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
PCGF3_chr4_700832_775089	759593	T T	TCCCGAGT others(41): Show TCCCGAGTTCTCCCTCCAGACTCCGGGTCTTTCCCCGCACGGCCCCTCC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00673.hp1 HG00741.hp2 others(12): Show HG00280.hp2 HG00673.hp1 HG00741.hp2 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG02135.hp2 HG02735.hp1 HG03710.hp2 HG03942.hp2 NA18944.hp1 NA18964.hp2 NA18966.hp1 NA18986.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0013 a0001c0001t0030 others(2): Show a0001c0001t0006 a0001c0001t0013 a0001c0001t0030 a0001c0001t0031 a0001c0001t0067	a0001c0001t0006g0007 a0001c0001t0006g0085 a0001c0001t0006g0086 others(12): Show a0001c0001t0006g0007 a0001c0001t0006g0085 a0001c0001t0006g0086 a0001c0001t0006g0093 a0001c0001t0006g0094 a0001c0001t0006g0103 a0001c0001t0006g0104 a0001c0001t0006g0105 a0001c0001t0006g0107 a0001c0001t0006g0114 a0001c0001t0006g0146 a0001c0001t0013g0172 a0001c0001t0030g0112 a0001c0001t0031g0110 a0001c0001t0067g0147	15	343	0.0437	48	c.463 others(65): Show c.463-1676_463-1675insCCCTCCAGACTCCGGGTCTTTCCCCGCA CGGCCCCTCCCCCGAGTTCT	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCLAF_chr15_64359304_64386441	64362768	A A	ATTTTTTT others(41): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0246 a0001c0001t0018g0246	1	62	0.0161	48	c.32 others(59): Show c.3261_*3262insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAA	PCLAF	ENSG00000166803.14	transcript	ENST00000300035.9	protein_coding		1535		chr15	TogoVar
PCMT1_chr6_149744741_149816419	149762956	G G	GTATATCT others(41): Show GTATATCTATGATATATATGATATATATATCTATGATATATATGATATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01192.hp1 HG03710.hp2 HG01109.hp2 HG01192.hp1 HG03710.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0054 a0002c0002t0002g0080 a0002c0002t0002g0087 a0002c0002t0002g0054 a0002c0002t0002g0080 a0002c0002t0002g0087	3	99	0.0303	48	c.56- others(63): Show c.56-8180_56-8133dupATATCTATGATATATATGATATATATATCT ATGATATATATGATATAT	PCMT1	ENSG00000120265.21	transcript	ENST00000464889.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
PCNX1_chr14_70902459_71120382	70910049	T T	TCCTCCTC others(41): Show TCCTCCTCCTCCCCCCCCTCCTCCCCCTCCTCCCCCTCCTCCTCCTCCC	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0017 a0017	a0017c0019 a0017c0019	a0017c0019t0008 a0017c0019t0008	a0017c0019t0008g0118 a0017c0019t0008g0118	1	301	0.0033	48	c.153 others(65): Show c.153+2057_153+2058insCCCCCCTCCTCCCCCTCCTCCCCCTCCT CCTCCTCCCCCTCCTCCTCC	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	70910064	C C	CCCTCCTC others(41): Show CCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCCCCTCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0010 a0010	a0010c0025 a0010c0025	a0010c0025t0004 a0010c0025t0004	a0010c0025t0004g0218 a0010c0025t0004g0218	1	257	0.0039	48	c.153 others(65): Show c.153+2069_153+2070insCCCTCCTCCCCCTCCTCCCCCTCCCCCT CCTCCTCCTCCTCCTCCTCC	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	70910103	T T	TCCTCCTC others(41): Show TCCTCCTCCTCCTCCTCCCCCCCCTCCTCCTCCCCCCCCTCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03041.hp1 HG02109.hp2 HG03041.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0008 a0006c0009t0015 a0006c0009t0008 a0006c0009t0015	a0006c0009t0008g0213 a0006c0009t0015g0145 a0006c0009t0008g0213 a0006c0009t0015g0145	2	316	0.0063	48	c.153 others(65): Show c.153+2105_153+2106insTCCTCCTCCTCCCCCCCCTCCTCCTCCC CCCCCTCCTCCTCCCCCTCC	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCP4_chr21_39862438_39934392	39914056	A A	ACCAAAGA others(41): Show ACCAAAGAGAATAAAGAGTATTCTTATTCTTTATTTAAATCAGACAGCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(355): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp2 NA18959.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18988.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(351): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0318 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0001t0001g0368 a0001c0001t0001g0369 a0001c0001t0001g0370 a0001c0001t0001g0371 a0001c0001t0001g0372 a0001c0001t0001g0373 a0001c0001t0001g0375 a0001c0001t0001g0376 a0001c0001t0001g0377 a0001c0001t0001g0378 a0001c0001t0001g0379 a0001c0001t0001g0380 a0001c0001t0001g0381 a0001c0001t0001g0383 a0001c0001t0001g0384 a0001c0001t0001g0385 a0001c0001t0001g0386 a0001c0001t0001g0387 a0001c0001t0001g0388 a0001c0001t0001g0389 a0001c0001t0001g0390 a0001c0001t0001g0392 a0001c0001t0001g0393 a0001c0001t0001g0394 a0001c0001t0001g0395 a0001c0001t0001g0397 a0001c0001t0001g0398 a0001c0001t0001g0399 a0001c0001t0001g0400 a0001c0001t0001g0401 a0001c0001t0001g0402 a0001c0001t0001g0405 a0001c0001t0001g0407 a0001c0001t0001g0408 a0001c0001t0001g0409 a0001c0001t0001g0410 a0001c0001t0001g0411 a0001c0001t0001g0412 a0001c0001t0001g0413 a0001c0001t0001g0414 a0001c0001t0001g0415 a0001c0001t0001g0416 a0001c0001t0001g0418 a0001c0001t0001g0419 a0001c0001t0001g0421 a0001c0001t0001g0422 a0001c0001t0001g0423 a0001c0001t0002g0023 a0001c0001t0002g0212 a0001c0001t0002g0279 a0001c0001t0002g0355 a0001c0001t0002g0364 a0001c0001t0002g0365 a0001c0001t0003g0007 a0001c0001t0003g0091 a0001c0001t0004g0347 a0001c0001t0004g0417 a0001c0001t0005g0001 a0001c0001t0006g0141 a0001c0001t0007g0354	358	425	0.8424	48	c.62- others(65): Show c.62-14907_62-14906insCTTATTCTTTATTTAAATCAGACAGCCC CAAAGAGAATAAAGAGTATT	PCP4	ENSG00000183036.11	transcript	ENST00000328619.10	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCSK5_chr9_75885673_76367975	76351523	A A	AGAAAGAA others(41): Show AGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01081.hp1 HG01346.hp1 HG00738.hp2 HG01081.hp1 HG01346.hp1	a0003 a0009 a0003 a0009	a0003c0005 a0009c0059 a0003c0005 a0009c0059	a0003c0005t0002 a0003c0005t0011 a0009c0059t0002 a0003c0005t0002 a0003c0005t0011 a0009c0059t0002	a0003c0005t0002g0100 a0003c0005t0011g0094 a0009c0059t0002g0141 a0003c0005t0002g0100 a0003c0005t0011g0094 a0009c0059t0002g0141	3	149	0.0201	48	c.506 others(65): Show c.5067+604_5067+605insAAAGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAAGAAAG	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	36/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCSK5_chr9_75885673_76367975	76351523	A A	AGAAAGAA others(41): Show AGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0009 a0009	a0009c0021 a0009c0021	a0009c0021t0002 a0009c0021t0002	a0009c0021t0002g0151 a0009c0021t0002g0151	1	147	0.0068	48	c.506 others(65): Show c.5067+602_5067+603insGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAAGAA	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	36/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCSK6_chr15_101298933_101494707	101412691	T T	TTATATAT others(41): Show TTATATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0041 a0001c0007t0001g0041	1	260	0.0038	48	c.824 others(67): Show c.824-14116_824-14115insTATATATATATATATATATATATATA TATATATATATATATATATATA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	6/21			chr15	TogoVar
PCSK7_chr11_117199337_117237073	117215380	G G	GTGTGTGT others(41): Show GTGTGTGTGTGTGTGTGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0002 a0004c0013t0002	a0004c0013t0002g0317 a0004c0013t0002g0317	1	167	0.0060	48	c.153 others(67): Show c.1534+3085_1534+3086insTATATATATATATATATATATATATA TATATACACACACACACACACA	PCSK7	ENSG00000160613.15	transcript	ENST00000320934.8	protein_coding	12/16			chr11	TogoVar
PCSK7_chr11_117199337_117237073	117215380	G G	GTGTGTGT others(41): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0176 a0001c0001t0007g0176	1	167	0.0060	48	c.153 others(67): Show c.1534+3085_1534+3086insTATACACACACACACACACACACACA CACACACACACACACACACACA	PCSK7	ENSG00000160613.15	transcript	ENST00000320934.8	protein_coding	12/16			chr11	TogoVar
PCYOX1L_chr5_149353046_149374653	149370033	T T	TTTTTTTT others(41): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	272	0.0037	48	c.13 others(59): Show c.1379_*1380insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTC	PCYOX1L	ENSG00000145882.11	transcript	ENST00000274569.9	protein_coding		381		chr5	TogoVar
PCYT1A_chr3_196229368_196292726	196250021	C C	CCAGATAC others(41): Show CCAGATACACCATGCTGAGGTTGAGTACCACATACACTATGCTGAGGAT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0162 a0001c0001t0014g0162	1	308	0.0032	48	c.218 others(65): Show c.218-1699_218-1698insATCCTCAGCATAGTGTATGTGGTACTCA ACCTCAGCATGGTGTATCTG	PCYT1A	ENSG00000161217.12	transcript	ENST00000431016.6	protein_coding	3/8			chr3	TogoVar
PC_chr11_66843420_66963383	66903791	T T	TATATACA others(41): Show TATATACACACACACACACCCACACACACCCACACACATATATACACAC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0111 a0001c0007t0001g0111	1	266	0.0038	48	c.1-3 others(63): Show c.1-31633_1-31632insGTGTGTATATATGTGTGTGGGTGTGTGTGG GTGTGTGTGTGTGTATAT	PC	ENSG00000173599.15	transcript	ENST00000393960.7	protein_coding	3/22			chr11	TogoVar
PDE10A_chr6_165322289_165668241	165422300	C C	CGCATACA others(41): Show CGCATACACACATACGCATATACACACACAGGCATACACACACACATAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01516.hp1 HG01192.hp1 HG01516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0119 a0001c0002t0006g0141 a0001c0002t0006g0119 a0001c0002t0006g0141	2	210	0.0095	48	c.165 others(67): Show c.1654-3571_1654-3524dupATATGTGTGTGTGTATGCCTGTGTGT GTATATGCGTATGTGTGTATGC	PDE10A	ENSG00000112541.19	transcript	ENST00000539869.4	protein_coding	10/21			chr6	TogoVar
PDE11A_chr2_177618244_178077777	177946493	C C	CTGGGAGG others(41): Show CTGGGAGGGAGGTGGCGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02818.hp2 HG02922.hp2 others(2): Show HG00735.hp2 HG02818.hp2 HG02922.hp2 HG02970.hp2 HG03453.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0005 a0001c0009 others(1): Show a0001c0003 a0001c0005 a0001c0009 a0002c0015	a0001c0003t0049 a0001c0003t0052 a0001c0005t0015 others(2): Show a0001c0003t0049 a0001c0003t0052 a0001c0005t0015 a0001c0009t0027 a0002c0015t0001	a0001c0003t0049g0143 a0001c0003t0052g0029 a0001c0005t0015g0012 others(2): Show a0001c0003t0049g0143 a0001c0003t0052g0029 a0001c0005t0015g0012 a0001c0009t0027g0001 a0002c0015t0001g0013	5	167	0.0299	48	c.107 others(69): Show c.1072-41307_1072-41306insACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCGCCACCTCCCTCCCA	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	2/19			chr2	TogoVar
PDE1A_chr2_182135041_182432036	182264878	C C	CATATATA others(41): Show CATATATATATATATATATATATATATGTATATATATACATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0002 a0001c0001t0014g0002	1	65	0.0154	48	c.54- others(61): Show c.54-465_54-464insATATATATATGTATATATATACATATATATAT ATATATATATATATAT	PDE1A	ENSG00000115252.19	transcript	ENST00000409365.6	protein_coding	1/14			chr2	TogoVar
PDE1C_chr7_31746179_32075407	31794089	C C	CAGACAGA others(41): Show CAGACAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0023 a0001c0023t0001g0023	1	134	0.0075	48	c.189 others(69): Show c.1891+14941_1891+14942insATCTATCTATCTATCTATCTATCT ATCTATCTATCTATCTATCTGTCT	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	16/17			chr7	TogoVar
PDE3A_chr12_20363537_20693583	20386144	T T	TATATATA others(41): Show TATATATAAATATATATAAATATATAAATATATATAAATATATATATAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0140 a0002c0002t0140	a0002c0002t0140g0085 a0002c0002t0140g0085	1	159	0.0063	48	c.960 others(67): Show c.960+15907_960+15908insAATATATATAAATATATAAATATATA TAAATATATATATAAATATATA	PDE3A	ENSG00000172572.7	transcript	ENST00000359062.4	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDE3B_chr11_14638804_14877044	14749899	C C	CATATATA others(41): Show CATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02155.hp2 HG01123.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0141 a0001c0001t0001g0111 a0001c0001t0001g0141	2	84	0.0238	48	c.979 others(67): Show c.979-22024_979-22023insATATATATATATATATATATATATAT ATATATATATATATATATATAT	PDE3B	ENSG00000152270.9	transcript	ENST00000282096.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
PDGFA_chr7_492258_524846	511390	A A	AAGGGGGA others(41): Show AAGGGGGACTTAGTCCAGGTGGGGCCAGTGGCTGGGGGAGGAGGGGGGG	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0224 a0001c0001t0008g0224	1	272	0.0037	48	c.266 others(63): Show c.266-395_266-394insCCCCCCCTCCTCCCCCAGCCACTGGCCCCA CCTGGACTAAGTCCCCCT	PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding	3/5			chr7	TogoVar
PDGFA_chr7_492258_524846	511400	C C	CTAGTCCA others(41): Show CTAGTCCAGGTGGGGCCAGAGGCTGGGGGTGGCGGGGGGAAGGGGGACT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03098.hp1 HG02109.hp1 HG03098.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0008 a0001c0002 a0002c0008	a0001c0002t0055 a0002c0008t0104 a0001c0002t0055 a0002c0008t0104	a0001c0002t0055g0018 a0002c0008t0104g0143 a0001c0002t0055g0018 a0002c0008t0104g0143	2	267	0.0075	48	c.266 others(63): Show c.266-405_266-404insAGTCCCCCTTCCCCCCGCCACCCCCAGCCT CTGGCCCCACCTGGACTA	PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding	3/5			chr7	TogoVar
PDGFB_chr22_39218359_39249982	39220555	G G	GTGGATGG others(41): Show GTGGATGGATGGATGGATGGATGGATGGGCAGGTGGACAGGTGGATGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 NA19030.hp1 HG03516.hp2 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0023 a0001c0003t0017 a0001c0003t0023	a0001c0003t0017g0043 a0001c0003t0023g0075 a0001c0003t0017g0043 a0001c0003t0023g0075	2	95	0.0211	48	c.47 others(59): Show c.4786_*4787insTCCATCCACCTGTCCACCTGCCCATCCATCCATC CATCCATCCATCCA	PDGFB	ENSG00000100311.17	transcript	ENST00000331163.11	protein_coding		2803		chr22	TogoVar
PDGFC_chr4_156755454_156976799	156825590	T T	TAAGAAGA others(41): Show TAAGAAGAAGAAGAAGAAGAAGAAGAAGGAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0129 a0001c0001t0004g0129	1	126	0.0079	48	c.315 others(67): Show c.315-14574_315-14573insCTTCTTCTTCTTCTTCTTCTCCTTCT TCTTCTTCTTCTTCTTCTTCTT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	2/5			chr4	TogoVar
PDGFC_chr4_156755454_156976799	156825593	T T	TAAGAAGA others(41): Show TAAGAAGAAGAAGAAGAAGAAGAAGAAGGAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0128 a0001c0001t0004g0128	1	78	0.0128	48	c.315 others(67): Show c.315-14577_315-14576insCTTCTTCTTCTTCTTCTTCTCCTTCT TCTTCTTCTTCTTCTTCTTCTT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	2/5			chr4	TogoVar
PDGFD_chr11_103902189_104169147	103985078	T T	TATTTATT others(41): Show TATTTATTTAATATATAATATATTAATTTATTTAATATATAATATATTA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp2 HG02630.hp1 others(2): Show HG02109.hp2 HG02145.hp2 HG02630.hp1 HG02809.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0021 a0001c0002t0005 a0001c0001t0002 a0001c0001t0021 a0001c0002t0005	a0001c0001t0002g0109 a0001c0001t0021g0199 a0001c0002t0005g0094 others(2): Show a0001c0001t0002g0109 a0001c0001t0021g0199 a0001c0002t0005g0094 a0001c0002t0005g0108 a0001c0002t0005g0188	5	96	0.0521	48	c.510 others(67): Show c.510+10986_510+10987insTAATATATTATATATTAAATAAATTA ATATATTATATATTAAATAAAT	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	3/6			chr11	TogoVar
PDGFD_chr11_103902189_104169147	103985078	T T	TATTTATT others(41): Show TATTTATTTAATATATAATATATTAATTTATTTAATATATTATATATTA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00621.hp1 others(44): Show HG00408.hp2 HG00423.hp2 HG00621.hp1 HG00621.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01123.hp2 HG01175.hp1 HG01361.hp1 HG01496.hp2 HG01928.hp1 HG01978.hp2 HG02040.hp2 HG02055.hp2 HG02129.hp1 HG02273.hp1 HG02273.hp2 HG02965.hp2 HG03130.hp1 HG03195.hp1 HG03490.hp2 HG03491.hp2 HG03516.hp1 HG03654.hp1 HG03688.hp1 HG04199.hp2 NA18949.hp1 NA18950.hp2 NA18957.hp1 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18972.hp1 NA18979.hp1 NA18980.hp2 NA18985.hp2 NA18990.hp1 NA18995.hp2 NA19002.hp2 NA19056.hp2 NA19063.hp2 NA19068.hp1 NA19077.hp2 NA19079.hp1 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0011 a0001c0002t0001 a0001c0002t0005 a0001c0002t0013 a0002c0003t0006	a0001c0001t0002g0008 a0001c0001t0002g0013 a0001c0001t0002g0035 others(44): Show a0001c0001t0002g0008 a0001c0001t0002g0013 a0001c0001t0002g0035 a0001c0001t0002g0038 a0001c0001t0002g0041 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0063 a0001c0001t0002g0098 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0115 a0001c0001t0002g0119 a0001c0001t0002g0125 a0001c0001t0002g0137 a0001c0001t0002g0151 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0162 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0183 a0001c0001t0003g0027 a0001c0001t0003g0095 a0001c0001t0003g0140 a0001c0001t0003g0152 a0001c0001t0010g0067 a0001c0001t0011g0081 a0001c0002t0001g0012 a0001c0002t0001g0017 a0001c0002t0001g0030 a0001c0002t0001g0036 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0045 a0001c0002t0001g0058 a0001c0002t0001g0080 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0005g0002 a0001c0002t0013g0069 a0001c0002t0013g0071 a0002c0003t0006g0015	47	138	0.3406	48	c.510 others(67): Show c.510+10986_510+10987insTAATATATAATATATTAAATAAATTA ATATATTATATATTAAATAAAT	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	3/6			chr11	TogoVar
PDGFD_chr11_103902189_104169147	103985118	A A	AATATATT others(41): Show AATATATTAATTTATTTAATATATAATATATTAATTTATTTAATATATT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0179 a0001c0002t0001g0179	1	194	0.0052	48	c.510 others(67): Show c.510+10946_510+10947insAATATATTAAATAAATTAATATATTA TATATTAAATAAATTAATATAT	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	3/6			chr11	TogoVar
PDGFD_chr11_103902189_104169147	104084787	A A	ATATAAAA others(41): Show ATATAAAATATATTTTATAAGTATTATAAAATATATATTTTATAAGTAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0183 a0001c0001t0002g0183	1	92	0.0109	48	c.124 others(67): Show c.124+79016_124+79017insATACTTATAAAATATATATTTTATAA TACTTATAAAATATATTTTATA	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDGFD_chr11_103902189_104169147	104119390	A A	ATATTGAT others(41): Show ATATTGATATAATATATAATATAATATATTGATATAATATATAATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01361.hp2 HG03041.hp1 HG01255.hp1 HG01361.hp2 HG03041.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0003 a0003c0005 a0001c0002 a0002c0003 a0003c0005	a0001c0002t0001 a0002c0003t0006 a0003c0005t0002 a0001c0002t0001 a0002c0003t0006 a0003c0005t0002	a0001c0002t0001g0076 a0002c0003t0006g0182 a0003c0005t0002g0187 a0001c0002t0001g0076 a0002c0003t0006g0182 a0003c0005t0002g0187	3	72	0.0417	48	c.124 others(67): Show c.124+44413_124+44414insATATATTATATATTATATCAATATAT TATATTATATATTATATCAATA	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDIA6_chr2_10778391_10817785	10806628	C C	CAGACAGA others(41): Show CAGACAGACAGACAGACAGACAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03490.hp2 HG03654.hp1 others(1): Show HG03239.hp1 HG03490.hp2 HG03654.hp1 NA19005.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0016 a0001c0005t0003 a0001c0003t0016 a0001c0005t0003	a0001c0003t0016g0283 a0001c0005t0003g0128 a0001c0005t0003g0129 others(1): Show a0001c0003t0016g0283 a0001c0005t0003g0128 a0001c0005t0003g0129 a0001c0005t0003g0137	4	205	0.0195	48	c.20- others(63): Show c.20-3989_20-3988insTTCTTTCTTTCTTTCTTTCTTTCTTTCTGT CTGTCTGTCTGTCTGTCT	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PDIA6_chr2_10778391_10817785	10806628	C C	CAGACAGA others(41): Show CAGACAGACAGACAGACAGACAGACAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0126 a0001c0005t0003g0126	1	202	0.0050	48	c.20- others(63): Show c.20-3989_20-3988insTTCTTTCTTTCTTTCTTTCTTTCTGTCTGT CTGTCTGTCTGTCTGTCT	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PDS5A_chr4_39817863_39982911	39842909	T T	TTATATAT others(41): Show TTATATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	21	0.0476	48	c.354 others(65): Show c.3549-854_3549-853insTATATATATATATATATATATATATATA TATATATATATATATATATA	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	30/32			chr4	TogoVar
PDXK_chr21_43714129_43767299	43741326	C C	CGGGGGGG others(41): Show CGGGGGGGCTGGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGGCTCGCG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0219 a0001c0001t0004g0219	1	303	0.0033	48	c.143 others(63): Show c.143-335_143-334insGCTGGCGGGGGGCTGGCGGGGGGGCTCGCG GGGGGGCTCGCGGGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDZD2_chr5_31634131_32115932	31689330	C C	CATATGCA others(41): Show CATATGCATATATATATATATACATATGCATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0004 a0004	a0004c0029 a0004c0029	a0004c0029t0049 a0004c0029t0049	a0004c0029t0049g0001 a0004c0029t0049g0001	1	211	0.0047	48	c.-36 others(69): Show c.-361+49897_-361+49898insGCATATATATATATATACATATGC ATATATATATATATATATATATAT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31689353	A A	ACATATGC others(41): Show ACATATGCATATATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0068 a0001c0001t0017g0068	1	30	0.0333	48	c.-36 others(69): Show c.-361+49916_-361+49917insCATATGCATATATATATATATATA TATATATATATATATATATATATT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24			chr5	TogoVar
PDZD2_chr5_31634131_32115932	31850261	C C	CATATATA others(41): Show CATATATATACTTATCATCTAGTTAATATATATATATATTTATATATCT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01069.hp1 HG01071.hp2 others(5): Show HG00280.hp1 HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01175.hp2 HG03669.hp2 HG03927.hp1 NA18964.hp1	a0001 a0002 a0031 a0001 a0002 a0031	a0001c0001 a0001c0022 a0002c0003 others(1): Show a0001c0001 a0001c0022 a0002c0003 a0031c0021	a0001c0001t0001 a0001c0001t0035 a0001c0022t0001 others(2): Show a0001c0001t0001 a0001c0001t0035 a0001c0022t0001 a0002c0003t0002 a0031c0021t0003	a0001c0001t0001g0134 a0001c0001t0001g0190 a0001c0001t0001g0191 others(5): Show a0001c0001t0001g0134 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0035g0140 a0001c0022t0001g0126 a0002c0003t0002g0081 a0002c0003t0002g0189 a0031c0021t0003g0012	8	214	0.0374	48	c.476 others(67): Show c.476+50563_476+50564insATATATATATATTTATATATCTATAT ATATACTTATCATCTAGTTAAT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PEBP4_chr8_22708251_22932914	22878210	T T	TGGAGAGG others(41): Show TGGAGAGGGAGGGGGAGAGGGAGGGGGAGAGGGAGGGGGAGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0006 a0001c0005t0005g0006	1	191	0.0052	48	c.258 others(67): Show c.258+41973_258+41974insCCCTCCCTCTCCCCCTCCCTCTCCCC CTCCCTCTCCCCCTCCCTCTCC	PEBP4	ENSG00000134020.8	transcript	ENST00000256404.8	protein_coding	3/6			chr8	TogoVar
PECAM1_chr17_64314415_64395860	64377617	A A	AAAGGAAG others(41): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01255.hp2 HG02572.hp1 others(7): Show HG01168.hp2 HG01255.hp2 HG02572.hp1 HG03710.hp2 NA18942.hp2 NA18966.hp1 NA18966.hp2 NA19003.hp1 NA19005.hp1 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0019 a0001c0001 a0003c0019	a0001c0001t0001 a0003c0019t0003 a0001c0001t0001 a0003c0019t0003	a0001c0001t0001g0035 a0001c0001t0001g0182 a0001c0001t0001g0183 others(7): Show a0001c0001t0001g0035 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0252 a0001c0001t0001g0253 a0003c0019t0003g0096	10	152	0.0658	48	c.385 others(63): Show c.385+206_385+207insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTT	PECAM1	ENSG00000261371.6	transcript	ENST00000563924.6	protein_coding	3/15			chr17	TogoVar
PERCC1_chr16_1426078_1439441	1429071	C C	CCTGGGCT others(41): Show CCTGGGCTGTGGGCTCCCTGGGCTATGGGGTCACCTGGCTGTGGGGTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(294): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18974.hp1 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19074.hp1 NA19074.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009	a0001c0001 a0001c0003 a0001c0006 others(8): Show a0001c0001 a0001c0003 a0001c0006 a0001c0011 a0002c0004 a0003c0005 a0004c0008 a0005c0013 a0007c0012 a0008c0007 a0009c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(42): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0048 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0003t0029 a0001c0006t0001 a0001c0011t0001 a0002c0004t0001 a0002c0004t0049 a0003c0005t0005 a0003c0005t0006 a0004c0008t0001 a0005c0013t0010 a0007c0012t0040 a0008c0007t0001 a0009c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(66): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0030 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0039 a0001c0001t0003g0002 a0001c0001t0003g0006 a0001c0001t0004g0002 a0001c0001t0004g0006 a0001c0001t0005g0002 a0001c0001t0005g0013 a0001c0001t0005g0018 a0001c0001t0005g0035 a0001c0001t0006g0001 a0001c0001t0006g0002 a0001c0001t0006g0005 a0001c0001t0006g0006 a0001c0001t0006g0029 a0001c0001t0008g0002 a0001c0001t0010g0002 a0001c0001t0010g0014 a0001c0001t0011g0001 a0001c0001t0012g0002 a0001c0001t0012g0006 a0001c0001t0013g0001 a0001c0001t0015g0002 a0001c0001t0016g0002 a0001c0001t0017g0014 a0001c0001t0017g0034 a0001c0001t0018g0011 a0001c0001t0019g0001 a0001c0001t0020g0001 a0001c0001t0023g0002 a0001c0001t0024g0018 a0001c0001t0024g0028 a0001c0001t0025g0002 a0001c0001t0026g0002 a0001c0001t0027g0001 a0001c0001t0028g0002 a0001c0001t0030g0001 a0001c0001t0042g0002 a0001c0001t0043g0002 a0001c0001t0044g0002 a0001c0001t0045g0002 a0001c0001t0048g0002 a0001c0001t0050g0005 a0001c0001t0051g0001 a0001c0001t0052g0002 a0001c0001t0053g0002 a0001c0003t0029g0006 a0001c0006t0001g0001 a0001c0011t0001g0018 a0002c0004t0001g0001 a0002c0004t0001g0037 a0002c0004t0049g0001 a0003c0005t0005g0006 a0003c0005t0006g0006 a0004c0008t0001g0001 a0005c0013t0010g0002 a0007c0012t0040g0017 a0008c0007t0001g0041 a0009c0009t0001g0001	297	376	0.7899	48	c.-20 others(59): Show c.-2085_-2084insCTGGGCTGTGGGCTCCCTGGGCTATGGGGTCACC TGGCTGTGGGGTCA	PERCC1	ENSG00000284395.2	transcript	ENST00000640283.2	protein_coding		2006		chr16	TogoVar
PEX2_chr8_76975258_77005078	76996967	G G	GTAGAATG others(41): Show GTAGAATGGAATTTATGCTAAGCTCATCAAAATTTAGATCATCAGAACT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0084 a0001c0002t0005g0084	1	410	0.0024	48	c.-16 others(67): Show c.-160+3022_-160+3023insAGTTCTGATGATCTAAATTTTGATGA GCTTAGCATAAATTCCATTCTA	PEX2	ENSG00000164751.15	transcript	ENST00000357039.9	protein_coding	1/3			chr8	TogoVar
PEX5_chr12_7184686_7216459	7196999	A A	ATAATTAT others(41): Show ATAATTATATATGTCACATATAATGTAATTATATATGTCACATATAATG	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA19010.hp2 HG02027.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0262 a0001c0001t0002g0039 a0001c0001t0002g0262	2	410	0.0049	48	c.449 others(65): Show c.449-1948_449-1901dupCATATAATGTAATTATATATGTCACATA TAATGTAATTATATATGTCA	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX5_chr12_7184686_7216459	7197144	A A	ATAATTAT others(41): Show ATAATTATATATGTCATATATAATGTAATTATATATGTCATATATAATG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00544.hp1 others(64): Show HG00280.hp2 HG00408.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00673.hp1 HG00673.hp2 HG00741.hp1 HG01346.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01943.hp1 HG01952.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp1 HG02080.hp1 HG02132.hp1 HG02155.hp2 HG02165.hp1 HG02523.hp1 HG02572.hp1 HG02630.hp2 HG03130.hp1 HG03540.hp1 HG03927.hp1 NA18612.hp1 NA18940.hp2 NA18941.hp2 NA18944.hp2 NA18948.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp2 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18965.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18979.hp1 NA18981.hp2 NA18983.hp1 NA18986.hp2 NA18988.hp1 NA18989.hp1 NA19003.hp2 NA19004.hp1 NA19009.hp2 NA19010.hp2 NA19012.hp1 NA19063.hp2 NA19064.hp1 NA19067.hp2 NA19070.hp1 NA19076.hp1 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0016 a0001c0011t0002	a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0020 others(39): Show a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0020 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0045 a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0223 a0001c0001t0002g0227 a0001c0001t0002g0230 a0001c0001t0002g0233 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0276 a0001c0001t0004g0001 a0001c0001t0006g0002 a0001c0001t0006g0054 a0001c0001t0006g0055 a0001c0001t0016g0001 a0001c0011t0002g0001	67	390	0.1718	48	c.449 others(65): Show c.449-1824_449-1777dupATAATGTAATTATATATGTCATATATAA TGTAATTATATATGTCATAT	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX5_chr12_7184686_7216459	7197257	A A	AATAATTA others(41): Show AATAATTATATATGTCATATATAATGTAATAATTATATATGTCATATAC	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0248 a0001c0001t0002g0248	1	426	0.0023	48	c.449 others(65): Show c.449-1707_449-1706insCATAATTATATATGTCATATATAATGTA ATAATTATATATGTCATATA	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX5_chr12_7184686_7216459	7197264	A A	ATGTCATA others(41): Show ATGTCATATATAATGTAATAATTATATATGTCATATATAATGTAATAAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01070.hp2 HG01346.hp2 others(4): Show HG00621.hp2 HG01070.hp2 HG01346.hp2 HG03453.hp1 HG03654.hp2 HG03831.hp2 HG03942.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0005 a0002c0002t0005 a0003c0004t0005 a0001c0001t0005 a0002c0002t0005 a0003c0004t0005	a0001c0001t0005g0197 a0001c0001t0005g0199 a0002c0002t0005g0282 others(4): Show a0001c0001t0005g0197 a0001c0001t0005g0199 a0002c0002t0005g0282 a0002c0002t0005g0285 a0002c0002t0005g0287 a0002c0002t0005g0289 a0003c0004t0005g0286	7	422	0.0166	48	c.449 others(65): Show c.449-1746_449-1745insGTCATATATAATGTAATAATTATATATG TCATATATAATGTAATAATT	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX5_chr12_7184686_7216459	7197264	A A	ATGTCATA others(41): Show ATGTCATATATAATGTAATAATTATGTATGTCATATATAATGTAATAAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0196 a0001c0001t0005g0196	1	416	0.0024	48	c.449 others(65): Show c.449-1746_449-1745insGTCATATATAATGTAATAATTATGTATG TCATATATAATGTAATAATT	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX5_chr12_7184686_7216459	7197366	T T	TATATATG others(41): Show TATATATGTCATATACGATGTAATAATTATATATGTCATATACAATGTA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02647.hp1 HG03453.hp2 others(1): Show HG01243.hp1 HG02647.hp1 HG03453.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0209 a0001c0001t0004g0210 a0001c0001t0004g0211 others(1): Show a0001c0001t0004g0209 a0001c0001t0004g0210 a0001c0001t0004g0211 a0001c0001t0004g0212	4	426	0.0094	48	c.449 others(65): Show c.449-1630_449-1629insGATGTAATAATTATATATGTCATATACA ATGTAATATATGTCATATAC	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PFKP_chr10_3062548_3141802	3062574	C C	CTCATTCA others(41): Show CTCATTCATTCATTCACTCACTCACTCATTCACTCACTCATTCACCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02717.hp2 HG02970.hp1 others(2): Show HG02451.hp1 HG02717.hp2 HG02970.hp1 HG03471.hp1 NA18906.hp1	a0001 a0001	a0001c0004 a0001c0008 a0001c0017 others(2): Show a0001c0004 a0001c0008 a0001c0017 a0001c0026 a0001c0045	a0001c0004t0004 a0001c0008t0005 a0001c0017t0010 others(2): Show a0001c0004t0004 a0001c0008t0005 a0001c0017t0010 a0001c0026t0001 a0001c0045t0003	a0001c0004t0004g0358 a0001c0008t0005g0400 a0001c0017t0010g0359 others(2): Show a0001c0004t0004g0358 a0001c0008t0005g0400 a0001c0017t0010g0359 a0001c0026t0001g0399 a0001c0045t0003g0363	5	139	0.0360	48	c.-50 others(59): Show c.-5022_-5021insTCATTCATTCATTCACTCACTCACTCATTCACTC ACTCATTCACCTCT	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding		4973		chr10	TogoVar
PFKP_chr10_3062548_3141802	3084693	C C	CAGTCCTC others(41): Show CAGTCCTCCAGCCCCTCCCCAGCACAGTCCTCCAGCCCCTCCCCAGGAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG02559.hp1 others(5): Show HG00099.hp1 HG00099.hp2 HG02559.hp1 HG02602.hp2 HG03654.hp1 HG03710.hp2 HG04199.hp1 HG04204.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0005 a0001c0007 others(1): Show a0001c0002 a0001c0005 a0001c0007 a0002c0013	a0001c0002t0004 a0001c0005t0002 a0001c0005t0007 others(2): Show a0001c0002t0004 a0001c0005t0002 a0001c0005t0007 a0001c0007t0005 a0002c0013t0004	a0001c0002t0004g0103 a0001c0002t0004g0184 a0001c0005t0002g0005 others(5): Show a0001c0002t0004g0103 a0001c0002t0004g0184 a0001c0005t0002g0005 a0001c0005t0002g0329 a0001c0005t0007g0033 a0001c0007t0005g0032 a0002c0013t0004g0006 a0002c0013t0004g0027	8	119	0.0672	48	c.186 others(65): Show c.186+2253_186+2254insCACAGTCCTCCAGCCCCTCCCCAGGAGA GTCCTCCAGCCCCTCCCCAG	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar

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