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(17): Show AGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01891.hp2 HG02074.hp1 others(11): Show HG01106.hp1 HG01891.hp2 HG02074.hp1 HG02615.hp1 HG02922.hp2 HG03704.hp1 HG04115.hp2 NA18941.hp2 NA18951.hp1 NA18972.hp2 NA19010.hp2 NA19011.hp1 NA19067.hp1 NA19074.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0004 a0003c0005 a0001c0001 a0002c0004 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0012 a0002c0004t0003 a0003c0005t0002	a0001c0001t0001g0003 a0001c0001t0001g0095 a0001c0001t0001g0300 others(11): Show a0001c0001t0001g0003 a0001c0001t0001g0095 a0001c0001t0001g0300 a0001c0001t0002g0036 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0135 a0001c0001t0003g0044 a0001c0001t0003g0261 a0001c0001t0004g0199 a0001c0001t0010g0125 a0001c0001t0012g0057 a0002c0004t0003g0047 a0003c0005t0002g0181	14	328	0.0427	24	c.586 others(43): Show c.586+28497_586+28520dupCTTCCTTCCTTCCTTCCTTCCTTC	PAX3	ENSG00000135903.20	transcript	ENST00000392070.7	protein_coding	4/8			chr2	TogoVar
PAX3_chr2_222194887_222303998	222265691	G G	GAAGGAAG others(17): Show GAAGGAAGGAAGGAAGGGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp1 HG02056.hp1 others(25): Show HG00140.hp2 HG00639.hp1 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG03491.hp1 HG03831.hp2 NA18612.hp2 NA18906.hp2 NA18942.hp1 NA18949.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp2 NA18962.hp2 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp2 NA18983.hp1 NA18986.hp1 NA18995.hp1 NA19004.hp1 NA19010.hp1 NA19060.hp1 NA19066.hp1 NA19082.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0007 others(2): Show a0001c0001 a0001c0002 a0001c0007 a0001c0009 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0001c0002t0001 a0001c0007t0002 a0001c0009t0001 a0002c0004t0003	a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0138 others(25): Show a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0138 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0175 a0001c0001t0002g0014 a0001c0001t0002g0052 a0001c0001t0002g0107 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0146 a0001c0001t0002g0190 a0001c0001t0002g0221 a0001c0001t0003g0106 a0001c0001t0003g0126 a0001c0001t0003g0168 a0001c0001t0003g0200 a0001c0001t0003g0203 a0001c0001t0003g0218 a0001c0001t0013g0177 a0001c0002t0001g0070 a0001c0007t0002g0117 a0001c0009t0001g0033 a0002c0004t0003g0214	28	328	0.0854	24	c.586 others(43): Show c.586+28475_586+28476insTCTCTCTCCCTTCCTTCCTTCCTT	PAX3	ENSG00000135903.20	transcript	ENST00000392070.7	protein_coding	4/8			chr2	TogoVar
PAX5_chr9_36828269_37039268	36848350	C C	CCACACAC others(17): Show CCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02922.hp1 HG02976.hp2 HG01243.hp2 HG02922.hp1 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0015 a0001c0006t0025 a0001c0002t0015 a0001c0006t0025	a0001c0002t0015g0237 a0001c0006t0025g0093 a0001c0006t0025g0095 a0001c0002t0015g0237 a0001c0006t0025g0093 a0001c0006t0025g0095	3	274	0.0110	24	c.101 others(43): Show c.1013-1445_1013-1422dupTGTGTGTGTGTGTGTGTGTGTGTG	PAX5	ENSG00000196092.14	transcript	ENST00000358127.9	protein_coding	8/9			chr9	TogoVar
PAX5_chr9_36828269_37039268	36848350	C C	CCCCACAC others(17): Show CCCCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0233 a0001c0002t0015g0234 a0001c0002t0015g0233 a0001c0002t0015g0234	2	274	0.0073	24	c.101 others(43): Show c.1013-1422_1013-1421insTGTGTGTGTGTGTGTGTGTGTGGG	PAX5	ENSG00000196092.14	transcript	ENST00000358127.9	protein_coding	8/9			chr9	TogoVar
PAX6_chr11_31784026_31816322	31814990	G G	GTCTCTCT others(17): Show GTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03492.hp2 HG03927.hp1 NA18969.hp2 others(1): Show HG03492.hp2 HG03927.hp1 NA18969.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0006 a0001c0001t0001g0027 a0001c0001t0001g0085 others(1): Show a0001c0001t0001g0006 a0001c0001t0001g0027 a0001c0001t0001g0085 a0001c0001t0002g0003	4	376	0.0106	24	c.-42 others(35): Show c.-4216_-4193dupGAGAGAGAGAGAGAGAGAGAGAGA	PAX6	ENSG00000007372.25	transcript	ENST00000640368.2	protein_coding		3669		chr11	TogoVar
PAX7_chr1_18625846_18753866	18635511	T T	TAGGAAGG others(17): Show TAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02129.hp1 HG02818.hp1 others(11): Show HG02109.hp2 HG02129.hp1 HG02818.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp1 HG03139.hp2 HG03195.hp1 HG03239.hp2 NA18906.hp2 NA18960.hp2 NA19030.hp2 NA19074.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0002t0003 a0001c0002t0005 a0001c0002t0008 a0001c0002t0010 a0001c0002t0013 a0001c0002t0015 a0001c0002t0027	a0001c0001t0002g0014 a0001c0001t0002g0047 a0001c0001t0003g0036 others(11): Show a0001c0001t0002g0014 a0001c0001t0002g0047 a0001c0001t0003g0036 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0009g0285 a0001c0002t0003g0131 a0001c0002t0005g0011 a0001c0002t0008g0012 a0001c0002t0008g0013 a0001c0002t0010g0053 a0001c0002t0013g0296 a0001c0002t0015g0046 a0001c0002t0027g0297	14	302	0.0464	24	c.451 others(39): Show c.451+288_451+289insGGAAGGAAGGAAGGAAGGAAGGAA	PAX7	ENSG00000009709.12	transcript	ENST00000420770.7	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PBK_chr8_27804624_27842817	27816343	C C	CTATATAT others(17): Show CTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02258.hp1 HG02258.hp2 others(6): Show HG00673.hp1 HG02258.hp1 HG02258.hp2 HG02630.hp2 HG02723.hp1 HG03041.hp1 NA18957.hp1 NA19077.hp1 NA19082.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0006 a0002c0002 a0004c0006	a0002c0002t0002 a0002c0002t0005 a0004c0006t0002 a0002c0002t0002 a0002c0002t0005 a0004c0006t0002	a0002c0002t0002g0017 a0002c0002t0002g0052 a0002c0002t0002g0063 others(4): Show a0002c0002t0002g0017 a0002c0002t0002g0052 a0002c0002t0002g0063 a0002c0002t0002g0073 a0002c0002t0005g0050 a0002c0002t0005g0056 a0004c0006t0002g0137	9	392	0.0230	24	c.595 others(41): Show c.595+4221_595+4222insTATATATATATATATATATATATA	PBK	ENSG00000168078.10	transcript	ENST00000301905.9	protein_coding	6/7			chr8	TogoVar
PBRM1_chr3_52540367_52690913	52542619	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	300	0.0033	24	c.54 others(35): Show c.5420_*5443dupTTTTTTTTTTTTTTTTTTTTTTTT	PBRM1	ENSG00000163939.19	transcript	ENST00000707071.1	protein_coding		2747		chr3	TogoVar
PBRM1_chr3_52540367_52690913	52604958	A A	AAAATAAA others(17): Show AAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA19007.hp1 NA18942.hp2 NA19007.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0159 a0001c0002t0001g0166 a0001c0002t0001g0159 a0001c0002t0001g0166	2	300	0.0067	24	c.261 others(43): Show c.2613-1250_2613-1227dupATTTATTTATTTATTTATTTATTT	PBRM1	ENSG00000163939.19	transcript	ENST00000707071.1	protein_coding	18/31			chr3	TogoVar
PBRM1_chr3_52540367_52690913	52612258	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG03704.hp2 HG01123.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0003t0001 a0001c0002t0003 a0001c0003t0001	a0001c0002t0003g0213 a0001c0003t0001g0255 a0001c0002t0003g0213 a0001c0003t0001g0255	2	300	0.0067	24	c.197 others(43): Show c.1970-2327_1970-2304dupTTTTTTTTTTTTTTTTTTTTTTTT	PBRM1	ENSG00000163939.19	transcript	ENST00000707071.1	protein_coding	17/31			chr3	TogoVar
PBRM1_chr3_52540367_52690913	52636757	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0246 a0001c0002t0001g0246	1	300	0.0033	24	c.108 others(43): Show c.1088-1966_1088-1943dupTTTTTTTTTTTTTTTTTTTTTTTT	PBRM1	ENSG00000163939.19	transcript	ENST00000707071.1	protein_coding	11/31			chr3	TogoVar
PBRM1_chr3_52540367_52690913	52637773	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0223 a0001c0002t0001g0223	1	300	0.0033	24	c.108 others(43): Show c.1088-2982_1088-2959dupTTTTTTTTTTTTTTTTTTTTTTTT	PBRM1	ENSG00000163939.19	transcript	ENST00000707071.1	protein_coding	11/31			chr3	TogoVar
PBX1_chr1_164554184_164856831	164562452	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0094 a0002c0002t0001g0094	1	184	0.0054	24	c.192 others(39): Show c.192-767_192-744dupACACACACACACACACACACACAC	PBX1	ENSG00000185630.20	transcript	ENST00000420696.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PBX1_chr1_164554184_164856831	164663196	T T	TCCTGCCT others(17): Show TCCTGCCTTCCTTCCTGCCTTCCTG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp1 HG00639.hp2 others(21): Show HG00423.hp2 HG00558.hp1 HG00639.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01361.hp2 HG01978.hp1 HG02280.hp2 HG02630.hp2 HG02735.hp2 HG02895.hp2 HG03704.hp1 HG03704.hp2 NA18941.hp1 NA18957.hp1 NA18959.hp1 NA18970.hp2 NA18975.hp1 NA19000.hp2 NA19081.hp2 NA19085.hp1 NA20129.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0014 a0001c0001t0018 a0001c0001t0030 a0001c0001t0031 a0001c0001t0040 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003	a0001c0001t0001g0027 a0001c0001t0001g0082 a0001c0001t0001g0100 others(21): Show a0001c0001t0001g0027 a0001c0001t0001g0082 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0136 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0002g0017 a0001c0001t0002g0032 a0001c0001t0002g0153 a0001c0001t0007g0086 a0001c0001t0014g0061 a0001c0001t0018g0116 a0001c0001t0030g0030 a0001c0001t0031g0084 a0001c0001t0040g0104 a0002c0002t0001g0096 a0002c0002t0001g0110 a0002c0002t0001g0135 a0002c0002t0001g0146 a0002c0002t0001g0157 a0002c0002t0001g0182 a0002c0002t0002g0161 a0002c0002t0003g0131	24	184	0.1304	24	c.265 others(43): Show c.265+99889_265+99912dupGCCTTCCTTCCTGCCTTCCTGCCT	PBX1	ENSG00000185630.20	transcript	ENST00000420696.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PBX1_chr1_164554184_164856831	164786718	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0011 a0001c0001t0013g0011	1	184	0.0054	24	c.266 others(41): Show c.266-5773_266-5772insTGTGTGTGTGTGTGTGTGCGCGTG	PBX1	ENSG00000185630.20	transcript	ENST00000420696.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PBX3_chr9_125742373_125972377	125793362	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	294	0.0034	24	c.274 others(43): Show c.274+44740_274+44741insTATATATATATATATATATATATA	PBX3	ENSG00000167081.18	transcript	ENST00000373489.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
PBX3_chr9_125742373_125972377	125793364	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	294	0.0034	24	c.274 others(43): Show c.274+44742_274+44743insTATATATATATATATATATATATA	PBX3	ENSG00000167081.18	transcript	ENST00000373489.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCBD2_chr5_134900131_134967644	134962072	T T	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0299 a0001c0001t0025g0299	1	330	0.0030	24	c.14 others(35): Show c.1403_*1426dupGTGTGTGTGTGTGTGTGTGTGTGT	PCBD2	ENSG00000132570.15	transcript	ENST00000254908.11	protein_coding	4/4	1427	INFO_REALIGN_3_PRIME	chr5	TogoVar
PCBP3_chr21_45638725_45947450	45646093	C C	CTCTCTCT others(17): Show CTCTCTCTCTCTCTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02015.hp1 HG03654.hp2 others(2): Show HG01975.hp1 HG02015.hp1 HG03654.hp2 HG03669.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0024 a0001c0001t0002 a0001c0001t0007 a0001c0001t0024	a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0235 others(2): Show a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0235 a0001c0001t0007g0234 a0001c0001t0024g0236	5	292	0.0171	24	c.-27 others(43): Show c.-279+2240_-279+2241insCTCTCTCTTTCTCTCTCTCTCTCT	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45667075	G G	GTTCGTTC others(17): Show GTTCGTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0209 a0001c0001t0002g0209	1	292	0.0034	24	c.-27 others(43): Show c.-278-1796_-278-1795insGTTCTTTCTTTCTTTCTTTCTTTC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45667075	G G	GTTCTTTC others(17): Show GTTCTTTCTTTCTTTCTTTCTTTCC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp2 HG01081.hp2 others(8): Show HG00323.hp2 HG00639.hp2 HG01081.hp2 HG01257.hp1 HG01258.hp2 HG01975.hp1 HG02647.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0220 a0001c0001t0002g0226 a0001c0001t0002g0231 others(8): Show a0001c0001t0002g0220 a0001c0001t0002g0226 a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0254 a0001c0001t0002g0256 a0001c0001t0002g0269 a0001c0001t0002g0275	11	292	0.0377	24	c.-27 others(43): Show c.-278-1776_-278-1775insCTTCTTTCTTTCTTTCTTTCTTTC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45784335	G G	GCTCTAGC others(17): Show GCTCTAGCTCTACCTCTACCTCTAC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0059 a0001c0001t0003g0059	1	292	0.0034	24	c.-12 others(45): Show c.-126+28888_-126+28889insGCTCTACCTCTACCTCTACCTCTA	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCCA_chr13_100084093_100535435	100263982	C C	CATATATA others(17): Show CATATATACGGTATCTGTATATTGT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03516.hp2 HG06807.hp2 HG02965.hp1 HG03516.hp2 HG06807.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0008 a0001c0001 a0008c0008	a0001c0001t0001 a0008c0008t0001 a0001c0001t0001 a0008c0008t0001	a0001c0001t0001g0088 a0001c0001t0001g0115 a0008c0008t0001g0103 a0001c0001t0001g0088 a0001c0001t0001g0115 a0008c0008t0001g0103	3	174	0.0172	24	c.819 others(41): Show c.819+1172_819+1173insTGTATATATACGGTATCTGTATAT	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	10/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100341957	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	174	0.0058	24	c.164 others(43): Show c.1643+1700_1643+1723dupATATATATATATATATATATATAT	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	18/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100341973	A A	ATATATAT others(17): Show ATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG03654.hp1 HG04228.hp1 others(1): Show HG01517.hp2 HG03654.hp1 HG04228.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0136 a0001c0001t0001g0151 others(1): Show a0001c0001t0001g0130 a0001c0001t0001g0136 a0001c0001t0001g0151 a0001c0001t0001g0169	4	174	0.0230	24	c.164 others(43): Show c.1643+1723_1643+1724insATATATATATATATGTATATATAT	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	18/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100348787	T T	TCTTTCTT others(17): Show TCTTTCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0060 a0001c0010t0001g0060	1	174	0.0058	24	c.164 others(43): Show c.1643+8531_1643+8532insTCTTCCTTCCTTCCTTCCTTCCTT	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	18/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100380032	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	174	0.0058	24	c.174 others(45): Show c.1746+11479_1746+11480insCACACACACACACACACACACACA	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100422070	T T	TTTTCTTT others(17): Show TTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp2 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0172 a0001c0001t0001g0056 a0001c0001t0001g0172	2	174	0.0115	24	c.174 others(43): Show c.1747-3535_1747-3512dupCTTTCTTTCTTTCTTTCTTTCTTT	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100501873	C C	CAATAAAT others(17): Show CAATAAATAAATAAATAAATAAATA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	174	0.0058	24	c.190 others(45): Show c.1900-13547_1900-13524dupTAAATAAATAAATAAATAAATAAA	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100524983	G G	GGATGGAT others(17): Show GGATGGATGGATAGATAGATAGATA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	174	0.0058	24	c.204 others(43): Show c.2041-2689_2041-2688insGGATGGATAGATAGATAGATAGAT	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCB_chr3_136245340_136335169	136264440	G G	GTGTATAT others(17): Show GTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02559.hp1 HG02622.hp1 others(1): Show HG01884.hp2 HG02559.hp1 HG02622.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0161 a0001c0001t0001g0177 a0001c0001t0001g0003 a0001c0001t0001g0161 a0001c0001t0001g0177	4	300	0.0133	24	c.543 others(41): Show c.543+2376_543+2377insGTATATATATATATATATATATAT	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(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02071.hp1 NA18612.hp1 others(2): Show HG00280.hp1 HG02071.hp1 NA18612.hp1 NA19005.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0016 a0001c0001t0026 others(1): Show a0001c0001t0001 a0001c0001t0016 a0001c0001t0026 a0001c0003t0002	a0001c0001t0001g0030 a0001c0001t0001g0127 a0001c0001t0016g0118 others(2): Show a0001c0001t0001g0030 a0001c0001t0001g0127 a0001c0001t0016g0118 a0001c0001t0026g0138 a0001c0003t0002g0143	5	154	0.0325	24	c.303 others(45): Show c.3033+65795_3033+65796insATATATATATATATATATATATAT	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(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0134 a0001c0001t0004g0134	1	154	0.0065	24	c.303 others(45): Show c.3034-90147_3034-90124dupAAAAAAAAAAAAAAAAAAAAAAAA	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(17): Show CCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01167.hp1 HG01934.hp1 others(12): Show HG00609.hp1 HG01167.hp1 HG01934.hp1 HG02071.hp1 HG02074.hp1 HG02132.hp1 HG03239.hp2 HG06807.hp1 NA18955.hp1 NA18967.hp1 NA18984.hp1 NA18989.hp1 NA19000.hp1 NA19066.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0006 a0001c0001 a0001c0002 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0001c0001t0016 a0001c0002t0001 a0002c0006t0009	a0001c0001t0001g0055 a0001c0001t0001g0066 a0001c0001t0001g0068 others(12): Show a0001c0001t0001g0055 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0098 a0001c0001t0001g0129 a0001c0001t0002g0067 a0001c0001t0002g0095 a0001c0001t0002g0103 a0001c0001t0003g0080 a0001c0001t0003g0123 a0001c0001t0003g0142 a0001c0001t0013g0097 a0001c0001t0016g0118 a0001c0002t0001g0005 a0002c0006t0009g0032	15	154	0.0974	24	c.303 others(45): Show c.3034-53544_3034-53521dupCTTTCTTTCTTTCTTTCTTTCTTT	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92147984	C C	CCTTCCTT others(17): Show CCTTCCTTCCTTCCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0149 a0001c0001t0020g0149	1	154	0.0065	24	c.303 others(45): Show c.3034-53388_3034-53387insCCTTCCTTCCTTTCTTTCTTTCTT	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92148133	T T	TTTCCTTC others(17): Show TTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA19083.hp1 NA18982.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0110 a0001c0001t0007g0037 a0001c0001t0002g0110 a0001c0001t0007g0037	2	154	0.0130	24	c.303 others(45): Show c.3034-53222_3034-53199dupCTTCCTTCCTTCCTTCCTTCCTTC	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92148165	C C	CTTCTTTC others(17): Show CTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0046 a0001c0001t0006g0046	1	154	0.0065	24	c.303 others(45): Show c.3034-53207_3034-53206insTTTCTTTCTTTCTTTCTTTCTTTC	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(17): Show CTTCCTTCCTTCCTTCCTTCCTTCT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01934.hp1 HG02027.hp1 others(5): Show HG01167.hp1 HG01934.hp1 HG02027.hp1 HG02738.hp1 NA18952.hp1 NA18966.hp1 NA18986.hp1 NA20805.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0004 a0003c0005 a0001c0001 a0002c0004 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0002c0004t0009 a0003c0005t0001	a0001c0001t0001g0034 a0001c0001t0001g0099 a0001c0001t0002g0095 others(5): Show a0001c0001t0001g0034 a0001c0001t0001g0099 a0001c0001t0002g0095 a0001c0001t0002g0103 a0001c0001t0002g0133 a0001c0001t0010g0136 a0002c0004t0009g0041 a0003c0005t0001g0114	8	154	0.0520	24	c.303 others(45): Show c.3034-53199_3034-53198insCTTCCTTCCTTCCTTCCTTCTTTC	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(17): Show CTTCCTTCCTTCCTTCCTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01255.hp1 HG01256.hp1 others(4): Show HG00673.hp1 HG01255.hp1 HG01256.hp1 HG02040.hp1 HG02056.hp1 HG02135.hp1 HG03017.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0004c0007t0001 a0001c0001t0001 a0001c0001t0002 a0004c0007t0001	a0001c0001t0001g0031 a0001c0001t0001g0060 a0001c0001t0001g0113 others(4): Show a0001c0001t0001g0031 a0001c0001t0001g0060 a0001c0001t0001g0113 a0001c0001t0001g0135 a0001c0001t0002g0028 a0001c0001t0002g0091 a0004c0007t0001g0020	7	154	0.0455	24	c.303 others(45): Show c.3034-53199_3034-53198insCTTCCTTCCTTCCTTCTTTCTTTC	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(17): Show CTTCCTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0050 a0001c0001t0005g0050	1	154	0.0065	24	c.303 others(45): Show c.3034-53199_3034-53198insCTTCTTTCTTTCTTTCTTTCTTTC	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(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01496.hp2 HG01934.hp1 others(15): Show HG01074.hp1 HG01496.hp2 HG01934.hp1 HG02027.hp1 HG02129.hp1 HG02132.hp1 HG02630.hp2 HG02735.hp1 HG02818.hp2 HG02965.hp1 HG03225.hp1 HG04204.hp1 NA18747.hp1 NA18959.hp1 NA18961.hp1 NA18989.hp1 NA19007.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0011 a0001c0001t0017 a0001c0001t0023 a0001c0002t0006 a0001c0008t0002	a0001c0001t0001g0034 a0001c0001t0001g0068 a0001c0001t0001g0120 others(15): Show a0001c0001t0001g0034 a0001c0001t0001g0068 a0001c0001t0001g0120 a0001c0001t0001g0140 a0001c0001t0001g0152 a0001c0001t0002g0054 a0001c0001t0002g0095 a0001c0001t0002g0102 a0001c0001t0003g0027 a0001c0001t0003g0069 a0001c0001t0003g0119 a0001c0001t0003g0142 a0001c0001t0008g0045 a0001c0001t0011g0010 a0001c0001t0017g0033 a0001c0001t0023g0013 a0001c0002t0006g0007 a0001c0008t0002g0038	18	154	0.1169	24	c.311 others(43): Show c.3114+7059_3114+7082dupTATATATATATATATATATATATA	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(17): Show TATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA20129.hp1 HG03195.hp2 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0002 a0001c0002t0002 a0001c0003t0002	a0001c0002t0002g0008 a0001c0003t0002g0143 a0001c0002t0002g0008 a0001c0003t0002g0143	2	154	0.0130	24	c.311 others(43): Show c.3114+7082_3114+7083insTATATATATATATATATATATACA	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(17): Show TATATATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	154	0.0065	24	c.314 others(45): Show c.3145-61095_3145-61094insTATATATATATAGAGAGAGAGAGA	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(17): Show TATATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0116 a0001c0001t0004g0116	1	154	0.0065	24	c.314 others(45): Show c.3145-61095_3145-61094insTATATATATATATAGAGAGAGAGA	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(17): Show TATATATATATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0093 a0001c0001t0003g0093	1	154	0.0065	24	c.314 others(45): Show c.3145-61095_3145-61094insTATATATATATATATAGAGAGAGA	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(17): Show TATATATATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0027 a0001c0001t0003g0027	1	154	0.0065	24	c.314 others(45): Show c.3145-61095_3145-61094insTATATATATATATATATAGAGAGA	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(17): Show TTTCTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	154	0.0065	24	c.314 others(45): Show c.3145-56440_3145-56417dupTTCTTCTTCTTCTTCTTCTTCTTC	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(17): Show ATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0021 a0001c0001t0005g0021	1	154	0.0065	24	c.314 others(45): Show c.3145-12568_3145-12567insATATATATATATATATTTTTTTTT	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	8/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11Y_chrY_4995296_5747224	5373126	C C	CCCTCCCT others(17): Show CCCTCCCTCCCTCCCTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	115	0.0087	24	c.285 others(47): Show c.2854-127930_2854-127929insCTCCCTCCCTCCCTTCTTTCTT TC	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(17): Show CCCTCCCTCCCTCCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02698.hp1 NA19043.hp1 HG01167.hp1 HG02698.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0086 a0001c0001t0001g0098 a0001c0001t0001g0035 a0001c0001t0001g0086 a0001c0001t0001g0098	3	115	0.0261	24	c.285 others(47): Show c.2854-127930_2854-127929insCTCCCTCCCTCCTTTCTTTCTT TC	PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chrY	TogoVar

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