Joint Open Genome and Omics Platform (JoGo)

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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
PFKFB3_chr10_6197932_6240532	6210533	T T	TGTGTTTT others(193): Show TGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGAT AGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATGGTCTTGAT AGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGAT AGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATGGTCTTGAT A	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18947.hp1 NA18998.hp1 HG00558.hp1 NA18947.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0260 a0001c0001t0002g0253 a0001c0001t0002g0314 a0001c0001t0001g0260 a0001c0001t0002g0253 a0001c0001t0002g0314	3	320	0.0094	200	c.77- others(215): Show c.77-3000_77-2999insGGTCTTGATAGTGTTTTTAATAGACGGGGT TTCGCCATGTTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGT TTCGCCATGTTAGCCAGGATGGTCTTGATAGTGTTTTTAATAGACGGGGT TTCGCCATGTTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGT TTCGCCATGTTAGCCAGGAT	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
PGAM5_chr12_132705842_132727734	132718447	T T	TGGGGTGT others(193): Show TGGGGTGTGTGCTGGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGG GGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGAGTGGGGTGCGT GCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGGTCCTG GGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCATGCTGGGT G	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0142 a0001c0002t0004g0142	1	374	0.0027	200	c.719 others(215): Show c.719+331_719+332insTGTGTGCTGGGTGGGGGGTCCTGGGTGGGG TGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTC CTGAGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTG GGTGGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTG GGGTGCATGCTGGGTGGGGG	PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
PGAM5_chr12_132705842_132727734	132727539	C C	CGCCCGGG others(193): Show CGCCCGGGCGGAGGAGAGGCATTGCTGAACCCTGGCACCGCGGGCACATG CGCCCGGACGGAGGAGACGCACTGCTGAACCCTGGCACCGTGGGCACACG CGCCCAGGCGGAGGAGAGGCACTGCTGAACCCTGGCACCACGGGCACACG CGCCCGGATGGAGGAGATGCACTGCTGAACCCTGGTACCGTGGGCACACG T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03471.hp2 NA19043.hp1 HG03139.hp2 HG03471.hp2 NA19043.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0057 a0001c0004t0008g0058 a0001c0004t0008g0059 a0001c0004t0008g0057 a0001c0004t0008g0058 a0001c0004t0008g0059	3	133	0.0226	200	c.67 others(211): Show c.6711_*6712insGCCCGGGCGGAGGAGAGGCATTGCTGAACCCTGG CACCGCGGGCACATGCGCCCGGACGGAGGAGACGCACTGCTGAACCCTGG CACCGTGGGCACACGCGCCCAGGCGGAGGAGAGGCACTGCTGAACCCTGG CACCACGGGCACACGCGCCCGGATGGAGGAGATGCACTGCTGAACCCTGG TACCGTGGGCACACGT	PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding		4806		chr12	TogoVar
PGAM5_chr12_132705842_132727734	132727539	C C	CGCCCGGG others(193): Show CGCCCGGGCGGAGGAGAGGCATTGCTGAACCCTGGCACCGCGGGCACATG CGCCCGGACGGAGGAGACGCACTGCTGAACCCTGGCACCGTGGGCACACG CGCCCGGGCGGAGGAGAGGCACTGCTGAACCCTGGCACCGCGGGCACACG CGCCCGGATGGAGGAGATGCACTGCTGAACCCTGGCACCGTGGGCACACG T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00544.hp2 HG00639.hp1 others(98): Show HG00280.hp2 HG00544.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01243.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01496.hp2 HG01517.hp1 HG01884.hp2 HG01934.hp1 HG01981.hp2 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02293.hp2 HG02523.hp1 HG02602.hp2 HG02683.hp1 HG02738.hp2 HG02809.hp1 HG02965.hp1 HG03017.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18906.hp1 NA18939.hp2 NA18942.hp2 NA18947.hp2 NA18952.hp2 NA18954.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18962.hp1 NA18966.hp1 NA18967.hp1 NA18969.hp2 NA18979.hp2 NA18982.hp2 NA18986.hp2 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18998.hp2 NA19000.hp1 NA19002.hp2 NA19004.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19058.hp1 NA19064.hp1 NA19065.hp2 NA19067.hp1 NA19080.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19088.hp1 NA19091.hp1 NA20129.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0003c0009	a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 others(17): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0012 a0001c0001t0017 a0001c0001t0030 a0001c0001t0031 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0044 a0001c0001t0045 a0001c0002t0004 a0001c0002t0016 a0001c0002t0029 a0001c0002t0041 a0001c0002t0042 a0001c0002t0043 a0001c0007t0004 a0003c0009t0003	a0001c0001t0003g0003 a0001c0001t0003g0007 a0001c0001t0003g0013 others(69): Show a0001c0001t0003g0003 a0001c0001t0003g0007 a0001c0001t0003g0013 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0177 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0004g0019 a0001c0001t0004g0141 a0001c0001t0011g0178 a0001c0001t0012g0176 a0001c0001t0012g0180 a0001c0001t0017g0170 a0001c0001t0017g0206 a0001c0001t0030g0003 a0001c0001t0031g0013 a0001c0001t0038g0113 a0001c0001t0039g0112 a0001c0001t0040g0179 a0001c0001t0044g0187 a0001c0001t0045g0003 a0001c0002t0004g0019 a0001c0002t0004g0026 a0001c0002t0004g0048 a0001c0002t0004g0140 a0001c0002t0004g0142 a0001c0002t0004g0143 a0001c0002t0004g0145 a0001c0002t0004g0214 a0001c0002t0004g0215 a0001c0002t0004g0217 a0001c0002t0004g0218 a0001c0002t0004g0219 a0001c0002t0004g0220 a0001c0002t0016g0138 a0001c0002t0029g0063 a0001c0002t0041g0167 a0001c0002t0042g0221 a0001c0002t0043g0216 a0001c0007t0004g0144 a0003c0009t0003g0175	101	231	0.4372	200	c.67 others(211): Show c.6711_*6712insGCCCGGGCGGAGGAGAGGCATTGCTGAACCCTGG CACCGCGGGCACATGCGCCCGGACGGAGGAGACGCACTGCTGAACCCTGG CACCGTGGGCACACGCGCCCGGGCGGAGGAGAGGCACTGCTGAACCCTGG CACCGCGGGCACACGCGCCCGGATGGAGGAGATGCACTGCTGAACCCTGG CACCGTGGGCACACGT	PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding		4806		chr12	TogoVar
PGAM5_chr12_132705842_132727734	132727539	C C	CGCCCGGG others(193): Show CGCCCGGGCGGAGGAGAGGCATTGCTGAACCCTGGCACCGCGGGCACATG CGCCCGGACGGAGGAGACGCACTGCTGAACCCTGGCACCGTGGGCACACG CGCCCGGGCGGAGGAGAGGCACTGCTGAACCCTGGCACCGCGGGCACACG CGCCCGGATGGAGGAGATGCACTGCTGAACCCTGGTACCGTGGGCACACG T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01243.hp1 HG02630.hp1 others(6): Show HG01109.hp2 HG01243.hp1 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02896.hp1 HG02897.hp2 HG03225.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0014 a0001c0001t0008 a0001c0001t0014	a0001c0001t0008g0029 a0001c0001t0008g0052 a0001c0001t0008g0053 others(5): Show a0001c0001t0008g0029 a0001c0001t0008g0052 a0001c0001t0008g0053 a0001c0001t0008g0054 a0001c0001t0008g0055 a0001c0001t0008g0056 a0001c0001t0014g0050 a0001c0001t0014g0051	9	139	0.0647	200	c.67 others(211): Show c.6711_*6712insGCCCGGGCGGAGGAGAGGCATTGCTGAACCCTGG CACCGCGGGCACATGCGCCCGGACGGAGGAGACGCACTGCTGAACCCTGG CACCGTGGGCACACGCGCCCGGGCGGAGGAGAGGCACTGCTGAACCCTGG CACCGCGGGCACACGCGCCCGGATGGAGGAGATGCACTGCTGAACCCTGG TACCGTGGGCACACGT	PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding		4806		chr12	TogoVar
PGAM5_chr12_132705842_132727734	132727539	C C	CGCCCGGG others(193): Show CGCCCGGGCGGAGGAGAGGCATTGCTGAACCCTGGCACCGCGGGCACATG CGCCCGGACGGAGGAGACGCACTGCTGAACCCTGGCACCGTGGGCACACG CGCCCGGGCGGAGGAGAGGCACTGCTGAACCCTGGCACCGTGGGCACACG CGCCCGGATGGAGGAGATGCACTGCTGAACCCTGGCACCGTGGGCACACG T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00408.hp1 others(140): Show HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00673.hp1 HG00733.hp2 HG00741.hp1 HG01106.hp2 HG01123.hp1 HG01192.hp2 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02630.hp2 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03540.hp1 HG03579.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19083.hp2 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp2 NA21309.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0004 a0002c0003 others(1): Show a0001c0001 a0001c0004 a0002c0003 a0004c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(18): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0004t0018 a0002c0003t0006 a0002c0003t0019 a0002c0003t0020 a0004c0006t0007	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(69): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0028 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0003g0169 a0001c0001t0006g0024 a0001c0001t0006g0109 a0001c0001t0006g0110 a0001c0001t0006g0111 a0001c0001t0006g0146 a0001c0001t0006g0147 a0001c0001t0006g0154 a0001c0001t0006g0168 a0001c0001t0007g0006 a0001c0001t0007g0010 a0001c0001t0007g0043 a0001c0001t0007g0078 a0001c0001t0007g0125 a0001c0001t0010g0025 a0001c0001t0010g0120 a0001c0001t0013g0148 a0001c0001t0013g0151 a0001c0001t0022g0002 a0001c0001t0023g0002 a0001c0001t0024g0165 a0001c0001t0025g0134 a0001c0001t0026g0001 a0001c0001t0027g0123 a0001c0001t0028g0018 a0001c0001t0035g0043 a0001c0001t0036g0002 a0001c0001t0037g0116 a0001c0004t0018g0164 a0002c0003t0006g0027 a0002c0003t0006g0149 a0002c0003t0006g0152 a0002c0003t0006g0155 a0002c0003t0019g0153 a0002c0003t0020g0156 a0004c0006t0007g0049	143	273	0.5238	200	c.67 others(211): Show c.6711_*6712insGCCCGGGCGGAGGAGAGGCATTGCTGAACCCTGG CACCGCGGGCACATGCGCCCGGACGGAGGAGACGCACTGCTGAACCCTGG CACCGTGGGCACACGCGCCCGGGCGGAGGAGAGGCACTGCTGAACCCTGG CACCGTGGGCACACGCGCCCGGATGGAGGAGATGCACTGCTGAACCCTGG CACCGTGGGCACACGT	PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding		4806		chr12	TogoVar
PGAM5_chr12_132705842_132727734	132727539	C C	CGCCCGGG others(193): Show CGCCCGGGCGGAGGAGAGGCATTGCTGAACCCTGGCACCGCGGGCACATG CGCCCGGACGGAGGAGACGCACTGCTGAACCCTGGCACCGTGGGCACACG CGCCCGGGTGGAGGAGAGGCACTGCTGAACCCTGGCACCGCGGGCACACG CGCCCGGATGGAGGAGATGCACTGCTGAACCCTGGCACCGTGGGCACACG T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0047 a0001c0002t0004g0047	1	131	0.0076	200	c.67 others(211): Show c.6711_*6712insGCCCGGGCGGAGGAGAGGCATTGCTGAACCCTGG CACCGCGGGCACATGCGCCCGGACGGAGGAGACGCACTGCTGAACCCTGG CACCGTGGGCACACGCGCCCGGGTGGAGGAGAGGCACTGCTGAACCCTGG CACCGCGGGCACACGCGCCCGGATGGAGGAGATGCACTGCTGAACCCTGG CACCGTGGGCACACGT	PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding		4806		chr12	TogoVar
PGAM5_chr12_132705842_132727734	132727552	G G	GAGAGGCA others(193): Show GAGAGGCATTGCTGAACCCTGGCACCGCGGGCACATGCGCCCGGACGGAG GAGACGCACTGCTGAACCCTGGCACCGTGGGCACACGCGCCCGGGCGGAG GAGAGGCACTGCTGAACCCTGGCACCGTGGGCACACGCGCCCGGATGGAG GAGATGCACTGCTGAACCCTGGCACCGTGGGCACACGTGCCCGGGCGGAG A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0157 a0001c0001t0006g0157	1	392	0.0026	200	c.67 others(211): Show c.6724_*6725insAGAGGCATTGCTGAACCCTGGCACCGCGGGCACA TGCGCCCGGACGGAGGAGACGCACTGCTGAACCCTGGCACCGTGGGCACA CGCGCCCGGGCGGAGGAGAGGCACTGCTGAACCCTGGCACCGTGGGCACA CGCGCCCGGATGGAGGAGATGCACTGCTGAACCCTGGCACCGTGGGCACA CGTGCCCGGGCGGAGA	PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding		4819		chr12	TogoVar
PHACTR3_chr20_59599540_59852711	59822000	A A	AATCCCAC others(193): Show AATCCCACCCCTTCCCCAGCAATCCCACCCCTTCCCCAGCGATCCCACCC CTTCCCCAGCGATCCCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGC GATCCCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGCGATCCCACCC CTTCCCCAGCGATCCCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGC G	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0044	1	197	0.0051	200	c.132 others(221): Show c.1329-14486_1329-14485insAATCCCACCCCTTCCCCAGCGATC CCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGCGATCCCACCCCTTC CCCAGCGATCCCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGCGATC CCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGCGATCCCACCCCTTC CCCAGCGATCCCACCCCTTCCCCAGC	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHEX_chrX_22027325_22256310	22224947	A A	AATTATCA others(193): Show AATTATCATACAGCGCTGTATGATTTATTATCATACAGCGCTGTATGATT TATTATCATACAGCGCTGTATGATTTATTATCATACAGCGCTGTATGATT TATTATCATACAGCGCTGTATGATTTATTATCATACAGCGCTGTATGATT TATTATCATACAGCGCTGTATGATTTATTATCATACAGCGCTGTATGATT T	intron_variant intron_variant	MODIFIER	HG03831.hp1 NA18959.hp1 NA19002.hp2 HG03831.hp1 NA18959.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 a0001c0001t0001 a0001c0001t0006 a0001c0001t0013	a0001c0001t0001g0134 a0001c0001t0006g0183 a0001c0001t0013g0125 a0001c0001t0001g0134 a0001c0001t0006g0183 a0001c0001t0013g0125	3	5	0.6000	200	c.190 others(219): Show c.1900-1458_1900-1457insGCTGTATGATTTATTATCATACAGCG CTGTATGATTTATTATCATACAGCGCTGTATGATTTATTATCATACAGCG CTGTATGATTTATTATCATACAGCGCTGTATGATTTATTATCATACAGCG CTGTATGATTTATTATCATACAGCGCTGTATGATTTATTATCATACAGCG CTGTATGATTTATTATCATACAGC	PHEX	ENSG00000102174.10	transcript	ENST00000379374.5	protein_coding	18/21		INFO_REALIGN_3_PRIME	chrX	TogoVar
PIAS4_chr19_4002736_4044386	4011687	G G	GTGTGGGG others(193): Show GTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGCTGTGGGATGTGGAGGTG TGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGGT GTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGGTGTGTGGGGTGTGGAGG TGTGTTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAG C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01255.hp1 HG01515.hp2 others(1): Show HG01243.hp2 HG01255.hp1 HG01515.hp2 HG01517.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0023 a0001c0003t0002g0255 a0001c0003t0002g0256 a0001c0003t0002g0023 a0001c0003t0002g0255 a0001c0003t0002g0256	4	309	0.0129	200	c.28- others(215): Show c.28-1205_28-1204insCTGTGGGATGTGGAGGTGTGTGGGGTGTGG AGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGGTGTGTGGGGTGTG GAGGTGTGTTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGT GGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGCTGTGGGGTGTG GAGGTGTGTGGGGTGTGGAG	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PIAS4_chr19_4002736_4044386	4036102	A A	ACACAATC others(193): Show ACACAATCCATACAGTCCACAACATCACAGACACACATCCATATAGTCCA CACGCATCCATACAGTCCACACCATCACACGCACACATCCATACAGTCCA CACCATCACACACACTCATCTATACAGTCCACACCATCACACACACACAT CCATACAGTCCACACCATCACACACACACTCATCTATACAGTCCACACCA T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp1 others(80): Show HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG01069.hp1 HG01081.hp2 HG01106.hp1 HG01175.hp1 HG01175.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01433.hp2 HG01993.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02280.hp1 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG02630.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG03209.hp1 HG03239.hp2 HG03490.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp2 NA18942.hp1 NA18966.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18973.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18990.hp1 NA18990.hp2 NA19007.hp2 NA19059.hp1 NA19060.hp2 NA19079.hp1 NA19084.hp1 NA19089.hp1 NA19091.hp1 NA20752.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0001c0016	a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 others(8): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0002t0001 a0001c0002t0010 a0001c0002t0018 a0001c0009t0001 a0001c0016t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(65): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0164 a0001c0001t0001g0176 a0001c0001t0001g0184 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0215 a0001c0001t0001g0254 a0001c0001t0009g0073 a0001c0001t0009g0076 a0001c0001t0010g0087 a0001c0001t0013g0048 a0001c0001t0014g0081 a0001c0001t0016g0026 a0001c0002t0001g0047 a0001c0002t0001g0117 a0001c0002t0010g0115 a0001c0002t0018g0125 a0001c0009t0001g0004 a0001c0009t0001g0084 a0001c0009t0001g0085 a0001c0016t0001g0111	83	332	0.2500	200	c.114 others(219): Show c.1143-1272_1143-1271insCACAATCCATACAGTCCACAACATCA CAGACACACATCCATATAGTCCACACGCATCCATACAGTCCACACCATCA CACGCACACATCCATACAGTCCACACCATCACACACACTCATCTATACAG TCCACACCATCACACACACACATCCATACAGTCCACACCATCACACACAC ACTCATCTATACAGTCCACACCAT	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	9/10			chr19	TogoVar
PIK3C2B_chr1_204417633_204499805	204471058	C C	CATGGCTT others(193): Show CATGGCTTCACTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACAT GATGGCTTCACTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACAT GATGGCTTCACTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACAT GATGGCTTCACTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACAT G	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0238 a0001c0006t0004g0238	1	72	0.0139	200	c.-84 others(217): Show c.-84-1173_-84-1172insCATGTGAGAATACCAGTGAAGCCATCAT GTGAGAATACCAGTGAAGCCATCATGTGAGAATACCAGTGAAGCCATCAT GTGAGAATACCAGTGAAGCCATCATGTGAGAATACCAGTGAAGCCATCAT GTGAGAATACCAGTGAAGCCATCATGTGAGAATACCAGTGAAGCCATCAT GTGAGAATACCAGTGAAGCCAT	PIK3C2B	ENSG00000133056.14	transcript	ENST00000684373.1	protein_coding	1/32			chr1	TogoVar
PIK3C2B_chr1_204417633_204499805	204471093	T T	TTGGTATT others(193): Show TTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACATGATGGCTTCA CTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACATGATGGCTTCA CTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACATGATGGCTTCA CTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACATGATGGCTTCA C	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02004.hp2 HG02015.hp1 others(5): Show HG01346.hp2 HG02004.hp2 HG02015.hp1 HG02523.hp2 HG02572.hp1 NA18989.hp2 NA19002.hp2 NA19064.hp2	a0001 a0001	a0001c0004 a0001c0005 a0001c0013 a0001c0004 a0001c0005 a0001c0013	a0001c0004t0004 a0001c0005t0003 a0001c0013t0001 a0001c0004t0004 a0001c0005t0003 a0001c0013t0001	a0001c0004t0004g0126 a0001c0005t0003g0097 a0001c0005t0003g0104 others(5): Show a0001c0004t0004g0126 a0001c0005t0003g0097 a0001c0005t0003g0104 a0001c0005t0003g0105 a0001c0005t0003g0227 a0001c0013t0001g0102 a0001c0013t0001g0108 a0001c0013t0001g0256	8	226	0.0354	200	c.-84 others(217): Show c.-84-1407_-84-1208dupGTGAAGCCATCATGTGAGAATACCAGTG AAGCCATCATGTGAGAATACCAGTGAAGCCATCATGTGAGAATACCAGTG AAGCCATCATGTGAGAATACCAGTGAAGCCATCATGTGAGAATACCAGTG AAGCCATCATGTGAGAATACCAGTGAAGCCATCATGTGAGAATACCAGTG AAGCCATCATGTGAGAATACCA	PIK3C2B	ENSG00000133056.14	transcript	ENST00000684373.1	protein_coding	1/32			chr1	TogoVar
PIK3C2B_chr1_204417633_204499805	204471668	C C	CTGGTATT others(193): Show CTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACATGATGGCTTCA TTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACATGATGGCTTCA CTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACATGATGGCTTCA CTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACATGATGGCTTCA T	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0004 a0001c0036t0004	a0001c0036t0004g0271 a0001c0036t0004g0271	1	297	0.0034	200	c.-84 others(217): Show c.-84-1783_-84-1782insATGAAGCCATCATGTGAGAATACCAGTG AAGCCATCATGTGAGAATACCAGTGAAGCCATCATGTGAGAATACCAGTG AAGCCATCATGTGAGAATACCAGTGAAGCCATCATGTGAGAATACCAGTG AAGCCATCATGTGAGAATACCAATGAAGCCATCATGTGAGAATACCAGTG AAGCCATCATGTGAGAATACCA	PIK3C2B	ENSG00000133056.14	transcript	ENST00000684373.1	protein_coding	1/32			chr1	TogoVar
PIK3C2B_chr1_204417633_204499805	204471693	C C	CTGGTATT others(193): Show CTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACATGATGGCTTCA CTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACATGATGGCTTCA CTGGTATTCTCACATGATGGCTTCATTGGTATTCTCACATGATGGCTTCA CTGGTATTCTCACATGATGGCTTCATTGGTATTCTCACATGATGGCTTCA T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0058 a0001c0006t0004g0058	1	289	0.0035	200	c.-84 others(217): Show c.-84-1808_-84-1807insATGAAGCCATCATGTGAGAATACCAATG AAGCCATCATGTGAGAATACCAGTGAAGCCATCATGTGAGAATACCAATG AAGCCATCATGTGAGAATACCAGTGAAGCCATCATGTGAGAATACCAGTG AAGCCATCATGTGAGAATACCAGTGAAGCCATCATGTGAGAATACCAGTG AAGCCATCATGTGAGAATACCA	PIK3C2B	ENSG00000133056.14	transcript	ENST00000684373.1	protein_coding	1/32			chr1	TogoVar
PIK3R1_chr5_68210756_68306821	68262796	C C	CATATATA others(193): Show CATATATACATGTAGATGCATGTAGATACGTGTATACATATATACATGTA GATGCATGTAGATACGTGTATACATATATACATGTAGATGCATGTAGATA CGTGTATACATATATACATGTAGATGCATGTAGATACATGTATACATATA TACATGTAGATGCATGTAGATACATGTATACATATATACATGTAGATACA T	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0142 a0001c0002t0002g0142	1	266	0.0038	200	c.335 others(219): Show c.335-10594_335-10593insATATATACATGTAGATGCATGTAGAT ACGTGTATACATATATACATGTAGATGCATGTAGATACGTGTATACATAT ATACATGTAGATGCATGTAGATACGTGTATACATATATACATGTAGATGC ATGTAGATACATGTATACATATATACATGTAGATGCATGTAGATACATGT ATACATATATACATGTAGATACAT	PIK3R1	ENSG00000145675.16	transcript	ENST00000521381.6	protein_coding	2/15			chr5	TogoVar
PIM1_chr6_37165152_37180428	37179403	A A	AATTATAT others(193): Show AATTATATATTATATATAATATATAATATATAATATATATTATATATTAT ATATTATATATTATACATAAAATATATATAATATATATTATATATAATAT ATATTATATATATTATATATTATATATTATATATTATATATAATATATAT TATATATATTATATATTATATATTATATATAATATATAATATATATTATA T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	357	0.0028	200	c.53 others(211): Show c.5312_*5313insATTATATATTATATATAATATATAATATATAATA TATATTATATATTATATATTATATATTATACATAAAATATATATAATATA TATTATATATAATATATATTATATATATTATATATTATATATTATATATT ATATATAATATATATTATATATATTATATATTATATATTATATATAATAT ATAATATATATTATAT	PIM1	ENSG00000137193.14	transcript	ENST00000373509.6	protein_coding		3976		chr6	TogoVar
PIP5K1C_chr19_3625183_3705468	3649048	T T	TTGTCACC others(193): Show TTGTCACCCGGCACCATGCCCACAGGTCCCCTGCCCAGCGCGGGAGTTAA CTGTCACCCGGCACCATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAA CTGTCACCCGGCACCATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAA CTGTCACCCGGCACCATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAA C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02486.hp2 HG03130.hp1 others(1): Show HG02451.hp1 HG02486.hp2 HG03130.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0045 a0001c0001t0010 a0001c0001t0045	a0001c0001t0010g0056 a0001c0001t0010g0057 a0001c0001t0010g0060 others(1): Show a0001c0001t0010g0056 a0001c0001t0010g0057 a0001c0001t0010g0060 a0001c0001t0045g0270	4	170	0.0235	200	c.112 others(217): Show c.1128-341_1128-340insGTTAACTCCCGCGCTGGGCAGGGGACGT GTGGGCATGGTGCCGGGTGACAGTTAACTCCCGCGCTGGGCAGGGGACGT GTGGGCATGGTGCCGGGTGACAGTTAACTCCCGCGCTGGGCAGGGGACGT GTGGGCATGGTGCCGGGTGACAGTTAACTCCCGCGCTGGGCAGGGGACCT GTGGGCATGGTGCCGGGTGACA	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PIP5K1C_chr19_3625183_3705468	3649113	A A	ATGCCCAC others(193): Show ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC G	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA19240.hp1 HG02145.hp2 NA19240.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0013 a0001c0006t0013	a0001c0006t0013g0325 a0001c0006t0013g0326 a0001c0006t0013g0325 a0001c0006t0013g0326	2	291	0.0069	200	c.112 others(217): Show c.1128-406_1128-405insCGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCA	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PIP5K1C_chr19_3625183_3705468	3649213	A A	ATGCCCAC others(193): Show ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02970.hp1 HG02055.hp2 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0032 a0001c0002t0003 a0001c0002t0032	a0001c0002t0003g0196 a0001c0002t0032g0017 a0001c0002t0003g0196 a0001c0002t0032g0017	2	235	0.0085	200	c.112 others(217): Show c.1128-506_1128-505insCGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCA	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PIP5K1C_chr19_3625183_3705468	3649263	A A	ATGCCCAC others(193): Show ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00621.hp1 HG00621.hp2 others(16): Show HG00423.hp2 HG00621.hp1 HG00621.hp2 HG02074.hp1 HG02523.hp1 HG03516.hp2 HG03831.hp2 HG03834.hp1 NA18612.hp2 NA18950.hp2 NA18959.hp2 NA18966.hp2 NA18982.hp1 NA19005.hp1 NA19011.hp1 NA19065.hp2 NA19081.hp2 NA19085.hp1 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 others(3): Show a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0002t0008 a0001c0002t0019 a0001c0002t0029	a0001c0002t0003g0129 a0001c0002t0003g0130 a0001c0002t0003g0131 others(16): Show a0001c0002t0003g0129 a0001c0002t0003g0130 a0001c0002t0003g0131 a0001c0002t0003g0138 a0001c0002t0003g0140 a0001c0002t0003g0190 a0001c0002t0003g0277 a0001c0002t0003g0278 a0001c0002t0003g0279 a0001c0002t0003g0289 a0001c0002t0003g0292 a0001c0002t0003g0302 a0001c0002t0004g0295 a0001c0002t0007g0168 a0001c0002t0008g0139 a0001c0002t0008g0299 a0001c0002t0008g0300 a0001c0002t0019g0290 a0001c0002t0029g0132	19	104	0.1827	200	c.112 others(217): Show c.1128-755_1128-556dupCGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCA	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PIP5K1C_chr19_3625183_3705468	3649513	A A	ATGCCCAC others(193): Show ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC G	intron_variant intron_variant	MODIFIER	HG02738.hp1 NA18983.hp1 HG02738.hp1 NA18983.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0031 a0001c0002t0019 a0001c0002t0031	a0001c0002t0019g0315 a0001c0002t0031g0294 a0001c0002t0019g0315 a0001c0002t0031g0294	2	49	0.0408	200	c.112 others(217): Show c.1128-806_1128-805insCGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCATGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCA	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PIP5K1C_chr19_3625183_3705468	3649513	A A	ATGCCCAC others(193): Show ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02922.hp1 HG03130.hp2 others(2): Show HG02145.hp1 HG02922.hp1 HG03130.hp2 HG03209.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0002t0009 a0001c0001t0009 a0001c0002t0009	a0001c0001t0009g0206 a0001c0001t0009g0259 a0001c0002t0009g0204 others(2): Show a0001c0001t0009g0206 a0001c0001t0009g0259 a0001c0002t0009g0204 a0001c0002t0009g0205 a0001c0002t0009g0207	5	52	0.0962	200	c.112 others(218): Show c.1128-1005_1128-806dupCGGTGCCGGGTGACAGTTAACTCCCGC GCTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGC GCTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGC GCTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGC GCTGGGCAGGGGACGTGTGGGCA	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PJA2_chr5_109329722_109414974	109340619	C C	CCTCTCCC others(193): Show CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC T	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02293.hp1 HG02717.hp1 others(4): Show HG01993.hp2 HG02293.hp1 HG02717.hp1 HG03834.hp2 HG04184.hp2 HG06807.hp1 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(2): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0003c0003t0002 a0003c0003t0011	a0001c0001t0003g0178 a0001c0001t0004g0276 a0001c0001t0005g0035 others(4): Show a0001c0001t0003g0178 a0001c0001t0004g0276 a0001c0001t0005g0035 a0003c0003t0002g0092 a0003c0003t0002g0118 a0003c0003t0002g0120 a0003c0003t0011g0341	7	169	0.0414	200	c.200 others(219): Show c.2002-3264_2002-3263insAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAG	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	9/9			chr5	TogoVar
PKP3_chr11_389209_409908	401625	A A	ACCCGACC others(193): Show ACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCC GCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCC CCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCG CTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCAC C	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0116 a0001c0003t0001g0116	1	177	0.0056	200	c.173 others(217): Show c.1737+924_1737+925insACCCGCTCACCCCCGGCCCCGCTCACCC CGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGGC CCCGCTCACACCCGGCCCCCGCTCACACCCGCCCCGCTCACACCCGCCCC GCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTC ACACCCGCCCCGCTCACCCCCG	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLEKHG4B_chr5_87168_194966	165265	C C	CACTAATG others(193): Show CACTAATGCTCTGATGGGGCGGGGCTCACAGTAATCCTCTGACGGGGCGG GGCTCACACTAATGCTCTGACGGGGCGGGGCTCACACTAATGCTCTGACG GGGCGGGGCTCACACTAACGCTCTGACGGGGCGGGGCTCACACTAATGCT CTGACGGGGCGGGGCTCACACTAATGCTGTGACGGGGCGGAGCTCACACA G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0019 a0019	a0019c0030 a0019c0030	a0019c0030t0038 a0019c0030t0038	a0019c0030t0038g0139 a0019c0030t0038g0139	1	186	0.0054	200	c.347 others(219): Show c.3476+1717_3476+1718insACTAATGCTCTGATGGGGCGGGGCTC ACAGTAATCCTCTGACGGGGCGGGGCTCACACTAATGCTCTGACGGGGCG GGGCTCACACTAATGCTCTGACGGGGCGGGGCTCACACTAACGCTCTGAC GGGGCGGGGCTCACACTAATGCTCTGACGGGGCGGGGCTCACACTAATGC TGTGACGGGGCGGAGCTCACACAG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19			chr5	TogoVar
PLEKHG4B_chr5_87168_194966	165529	C C	CGGGGCGG others(193): Show CGGGGCGGAGCTCACACTAATGCTCTGATGGGGCGGAGCTCACACTAATG CTCTGACGGGGCGGGGCTCACACTAATGCTGTGACAGGGGGCGGGGCTCA CAGTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGATGGGGCGG AGCTCACACTAATGCTCTGACGGGGCGGGGCTCACACTAATGCTGTGACA G	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0008 a0008	a0008c0025 a0008c0025	a0008c0025t0062 a0008c0025t0062	a0008c0025t0062g0173 a0008c0025t0062g0173	1	171	0.0058	200	c.347 others(219): Show c.3476+1988_3476+1989insAGCTCACACTAATGCTCTGATGGGGC GGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACACTAATGCTGTGA CAGGGGGCGGGGCTCACAGTAATGCTCTGACGGGGCGGAGCTCACACTAA TGCTCTGATGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCA CACTAATGCTGTGACAGGGGGCGG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	165553	C C	CTGACGGG others(193): Show CTGACGGGGCGGGGCTCACAGTAATCCTCTGACGGGGCGGAGCTCACACT AATGCTGTGACAGGGGTCGGAGCTCACACTAATGCTCTGACGGGGCGGGG CTCACAGTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTGTGACAGG GGTCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACACTAATGCT G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0009 a0009	a0009c0069 a0009c0069	a0009c0069t0019 a0009c0069t0019	a0009c0069t0019g0204 a0009c0069t0019g0204	1	194	0.0052	200	c.347 others(219): Show c.3476+2044_3476+2045insAGCTCACACTAATGCTGTGACAGGGG TCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTAATGCTCT GACGGGGCGGAGCTCACACTAATGCTGTGACAGGGGTCGGAGCTCACACT AATGCTCTGACGGGGCGGGGCTCACACTAATGCTGTGACGGGGCGGGGCT CACAGTAATCCTCTGACGGGGCGG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	165641	T T	TGGGGCGG others(193): Show TGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGAGCTCACACTAATG CTGTGACAGGGGGCGGGGCTCACAGTAATGCTCTGACGGGGCGGAGCTCA CACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGG AGCTCACACTAATGCTGTGACAGGGGGCGGGGCTCACAGTAATGCTCTGA C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0006 a0006	a0006c0070 a0006c0070	a0006c0070t0046 a0006c0070t0046	a0006c0070t0046g0207 a0006c0070t0046g0207	1	124	0.0081	200	c.347 others(219): Show c.3476+2094_3476+2095insGGGCGGAGCTCACACTAATGCTCTGA CGGGGCGGAGCTCACACTAATGCTGTGACAGGGGGCGGGGCTCACAGTAA TGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGAGCTCA CACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTGTGACAGGGGGC GGGGCTCACAGTAATGCTCTGACG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	165996	A A	ATGCTCTG others(193): Show ATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGAGCTC ACACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTGTGACAGGGGT CGGAGCTCACACAGTAATGCTGTGACGGGGCAGAGCTCACACTAATGCTC TGACGGGGCGGGGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTA C	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0093 a0001c0001t0024g0093	1	202	0.0050	200	c.347 others(219): Show c.3476+2449_3476+2450insGCTCTGACGGGGCGGAGCTCACACTA ATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGAGCTC ACACTAATGCTGTGACAGGGGTCGGAGCTCACACAGTAATGCTGTGACGG GGCAGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACACTAATGCTC TGACGGGGCGGGGCTCACAGTACT	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	166069	G G	GGCTCACA others(193): Show GGCTCACACTAATGCTGTGACAGGGGTCGGAGCTCACACAGTAATGCTGT GACGGGGCGGAGCTCACACTAATGCTGTGACGGGGCGGAGCTCACACTAA TGCTCTGATGGGGCGGGGCTCACACTAATGCTCTGACGGGGTGGGGCTCA CAGTACTCCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGTGG A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0011 a0011	a0011c0023 a0011c0023	a0011c0023t0053 a0011c0023t0053	a0011c0023t0053g0183 a0011c0023t0053g0183	1	189	0.0053	200	c.347 others(219): Show c.3476+2528_3476+2529insCTAATGCTGTGACAGGGGTCGGAGCT CACACAGTAATGCTGTGACGGGGCGGAGCTCACACTAATGCTGTGACGGG GCGGAGCTCACACTAATGCTCTGATGGGGCGGGGCTCACACTAATGCTCT GACGGGGTGGGGCTCACAGTACTCCTCTGACGGGGCGGAGCTCACACTAA TGCTCTGACGGGGTGGAGCTCACA	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	194146	A A	ACTGTCCT others(193): Show ACTGTCCTGTGGTCTCACTGCCCCCCGCCGTCTGCTTTCTGAGCTGACAT TCTGTCCTGTGGTCTCACTGCCCCCCGCCGTCTGCTTTCTGAGCTGACAT TCTGTCCTGTGGTCTCACTGCCCCCCGCCGTCTGCTTTCTGAGCAGACAT TCTGTCCTGTGGTCTCACTGCCCCCCGCCGTCTGCTTTCTGAGCTGACAT T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG02886.hp2 HG03139.hp2 others(2): Show HG01099.hp1 HG02886.hp2 HG03139.hp2 HG03209.hp2 HG03486.hp2	a0010 a0011 a0010 a0011	a0010c0012 a0010c0034 a0011c0078 a0010c0012 a0010c0034 a0011c0078	a0010c0012t0029 a0010c0012t0089 a0010c0012t0090 others(2): Show a0010c0012t0029 a0010c0012t0089 a0010c0012t0090 a0010c0034t0029 a0011c0078t0055	a0010c0012t0029g0160 a0010c0012t0089g0155 a0010c0012t0090g0156 others(2): Show a0010c0012t0029g0160 a0010c0012t0089g0155 a0010c0012t0090g0156 a0010c0034t0029g0161 a0011c0078t0055g0184	5	114	0.0439	200	c.11 others(213): Show c.11823_*11824insCTGTCCTGTGGTCTCACTGCCCCCCGCCGTCT GCTTTCTGAGCTGACATTCTGTCCTGTGGTCTCACTGCCCCCCGCCGTCT GCTTTCTGAGCTGACATTCTGTCCTGTGGTCTCACTGCCCCCCGCCGTCT GCTTTCTGAGCAGACATTCTGTCCTGTGGTCTCACTGCCCCCCGCCGTCT GCTTTCTGAGCTGACATT	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding		4181		chr5	TogoVar
PLIN1_chr15_89659367_89684367	89663991	G G	GCCAGGGC others(193): Show GCCAGGGCCACAGAGTCAGTGCCAGGGCCACAGAGTCAGTTCCAGGGCCA CAGAGTCAGCGCCAGGGCCACAGAGTCAGTTCCAGGGCCACAGAGTCAGC ACCAGGGCCACAGAGTCAGTTCCAGGGCCACAGAGTCAGCGCCAGGGCCA CAGAGTCAGTTCCAGGGCCACAGAGTCAGCGCCAGGGCCACAGAGTCAGT T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0067 a0001c0001t0007g0301 a0001c0001t0007g0067 a0001c0001t0007g0301	3	196	0.0153	200	c.15 others(211): Show c.1591_*1592insAACTGACTCTGTGGCCCTGGCGCTGACTCTGTGG CCCTGGAACTGACTCTGTGGCCCTGGCGCTGACTCTGTGGCCCTGGAACT GACTCTGTGGCCCTGGTGCTGACTCTGTGGCCCTGGAACTGACTCTGTGG CCCTGGCGCTGACTCTGTGGCCCTGGAACTGACTCTGTGGCCCTGGCACT GACTCTGTGGCCCTGG	PLIN1	ENSG00000166819.12	transcript	ENST00000300055.10	protein_coding		375		chr15	TogoVar
PLXNB2_chr22_50269979_50312646	50276402	G G	GCAGGGAT others(193): Show GCAGGGATGGGGCGCTGTGGGCACGGCCGTGGATGGAGTGACAGGGAGGG GGCGCTGTGGGCACGGCCGTGGGTGCAGCCGCAGGGAGGGGGCGCTGTGG GCACGGCCGTGGATGGAGTGACAGGGAGGGGGCGCTGTGGGCACGGCCGT GGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGATGGAGTG A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03225.hp1 HG01884.hp1 HG03225.hp1	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0008 a0002c0014t0008	a0002c0014t0008g0134 a0002c0014t0008g0135 a0002c0014t0008g0134 a0002c0014t0008g0135	2	134	0.0149	200	c.533 others(217): Show c.5337+226_5337+227insTCACTCCATCCACGGCCGTGCCCACAGC GCCCCCTCCCTGCGGCTGCACCCACGGCCGTGCCCACAGCGCCCCCTCCC TGTCACTCCATCCACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCA CCCACGGCCGTGCCCACAGCGCCCCCTCCCTGTCACTCCATCCACGGCCG TGCCCACAGCGCCCCATCCCTG	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding	35/36			chr22	TogoVar
PNPLA1_chr6_36265060_36318955	36275948	T T	TTTTCTTT others(193): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG03540.hp2 HG01106.hp1 HG03540.hp2	a0003 a0004 a0003 a0004	a0003c0004 a0004c0006 a0003c0004 a0004c0006	a0003c0004t0006 a0004c0006t0003 a0003c0004t0006 a0004c0006t0003	a0003c0004t0006g0366 a0004c0006t0003g0375 a0003c0004t0006g0366 a0004c0006t0003g0375	2	367	0.0054	200	c.205 others(217): Show c.205+5311_205+5312insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTT	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
POR_chr7_75910155_75991855	75988932	T T	TGTGGAGG others(193): Show TGTGGAGGGGAAGGCTGGGTGGGTGTGTGGAGGGGAAGGCCGGGTGGGGG GGTGGAGGGGAAGGCCGGGTGGGGGGGTGGAGGGGAAGGCGGGGAGGGGG TGTGGAGGGGAAGGCGGGGAGGGGGTGTGGAGGGGAAGGCCGGGTGGGTG TGTGGAGGGGAAGGCCGGGTGGGTGTGTGGAGGGGAAGGCCGGGTGGGGG G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0040 a0002c0001t0002g0040	1	240	0.0042	200	c.24 others(211): Show c.2451_*2452insGTGGAGGGGAAGGCTGGGTGGGTGTGTGGAGGGG AAGGCCGGGTGGGGGGGTGGAGGGGAAGGCCGGGTGGGGGGGTGGAGGGG AAGGCGGGGAGGGGGTGTGGAGGGGAAGGCGGGGAGGGGGTGTGGAGGGG AAGGCCGGGTGGGTGTGTGGAGGGGAAGGCCGGGTGGGTGTGTGGAGGGG AAGGCCGGGTGGGGGG	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding		2078		chr7	TogoVar
PPCS_chr1_42451543_42466236	42461713	A A	ATTTTTTT others(193): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATC TCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAA T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	393	0.0025	200	c.17 others(211): Show c.1787_*1788insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGAC TGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCC ACCGCGCCCGGCTAAT	PPCS	ENSG00000127125.9	transcript	ENST00000372561.4	protein_coding		478		chr1	TogoVar
PRIMPOL_chr4_184644738_184699952	184676424	C C	CCCTTCCC others(193): Show CCCTTCCCCCTTCCCTTCTCCTTCCCTTCTCCCTTCCCCCTTCCCTTCTC CCTTCCCTTCCCCTCCCCTTCCTCTCTCCTTCCCCCTTCCCTTCCCCCTT CCCTTCCCCTCCCCTTCCTCTCTCCTTCCCCCTTCCCTTCTCCCTTCCCC TTCTCCCTTCCCCCTTCCCTTCTCCCTTCCCTTCCCCTCCCCTTCCTCTC T	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	325	0.0031	200	c.845 others(217): Show c.845-1788_845-1787insTTCCCTTCTCCCTTCCCCCTTCCCTTCT CCCTTCCCTTCCCCTCCCCTTCCTCTCTCCTTCCCCCTTCCCTTCCCCCT TCCCTTCCCCTCCCCTTCCTCTCTCCTTCCCCCTTCCCTTCTCCCTTCCC CTTCTCCCTTCCCCCTTCCCTTCTCCCTTCCCTTCCCCTCCCCTTCCTCT CTCCTTCCCCCTTCCCTTCTCC	PRIMPOL	ENSG00000164306.11	transcript	ENST00000314970.11	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
PRIMPOL_chr4_184644738_184699952	184676452	T T	TCTCCCTT others(193): Show TCTCCCTTCCCCCTTCCCTTCTCCCTTCCCTTCCCCTCCCCTTCCTCTCT CCTTCCCCCTTCCCTTCCCCCTTCCCTTCCCCTCCCCTTCCTCTCTCCTT CCCCCTTCCCTTCTCCCTTCCCTTCTCCCTTCCCCTTCCCTTCTCCCTTC CCTTCCCCTCCCCTTCCTCTCTCCTTCCCCCTTCCCTTCTCCCTTCCCTT C	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	82	0.0122	200	c.845 others(217): Show c.845-1779_845-1778insTCCCTTCCCCCTTCCCTTCTCCCTTCCC TTCCCCTCCCCTTCCTCTCTCCTTCCCCCTTCCCTTCCCCCTTCCCTTCC CCTCCCCTTCCTCTCTCCTTCCCCCTTCCCTTCTCCCTTCCCTTCTCCCT TCCCCTTCCCTTCTCCCTTCCCTTCCCCTCCCCTTCCTCTCTCCTTCCCC CTTCCCTTCTCCCTTCCCTTCC	PRIMPOL	ENSG00000164306.11	transcript	ENST00000314970.11	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
PRIMPOL_chr4_184644738_184699952	184676452	T T	TCTCCCTT others(193): Show TCTCCCTTCCCCCTTCCCTTCTCCCTTCCCTTCCCCTCCCCTTCCTCTCT CCTTCCCCCTTCCCTTCCCCCTTCCCTTCCCCTCCCCTTCCTCTCTCCTT CCCCCTTCCCTTCTCCCTTCCTTCTCCCTTCCCCCTTCCCTTCTCCCTTC CCTTCCCCTCCCCTTCCTCTCTCCTTCCCCCTTCCCTTCTCCCTTCCCTT C	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	82	0.0122	200	c.845 others(217): Show c.845-1779_845-1778insTCCCTTCCCCCTTCCCTTCTCCCTTCCC TTCCCCTCCCCTTCCTCTCTCCTTCCCCCTTCCCTTCCCCCTTCCCTTCC CCTCCCCTTCCTCTCTCCTTCCCCCTTCCCTTCTCCCTTCCTTCTCCCTT CCCCCTTCCCTTCTCCCTTCCCTTCCCCTCCCCTTCCTCTCTCCTTCCCC CTTCCCTTCTCCCTTCCCTTCC	PRIMPOL	ENSG00000164306.11	transcript	ENST00000314970.11	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
PRIMPOL_chr4_184644738_184699952	184676452	T T	TCTCCCTT others(193): Show TCTCCCTTCCCCCTTCCCTTCTCCCTTCCCTTCCCTCCCCTTCCTCTCTC CTTCCCCCTTCCCTTCCCCCTTCCCTTCCCCTCCCCTTCCTCTCTCCTTC CCCCTTCCCTTCTCCCTTCCCTTCTCCCTTCCCCCTTCCCTTCTCCCTTC CCTTCCCCTCCCCTTCCTCTCTCCTTCCCCCTTCCCTTCTCCCTTCCCTT C	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	82	0.0122	200	c.845 others(217): Show c.845-1779_845-1778insTCCCTTCCCCCTTCCCTTCTCCCTTCCC TTCCCTCCCCTTCCTCTCTCCTTCCCCCTTCCCTTCCCCCTTCCCTTCCC CTCCCCTTCCTCTCTCCTTCCCCCTTCCCTTCTCCCTTCCCTTCTCCCTT CCCCCTTCCCTTCTCCCTTCCCTTCCCCTCCCCTTCCTCTCTCCTTCCCC CTTCCCTTCTCCCTTCCCTTCC	PRIMPOL	ENSG00000164306.11	transcript	ENST00000314970.11	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
PRKCB_chr16_23830983_24225611	23981914	C C	CCCTTTAC others(193): Show CCCTTTACCTTCCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCCTTCCCCT TCCCTTCCCTTCTCCTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCCCTT CCCTTTCCCTTCCCTTCCCTTTCCCTTCCCCTCCCCTTCCCTTTCCCTTA CCCTTCCCTTTCCCTTCCCCTTCTCTTTCCTTTCCCTTTCCCTTTCCATT T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00639.hp1 others(77): Show HG00423.hp1 HG00423.hp2 HG00639.hp1 HG00642.hp2 HG00738.hp1 HG01071.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG02015.hp1 HG02015.hp2 HG02109.hp2 HG02132.hp1 HG02145.hp2 HG02300.hp2 HG02486.hp1 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp2 NA18970.hp2 NA18983.hp2 NA18998.hp1 NA19030.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(13): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0018 a0002c0017	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(72): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0017 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0028 a0001c0001t0032 a0001c0001t0036 a0001c0001t0045 a0001c0001t0046 a0001c0001t0049 a0001c0001t0056 a0001c0001t0058 a0001c0001t0062 a0001c0001t0066 a0001c0001t0069 a0001c0001t0076 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0013 a0001c0002t0023 a0001c0002t0031 a0001c0002t0034 a0001c0002t0035 a0001c0002t0043 a0001c0002t0055 a0001c0002t0059 a0001c0002t0084 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0007 a0001c0003t0008 a0001c0003t0010 a0001c0003t0024 a0001c0003t0026 a0001c0003t0048 a0001c0003t0064 a0001c0003t0065 a0001c0003t0071 a0001c0004t0002 a0001c0004t0007 a0001c0004t0009 a0001c0004t0053 a0001c0004t0072 a0001c0004t0077 a0001c0005t0001 a0001c0005t0003 a0001c0005t0006 a0001c0005t0051 a0001c0006t0006 a0001c0007t0001 a0001c0007t0022 a0001c0007t0025 a0001c0007t0054 a0001c0008t0016 a0001c0008t0037 a0001c0009t0067 a0001c0009t0073 a0001c0010t0088 a0001c0011t0002 a0001c0011t0063 a0001c0012t0024 a0001c0013t0047 a0001c0014t0001 a0001c0018t0008 a0002c0017t0027	a0001c0001t0002g0129 a0001c0001t0003g0105 a0001c0001t0004g0106 others(77): Show a0001c0001t0002g0129 a0001c0001t0003g0105 a0001c0001t0004g0106 a0001c0001t0005g0104 a0001c0001t0005g0138 a0001c0001t0008g0054 a0001c0001t0010g0053 a0001c0001t0011g0112 a0001c0001t0014g0123 a0001c0001t0014g0137 a0001c0001t0017g0071 a0001c0001t0019g0102 a0001c0001t0021g0120 a0001c0001t0022g0119 a0001c0001t0028g0048 a0001c0001t0032g0130 a0001c0001t0036g0110 a0001c0001t0045g0069 a0001c0001t0046g0029 a0001c0001t0049g0101 a0001c0001t0056g0109 a0001c0001t0058g0072 a0001c0001t0062g0090 a0001c0001t0066g0007 a0001c0001t0069g0051 a0001c0001t0076g0100 a0001c0002t0001g0003 a0001c0002t0002g0132 a0001c0002t0005g0066 a0001c0002t0013g0020 a0001c0002t0023g0077 a0001c0002t0023g0078 a0001c0002t0031g0124 a0001c0002t0034g0084 a0001c0002t0035g0139 a0001c0002t0043g0058 a0001c0002t0055g0115 a0001c0002t0059g0096 a0001c0002t0084g0067 a0001c0003t0001g0128 a0001c0003t0002g0033 a0001c0003t0003g0088 a0001c0003t0007g0063 a0001c0003t0008g0140 a0001c0003t0010g0146 a0001c0003t0024g0057 a0001c0003t0026g0113 a0001c0003t0048g0055 a0001c0003t0064g0143 a0001c0003t0065g0122 a0001c0003t0071g0046 a0001c0004t0002g0039 a0001c0004t0007g0041 a0001c0004t0009g0011 a0001c0004t0009g0092 a0001c0004t0053g0030 a0001c0004t0072g0094 a0001c0004t0077g0091 a0001c0005t0001g0013 a0001c0005t0003g0042 a0001c0005t0006g0028 a0001c0005t0051g0040 a0001c0006t0006g0014 a0001c0007t0001g0117 a0001c0007t0022g0089 a0001c0007t0025g0050 a0001c0007t0054g0095 a0001c0008t0016g0118 a0001c0008t0016g0126 a0001c0008t0037g0127 a0001c0009t0067g0012 a0001c0009t0073g0031 a0001c0010t0088g0099 a0001c0011t0002g0136 a0001c0011t0063g0064 a0001c0012t0024g0022 a0001c0013t0047g0047 a0001c0014t0001g0107 a0001c0018t0008g0049 a0002c0017t0027g0081	80	139	0.5755	200	c.206 others(217): Show c.206-6592_206-6591insTTTACCTTCCCCTTCCCTTTCCCTTCCC TTTCCCTTCCCCTTCCCCTTCCCTTCCCTTCTCCTTCCCTTCCCCTTCCC TTCCCTTTCCCTTCCCCTTCCCTTTCCCTTCCCTTCCCTTTCCCTTCCCC TCCCCTTCCCTTTCCCTTACCCTTCCCTTTCCCTTCCCCTTCTCTTTCCT TTCCCTTTCCCTTTCCATTTCC	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	23981914	C C	CCCTTTCC others(193): Show CCCTTTCCCTTCCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCCTTCCCCT TCCCTTCCCTTCTCCTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCCCTT CCCTTTCCCTTCCCTTCCCTTTCCCTTCCCCTCCCCTTCCCTTTCCCTTA CCCTTCCCTTTCCCTTCCCCTTCTCTTTCCTTTCCCTTTCCCTTTCCATT T	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0020 a0001c0005t0020	a0001c0005t0020g0037 a0001c0005t0020g0037	1	60	0.0167	200	c.206 others(217): Show c.206-6592_206-6591insTTTCCCTTCCCCTTCCCTTTCCCTTCCC TTTCCCTTCCCCTTCCCCTTCCCTTCCCTTCTCCTTCCCTTCCCCTTCCC TTCCCTTTCCCTTCCCCTTCCCTTTCCCTTCCCTTCCCTTTCCCTTCCCC TCCCCTTCCCTTTCCCTTACCCTTCCCTTTCCCTTCCCCTTCTCTTTCCT TTCCCTTTCCCTTTCCATTTCC	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKN_chr6_161342417_162732766	162010625	T T	TATAATAT others(193): Show TATAATATATTATATATATTATATTATATATATTATATTATATTATATTA TATATATTATATATAATATTATATAATATATTATATAATATATAACATAT ATTATACAATATATTATATAATATATATTATATATAATATATTATATATT ATATAATATTAATATATATAATATATAATATAATATATTATATAATATAT A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	30	0.0333	200	c.619 others(219): Show c.619-37209_619-37208insTATATATTATATAATATATTATATTA TATATTATATATATTAATATTATATAATATATAATATATTATATATAATA TATATTATATAATATATTGTATAATATATGTTATATATTATATAATATAT TATATAATATTATATATAATATATATAATATAATATAATATAATATATAT AATATAATATATATAATATATTAT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	5/11			chr6	TogoVar
PSD3_chr8_18522303_19018703	18594313	T T	TATATATA others(193): Show TATATATATTATATAATATATATTATTATATATATTATATAATATATATA TTATATATATTATATAATATATATTATTATATATATTATATAATATATAT ATTATATATATTATATAATATATATTATTATATATATTATATAATATATA TTATTATATATATTATATAATATATATTATTATATATAATAAATATTATT A	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0063 a0002c0005t0001g0063	1	102	0.0098	200	c.248 others(219): Show c.2481+6050_2481+6051insTAATAATATTTATTATATATAATAAT ATATATTATATAATATATATAATAATATATATTATATAATATATATAATA ATATATATTATATAATATATATAATATATATATTATATAATATATATAAT AATATATATTATATAATATATATAATATATATATTATATAATATATATAA TAATATATATTATATAATATATAT	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	12/15			chr8	TogoVar
PTDSS2_chr11_445279_496399	474860	T T	TGTGCGGA others(193): Show TGTGCGGACATATTCACACGTTCGTGTACATATTCACGCGTTTATGATAC GGACATAATCATGTCTTTGTGTATATGGACATGTTCACGCGTTTGTGATA CGGACATATTCACGTGTTTGTGTGATACGGACATTCACGCGTTTGTGTGA TATGGACACATTCACGTGTTTGTGTGTGGGACACATTCACGCGTTTGTGT G	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0084 a0001c0010t0002g0084	1	344	0.0029	200	c.367 others(215): Show c.367+883_367+884insGTGCGGACATATTCACACGTTCGTGTACAT ATTCACGCGTTTATGATACGGACATAATCATGTCTTTGTGTATATGGACA TGTTCACGCGTTTGTGATACGGACATATTCACGTGTTTGTGTGATACGGA CATTCACGCGTTTGTGTGATATGGACACATTCACGTGTTTGTGTGTGGGA CACATTCACGCGTTTGTGTG	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	3/11			chr11	TogoVar
PUM3_chr9_2799152_2849095	2814057	T T	TCTAACCA others(193): Show TCTAACCACCTCAAAATGAATAACTAATTACAACCACTCAGGGAAAATGA ACTTAAAATTTCAGTAACAAACGGGAAAACACACAAAAAACATACAGAAC TTGTTACAAGGCAGGGAACTCTCTCAAGGAAAACAAGCTCCAAAGTGAAC TCAAACTATTTTTTTTTTTTTTTGAGACGGAATCTCACTCTGTTGCCCAG G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00438.hp1 others(221): Show HG00140.hp1 HG00280.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01255.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02300.hp1 HG02486.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18943.hp1 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18987.hp2 NA18988.hp1 NA18989.hp1 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18994.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19006.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19054.hp2 NA19055.hp2 NA19057.hp1 NA19058.hp2 NA19060.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19075.hp2 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19085.hp1 NA19087.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0011 a0013 a0020	a0001c0001 a0001c0005 a0001c0010 others(10): Show a0001c0001 a0001c0005 a0001c0010 a0001c0019 a0002c0002 a0002c0003 a0002c0007 a0002c0013 a0003c0004 a0004c0006 a0011c0023 a0013c0020 a0020c0026	a0001c0001t0001 a0001c0001t0003 a0001c0005t0001 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0005t0001 a0001c0010t0001 a0001c0019t0001 a0002c0002t0001 a0002c0003t0001 a0002c0007t0001 a0002c0013t0001 a0003c0004t0001 a0004c0006t0001 a0011c0023t0001 a0013c0020t0001 a0020c0026t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(168): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0124 a0001c0001t0001g0152 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0005t0001g0068 a0001c0005t0001g0069 a0001c0005t0001g0070 a0001c0005t0001g0071 a0001c0005t0001g0073 a0001c0005t0001g0074 a0001c0005t0001g0075 a0001c0005t0001g0137 a0001c0005t0001g0187 a0001c0005t0001g0206 a0001c0005t0001g0216 a0001c0005t0001g0290 a0001c0010t0001g0224 a0001c0010t0001g0226 a0001c0010t0001g0229 a0001c0019t0001g0254 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0003t0001g0004 a0002c0003t0001g0013 a0002c0003t0001g0028 a0002c0003t0001g0055 a0002c0003t0001g0072 a0002c0003t0001g0078 a0002c0003t0001g0080 a0002c0003t0001g0139 a0002c0003t0001g0140 a0002c0003t0001g0141 a0002c0003t0001g0142 a0002c0003t0001g0144 a0002c0003t0001g0146 a0002c0003t0001g0147 a0002c0003t0001g0148 a0002c0003t0001g0149 a0002c0003t0001g0150 a0002c0003t0001g0151 a0002c0003t0001g0165 a0002c0003t0001g0182 a0002c0007t0001g0039 a0002c0007t0001g0184 a0002c0007t0001g0241 a0002c0007t0001g0242 a0002c0007t0001g0244 a0002c0007t0001g0245 a0002c0013t0001g0143 a0002c0013t0001g0145 a0003c0004t0001g0176 a0004c0006t0001g0014 a0004c0006t0001g0015 a0004c0006t0001g0153 a0004c0006t0001g0154 a0004c0006t0001g0155 a0004c0006t0001g0156 a0011c0023t0001g0284 a0013c0020t0001g0299 a0020c0026t0001g0246	224	360	0.6222	200	c.127 others(219): Show c.1270-1696_1270-1695insCCTGGGCAACAGAGTGAGATTCCGTC TCAAAAAAAAAAAAAAATAGTTTGAGTTCACTTTGGAGCTTGTTTTCCTT GAGAGAGTTCCCTGCCTTGTAACAAGTTCTGTATGTTTTTTGTGTGTTTT CCCGTTTGTTACTGAAATTTTAAGTTCATTTTCCCTGAGTGGTTGTAATT AGTTATTCATTTTGAGGTGGTTAG	PUM3	ENSG00000080608.10	transcript	ENST00000397885.3	protein_coding	13/17			chr9	TogoVar
PXDN_chr2_1626887_1749515	1720015	G G	GAGAGAGA others(193): Show GAGAGAGAGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCA GAGAGAGAGGGAGGGAGGGATGTAGAGAGAGAGAGAGGGAGGGAGGGATG CAGAGAGAGAGGGAGGGAGGGATGCACAGAGAGAGGGAGGGAGGGATGTA GAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGGGAGGGAGGGATG C	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0287 a0001c0003t0002g0287	1	242	0.0041	200	c.200 others(219): Show c.200+24240_200+24241insGCATCCCTCCCTCCCTCTCTCTCTGC ATCCCTCCCTCCCTCTCTCTCTCTCTACATCCCTCCCTCCCTCTCTCTGT GCATCCCTCCCTCCCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCT CTACATCCCTCCCTCCCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCT CTCTGCATCCCTCCCTCTCTCTCT	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1720015	G G	GAGAGAGA others(193): Show GAGAGAGAGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCA GAGAGAGAGGGAGGGAGGGATGTAGAGAGAGAGAGAGGGAGGGAGGGATG CAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGGGAGGGAGGGATGTA GAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGGGAGGGAGGGATG C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01099.hp1 HG01255.hp2 others(5): Show HG00639.hp1 HG01099.hp1 HG01255.hp2 HG01361.hp1 HG02451.hp2 HG02486.hp2 HG03579.hp1 NA20805.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0010c0043	a0001c0001t0002 a0001c0001t0015 a0001c0002t0003 others(3): Show a0001c0001t0002 a0001c0001t0015 a0001c0002t0003 a0001c0003t0001 a0001c0004t0004 a0010c0043t0006	a0001c0001t0002g0288 a0001c0001t0015g0037 a0001c0002t0003g0051 others(5): Show a0001c0001t0002g0288 a0001c0001t0015g0037 a0001c0002t0003g0051 a0001c0003t0001g0283 a0001c0003t0001g0290 a0001c0003t0001g0291 a0001c0004t0004g0306 a0010c0043t0006g0062	8	249	0.0321	200	c.200 others(219): Show c.200+24240_200+24241insGCATCCCTCCCTCCCTCTCTCTCTGC ATCCCTCCCTCCCTCTCTCTCTCTCTACATCCCTCCCTCCCTCTCTCTCT GCATCCCTCCCTCCCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCT CTACATCCCTCCCTCCCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCT CTCTGCATCCCTCCCTCTCTCTCT	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar

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