Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PAX3_chr2_222194887_222303998	222265646	A A	AGAAGGAA others(21): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02602.hp1 HG02602.hp2 others(16): Show HG00735.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp2 HG02717.hp2 HG02809.hp2 HG03098.hp1 HG03239.hp2 HG03471.hp2 NA18942.hp2 NA18948.hp1 NA18965.hp1 NA18978.hp1 NA18979.hp2 NA18994.hp1 NA19004.hp2 NA19030.hp2 NA19058.hp2 NA19078.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0002t0001 a0001c0003t0002 a0001c0006t0001 a0003c0005t0002	a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0035 others(16): Show a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0035 a0001c0001t0001g0322 a0001c0001t0002g0048 a0001c0001t0002g0128 a0001c0001t0003g0010 a0001c0001t0003g0018 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0039 a0001c0001t0003g0046 a0001c0001t0003g0051 a0001c0001t0007g0211 a0001c0002t0001g0067 a0001c0002t0001g0074 a0001c0003t0002g0321 a0001c0006t0001g0145 a0003c0005t0002g0305	19	328	0.0579	28	c.586 others(47): Show c.586+28493_586+28520dupCTTCCTTCCTTCCTTCCTTCCTTCCT TC	PAX3	ENSG00000135903.20	transcript	ENST00000392070.7	protein_coding	4/8			chr2	TogoVar
PAX3_chr2_222194887_222303998	222265688	A A	AAGAAAGG others(21): Show AAGAAAGGAAGGAAGGAAGGAAGGGAGAG	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0148	1	328	0.0031	28	c.586 others(47): Show c.586+28478_586+28479insCTCTCCCTTCCTTCCTTCCTTCCTTT CT	PAX3	ENSG00000135903.20	transcript	ENST00000392070.7	protein_coding	4/8			chr2	TogoVar
PAX3_chr2_222194887_222303998	222265691	G G	GAAGGAAG others(21): Show GAAGGAAGGAAGGAAGGAAGGGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG01109.hp1 others(10): Show HG00099.hp1 HG00408.hp2 HG01109.hp1 HG01175.hp2 HG01358.hp1 HG02055.hp1 HG02109.hp1 HG02735.hp2 HG03834.hp2 HG04204.hp2 HG06807.hp1 NA18941.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0003t0005 a0001c0003t0006	a0001c0001t0001g0098 a0001c0001t0001g0119 a0001c0001t0001g0212 others(10): Show a0001c0001t0001g0098 a0001c0001t0001g0119 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0002g0100 a0001c0001t0002g0120 a0001c0001t0002g0127 a0001c0001t0002g0263 a0001c0001t0003g0197 a0001c0001t0009g0089 a0001c0003t0005g0325 a0001c0003t0005g0327 a0001c0003t0006g0320	13	328	0.0396	28	c.586 others(47): Show c.586+28475_586+28476insTCTCTCTCCCTTCCTTCCTTCCTTCC TT	PAX3	ENSG00000135903.20	transcript	ENST00000392070.7	protein_coding	4/8			chr2	TogoVar
PAX5_chr9_36828269_37039268	36848350	C C	CCACACAC others(21): Show CCACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0041 a0001c0002t0023g0041	1	274	0.0037	28	c.101 others(47): Show c.1013-1449_1013-1422dupTGTGTGTGTGTGTGTGTGTGTGTGTG TG	PAX5	ENSG00000196092.14	transcript	ENST00000358127.9	protein_coding	8/9			chr9	TogoVar
PAX6_chr11_31784026_31816322	31814990	G G	GTCTCTCT others(21): Show GTCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG02976.hp2 HG03486.hp1 others(2): Show HG01192.hp2 HG02976.hp2 HG03486.hp1 NA18971.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0028 a0001c0001t0001g0073 a0001c0001t0001g0095 others(2): Show a0001c0001t0001g0028 a0001c0001t0001g0073 a0001c0001t0001g0095 a0001c0001t0002g0103 a0001c0001t0003g0018	5	376	0.0133	28	c.-42 others(39): Show c.-4220_-4193dupGAGAGAGAGAGAGAGAGAGAGAGAGAGA	PAX6	ENSG00000007372.25	transcript	ENST00000640368.2	protein_coding		3669		chr11	TogoVar
PAX7_chr1_18625846_18753866	18635511	T T	TAGGAAGG others(21): Show TAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00642.hp1 HG00642.hp2 others(41): Show HG00544.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00741.hp1 HG01243.hp1 HG01358.hp2 HG01361.hp1 HG01891.hp1 HG01978.hp2 HG02027.hp2 HG02074.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02717.hp1 HG02723.hp2 HG02818.hp2 HG03098.hp1 HG03130.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03710.hp1 NA18952.hp2 NA18970.hp1 NA18977.hp2 NA18979.hp2 NA18995.hp1 NA18998.hp2 NA19060.hp1 NA19068.hp1 NA19088.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0012 a0001c0014 a0001c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0016 a0001c0001t0019 a0001c0001t0026 a0001c0001t0040 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0009 a0001c0002t0011 a0001c0002t0018 a0001c0002t0030 a0001c0002t0047 a0001c0002t0050 a0001c0003t0005 a0001c0012t0005 a0001c0014t0021 a0001c0018t0003	a0001c0001t0001g0018 a0001c0001t0001g0096 a0001c0001t0001g0112 others(41): Show a0001c0001t0001g0018 a0001c0001t0001g0096 a0001c0001t0001g0112 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0002g0017 a0001c0001t0002g0262 a0001c0001t0003g0113 a0001c0001t0003g0281 a0001c0001t0004g0106 a0001c0001t0004g0107 a0001c0001t0008g0002 a0001c0001t0008g0003 a0001c0001t0008g0015 a0001c0001t0008g0021 a0001c0001t0009g0286 a0001c0001t0010g0095 a0001c0001t0010g0111 a0001c0001t0012g0108 a0001c0001t0016g0094 a0001c0001t0016g0110 a0001c0001t0019g0023 a0001c0001t0026g0288 a0001c0001t0040g0040 a0001c0002t0002g0039 a0001c0002t0003g0105 a0001c0002t0003g0114 a0001c0002t0004g0037 a0001c0002t0004g0048 a0001c0002t0005g0022 a0001c0002t0005g0032 a0001c0002t0009g0287 a0001c0002t0011g0298 a0001c0002t0018g0016 a0001c0002t0018g0019 a0001c0002t0030g0024 a0001c0002t0047g0135 a0001c0002t0050g0038 a0001c0003t0005g0020 a0001c0012t0005g0001 a0001c0014t0021g0109 a0001c0018t0003g0049	44	302	0.1457	28	c.451 others(43): Show c.451+288_451+289insGGAAGGAAGGAAGGAAGGAAGGAAGGAA	PAX7	ENSG00000009709.12	transcript	ENST00000420770.7	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAX9_chr14_36656860_36684362	36672852	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0298 a0002c0002t0008g0298	1	446	0.0022	28	c.772 others(45): Show c.772-3343_772-3316dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PAX9	ENSG00000198807.13	transcript	ENST00000361487.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr14	TogoVar
PBK_chr8_27804624_27842817	27816343	C C	CTATATAT others(21): Show CTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02647.hp1 HG02622.hp1 HG02647.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0059 a0002c0002t0002g0092 a0002c0002t0002g0059 a0002c0002t0002g0092	2	392	0.0051	28	c.595 others(45): Show c.595+4221_595+4222insTATATATATATATATATATATATATATA	PBK	ENSG00000168078.10	transcript	ENST00000301905.9	protein_coding	6/7			chr8	TogoVar
PBRM1_chr3_52540367_52690913	52542619	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG02074.hp2 HG01123.hp1 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0017 a0001c0001t0002g0005 a0001c0001t0002g0017	2	300	0.0067	28	c.54 others(39): Show c.5443_*5444insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PBRM1	ENSG00000163939.19	transcript	ENST00000707071.1	protein_coding		2747		chr3	TogoVar
PBRM1_chr3_52540367_52690913	52636757	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01928.hp1 NA18982.hp2 HG01928.hp1 NA18982.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0180 a0001c0002t0001g0245 a0001c0002t0001g0180 a0001c0002t0001g0245	2	300	0.0067	28	c.108 others(47): Show c.1088-1970_1088-1943dupTTTTTTTTTTTTTTTTTTTTTTTTTT TT	PBRM1	ENSG00000163939.19	transcript	ENST00000707071.1	protein_coding	11/31			chr3	TogoVar
PBX1_chr1_164554184_164856831	164739760	T T	TGTGTGTG others(21): Show TGTGTGTGTGTGTGTGTGGTTGTGCATGC	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	184	0.0054	28	c.266 others(47): Show c.266-52717_266-52716insGTTGTGCATGCGTGTGTGTGTGTGTG TG	PBX1	ENSG00000185630.20	transcript	ENST00000420696.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PBX1_chr1_164554184_164856831	164845327	C C	CGGACATT others(21): Show CGGACATTTCTAGCACCTATCAAGTGCCA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02004.hp1 HG02015.hp1 others(9): Show HG00140.hp1 HG02004.hp1 HG02015.hp1 HG02615.hp1 HG02630.hp2 NA18944.hp2 NA18957.hp1 NA18968.hp1 NA18980.hp1 NA18984.hp2 NA19000.hp1 NA19002.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0003 a0001c0001t0031 a0001c0001t0036 others(2): Show a0001c0001t0003 a0001c0001t0031 a0001c0001t0036 a0001c0003t0003 a0002c0002t0003	a0001c0001t0003g0119 a0001c0001t0003g0164 a0001c0001t0031g0084 others(9): Show a0001c0001t0003g0119 a0001c0001t0003g0164 a0001c0001t0031g0084 a0001c0001t0036g0052 a0001c0003t0003g0033 a0002c0002t0003g0043 a0002c0002t0003g0068 a0002c0002t0003g0102 a0002c0002t0003g0125 a0002c0002t0003g0129 a0002c0002t0003g0131 a0002c0002t0003g0169	12	184	0.0652	28	c.120 others(47): Show c.1201-1255_1201-1254insACATTTCTAGCACCTATCAAGTGCCA GG	PBX1	ENSG00000185630.20	transcript	ENST00000420696.7	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PBX3_chr9_125742373_125972377	125793362	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02886.hp1 HG02109.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0011 a0001c0001t0005 a0001c0001t0011	a0001c0001t0005g0286 a0001c0001t0011g0285 a0001c0001t0005g0286 a0001c0001t0011g0285	2	294	0.0068	28	c.274 others(47): Show c.274+44740_274+44741insTATATATATATATATATATATATATA TA	PBX3	ENSG00000167081.18	transcript	ENST00000373489.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
PBX3_chr9_125742373_125972377	125793366	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	294	0.0034	28	c.274 others(47): Show c.274+44769_274+44770insATATATATATATATATATATATATAT AT	PBX3	ENSG00000167081.18	transcript	ENST00000373489.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
PBX3_chr9_125742373_125972377	125804913	C C	CTGAGATC others(21): Show CTGAGATCATGCCTGAGATCAGGCTGAGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(113): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00597.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01109.hp1 HG01168.hp1 HG01192.hp2 HG01243.hp2 HG01258.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG01517.hp1 HG01891.hp1 HG01943.hp2 HG01952.hp2 HG01981.hp1 HG01993.hp1 HG02040.hp2 HG02055.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02165.hp1 HG02486.hp1 HG02559.hp1 HG02602.hp1 HG02615.hp2 HG02717.hp1 HG02738.hp1 HG02809.hp2 HG02886.hp2 HG02897.hp2 HG03098.hp2 HG03209.hp2 HG03239.hp2 HG03471.hp2 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03834.hp2 HG04199.hp2 HG04228.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp2 NA18942.hp1 NA18943.hp1 NA18945.hp1 NA18947.hp1 NA18952.hp2 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp2 NA18967.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp2 NA18985.hp1 NA18988.hp1 NA18989.hp2 NA18991.hp1 NA18993.hp1 NA18994.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19007.hp1 NA19011.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19066.hp2 NA19068.hp1 NA19079.hp2 NA19080.hp2 NA19085.hp1 NA19090.hp1 NA19091.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0007 a0004c0005 a0001c0001 a0001c0007 a0004c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0015 a0001c0001t0017 a0001c0007t0002 a0004c0005t0002	a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 others(113): Show a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0003g0002 a0001c0001t0003g0026 a0001c0001t0003g0030 a0001c0001t0003g0055 a0001c0001t0003g0061 a0001c0001t0003g0063 a0001c0001t0003g0070 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0108 a0001c0001t0003g0110 a0001c0001t0003g0117 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0129 a0001c0001t0005g0029 a0001c0001t0005g0056 a0001c0001t0007g0090 a0001c0001t0007g0096 a0001c0001t0007g0097 a0001c0001t0007g0098 a0001c0001t0007g0099 a0001c0001t0007g0130 a0001c0001t0008g0035 a0001c0001t0008g0043 a0001c0001t0008g0054 a0001c0001t0008g0089 a0001c0001t0008g0109 a0001c0001t0008g0116 a0001c0001t0015g0052 a0001c0001t0017g0111 a0001c0007t0002g0053 a0004c0005t0002g0037	116	294	0.3946	28	c.274 others(47): Show c.274+56291_274+56292insGAGATCATGCCTGAGATCAGGCTGAG AT	PBX3	ENSG00000167081.18	transcript	ENST00000373489.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCBP3_chr21_45638725_45947450	45667075	G G	GTTCTTTC others(21): Show GTTCTTTCTTTCTTTCTTTCTTTCCTTCT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG01981.hp2 others(17): Show HG00438.hp1 HG00558.hp1 HG01981.hp2 HG03540.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG04204.hp2 NA18941.hp2 NA18946.hp2 NA18959.hp1 NA18969.hp1 NA18983.hp2 NA19002.hp1 NA19012.hp2 NA19056.hp1 NA19065.hp2 NA19066.hp2 NA19087.hp2 NA20905.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0003c0006 a0007c0009 a0001c0001 a0003c0006 a0007c0009	a0001c0001t0002 a0001c0001t0005 a0001c0001t0018 others(3): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0018 a0001c0001t0024 a0003c0006t0002 a0007c0009t0002	a0001c0001t0002g0223 a0001c0001t0002g0228 a0001c0001t0002g0229 others(17): Show a0001c0001t0002g0223 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0232 a0001c0001t0002g0235 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0268 a0001c0001t0002g0271 a0001c0001t0002g0278 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0005g0280 a0001c0001t0005g0286 a0001c0001t0018g0266 a0001c0001t0024g0236 a0003c0006t0002g0272 a0007c0009t0002g0277	20	292	0.0685	28	c.-27 others(47): Show c.-278-1776_-278-1775insCTTCTTTCTTTCTTTCTTTCTTTCTT TC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45909826	C C	CCCACCCA others(21): Show CCCACCCACTGCCCAGATACGGACCCCCT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00642.hp1 HG00738.hp2 others(19): Show HG00544.hp2 HG00642.hp1 HG00738.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01123.hp1 HG01123.hp2 HG01192.hp1 HG01243.hp2 HG01358.hp1 HG01515.hp1 HG01517.hp2 HG01943.hp2 HG02004.hp1 HG02602.hp2 HG02698.hp2 HG02735.hp1 HG02965.hp2 HG03195.hp2 NA18963.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0012 a0001c0001t0013 others(6): Show a0001c0001t0003 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0022 a0001c0002t0004 a0001c0002t0006 a0001c0002t0025	a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0118 others(19): Show a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0118 a0001c0001t0012g0045 a0001c0001t0012g0046 a0001c0001t0013g0182 a0001c0001t0016g0027 a0001c0001t0017g0097 a0001c0001t0022g0216 a0001c0002t0004g0016 a0001c0002t0004g0017 a0001c0002t0004g0018 a0001c0002t0004g0020 a0001c0002t0004g0021 a0001c0002t0004g0022 a0001c0002t0004g0023 a0001c0002t0006g0005 a0001c0002t0006g0006 a0001c0002t0006g0026 a0001c0002t0006g0033 a0001c0002t0006g0047 a0001c0002t0025g0031	22	292	0.0753	28	c.471 others(43): Show c.471+364_471+365insCCCTCCACCCACTGCCCAGATACGGACC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45909828	C C	CACCCACT others(21): Show CACCCACTGCCCAGATACGGACCCCCTCT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02976.hp1 HG02055.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0263 a0001c0001t0004g0002 a0001c0001t0003g0263 a0001c0001t0004g0002	2	292	0.0069	28	c.471 others(43): Show c.471+364_471+365insCCCTCTACCCACTGCCCAGATACGGACC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45909908	C C	CCCACCCA others(21): Show CCCACCCACTGCCCAGATACGGACCCCCT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG03239.hp1 HG01167.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0183 a0001c0001t0001g0178 a0001c0001t0001g0183	2	292	0.0069	28	c.471 others(43): Show c.471+440_471+441insCGGACCCCCTCCACCCACTGCCCAGATA	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45909952	A A	ATACGGAC others(21): Show ATACGGACCCCCCCAACCCACTTCCCAGG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0285 a0001c0002t0009g0285	1	292	0.0034	28	c.471 others(43): Show c.471+480_471+481insACCCACTTCCCAGGTACGGACCCCCCCA	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45910052	A A	ACCCACTT others(21): Show ACCCACTTCCCAGATATGGACCTGGCCAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp2 HG02257.hp1 others(10): Show HG02055.hp1 HG02145.hp2 HG02257.hp1 HG02717.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG03041.hp1 HG03195.hp1 HG03486.hp2 NA19043.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0023 a0001c0001t0003 a0001c0001t0023	a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0056 others(10): Show a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0056 a0001c0001t0003g0090 a0001c0001t0003g0094 a0001c0001t0003g0098 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0108 a0001c0001t0003g0112 a0001c0001t0003g0119 a0001c0001t0023g0111	13	292	0.0445	28	c.471 others(43): Show c.471+568_471+569insCACTTCCCAGATATGGACCTGGCCACCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45910079	A A	ACCCACTT others(21): Show ACCCACTTCCCAGATATGGACCTGGCCAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp2 HG00544.hp1 others(112): Show HG00323.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01192.hp2 HG01255.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01981.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02602.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG03710.hp1 HG03927.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp1 NA18522.hp1 NA18747.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18946.hp1 NA18951.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18962.hp2 NA18963.hp1 NA18970.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp2 NA18998.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19012.hp1 NA19056.hp2 NA19064.hp1 NA19068.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19087.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20905.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0008	a0001c0001 a0002c0011 a0004c0008 others(2): Show a0001c0001 a0002c0011 a0004c0008 a0005c0005 a0008c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0019 a0001c0001t0024 a0002c0011t0001 a0004c0008t0001 a0005c0005t0001 a0008c0007t0001	a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 others(112): Show a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0002g0001 a0001c0001t0002g0057 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0089 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0226 a0001c0001t0002g0231 a0001c0001t0002g0249 a0001c0001t0002g0255 a0001c0001t0003g0036 a0001c0001t0003g0044 a0001c0001t0003g0051 a0001c0001t0003g0059 a0001c0001t0003g0061 a0001c0001t0003g0079 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0219 a0001c0001t0003g0221 a0001c0001t0003g0230 a0001c0001t0003g0263 a0001c0001t0004g0004 a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0004g0210 a0001c0001t0004g0211 a0001c0001t0004g0212 a0001c0001t0004g0213 a0001c0001t0004g0214 a0001c0001t0008g0024 a0001c0001t0008g0025 a0001c0001t0010g0195 a0001c0001t0010g0196 a0001c0001t0010g0197 a0001c0001t0011g0281 a0001c0001t0011g0282 a0001c0001t0013g0180 a0001c0001t0019g0224 a0001c0001t0024g0236 a0002c0011t0001g0174 a0004c0008t0001g0187 a0005c0005t0001g0131 a0008c0007t0001g0137	115	292	0.3938	28	c.471 others(43): Show c.471+595_471+596insCACTTCCCAGATATGGACCTGGCCACCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45921166	T T	TGGTATTT others(21): Show TGGTATTTAGTAGAAATTTTTAAAGCATC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00642.hp1 HG00738.hp2 others(16): Show HG00544.hp2 HG00642.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01123.hp2 HG01192.hp1 HG01243.hp2 HG01358.hp1 HG01515.hp1 HG01517.hp2 HG01943.hp2 HG02004.hp1 HG02602.hp2 HG02698.hp2 HG03195.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0001t0016 a0001c0001t0017 others(3): Show a0001c0001t0012 a0001c0001t0016 a0001c0001t0017 a0001c0002t0004 a0001c0002t0006 a0001c0002t0025	a0001c0001t0012g0045 a0001c0001t0012g0046 a0001c0001t0016g0027 others(16): Show a0001c0001t0012g0045 a0001c0001t0012g0046 a0001c0001t0016g0027 a0001c0001t0017g0097 a0001c0002t0004g0015 a0001c0002t0004g0016 a0001c0002t0004g0017 a0001c0002t0004g0018 a0001c0002t0004g0019 a0001c0002t0004g0020 a0001c0002t0004g0021 a0001c0002t0004g0022 a0001c0002t0004g0023 a0001c0002t0006g0005 a0001c0002t0006g0006 a0001c0002t0006g0026 a0001c0002t0006g0033 a0001c0002t0006g0047 a0001c0002t0025g0031	19	292	0.0651	28	c.717 others(45): Show c.717+3563_717+3590dupATCGGTATTTAGTAGAAATTTTTAAAGC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCCA_chr13_100084093_100535435	100341957	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0062 a0001c0001t0003g0062	1	174	0.0058	28	c.164 others(47): Show c.1643+1723_1643+1724insATATATATATATATATATATATATAT AT	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	18/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCB_chr3_136245340_136335169	136264440	G G	GTGTATAT others(21): Show GTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	300	0.0033	28	c.543 others(45): Show c.543+2376_543+2377insGTATATATATATATATATATATATATAT	PCCB	ENSG00000114054.14	transcript	ENST00000251654.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PCCB_chr3_136245340_136335169	136268098	A A	ATGTATAT others(21): Show ATGTATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	300	0.0033	28	c.543 others(45): Show c.543+6034_543+6035insGTATATATATATATATATATATATATGT	PCCB	ENSG00000114054.14	transcript	ENST00000251654.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PCDH11X_chrX_91774375_92628230	91945048	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02027.hp1 HG02015.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0121 a0001c0001t0001g0034 a0001c0001t0001g0121	2	154	0.0130	28	c.303 others(49): Show c.3033+65795_3033+65796insATATATATATATATATATATATAT ATAT	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92147810	C C	CCTTTCTT others(21): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG02055.hp1 others(3): Show HG01256.hp1 HG01258.hp1 HG02055.hp1 NA18986.hp1 NA18994.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0029	a0001c0001t0001g0026 a0001c0001t0001g0099 a0001c0001t0002g0083 others(3): Show a0001c0001t0001g0026 a0001c0001t0001g0099 a0001c0001t0002g0083 a0001c0001t0002g0091 a0001c0001t0003g0092 a0001c0001t0029g0024	6	154	0.0390	28	c.303 others(49): Show c.3034-53548_3034-53521dupCTTTCTTTCTTTCTTTCTTTCTTT CTTT	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92148173	C C	CTTCCTTC others(21): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA19000.hp1 NA18612.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0127 a0001c0001t0002g0067 a0001c0001t0001g0127 a0001c0001t0002g0067	2	154	0.0130	28	c.303 others(49): Show c.3034-53199_3034-53198insCTTCCTTCCTTCCTTCCTTCCTTC TTTC	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92148173	C C	CTTCCTTC others(21): Show CTTCCTTCCTTCCTTCCTTCCTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01943.hp1 NA18983.hp1 others(2): Show HG01261.hp1 HG01943.hp1 NA18983.hp1 NA18988.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0015 a0001c0001t0003 a0001c0001t0015	a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0093 others(2): Show a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0093 a0001c0001t0003g0126 a0001c0001t0015g0084	5	154	0.0325	28	c.303 others(49): Show c.3034-53199_3034-53198insCTTCCTTCCTTCCTTCCTTCTTTC TTTC	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92148173	C C	CTTCCTTC others(21): Show CTTCCTTCCTTCCTTCCTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18995.hp1 NA19058.hp1 HG00609.hp1 NA18995.hp1 NA19058.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0001 a0002c0006t0009 a0001c0001t0001 a0002c0006t0009	a0001c0001t0001g0042 a0001c0001t0001g0125 a0002c0006t0009g0032 a0001c0001t0001g0042 a0001c0001t0001g0125 a0002c0006t0009g0032	3	154	0.0195	28	c.303 others(49): Show c.3034-53199_3034-53198insCTTCCTTCCTTCCTTCTTTCTTTC TTTC	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92148173	C C	CTTCCTTC others(21): Show CTTCCTTCCTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA20300.hp1 NA18522.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0085 a0001c0001t0002g0018 a0001c0001t0002g0085	2	154	0.0130	28	c.303 others(49): Show c.3034-53199_3034-53198insCTTCCTTCTTTCTTTCTTTCTTTC TTTC	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(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01243.hp1 HG02145.hp1 others(6): Show HG01167.hp1 HG01243.hp1 HG02145.hp1 HG02717.hp1 HG03540.hp2 NA18953.hp1 NA18986.hp1 NA18994.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0022 a0001c0001t0025 a0001c0003t0001	a0001c0001t0001g0026 a0001c0001t0001g0099 a0001c0001t0001g0111 others(6): Show a0001c0001t0001g0026 a0001c0001t0001g0099 a0001c0001t0001g0111 a0001c0001t0002g0057 a0001c0001t0002g0103 a0001c0001t0003g0092 a0001c0001t0022g0023 a0001c0001t0025g0059 a0001c0003t0001g0145	9	154	0.0584	28	c.311 others(47): Show c.3114+7055_3114+7082dupTATATATATATATATATATATATATA TA	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(21): Show TATATATATAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0091 a0001c0001t0002g0091	1	154	0.0065	28	c.314 others(49): Show c.3145-61095_3145-61094insTATATATAGAGAGAGAGAGAGAGA GAGA	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(21): Show TATATATATATAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG03195.hp2 HG03225.hp1 HG01258.hp1 HG03195.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0002t0006 a0001c0001t0002 a0001c0002t0002 a0001c0002t0006	a0001c0001t0002g0083 a0001c0002t0002g0008 a0001c0002t0006g0007 a0001c0001t0002g0083 a0001c0002t0002g0008 a0001c0002t0006g0007	3	154	0.0195	28	c.314 others(49): Show c.3145-61095_3145-61094insTATATATATAGAGAGAGAGAGAGA GAGA	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(21): Show TATATATATATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0031 a0001c0009t0031	a0001c0009t0031g0044 a0001c0009t0031g0044	1	154	0.0065	28	c.314 others(49): Show c.3145-61095_3145-61094insTATATATATATAGAGAGAGAGAGA GAGA	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(21): Show TATATATATATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0022 a0001c0001t0006g0022	1	154	0.0065	28	c.314 others(49): Show c.3145-61095_3145-61094insTATATATATATATAGAGAGAGAGA GAGA	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(21): Show TATATATATATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02647.hp1 HG02809.hp2 HG02615.hp1 HG02647.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0001 a0001c0001t0002g0048 a0001c0001t0005g0075 a0001c0001t0002g0001 a0001c0001t0002g0048 a0001c0001t0005g0075	3	154	0.0195	28	c.314 others(49): Show c.3145-61095_3145-61094insTATATATATATATATAGAGAGAGA GAGA	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(21): Show ATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0045 a0001c0001t0008g0045	1	154	0.0065	28	c.314 others(49): Show c.3145-12568_3145-12567insATATATATATATATATATATATAT TTTT	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(21): Show ATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0052 a0001c0001t0012g0052	1	154	0.0065	28	c.314 others(49): Show c.3145-12568_3145-12567insATATATATATATATATATATTTTT TTTT	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	8/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11Y_chrY_4995296_5747224	5373122	C C	CCTTTCTT others(21): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	115	0.0087	28	c.285 others(51): Show c.2854-127934_2854-127933insTTTCTTTCTTTCTTTCTTTCTT TCTTTC	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(21): Show CCCTCCCTCCCTCCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	115	0.0087	28	c.285 others(51): Show c.2854-127930_2854-127929insCTCCCTCCCTCCTTTCTTTCTT TCTTTC	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(21): Show CCCTCCCTCCCTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA19068.hp1 NA18944.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0073 a0001c0001t0001g0074	2	115	0.0174	28	c.285 others(51): Show c.2854-127930_2854-127929insCTCCCTCCCTTCTTTCTTTCTT TCTTTC	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(21): Show CCCTCCCTCCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	115	0.0087	28	c.285 others(51): Show c.2854-127930_2854-127929insCTCCCTCCTTTCTTTCTTTCTT TCTTTC	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(21): Show CCCTCCCTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	115	0.0087	28	c.285 others(51): Show c.2854-127930_2854-127929insCTCCCTTCTTTCTTTCTTTCTT TCTTTC	PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chrY	TogoVar
PCDH11Y_chrY_4995296_5747224	5373126	C C	CCCTCCTT others(21): Show CCCTCCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA19066.hp1 NA19070.hp1 NA18612.hp1 NA19066.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0009 a0001c0001t0001g0021 a0001c0001t0003g0088 a0001c0001t0001g0009 a0001c0001t0001g0021 a0001c0001t0003g0088	3	115	0.0261	28	c.285 others(51): Show c.2854-127930_2854-127929insCTCCTTTCTTTCTTTCTTTCTT TCTTTC	PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chrY	TogoVar
PCDH11Y_chrY_4995296_5747224	5373126	C C	CCCTTCTT others(21): Show CCCTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0028 a0002c0002t0002g0028	1	115	0.0087	28	c.285 others(51): Show c.2854-127930_2854-127929insCTTCTTTCTTTCTTTCTTTCTT TCTTTC	PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chrY	TogoVar
PCDH15_chr10_53797771_54806231	53855904	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0037 a0037	a0037c0016 a0037c0016	a0037c0016t0001 a0037c0016t0001	a0037c0016t0001g0028 a0037c0016t0001g0028	1	102	0.0098	28	c.380 others(47): Show c.3806+1270_3806+1271insTATATATATATATATATATATATATA TA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	28/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	53964380	A A	ATTTATAA others(21): Show ATTTATAAATTTTATTTATTCATAAAATT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp1 HG01081.hp2 others(47): Show HG00735.hp1 HG00741.hp1 HG01081.hp2 HG01192.hp2 HG01243.hp2 HG01261.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01981.hp1 HG01981.hp2 HG02027.hp2 HG02145.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02886.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03225.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp2 HG03710.hp1 HG03942.hp2 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18945.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA20905.hp1	a0001 a0002 a0003 others(17): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0011 a0015 a0017 a0019 a0021 a0022 a0023 a0025 a0026 a0031 a0032 a0036	a0001c0001 a0002c0002 a0002c0039 others(18): Show a0001c0001 a0002c0002 a0002c0039 a0003c0003 a0004c0004 a0005c0005 a0006c0006 a0008c0007 a0009c0008 a0011c0038 a0015c0023 a0017c0024 a0019c0019 a0021c0030 a0022c0013 a0023c0034 a0025c0027 a0026c0015 a0031c0017 a0032c0036 a0036c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(38): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0014 a0001c0001t0020 a0002c0002t0001 a0002c0002t0004 a0002c0002t0005 a0002c0002t0007 a0002c0002t0008 a0002c0002t0009 a0002c0002t0023 a0002c0002t0027 a0002c0039t0001 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0004 a0003c0003t0009 a0003c0003t0019 a0004c0004t0001 a0004c0004t0002 a0005c0005t0002 a0005c0005t0009 a0006c0006t0002 a0008c0007t0002 a0008c0007t0022 a0009c0008t0002 a0011c0038t0001 a0015c0023t0026 a0017c0024t0001 a0019c0019t0015 a0021c0030t0018 a0022c0013t0003 a0023c0034t0013 a0025c0027t0001 a0026c0015t0001 a0031c0017t0002 a0032c0036t0004 a0036c0012t0001	a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0043 others(47): Show a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0101 a0001c0001t0003g0087 a0001c0001t0004g0031 a0001c0001t0008g0003 a0001c0001t0014g0074 a0001c0001t0020g0095 a0002c0002t0001g0093 a0002c0002t0004g0041 a0002c0002t0005g0016 a0002c0002t0007g0038 a0002c0002t0008g0019 a0002c0002t0009g0027 a0002c0002t0023g0034 a0002c0002t0027g0064 a0002c0039t0001g0073 a0003c0003t0001g0009 a0003c0003t0001g0017 a0003c0003t0002g0020 a0003c0003t0003g0033 a0003c0003t0004g0005 a0003c0003t0004g0088 a0003c0003t0009g0018 a0003c0003t0019g0060 a0004c0004t0001g0045 a0004c0004t0001g0059 a0004c0004t0002g0096 a0005c0005t0002g0094 a0005c0005t0009g0085 a0006c0006t0002g0050 a0008c0007t0002g0011 a0008c0007t0022g0075 a0009c0008t0002g0049 a0011c0038t0001g0040 a0015c0023t0026g0082 a0017c0024t0001g0053 a0019c0019t0015g0001 a0021c0030t0018g0007 a0022c0013t0003g0035 a0023c0034t0013g0058 a0025c0027t0001g0080 a0026c0015t0001g0029 a0031c0017t0002g0072 a0032c0036t0004g0061 a0036c0012t0001g0008	50	102	0.4902	28	c.286 others(47): Show c.2869-2516_2869-2489dupAATTTTATGAATAAATAAAATTTATA AA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	21/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	53964382	T T	TTATAAAT others(21): Show TTATAAATTTTATTTATTCATAAAATTTA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0063 a0002c0002t0002g0063	1	102	0.0098	28	c.286 others(47): Show c.2869-2491_2869-2490insTAAATTTTATGAATAAATAAAATTTA TA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	21/37			chr10	TogoVar

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