c0001t0001g0043 a0001c0001t0001g0044 others(3): Show a0001c0001t0001g0014 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0003g0010 a0005c0005t0009g0085 a0008c0032t0001g0021	6	102	0.0588	18	c.109 others(37): Show c.1098+8437_1098+8454dupCACACACACACACACACA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	10/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54238677	T T	TCTCTCTC others(11): Show TCTCTCTCACACACACACA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0029 a0029	a0029c0035 a0029c0035	a0029c0035t0005 a0029c0035t0005	a0029c0035t0005g0100 a0029c0035t0005g0100	1	102	0.0098	18	c.877 others(35): Show c.877-1747_877-1746insTGTGTGTGTGTGAGAGAG	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	8/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54296144	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0022 a0022	a0022c0028 a0022c0028	a0022c0028t0004 a0022c0028t0004	a0022c0028t0004g0013 a0022c0028t0004g0013	1	102	0.0098	18	c.876 others(37): Show c.876+21109_876+21126dupTTTTTTTTTTTTTTTTTT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	8/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54325013	C C	CTTTCATA others(11): Show CTTTCATATCTCTAATTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0016 a0002c0002t0005g0016	1	102	0.0098	18	c.705 others(35): Show c.705+4582_705+4583insAAAATTAGAGATATGAAA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	7/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54380643	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01981.hp2 HG02615.hp1 others(2): Show HG01884.hp2 HG01981.hp2 HG02615.hp1 HG02896.hp1 HG03130.hp2	a0001 a0002 a0010 others(1): Show a0001 a0002 a0010 a0032	a0001c0001 a0002c0002 a0010c0009 others(1): Show a0001c0001 a0002c0002 a0010c0009 a0032c0024	a0001c0001t0001 a0002c0002t0005 a0010c0009t0011 others(2): Show a0001c0001t0001 a0002c0002t0005 a0010c0009t0011 a0010c0009t0012 a0032c0024t0001	a0001c0001t0001g0044 a0002c0002t0005g0016 a0010c0009t0011g0078 others(2): Show a0001c0001t0001g0044 a0002c0002t0005g0016 a0010c0009t0011g0078 a0010c0009t0012g0042 a0032c0024t0001g0053	5	102	0.0490	18	c.158 others(35): Show c.158-1719_158-1702dupTATATATATATATATATA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	3/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54421662	G G	GTGTATAT others(11): Show GTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03139.hp2 HG02145.hp1 HG03139.hp2	a0003 a0037 a0003 a0037	a0003c0003 a0037c0018 a0003c0003 a0037c0018	a0003c0003t0009 a0037c0018t0001 a0003c0003t0009 a0037c0018t0001	a0003c0003t0009g0018 a0037c0018t0001g0004 a0003c0003t0009g0018 a0037c0018t0001g0004	2	102	0.0196	18	c.158 others(37): Show c.158-42721_158-42720insTATATATATATATATACA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	3/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54655256	A A	AAGAGAGA others(11): Show AAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02965.hp2 HG03098.hp1 others(1): Show HG02258.hp2 HG02965.hp2 HG03098.hp1 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0004 a0002c0002t0002 a0002c0002t0009 others(1): Show a0001c0001t0004 a0002c0002t0002 a0002c0002t0009 a0003c0003t0001	a0001c0001t0004g0031 a0002c0002t0002g0037 a0002c0002t0009g0027 others(1): Show a0001c0001t0004g0031 a0002c0002t0002g0037 a0002c0002t0009g0027 a0003c0003t0001g0017	4	102	0.0392	18	c.91+ others(33): Show c.91+8898_91+8915dupCTCTCTCTCTCTCTCTCT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	2/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54697680	G G	GGGGAAGG others(11): Show GGGGAAGGGGAAGGGGGAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02280.hp2 HG03471.hp2 HG02109.hp1 HG02280.hp2 HG03471.hp2	a0002 a0005 a0007 a0002 a0005 a0007	a0002c0002 a0005c0005 a0007c0007 a0002c0002 a0005c0005 a0007c0007	a0002c0002t0027 a0005c0005t0004 a0007c0007t0003 a0002c0002t0027 a0005c0005t0004 a0007c0007t0003	a0002c0002t0027g0064 a0005c0005t0004g0076 a0007c0007t0003g0065 a0002c0002t0027g0064 a0005c0005t0004g0076 a0007c0007t0003g0065	3	102	0.0294	18	c.-28 others(37): Show c.-28-33391_-28-33390insTTCCCCCTTCCCCTTCCC	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	1/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54731563	T T	TATATATA others(11): Show TATATATATATATATACAC	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0068 a0008c0010t0001g0068	1	102	0.0098	18	c.-28 others(37): Show c.-28-67274_-28-67273insGTGTATATATATATATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	1/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54731563	T T	TATATATA others(11): Show TATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02258.hp2 HG00735.hp2 HG02258.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0004 a0003c0003t0003 a0001c0001t0004 a0003c0003t0003	a0001c0001t0004g0031 a0003c0003t0003g0092 a0001c0001t0004g0031 a0003c0003t0003g0092	2	102	0.0196	18	c.-28 others(37): Show c.-28-67274_-28-67273insGTATATATATATATATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	1/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54731563	T T	TATATATA others(11): Show TATATATATATATATATGC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0063 a0002c0002t0002g0063	1	102	0.0098	18	c.-28 others(37): Show c.-28-67274_-28-67273insGCATATATATATATATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	1/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54756089	A A	ACACACAC others(11): Show ACACACACACACACACACT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02886.hp2 HG02602.hp2 HG02886.hp2	a0004 a0027 a0004 a0027	a0004c0004 a0027c0031 a0004c0004 a0027c0031	a0004c0004t0001 a0027c0031t0010 a0004c0004t0001 a0027c0031t0010	a0004c0004t0001g0059 a0027c0031t0010g0066 a0004c0004t0001g0059 a0027c0031t0010g0066	2	102	0.0196	18	c.-29 others(37): Show c.-29+44835_-29+44836insAGTGTGTGTGTGTGTGTG	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	1/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54804927	T T	TTATATAT others(11): Show TTATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0098 a0001c0001t0003g0098	1	102	0.0098	18	c.-40 others(29): Show c.-4049_-4032dupTATATATATATATATATA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding		3697		chr10	TogoVar
PCDH15_chr10_53816099_54806231	53855904	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA19043.hp2 HG02922.hp1 NA19043.hp2	a0001 a0010 a0001 a0010	a0001c0007 a0010c0010 a0001c0007 a0010c0010	a0001c0007t0001 a0010c0010t0003 a0001c0007t0001 a0010c0010t0003	a0001c0007t0001g0079 a0010c0010t0003g0068 a0001c0007t0001g0079 a0010c0010t0003g0068	2	94	0.0213	18	c.380 others(37): Show c.3806+1270_3806+1271insTATATATATATATATATA	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	28/32			chr10	TogoVar
PCDH15_chr10_53816099_54806231	53888308	A A	ATATATAT others(11): Show ATATATATATATATGTACG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0003 a0010c0010t0003	a0010c0010t0003g0068 a0010c0010t0003g0068	1	94	0.0106	18	c.350 others(39): Show c.3501+14934_3501+14935insCGTACATATATATATATA	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	26/32			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54121996	G G	GACACAGA others(11): Show GACACAGACACACACACAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG03492.hp1 HG00741.hp2 HG03492.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0063 a0003c0003t0001g0030 a0002c0002t0001g0063 a0003c0003t0001g0030	2	94	0.0213	18	c.191 others(39): Show c.1917+10878_1917+10879insGTGTGTGTGTGTCTGTGT	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	15/32			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54122002	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG03710.hp1 HG00642.hp2 HG03710.hp1	a0005 a0019 a0005 a0019	a0005c0046 a0019c0047 a0005c0046 a0019c0047	a0005c0046t0001 a0019c0047t0001 a0005c0046t0001 a0019c0047t0001	a0005c0046t0001g0065 a0019c0047t0001g0050 a0005c0046t0001g0065 a0019c0047t0001g0050	2	94	0.0213	18	c.191 others(39): Show c.1917+10855_1917+10872dupGTGTGTGTGTGTGTGTGT	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	15/32			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54205481	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01884.hp1 HG01934.hp1 others(3): Show HG00738.hp1 HG01884.hp1 HG01934.hp1 HG01981.hp2 HG03041.hp2 HG03942.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0036 a0001c0001 a0005c0036	a0001c0001t0001 a0005c0036t0001 a0001c0001t0001 a0005c0036t0001	a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0021 others(3): Show a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0040 a0001c0001t0001g0041 a0005c0036t0001g0077	6	94	0.0638	18	c.109 others(37): Show c.1098+8437_1098+8454dupCACACACACACACACACA	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	10/32			chr10	TogoVar