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
PCDHGA4_chr5_141350021_141517975	141407491	A A	ATTTCTGT others(213): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAG TGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTAC GCCCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0273 a0002c0011t0001g0273	1	274	0.0037	220	c.251 others(241): Show c.2514+49884_2514+49885insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGG TTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCG CCCGCCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA4	ENSG00000262576.3	transcript	ENST00000571252.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA5_chr5_141359162_141517975	141407491	A A	ATTTCTGT others(213): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAG TGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTAC GCCCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0117 a0001c0013t0001g0117	1	292	0.0034	220	c.242 others(241): Show c.2421+40754_2421+40755insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGG TTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCG CCCGCCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA5	ENSG00000253485.3	transcript	ENST00000518069.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA6_chr5_141368891_141517975	141407491	A A	ATTTCTGT others(213): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAG TGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTAC GCCCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0268 a0001c0023t0001g0268	1	292	0.0034	220	c.242 others(241): Show c.2424+30998_2424+30999insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGG TTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCG CCCGCCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA6	ENSG00000253731.3	transcript	ENST00000517434.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA7_chr5_141377742_141517975	141407491	A A	ATTTCTGT others(213): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAG TGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTAC GCCCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0264 a0001c0022t0001g0264	1	292	0.0034	220	c.242 others(241): Show c.2424+22182_2424+22183insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGG TTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCG CCCGCCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA7	ENSG00000253537.3	transcript	ENST00000518325.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA8_chr5_141387633_141517975	141407491	A A	ATTTCTGT others(213): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAG TGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTAC GCCCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0008 a0001c0019t0001g0008	1	302	0.0033	220	c.242 others(241): Show c.2424+12268_2424+12269insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGG TTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCG CCCGCCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA8	ENSG00000253767.3	transcript	ENST00000398604.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA9_chr5_141397778_141517975	141407491	A A	ATTTCTGT others(213): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAG TGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTAC GCCCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0285 a0001c0018t0001g0285	1	302	0.0033	220	c.242 others(239): Show c.2424+2129_2424+2130insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCT GGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTT CATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCC CGCCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA9	ENSG00000261934.3	transcript	ENST00000573521.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB1_chr5_141345099_141517975	141407491	A A	ATTTCTGT others(213): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAG TGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTAC GCCCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0021 a0002c0021	a0002c0021t0001 a0002c0021t0001	a0002c0021t0001g0030 a0002c0021t0001g0030	1	278	0.0036	220	c.240 others(241): Show c.2409+54836_2409+54837insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGG TTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCG CCCGCCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGB1	ENSG00000254221.3	transcript	ENST00000523390.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB2_chr5_141354994_141517975	141407491	A A	ATTTCTGT others(213): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAG TGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTAC GCCCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0001 a0003c0016t0001	a0003c0016t0001g0267 a0003c0016t0001g0267	1	288	0.0035	220	c.242 others(241): Show c.2421+44949_2421+44950insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGG TTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCG CCCGCCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGB2	ENSG00000253910.3	transcript	ENST00000522605.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB3_chr5_141365242_141517975	141407491	A A	ATTTCTGT others(213): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAG TGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTAC GCCCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0003 a0003	a0003c0023 a0003c0023	a0003c0023t0001 a0003c0023t0001	a0003c0023t0001g0274 a0003c0023t0001g0274	1	296	0.0034	220	c.241 others(241): Show c.2415+34696_2415+34697insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGG TTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCG CCCGCCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGB3	ENSG00000262209.3	transcript	ENST00000576222.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB4_chr5_141382698_141517975	141407491	A A	ATTTCTGT others(213): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAG TGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTAC GCCCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0008 a0001c0017t0001g0008	1	294	0.0034	220	c.239 others(241): Show c.2397+17224_2397+17225insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGG TTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCG CCCGCCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGB4	ENSG00000253953.3	transcript	ENST00000519479.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB5_chr5_141392947_141517975	141407491	A A	ATTTCTGT others(213): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAG TGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTAC GCCCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0002 a0004c0012t0002	a0004c0012t0002g0021 a0004c0012t0002g0021	1	300	0.0033	220	c.239 others(239): Show c.2397+6981_2397+6982insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCT GGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTT CATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCC CGCCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGB5	ENSG00000276547.2	transcript	ENST00000617380.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB6_chr5_141403021_141517975	141407491	A A	ATTTCTGT others(213): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAG TGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTAC GCCCGGCTAATTTTTTGCATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0024 a0002c0024	a0002c0024t0001 a0002c0024t0001	a0002c0024t0001g0176 a0002c0024t0001g0176	1	302	0.0033	220	c.-71 others(229): Show c.-712_-711insTTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG CGCCCGCCACTACGCCCGGCTAATTTTTTGCATT	PCDHGB6	ENSG00000253305.3	transcript	ENST00000520790.2	protein_coding		529		chr5	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CGATAGAT others(213): Show CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	436	0.0023	220	c.-26 others(231): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCGATAGATACATCTATCTA TCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCGF3_chr4_700832_775089	708059	G G	GTCGGGAC others(213): Show GTCGGGACCCTGGGACAGCCCTGTTTTCCCCTGGGGGTCGGGACCCTGGG ACAGCCCTGTTTTCCCCTGGGGGTCGGGACCCTGGGACAGCCCTGTTTTC CCCTGGGGGCCCGGGACCCTGGGACAGCCCTGTTTTCACCTGGGGGCCCG GGACCCTGGGACAGCCCTGTTTTCACCTGGGGGCCCGGGACCCTGGGACA GCCCTGTTTTCCCCTGGGGGC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02280.hp2 HG02818.hp1 others(2): Show HG02055.hp1 HG02280.hp2 HG02818.hp1 HG02965.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0025 a0001c0001t0026 a0001c0001t0004 a0001c0001t0025 a0001c0001t0026	a0001c0001t0004g0117 a0001c0001t0025g0115 a0001c0001t0025g0116 others(2): Show a0001c0001t0004g0117 a0001c0001t0025g0115 a0001c0001t0025g0116 a0001c0001t0026g0113 a0001c0001t0026g0114	5	366	0.0137	220	c.-19 others(239): Show c.-190+2089_-190+2090insTCGGGACCCTGGGACAGCCCTGTTTT CCCCTGGGGGTCGGGACCCTGGGACAGCCCTGTTTTCCCCTGGGGGTCGG GACCCTGGGACAGCCCTGTTTTCCCCTGGGGGCCCGGGACCCTGGGACAG CCCTGTTTTCACCTGGGGGCCCGGGACCCTGGGACAGCCCTGTTTTCACC TGGGGGCCCGGGACCCTGGGACAGCCCTGTTTTCCCCTGGGGGC	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	1/10			chr4	TogoVar
PCSK6_chr15_101298933_101494707	101493369	T T	TTCCCTCC others(213): Show TTCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCC ACTTCCCCTCCCTCTCCCCTGCCCTCCCCCTCCCCCTCCCTCATCCCCTC CCCCCTCCCCCTCCCCCTCCCCTCCCCCATCCCCTCCCCACTCCCCCTCC CCCTCCCCACTCCCCCTCCCCCTCCCCTGCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0214 a0001c0011t0001g0214	1	336	0.0030	220	c.-37 others(231): Show c.-3700_-3699insGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGGAGGGCAGGGGAGGGGGAGGGGGAGTGGGGAGGGGGAGGGGGAGTGG GGAGGGGATGGGGGAGGGGAGGGGGAGGGGGAGGGGGGAGGGGATGAGGG AGGGGGAGGGGGAGGGCAGGGGAGAGGGAGGGGAAGTGGGGAGGGGAGGG GGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding		3663		chr15	TogoVar
PCSK6_chr15_101298933_101494707	101493369	T T	TTCCCTCC others(213): Show TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCA CTTCCCCTCCCTCTCCCCTGCCCTCCCCCTCCCCCTCCCTCATCCCCTCC CCCCCTCCCCCTCCCCCTCCCCTCCCCCATCCCCTCCCCACTCCCCCTCC CCCTCCCCACTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0178 a0001c0001t0002g0178	1	336	0.0030	220	c.-37 others(231): Show c.-3700_-3699insGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGGAGGGGAGGGGAGGGGGAGGGGGAGTGGGGAGGGGGAGGGGGAGTGG GGAGGGGATGGGGGAGGGGAGGGGGAGGGGGAGGGGGGGAGGGGATGAGG GAGGGGGAGGGGGAGGGCAGGGGAGAGGGAGGGGAAGTGGGGAGGGGAGG GGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding		3663		chr15	TogoVar
PCSK6_chr15_101298933_101494707	101493369	T T	TTCCCTCC others(213): Show TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCA CTTCCCCTCCCTCTCCCCTGCCCTCCCCCTCCCCCTCCCTCATCCCCTCC CCCCCTCCCCCTCCCCCTCCCCTCCCCCATCCCCTCCCCACTCCCCCTCC CCCTCCCCACTCCCCCTCCCCCTCCCCTGCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp2 HG02738.hp2 others(1): Show HG02135.hp1 HG02135.hp2 HG02738.hp2 NA18955.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0005 a0001c0009 others(1): Show a0001c0001 a0001c0005 a0001c0009 a0007c0022	a0001c0001t0002 a0001c0005t0001 a0001c0009t0001 others(1): Show a0001c0001t0002 a0001c0005t0001 a0001c0009t0001 a0007c0022t0001	a0001c0001t0002g0250 a0001c0005t0001g0220 a0001c0009t0001g0155 others(1): Show a0001c0001t0002g0250 a0001c0005t0001g0220 a0001c0009t0001g0155 a0007c0022t0001g0211	4	336	0.0119	220	c.-37 others(231): Show c.-3700_-3699insGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGGAGGGCAGGGGAGGGGGAGGGGGAGTGGGGAGGGGGAGGGGGAGTGG GGAGGGGATGGGGGAGGGGAGGGGGAGGGGGAGGGGGGGAGGGGATGAGG GAGGGGGAGGGGGAGGGCAGGGGAGAGGGAGGGGAAGTGGGGAGGGGAGG GGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding		3663		chr15	TogoVar
PCSK6_chr15_101298933_101494707	101493369	T T	TTCCCTCC others(213): Show TTCCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCC ACTTCCCCTCCCTCTCCCCTGCCCTCCCCCTCCCCCTCCCTCATCCCCTC CCCCCTCCCCCTCCCCCTCCCCTCCCCCATCCCCTCCCCACTCCCCCTCC CCCTCCCCACTCCCCCTCCCCCTCCCCTGCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0215 a0001c0002t0001g0215	1	336	0.0030	220	c.-37 others(231): Show c.-3700_-3699insGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGGAGGGCAGGGGAGGGGGAGGGGGAGTGGGGAGGGGGAGGGGGAGTGG GGAGGGGATGGGGGAGGGGAGGGGGAGGGGGAGGGGGGAGGGGATGAGGG AGGGGGAGGGGGAGGGCAGGGGAGAGGGAGGGGAAGTGGGGAGGGGAGGG GGAGGGGGAGGGGAGGGGAGAGGGGGAGGGGAGGGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding		3663		chr15	TogoVar
PDE10A_chr6_165322289_165668241	165619009	C C	CTAGCATA others(213): Show CTAGCATAGTCTAGTGTAGTGTAGTGTAGTCTAGTGTGGTGTAGTGTAGT GTAGTGTAGTCTAGTGTAGTGTAGTCTAGCATAGTCTAGTGTAGTGTAGT CTAGTGTCGTGTAGTGTAGTGTAGTCTAGTGTAGTGTAGTGTAGTCTAGT GTAGTGTAGTCTAGTGTAGTGCAGTGTAGACTAGTGTAGTGTAGACTAGT GTAGTGTAGTGTAGTCTAGCG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0005 a0001c0015t0005	a0001c0015t0005g0210 a0001c0015t0005g0210	1	222	0.0045	220	c.865 others(239): Show c.865+42937_865+42938insCGCTAGACTACACTACACTACACTAG TCTACACTACACTAGTCTACACTGCACTACACTAGACTACACTACACTAG ACTACACTACACTACACTAGACTACACTACACTACACGACACTAGACTAC ACTACACTAGACTATGCTAGACTACACTACACTAGACTACACTACACTAC ACTACACCACACTAGACTACACTACACTACACTAGACTATGCTA	PDE10A	ENSG00000112541.19	transcript	ENST00000539869.4	protein_coding	1/21			chr6	TogoVar
PHACTR3_chr20_59599540_59852711	59822000	A A	AATCCCAC others(213): Show AATCCCACCCCTTCCCCAGCAATCCCACCCCTTCCCCAGCAATCCCACCC CTTCCCCAGCAATCCCACCCCTTCCCCAGCAATCCCACCCCTTCCCCAGC AATCCCACCCCTTCCCCAGCAATCCCACCCCTTCCCCAGCAATCCCACCC CTTCCCCAGCGATCCCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGC GATCCCACCCCTTCCCCAGCG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03195.hp1 HG02572.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0122 a0001c0001t0007g0089 a0001c0001t0003g0122 a0001c0001t0007g0089	2	250	0.0080	220	c.132 others(241): Show c.1329-14486_1329-14485insAATCCCACCCCTTCCCCAGCAATC CCACCCCTTCCCCAGCAATCCCACCCCTTCCCCAGCAATCCCACCCCTTC CCCAGCAATCCCACCCCTTCCCCAGCAATCCCACCCCTTCCCCAGCAATC CCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGCGATCCCACCCCTTC CCCAGCGATCCCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGC	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHKA1_chrX_72573814_72719306	72710731	T T	TGAAAAAT others(213): Show TGAAAAATTATTTCATGGTGAAACCCCGTCTCTACTAAAAAAATACAAAA AAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGA GGCTGAGGCAGGAGAATGACCTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCGCACCACTGCACTCCAGCCTTGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02258.hp1 HG02280.hp1 others(2): Show HG01884.hp1 HG02258.hp1 HG02280.hp1 HG02486.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0005 a0001c0002t0004g0006 a0001c0002t0004g0007 others(2): Show a0001c0002t0004g0005 a0001c0002t0004g0006 a0001c0002t0004g0007 a0001c0002t0004g0008 a0001c0002t0004g0009	5	237	0.0211	220	c.237 others(237): Show c.237+2047_237+2048insTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCAAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCAGGTCATTCTCCTGCCTCAGCCTCCCCAG TAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTGTA TTTTTTTAGTAGAGACGGGGTTTCACCATGAAATAATTTTTC	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	2/31			chrX	TogoVar
PLCL2_chr3_16879955_17095604	17063252	C C	CCCTCCCT others(213): Show CCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTTCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCT CCCTCCCTCCCTCCCTGCCTG	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0006	1	250	0.0040	220	c.309 others(239): Show c.3095-4701_3095-4700insCCCTCCCTCCCTCCCTCCCTGCCTCC CTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCT TCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTGCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCT CCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTGCCTGCCT	PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PLCXD1_chrX_276381_308356	280922	A A	AGGCCGTG others(213): Show AGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCA GGCAGAGGGGAAGACGTGCAGGCGGAGCGGGGGCCGTGCAGGCGGAGGGG AGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCA GGCGGAGGGGGGTACGTGCAGGGGGCAGCGGAGGCCGTGCAGGGGGAAGG GAGGCCGTGCAGGCGGAGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0108 a0007c0011t0108	a0007c0011t0108g0022 a0007c0011t0108g0022	1	176	0.0057	220	c.-78 others(229): Show c.-784_-783insGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGGGGAA GGGAGGCCGTGCAGGCAGAGGGGAAGACGTGCAGGCGGAGCGGGGGCCGT GCAGGCGGAGGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGGGGAA GGGAGGCCGTGCAGGCGGAGGGGGGTACGTGCAGGGGGCAGCGGAGGCCG TGCAGGGGGAAGGGAGGCCGTGCAGGCGGAGGGG	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		458		chrX	TogoVar
PLEKHG4B_chr5_87168_194966	92369	G G	GGCGCGGG others(213): Show GGCGCGGGGGTAGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGG GGCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGG GGCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGG GGCGCGGGGGTAGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGG GCGCGGGGGTAGGGGCGGGGT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0013 a0013	a0013c0065 a0013c0065	a0013c0065t0038 a0013c0065t0038	a0013c0065t0038g0166 a0013c0065t0038g0166	1	210	0.0048	220	c.45+ others(231): Show c.45+94_45+95insCGCGGGGGTAGGGGCGGGGTGGGGGCGCCGGGGT AGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGT AGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGT AGGGGCGGGGTGGGGGCGCGGGGGTAGGGGCGGGGTGGGGGCGCCGGGGT AGGGGCGGGTGGGGGCGCGGGGGTAGGGGCGGGGTG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLIN1_chr15_89659367_89684367	89663991	G G	GCCAGGGC others(213): Show GCCAGGGCCACAGAGTCAGCGCCAGGGCCACAGAGTCAGTTCCAGGGCCA CAGAGTCAGTTCCAGGGCCACAGAGTCAGCGCCAGGGCCACAGAGTCAGT TCCAGGGCCACAGAGTCAGCGCCAGGGCCACAGAGTCAGTTCCAGGGCCA CAGAGTCAGCGCCAGGGCCACAGAGTCAGTTCCAGGGCCACAGAGTCAGC GCCAGGGCCACAGAGTCAGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0196 a0001c0001t0007g0196	1	460	0.0022	220	c.15 others(231): Show c.1591_*1592insAACTGACTCTGTGGCCCTGGCGCTGACTCTGTGG CCCTGGAACTGACTCTGTGGCCCTGGCGCTGACTCTGTGGCCCTGGAACT GACTCTGTGGCCCTGGCGCTGACTCTGTGGCCCTGGAACTGACTCTGTGG CCCTGGCGCTGACTCTGTGGCCCTGGAACTGACTCTGTGGCCCTGGAACT GACTCTGTGGCCCTGGCGCTGACTCTGTGGCCCTGG	PLIN1	ENSG00000166819.12	transcript	ENST00000300055.10	protein_coding		375		chr15	TogoVar
PLXNB2_chr22_50269979_50312646	50274865	C C	CTCCCAGC others(213): Show CTCCCAGCCCCCTCCACCTCCCCACAGCTCCCCTCCCAGCCCCCTCCACC TCCCCCAGTATCCCTCCCAGCCCCCTCCACCTTTCCCAGCACCCTTCCCA GCCCCCTCCACCTCCCCACAGCTCCCCTCCCAGCCCCCTCCACCTCCCCA CAGCTCCCCTCCCAGCCCCCTCCACCTCCCCCAGCATCCCTCCCAGCCCC CTCCACCTTTCCCAGCACCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0009 a0009	a0009c0020 a0009c0020	a0009c0020t0011 a0009c0020t0011	a0009c0020t0011g0011 a0009c0020t0011g0011	1	302	0.0033	220	c.83 others(229): Show c.838_*839insAGGGTGCTGGGAAAGGTGGAGGGGGCTGGGAGGGAT GCTGGGGGAGGTGGAGGGGGCTGGGAGGGGAGCTGTGGGGAGGTGGAGGG GGCTGGGAGGGGAGCTGTGGGGAGGTGGAGGGGGCTGGGAAGGGTGCTGG GAAAGGTGGAGGGGGCTGGGAGGGATACTGGGGGAGGTGGAGGGGGCTGG GAGGGGAGCTGTGGGGAGGTGGAGGGGGCTGGGA	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding		113		chr22	TogoVar
PNMA5_chrX_152983824_152999116	152998672	A A	AAATATAT others(213): Show AAATATATATTATATATATTATATATAAAATATATATAATATATATTATA TATATTTATATAAAATATATATAATATATATTATATATTATATATAAAAT ATATATAAATATATATTATATATATTATATATAAAATATATATAAATAAT ATATATTATATATTATATATTATATAATATATAATATATAATATATATTA TTTATATAATATAAGATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	286	0.0035	220	c.-49 others(231): Show c.-4970_-4969insATATATCTTATATTATATAAATAATATATATTAT ATATTATATATTATATAATATATAATATATAATATATATTATTTATATAT ATTTTATATATAATATATATAATATATATTTATATATATTTTATATATAA TATATAATATATATTATATATATTTTATATAAATATATATAATATATATT ATATATATTTTATATATAATATATATAATATATATT	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4557		chrX	TogoVar
PPP6R2_chr22_50338327_50450090	50344282	C C	CCCCCTTC others(213): Show CCCCCTTCAGTCAGTTCCCCAGTCAGTGCCCCCTCCAGTCAGTTCCCCCC CAGTCAGTGCCCCCCCAGTCAGTTTCCCCCAGTCAGTGCCCCCCAGTCAG TGCCCCCTCCAGTCAGTTCCCCCAGTCAGTGCCCCCCCAGTCAGTTTCCC CCCAGTCAGTGCCCCCCAGTCAGTGCCCCCTCCAGTCAATTCCCCCCAGT CAGTGCCCCCTCCAGTCAGTT	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0001 a0001c0001t0006g0001	1	340	0.0029	220	c.-14 others(237): Show c.-148+736_-148+737insTTCAGTCAGTTCCCCAGTCAGTGCCCCC TCCAGTCAGTTCCCCCCCAGTCAGTGCCCCCCCAGTCAGTTTCCCCCAGT CAGTGCCCCCCAGTCAGTGCCCCCTCCAGTCAGTTCCCCCAGTCAGTGCC CCCCCAGTCAGTTTCCCCCCAGTCAGTGCCCCCCAGTCAGTGCCCCCTCC AGTCAATTCCCCCCAGTCAGTGCCCCCTCCAGTCAGTTCCCC	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PRTN3_chr19_835999_853175	844249	C C	CCGCCCGC others(213): Show CCGCCCGCGCCTCTCCCCCGCCCGCGCCTCTCCCCTGCGCGCCCTCTCCC CCGCCCGCGCCTCTCCCCCGCCCGCGCCTCTCCCCTGCCCGCGCCTCTCC CTTGCCCGCCCCTCTCCCCTGCCCGCGCCTCTCCCCTGCATGCCTCTCCC TTGCCCGCCCCTCTCCCCTGCCCGCGCCTCTCCCCTGCGCGCCTCTCCCC CCGCCCCGCGCCTCTCCCCCG	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0173 a0002c0002t0001g0173	1	415	0.0024	220	c.369 others(235): Show c.369+215_369+216insCGCCCGCGCCTCTCCCCCGCCCGCGCCTCT CCCCTGCGCGCCCTCTCCCCCGCCCGCGCCTCTCCCCCGCCCGCGCCTCT CCCCTGCCCGCGCCTCTCCCTTGCCCGCCCCTCTCCCCTGCCCGCGCCTC TCCCCTGCATGCCTCTCCCTTGCCCGCCCCTCTCCCCTGCCCGCGCCTCT CCCCTGCGCGCCTCTCCCCCCGCCCCGCGCCTCTCCCCCG	PRTN3	ENSG00000196415.10	transcript	ENST00000234347.10	protein_coding	3/4			chr19	TogoVar
PTPRH_chr19_55176247_55214501	55208137	G G	GCCTGGGT others(213): Show GCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCTCGACCTCTGGTTTGAGG GAGGAGAGGTTGGGGGCCTGGACTCCTGAGTCTGAGGGAGGAGGGGCTGG GGTCTGGACTCCTGGGTCTGAGGGAGTAGGGGCTGGGGGCCTGGATTCCT GGGTCTGAGGGAGGAGGGGCTGGGGGTCTGGATTCCTGGGTCTGAGGGAG GAGGGGCTGGGGGTCTGGACT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0005 a0005	a0005c0093 a0005c0093	a0005c0093t0001 a0005c0093t0001	a0005c0093t0001g0306 a0005c0093t0001g0306	1	378	0.0027	220	c.52- others(233): Show c.52-939_52-938insAGTCCAGACCCCCAGCCCCTCCTCCCTCAGAC CCAGGAATCCAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGAATCCAGG CCCCCAGCCCCTACTCCCTCAGACCCAGGAGTCCAGACCCCAGCCCCTCC TCCCTCAGACTCAGGAGTCCAGGCCCCCAACCTCTCCTCCCTCAAACCAG AGGTCGAGACCCCCAGCCCCTCCTCCCTCAGACCCAGG	PTPRH	ENSG00000080031.10	transcript	ENST00000376350.8	protein_coding	1/19			chr19	TogoVar
PTPRH_chr19_55176247_55214501	55208899	C C	CCTGGACT others(213): Show CCTGGACTCCCGGGTCTGAGGGAGGAGGGGCTGGGGTCTGGACTCCTGGG TCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGAGTCTGAGGGAGGAG GGGCTGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCTG GACTCCTGGGCCTGAAGGAGGAGGGACTGGGGGTCTGGACCCCTGAGTCT GAGGGAAGAGGGGCTGGGGGT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0051 a0002c0002t0002g0051	1	378	0.0027	220	c.51+ others(233): Show c.51+483_51+484insACCCCCAGCCCCTCTTCCCTCAGACTCAGGGG TCCAGACCCCCAGTCCCTCCTCCTTCAGGCCCAGGAGTCCAGACCCCCAG CCCCTCCTCCCTCAGACCCAGGAGTCCAGACCCCAGCCCCTCCTCCCTCA GACTCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCC AGACCCCAGCCCCTCCTCCCTCAGACCCGGGAGTCCAG	PTPRH	ENSG00000080031.10	transcript	ENST00000376350.8	protein_coding	1/19			chr19	TogoVar
PXDN_chr2_1626887_1749515	1720212	A A	AGAGAGAG others(213): Show AGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGGGAGGGAGGGATGTAG AGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGGGAGGGAGGGATGT AGAGAGAGAGAGAGGGAGGGAGGGATGCAGGAGAGAGAGAGAGGGAGGGA GGGATGCAGAGAGAGAGAGAGGAGGGAGGATGCAGAGAGAGAGAGAGGGA GGGAGGGATGCAGAGGAGAGG	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0103 a0001c0002t0003g0103	1	322	0.0031	220	c.200 others(239): Show c.200+24043_200+24044insCCTCTCCTCTGCATCCCTCCCTCCCT CTCTCTCTCTCTGCATCCTCCCTCCTCTCTCTCTCTCTGCATCCCTCCCT CCCTCTCTCTCTCTCCTGCATCCCTCCCTCCCTCTCTCTCTCTCTACATC CCTCCCTCCCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTACA TCCCTCCCTCCCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTC	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
RAB11FIP3_chr16_420649_528011	467922	G G	GTCAGGGA others(213): Show GTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGG GAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAG GTGCTGGGACGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTG GGGCCTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCCT CAGGGAGGAGGTGCTGGGGCC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00673.hp2 HG01928.hp2 others(14): Show HG00609.hp2 HG00673.hp2 HG01928.hp2 HG01975.hp2 HG02135.hp2 HG02622.hp1 HG02886.hp1 HG02976.hp1 HG03041.hp2 NA18946.hp1 NA18951.hp2 NA18967.hp2 NA18971.hp1 NA19000.hp2 NA19011.hp2 NA19082.hp2 NA19240.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0001c0013 others(1): Show a0001c0001 a0001c0004 a0001c0013 a0004c0007	a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 others(7): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0017 a0001c0001t0040 a0001c0004t0003 a0001c0013t0052 a0004c0007t0022	a0001c0001t0003g0060 a0001c0001t0004g0051 a0001c0001t0004g0055 others(14): Show a0001c0001t0003g0060 a0001c0001t0004g0051 a0001c0001t0004g0055 a0001c0001t0004g0056 a0001c0001t0004g0088 a0001c0001t0004g0089 a0001c0001t0004g0201 a0001c0001t0007g0082 a0001c0001t0008g0063 a0001c0001t0008g0068 a0001c0001t0011g0084 a0001c0001t0017g0049 a0001c0001t0017g0057 a0001c0001t0040g0083 a0001c0004t0003g0052 a0001c0013t0052g0069 a0004c0007t0022g0186	17	295	0.0576	220	c.809 others(237): Show c.809-3352_809-3351insCTCAGGGAGGAGGTGCAGGGGCGTCAGG GAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAG GTGCTGGGACGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTG GGGCCTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCCT CAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCAGGGGC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	467922	G G	GTCAGGGA others(213): Show GTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGG GAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAG GTGCTGGGACGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTG GGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCCT CAGGGAGGAGGTGCTGGGGCC	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0090 a0001c0001t0004g0090	1	295	0.0034	220	c.809 others(237): Show c.809-3352_809-3351insCTCAGGGAGGAGGTGCAGGGGCGTCAGG GAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAG GTGCTGGGACGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTG GGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCCT CAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCAGGGGC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	468138	C C	CTCAGGGA others(213): Show CTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGAAGTCAGG GAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAG GTGCAGGGAAGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTG GGGCGTCAGGGAGGAGGTGCAGGGAAGTCAGGGAGGAGGTGCAGGGGCGT CAGGGAGGAGGTGCAGGGGCG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02970.hp2 HG02717.hp1 HG02970.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0017 a0001c0001 a0009c0017	a0001c0001t0008 a0009c0017t0037 a0001c0001t0008 a0009c0017t0037	a0001c0001t0008g0294 a0009c0017t0037g0100 a0001c0001t0008g0294 a0009c0017t0037g0100	2	295	0.0068	220	c.809 others(237): Show c.809-3136_809-3135insGTCAGGGAGGAGGTGCAGGGAAGTCAGG GAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAG GTGCAGGGAAGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTG GGGCGTCAGGGAGGAGGTGCAGGGAAGTCAGGGAGGAGGTGCAGGGGCGT CAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	468138	C C	CTCAGGGA others(213): Show CTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGAAGTCAGG GAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAG GTGCAGGGAAGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTG GGGCGTCAGGGAGGAGGTGCAGGGAAGTCAGGGAGGAGGTGCAGGGGTGT CAGGGAGGAGGTGCAGGGGCG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02559.hp2 HG02615.hp1 others(3): Show HG02257.hp1 HG02559.hp2 HG02615.hp1 HG02896.hp1 HG02897.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0036 a0001c0001t0013 a0001c0001t0036	a0001c0001t0013g0027 a0001c0001t0013g0028 a0001c0001t0013g0029 others(3): Show a0001c0001t0013g0027 a0001c0001t0013g0028 a0001c0001t0013g0029 a0001c0001t0013g0033 a0001c0001t0013g0035 a0001c0001t0036g0034	6	295	0.0203	220	c.809 others(237): Show c.809-3136_809-3135insGTCAGGGAGGAGGTGCAGGGAAGTCAGG GAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAG GTGCAGGGAAGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTG GGGCGTCAGGGAGGAGGTGCAGGGAAGTCAGGGAGGAGGTGCAGGGGTGT CAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	504459	A A	ACCTCCTG others(213): Show ACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTCCTGT ACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCAC CTCCTTGTGCACCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCC CCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGCACCCTCCTCACCT CCTCCTGTACCCCCCTCACCT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0043 a0001c0001t0018g0043	1	295	0.0034	220	c.139 others(239): Show c.1396-1023_1396-1022insCTCCTGTACCCCCTCACCTCCTCCTG TACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCTCAC CTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTCCTGTAC CCCCTCACCTCCTCCTGCACCCTCCTCACCTCCTCCTGTACCCCCCTCAC CTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX3_chr17_79084345_79616051	79283975	A A	ACATTTGC others(213): Show ACATTTGCCTGTTTCAGTACTTATAAATGGAGATGCCTTCTCCAGGACCA TCGTAACATTTGCCTGTTTCAGTACTTATAAATGGAGATGCCTTCTCCAG GACCATCGTAACATTTGCCTGTTTCAGTACTTATAAATGGAGATGCCTTC TCCAGGACCATCGTAACATTTGCCTGTTTCAGTACTTATAAATGGAGATG CCTTCTCCAGGACCATCGTAT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0097 a0001c0001t0004g0097	1	154	0.0065	220	c.-74 others(239): Show c.-74+23748_-74+23749insATACGATGGTCCTGGAGAAGGCATCT CCATTTATAAGTACTGAAACAGGCAAATGTTACGATGGTCCTGGAGAAGG CATCTCCATTTATAAGTACTGAAACAGGCAAATGTTACGATGGTCCTGGA GAAGGCATCTCCATTTATAAGTACTGAAACAGGCAAATGTTACGATGGTC CTGGAGAAGGCATCTCCATTTATAAGTACTGAAACAGGCAAATG	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	3/14			chr17	TogoVar
RBM33_chr7_155639661_155786480	155673695	T T	TATACATA others(213): Show TATACATACACACGTGTATATATATACACGCATATACATACACACGTGTA TATATATACACGCATATACATACACACGTGTATATATATACACGCATATA CATACACACGTGTATATATATACACGCATATACATACACACGTGTATATA TATACACGCATATACATACACACGTGTATATATATACACGCATATACATA CACACGTGTATATATACACGC	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0258 a0001c0003t0008g0258	1	306	0.0033	220	c.171 others(235): Show c.171+783_171+784insCATACACACGTGTATATATATACACGCATA TACATACACACGTGTATATATATACACGCATATACATACACACGTGTATA TATATACACGCATATACATACACACGTGTATATATATACACGCATATACA TACACACGTGTATATATATACACGCATATACATACACACGTGTATATATA TACACGCATATACATACACACGTGTATATATACACGCATA	RBM33	ENSG00000184863.11	transcript	ENST00000401878.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
REPS2_chrX_16941658_17158272	17050141	C C	CCTTCCTT others(213): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	166	0.0060	220	c.908 others(237): Show c.908-2238_908-2237insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
RER1_chr1_2386841_2410436	2401365	C C	CCCTCCTC others(213): Show CCCTCCTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTTCCCTCCCTCCTC CTCCCTCCTTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCCTTCTTCC TCCCTCCTCCTCCCTTCTTCCTCCTCCTCCCTCCTCCCCCTCCTCCCTCC CCCTCCTCCCTCCCTCCTCCCCCCTCCTCCCTCCTTCCTCCCTCCTCCTC CCTCCCTCCTCCTTCCTCCCT	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	354	0.0028	220	c.365 others(235): Show c.365+436_365+437insCCTCCCTCCTCCTCCCTCCTCCTCCCTCCT TCCCTCCCTCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCTCCTCCCT CCTCCCTTCTTCCTCCCTCCTCCTCCCTTCTTCCTCCTCCTCCCTCCTCC CCCTCCTCCCTCCCCCTCCTCCCTCCCTCCTCCCCCCTCCTCCCTCCTTC CTCCCTCCTCCTCCCTCCCTCCTCCTTCCTCCCTCCTCCT	RER1	ENSG00000157916.20	transcript	ENST00000605895.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RETNLB_chr3_108750638_108762410	108759494	T T	TGTATGTA others(213): Show TGTATGTATGTATGTGTATGCATACATATGTATGTGTATACATACGTATG TATGTATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTA TGTATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTATG TATGTGTATACATACGTATGTGTATACATACATACGTATGTGTATACATA CATACGTATGTGTATACATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	452	0.0022	220	c.-23 others(231): Show c.-2310_-2309insGTATGTATACACATACGTATGTATGTATACACAT ACGTATGTATGTATACACATACGTATGTATACACATACATACATACGTAT GTATACACATACATACATACGTATGTATACACATACATACATACGTATGT ATACACATACATACATACGTATGTATACACATACATACATACGTATGTAT ACACATACATATGTATGCATACACATACATACATAC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2085		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759494	T T	TGTATGTA others(213): Show TGTATGTATGTATGTGTATGCATACATATGTATGTGTATACATACGTATG TATGTATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTA TGTATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTATG TGTATACATACGTATGTGTATACATACATACGTATGTATGTGTATACATA CATACGTATGTATGTGTATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	452	0.0022	220	c.-23 others(231): Show c.-2310_-2309insGTATACACATACATACGTATGTATGTATACACAT ACATACGTATGTATGTATACACATACGTATGTATACACATACATACGTAT GTATACACATACATACATACGTATGTATACACATACATACATACGTATGT ATACACATACATACATACGTATGTATACACATACATACATACGTATGTAT ACACATACATATGTATGCATACACATACATACATAC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2085		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759494	T T	TGTATGTA others(213): Show TGTATGTATGTATGTGTATGCATACATATGTATGTGTATACATACGTATG TATGTATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTA TGTATGTGTATACATACGTATGTATGTGTATACATACGTATGTATGTGTA TACATACATACGTATGTATGTGTATACATACATACGTATGTATGTGTATA CATACGTATGTATGTGTATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	452	0.0022	220	c.-23 others(231): Show c.-2310_-2309insGTATACACATACATACGTATGTATACACATACAT ACGTATGTATGTATACACATACATACGTATGTATGTATACACATACATAC GTATGTATACACATACATACGTATGTATACACATACATACATACGTATGT ATACACATACATACATACGTATGTATACACATACATACATACGTATGTAT ACACATACATATGTATGCATACACATACATACATAC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2085		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759523	G G	GTATGTGT others(213): Show GTATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTATGT ATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTATGTAT GTGTATACATACGTACGTATGTGTATACATACATACGTATGTGTATACAT ACATACGTATGTATGTGTATACATACATACGTATGTATGTGTATACATAC GTATGTATGTGTATACATACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	452	0.0022	220	c.-23 others(231): Show c.-2339_-2338insTGTATGTATACACATACATACGTATGTATACACA TACATACGTATGTATGTATACACATACATACGTATGTATGTATACACATA CGTATGTATGTATACACATACGTACGTATGTATACACATACATACATACG TATGTATACACATACATACATACGTATGTATACACATACATACATACGTA TGTATACACATACATACATACGTATGTATACACATA	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2114		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759523	G G	GTATGTGT others(213): Show GTATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTATGT ATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTATGTAT GTGTATACATACGTATGTATGTGTATACATACATACGTATGTGTATACAT ACATACGTATGTATGTGTATACATACATACGTATGTATGTGTATACATAC GTATGTATGTGTATACATACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG02132.hp2 NA19005.hp1 others(2): Show HG00408.hp1 HG02132.hp2 NA19005.hp1 NA19062.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	5	452	0.0111	220	c.-23 others(231): Show c.-2339_-2338insTGTATGTATACACATACATACGTATGTATACACA TACATACGTATGTATGTATACACATACATACGTATGTATGTATACACATA CGTATGTATGTATACACATACATACGTATGTATACACATACATACATACG TATGTATACACATACATACATACGTATGTATACACATACATACATACGTA TGTATACACATACATACATACGTATGTATACACATA	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2114		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759615	A A	ATACGTAT others(213): Show ATACGTATGTGTATACATACATACGTATGTGTATACATACATACGTATGT ATGTGTATACATACATACGTATGTATGTGTATACATACATATGTATGTGT ATACATACATATGTATGTATGTGTATACATACATATGTATGTATGTGTAT ACATACATATGTATGTATGTGTATACATACGTATGTATGTGTATACATAC GTATGTATGTGTATACATACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	452	0.0022	220	c.-24 others(231): Show c.-2431_-2430insCGTATGTATACACATACATACGTATGTATACACA TACATACGTATGTATACACATACATACATATGTATGTATACACATACATA CATATGTATGTATACACATACATACATATGTATGTATACACATACATATG TATGTATACACATACATACGTATGTATGTATACACATACATACGTATGTA TGTATACACATACGTATGTATGTATACACATACGTA	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2206		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759634	C C	CATACGTA others(213): Show CATACGTATGTATGTATGTGTATACATACGTATGTGTATACATACATACG TATGTGTATACATACATACGTATGTATGTGTATACATACATACATATGTA TGTGTATACATACATACGTATGTATGTGTATACATACATACGTATGTATG TGTATACATACATACGTATGTATGTGTATACATACGTATGTATGTGTATA CATACGTATGTATGTATGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	452	0.0022	220	c.-24 others(231): Show c.-2450_-2449insACACATACATACATACGTATGTATACACATACAT ACGTATGTATACACATACATACGTATGTATGTATACACATACATACGTAT GTATGTATACACATACATACGTATGTATGTATACACATACATATGTATGT ATGTATACACATACATACGTATGTATGTATACACATACGTATGTATGTAT ACACATACGTATGTATACACATACATACATACGTAT	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2225		chr3	TogoVar
RGSL1_chr1_182445146_182565597	182465082	A A	AATAATAA others(213): Show AATAATAATAATATTATATTATTTTTATATATTTTATATATATATATATA TTTAATTTTATATATATATTATTTTTATATATATATATATTATTATATAT ATAATATAATAATATTATATTATAATAATAATATTTATATATTTTATATA TATATAATTTTATATATATATTATTTTTATATATATATATTATTATATAT ATAATATAATAATATTATATT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG03209.hp2 HG01069.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0216 a0001c0001t0001g0200 a0001c0001t0001g0216	2	338	0.0059	220	c.301 others(237): Show c.301+4961_301+4962insTTATATTATTTTTATATATTTTATATAT ATATATATATTTAATTTTATATATATATTATTTTTATATATATATATATT ATTATATATATAATATAATAATATTATATTATAATAATAATATTTATATA TTTTATATATATATAATTTTATATATATATTATTTTTATATATATATATT ATTATATATATAATATAATAATATTATATTATAATAATAATA	RGSL1	ENSG00000121446.20	transcript	ENST00000294854.13	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
RIC8A_chr11_202708_220113	202763	G G	GCAGGGTT others(213): Show GCAGGGTTTACAGCACCTGTGCTCATGGCCAGCCACGGAGTGAATGAGGG AAGGGACAGGGTTTACAGCACCAGTGCTCATGGCCAGCCACGGGGTGAAT GAGGGAAGGGACAGGGTTTACAGCACCGGTGCTCATGGCCAGCCACGGAG TGAATGAGGGAAGGGACAGGGTTTACAGCACCTGTGCCCATGGCCAGCCA CGGGGTGAATGAGGGAAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0003 a0002c0001t0001g0003	1	432	0.0023	220	c.-60 others(231): Show c.-6092_-6091insCAGGGTTTACAGCACCTGTGCTCATGGCCAGCCA CGGAGTGAATGAGGGAAGGGACAGGGTTTACAGCACCAGTGCTCATGGCC AGCCACGGGGTGAATGAGGGAAGGGACAGGGTTTACAGCACCGGTGCTCA TGGCCAGCCACGGAGTGAATGAGGGAAGGGACAGGGTTTACAGCACCTGT GCCCATGGCCAGCCACGGGGTGAATGAGGGAAGGGA	RIC8A	ENSG00000177963.15	transcript	ENST00000526104.6	protein_coding		4944		chr11	TogoVar

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