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
PCLAF_chr15_64359304_64386441	64368762	T T	TAAAGTTC others(305): Show TAAAGTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCGC CCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCCCC CTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0096 a0001c0001t0015g0096	1	298	0.0034	312	c.291 others(329): Show c.291-2688_291-2687insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCA GTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAGAACTTT	PCLAF	ENSG00000166803.14	transcript	ENST00000300035.9	protein_coding	3/3			chr15	TogoVar
PCOLCE2_chr3_142812874_142894083	142886375	T T	TAAAACAC others(305): Show TAAAACACAATCACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTGGTAGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC GCGCCACTGCACTCCAACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	342	0.0029	312	c.192 others(329): Show c.192+1293_192+1294insTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGTTGGAGTGCAGTGGCGCGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCTGCTACCACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCGTGATTGTGTTTT	PCOLCE2	ENSG00000163710.9	transcript	ENST00000295992.8	protein_coding	2/8			chr3	TogoVar
PDE11A_chr2_177618244_178077777	177784213	A A	AAAACAGG others(305): Show AAAACAGGATGTGGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGAGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGACACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAACG	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0100 a0001c0003t0011g0100	1	170	0.0059	312	c.173 others(333): Show c.1738-14841_1738-14840insCGTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCACTACCACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTGTCACCGTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCTACCACATCCTGTTT	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	9/19			chr2	TogoVar
PDE11A_chr2_177618244_178077777	177784213	A A	AAAACAGG others(305): Show AAAACAGGATGTGGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGCATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGACACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAACG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0022 a0001c0006t0022	a0001c0006t0022g0004 a0001c0006t0022g0004	1	170	0.0059	312	c.173 others(333): Show c.1738-14841_1738-14840insCGTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCACTACCACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTGTCACCGTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCGTGATGCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCTACCACATCCTGTTT	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	9/19			chr2	TogoVar
PDE11A_chr2_177618244_178077777	177784213	A A	AAAACAGG others(305): Show AAAACAGGATGTGGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGACACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAACG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00609.hp1 HG00621.hp1 others(56): Show HG00558.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG01071.hp1 HG01081.hp2 HG01167.hp2 HG01175.hp1 HG01361.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02129.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02300.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp2 HG02717.hp2 HG02738.hp2 HG02886.hp1 HG02897.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18942.hp2 NA18944.hp2 NA18950.hp1 NA18950.hp2 NA18966.hp1 NA19010.hp1 NA19010.hp2 NA19060.hp2 NA19065.hp1 NA19068.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0006 a0009 a0010 a0012	a0001c0001 a0001c0003 a0001c0005 others(13): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0009 a0001c0010 a0001c0033 a0002c0002 a0002c0004 a0002c0012 a0004c0013 a0004c0017 a0006c0014 a0009c0023 a0010c0019 a0012c0024	a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 others(41): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0013 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0026 a0001c0001t0033 a0001c0001t0054 a0001c0001t0060 a0001c0001t0063 a0001c0001t0067 a0001c0003t0016 a0001c0003t0024 a0001c0003t0058 a0001c0005t0026 a0001c0005t0047 a0001c0005t0064 a0001c0006t0002 a0001c0006t0055 a0001c0009t0016 a0001c0009t0062 a0001c0010t0002 a0001c0010t0005 a0001c0033t0068 a0002c0002t0001 a0002c0002t0004 a0002c0002t0006 a0002c0002t0034 a0002c0002t0036 a0002c0002t0037 a0002c0002t0043 a0002c0004t0001 a0002c0004t0020 a0002c0004t0028 a0002c0012t0001 a0004c0013t0009 a0004c0017t0009 a0006c0014t0001 a0006c0014t0038 a0009c0023t0019 a0010c0019t0001 a0012c0024t0012	a0001c0001t0002g0081 a0001c0001t0003g0051 a0001c0001t0011g0039 others(56): Show a0001c0001t0002g0081 a0001c0001t0003g0051 a0001c0001t0011g0039 a0001c0001t0013g0036 a0001c0001t0021g0029 a0001c0001t0021g0042 a0001c0001t0022g0059 a0001c0001t0023g0088 a0001c0001t0026g0069 a0001c0001t0033g0074 a0001c0001t0054g0052 a0001c0001t0060g0082 a0001c0001t0063g0089 a0001c0001t0067g0026 a0001c0003t0016g0095 a0001c0003t0024g0112 a0001c0003t0058g0068 a0001c0005t0026g0021 a0001c0005t0047g0020 a0001c0005t0064g0018 a0001c0006t0002g0009 a0001c0006t0055g0008 a0001c0009t0016g0013 a0001c0009t0062g0010 a0001c0010t0002g0024 a0001c0010t0005g0037 a0001c0033t0068g0170 a0002c0002t0001g0033 a0002c0002t0001g0044 a0002c0002t0001g0047 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0066 a0002c0002t0001g0073 a0002c0002t0001g0075 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0135 a0002c0002t0004g0034 a0002c0002t0004g0035 a0002c0002t0004g0072 a0002c0002t0004g0079 a0002c0002t0006g0084 a0002c0002t0006g0085 a0002c0002t0034g0048 a0002c0002t0036g0038 a0002c0002t0037g0067 a0002c0002t0043g0076 a0002c0004t0001g0141 a0002c0004t0020g0136 a0002c0004t0028g0108 a0002c0012t0001g0005 a0004c0013t0009g0055 a0004c0017t0009g0011 a0006c0014t0001g0070 a0006c0014t0038g0106 a0009c0023t0019g0071 a0010c0019t0001g0114 a0012c0024t0012g0041	59	170	0.3471	312	c.173 others(333): Show c.1738-14841_1738-14840insCGTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCACTACCACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTGTCACCGTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCTACCACATCCTGTTT	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	9/19			chr2	TogoVar
PDE11A_chr2_177618244_178077777	177784213	A A	AAAACAGG others(305): Show AAAACAGGATGTGGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGACACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TGGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAACG	intron_variant intron_variant	MODIFIER	HG00735.hp1 NA20752.hp2 HG00735.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0012 a0001c0006 a0002c0012	a0001c0006t0018 a0002c0012t0001 a0001c0006t0018 a0002c0012t0001	a0001c0006t0018g0006 a0002c0012t0001g0007 a0001c0006t0018g0006 a0002c0012t0001g0007	2	170	0.0118	312	c.173 others(333): Show c.1738-14841_1738-14840insCGTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCACTACCACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTGTCACCGTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCTACCACATCCTGTTT	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	9/19			chr2	TogoVar
PDE11A_chr2_177618244_178077777	177784213	A A	AAAACAGG others(305): Show AAAACAGGATGTGGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGACACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGTGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAACG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02818.hp1 HG02896.hp2 others(3): Show HG02486.hp2 HG02818.hp1 HG02896.hp2 HG03540.hp1 HG03579.hp2 NA19240.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0013	a0001c0001 a0002c0035 a0003c0008 others(1): Show a0001c0001 a0002c0035 a0003c0008 a0013c0032	a0001c0001t0005 a0002c0035t0006 a0003c0008t0010 others(3): Show a0001c0001t0005 a0002c0035t0006 a0003c0008t0010 a0003c0008t0017 a0003c0008t0050 a0013c0032t0001	a0001c0001t0005g0152 a0002c0035t0006g0169 a0003c0008t0010g0166 others(3): Show a0001c0001t0005g0152 a0002c0035t0006g0169 a0003c0008t0010g0166 a0003c0008t0017g0162 a0003c0008t0050g0163 a0013c0032t0001g0164	6	170	0.0353	312	c.173 others(333): Show c.1738-14841_1738-14840insCGTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCACCCACTACCACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTGTCACCGTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCTACCACATCCTGTTT	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	9/19			chr2	TogoVar
PDE11A_chr2_177618244_178077777	177784213	A A	AAAACAGG others(305): Show AAAACAGGATGTGGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGACACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGTGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAACG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0004 a0004	a0004c0022 a0004c0022	a0004c0022t0009 a0004c0022t0009	a0004c0022t0009g0107 a0004c0022t0009g0107	1	170	0.0059	312	c.173 others(333): Show c.1738-14841_1738-14840insCGTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCACCCACTACCACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTGTCACCGTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCTACCACATCCTGTTT	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	9/19			chr2	TogoVar
PDE11A_chr2_177618244_178077777	177784213	A A	AAAACAGG others(305): Show AAAACAGGATGTGGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGACACCCCGTCTCTACTAAAAATACAAAAAATT AGCTGGGCGTGGTAGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAACG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0028 a0002c0002t0006g0028	1	170	0.0059	312	c.173 others(333): Show c.1738-14841_1738-14840insCGTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTGTCACCGTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCTACCACATCCTGTTT	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	9/19			chr2	TogoVar
PDE11A_chr2_177618244_178077777	177784213	A A	AATACAGG others(305): Show AATACAGGATGTGGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGACACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAACG	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	170	0.0059	312	c.173 others(333): Show c.1738-14841_1738-14840insCGTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCACTACCACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTGTCACCGTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCTACCACATCCTGTAT	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	9/19			chr2	TogoVar
PDE2A_chr11_72571141_72679422	72609864	T T	TAAAAGAC others(305): Show TAAAAGACCACAGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	292	0.0034	312	c.145 others(329): Show c.145-1114_145-1113insTTTTTTTTTTTTTTTTTGAGACGGAGTC TTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACTGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCAACTGTGGTCTTTT	PDE2A	ENSG00000186642.16	transcript	ENST00000334456.10	protein_coding	2/30			chr11	TogoVar
PDE2A_chr11_72571141_72679422	72609864	T T	TAAAAGAC others(305): Show TAAAAGACCACAGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA18939.hp2 NA18998.hp2 HG00673.hp2 NA18939.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0266 a0001c0001t0001g0274 a0001c0001t0001g0072 a0001c0001t0001g0266 a0001c0001t0001g0274	3	292	0.0103	312	c.145 others(329): Show c.145-1114_145-1113insTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACTGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCAACTGTGGTCTTTT	PDE2A	ENSG00000186642.16	transcript	ENST00000334456.10	protein_coding	2/30			chr11	TogoVar
PDGFD_chr11_103902189_104169147	104041415	C C	CAAAAATC others(305): Show CAAAAATCCTCCTCTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGCAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCAGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA19030.hp1 HG01891.hp2 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0106 a0001c0002t0001g0107	2	200	0.0100	312	c.125 others(331): Show c.125-41161_125-41160insTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCTGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTGC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCAAGAGGAGGATTTTT	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDIA5_chr3_123062025_123167104	123151955	T T	TCCTGCCT others(305): Show TCCTGCCTTCCTTCCTGCCTTCCTGCCTTCCTTCCTTCCTTCCTTCCTGC CTTCCTTCCTTCCTGCCTTCCTTCCTGCCTGCCTTCCTTCCTGCCTGCCT TTCTTCCTGCCTTCCTTCCTGCCTTCCTGCCTTCCTTCCTTCCTTCCTTC CTGCCTTCCTTCCTGCCTGCCTTCCTTCCTGCCTGCCTTCCTTCCTGCCT GCCTTTCTTCCTGCCTTCCTTCCTGCCTTCCTGCCTTCCTTCCTTCCTTC CTTCCTGCCTTCCTTCCTGCCTTCCTTCCTTCCTGCCTTCCTTCCTTCCT GCCTTCCTTCCTG	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	332	0.0030	312	c.127 others(331): Show c.1273+1598_1273+1599insTCCTTCCTGCCTTCCTGCCTTCCTTC CTTCCTTCCTTCCTGCCTTCCTTCCTTCCTGCCTTCCTTCCTGCCTGCCT TCCTTCCTGCCTGCCTTTCTTCCTGCCTTCCTTCCTGCCTTCCTGCCTTC CTTCCTTCCTTCCTTCCTGCCTTCCTTCCTGCCTGCCTTCCTTCCTGCCT GCCTTCCTTCCTGCCTGCCTTTCTTCCTGCCTTCCTTCCTGCCTTCCTGC CTTCCTTCCTTCCTTCCTTCCTGCCTTCCTTCCTGCCTTCCTTCCTTCCT GCCTTCCTTCCTTCCTGCCTTCCTTCCTGCCTGCCT	PDIA5	ENSG00000065485.20	transcript	ENST00000316218.12	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
PDZRN4_chr12_41183320_41579745	41429793	T T	TCTTATTT others(305): Show TCTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTTGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCA CTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCAC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0019 a0019	a0019c0051 a0019c0051	a0019c0051t0001 a0019c0051t0001	a0019c0051t0001g0144 a0019c0051t0001g0144	1	206	0.0049	312	c.844 others(331): Show c.844-76653_844-76652insTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTTGCCCAGGCCGGACTGCGGACTGCAGTGGCG CAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCG GCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAG GATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAA GTGCTGGGATTACAGGCGTGAGCCACCTTATTTTTT	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX10_chr1_2398974_2417564	2401341	T T	TCCTCCCT others(305): Show TCCTCCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTTCTTCCTCCCTCCT CCCTCCCTCCTCCCTCCCTCCTCCTCCCTCCTTCCTCCCTCCTTCCTCCT CCCTCCTTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCC CTTCTTCCTCCCTCCTCCTCCCTGCTTCCTCCTCCTCCCTCCTCCCCCTC CTCCCTCCCCCCTCCTCCCTCCCTCCTCCCCCCTCCTCCCTCCTTCCTCC CTCCTCCTCCCTCCCTCCTCCTTCCTCCCTCCTCCTTCCTCCCTCCTTCC TCCCTCCTCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0035 a0001c0002t0035	a0001c0002t0035g0123 a0001c0002t0035g0123	1	358	0.0028	312	c.44 others(323): Show c.4424_*4425insGGAGGAGGAGGGAGGAAGGAGGGAGGAAGGAGGA GGGAGGAAGGAGGAGGGAGGGAGGAGGAGGGAGGAAGGAGGGAGGAGGGG GGAGGAGGGAGGGAGGAGGGGGGAGGGAGGAGGGGGAGGAGGGAGGAGGA GGAAGCAGGGAGGAGGAGGGAGGAAGAAGGGAGGAGGGAGGAGGAGGGAG GAGGAGGGAGGAGGAGGGAGGAAGGAGGGAGGAGGAAGGAGGGAGGAAGG AGGGAGGAGGAGGGAGGGAGGAGGGAGGGAGGAGGGAGGAAGAAGGGAGG AGGAGGGAGGAAGGAGGGAGGAGGGAGG	PEX10	ENSG00000157911.11	transcript	ENST00000447513.7	protein_coding		2632		chr1	TogoVar
PEX5_chr12_7184686_7216459	7203222	T T	TAGACTAG others(305): Show TAGACTAGACTAGACGACTAGACTAGACTCTAGACTAGACACTAGACTAG ACTAGACACTAGACTAGACTAGACACTAGACTAGACTAGACACTAGACTA GACTATAGACTAGACACTAGACTAGACACTAGACTAGACTATAGACTAGA CACTAGACTAGACTATAGACTAGACACTAGACTAGACACTAGACTAGACT ATAGACTAGACACTAGACTAGACTATAGACTAGACTATAGACTAGACTAT ACTACACTACACTACACTACACTACACTACACTACACTACACTAACTAAA CACACAACACTAA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02148.hp1 HG01952.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0150 a0001c0001t0001g0144 a0001c0001t0001g0150	2	428	0.0047	312	c.847 others(327): Show c.847-209_847-208insGACTAGACTAGACGACTAGACTAGACTCTA GACTAGACACTAGACTAGACTAGACACTAGACTAGACTAGACACTAGACT AGACTAGACACTAGACTAGACTATAGACTAGACACTAGACTAGACACTAG ACTAGACTATAGACTAGACACTAGACTAGACTATAGACTAGACACTAGAC TAGACACTAGACTAGACTATAGACTAGACACTAGACTAGACTATAGACTA GACTATAGACTAGACTATACTACACTACACTACACTACACTACACTACAC TACACTACACTAACTAAACACACAACACTAAA	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PFKFB3_chr10_6197932_6240532	6229149	G G	GAAAAGAA others(305): Show GAAAAGAATGACTGGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCACGCCACTGCACTCTAGCCTGGGCGACAGAGCGAGATTCCGTCTCAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0032 a0006c0008t0032	a0006c0008t0032g0174 a0006c0008t0032g0174	1	432	0.0023	312	c.151 others(331): Show c.1515+2799_1515+2800insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCACGCCACTGCACTCTAGCCTGGGCGACAGAGCGAGATTCC GTCTCAAAAAAAAAAAAAAAAAAAAGAATGACTGGC	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
PHACTR4_chr1_28364740_28505364	28395818	A A	ATTTTTTT others(305): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGACTAC AGGCGCCCGCCACTACGCCCGGCTATTTTTTGTAGTTTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCTGAATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01257.hp1 NA18957.hp2 HG00639.hp1 HG01257.hp1 NA18957.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0003 a0002c0002t0002 a0002c0002t0003	a0002c0002t0002g0207 a0002c0002t0002g0212 a0002c0002t0003g0179 a0002c0002t0002g0207 a0002c0002t0002g0212 a0002c0002t0003g0179	3	228	0.0132	312	c.-38 others(331): Show c.-38-11568_-38-11567insTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGACTACA GGCGCCCGCCACTACGCCCGGCTATTTTTTGTAGTTTTTTAGTAGAGACG GGGTTTCACCGTTTTAGCCTGAATGGTCTCGATCTCCTGACCTCGTGATC CGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PHACTR4	ENSG00000204138.13	transcript	ENST00000373839.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PIGN_chr18_62036164_62192056	62046486	A A	AGGTTGTG others(305): Show AGGTTGTGCACTTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGAGGTTTCACCGTTTTAGCCGGGATGGTCTCGATATCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTCAGCC ACCGCGCCCAGCC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00673.hp2 others(11): Show HG00408.hp2 HG00438.hp1 HG00673.hp2 HG01496.hp2 HG02040.hp1 HG02056.hp2 HG03831.hp2 HG04184.hp1 NA18955.hp1 NA18990.hp2 NA18999.hp2 NA19084.hp2 NA19085.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0022 a0001c0001 a0001c0022	a0001c0001t0024 a0001c0001t0034 a0001c0001t0062 others(5): Show a0001c0001t0024 a0001c0001t0034 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0151 a0001c0001t0152 a0001c0022t0063	a0001c0001t0024g0327 a0001c0001t0024g0328 a0001c0001t0024g0337 others(11): Show a0001c0001t0024g0327 a0001c0001t0024g0328 a0001c0001t0024g0337 a0001c0001t0034g0325 a0001c0001t0034g0331 a0001c0001t0034g0335 a0001c0001t0062g0334 a0001c0001t0062g0339 a0001c0001t0063g0330 a0001c0001t0064g0326 a0001c0001t0064g0329 a0001c0001t0151g0333 a0001c0001t0152g0323 a0001c0022t0063g0332	14	342	0.0409	312	c.267 others(329): Show c.2673-508_2673-507insGGCTGGGCGCGGTGGCTGACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGATATC GAGACCATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAGAAGTGCACAACC	PIGN	ENSG00000197563.11	transcript	ENST00000640252.2	protein_coding	30/30			chr18	TogoVar
PIGN_chr18_62036164_62192056	62046486	A A	AGGTTGTG others(305): Show AGGTTGTGCACTTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGAGGTTTCACCGTTTTAGCCGGGATGGTCTCGATATCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTCAGCC ACCGCGCCCAGCC	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA19043.hp1 HG06807.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0150 a0001c0001t0024 a0001c0001t0150	a0001c0001t0024g0336 a0001c0001t0150g0324 a0001c0001t0024g0336 a0001c0001t0150g0324	2	342	0.0059	312	c.267 others(329): Show c.2673-508_2673-507insGGCTGGGCGCGGTGGCTGACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGATATC GAGACCATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAGAAGTGCACAACC	PIGN	ENSG00000197563.11	transcript	ENST00000640252.2	protein_coding	30/30			chr18	TogoVar
PIGN_chr18_62036164_62192056	62046486	A A	AGGTTGTG others(305): Show AGGTTGTGCACTTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGAGGTTTCACCGTTTTAGCCGGGATGGTCTCGATATCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTCAGCC ACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03471.hp2 HG03486.hp1 HG02615.hp2 HG03471.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0017 a0001c0001 a0001c0017	a0001c0001t0001 a0001c0001t0003 a0001c0017t0013 a0001c0001t0001 a0001c0001t0003 a0001c0017t0013	a0001c0001t0001g0179 a0001c0001t0003g0180 a0001c0017t0013g0199 a0001c0001t0001g0179 a0001c0001t0003g0180 a0001c0017t0013g0199	3	342	0.0088	312	c.267 others(329): Show c.2673-508_2673-507insGGCCGGGCGCGGTGGCTGACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGATATC GAGACCATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAGAAGTGCACAACC	PIGN	ENSG00000197563.11	transcript	ENST00000640252.2	protein_coding	30/30			chr18	TogoVar
PIGN_chr18_62036164_62192056	62046486	A A	AGGTTGTG others(305): Show AGGTTGTGCACTTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGAGGTTTCACCGTTTTAGCCGGGATGGTCTCGATATCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03098.hp1 HG02630.hp2 HG03098.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0019 a0001c0001 a0006c0019	a0001c0001t0130 a0006c0019t0125 a0001c0001t0130 a0006c0019t0125	a0001c0001t0130g0177 a0006c0019t0125g0181 a0001c0001t0130g0177 a0006c0019t0125g0181	2	342	0.0059	312	c.267 others(329): Show c.2673-508_2673-507insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGATATC GAGACCATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAGAAGTGCACAACC	PIGN	ENSG00000197563.11	transcript	ENST00000640252.2	protein_coding	30/30			chr18	TogoVar
PIGN_chr18_62036164_62192056	62046486	A A	AGGTTGTG others(305): Show AGGTTGTGCACTTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGAGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0126 a0001c0001t0126	a0001c0001t0126g0224 a0001c0001t0126g0224	1	342	0.0029	312	c.267 others(329): Show c.2673-508_2673-507insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAGAAGTGCACAACC	PIGN	ENSG00000197563.11	transcript	ENST00000640252.2	protein_coding	30/30			chr18	TogoVar
PIK3CB_chr3_138647698_138839928	138725203	T T	TAAGATTA others(305): Show TAAGATTAAAGATACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0205 a0001c0001t0003g0205	1	206	0.0049	312	c.105 others(331): Show c.1050+8157_1050+8158insTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCGTATCTTTAATCTT	PIK3CB	ENSG00000051382.9	transcript	ENST00000674063.1	protein_coding	8/23			chr3	TogoVar
PITPNM3_chr17_6446263_6561555	6455724	G G	GGAGGGGG others(305): Show GGAGGGGGGGAAGAGGGGAGGGGAGGGGAAGAGGGGAGGGGAGAGGGAAG GGAAGGGGAGGGGGAAGAGGGGAGGGAGAGGGAGGGAAGGAGGGGAAGGG GGGAAGAGGGGAGGGGGAGAAGGGAGGGGAAGAGGAAGGGGAGGGGAGGG GGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGAGGGAGGGGAAG GGGAAGGGAGGGAGGGGGAAGGGGGAAGGGAGGGAGGGGGAAGAGGGGAA GGGAGGGGAGGGGGAGGGGGAGGGGGAGGAGAGGGGAAGGGGGAAGAGGG GATGGGAGGGGAA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0088 a0002c0007t0088	a0002c0007t0088g0073 a0002c0007t0088g0073	1	218	0.0046	312	c.262 others(327): Show c.2620-82_2620-81insTTCCCCTCCCATCCCCTCTTCCCCCTTCCC CTCTCCTCCCCCTCCCCCTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTC CCTCCCTTCCCCCTTCCCCCTCCCTCCCTTCCCCTTCCCCTCCCTCCTTC CCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCCTTCC TCTTCCCCTCCCTTCTCCCCCTCCCCTCTTCCCCCCTTCCCCTCCTTCCC TCCCTCTCCCTCCCCTCTTCCCCCTCCCCTTCCCTTCCCTCTCCCCTCCC CTCTTCCCCTCCCCTCCCCTCTTCCCCCCCTC	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	19/19			chr17	TogoVar
PLAT_chr8_42169718_42212565	42182378	T T	TGTAGTGT others(305): Show TGTAGTGTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTTGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTAG GACTACAGGCGCCCGCCACTACGCCCGGCTATTTTTTGTAGTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02922.hp2 HG02976.hp2 others(6): Show HG02280.hp2 HG02922.hp2 HG02976.hp2 HG03139.hp1 HG03579.hp2 HG04228.hp2 NA18968.hp2 NA18973.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0118 a0001c0001t0001g0138 a0001c0001t0001g0147 others(6): Show a0001c0001t0001g0118 a0001c0001t0001g0138 a0001c0001t0001g0147 a0001c0001t0001g0192 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0306 a0001c0009t0001g0325	9	378	0.0238	312	c.803 others(327): Show c.803+340_803+341insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAACTACAAAA AATAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCTAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAGAACACTAC	PLAT	ENSG00000104368.19	transcript	ENST00000220809.9	protein_coding	8/13			chr8	TogoVar
PLAT_chr8_42169718_42212565	42182378	T T	TGTAGTGT others(305): Show TGTAGTGTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTTGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTAG GACTACAGGCGCCCGCCACTACGCCCGGCTATTTTTTGTAGTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02071.hp1 HG03492.hp1 others(3): Show HG02056.hp1 HG02071.hp1 HG03492.hp1 HG03654.hp2 NA18961.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0066 a0001c0001t0001g0153 a0001c0001t0001g0183 others(3): Show a0001c0001t0001g0066 a0001c0001t0001g0153 a0001c0001t0001g0183 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0002t0001g0112	6	378	0.0159	312	c.803 others(327): Show c.803+340_803+341insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAACTACAAAA AATAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCTAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAGAACACTAC	PLAT	ENSG00000104368.19	transcript	ENST00000220809.9	protein_coding	8/13			chr8	TogoVar
PLEKHG4B_chr5_87168_194966	165677	G G	GGCTCACA others(305): Show GGCTCACACTAATGCTGTGACGGGGCGGGGCTCACACAGTAATGCTGTGA CGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACACTAATG CTCTGACGGGGCGGGGCTCACACTAACGCTCTGACGGGGCGGGGCTCACA GTAATCCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGG CTCACACTAATGCTCTGACGGGGCGGGGCTCACACTAATGCTGTGACGGG GCGGAGCTCACACAGTAATGCTGTGACGGGGCGGAGCTCACACTAATGCT CTGACGGGGCGGA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0008 a0008	a0008c0024 a0008c0024	a0008c0024t0021 a0008c0024t0021	a0008c0024t0021g0176 a0008c0024t0021g0176	1	210	0.0048	312	c.347 others(331): Show c.3476+2144_3476+2145insGTGACGGGGCGGGGCTCACACAGTAA TGCTGTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCA CACTAATGCTCTGACGGGGCGGGGCTCACACTAACGCTCTGACGGGGCGG GGCTCACAGTAATCCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACG GGGCGGGGCTCACACTAATGCTCTGACGGGGCGGGGCTCACACTAATGCT GTGACGGGGCGGAGCTCACACAGTAATGCTGTGACGGGGCGGAGCTCACA CTAATGCTCTGACGGGGCGGAGCTCACACTAATGCT	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHN1_chr1_961482_980865	976938	G G	GCAACCCC others(305): Show GCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCC TCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT CCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGG AACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCC CCACCAACCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCG CCTGCCCCCGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18939.hp2 NA18951.hp2 NA18747.hp2 NA18939.hp2 NA18951.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0007 a0004c0031 a0001c0001 a0001c0007 a0004c0031	a0001c0001t0001 a0001c0007t0001 a0004c0031t0001 a0001c0001t0001 a0001c0007t0001 a0004c0031t0001	a0001c0001t0001g0001 a0001c0007t0001g0146 a0004c0031t0001g0111 a0001c0001t0001g0001 a0001c0007t0001g0146 a0004c0031t0001g0111	3	422	0.0071	312	c.23 others(323): Show c.2363_*2364insCAACCCCGGGAACCGCCTCCCACTCCCCCCACCA ACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCC ACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGG GAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCC CCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAAC CGCCTCCCACTCCCCCCACCAACCCGGGAACCGCCTCCCACTCCCCCCAC CAACCCCGGGAACCGCCTGCCCCCGCCA	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1074		chr1	TogoVar
PLEKHN1_chr1_961482_980865	976939	C C	CAACCCCG others(305): Show CAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCT CCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCC CGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACT CCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGG AACCGCCTCCCACTCCCCCCACCAACCCGGGAACCGCCTCCCACTCCCCC CACCAACCCCGGGAACCGCCTGCCCCCGCCACCAACCCCGGGAACCGCCT CCCACTCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0018 a0003c0005t0001g0018	1	422	0.0024	312	c.23 others(323): Show c.2364_*2365insAACCCCGGGAACCGCCTCCCACTCCCCCCACCAA CCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCA CTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGG GAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCC CCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCGGGAACC GCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTGCCCCCGCCACCAA CCCCGGGAACCGCCTCCCACTCCCCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1075		chr1	TogoVar
PLN_chr6_118543296_118566716	118555851	T T	TTCATAAG others(305): Show TTCATAAGTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGGGTGCAGTGGCGCGACCTCGGCTCACTGCAAGCTC CACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCCGG GACCACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGGCGGGGTTTCACCGCGTTAGCCAGGATGGTCTCGATCTCCTGACCTC ATGATCCGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02572.hp1 NA19240.hp2 HG02280.hp2 HG02572.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0025 a0001c0001t0015 a0001c0001t0025	a0001c0001t0015g0052 a0001c0001t0015g0153 a0001c0001t0025g0052 a0001c0001t0015g0052 a0001c0001t0015g0153 a0001c0001t0025g0052	3	384	0.0078	312	c.-97 others(329): Show c.-97-2962_-97-2961insTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGGGTGCAGTGGCGCGACCTCGGCTCAC TGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCCGGGACCACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGGCGGGGTTTCACCGCGTTAGCCAGGATGGTCTCGATCT CCTGACCTCATGATCCGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCTCATAAGTTCTT	PLN	ENSG00000198523.6	transcript	ENST00000357525.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA7_chr9_137454952_137555402	137518293	T T	TCACTCAC others(305): Show TCACTCACTCCACTCTACTCACTCCATCCTCACTCACTCACTCCACTCTG CTCACTCCATCCCCCACTCACTCACTCCACTCTGTCCACTCCATCCTCAC TCACTCACTCCACCCTATCCACTCCATCCCCCACTCACTCACTCCACTCT GTCCACTCCATCCCCCACTCACTCCCTCCACTCTACTCACTCCATCCCAC ACTCACTCATTCCACTCTGTCCACTCCATCCCTCACTCACTCACTCCACT CTGTCCACTCCATCCCCCACTCACGCACTCACTCCACTCTGTCCACTCCA TCCCCCACTCACG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	188	0.0053	312	c.108 others(331): Show c.1084+1623_1084+1624insCGTGAGTGGGGGATGGAGTGGACAGA GTGGAGTGAGTGCGTGAGTGGGGGATGGAGTGGACAGAGTGGAGTGAGTG AGTGAGGGATGGAGTGGACAGAGTGGAATGAGTGAGTGTGGGATGGAGTG AGTAGAGTGGAGGGAGTGAGTGGGGGATGGAGTGGACAGAGTGGAGTGAG TGAGTGGGGGATGGAGTGGATAGGGTGGAGTGAGTGAGTGAGGATGGAGT GGACAGAGTGGAGTGAGTGAGTGGGGGATGGAGTGAGCAGAGTGGAGTGA GTGAGTGAGGATGGAGTGAGTAGAGTGGAGTGAGTG	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	11/34			chr9	TogoVar
PPM1L_chr3_160751231_161083902	160945128	T T	TAACATGT others(305): Show TAACATGTTATATATAACTATATATAACATGTTATATATAACTATATATA ACATGTTATATATAACTATATATAACATGTTATATATAACTATATATAAC ATGTTATATATAACTATATATAACATGTTATATATAACTATATATAACAT GTTATATATAACTATATATAACATGTTATATATAACTATATATAACATGT TATATATAACTATATATAACATGTTATATATAACTATATATAACATGTTA TATATAACTATATATAACATGTTATATATAACTATATATAACATGTTATA TATAACATATATG	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02922.hp2 HG02293.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0089 a0001c0001t0003g0163 a0001c0001t0002g0089 a0001c0001t0003g0163	2	206	0.0097	312	c.400 others(331): Show c.400-16608_400-16607insAACATGTTATATATAACTATATATAA CATGTTATATATAACTATATATAACATGTTATATATAACTATATATAACA TGTTATATATAACTATATATAACATGTTATATATAACTATATATAACATG TTATATATAACTATATATAACATGTTATATATAACTATATATAACATGTT ATATATAACTATATATAACATGTTATATATAACTATATATAACATGTTAT ATATAACTATATATAACATGTTATATATAACTATATATAACATGTTATAT ATAACTATATATAACATGTTATATATAACATATATG	PPM1L	ENSG00000163590.14	transcript	ENST00000498165.6	protein_coding	1/3			chr3	TogoVar
PPP1R13B_chr14_103728195_103852575	103760096	T T	TAAAAACA others(305): Show TAAAAACATAAGCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGTTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0010 a0001c0006t0010	a0001c0006t0010g0187 a0001c0006t0010g0187	1	332	0.0030	312	c.355 others(329): Show c.355-2346_355-2345insTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAACTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCAGCTTATGTTTTT	PPP1R13B	ENSG00000088808.18	transcript	ENST00000202556.14	protein_coding	4/16			chr14	TogoVar
PRKACA_chr19_14086688_14122762	14090084	C C	CCGGCGGC others(305): Show CCGGCGGCTGTGGCGGCGGCGGCAGCGGCGGCTCCCGGGCGGCGACGGCG GGCGGGGGGGCGCGGCGCGGGCCGGCCGGGGGCGCCACCGCCGGGGGAGC GGCTGGCGCGGGCGGCGGCGCGGCCAGGGGCGCGGCCCGCTGCGCGCGGG GGCCCGGCTGCGCGGGGCCAGGCGAGGGGGGCGCTGTGGCGGCGGCGGCG GCCGCGCGGGGCGCCCGGGCCGGGGCGGCGGCGGCGACGGGCGCGGGCGG TGGCGGCGGGGCGGGCGTGGGCGGCGGCGCGGCGGCGGCGGCGGGGGCCC CGCGGGGGGCGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02965.hp1 NA19240.hp1 HG02280.hp2 HG02965.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0299 a0001c0001t0002g0018 a0001c0001t0002g0299	3	358	0.0084	312	c.30 others(323): Show c.3027_*3028insCGCGCCCCCCGCGGGGCCCCCGCCGCCGCCGCCG CGCCGCCGCCCACGCCCGCCCCGCCGCCACCGCCCGCGCCCGTCGCCGCC GCCGCCCCGGCCCGGGCGCCCCGCGCGGCCGCCGCCGCCGCCACAGCGCC CCCCTCGCCTGGCCCCGCGCAGCCGGGCCCCCGCGCGCAGCGGGCCGCGC CCCTGGCCGCGCCGCCGCCCGCGCCAGCCGCTCCCCCGGCGGTGGCGCCC CCGGCCGGCCCGCGCCGCGCCCCCCCGCCCGCCGTCGCCGCCCGGGAGCC GCCGCTGCCGCCGCCGCCACAGCCGCCG	PRKACA	ENSG00000072062.16	transcript	ENST00000308677.9	protein_coding		1603		chr19	TogoVar
PRKCA_chr17_66297613_66815743	66798644	G G	GTGATGGT others(305): Show GTGATGGTAATGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGAT GGTAATGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTAA TGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTAATGGTG GTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTAATGGTGGTGGTGATGG TGGTGGTGGTGGTGGTGGTGGTGATGGTAATGGTGGTGGTGATGGTGATG GTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0014 a0001c0002t0003g0014	1	178	0.0056	312	c.185 others(331): Show c.1855-5227_1855-5226insATGGTAATGGTGGTGGTGATGGTGGT GGTGGTGGTGGTGGTGGTGATGGTAATGGTGGTGGTGATGGTGGTGGTGG TGGTGGTGGTGGTGATGGTAATGGTGGTGGTGATGGTGGTGGTGGTGGTG GTGGTGGTGATGGTAATGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGT GGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGA TGGTAATGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTA ATGGTGGTGGTGATGGTGATGGTGGTGGTGGTGATG	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCI_chr3_170217424_170310977	170233220	T T	TTTGGGGG others(305): Show TTTGGGGGTTTATTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCTGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCC	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	342	0.0029	312	c.102 others(329): Show c.102-1994_102-1993insTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCCTTGGGGGTTTATTTTT	PRKCI	ENSG00000163558.13	transcript	ENST00000295797.5	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
PRKCZ_chr1_2045411_2190395	2123047	C C	CACGGTGG others(305): Show CACGGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGG TCACGGTGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTC GTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTTGT GGTGGTTAGGGTCGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGG TGGTTAGGGTTGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCGTGGCG GTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGT GGTTAGGGTCACG	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	286	0.0035	312	c.335 others(331): Show c.335-12215_335-12214insACGGTGGTGGTTAGGGTTGTGGTGGT TAGGGTCGTGGCGGTGGTTAGGGTCACGGTGGTGGTTAGGGTTGTGGTGG TTAGGGTTGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTT AGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGTGGTTAGGGT CGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCG TGGCGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCGTGGCGGTGGTTAGG GTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCACG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17			chr1	TogoVar
PRRX2_chr9_129660647_129727674	129689821	T T	TGGCTCAC others(305): Show TGGCTCACTGCAACCTCTGTCTCCCGGGTTCAAGTGATTCTCCTGCCTCA GTCTCCAGAGTAGCTGGAATTACAGGCATGCGCCACCACACCAGCTAATT TTTGTATTTGTAGTAGGGACGGGGTTTCGCCATGTTAGTCAGGCTGGTCT CAAACTGCTGACCTCAGGTGATTCGCCCGTCTCAGCCTCCCAACGTGTTG GGATTACAGGCATGAGCCACTGTGCCCAGCCAATGGCATCTTTTTTTTTT TTTTTCTTTTTCTGAGATGAAGTCTCACTCTGTTGCCAGGCTGGAGTGCA GTGGCGTGATCTC	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0021 a0001c0001t0008g0021	1	358	0.0028	312	c.259 others(331): Show c.259+23719_259+23720insGGGTTCAAGTGATTCTCCTGCCTCAG TCTCCAGAGTAGCTGGAATTACAGGCATGCGCCACCACACCAGCTAATTT TTGTATTTGTAGTAGGGACGGGGTTTCGCCATGTTAGTCAGGCTGGTCTC AAACTGCTGACCTCAGGTGATTCGCCCGTCTCAGCCTCCCAACGTGTTGG GATTACAGGCATGAGCCACTGTGCCCAGCCAATGGCATCTTTTTTTTTTT TTTTCTTTTTCTGAGATGAAGTCTCACTCTGTTGCCAGGCTGGAGTGCAG TGGCGTGATCTCGGCTCACTGCAACCTCTGTCTCCC	PRRX2	ENSG00000167157.11	transcript	ENST00000372469.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRX2_chr9_129660647_129727674	129689821	T T	TGGCTCAC others(305): Show TGGCTCACTGCAACCTCTGTCTCCCGGGTTCAAGTGATTCTCCTGCCTCA GTCTCCAGAGTAGCTGGAATTACAGGCATGCGCCACCACACCCAGCTAAT TTTTGTATTTGTAGTAGGGACGGGGTTTCGCCATGTTAGTCAGGCTGGTC TCAAACTGCTGACCTCAGGTGATTCGCCCGTCTCAGCCTCCCAACGTGTT GGGATTACAGGCATGAGCCACTGTGCCCAGCCAATGGCATCTTTTTTTTT TTTTTCTTTTTCTGAGATGAAGTCTCACTCTGTTGCCAGGCTGGAGTGCA GTGGCGTGATCTC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02723.hp1 HG02886.hp2 others(4): Show HG02486.hp1 HG02723.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02965.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0002g0313 a0001c0001t0003g0263 a0001c0001t0003g0307 others(4): Show a0001c0001t0002g0313 a0001c0001t0003g0263 a0001c0001t0003g0307 a0001c0001t0005g0065 a0001c0001t0005g0276 a0001c0001t0005g0277 a0001c0001t0005g0306	7	358	0.0196	312	c.259 others(331): Show c.259+23719_259+23720insGGGTTCAAGTGATTCTCCTGCCTCAG TCTCCAGAGTAGCTGGAATTACAGGCATGCGCCACCACACCCAGCTAATT TTTGTATTTGTAGTAGGGACGGGGTTTCGCCATGTTAGTCAGGCTGGTCT CAAACTGCTGACCTCAGGTGATTCGCCCGTCTCAGCCTCCCAACGTGTTG GGATTACAGGCATGAGCCACTGTGCCCAGCCAATGGCATCTTTTTTTTTT TTTTCTTTTTCTGAGATGAAGTCTCACTCTGTTGCCAGGCTGGAGTGCAG TGGCGTGATCTCGGCTCACTGCAACCTCTGTCTCCC	PRRX2	ENSG00000167157.11	transcript	ENST00000372469.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRUNE2_chr9_76606376_76911114	76836354	A A	ACACAAAA others(305): Show ACACAAAAAAATCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGTTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01070.hp2 HG01071.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0013 a0007c0007t0013	a0007c0007t0013g0198 a0007c0007t0013g0201 a0007c0007t0013g0198 a0007c0007t0013g0201	2	240	0.0083	312	c.509 others(329): Show c.509-9623_509-9622insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGAACATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAGATTTTTTTGTG	PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	4/18			chr9	TogoVar
PTCD2_chr5_72315373_72373395	72339706	T T	TAGTTTTT others(305): Show TAGTTTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp1 HG01243.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0061 a0001c0001t0011g0066 a0001c0001t0011g0061 a0001c0001t0011g0066	2	328	0.0061	312	c.753 others(327): Show c.753+982_753+983insTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCAGTTTTTCTTT	PTCD2	ENSG00000049883.15	transcript	ENST00000380639.10	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAB11FIP3_chr16_420649_528011	458405	C C	CCTCGGGT others(305): Show CCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCA CCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATGCTCAC AGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGG GGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCG GGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGAT GCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGC CTGGGGGGCCTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0010 a0010	a0010c0022 a0010c0022	a0010c0022t0037 a0010c0022t0037	a0010c0022t0037g0100 a0010c0022t0037g0100	1	295	0.0034	312	c.715 others(329): Show c.715-2911_715-2910insGTGATGCTCACAGGGCCTGGGGGGCCTT CCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCA CCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCAC AGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGG GGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTTCTCG GGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGAT GCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCA	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	492424	T T	TTCCCGGG others(305): Show TTCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGG CCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCG GGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCA GAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACC CGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGTCCAGGGCCCT CCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGGAGACCCGAGGCC GCCCAGGGCCCTC	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0272 a0001c0001t0006g0272	1	295	0.0034	312	c.126 others(331): Show c.1265+3424_1265+3425insTCCCGGGGAGACCCGAGGCCGCCCAG GGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCC GAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTC CCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCG CCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGA GACCCGAGGCCGTCCAGGGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGC CCTCCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13			chr16	TogoVar
RAB11FIP3_chr16_420649_528011	492486	C C	CTCCCCGG others(305): Show CTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGG CCGCCCAGGGCCCTCCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCC GGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCC AGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGAC CCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGTCCAGGGCCC TCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGC CGTCCAGGGCCCT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0093 a0002c0003t0002g0093	1	295	0.0034	312	c.126 others(331): Show c.1265+3490_1265+3491insCGGGAGACCCGAGGCCGCCCAGGGCC CTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGGAGACCCGAG GCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCC GGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCC AGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGAC CCGAGGCCGTCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCC TCCCCGGGAGACCCGAGGCCGTCCAGGGCCCTTCCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RABL3_chr3_120679938_120747516	120706613	A A	ACAATTGC others(305): Show ACAATTGCTATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAG CTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCATGATCCACC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0165 a0001c0001t0004g0165	1	354	0.0028	312	c.269 others(327): Show c.269-500_269-499insGGTGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAGAATAGCAATTG	RABL3	ENSG00000144840.10	transcript	ENST00000273375.8	protein_coding	3/7			chr3	TogoVar
RASAL2_chr1_178089104_178483850	178428464	T T	TGATTTTA others(305): Show TGATTTTAGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTGTTAGCCAGAATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01891.hp2 HG01175.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0105 a0001c0001t0002g0118 a0001c0001t0002g0105 a0001c0001t0002g0118	2	180	0.0111	312	c.674 others(329): Show c.674+7857_674+7858insTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGAATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCGATTTTAGCTTTT	RASAL2	ENSG00000075391.18	transcript	ENST00000367649.8	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
RBFOX1_chr16_6014024_7718340	6372907	C C	CGTAGTTG others(305): Show CGTAGTTGGTTAGGATTGTTGGGTAGGAGGATTGTTGTGTAGAATGGAGA TTGGGTGGAAGTATAGTCGGATGGGAGGATGGTTGGTAAGGATCTTTGGG TAGGAGGATGGTTGGATGGAATGGAGATTCAGTGGCAGAGTATAGTTGGA TGGAAGGATAGTTCATTGTGATCACTGGGTAGGAGTATTGTTGGGTGGAA TGGAGATTGGGTGGAAGTATAACTGGATGGGAGGATGGTTGGTTAGGATC TTTGGGTAGGAGTACGGTCGGGTGGAATGGAGATTTGATGGAAGAGTATA GTTGGATGGAAGT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	68	0.0147	312	c.-64 others(331): Show c.-64+55927_-64+55928insATGGTTGGTAAGGATCTTTGGGTAGG AGGATGGTTGGATGGAATGGAGATTCAGTGGCAGAGTATAGTTGGATGGA AGGATAGTTCATTGTGATCACTGGGTAGGAGTATTGTTGGGTGGAATGGA GATTGGGTGGAAGTATAACTGGATGGGAGGATGGTTGGTTAGGATCTTTG GGTAGGAGTACGGTCGGGTGGAATGGAGATTTGATGGAAGAGTATAGTTG GATGGAAGTGTAGTTGGTTAGGATTGTTGGGTAGGAGGATTGTTGTGTAG AATGGAGATTGGGTGGAAGTATAGTCGGATGGGAGG	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBMS2_chr12_56516820_56601193	56558297	C C	CGGCCTCC others(305): Show CGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGTTCTGT CACCCAAGCTGGAGTGCAATGATGCAATCTTGTCTCACTGCACCTTTGCC TCCCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCGAATAGGTGGGATT ACAGGCATGTGGCACCATGCCCGGCTAATTTTTGTATTTTTAATAGAGAT GGGGTTTTGCCATATTGGCCAGGCTGGTCTTGAACTCCTGACATCAAGTG AACCACCCGCCTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02630.hp1 HG02145.hp2 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0011 a0001c0002t0010 a0001c0002t0011	a0001c0002t0010g0123 a0001c0002t0011g0124 a0001c0002t0010g0123 a0001c0002t0011g0124	2	280	0.0071	312	c.67- others(327): Show c.67-4083_67-4082insTGCGCCTGGCCTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACAGAGTTTTGTTCTGTCACCCAAGCTGGAGTGCA ATGATGCAATCTTGTCTCACTGCACCTTTGCCTCCCGGGTTCAAGCGATT CTTCTGCCTCAGCCTCCCGAATAGGTGGGATTACAGGCATGTGGCACCAT GCCCGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTTGCCATATTGG CCAGGCTGGTCTTGAACTCCTGACATCAAGTGAACCACCCGCCTTGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCAC	RBMS2	ENSG00000076067.14	transcript	ENST00000262031.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr12	TogoVar

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