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
SLC45A1_chr1_8313114_8349165	8322304	A A	ATGGCGGG others(473): Show ATGGCGGGTGGGTGGATGGATGAGTGGGTGAGTGGATGGATGCATGGATG GATGGGTGGGTGGGTGATGGATGAGTGGGTGGATGGATGGGTGGATGGAT GGGTGGGTGGGTGGATGGATGGGTGGTGGGTGGCGTGGGTGGGTGGATGG ATGGATGGATGAGTGGGTGAGTGGATGGATGCAAGGATGGATGGGTGGGT GGGTGAATGGATGGATGAAGTGGGTGGATGGATGGGTGGATGAATGGGTG GGTGGGTGCGTGGGTGGGTGGATGGATGGATGGGTGGATGGATGCATGGG TGGGTGGATGTATGGGTGGATGGATGCGTGGGGTGGGTGGATGGATGGGT GGATGGGTGGATGGATGGATGGATAGATGGGTGTGTGGATGGATGGATGA GTGGGTGGATGGATGGGTGGATGGATGGGTAGGTGGGTGGATGGATGGGT GGATGAGTGGATGGATGGATGGATAGATGGG	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	193	0.0052	480	c.-24 others(497): Show c.-24-1999_-24-1998insCGGGTGGGTGGATGGATGAGTGGGTGAG TGGATGGATGCATGGATGGATGGGTGGGTGGGTGATGGATGAGTGGGTGG ATGGATGGGTGGATGGATGGGTGGGTGGGTGGATGGATGGGTGGTGGGTG GCGTGGGTGGGTGGATGGATGGATGGATGAGTGGGTGAGTGGATGGATGC AAGGATGGATGGGTGGGTGGGTGAATGGATGGATGAAGTGGGTGGATGGA TGGGTGGATGAATGGGTGGGTGGGTGCGTGGGTGGGTGGATGGATGGATG GGTGGATGGATGCATGGGTGGGTGGATGTATGGGTGGATGGATGCGTGGG GTGGGTGGATGGATGGGTGGATGGGTGGATGGATGGATGGATAGATGGGT GTGTGGATGGATGGATGAGTGGGTGGATGGATGGGTGGATGGATGGGTAG GTGGGTGGATGGATGGGTGGATGAGTGGATGGATGGATGGATAGATGGGT GG	SLC45A1	ENSG00000162426.16	transcript	ENST00000471889.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC45A1_chr1_8313114_8349165	8322304	A A	ATGGGCGG others(473): Show ATGGGCGGGTGGGTGGATGGATGAGTGGGTGAGTGGATGGATGCATGGAT GGATGGGTGGGTGGGTGGATGGATGAGTGGGTGGATGGATGGGTGGATGG ATGGGTGGGTGGGTGGATGGATGGGTGGGTGGGTGCGTGGGTGGGTGGAT GGATGGATGGATGAGTGGGTGAGTGGATGGATGCATGGATGGATGGGTGG GTGGGTGAATGGATGGATGAGTGGGTGGATGGATGGGTGGATGAATGGGT GGGTGGGTGCATGGGTGGGTGGATGGATGGATGGGTGGATGGATGCATGG GTGGGTGGATGTATGGGTGGATGGATGCGTGGGTGGGTGGATGGATGGGT GGATGGGTGGATGGATGGATGGATAGATGGGTGTGTGGATGGATGGATGA GTGGGTGGATGGATGGGTGGATGGATGGGTAGGTGGGTGGATGGATGGGT GGATGAGTGGATGGATGGATGGATAGATGGG	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0055	1	193	0.0052	480	c.-24 others(497): Show c.-24-1999_-24-1998insGCGGGTGGGTGGATGGATGAGTGGGTGA GTGGATGGATGCATGGATGGATGGGTGGGTGGGTGGATGGATGAGTGGGT GGATGGATGGGTGGATGGATGGGTGGGTGGGTGGATGGATGGGTGGGTGG GTGCGTGGGTGGGTGGATGGATGGATGGATGAGTGGGTGAGTGGATGGAT GCATGGATGGATGGGTGGGTGGGTGAATGGATGGATGAGTGGGTGGATGG ATGGGTGGATGAATGGGTGGGTGGGTGCATGGGTGGGTGGATGGATGGAT GGGTGGATGGATGCATGGGTGGGTGGATGTATGGGTGGATGGATGCGTGG GTGGGTGGATGGATGGGTGGATGGGTGGATGGATGGATGGATAGATGGGT GTGTGGATGGATGGATGAGTGGGTGGATGGATGGGTGGATGGATGGGTAG GTGGGTGGATGGATGGGTGGATGAGTGGATGGATGGATGGATAGATGGGT GG	SLC45A1	ENSG00000162426.16	transcript	ENST00000471889.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC45A1_chr1_8313114_8349165	8322304	A A	ATGGGCGG others(473): Show ATGGGCGGGTGGGTGGATGGATGAGTGGGTGAGTGGATGGATGCATGGAT GGATGGGTGGGTGGGTGGATGGATGAGTGGGTGGATGGATGGGTGGATGG ATGGGTGGGTGGGTGGATGGATGGGTGGGTGGGTGCGTGGGTGGGTGGAT GGATGGATGGATGAGTGGGTGAGTGGATGGATGCATGGATGGATGGGTGG GTGGGTGAATGGATGGATGAGTGGGTGGATGGATGGGTGGATGAATGGGT GGGTGGGTGCGTGGGTGGGTGGATGGATGGATGGGTGGATGGATGCATGG GTGGGTGGATGTATGGGTGGATGGATGCGTGGGTGGGTGGATGGATGGGT GGATGGGTGGATGGATGGATGGATAGATGGGTGTGTGGATGGATGGATGA GTGGGTGGATGGATGGGTGGATGGATGGGTAGGTGGGTGGATGGATGGGT GGATGAGTGGATGGATGGATGGATAGATGGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(183): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00733.hp2 HG00738.hp2 HG01070.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02886.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp2 HG04204.hp1 HG04204.hp2 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18948.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18957.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18966.hp2 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp2 NA18979.hp2 NA18983.hp1 NA18985.hp1 NA18988.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19065.hp1 NA19065.hp2 NA19070.hp2 NA19074.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19240.hp1 NA20300.hp1 NA20905.hp1 NA21309.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0008 a0009	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0001c0018 a0001c0021 a0001c0022 a0001c0024 a0002c0006 a0002c0009 a0004c0023 a0008c0019 a0009c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0005t0002 a0001c0005t0003 a0001c0008t0001 a0001c0018t0002 a0001c0021t0001 a0001c0022t0002 a0001c0024t0001 a0002c0006t0001 a0002c0009t0001 a0004c0023t0001 a0008c0019t0001 a0009c0020t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(122): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0148 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0184 a0001c0001t0001g0295 a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0020 a0001c0001t0002g0028 a0001c0001t0002g0038 a0001c0001t0002g0042 a0001c0001t0002g0059 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0075 a0001c0001t0002g0078 a0001c0001t0002g0086 a0001c0001t0002g0089 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0100 a0001c0001t0002g0115 a0001c0001t0002g0137 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0296 a0001c0001t0003g0080 a0001c0001t0006g0149 a0001c0002t0001g0058 a0001c0002t0001g0061 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0003t0001g0019 a0001c0003t0001g0085 a0001c0003t0002g0023 a0001c0005t0002g0124 a0001c0005t0003g0091 a0001c0008t0001g0002 a0001c0008t0001g0013 a0001c0018t0002g0109 a0001c0021t0001g0056 a0001c0022t0002g0094 a0001c0024t0001g0105 a0002c0006t0001g0044 a0002c0009t0001g0077 a0004c0023t0001g0112 a0008c0019t0001g0076 a0009c0020t0001g0183	186	378	0.4921	480	c.-24 others(497): Show c.-24-1999_-24-1998insGCGGGTGGGTGGATGGATGAGTGGGTGA GTGGATGGATGCATGGATGGATGGGTGGGTGGGTGGATGGATGAGTGGGT GGATGGATGGGTGGATGGATGGGTGGGTGGGTGGATGGATGGGTGGGTGG GTGCGTGGGTGGGTGGATGGATGGATGGATGAGTGGGTGAGTGGATGGAT GCATGGATGGATGGGTGGGTGGGTGAATGGATGGATGAGTGGGTGGATGG ATGGGTGGATGAATGGGTGGGTGGGTGCGTGGGTGGGTGGATGGATGGAT GGGTGGATGGATGCATGGGTGGGTGGATGTATGGGTGGATGGATGCGTGG GTGGGTGGATGGATGGGTGGATGGGTGGATGGATGGATGGATAGATGGGT GTGTGGATGGATGGATGAGTGGGTGGATGGATGGGTGGATGGATGGGTAG GTGGGTGGATGGATGGGTGGATGAGTGGATGGATGGATGGATAGATGGGT GG	SLC45A1	ENSG00000162426.16	transcript	ENST00000471889.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC45A1_chr1_8313114_8349165	8322304	A A	ATGGGCGG others(473): Show ATGGGCGGGTGGGTGGATGGATGAGTGGGTGAGTGGATGGATGCATGGAT GGATGGGTGGGTGGGTGGATGGATGAGTGGGTGGATGGATGGGTGGATGG ATGGGTGGGTGGGTGGATGGATGGGTGGGTGGGTGCGTGGGTGGGTGGAT GGATGGATGGATGAGTGGGTGAGTGGATGGATGCATGGATGGATGGGTGG GTGGGTGAATGGGTGGATGAGTGGGTGGATGGATGGGTGGATGAATGGGT GGGTGGGTGCGTGGGTGGGTGGATGGATGGATGGGTGGATGGATGCATGG GTGGGTGGATGTATGGGTGGATGGATGCGTGGGTGGGTGGATGGATGGGT GGATGGGTGGATGGATGGATGGATAGATGGGTGTGTGGATGGATGGATGA GTGGGTGGATGGATGGGTGGATGGATGGGTAGGTGGGTGGATGGATGGGT GGATGAGTGGATGGATGGATGGATAGATGGG	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	193	0.0052	480	c.-24 others(497): Show c.-24-1999_-24-1998insGCGGGTGGGTGGATGGATGAGTGGGTGA GTGGATGGATGCATGGATGGATGGGTGGGTGGGTGGATGGATGAGTGGGT GGATGGATGGGTGGATGGATGGGTGGGTGGGTGGATGGATGGGTGGGTGG GTGCGTGGGTGGGTGGATGGATGGATGGATGAGTGGGTGAGTGGATGGAT GCATGGATGGATGGGTGGGTGGGTGAATGGGTGGATGAGTGGGTGGATGG ATGGGTGGATGAATGGGTGGGTGGGTGCGTGGGTGGGTGGATGGATGGAT GGGTGGATGGATGCATGGGTGGGTGGATGTATGGGTGGATGGATGCGTGG GTGGGTGGATGGATGGGTGGATGGGTGGATGGATGGATGGATAGATGGGT GTGTGGATGGATGGATGAGTGGGTGGATGGATGGGTGGATGGATGGGTAG GTGGGTGGATGGATGGGTGGATGAGTGGATGGATGGATGGATAGATGGGT GG	SLC45A1	ENSG00000162426.16	transcript	ENST00000471889.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SMOC2_chr6_168436184_168672992	168498733	G G	GGCCAGGG others(473): Show GGCCAGGGCCCATAGCCTGTCTACTGCACATGGAAACCCTGGGTCCTCCC AGCCCTACGAGTCAGAGTCTCTGGGGGGATGGCCAGGGCCCATAGCCTGT CTACTACACATGGAAACCCTGGGTCCTCCCAGCCCTACGAGTCAGAGTCT CTGGGGGGATGGCCAGGGCCCATAGCCTGTCTACTGCACATGGAAACCCT GGGTCCTCCCAGCCCTACGAGTCAGAGTCTCTGGGGGGATGGCCAGGGCC CATAGCCTGTCTACTACACATGGAAACCCTGGGTCCTCCCAGCCCTACGA GCCACAGTCTCTGGGGGGACAGCCAGGGCCCATAGCCTGTCTACTACACA TGGAAACCCTGGGTCCTCCCAGCCCTACGAGCCACAGTCTCTGGGGGGAC AGCCAGGGCCCATAGCCTGTTTACTAAACATGGAAACCCTGGGTCCTCCC AGCCCTACGAGCCACAGTCTCTGGGGGGACA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA21309.hp2 NA19030.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0052 a0001c0002t0002g0180 a0001c0002t0002g0052 a0001c0002t0002g0180	2	116	0.0172	480	c.85- others(497): Show c.85-11042_85-11041insTCAGAGTCTCTGGGGGGATGGCCAGGGC CCATAGCCTGTCTACTGCACATGGAAACCCTGGGTCCTCCCAGCCCTACG AGTCAGAGTCTCTGGGGGGATGGCCAGGGCCCATAGCCTGTCTACTACAC ATGGAAACCCTGGGTCCTCCCAGCCCTACGAGCCACAGTCTCTGGGGGGA CAGCCAGGGCCCATAGCCTGTCTACTACACATGGAAACCCTGGGTCCTCC CAGCCCTACGAGCCACAGTCTCTGGGGGGACAGCCAGGGCCCATAGCCTG TTTACTAAACATGGAAACCCTGGGTCCTCCCAGCCCTACGAGCCACAGTC TCTGGGGGGACAGCCAGGGCCCATAGCCTGTCTACTGCACATGGAAACCC TGGGTCCTCCCAGCCCTACGAGTCAGAGTCTCTGGGGGGATGGCCAGGGC CCATAGCCTGTCTACTACACATGGAAACCCTGGGTCCTCCCAGCCCTACG AG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168659706	G G	GTTGTTAG others(473): Show GTTGTTAGCTAGGTAAGGGTGGAGGTTGTAGGTTGGGTGAGGCTGGAGAT TATTGGCTGGAGGAGGGTGGAGGTTGTAGGTTGGGTGAGGATGGAGGTTG TAGGTTGGGTTAGGGTGGAGGTTGTTGTCTGGGTGAGGGTGGAGGTTGTA GGTTGTGTGAGGATGGAGATTGTTGGCTGGATGAGGGTGGAGGTTGTAGG TTGGGTGAGGGTGGAGGTTGTAGGTTGGGTGAGGATGGAAGTTGTAGGTT GGGTGAGGTTGTAGATTATAGGTTGAGTGAGGGTGGAGGTTGTTGTCTGG GTGAGGATGGAAGTTGTTGGCTGGGTGAAGGTGGAGGTTGTAGGTTGAGT AAGGGTGGAGGTTGTAGGTTGGGTGAGGGTGGAGGTTGTAGGCTGAGTGA GGGTGGAGGTTGTAGGTTGGGTGAGGGTGGAGGTTGTTGGCTAGGTAAGG GTGGAGGTTGTAGGTTGTGTGAGGCTGGAGA	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA18522.hp1 HG03579.hp1 NA18522.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0012 a0001c0002 a0004c0012	a0001c0002t0014 a0004c0012t0010 a0001c0002t0014 a0004c0012t0010	a0001c0002t0014g0005 a0004c0012t0010g0076 a0001c0002t0014g0005 a0004c0012t0010g0076	2	178	0.0112	480	c.128 others(499): Show c.1286-4364_1286-4363insTAGCTAGGTAAGGGTGGAGGTTGTAG GTTGGGTGAGGCTGGAGATTATTGGCTGGAGGAGGGTGGAGGTTGTAGGT TGGGTGAGGATGGAGGTTGTAGGTTGGGTTAGGGTGGAGGTTGTTGTCTG GGTGAGGGTGGAGGTTGTAGGTTGTGTGAGGATGGAGATTGTTGGCTGGA TGAGGGTGGAGGTTGTAGGTTGGGTGAGGGTGGAGGTTGTAGGTTGGGTG AGGATGGAAGTTGTAGGTTGGGTGAGGTTGTAGATTATAGGTTGAGTGAG GGTGGAGGTTGTTGTCTGGGTGAGGATGGAAGTTGTTGGCTGGGTGAAGG TGGAGGTTGTAGGTTGAGTAAGGGTGGAGGTTGTAGGTTGGGTGAGGGTG GAGGTTGTAGGCTGAGTGAGGGTGGAGGTTGTAGGTTGGGTGAGGGTGGA GGTTGTTGGCTAGGTAAGGGTGGAGGTTGTAGGTTGTGTGAGGCTGGAGA TTGT	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157827118	T T	TATATTAT others(473): Show TATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATA TATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTT ATATAATATATAAACATATATTATAGTTTATATAATATATAAACATATAT TATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAA ACATATATTATAGTTTATATAATATATAAACATATAGTTTATATAATATA TAAACATATAGTTTATATAATATATAAACATATATTATAGTTTATATAAT ATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTT TATATAATATATACACATATATTATAGTTTATATAATATATACACATATA TTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATA CACATATATTATAGTTTATATAATATATAAA	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	104	0.0096	480	c.12+ others(495): Show c.12+3676_12+3677insTATAGTTTATATAATATATAAACATATATT ATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAA CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGT TTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATAT AGTTTATATAATATATAAACATATAGTTTATATAATATATAAACATATAT TATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAA ACATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATA ATATATACACATATATTATAGTTTATATAATATATACACATATATTATAG TTTATATAATATATACACATATATTATAGTTTATATAATATATAAAATAT	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SPIRE2_chr16_89823475_89876319	89852705	T T	TCCATCTT others(473): Show TCCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTC TCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG GATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGG CCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCAGATCCCATGGCCCGTCTTCCGTCCTCCCTC TCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG GATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGG CCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCTCAAGATCCCATGGC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	82	0.0122	480	c.646 others(497): Show c.646-1579_646-1578insATCTTCCATCCTCCCTCTCACCCCCCGG ATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGC CCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCG TCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCT CACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGG ATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCAGATCCCATGGC CCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCG TCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCT CACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGG ATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCTCAAGATCCCATGGC CC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852705	T T	TCCATCTT others(473): Show TCCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTC TCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG GATCCCATGGCCCGTCTTCCGTCTTCTCTCTCACCCCCCGGATCCCATGA TCCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTC TCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG GATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGG CCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGGATCCCATGGC	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0118 a0001c0003t0001g0118	1	82	0.0122	480	c.646 others(497): Show c.646-1579_646-1578insATCTTCCATCCTCCCTCTCACCCCCCGG ATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGC CCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCG TCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCTTCTCTCT CACCCCCCGGATCCCATGATCCATCTTCCATCCTCCCTCTCACCCCCCGG ATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGC CCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCG TCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCT CACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGC ATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGC CC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852735	G G	GATCCCAT others(473): Show GATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGG CCCGTCTTCCGTCCTCCCTCTCACCCCCTGGATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTC TCACCCCCCGGATCCCATGGCCCGTCTTCCGCCCTCCCTCTCACCCCCCG GATCCCATGATCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGG CCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCTGTCCTCCCTC TCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG GATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGG CCCGTCTTCCGTCCTCCCTCTCACCCCCCGC	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0260 a0002c0002t0002g0260	1	193	0.0052	480	c.646 others(497): Show c.646-1474_646-1473insTGGATCCCATGGCCCGTCTTCCGTCCTC CCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCC CCCGGATCCCATGGCCCGTCTTCCGCCCTCCCTCTCACCCCCCGGATCCC ATGATCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTC TTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTC CCTCTCACCCCCCGCATCCCATGGCCCGTCTTCTGTCCTCCCTCTCACCC CCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCC ATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTC TTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTC CCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCC CC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852855	C C	CATCCCAT others(473): Show CATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGG CCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCAGATCCCATGGCCCGTCTTCCGTCCTCCCTC TCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCA GATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGG CCCGTCTTCCGTCCTCCCTCTCACCCCCCAGATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCAGATCCCATGGCCCGTCTTCCGTCCTCCCTC TCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG CATCCCATGGCCCGTCTTCTGTCCTCCCTCTCACCCCCCGGATCCCATGG CCCGTCTTCCGTCCTCCCTCTCACCCTCAAG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0015 a0015	a0015c0016 a0015c0016	a0015c0016t0001 a0015c0016t0001	a0015c0016t0001g0005 a0015c0016t0001g0005	1	149	0.0067	480	c.646 others(497): Show c.646-1419_646-1418insGTCTTCCGTCCTCCCTCTCACCCCCCGC ATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGC CCGTCTTCCGTCCTCCCTCTCACCCCCCAGATCCCATGGCCCGTCTTCCG TCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCT CACCCCCCAGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGG ATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCAGATCCCATGGC CCGTCTTCCGTCCTCCCTCTCACCCCCCAGATCCCATGGCCCGTCTTCCG TCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCT CACCCCCCGCATCCCATGGCCCGTCTTCTGTCCTCCCTCTCACCCCCCGG ATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCTCAAGATCCCATGGC CC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
TBXAS1_chr7_139824264_140025293	139950664	A A	ACCCTCCA others(473): Show ACCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGC CCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCC TCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTC CATCTATGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCA TCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATC TACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTA CGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACG GGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGG ACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGAC CCCCTCGCCCTCCATCTACGGGACCCCCTCG	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	127	0.0079	480	c.451 others(497): Show c.451-2558_451-2557insCTCCATCTATGGGACCCCCTCGCCCTCC ATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCAT CTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCT ACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTAC GGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGG GACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGA CCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACC CCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCC CTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCT CGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCG CC	TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
TDRP_chr8_484946_549834	511349	T T	TAAAAAAT others(473): Show TAAAAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTCATGGAATGGGAAAATTTATTTGCAAAGCATACATCTGATA AGGAGTTATTACTCAAAATATATAAGGAACTCAAACAACTCAATAGCAAG AAAACCAAAATCCAAATTCAAAAAATAGGCAATAGACCGGAATAGACATT TTGCTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTTT ATTTATTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTATTATACT CTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTAT ACATGTGCCATGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATAT ACCTAATGCTAGATGACACATTAGTGGGTGC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01993.hp1 HG01943.hp2 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0149 a0001c0001t0002g0203 a0001c0001t0002g0149 a0001c0001t0002g0203	2	440	0.0045	480	c.109 others(499): Show c.109-16753_109-16752insGCACCCACTAATGTGTCATCTAGCAT TAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCATGGCA CATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAA CTTAGAGTATAATAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAGAAA TAAATAAAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAA AGCAAAATGTCTATTCCGGTCTATTGCCTATTTTTTGAATTTGGATTTTG GTTTTCTTGCTATTGAGTTGTTTGAGTTCCTTATATATTTTGAGTAATAA CTCCTTATCAGATGTATGCTTTGCAAATAAATTTTCCCATTCCATGAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATT TTTT	TDRP	ENSG00000180190.13	transcript	ENST00000324079.11	protein_coding	1/2			chr8	TogoVar
TENM4_chr11_78647829_79446030	79139232	T T	TAAATATA others(473): Show TAAATATATAAAACATATATTATATTTATAGAAATATATAAAACATATAT TATATTTATAGAAATATATAAAACATATATTATATTTATAGAAATATATA AAACATATATTATATTTATAGAAATATATAAAACATATATTATATTTATA GAAATATATAAAACATATATTATATTTATAGAAATATATAAAACATATAT TATATTTATAGAAATATATAAAACATATATTATATTTATAGAAATATATA AAACATATATTATATTTATAGAAATATATAAAACATATATTATATTTATA GAAATATATAAAACATATATTATATTTATAGAAATATATAAAACATATAT TATATTTATAGAAATATATAAAACATATATTATATTTATAGAAATATATA AAATATATATTATATTTATAGAAATATATAAAATATATATTATATTTATA GAAATATATAAAATATATATTATATTTATAG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0034 a0001c0034	a0001c0034t0017 a0001c0034t0017	a0001c0034t0017g0089 a0001c0034t0017g0089	1	78	0.0128	480	c.-66 others(497): Show c.-66+9477_-66+9478insCTATAAATATAATATATATTTTATATAT TTCTATAAATATAATATATATTTTATATATTTCTATAAATATAATATATA TTTTATATATTTCTATAAATATAATATATGTTTTATATATTTCTATAAAT ATAATATATGTTTTATATATTTCTATAAATATAATATATGTTTTATATAT TTCTATAAATATAATATATGTTTTATATATTTCTATAAATATAATATATG TTTTATATATTTCTATAAATATAATATATGTTTTATATATTTCTATAAAT ATAATATATGTTTTATATATTTCTATAAATATAATATATGTTTTATATAT TTCTATAAATATAATATATGTTTTATATATTTCTATAAATATAATATATG TTTTATATATTTCTATAAATATAATATATGTTTTATATATTTCTATAAAT ATAATATATGTTTTATATATTTCTATAAATATAATATATGTTTTATATAT TT	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	4/33			chr11	TogoVar
TENM4_chr11_78647829_79446030	79139595	A A	ATATATAA others(473): Show ATATATAAAATATATATTATATTTCTAGAAATATATAAAATATATATTAT ATTTCTATAAATATATAAAATATATATTATATTTCTATAAATATATAAAA TATATATTATATTTATAGAAATATATAAAATATATATTATATTTATAGAA ATATATAAAATATATATTATATTTATAGAAATATATAAAATATATATTAT ATTTATAGAAATATATAAAATATATATTATATTTATAGAAATATATAAAA TATATATTATATTTATAGAAATATATAAAATATATATTATATTTATAGAA ATATATAAAATATATATTATATTTATAGAAATATATAAAATATATATTAT ATTTATAGAAATATATAAAATATATATTATATTTATAGAAATATATAAAA TATATATTATATTTATAGAAATATATAAAATATATATTATATTTATAGAA ATATATAAAATATATATTATATTTATATAAG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0018 a0001c0007t0018	a0001c0007t0018g0091 a0001c0007t0018g0091	1	68	0.0147	480	c.-66 others(497): Show c.-66+9114_-66+9115insCTTATATAAATATAATATATATTTTATA TATTTCTATAAATATAATATATATTTTATATATTTCTATAAATATAATAT ATATTTTATATATTTCTATAAATATAATATATATTTTATATATTTCTATA AATATAATATATATTTTATATATTTCTATAAATATAATATATATTTTATA TATTTCTATAAATATAATATATATTTTATATATTTCTATAAATATAATAT ATATTTTATATATTTCTATAAATATAATATATATTTTATATATTTCTATA AATATAATATATATTTTATATATTTCTATAAATATAATATATATTTTATA TATTTCTATAAATATAATATATATTTTATATATTTCTATAAATATAATAT ATATTTTATATATTTATAGAAATATAATATATATTTTATATATTTATAGA AATATAATATATATTTTATATATTTCTAGAAATATAATATATATTTTATA TA	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	4/33			chr11	TogoVar
TERT_chr5_1248167_1300068	1273190	A A	ACATCAGA others(473): Show ACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGA CCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGT CACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACC CCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCA CAGTCACCACATCAGACCCTACGACCGCCATCCACAGTCACCACATCAGA CCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATC CACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCA GACCCTACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGC CATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCAC ATCAGACCCCACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	365	0.0027	480	c.228 others(497): Show c.2287-911_2287-910insGTGACTGTGGATGGCGGTCGTGGGGTCT GATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGG ATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTAGG GTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACT GTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTG GGGTCTGATGTGGTGACTGTGGATGGCGGTCGTAGGGTCTGATGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCG TGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTG GTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGG CGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGA TG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TMEM120B_chr12_121707752_121787068	121747900	G G	GGTAGAAG others(473): Show GGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGC GGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACT GGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGA AGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGA GGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGG TAGAAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAG GTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGG CACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTA GAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGG GAGGCTGGGGTAGAAGGTGGGAGACACTGAA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	311	0.0032	480	c.189 others(495): Show c.189-418_189-417insCGGGAGGCTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC ACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCACTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGACACTGAAGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM255B_chr13_113754226_113821995	113817328	C C	CGGGACAC others(473): Show CGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCCCCACG GGACACATCCCTCCTCCCCCCACGGGACACATACCCCCTCCCTCCAGGGG ACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCCACGGGAC ACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCAGGGGACAC ATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCCACGGGACACAT CCCCCCTCCCCCCACGGGACACATCCCCCCTCCCTCCAGGGGACACATCC CCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATACCC CCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCC TCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTC CCTCCAGGGGACACATCCCCCCTCCCTCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0111 a0001c0001t0111	a0001c0001t0111g0166 a0001c0001t0111g0166	1	167	0.0060	480	c.54 others(491): Show c.5425_*5426insGGGACACATCCCCCCTCCCCCCACGGGACACATA CCCCCTCCCCCCACGGGACACATCCCTCCTCCCCCCACGGGACACATACC CCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGACACATCCCCC CTCCCCCCACGGGACACATCCCCCCTCCCTCCAGGGGACACATCCCCCCT CCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCC CCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCT CCAGGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCC ACGGGACACATACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTC GGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGG GACACATACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCAT	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding		334		chr13	TogoVar
TMPRSS2_chr21_41459305_41513158	41474574	A A	AGTGAGGG others(473): Show AGTGAGGGGGTGGGTGAGGGGTGGGTGAGGTGGTGAGTGAGGGGGTGAGG GGTGAGTAAGGAGGTGAGGGGGTGAGTGAGGGGGTGGGTGAGGGGTGGGT GAGGGGATGAGGGAGTGATTCAGAGGGTGAAGGGGTGAGTGAGGGAGTGA AGGCATGATTGAGGGGGTGAAGGGGTGAGTGAGGGGGTGACTGAGGGGTG AAGGGGGGAGTGAGGAGGAGAGTGAGGGGGTGAAGGCATGAGTGAGGGGG TGAATGGGTGAGAGACGGGGTGAGTGAGGGGTGAAGGGATGAATGAGGGG GTAAGTAAGGGGTTGAGGGGGTGAGGGGGTGAGTGAGGAGGTGAAGGGTG AGTGAGGGCGTGAGGGGGTGAGGGAGTGAGGGATTAGTGAGGGGGTGAGG GGTTGAGTGAGGAGGTGAGCAGGTGGGTGAGTGGATGAAGGGGTGAGTGA GGGGGTGAGGGGTGAATGAGGGGTTGAGTAG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0076 a0002c0006t0001g0076	1	300	0.0033	480	c.728 others(497): Show c.728-1079_728-1078insCTACTCAACCCCTCATTCACCCCTCACC CCCTCACTCACCCCTTCATCCACTCACCCACCTGCTCACCTCCTCACTCA ACCCCTCACCCCCTCACTAATCCCTCACTCCCTCACCCCCTCACGCCCTC ACTCACCCTTCACCTCCTCACTCACCCCCTCACCCCCTCAACCCCTTACT TACCCCCTCATTCATCCCTTCACCCCTCACTCACCCCGTCTCTCACCCAT TCACCCCCTCACTCATGCCTTCACCCCCTCACTCTCCTCCTCACTCCCCC CTTCACCCCTCAGTCACCCCCTCACTCACCCCTTCACCCCCTCAATCATG CCTTCACTCCCTCACTCACCCCTTCACCCTCTGAATCACTCCCTCATCCC CTCACCCACCCCTCACCCACCCCCTCACTCACCCCCTCACCTCCTTACTC ACCCCTCACCCCCTCACTCACCACCTCACCCACCCCTCACCCACCCCCTC AC	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TP53AIP1_chr11_128930370_128947871	128930816	T T	TGGGGTTA others(473): Show TGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGG TTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGG GAGGCCAGGGTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAAGGAGGC CGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGG TTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGG GAGGCCGGGGTTAGGGAGGCCAGGGTTAGGGAGGCCGGGGTTAGGGAGGC CGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGTTAGGGAGGCCAGGGG TTAAGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGG GAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGC TGGGGTTAGGGAGGCCGGGGTTAGGGAGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0005 a0002c0002t0002g0005	1	165	0.0061	480	c.47 others(491): Show c.4774_*4775insGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCC TCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCT AACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCTTAACCC CTGGCCTCCCTAACCCCAGCCTCCCTACCCTGGCCTCCCTAACCCCGGCC TCCCTAACCCCGGCCTCCCTAACCCTGGCCTCCCTAACCCCGGCCTCCCT AACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCC CGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCC TCCTTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTACCCTGGCCTCCCT AACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCC TGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4553		chr11	TogoVar
TPR_chr1_186306652_186380253	186327245	T T	TAAATATA others(473): Show TAAATATATATAAATATATAATATATATTTATAATATAAATATATATATA AATATATAATATATATTTATATATATAAAATATATATAAATATATATTAT ATATTTATATATATAAATATATATAAATATATAATATATATTTATATATA TAAATATATAAATATATAATATATATTTATATAAATATATATATATAAAT ATATAATATATTTATATATATAAATATATATAAATATATATTATATATTT ATATATATAAATATATATAAATATATATTATATATTTATATATATAAATA TATATAAATATATAATATATATTTATATATATAAATATATAATATATATT ATATATATAAATATATATAATATATATTATATATTTATATATATAATATA TATAAATATATAATATATATTATATATATAATATATAATATATATTATAT ATATAATATATAATATATATATTTATATATA	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	381	0.0026	480	c.588 others(497): Show c.5889+214_5889+215insTATATATAAATATATATATTATATATTA TATATATAATATATATTATATATTATATATATAATATATATTATATATTT ATATATATTATATATATAAATATATAATATATATTATATATATTTATATA TATAATATATATTATATATTTATATATATAAATATATATTATATATTTAT ATATATTTATATATATAAATATATAATATATATTTATATATATTTATATA TATAAATATATAATATATATTTATATATATTTATATATATAAATATATTA TATATTTATATATATATATTTATATAAATATATATTATATATTTATATAT TTATATATATAAATATATATTATATATTTATATATATTTATATATATAAA TATATAATATATATTTATATATATTTTATATATATAAATATATATTATAT ATTTATATATATATTTATATTATAAATATATATTATATATTTATATATAT TT	TPR	ENSG00000047410.14	transcript	ENST00000367478.9	protein_coding	40/50			chr1	TogoVar
TRAF6_chr11_36478769_36515272	36507363	C C	CATACGTA others(473): Show CATACGTAAATGTATATATGTATATATACATGTATTATACATACGTAAAT GTATATATGTATATATACATGTATTATACATACGTAAATGTATATATGTA TATATACATGTATTATACATACGTAAATGTATATATGTATATATACATGT ATTATACATACGTAAATGTATATATGTATATATACATGTATTATACATAC GTAAATGTATATATGTATATATACATTATACATACGTAAATGTATAATGT ATATATACATTATACATACGTAAATGTATAATGTATATATACATTATACA TACGTAAATGTATAATGTATATATACATTATACATACGTAAATGTATAAT GTATATATACATTATACATACGTAAATGTATAATGTATATATACATTATA CATACGTAAATGTATAATGTATATATACATTATACATACGTAAATGTATG TATATATACATTATACATACGTAAATGTATT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	365	0.0027	480	c.-23 others(497): Show c.-23+2684_-23+2685insAATACATTTACGTATGTATAATGTATAT ATACATACATTTACGTATGTATAATGTATATATACATTATACATTTACGT ATGTATAATGTATATATACATTATACATTTACGTATGTATAATGTATATA TACATTATACATTTACGTATGTATAATGTATATATACATTATACATTTAC GTATGTATAATGTATATATACATTATACATTTACGTATGTATAATGTATA TATACATTATACATTTACGTATGTATAATGTATATATACATATATACATT TACGTATGTATAATACATGTATATATACATATATACATTTACGTATGTAT AATACATGTATATATACATATATACATTTACGTATGTATAATACATGTAT ATATACATATATACATTTACGTATGTATAATACATGTATATATACATATA TACATTTACGTATGTATAATACATGTATATATACATATATACATTTACGT AT	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRIML1_chr4_188134441_188152743	188151445	G G	GAGGGTGA others(473): Show GAGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGG GGTTGAGAAGGGGAGTGAGAGTGGGGATGAGAAGAGGAATGAGAGTGGGG GTGAGAAGGGGAATGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGT GAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGCTGA GAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGTTGAGA AGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAG AGGAATGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGTGGTGAGAAGGG GAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGCTGAGAAGGGGA GTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGGTTGAGAAGGGGAT TGAGAGAGAGGGTGAGAAGGGGAGTGAGAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0149 a0001c0003t0002g0149	1	209	0.0048	480	c.40 others(491): Show c.4073_*4074insAGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAA GGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGATGAGAAGA GGAATGAGAGTGGGGGTGAGAAGGGGAATGAGAGTGGGGGTGAGAAGGGG AGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAG TGAGAGTGGGGCTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTG AGAGTGGGGTTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAG AGTGGGGGTGAGAAGAGGAATGAGAGTGGGGGTGAGAAGGGGAGTGAGAG TGGTGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTG GGGCTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGG GGTTGAGAAGGGGATTGAGAGAGAGGGTGAGAAGGGGAGTGAGAAT	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		3703		chr4	TogoVar
TWIST2_chr2_238843085_238915534	238870359	A A	ACACACCA others(473): Show ACACACCACACCCCATACACACCACACCCCACACACACCACACACCCCAC ACACACCACACACCCCACACACACCACACCCCATACACACCACACACCCC ACACACACCACACCCCACACACACCACACCCCACACACACCACACCCCAC ACACACCACACAAACCACACACACCACACACACCACACCCCACACACACC GCACCCCACACACACCACACAAACCACACACACCACACCCCACACACCCC ACACACACCACACACCCCACACACCCCCCACACACCACACCCCATACACA CCACACACCCCACACACACCACACCCCACACACCACACACCCCACACACA CCACACCCCACACACACCACACCCCACACACACCACACCCCATACACACC ACACCCCACACACACCACACACCCCACACACACCACACCCCACACACACC ACACCCCACACACACCACACCCCACACACAC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02647.hp1 HG02615.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0321 a0001c0001t0001g0184 a0001c0001t0001g0321	2	294	0.0068	480	c.35 others(499): Show c.35+21631_*35+21632insCACACCCCATACACACCACACCCCAC ACACACCACACACCCCACACACACCACACACCCCACACACACCACACCCC ATACACACCACACACCCCACACACACCACACCCCACACACACCACACCCC ACACACACCACACCCCACACACACCACACAAACCACACACACCACACACA CCACACCCCACACACACCGCACCCCACACACACCACACAAACCACACACA CCACACCCCACACACCCCACACACACCACACACCCCACACACCCCCCACA CACCACACCCCATACACACCACACACCCCACACACACCACACCCCACACA CCACACACCCCACACACACCACACCCCACACACACCACACCCCACACACA CCACACCCCATACACACCACACCCCACACACACCACACACCCCACACACA CCACACCCCACACACACCACACCCCACACACACCACACCCCACACACACC ACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
ULK1_chr12_131889622_131928150	131918778	C C	CGGGTGTG others(473): Show CGGGTGTGGGGTGTCGGGGGTGTGGGGTGTAGAGTGTGGGGTGTAGTGTG TGGGGTGTCAGGTGTGTGGGGTGTCGGGTGTGGGGTGTAGGGTATGGGGT GTCGGGTGTGTGGGGTGTCGGGTGTGTGGGGTATAGGGTGTGTGGGGTAT AGGGTGTGTGGGGTGTCGGGTGTGGGGTGTCGGGGGTGTGGGGTGTAGAG TGTGGGGTGTAGTGTGTGGGGTGTCAGGTGTGTGGGGTGTCGGGTGTGGG GTGTAGGGTGTGTGGGGTATAGGGTGTGTGGGGGTGTCGGGTGTGGGGTG TCGGGGGTGTGGGGTGTAGAGTGTGGGGTGTAGTGTGGGGTGTCAGGTGT GTGGGGTGTCGGGTGTGGGGTGTCAGGTGTGTGGGGTGTAGGGTGTGGGG TGTAGGGTGTGTGGTGTAGGGTATGGGGTGTCGGGTGTGTGGGGTGTCGG GGTGTGTGGGGTATAGGGTGTGTGGGGTGTT	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0004 a0002c0011t0004	a0002c0011t0004g0026 a0002c0011t0004g0026	1	220	0.0045	480	c.251 others(497): Show c.2511+128_2511+129insAGTGTGGGGTGTAGTGTGTGGGGTGTCA GGTGTGTGGGGTGTCGGGTGTGGGGTGTAGGGTATGGGGTGTCGGGTGTG TGGGGTGTCGGGTGTGTGGGGTATAGGGTGTGTGGGGTATAGGGTGTGTG GGGTGTCGGGTGTGGGGTGTCGGGGGTGTGGGGTGTAGAGTGTGGGGTGT AGTGTGTGGGGTGTCAGGTGTGTGGGGTGTCGGGTGTGGGGTGTAGGGTG TGTGGGGTATAGGGTGTGTGGGGGTGTCGGGTGTGGGGTGTCGGGGGTGT GGGGTGTAGAGTGTGGGGTGTAGTGTGGGGTGTCAGGTGTGTGGGGTGTC GGGTGTGGGGTGTCAGGTGTGTGGGGTGTAGGGTGTGGGGTGTAGGGTGT GTGGTGTAGGGTATGGGGTGTCGGGTGTGTGGGGTGTCGGGGTGTGTGGG GTATAGGGTGTGTGGGGTGTTGGGTGTGGGGTGTCGGGGGTGTGGGGTGT AG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	23/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
VAV2_chr9_133756894_133997324	133827168	C C	CCTACCGC others(473): Show CCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCCAGC TACCGCTGCGCCCACTGAGGCTGACCACTGAGCACGGGCATCGCCAGCTA CCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCACCTACC GCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCCACCTACCGC TGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTACCGCTG CGCCCACTGAGGCTGACCACTGAGCACGGGCATCGCCACCTACCGCTGCG CCCACTGGGGCTGACCACTGAGCACGGGCATCACCACCTACCGCTGTGCC CACTGAGGCTGACCACTGAGCACGGGCATCGCCAGCTACCGCTGCGCCCA CTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTACCGCTGCGCCCACT GGGGCTGACCACTGAGCACGGGCATCGCCAG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0044 a0001c0002t0017g0044	1	196	0.0051	480	c.449 others(497): Show c.449+7103_449+7104insCTGGCGATGCCCGTGCTCAGTGGTCAGC CCCAGTGGGCGCAGCGGTAGCTGGCGATGCCCGTGCTCAGTGGTCAGCCC CAGTGGGCGCAGCGGTAGCTGGCGATGCCCGTGCTCAGTGGTCAGCCTCA GTGGGCACAGCGGTAGGTGGTGATGCCCGTGCTCAGTGGTCAGCCCCAGT GGGCGCAGCGGTAGGTGGCGATGCCCGTGCTCAGTGGTCAGCCTCAGTGG GCGCAGCGGTAGCTGGCGATGCCCGTGCTCAGTGGTCAGCCCCAGTGGGC GCAGCGGTAGGTGGCGATGCCCGTGCTCAGTGGTCAGCCCCAGTGGGCGC AGCGGTAGGTGGTGATGCCCGTGCTCAGTGGTCAGCCCCAGTGGGCGCAG CGGTAGCTGGCGATGCCCGTGCTCAGTGGTCAGCCTCAGTGGGCGCAGCG GTAGCTGGCGATGCCCGTGCTCAGTGGTCAGCCCCAGTGGGCGCAGCGGT AG	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133827226	T T	TGCCCACT others(473): Show TGCCCACTGAGGCTGACCACTGAGCACGGGCATCGCCAGCTACCGCTGTG CCCACTGAGGCTGACCACTGAGCACGGGCATCGCCAGCTACCGCTGCGCC CACTGAGGCTGACCACTGAGCACGGGCATCGCCAGCTACCGCTGCGCCCA CTGAGGCTGACCACTGAGCACGGGCATCGCCAGCTACCGCTGCGCCCACT GAGGCTGACCACTGAGCACGGGCATCGCCAGCTACCGCTGCGCCCACTGA GGCTGACCACTGAGCACGGGCATCGCCACCTACCGCTGCGCCCACTGGGG CTGACCACTGAGCACGGGCATCGCCAGCTACCGCTGTGCCCACTGAGGCT GACCACTGAGCACGGGCATCGCCAGCTACCGCTGTGCCCACTGGGGCTGA CCACTGAGCACGGGCATCGCCAGCTACCGCTGTGCCCACTGAGGCTGACC ACTGAGCACGGGCATCGCCACCTACCGCTGC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0004 a0004	a0004c0018 a0004c0018	a0004c0018t0022 a0004c0018t0022	a0004c0018t0022g0121 a0004c0018t0022g0121	1	167	0.0060	480	c.449 others(497): Show c.449+7045_449+7046insGCAGCGGTAGGTGGCGATGCCCGTGCTC AGTGGTCAGCCTCAGTGGGCACAGCGGTAGCTGGCGATGCCCGTGCTCAG TGGTCAGCCCCAGTGGGCACAGCGGTAGCTGGCGATGCCCGTGCTCAGTG GTCAGCCTCAGTGGGCACAGCGGTAGCTGGCGATGCCCGTGCTCAGTGGT CAGCCCCAGTGGGCGCAGCGGTAGGTGGCGATGCCCGTGCTCAGTGGTCA GCCTCAGTGGGCGCAGCGGTAGCTGGCGATGCCCGTGCTCAGTGGTCAGC CTCAGTGGGCGCAGCGGTAGCTGGCGATGCCCGTGCTCAGTGGTCAGCCT CAGTGGGCGCAGCGGTAGCTGGCGATGCCCGTGCTCAGTGGTCAGCCTCA GTGGGCGCAGCGGTAGCTGGCGATGCCCGTGCTCAGTGGTCAGCCTCAGT GGGCACAGCGGTAGCTGGCGATGCCCGTGCTCAGTGGTCAGCCTCAGTGG GC	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133827936	C C	CCTACCGC others(473): Show CCTACCGCTGCGCCCACTGAGGCTGACCACTGAGCACGGGCATCGCCAGC TACTGCTGCGCCCACTGAGGCTGACCACTGAGCACGGGCATCGCCAGCTA CCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTACC GCTGCGCCCACTGAGGCTGACCACTGAGCACGGGCATCGCCAGCTACCGC TGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCACCTACCGCTG CGCCCACTGAGGCTGACCACTGAGCACGGGCATCGCCAGCTACCGCTGCG CCCACTGAGGCTGACCACTGAGCACGGGCATCGCCAGCTACCGCTGCGCC CACTGAGGCTGACCACTGAGCACGGGCATCGCCAGCTACCGCTGCGCCCA CTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTACCGCTGCGCCCACT GAGGCTGACCACTGAGCACGGGCATCGCCAG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0056 a0001c0006t0002g0056	1	173	0.0058	480	c.449 others(497): Show c.449+6335_449+6336insCTGGCGATGCCCGTGCTCAGTGGTCAGC CTCAGTGGGCGCAGCGGTAGCTGGCGATGCCCGTGCTCAGTGGTCAGCCC CAGTGGGCGCAGCGGTAGCTGGCGATGCCCGTGCTCAGTGGTCAGCCTCA GTGGGCGCAGCGGTAGCTGGCGATGCCCGTGCTCAGTGGTCAGCCTCAGT GGGCGCAGCGGTAGCTGGCGATGCCCGTGCTCAGTGGTCAGCCTCAGTGG GCGCAGCGGTAGGTGGTGATGCCCGTGCTCAGTGGTCAGCCCCAGTGGGC GCAGCGGTAGCTGGCGATGCCCGTGCTCAGTGGTCAGCCTCAGTGGGCGC AGCGGTAGCTGGCGATGCCCGTGCTCAGTGGTCAGCCCCAGTGGGCGCAG CGGTAGCTGGCGATGCCCGTGCTCAGTGGTCAGCCTCAGTGGGCGCAGCA GTAGCTGGCGATGCCCGTGCTCAGTGGTCAGCCTCAGTGGGCGCAGCGGT AG	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133828243	G G	GGGCTGAC others(473): Show GGGCTGACCACTGAGCACGGGCATCGCCAGCTACCGCTGTGCCCACTGAG GCTGACCACTGAGCACGGGCATCGCCAGCTACCGCTGTGCCCACTGAGGC TGACCACTGAGCACGGGCATCGCCAGCTACCGCTGTGCCCACTGAGGCTG ACCACTGAGCACGGGCATCGCCAGCTACCGCTGTGCCCACTGAGGCTGAC CACTGAGCACGGGCATCGCCAGCTACCGCTGTGCCCACTGAGGCTGACCA CTGAGCACGGGCATCGCCAGCTACCGCTGTGCCCACTGAGGCTGACCACT GAGCACGGGCATCGCCAGCTACCGCTGCGCCCACTGGGGCTGACCACTGA GCACGGGCATCGCCAGCTACTGCTGTGCCCACTGAGGCTGACCACTGAGC ACGGGCATCGCCAGCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCAC GGGCATCGCCAGCTACTGCTGTGCCCACTGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0004 a0004	a0004c0018 a0004c0018	a0004c0018t0022 a0004c0018t0022	a0004c0018t0022g0121 a0004c0018t0022g0121	1	116	0.0086	480	c.449 others(497): Show c.449+6028_449+6029insTCAGTGGGCACAGCAGTAGCTGGCGATG CCCGTGCTCAGTGGTCAGCCCCAGTGGGCGCAGCGGTAGCTGGCGATGCC CGTGCTCAGTGGTCAGCCTCAGTGGGCACAGCAGTAGCTGGCGATGCCCG TGCTCAGTGGTCAGCCCCAGTGGGCGCAGCGGTAGCTGGCGATGCCCGTG CTCAGTGGTCAGCCTCAGTGGGCACAGCGGTAGCTGGCGATGCCCGTGCT CAGTGGTCAGCCTCAGTGGGCACAGCGGTAGCTGGCGATGCCCGTGCTCA GTGGTCAGCCTCAGTGGGCACAGCGGTAGCTGGCGATGCCCGTGCTCAGT GGTCAGCCTCAGTGGGCACAGCGGTAGCTGGCGATGCCCGTGCTCAGTGG TCAGCCTCAGTGGGCACAGCGGTAGCTGGCGATGCCCGTGCTCAGTGGTC AGCCTCAGTGGGCACAGCGGTAGCTGGCGATGCCCGTGCTCAGTGGTCAG CC	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CGATAGAT others(473): Show CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0165 a0001c0001t0003g0165	1	177	0.0056	480	c.53+ others(495): Show c.53+2028_53+2029insAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CTATAGAT others(473): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGACAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18954.hp1 NA18946.hp2 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	2	178	0.0112	480	c.53+ others(495): Show c.53+2017_53+2018insTATAGATAGACATATAGATGTATCTATCTA TAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGTATC TATCTATAGATAGACATATAGATGTATCTATCGATAGACAGATAGATGTA TCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATC TATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCTA TCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCTATC GATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGA TAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATC TATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGA TAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23			chr20	TogoVar
VPS16_chr20_2835745_2871732	2842868	A A	AGATAGAT others(473): Show AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0284	1	301	0.0033	480	c.53+ others(495): Show c.53+2076_53+2077insGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGT ATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGAT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(473): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCATCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCTCCCCCTCCCCT CTCCTCCCCCTCCCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCCTCTCCC CTCCCCTCCCCCTCTCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTC TCCCCTCCCCCTCTCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCT CCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCT CTCCTCTCCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCC TCTCCTCTCCCCCTCCCCCGTCCCCCTCCTCTCCCCCTCTCCCCCTCACC CTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTC CCCCTCCCCTTTCCCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0024 a0003c0003t0024	a0003c0003t0024g0003 a0003c0003t0024g0003	1	33	0.0303	480	c.53- others(493): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCATCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCTCCCCC TCCCCTCTCCTCCCCCTCCCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCC TCTCCCCTCCCCTCCCCCTCTCCCCTCCTCTCCCCTCCCCCTCTCCCCTC CCCCTCTCCCCTCCCCCTCTCCCCTCCTCTCCCCTCCCCCTCTCCCCTCC CCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCT CCCCCTCTCCTCTCCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCC TCCCCCTCTCCTCTCCCCCTCCCCCGTCCCCCTCCTCTCCCCCTCTCCCC CTCACCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTC CCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTCCCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(473): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCT CCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCC TCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTC TCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCC TCCCCCTCTCCTCTCCCCCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCC TCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTC CCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTC CCCCTCCCCTTTCCCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01123.hp2 HG02602.hp2 HG00741.hp2 HG01123.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0002 a0001c0001t0016	a0001c0001t0002g0068 a0001c0001t0002g0246 a0001c0001t0016g0103 a0001c0001t0002g0068 a0001c0001t0002g0246 a0001c0001t0016g0103	3	35	0.0857	480	c.53- others(493): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCT CTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTC CCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCT CTCCCCTCCCCCTCTCCTCTCCCCCTCCCCCTCCTCTCCCCCTCTCCCCC TCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTC CCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTC CCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTCCCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA5B2_chr3_184224585_184247329	184235770	C C	CCATGTGT others(473): Show CCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTC CCACACACAGCCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTAC CTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCACACACAG CCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTC CCACACACAGCCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTAC CTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCACACACAG CCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTC CCACACACAGCCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTAC CTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCACACACAG CCATGTGTACCTCCAGAGTCCCACACACAGT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0039 a0002c0002t0002g0039	1	217	0.0046	480	c.110 others(497): Show c.1102-377_1102-376insGTACCTCCAGAGTCCCACACACAGCCAT GTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCAC ACACAGCCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCC AGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCACACACAGCCAT GTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCAC ACACAGCCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCC AGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCACACACAGCCAT GTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCAC ACACAGCCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCC AGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCACACACAGTCAT GT	VWA5B2	ENSG00000145198.15	transcript	ENST00000691901.1	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
WNK2_chr9_93179139_93325569	93208749	G G	GTGTTTTG others(473): Show GTGTTTTGTGTGTGTTCATGTGTGCATGTTCTTGCATGTGTTCTGTGTGT TCATGTGTGTTCTGTGTATTCTTTGTGTGTGTTCGTGTGTCAGTGTGTTC TGTGTGTTATTCATGTGTCCATGTGTTCTGTGTATGTTCATGTGTGTGTG TTCTGTGTGTTTTGTGTGTGTGTGTGTTCTGTGTGTTCTTTGTGTGTTCT GTGTTTTTGTGTGTGTTCTTCGTGTGTGTGTTCTGTATGTTTTTTGTATA TGCGTGTCCTGTGTTCATGTGTTCTGTGTGTTCTTTGTGTGTGTTCTGTG TGCTCTTCCTGTGTGTGTTCTGTGTGTTCTTCGTGTGTGTGTTCTTCGTG TGTGTGTTATTCATGTGTGTGTTCTGTGTGTTCTTTGTATGTGTTCTGTG TTTTGTGTGTGTGTGTTCTGTGTGTTCTTTGTGTGTGTGTTCTGTGTGTT CTTCGTGTGTGTGTTCTGTGTGTTGTCTGCA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02630.hp2 HG06807.hp2 HG02258.hp2 HG02630.hp2 HG06807.hp2	a0001 a0008 a0001 a0008	a0001c0024 a0008c0020 a0001c0024 a0008c0020	a0001c0024t0001 a0008c0020t0001 a0001c0024t0001 a0008c0020t0001	a0001c0024t0001g0292 a0001c0024t0001g0293 a0008c0020t0001g0313 a0001c0024t0001g0292 a0001c0024t0001g0293 a0008c0020t0001g0313	3	139	0.0216	480	c.682 others(499): Show c.682-20944_682-20943insTTTGTGTGTGTTCATGTGTGCATGTT CTTGCATGTGTTCTGTGTGTTCATGTGTGTTCTGTGTATTCTTTGTGTGT GTTCGTGTGTCAGTGTGTTCTGTGTGTTATTCATGTGTCCATGTGTTCTG TGTATGTTCATGTGTGTGTGTTCTGTGTGTTTTGTGTGTGTGTGTGTTCT GTGTGTTCTTTGTGTGTTCTGTGTTTTTGTGTGTGTTCTTCGTGTGTGTG TTCTGTATGTTTTTTGTATATGCGTGTCCTGTGTTCATGTGTTCTGTGTG TTCTTTGTGTGTGTTCTGTGTGCTCTTCCTGTGTGTGTTCTGTGTGTTCT TCGTGTGTGTGTTCTTCGTGTGTGTGTTATTCATGTGTGTGTTCTGTGTG TTCTTTGTATGTGTTCTGTGTTTTGTGTGTGTGTGTTCTGTGTGTTCTTT GTGTGTGTGTTCTGTGTGTTCTTCGTGTGTGTGTTCTGTGTGTTGTCTGC ATGT	WNK2	ENSG00000165238.17	transcript	ENST00000427277.7	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr9	TogoVar
XG_chrX_2747040_2821500	2773585	A A	AGGAAGGA others(473): Show AGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGG GAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGA AGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAG GAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGA AGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAG GAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAAGGAAGGAAGGA GAGAAGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGA GAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGA GGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGG GAAGGAAGGAGAGAGGGAAGGAAGGAGAGAG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0140 a0001c0001t0005g0140	1	284	0.0035	480	c.104 others(497): Show c.104-1116_104-1115insGGGAAGGAAGGAGAGAGGGAAGGAAGGA GAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGA GAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGA GGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGG GAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGA AGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAAGGAAG GAAGGAGAGAAGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGA AGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAG GAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGA GAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGA GA	XG	ENSG00000124343.14	transcript	ENST00000644266.2	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
ZC3H12B_chrX_65029826_65512887	65450478	T T	TATATATG others(473): Show TATATATGTATATATGTACATATGTATATATATGTATATATGTACATATG TATATATGTATATATGTATATATATACATATGTATATATGTATATATGTA TATATATACATGTATACATATGTATACATGTATATATATACATATGTATA CATGTATATATGTATATATACATGTATACATATGTATATATGTATATATG TATAAATATACATATGTATATATATGTATATATGTATACATATGTATATA TACATATGTATATATATGTATATATGTATACATATGTATATATACATATG TATATATATGTATATATGTATACATATGTATATATACATATGTATATATA TGTATATATGCATATATACATATGTATATATATGTATATATGTATACATA TGTATATATACATATGTATATAAATGTATATATGCATATATACATATGTA TATATGCATATATATACATATGTATATATGC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0006 a0001c0001t0004g0006	1	147	0.0068	480	c.-15 others(501): Show c.-156-38164_-156-38163insATGTATATATGTACATATGTATAT ATATGTATATATGTACATATGTATATATGTATATATGTATATATATACAT ATGTATATATGTATATATGTATATATATACATGTATACATATGTATACAT GTATATATATACATATGTATACATGTATATATGTATATATACATGTATAC ATATGTATATATGTATATATGTATAAATATACATATGTATATATATGTAT ATATGTATACATATGTATATATACATATGTATATATATGTATATATGTAT ACATATGTATATATACATATGTATATATATGTATATATGTATACATATGT ATATATACATATGTATATATATGTATATATGCATATATACATATGTATAT ATATGTATATATGTATACATATGTATATATACATATGTATATAAATGTAT ATATGCATATATACATATGTATATATGCATATATATACATATGTATATAT GCATAT	ZC3H12B	ENSG00000102053.13	transcript	ENST00000338957.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
ZDHHC11B_chr5_705355_789729	725335	G G	GGATCTGC others(473): Show GGATCTGCCAGTGCCTTGAGCTGGGACTTCCCCTGCTGTGTGAGGACAAC CAGAGGAGGCCATCTGAGAACCGGGAAGGGGCTCTCATCAGACACCGGAT CTGCCGGCGCCTTGAGCTGGGACTTCCCCTGCTGTGTGAGGACAACCAGA GGAGGCCGTCGGAGAACCGGGAAGGGGCTCTCATCAGACACCGGATCTGC CAGTGCCTTGAGCTGGGACTTCCCCTGCTGTGTGAGGACAACCAGAGGAG GCCGTCGGAGAACCAGAAAGGGGCTCTCATCAGACACCGGATCTGCCAGT GCCTTGAGCTGGGACTTCCCCTGCTGTGTGAGGACAACCAGAGGAGGCCA TCTGAGAACCGGGAAGGGGCTCTCATCAGACACCGGATCTGCCGGCGCCT TGAGCTGGGACTTCCCCTGCTGTGTGAGGACAACCAGAGGAGGCCGTCGG AGAACCGGGAAGGGGCTCTCATCAGACACCA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0002 a0001c0040t0002	a0001c0040t0002g0018 a0001c0040t0002g0018	1	220	0.0045	480	c.105 others(499): Show c.1058+5098_1058+5099insTGGTGTCTGATGAGAGCCCCTTCCCG GTTCTCCGACGGCCTCCTCTGGTTGTCCTCACACAGCAGGGGAAGTCCCA GCTCAAGGCGCCGGCAGATCCGGTGTCTGATGAGAGCCCCTTCCCGGTTC TCAGATGGCCTCCTCTGGTTGTCCTCACACAGCAGGGGAAGTCCCAGCTC AAGGCACTGGCAGATCCGGTGTCTGATGAGAGCCCCTTTCTGGTTCTCCG ACGGCCTCCTCTGGTTGTCCTCACACAGCAGGGGAAGTCCCAGCTCAAGG CACTGGCAGATCCGGTGTCTGATGAGAGCCCCTTCCCGGTTCTCCGACGG CCTCCTCTGGTTGTCCTCACACAGCAGGGGAAGTCCCAGCTCAAGGCGCC GGCAGATCCGGTGTCTGATGAGAGCCCCTTCCCGGTTCTCAGATGGCCTC CTCTGGTTGTCCTCACACAGCAGGGGAAGTCCCAGCTCAAGGCACTGGCA GATC	ZDHHC11B	ENSG00000206077.14	transcript	ENST00000508859.8	protein_coding	12/13			chr5	TogoVar
ADAMTS16_chr5_5135330_5325304	5305033	C C	CCCACACC others(474): Show CCCACACCACACACACATCCCACACCAAACACACACACACATCCCACACC ACACACACACATCCCACACCACACACACACATCCACACCACACACACACA CATCCCACACCACACACACACAATCCCACACCACACACACAATCCCACAC CACACACACACACATCCCACACCACACACACACATCCCACACCACACACA CACACATCCCACACCACACACACACACCCCACACCACACACACACATCCA CACCACACACACACACATCCCACACCACACACAAATCCCACACCACACAC ACAATCCCACACCACACACACACACATCCCACACCACACACAACCCACGC CACACACACACATCCCACACCCATCCCACGCCACACACATCCACACCACA CACACATCCCACACCACACACACACACACATCCCATACCACACACACACA TCCCACACCACACACATCCCACACCACACACA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0040 a0004c0009t0040	a0004c0009t0040g0135 a0004c0009t0040g0135	1	216	0.0046	481	c.318 others(500): Show c.3186+1268_3186+1269insCACACCACACACACATCCCACACCAA ACACACACACACATCCCACACCACACACACACATCCCACACCACACACAC ACATCCACACCACACACACACACATCCCACACCACACACACACAATCCCA CACCACACACACAATCCCACACCACACACACACACATCCCACACCACACA CACACATCCCACACCACACACACACACATCCCACACCACACACACACACC CCACACCACACACACACATCCACACCACACACACACACATCCCACACCAC ACACAAATCCCACACCACACACACAATCCCACACCACACACACACACATC CCACACCACACACAACCCACGCCACACACACACATCCCACACCCATCCCA CGCCACACACATCCACACCACACACACATCCCACACCACACACACACACA CATCCCATACCACACACACACATCCCACACCACACACATCCCACACCACA CACAC	ADAMTS16	ENSG00000145536.15	transcript	ENST00000274181.7	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
AGMO_chr7_15195317_15567015	15529638	A A	ATATAGTA others(474): Show ATATAGTATATATATTCTATATACAGAATATATATAGTATATATATTCTA TATACAGAATATATATAGTATATATATTCTATATACAGAATATATATAGT ATATATATTCTATATACAGAATATATATAGTATATATATTCTATATACAG AATATATATACTATATATATTCTATATACAGAATATATATAGTATATATA TTCTATATACAGAATATATATAGTATATATATTCTGTATACAGAATATAT AGTATATATATTCTATATACAGAATATATATAGTATATATATTCTGTATA CAGAATATATATACTATATATATTCTATATACAGAATATATATACTATAT ATATTCTATATATAGAATATATATATAGTATATATATTCTGTATATAGAA TATATATAGTATATATATTCTGTATATAGAATATATATACTATATATATT CTGTATATAGAATATATATACTATATTAATTC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0131	1	57	0.0175	481	c.409 others(500): Show c.409+15133_409+15134insGAATTAATATAGTATATATATTCTAT ATACAGAATATATATAGTATATATATTCTATATACAGAATATATATACTA TATATATTCTATATACAGAATATATATACTATATATATATTCTATATATA GAATATATATAGTATATATATTCTGTATATAGAATATATATAGTATATAT ATTCTGTATACAGAATATATATACTATATATATTCTGTATATAGAATATA TATACTATATATTCTGTATACAGAATATATATACTATATATATTCTGTAT ATAGAATATATATACTATATATATTCTGTATATAGAATATATATAGTATA TATATTCTGTATATAGAATATATATACTATATATATTCTGTATATAGAAT ATATATACTATATATATTCTGTATATAGAATATATATACTATATATATTC TGTATATAGAATATATATACTATATATATTCTGTATATAGAATATATATA CTATA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15529638	A A	ATATAGTA others(474): Show ATATAGTATATATATTCTATATACAGAATATATATAGTATATATATTCTA TATACAGAATATATATAGTATATATATTCTATATACAGAATATATATAGT ATATATATTCTATATACAGAATATATATAGTATATATATTCTATATACAG AATATATATACTATATATATTCTATATACAGAATATATATAGTATATATA TTCTATATACAGAATATATATAGTATATATATTCTGTATACAGAATATAT AGTATATATATTCTATATACAGAATATATATAGTATATATATTCTGTATA CAGAATATATATACTATATATATTCTATATACAGAATATATATAGTATAT ATATTCTATATATAGAATATATATATAGTATATATATTCTGTATATAGAA TATATATAGTATATATATTCTGTATATAGAATATATATAGTATATATATT CTGTATATAGAATATATATACTATATTAATTC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0129	1	57	0.0175	481	c.409 others(500): Show c.409+15133_409+15134insGAATTAATATAGTATATATATTCTAT ATACAGAATATATATACTATATATATTCTATATACAGAATATATATACTA TATATATTCTATATACAGAATATATATACTATATATATATTCTATATATA GAATATATATACTATATATATTCTGTATATAGAATATATATAGTATATAT ATTCTGTATACAGAATATATATACTATATATATTCTGTATATAGAATATA TATACTATATATTCTGTATACAGAATATATATACTATATATATTCTGTAT ATAGAATATATATACTATATATATTCTGTATATAGAATATATATAGTATA TATATTCTGTATATAGAATATATATACTATATATATTCTGTATATAGAAT ATATATACTATATATATTCTGTATATAGAATATATATACTATATATATTC TGTATATAGAATATATATACTATATATATTCTGTATATAGAATATATATA CTATA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(474): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGGAGGAG GAGGGGGAGGAGGAGGGGAGGAGGAGGGGAGGAGGGGGGAGGGGGAGGGG GGGGAGGAGGAGGGGGGGGGGGAGGAGGGGGGGAGGGGGTGGGAGGAGGA GGGGGGGGAGGAGGGGGGGGAGGGGGAGGGGGAGGGGGGGAGGGGGAGGG GGAGGAGGGGGAGGGGAGGAGGAGGGGAGGAGGAGGAGGGGGAGGAGGGA GGGGGAGGAGGAGGGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGGGAGG AGGAGGAGGGGAGGGAGGAGGAGGGAGGAGGGGAGGAGGAGGAGGGGGGA GGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGA	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0011 a0001c0001t0013g0011	1	183	0.0055	481	c.125 others(502): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCTCCCCTCCT CCTCCTCCTCCCCCCTCCTCCTCCTCCCCTCCTCCCTCCTCCTCCCTCCC CTCCTCCTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCCTCCT CCTCCCCCTCCCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCTCCCCTCCC CCTCCTCCCCCTCCCCCTCCCCCCCTCCCCCTCCCCCTCCCCCCCCTCCT CCCCCCCCTCCTCCTCCCACCCCCTCCCCCCCTCCTCCCCCCCCCCCTCC TCCTCCCCCCCCTCCCCCTCCCCCCTCCTCCCCTCCTCCTCCCCTCCTCC TCCCCCTCCTCCTCCCCCCTCCTCCTCCCCTTCTCCTCCCCTTTCTGCTC CCTTCCCCTTCTCCTCCCCCTTCTCCTCCTCCTCCTCCTCCCCCTCCTCC ACCTCCCCCTCCTCTCCTTCCCCTCTTCACCTTCTCCCCTCCCCTCCCCT CCTCCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
ANKLE2_chr12_132720503_132766832	132759203	C C	CGCTGCGG others(474): Show CGCTGCGGAGTGGCATCCTGGGGCACCCACGTGGCAGAGTGGATCGCTGC GGAGTGGCACCCCAGGGCACCCACATGGCAGAGTGGATTGCGCAGTGTGG CACCCCGGGGCACCCACGTGGCAGAGAGGATCGCTGCGGAGTGGCACCCC GGGGCACCCACGTGGCAGAGTGGATTGCGCAGTGTGGCACCCCGGGGCAC CCACGTGGCAGAGAGGATCGCTGCGGAGTGGCACCCCGGGGCACCCACGT GGCAGAGTGGATCGCTGCGGAGTGGCACCCCAGGGCACCCACATGGCAGA GTGGATTGCGCAGTGTGGCACCCCGGGGCACCCACGTGGCAGAGAGGATC GCTGCGGAGTGGCACCCCGGGGCACCCACGTGGCAGAGTGGATCGCTGCG GAGTGGCACCCCAGGGCACCCACATGGCAGAGTGGATTGCGCAGTGTGGC ACCCCGGGGCACCCACGTGGCAGAGAGGATCG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0142 a0003c0003t0001g0142	1	265	0.0038	481	c.181 others(498): Show c.181+2414_181+2415insCGATCCTCTCTGCCACGTGGGTGCCCCG GGGTGCCACACTGCGCAATCCACTCTGCCATGTGGGTGCCCTGGGGTGCC ACTCCGCAGCGATCCACTCTGCCACGTGGGTGCCCCGGGGTGCCACTCCG CAGCGATCCTCTCTGCCACGTGGGTGCCCCGGGGTGCCACACTGCGCAAT CCACTCTGCCATGTGGGTGCCCTGGGGTGCCACTCCGCAGCGATCCACTC TGCCACGTGGGTGCCCCGGGGTGCCACTCCGCAGCGATCCTCTCTGCCAC GTGGGTGCCCCGGGGTGCCACACTGCGCAATCCACTCTGCCACGTGGGTG CCCCGGGGTGCCACTCCGCAGCGATCCTCTCTGCCACGTGGGTGCCCCGG GGTGCCACACTGCGCAATCCACTCTGCCATGTGGGTGCCCTGGGGTGCCA CTCCGCAGCGATCCACTCTGCCACGTGGGTGCCCCAGGATGCCACTCCGC AGC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12			chr12	TogoVar
ANXA2_chr15_60342151_60402986	60349822	A A	AGGGAGGG others(474): Show AGGGAGGGGAAGGCAGGGAGGCAGGAGAAGGCAGGGAGGCAGGGGAAGGC AGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGA AGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAG GGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAG GGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAG GGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAG GCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGG GAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGC AGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGG AGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGC	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	331	0.0030	481	c.838 others(496): Show c.838-626_838-625insGCCTTCCCCTCCCTCCCTGCCTTCCCCTGC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCC CTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCT CCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCC CTGCCTTCCCCTGCCTCCCTGCCTTCTCCTGCCTCCCTGCCTTCCCCTCC C	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ARHGEF16_chr1_3449665_3486113	3477303	G G	GTCACCCC others(474): Show GTCACCCCCACACTACCCACCCCCCATCACCCCACAACCCACCCCCATCA CCCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCCATCACCC CCACACTACCCACCCCCATCACCCCACACTACCCACCCCATCACCCCCAC ACTACCCACCCCCATCACCCTCACTACCCATCACCCGCACACTACCCACC CCATCACCCGCACACTACCCACCCCATCACCCGCACACTACCCAGGCCCA TCACCCCGCTACCCACCCCATCACCCCCACACTACCCACCCCATCACCCC CACGCCACCCACCCCATCACCCCCACGCCGCCCCACCCCCATCACCCCCA CGCCACCCACCCCATCACCCCCACGCCGCCCCACCCCCATCACCCCCACG CCGCCCACCCCCATCACCCCCACGCCGCCCACCCCATCACCCCCACGCCG CCCACCCCATCACCCCCACGCCGCCCACCCCA	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0078 a0003c0004t0002g0078	1	50	0.0200	481	c.147 others(498): Show c.1474-550_1474-549insCCATCACCCCACAACCCACCCCCATCAC CCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCCATCACCCC CACACTACCCACCCCCATCACCCCACACTACCCACCCCATCACCCCCACA CTACCCACCCCCATCACCCTCACTACCCATCACCCGCACACTACCCACCC CATCACCCGCACACTACCCACCCCATCACCCGCACACTACCCAGGCCCAT CACCCCGCTACCCACCCCATCACCCCCACACTACCCACCCCATCACCCCC ACGCCACCCACCCCATCACCCCCACGCCGCCCCACCCCCATCACCCCCAC GCCACCCACCCCATCACCCCCACGCCGCCCCACCCCCATCACCCCCACGC CGCCCACCCCCATCACCCCCACGCCGCCCACCCCATCACCCCCACGCCGC CCACCCCATCACCCCCACGCCGCCCACCCCATCACCCCCACACTACCCAC CCC	ARHGEF16	ENSG00000130762.15	transcript	ENST00000378378.9	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATG7_chr3_11267397_11562665	11487606	C C	CCCTCCCG others(474): Show CCCTCCCGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTC CCTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGC TGGGCAGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGTCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCC CTCACCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCA TCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCGCTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0251 a0001c0001t0002g0251	1	203	0.0049	481	c.207 others(502): Show c.2079+60692_2079+60693insGGCGGATGGCTGGGCGGGGGGCTG ACACCCCCACCTCCCTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCTGGGCAGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCAGAGGGTCTCCTCACTTCCCAGTAGGGGCGGCTG GGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGG GCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGG GCTCCTCGCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCC CGGACGG	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
C2CD4C_chr19_400445_414147	411244	A A	ATCCTTGG others(474): Show ATCCTTGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCT GTCCACCGCCCCTGCTGGGAACGGATCCTGGGGGTCTGTCCACCGCCCCT GCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGAT CCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGT CCACCGCCCCTGCTGGGAACGGATCCTGGGGGTCTGTCCACCGTCTCTGC TGGGCCCGGATCCTTGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCC TGGGGGTCTGTCCACCGCCCCTGCTGGGAACGGATCCTGGGGGTCTGTCC ACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTG GGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTG GGGGTCTGTCCACCGCCCCTGCTGGGCACGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0156 a0001c0001t0050g0156	1	309	0.0032	481	c.-22 others(492): Show c.-2280_-2279insCCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCA GGATCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCA GCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGG ACAGACCCCCAGGATCCGTTCCCAGCAGGGGCGGTGGACAGACCCCCAGG ATCCGTGCCCAGCAGGGGCGGTGGACAGACCCCAAGGATCCGGGCCCAGC AGAGACGGTGGACAGACCCCCAGGATCCGTTCCCAGCAGGGGCGGTGGAC AGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGAT CCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAG GGGCGGTGGACAGACCCCCAGGATCCGTTCCCAGCAGGGGCGGTGGACAG ACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGACCCCAAGGA	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		2098		chr19	TogoVar
C2CD4C_chr19_400445_414147	411304	T T	TCTGCTGG others(474): Show TCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCG GATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCACGGATCCTGGGGGTC TGTCCACCACCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCCC TGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGA TCCTGGGGGTCTGTCCACCGTCCCTGCTGGGCCCGGATCCTGGGGGTCTG TCCACCGTCTCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCACTG CTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATC CTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGATCCTGGGGGTCTGTC CACCACCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCTCTGCT GGGCCTGGATCCTTGGGGTCTGTCCACCACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0125 a0001c0001t0125	a0001c0001t0125g0100 a0001c0001t0125g0100	1	108	0.0093	481	c.-23 others(492): Show c.-2340_-2339insGGGTGGTGGACAGACCCCAAGGATCCAGGCCCAG CAGAGACGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGTGGTGGA CAGACCCCCAGGATCCGGGCCCAGCAGAGACGGTGGACAGACCCCCAGGA TCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCA GTGACGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGAGACGGTGGACA GACCCCCAGGATCCGGGCCCAGCAGGGACGGTGGACAGACCCCCAGGATC CGGGCCCAGCAGAGACGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGG GACGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGTGGTGGACAGA CCCCCAGGATCCGTGCCCAGCAGAGACGGTGGACAGACCCCCAGGATCCG GGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		2158		chr19	TogoVar
CALCOCO2_chr17_48826035_48870245	48858046	A A	ATAGAATA others(474): Show ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAAGAATAG	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0291 a0001c0001t0006g0291	1	62	0.0161	481	c.100 others(500): Show c.1008+1859_1008+1860insTAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAG AATAG	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	10/12			chr17	TogoVar

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