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
PDXK_chr21_43714129_43767299	43741361	C C	CGGGGGGC others(16): Show CGGGGGGCTCGCGGGGGGCTCGCG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0126 a0001c0001t0068g0126	1	301	0.0033	23	c.143 others(38): Show c.143-298_143-297insCGCGGGGGGCTCGCGGGGGGGCT	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741418	C C	CGGGGGGC others(16): Show CGGGGGGCTCGCGGGGGGCTCGCG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	248	0.0040	23	c.143 others(38): Show c.143-243_143-242insCTCGCGGGGGGCTCGCGGGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741419	G G	GGGGGGCT others(16): Show GGGGGGCTCGCGGGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0206 a0001c0001t0002g0206	1	283	0.0035	23	c.143 others(38): Show c.143-243_143-242insCTCGCGGGGGGGGCTCGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741419	G G	GGGGGGGC others(16): Show GGGGGGGCTCGCGGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0269 a0001c0001t0032g0269	1	283	0.0035	23	c.143 others(38): Show c.143-231_143-230insGCTCGCGGGGGGCTCGCGGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741430	C C	CGGGGGCC others(16): Show CGGGGGCCTCGCGGGGGGCTCGCA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0098 a0001c0001t0025g0098	1	314	0.0032	23	c.143 others(38): Show c.143-232_143-231insCCTCGCGGGGGGCTCGCAGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741430	C C	CGGGGGGC others(16): Show CGGGGGGCTCGCGGGGGGCTCGCG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0219 a0001c0001t0004g0219	1	314	0.0032	23	c.143 others(38): Show c.143-220_143-219insCTCGCGGGGGGGCTCGCGGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741442	G G	GGGGGGGC others(16): Show GGGGGGGCTCGCGGGGGGCTCGCA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG03654.hp2 NA18941.hp1 others(2): Show HG01952.hp1 HG03654.hp2 NA18941.hp1 NA19007.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0016 a0001c0002t0003 a0001c0001t0001 a0001c0001t0016 a0001c0002t0003	a0001c0001t0001g0160 a0001c0001t0001g0298 a0001c0001t0001g0302 others(2): Show a0001c0001t0001g0160 a0001c0001t0001g0298 a0001c0001t0001g0302 a0001c0001t0016g0088 a0001c0002t0003g0145	5	218	0.0229	23	c.143 others(38): Show c.143-203_143-202insAGGGGGGCTCGCGGGGGGCTCGC	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741442	G G	GGGGGGGC others(16): Show GGGGGGGCTCGCGGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02572.hp2 HG03130.hp1 others(2): Show HG02258.hp2 HG02572.hp2 HG03130.hp1 NA18522.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0080 a0001c0001t0081 a0001c0001t0007 a0001c0001t0080 a0001c0001t0081	a0001c0001t0007g0123 a0001c0001t0007g0179 a0001c0001t0007g0188 others(2): Show a0001c0001t0007g0123 a0001c0001t0007g0179 a0001c0001t0007g0188 a0001c0001t0080g0122 a0001c0001t0081g0181	5	218	0.0229	23	c.143 others(38): Show c.143-208_143-207insGCTCGCGGGGGGCTCGCGGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741453	C C	CGGGGGGC others(16): Show CGGGGGGCTCGCGGGGGGCTCGCG	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0340 a0001c0001t0002g0340	1	326	0.0031	23	c.143 others(38): Show c.143-193_143-192insCGGGGGGGCTCGCGGGGGGCTCG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741454	G G	GGGGGGGC others(16): Show GGGGGGGCTCGCGGGGGGCTCGCA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0206 a0001c0001t0002g0206	1	308	0.0032	23	c.143 others(38): Show c.143-208_143-207insGCTCGCGGGGGGCTCGCAGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDZD2_chr5_31634131_32115932	31689353	A A	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0013 a0005c0009t0013	a0005c0009t0013g0051 a0005c0009t0013g0051	1	30	0.0333	23	c.-36 others(44): Show c.-361+49917_-361+49918insATATATATATATATTTTTTTTTT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31689353	A A	ATATATAT others(16): Show ATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0210 a0001c0001t0041g0210	1	30	0.0333	23	c.-36 others(44): Show c.-361+49917_-361+49918insATATATATATATTTTTTTTTTTT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31689353	A A	ATATATAT others(16): Show ATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0009 a0001c0007t0009	a0001c0007t0009g0097 a0001c0007t0009g0097	1	30	0.0333	23	c.-36 others(44): Show c.-361+49917_-361+49918insATATATATTTTTTTTTTTTTTTT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31689354	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0009 a0001c0007t0009	a0001c0007t0009g0067 a0001c0007t0009g0067	1	209	0.0048	23	c.-36 others(44): Show c.-361+49917_-361+49918insATATATATATATATATATATATA	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24			chr5	TogoVar
PDZD2_chr5_31634131_32115932	31752068	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0036 a0036	a0036c0030 a0036c0030	a0036c0030t0033 a0036c0030t0033	a0036c0030t0033g0103 a0036c0030t0033g0103	1	91	0.0110	23	c.-36 others(44): Show c.-360-46821_-360-46820insTTTTTTTTTTTTTTTTTTTTTTT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24			chr5	TogoVar
PDZD2_chr5_31634131_32115932	31886633	C C	CCAGTGAC others(16): Show CCAGTGACTGTTACAGGTCTGTTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp2 HG00544.hp1 others(99): Show HG00099.hp2 HG00438.hp2 HG00544.hp1 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01099.hp2 HG01109.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG03831.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18962.hp2 NA18964.hp1 NA18968.hp1 NA18973.hp2 NA18979.hp1 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19240.hp1	a0001 a0002 a0003 others(22): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0013 a0015 a0016 a0018 a0019 a0020 a0021 a0023 a0024 a0025 a0026 a0029 a0032 a0033	a0001c0001 a0001c0005 a0001c0007 others(39): Show a0001c0001 a0001c0005 a0001c0007 a0001c0010 a0001c0017 a0001c0024 a0001c0026 a0001c0034 a0001c0035 a0001c0036 a0002c0002 a0002c0003 a0002c0011 a0002c0012 a0003c0004 a0003c0008 a0004c0006 a0004c0029 a0004c0041 a0005c0009 a0005c0045 a0006c0015 a0007c0013 a0008c0018 a0008c0020 a0009c0014 a0010c0039 a0011c0043 a0013c0037 a0015c0033 a0016c0032 a0018c0060 a0019c0065 a0020c0028 a0021c0042 a0023c0048 a0024c0049 a0025c0019 a0026c0046 a0029c0052 a0032c0064 a0033c0058	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(70): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0022 a0001c0001t0037 a0001c0001t0044 a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0001c0005t0024 a0001c0005t0048 a0001c0007t0009 a0001c0007t0047 a0001c0010t0015 a0001c0017t0023 a0001c0024t0007 a0001c0026t0002 a0001c0034t0019 a0001c0035t0039 a0001c0036t0019 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0002c0002t0008 a0002c0003t0002 a0002c0003t0005 a0002c0003t0011 a0002c0011t0001 a0002c0012t0003 a0003c0004t0001 a0003c0004t0003 a0003c0004t0004 a0003c0004t0042 a0003c0008t0004 a0003c0008t0012 a0004c0006t0007 a0004c0006t0010 a0004c0029t0049 a0004c0041t0031 a0005c0009t0009 a0005c0009t0013 a0005c0045t0038 a0006c0015t0040 a0006c0015t0046 a0007c0013t0004 a0008c0018t0006 a0008c0020t0001 a0009c0014t0001 a0009c0014t0004 a0010c0039t0030 a0011c0043t0002 a0013c0037t0001 a0015c0033t0007 a0016c0032t0001 a0018c0060t0014 a0019c0065t0004 a0020c0028t0004 a0021c0042t0014 a0023c0048t0002 a0024c0049t0008 a0025c0019t0007 a0026c0046t0014 a0029c0052t0003 a0032c0064t0001 a0033c0058t0001	a0001c0001t0001g0049 a0001c0001t0001g0064 a0001c0001t0001g0070 others(99): Show a0001c0001t0001g0049 a0001c0001t0001g0064 a0001c0001t0001g0070 a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0091 a0001c0001t0001g0098 a0001c0001t0001g0106 a0001c0001t0001g0122 a0001c0001t0001g0136 a0001c0001t0001g0152 a0001c0001t0001g0173 a0001c0001t0001g0179 a0001c0001t0002g0114 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0023 a0001c0001t0005g0010 a0001c0001t0006g0155 a0001c0001t0008g0065 a0001c0001t0008g0107 a0001c0001t0010g0040 a0001c0001t0016g0096 a0001c0001t0017g0068 a0001c0001t0018g0167 a0001c0001t0022g0054 a0001c0001t0037g0193 a0001c0001t0044g0006 a0001c0005t0001g0066 a0001c0005t0001g0130 a0001c0005t0001g0162 a0001c0005t0002g0138 a0001c0005t0003g0014 a0001c0005t0024g0158 a0001c0005t0048g0002 a0001c0007t0009g0057 a0001c0007t0009g0067 a0001c0007t0009g0097 a0001c0007t0047g0035 a0001c0010t0015g0196 a0001c0010t0015g0199 a0001c0017t0023g0110 a0001c0024t0007g0085 a0001c0026t0002g0116 a0001c0034t0019g0212 a0001c0035t0039g0209 a0001c0036t0019g0211 a0002c0002t0001g0182 a0002c0002t0002g0214 a0002c0002t0003g0021 a0002c0002t0003g0027 a0002c0002t0006g0170 a0002c0002t0008g0059 a0002c0003t0002g0056 a0002c0003t0002g0131 a0002c0003t0002g0132 a0002c0003t0002g0147 a0002c0003t0002g0189 a0002c0003t0005g0016 a0002c0003t0011g0105 a0002c0011t0001g0119 a0002c0012t0003g0011 a0003c0004t0001g0168 a0003c0004t0003g0022 a0003c0004t0004g0151 a0003c0004t0004g0154 a0003c0004t0004g0161 a0003c0004t0042g0026 a0003c0008t0004g0160 a0003c0008t0012g0020 a0004c0006t0007g0201 a0004c0006t0010g0050 a0004c0006t0010g0112 a0004c0006t0010g0206 a0004c0029t0049g0001 a0004c0041t0031g0153 a0005c0009t0009g0102 a0005c0009t0013g0203 a0005c0045t0038g0060 a0006c0015t0040g0213 a0006c0015t0046g0005 a0007c0013t0004g0198 a0008c0018t0006g0061 a0008c0020t0001g0072 a0009c0014t0001g0043 a0009c0014t0004g0062 a0010c0039t0030g0216 a0011c0043t0002g0128 a0013c0037t0001g0166 a0015c0033t0007g0111 a0016c0032t0001g0087 a0018c0060t0014g0204 a0019c0065t0004g0052 a0020c0028t0004g0118 a0021c0042t0014g0071 a0023c0048t0002g0101 a0024c0049t0008g0044 a0025c0019t0007g0205 a0026c0046t0014g0080 a0029c0052t0003g0003 a0032c0064t0001g0075 a0033c0058t0001g0174	102	214	0.4766	23	c.476 others(42): Show c.476+86926_476+86927insCTGTTACAGTGACTGTTACAGGT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31886636	G G	GTGACTGT others(16): Show GTGACTGTTACAGGTCTGTTACAA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0045 a0001c0001t0008g0045	1	214	0.0047	23	c.476 others(42): Show c.476+86926_476+86927insCTGTTACAATGACTGTTACAGGT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31969509	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0137 a0003c0004t0001g0137	1	22	0.0455	23	c.477 others(42): Show c.477-13642_477-13620dupAAAAAAAAAAAAAAAAAAAAAAA	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	32025591	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG03710.hp2 HG01071.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0191 a0001c0001t0001g0185 a0001c0001t0001g0191	2	27	0.0741	23	c.140 others(44): Show c.1408-11634_1408-11612dupTTTTTTTTTTTTTTTTTTTTTTT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	6/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	32070903	G G	GAGAATTG others(16): Show GAGAATTGCTTGAACCCAGGAGGC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01243.hp2 HG01496.hp1 others(21): Show HG01192.hp2 HG01243.hp2 HG01496.hp1 HG01884.hp2 HG01891.hp1 HG02257.hp1 HG02258.hp1 HG02451.hp1 HG02723.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp2 HG02922.hp1 HG02970.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 NA18522.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA21309.hp1	a0001 a0002 a0004 others(9): Show a0001 a0002 a0004 a0010 a0015 a0017 a0018 a0025 a0026 a0027 a0035 a0036	a0001c0034 a0001c0035 a0001c0036 others(14): Show a0001c0034 a0001c0035 a0001c0036 a0002c0002 a0004c0006 a0004c0029 a0004c0041 a0010c0023 a0010c0039 a0015c0033 a0017c0031 a0018c0060 a0025c0019 a0026c0046 a0027c0047 a0035c0061 a0036c0030	a0001c0034t0019 a0001c0035t0039 a0001c0036t0019 others(15): Show a0001c0034t0019 a0001c0035t0039 a0001c0036t0019 a0002c0002t0008 a0004c0006t0007 a0004c0006t0010 a0004c0029t0049 a0004c0041t0031 a0010c0023t0029 a0010c0039t0030 a0015c0033t0007 a0017c0031t0001 a0018c0060t0014 a0025c0019t0007 a0026c0046t0014 a0027c0047t0001 a0035c0061t0016 a0036c0030t0033	a0001c0034t0019g0212 a0001c0035t0039g0209 a0001c0036t0019g0211 others(21): Show a0001c0034t0019g0212 a0001c0035t0039g0209 a0001c0036t0019g0211 a0002c0002t0008g0059 a0004c0006t0007g0063 a0004c0006t0007g0074 a0004c0006t0007g0201 a0004c0006t0007g0202 a0004c0006t0010g0050 a0004c0006t0010g0055 a0004c0006t0010g0112 a0004c0006t0010g0206 a0004c0029t0049g0001 a0004c0041t0031g0153 a0010c0023t0029g0180 a0010c0039t0030g0216 a0015c0033t0007g0111 a0017c0031t0001g0186 a0018c0060t0014g0204 a0025c0019t0007g0205 a0026c0046t0014g0080 a0027c0047t0001g0073 a0035c0061t0016g0077 a0036c0030t0033g0103	24	133	0.1805	23	c.253 others(40): Show c.2534-478_2534-477insATTGCTTGAACCCAGGAGGCAGA	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	15/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	32070903	G G	GAGAATTG others(16): Show GAGAATTGCTTGAACCCGGGAGGC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp1 HG00544.hp2 others(62): Show HG00280.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG01081.hp1 HG01109.hp2 HG01168.hp2 HG01243.hp1 HG01891.hp2 HG01975.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02135.hp1 HG02145.hp2 HG02280.hp2 HG02486.hp2 HG02602.hp2 HG02647.hp1 HG02683.hp2 HG02897.hp1 HG02970.hp2 HG03041.hp1 HG03130.hp2 HG03239.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03834.hp1 HG04184.hp2 HG06807.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18948.hp1 NA18962.hp1 NA18964.hp1 NA18968.hp1 NA18968.hp2 NA18973.hp1 NA18979.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp2 NA19005.hp1 NA19009.hp2 NA19011.hp2 NA19030.hp1 NA19057.hp2 NA19085.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA20300.hp1 NA20752.hp2 NA21309.hp2	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0005 a0006 a0007 a0009 a0013 a0019 a0020 a0021 a0023 a0034	a0001c0001 a0001c0022 a0001c0044 others(19): Show a0001c0001 a0001c0022 a0001c0044 a0001c0056 a0002c0003 a0002c0012 a0002c0040 a0002c0063 a0003c0004 a0003c0008 a0003c0038 a0005c0009 a0006c0015 a0006c0016 a0007c0013 a0009c0014 a0013c0037 a0019c0065 a0020c0028 a0021c0042 a0023c0048 a0034c0055	a0001c0001t0001 a0001c0022t0001 a0001c0044t0001 others(39): Show a0001c0001t0001 a0001c0022t0001 a0001c0044t0001 a0001c0056t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 a0002c0003t0011 a0002c0003t0020 a0002c0012t0002 a0002c0012t0003 a0002c0040t0032 a0002c0063t0002 a0003c0004t0001 a0003c0004t0002 a0003c0004t0003 a0003c0004t0004 a0003c0004t0005 a0003c0004t0011 a0003c0004t0012 a0003c0004t0026 a0003c0004t0027 a0003c0004t0042 a0003c0004t0045 a0003c0008t0004 a0003c0008t0006 a0003c0008t0012 a0003c0038t0001 a0005c0009t0009 a0006c0015t0040 a0006c0015t0046 a0006c0016t0002 a0007c0013t0001 a0007c0013t0004 a0009c0014t0001 a0009c0014t0004 a0013c0037t0001 a0019c0065t0004 a0020c0028t0004 a0021c0042t0014 a0023c0048t0002 a0034c0055t0028	a0001c0001t0001g0125 a0001c0022t0001g0126 a0001c0044t0001g0184 others(62): Show a0001c0001t0001g0125 a0001c0022t0001g0126 a0001c0044t0001g0184 a0001c0056t0001g0092 a0002c0003t0001g0157 a0002c0003t0002g0048 a0002c0003t0002g0056 a0002c0003t0002g0076 a0002c0003t0002g0081 a0002c0003t0002g0088 a0002c0003t0002g0131 a0002c0003t0002g0132 a0002c0003t0002g0141 a0002c0003t0002g0147 a0002c0003t0002g0171 a0002c0003t0002g0172 a0002c0003t0002g0189 a0002c0003t0002g0197 a0002c0003t0005g0016 a0002c0003t0005g0017 a0002c0003t0005g0018 a0002c0003t0005g0029 a0002c0003t0011g0105 a0002c0003t0011g0149 a0002c0003t0020g0033 a0002c0012t0002g0117 a0002c0012t0003g0011 a0002c0040t0032g0143 a0002c0063t0002g0129 a0003c0004t0001g0047 a0003c0004t0001g0137 a0003c0004t0001g0168 a0003c0004t0002g0113 a0003c0004t0003g0022 a0003c0004t0004g0151 a0003c0004t0004g0154 a0003c0004t0004g0161 a0003c0004t0004g0195 a0003c0004t0005g0031 a0003c0004t0011g0090 a0003c0004t0011g0163 a0003c0004t0012g0013 a0003c0004t0026g0104 a0003c0004t0027g0139 a0003c0004t0042g0026 a0003c0004t0045g0028 a0003c0008t0004g0160 a0003c0008t0006g0148 a0003c0008t0012g0020 a0003c0008t0012g0030 a0003c0038t0001g0094 a0005c0009t0009g0102 a0006c0015t0040g0213 a0006c0015t0046g0005 a0006c0016t0002g0082 a0007c0013t0001g0200 a0007c0013t0004g0198 a0009c0014t0001g0043 a0009c0014t0004g0062 a0013c0037t0001g0166 a0019c0065t0004g0052 a0020c0028t0004g0118 a0021c0042t0014g0071 a0023c0048t0002g0101 a0034c0055t0028g0093	65	174	0.3736	23	c.253 others(40): Show c.2534-478_2534-477insATTGCTTGAACCCGGGAGGCAGA	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	15/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	32070903	G G	GATAATTG others(16): Show GATAATTGCTTGAACCCGGGAGGC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02647.hp2 HG02717.hp2 others(12): Show HG02451.hp2 HG02647.hp2 HG02717.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp1 HG03453.hp1 HG03471.hp2 HG03579.hp2 NA18906.hp2	a0001 a0005 a0008 others(2): Show a0001 a0005 a0008 a0022 a0028	a0001c0007 a0001c0010 a0001c0050 others(5): Show a0001c0007 a0001c0010 a0001c0050 a0005c0009 a0008c0018 a0008c0020 a0022c0059 a0028c0054	a0001c0007t0009 a0001c0007t0047 a0001c0010t0015 others(7): Show a0001c0007t0009 a0001c0007t0047 a0001c0010t0015 a0001c0010t0043 a0001c0050t0036 a0005c0009t0013 a0008c0018t0006 a0008c0020t0001 a0022c0059t0001 a0028c0054t0009	a0001c0007t0009g0057 a0001c0007t0009g0067 a0001c0007t0009g0097 others(12): Show a0001c0007t0009g0057 a0001c0007t0009g0067 a0001c0007t0009g0097 a0001c0007t0009g0181 a0001c0007t0047g0035 a0001c0010t0015g0199 a0001c0010t0043g0034 a0001c0050t0036g0187 a0005c0009t0013g0051 a0005c0009t0013g0058 a0005c0009t0013g0203 a0008c0018t0006g0061 a0008c0020t0001g0072 a0022c0059t0001g0099 a0028c0054t0009g0039	15	124	0.1210	23	c.253 others(40): Show c.2534-480_2534-479insTAATTGCTTGAACCCGGGAGGCA	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	15/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	32070903	G G	GATAATTG others(16): Show GATAATTGCTTGAACCTGGGAGGC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0014 a0014	a0014c0051 a0014c0051	a0014c0051t0008 a0014c0051t0008	a0014c0051t0008g0053 a0014c0051t0008g0053	1	110	0.0091	23	c.253 others(40): Show c.2534-480_2534-479insTAATTGCTTGAACCTGGGAGGCA	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	15/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD7_chr10_101002679_101036129	101017856	A A	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGGAAAGAAG	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0004 a0006c0006t0004	a0006c0006t0004g0018 a0006c0006t0004g0018	1	430	0.0023	23	c.152 others(40): Show c.1522+242_1522+243insCTTCTTTCCTTTCTTTCTTTCTT	PDZD7	ENSG00000186862.20	transcript	ENST00000619208.6	protein_coding	9/16			chr10	TogoVar
PDZD7_chr10_101002679_101036129	101017892	A A	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01928.hp1 HG02071.hp1 others(7): Show HG00597.hp1 HG01928.hp1 HG02071.hp1 HG02148.hp2 HG02622.hp2 HG02818.hp1 HG02922.hp2 HG03239.hp2 NA18948.hp2 NA19055.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0015 a0002c0002 others(1): Show a0001c0001 a0001c0015 a0002c0002 a0002c0010	a0001c0001t0002 a0001c0001t0004 a0001c0015t0002 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0015t0002 a0001c0015t0003 a0002c0002t0003 a0002c0002t0004 a0002c0010t0002	a0001c0001t0002g0213 a0001c0001t0004g0197 a0001c0001t0004g0209 others(7): Show a0001c0001t0002g0213 a0001c0001t0004g0197 a0001c0001t0004g0209 a0001c0001t0004g0221 a0001c0015t0002g0258 a0001c0015t0003g0136 a0002c0002t0003g0104 a0002c0002t0003g0148 a0002c0002t0004g0205 a0002c0010t0002g0099	10	275	0.0364	23	c.152 others(40): Show c.1522+206_1522+207insCTTTCTTTCTTTCTTTCTTTCTT	PDZD7	ENSG00000186862.20	transcript	ENST00000619208.6	protein_coding	9/16			chr10	TogoVar
PDZRN3_chr3_73377431_73629941	73563013	A A	ATATATAT others(16): Show ATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0059 a0001c0002t0001g0059	1	175	0.0057	23	c.918 others(42): Show c.918+39340_918+39341insAAAAATATATATATATATATATA	PDZRN3	ENSG00000121440.15	transcript	ENST00000263666.9	protein_coding	3/9			chr3	TogoVar
PDZRN3_chr3_73377431_73629941	73563013	A A	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0207 a0001c0004t0004g0207	1	175	0.0057	23	c.918 others(42): Show c.918+39340_918+39341insAAAAAAATATATATATATATATA	PDZRN3	ENSG00000121440.15	transcript	ENST00000263666.9	protein_coding	3/9			chr3	TogoVar
PDZRN3_chr3_73377431_73629941	73563014	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0036 a0002c0003t0001g0036	1	187	0.0053	23	c.918 others(42): Show c.918+39339_918+39340insTATATATATATATATATATATAT	PDZRN3	ENSG00000121440.15	transcript	ENST00000263666.9	protein_coding	3/9			chr3	TogoVar
PDZRN4_chr12_41183320_41579745	41214430	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01109.hp1 HG01243.hp2 others(15): Show HG00558.hp1 HG01109.hp1 HG01243.hp2 HG02486.hp2 HG02683.hp2 HG03017.hp2 HG03491.hp1 HG03492.hp1 HG03704.hp1 NA18612.hp1 NA18950.hp1 NA18955.hp1 NA18970.hp2 NA18981.hp1 NA18998.hp1 NA19058.hp2 NA19065.hp2 NA19066.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0021	a0001c0001 a0001c0004 a0001c0011 others(6): Show a0001c0001 a0001c0004 a0001c0011 a0001c0013 a0001c0042 a0003c0005 a0004c0003 a0004c0012 a0021c0041	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0011t0003 a0001c0013t0001 a0001c0042t0001 a0003c0005t0001 a0004c0003t0002 a0004c0012t0001 a0021c0041t0002	a0001c0001t0001g0016 a0001c0001t0001g0042 a0001c0001t0001g0064 others(15): Show a0001c0001t0001g0016 a0001c0001t0001g0042 a0001c0001t0001g0064 a0001c0001t0002g0002 a0001c0001t0002g0054 a0001c0001t0002g0061 a0001c0004t0001g0056 a0001c0004t0001g0060 a0001c0011t0003g0055 a0001c0013t0001g0040 a0001c0042t0001g0015 a0003c0005t0001g0018 a0003c0005t0001g0059 a0004c0003t0002g0057 a0004c0003t0002g0058 a0004c0012t0001g0102 a0004c0012t0001g0103 a0021c0041t0002g0065	18	63	0.2857	23	c.843 others(42): Show c.843+20262_843+20263insAAAAAAAAAAAAAAAAAAAAAAA	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEBP4_chr8_22708251_22932914	22728565	T T	TTCCTTCC others(16): Show TTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0044 a0002c0002t0001g0044	1	276	0.0036	23	c.358 others(40): Show c.358-1368_358-1346dupGGAAGGAAGGAAGGAAGGAAGGA	PEBP4	ENSG00000134020.8	transcript	ENST00000256404.8	protein_coding	4/6			chr8	TogoVar
PEBP4_chr8_22708251_22932914	22728569	T T	TTCCTTCC others(16): Show TTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0257 a0002c0002t0002g0257	1	276	0.0036	23	c.358 others(40): Show c.358-1372_358-1350dupGGAAGGAAGGAAGGAAGGAAGGA	PEBP4	ENSG00000134020.8	transcript	ENST00000256404.8	protein_coding	4/6			chr8	TogoVar
PEBP4_chr8_22708251_22932914	22749805	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0256 a0003c0004t0004g0256	1	47	0.0213	23	c.358 others(42): Show c.358-22586_358-22585insAAAAAAAAAAAAAAAAAAAAAAA	PEBP4	ENSG00000134020.8	transcript	ENST00000256404.8	protein_coding	4/6			chr8	TogoVar
PELP1_chr17_4664774_4709137	4668953	C C	CATATATA others(16): Show CATATATATAACACATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0201 a0001c0004t0004g0201	1	280	0.0036	23	c.24 others(34): Show c.2485_*2486insATATATATATGTGTTATATATAT	PELP1	ENSG00000141456.16	transcript	ENST00000572293.7	protein_coding		820		chr17	TogoVar
PEPD_chr19_33381950_33526791	33431992	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02055.hp1 HG02148.hp1 others(7): Show HG00597.hp1 HG02055.hp1 HG02148.hp1 HG03453.hp1 NA18981.hp1 NA19005.hp1 NA19060.hp1 NA19079.hp2 NA19085.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0003t0001 a0002c0002t0002 a0002c0002t0005	a0001c0001t0001g0305 a0001c0001t0001g0308 a0001c0003t0001g0151 others(7): Show a0001c0001t0001g0305 a0001c0001t0001g0308 a0001c0003t0001g0151 a0001c0003t0001g0240 a0001c0003t0001g0255 a0002c0002t0002g0219 a0002c0002t0002g0228 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0005g0091	10	120	0.0833	23	c.672 others(42): Show c.672-18350_672-18349insTTTTTTTTTTTTTTTTTTTTTTT	PEPD	ENSG00000124299.16	transcript	ENST00000244137.12	protein_coding	9/14			chr19	TogoVar
PER3_chr1_7779291_7850177	7806810	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0001 a0002c0012t0001	a0002c0012t0001g0178 a0002c0012t0001g0178	1	169	0.0059	23	c.113 others(42): Show c.1137-2083_1137-2082insTATATATATATATATATATATAT	PER3	ENSG00000049246.15	transcript	ENST00000377532.8	protein_coding	10/21			chr1	TogoVar
PER3_chr1_7779291_7850177	7806812	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0135 a0001c0003t0001g0135	1	42	0.0238	23	c.113 others(42): Show c.1137-2080_1137-2079insAAAAAAAAAAAAAAATATATATA	PER3	ENSG00000049246.15	transcript	ENST00000377532.8	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
PER3_chr1_7779291_7850177	7806812	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02071.hp2 NA19012.hp2 others(1): Show HG01074.hp2 HG02071.hp2 NA19012.hp2 NA19067.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0004 a0001c0003t0001 a0001c0003t0004	a0001c0003t0001g0011 a0001c0003t0001g0120 a0001c0003t0001g0129 others(1): Show a0001c0003t0001g0011 a0001c0003t0001g0120 a0001c0003t0001g0129 a0001c0003t0004g0109	4	45	0.0889	23	c.113 others(42): Show c.1137-2080_1137-2079insAAAAAAAAAAAAATATATATATA	PER3	ENSG00000049246.15	transcript	ENST00000377532.8	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
PER3_chr1_7779291_7850177	7806812	A A	AAAAAAAA others(16): Show AAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0157 a0001c0003t0001g0157	1	42	0.0238	23	c.113 others(42): Show c.1137-2080_1137-2079insAAAAAAATATATATATATATATA	PER3	ENSG00000049246.15	transcript	ENST00000377532.8	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
PER3_chr1_7779291_7850177	7815991	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00673.hp1 HG00741.hp1 others(13): Show HG00438.hp1 HG00673.hp1 HG00741.hp1 HG01361.hp2 HG01934.hp2 HG01975.hp2 HG01981.hp2 HG02027.hp1 HG02071.hp2 HG03927.hp2 NA18948.hp1 NA18954.hp2 NA18968.hp1 NA18975.hp1 NA19067.hp1 NA19074.hp2	a0001 a0006 a0001 a0006	a0001c0003 a0006c0010 a0001c0003 a0006c0010	a0001c0003t0001 a0001c0003t0004 a0006c0010t0001 a0001c0003t0001 a0001c0003t0004 a0006c0010t0001	a0001c0003t0001g0101 a0001c0003t0001g0104 a0001c0003t0001g0105 others(13): Show a0001c0003t0001g0101 a0001c0003t0001g0104 a0001c0003t0001g0105 a0001c0003t0001g0106 a0001c0003t0001g0117 a0001c0003t0001g0120 a0001c0003t0001g0123 a0001c0003t0001g0124 a0001c0003t0001g0128 a0001c0003t0001g0137 a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0154 a0001c0003t0004g0109 a0006c0010t0001g0102 a0006c0010t0001g0127	16	54	0.2963	23	c.152 others(42): Show c.1523-3290_1523-3268dupAAAAAAAAAAAAAAAAAAAAAAA	PER3	ENSG00000049246.15	transcript	ENST00000377532.8	protein_coding	13/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
PERP_chr6_138083505_138112419	138086310	A A	AAATATAT others(16): Show AAATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0080 a0001c0001t0080	a0001c0001t0080g0187 a0001c0001t0080g0187	1	419	0.0024	23	c.57 others(34): Show c.5731_*5732insATATATATATATATATATATATT	PERP	ENSG00000112378.12	transcript	ENST00000421351.4	protein_coding		2194		chr6	TogoVar
PEX10_chr1_2398974_2417564	2401241	T T	TTCCCCTC others(16): Show TTCCCCTCCCTCCTTCCTCCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG02074.hp2 NA19074.hp2 HG00544.hp2 HG02074.hp2 NA19074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0008 a0001c0002t0001g0008	3	328	0.0091	23	c.45 others(34): Show c.4524_*4525insGGAGGGAGGAAGGAGGGAGGGGA	PEX10	ENSG00000157911.11	transcript	ENST00000447513.7	protein_coding		2732		chr1	TogoVar
PEX10_chr1_2398974_2417564	2401252	T T	TTCCTCCC others(16): Show TTCCTCCCTCCTCCTCCTCCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	1	86	0.0116	23	c.45 others(34): Show c.4513_*4514insGGAGGGAGGAGGAGGAGGGAGGA	PEX10	ENSG00000157911.11	transcript	ENST00000447513.7	protein_coding		2721		chr1	TogoVar
PEX10_chr1_2398974_2417564	2412624	G G	GGGCGGGG others(16): Show GGGCGGGGCCGGACTGGGGCTGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG03209.hp2 HG06807.hp2 HG02886.hp1 HG03209.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0018 a0001c0001t0001 a0001c0002t0018	a0001c0001t0001g0002 a0001c0002t0018g0125 a0001c0001t0001g0002 a0001c0002t0018g0125	3	356	0.0084	23	c.-14 others(32): Show c.-145_-123dupTCCAGCCCCAGTCCGGCCCCGCC	PEX10	ENSG00000157911.11	transcript	ENST00000447513.7	protein_coding		61		chr1	TogoVar
PEX5L_chr3_179789958_180041937	180024347	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0060 a0001c0001t0005g0060	1	112	0.0089	23	c.21+ others(40): Show c.21+12231_21+12232insATATATATATATATATATATATA	PEX5L	ENSG00000114757.19	transcript	ENST00000467460.6	protein_coding	1/14			chr3	TogoVar
PEX5_chr12_7184686_7216459	7196753	T T	TAATGTAA others(16): Show TAATGTAATAATTATATATGTCAC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0227 a0001c0001t0002g0227	1	333	0.0030	23	c.449 others(40): Show c.449-2257_449-2256insATGTAATAATTATATATGTCACA	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX5_chr12_7184686_7216459	7196874	A A	ATATGTCA others(16): Show ATATGTCACATATAATGTAATAAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0254 a0001c0001t0002g0254	1	426	0.0023	23	c.449 others(40): Show c.449-2134_449-2133insGTCACATATAATGTAATAATTAT	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX5_chr12_7184686_7216459	7196901	A A	ATATGTCA others(16): Show ATATGTCACATATAATGTAATAAT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	426	0.0023	23	c.449 others(40): Show c.449-2107_449-2106insGTCACATATAATGTAATAATTAT	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX5_chr12_7184686_7216459	7197232	T T	TATGTAAT others(16): Show TATGTAATAATTATGTCATATATA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0295 a0002c0002t0005g0295	1	401	0.0025	23	c.449 others(40): Show c.449-1766_449-1765insGTCATATATAATGTAATAATTAT	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX5_chr12_7184686_7216459	7197291	A A	ATATGTCA others(16): Show ATATGTCATATATAATGTAATAAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0213 a0001c0001t0004g0213	1	426	0.0023	23	c.449 others(40): Show c.449-1717_449-1716insGTCATATATAATGTAATAATTAT	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX5_chr12_7184686_7216459	7197316	T T	TTATATAT others(16): Show TTATATATGTCATATAATGTAATC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp2 HG00642.hp1 others(45): Show HG00099.hp1 HG00438.hp2 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG01099.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG02132.hp2 HG02148.hp2 HG02257.hp2 HG02602.hp1 HG02602.hp2 HG02698.hp2 HG02738.hp2 HG02976.hp2 HG03017.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04228.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18949.hp1 NA18952.hp2 NA18954.hp2 NA18962.hp2 NA18964.hp2 NA18968.hp1 NA18972.hp1 NA18973.hp1 NA18975.hp2 NA18983.hp2 NA18989.hp2 NA18994.hp1 NA18994.hp2 NA19005.hp2 NA19011.hp2 NA19064.hp2 NA19066.hp2 NA19074.hp2 NA19075.hp1 NA19076.hp2 NA19078.hp1 NA19085.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0003 a0001c0001t0013 a0003c0004t0003 a0001c0001t0003 a0001c0001t0013 a0003c0004t0003	a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0013 others(28): Show a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0013 a0001c0001t0003g0019 a0001c0001t0003g0030 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0172 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0194 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0013g0187 a0003c0004t0003g0281	48	421	0.1140	23	c.449 others(40): Show c.449-1695_449-1694insTATATATGTCATATAATGTAATC	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15			chr12	TogoVar

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