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
ASAP1_chr8_130047104_130448674	130049877	GGGGGAAC others(117): Show GGGGGAACACATGGGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAACA CATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAATACATGGGGGG CAGAGGAGAACACATGGGGGGCAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG01175.hp1 HG01993.hp2 others(2): Show HG01168.hp1 HG01175.hp1 HG01993.hp2 HG03831.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0002 a0001c0001t0002 a0001c0004t0002	a0001c0001t0002g0187 a0001c0004t0002g0151 a0001c0004t0002g0157 others(2): Show a0001c0001t0002g0187 a0001c0004t0002g0151 a0001c0004t0002g0157 a0001c0004t0002g0182 a0001c0004t0002g0185	5	308	0.0162	-124	c.47 others(11): Show c.4730_*4853del	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2226		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050029	CACATGGG others(117): Show CACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACACATGGAG GGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGG GGAACACATGGGGGCAGAGGGGAAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 NA19043.hp2 HG03579.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0253 a0001c0001t0001g0254	2	308	0.0065	-124	c.45 others(11): Show c.4578_*4701del	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2074		chr8	TogoVar
ASMT_chrX_1610059_1648081	1624567	CCAGGCAG others(117): Show CCAGGCAGATGCTGGGAGGTGGGGGCTGCCCCCAGGCAGATGCTGGGAGG TGGTGGCTGCACCCAGGCAGATGCTGGGAGGTGGGGGCTGCCCCCAGGCA GATGCTGGGAGGTGGTGGCTGACCA	C C	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA18906.hp2 HG06807.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0144 a0001c0001t0002g0145	2	223	0.0090	-124	c.374 others(15): Show c.374+197_374+320del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASPSCR1_chr17_81972629_82022406	81987083	AAGAGCAA others(117): Show AAGAGCAAAGCGAAGCCACGGGCAGGGGTGAGCGGGACCCGAGGCAGGAG GTGACAGAGCCTAAGAGCAAAGCGAAGCCACGGGCAGGGGTGAGCGGGAC CCGAGGCAGGAGATGACGGAGCCTG	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02451.hp2 HG02647.hp2 others(7): Show HG01074.hp2 HG02451.hp2 HG02647.hp2 HG02970.hp2 HG03453.hp2 HG03471.hp1 HG03516.hp2 NA18906.hp1 NA19043.hp1 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0004 a0001c0017 a0004c0015 a0001c0004 a0001c0017 a0004c0015	a0001c0004t0001 a0001c0017t0001 a0004c0015t0001 a0001c0004t0001 a0001c0017t0001 a0004c0015t0001	a0001c0004t0001g0170 a0001c0004t0001g0171 a0001c0004t0001g0172 others(6): Show a0001c0004t0001g0170 a0001c0004t0001g0171 a0001c0004t0001g0172 a0001c0004t0001g0173 a0001c0004t0001g0174 a0001c0004t0001g0175 a0001c0004t0001g0176 a0001c0017t0001g0169 a0004c0015t0001g0023	10	366	0.0273	-124	c.374 others(17): Show c.374+1519_374+1642del	ASPSCR1	ENSG00000169696.16	transcript	ENST00000306739.9	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr17	TogoVar
ATP9B_chr18_79064394_79383283	79172339	GCGATCCG others(117): Show GCGATCCGCCTTGGCCTCCCAAGGTGCTGTGATTACAGGCGTAGCCACCG TGCCCCGCCCTTGCGATCCGCCTTGGCCTCCCAAGGTGCTGTGATTACAG GCGTAGCCACCGTGCCCCGCCCTTC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00673.hp2 HG01106.hp1 others(71): Show HG00280.hp1 HG00673.hp2 HG01106.hp1 HG01106.hp2 HG01243.hp1 HG01261.hp1 HG01358.hp1 HG01884.hp1 HG01891.hp1 HG01981.hp2 HG02015.hp2 HG02040.hp2 HG02056.hp2 HG02074.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02293.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03471.hp2 HG03486.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03927.hp1 NA18522.hp1 NA18940.hp1 NA18946.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18961.hp2 NA18962.hp2 NA18979.hp2 NA18982.hp2 NA18984.hp1 NA18994.hp1 NA19002.hp2 NA19007.hp1 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19079.hp1 NA19085.hp2 NA19086.hp1 NA19088.hp2 NA20129.hp1 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0015 a0016	a0001c0001 a0001c0003 a0001c0004 others(13): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0010 a0001c0011 a0001c0014 a0001c0015 a0001c0017 a0001c0037 a0002c0018 a0003c0007 a0003c0020 a0003c0021 a0015c0028 a0016c0027	a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 others(23): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0011 a0001c0003t0013 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0006t0003 a0001c0006t0004 a0001c0006t0007 a0001c0010t0001 a0001c0010t0004 a0001c0011t0006 a0001c0014t0006 a0001c0015t0001 a0001c0017t0004 a0001c0037t0003 a0002c0018t0002 a0003c0007t0004 a0003c0020t0004 a0003c0021t0004 a0015c0028t0012 a0016c0027t0003	a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0140 others(71): Show a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0003t0001g0136 a0001c0003t0001g0137 a0001c0003t0002g0135 a0001c0003t0002g0149 a0001c0003t0003g0112 a0001c0003t0003g0115 a0001c0003t0003g0121 a0001c0003t0003g0122 a0001c0003t0003g0123 a0001c0003t0003g0124 a0001c0003t0003g0125 a0001c0003t0003g0126 a0001c0003t0003g0127 a0001c0003t0003g0128 a0001c0003t0003g0131 a0001c0003t0003g0133 a0001c0003t0003g0138 a0001c0003t0003g0142 a0001c0003t0003g0143 a0001c0003t0003g0145 a0001c0003t0003g0146 a0001c0003t0003g0147 a0001c0003t0003g0150 a0001c0003t0003g0151 a0001c0003t0003g0152 a0001c0003t0003g0153 a0001c0003t0011g0134 a0001c0003t0013g0148 a0001c0004t0001g0154 a0001c0004t0002g0109 a0001c0004t0003g0094 a0001c0004t0003g0101 a0001c0004t0003g0102 a0001c0004t0003g0103 a0001c0004t0003g0110 a0001c0004t0003g0113 a0001c0004t0003g0120 a0001c0004t0004g0117 a0001c0004t0004g0119 a0001c0006t0003g0281 a0001c0006t0004g0291 a0001c0006t0004g0292 a0001c0006t0004g0293 a0001c0006t0004g0294 a0001c0006t0007g0285 a0001c0006t0007g0286 a0001c0006t0007g0290 a0001c0010t0001g0296 a0001c0010t0004g0295 a0001c0010t0004g0297 a0001c0011t0006g0105 a0001c0011t0006g0106 a0001c0011t0006g0107 a0001c0014t0006g0093 a0001c0015t0001g0130 a0001c0015t0001g0132 a0001c0017t0004g0099 a0001c0037t0003g0104 a0002c0018t0002g0114 a0003c0007t0004g0278 a0003c0007t0004g0279 a0003c0007t0004g0280 a0003c0007t0004g0282 a0003c0007t0004g0283 a0003c0007t0004g0287 a0003c0007t0004g0288 a0003c0020t0004g0289 a0003c0021t0004g0284 a0015c0028t0012g0144 a0016c0027t0003g0139	74	298	0.2483	-124	c.779 others(17): Show c.779-4432_779-4309del	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	7/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79336043	ATGCCCTC others(117): Show ATGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCACCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCC CCAGCACCGCCGTGTGCACCCTCTG	A A	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0210 a0002c0002t0002g0210	1	298	0.0034	-124	c.202 others(17): Show c.2029-565_2029-442del	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79357258	TCTGTGTG others(117): Show TCTGTGTGAGGGGTGTCCTGGGTCTGGAGGTGTCCGTGTGAGGGACCCTG TGTGAGGGGTGCTCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGCCCTGGG TCTGGAGGTGTCCGTGTGAGGGACC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00639.hp2 others(64): Show HG00280.hp1 HG00408.hp2 HG00639.hp2 HG01106.hp1 HG01106.hp2 HG01168.hp2 HG01169.hp2 HG01261.hp1 HG01496.hp1 HG01884.hp1 HG01934.hp1 HG01952.hp1 HG01981.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02129.hp1 HG02132.hp1 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02698.hp2 HG02738.hp1 HG02818.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp1 HG03579.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG06807.hp1 NA18940.hp1 NA18946.hp1 NA18950.hp2 NA18952.hp1 NA18955.hp2 NA18962.hp2 NA18971.hp1 NA18979.hp2 NA18982.hp2 NA18994.hp1 NA19002.hp2 NA19007.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19056.hp2 NA19074.hp1 NA19079.hp1 NA19085.hp2 NA19086.hp1 NA21309.hp1	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0015 a0016	a0001c0003 a0001c0004 a0001c0006 others(7): Show a0001c0003 a0001c0004 a0001c0006 a0001c0013 a0001c0024 a0001c0037 a0002c0002 a0006c0012 a0015c0028 a0016c0027	a0001c0003t0003 a0001c0003t0011 a0001c0003t0013 others(15): Show a0001c0003t0003 a0001c0003t0011 a0001c0003t0013 a0001c0004t0001 a0001c0004t0003 a0001c0004t0004 a0001c0006t0003 a0001c0006t0004 a0001c0013t0004 a0001c0024t0004 a0001c0037t0003 a0002c0002t0003 a0002c0002t0004 a0002c0002t0009 a0002c0002t0014 a0006c0012t0003 a0015c0028t0012 a0016c0027t0003	a0001c0003t0003g0112 a0001c0003t0003g0115 a0001c0003t0003g0121 others(64): Show a0001c0003t0003g0112 a0001c0003t0003g0115 a0001c0003t0003g0121 a0001c0003t0003g0122 a0001c0003t0003g0123 a0001c0003t0003g0124 a0001c0003t0003g0125 a0001c0003t0003g0126 a0001c0003t0003g0127 a0001c0003t0003g0128 a0001c0003t0003g0129 a0001c0003t0003g0131 a0001c0003t0003g0133 a0001c0003t0003g0138 a0001c0003t0003g0142 a0001c0003t0003g0143 a0001c0003t0003g0145 a0001c0003t0003g0146 a0001c0003t0003g0147 a0001c0003t0003g0150 a0001c0003t0003g0151 a0001c0003t0003g0152 a0001c0003t0003g0153 a0001c0003t0011g0134 a0001c0003t0013g0148 a0001c0004t0001g0016 a0001c0004t0003g0034 a0001c0004t0003g0041 a0001c0004t0003g0056 a0001c0004t0003g0060 a0001c0004t0003g0061 a0001c0004t0003g0073 a0001c0004t0003g0092 a0001c0004t0003g0094 a0001c0004t0003g0098 a0001c0004t0003g0101 a0001c0004t0003g0102 a0001c0004t0003g0103 a0001c0004t0003g0110 a0001c0004t0003g0113 a0001c0004t0003g0120 a0001c0004t0004g0117 a0001c0004t0004g0119 a0001c0006t0003g0267 a0001c0006t0003g0268 a0001c0006t0003g0281 a0001c0006t0004g0273 a0001c0006t0004g0291 a0001c0006t0004g0292 a0001c0006t0004g0293 a0001c0006t0004g0294 a0001c0013t0004g0108 a0001c0013t0004g0111 a0001c0024t0004g0058 a0001c0037t0003g0104 a0002c0002t0003g0198 a0002c0002t0003g0204 a0002c0002t0004g0253 a0002c0002t0004g0258 a0002c0002t0009g0177 a0002c0002t0009g0255 a0002c0002t0014g0187 a0006c0012t0003g0203 a0006c0012t0003g0221 a0006c0012t0003g0222 a0015c0028t0012g0144 a0016c0027t0003g0139	67	298	0.2248	-124	c.290 others(19): Show c.2904-2062_2904-1939del	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79357476	CCTGGGTC others(117): Show CCTGGGTCTGGAGGTGTCCGTGTGAGGGACCCTGTGTGAGGGGTGCCCTG GGTCTGGAGGTGTCTGTGTGAGGGGTGTCCTGGGTCTGGAGGTGTCCGTG TGAGGGACCCTGTGTGAGGGATGCT	C C	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA19088.hp2 NA18948.hp2 NA19088.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0136 a0001c0003t0001g0137 a0001c0003t0001g0136 a0001c0003t0001g0137	2	298	0.0067	-124	c.290 others(19): Show c.2904-1860_2904-1737del	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79357834	CCTGGGTC others(117): Show CCTGGGTCTGGAGGTGTCCGTGTGAGGGACCCTGTGTGAGGGGTGCTCTG GGTCTGGAGGTGTCTGTGTGAGGGGTGTCCTGGGTCTGGAGGTGTCCGTG TGAGGGACCCTGTGTGAGGGATGCT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 NA18612.hp2 NA18949.hp1 others(5): Show HG01261.hp2 NA18612.hp2 NA18949.hp1 NA18952.hp2 NA18977.hp2 NA18990.hp2 NA19070.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0043 a0001c0001t0001g0046 others(5): Show a0001c0001t0001g0004 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0054 a0001c0001t0001g0081 a0001c0001t0001g0087 a0001c0001t0001g0088	8	298	0.0269	-124	c.290 others(19): Show c.2904-1478_2904-1355del	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
B3GNTL1_chr17_82937149_83056770	83025473	GTCCACAC others(117): Show GTCCACACACGGACACCGCGGAGAGTCCACACACACATAGAAACTGTGAA GTCCACACACACACGGACACCGCGGAGTCCACACACGGACACCGCGGAGA GTCCACACACACATAGAAACTGTGA	G G	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03579.hp2 NA18906.hp2 HG03041.hp1 HG03579.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0186 a0001c0002t0001g0089 a0001c0002t0001g0114 a0001c0001t0001g0186 a0001c0002t0001g0089 a0001c0002t0001g0114	3	266	0.0113	-124	c.297 others(17): Show c.297+9438_297+9561del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
B4GALNT4_chr11_364499_387117	375001	GAGGGAGG others(117): Show GAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGTGGAAGGGAGGGAGGAGGA AGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGA GGGAGGAGGAAGGGAGGGAGGAGGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG03492.hp1 HG03688.hp2 others(1): Show HG00099.hp1 HG03492.hp1 HG03688.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0077 a0001c0001t0001g0078 others(1): Show a0001c0001t0001g0062 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079	4	184	0.0217	-124	c.784 others(15): Show c.784-433_784-310del	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BANP_chr16_87946434_88082316	88009788	ATTGAAAG others(117): Show ATTGAAAGCAGGGAACAGTAGACTATGTCTCATTAGAATAAGAAGGACAG TAGCTCCTGACTGTTGAAAGCAGTGAACAGTAGACTGTGTCTCATTAGAA TAAGAGGGACTGTAGCTCCTGACTG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03041.hp2 HG02630.hp2 HG03041.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0092 a0001c0014t0001g0095 a0001c0014t0001g0092 a0001c0014t0001g0095	2	352	0.0057	-124	c.655 others(17): Show c.655+3533_655+3656del	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
BCAS1_chr20_53938541_54075594	54072764	GATCAGCT others(117): Show GATCAGCTGGTGTAGTCAGGAGTGGTGATGAAGGATCTGGCAAACTGTAG ATCATCACCAAGGATCAGCTGGTGTAGTCAGGAGTGGTGATGAAGGGTCT GGCAAACTGTAGACCATCATCAAGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0019 a0004c0004t0019	a0004c0004t0019g0192 a0004c0004t0019g0192	1	364	0.0028	-124	c.-24 others(11): Show c.-2461_-2338del	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding		2171		chr20	TogoVar
BRSK2_chr11_1384934_1467689	1438059	TCCCCCAC others(117): Show TCCCCCACAGCTGGCACCAAAGGCCCCTGCGTCCCCCACAGCTGGCACCA AAGGCCCCTGCGTCCCCCACAGCTGGCACCAAAGGCCCCTGCGTCCCCCA CAGCTGGCACCAAAGGCCCCTGCGA	T T	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0289 a0002c0005t0005g0289	1	360	0.0028	-124	c.187 others(14): Show c.187-216_187-93del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
C20orf204_chr20_64031182_64044001	64042894	GCGGGGGT others(117): Show GCGGGGGTCGTGGGGGACGGGACGGGGGTCGTGGGGGACGGGGCGGGGTC GTGGGGGACGGGACGGGGGTCGTGGGAGACGGGACGGGGGTCGTGGGGGA CGGGGCGGGGTCGTGGGGGACGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	392	0.0026	-124	c.41 others(11): Show c.4136_*4259del	C20orf204	ENSG00000196421.9	transcript	ENST00000636176.2	protein_coding		3894		chr20	TogoVar
C2orf69_chr2_199906293_199933273	199913184	TATATATA others(117): Show TATATATATTATATATAATATATAATATATTATATATAATATATATTATA ATATATATAATATATATTATATAAAATATATTCTATAGAATATATATTCT ATTATATAATATATATTCTATTATA	T T	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0227 a0001c0001t0027g0227	1	412	0.0024	-124	c.333 others(17): Show c.333+1437_333+1560del	C2orf69	ENSG00000178074.6	transcript	ENST00000319974.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
C7_chr5_40904497_40989643	40964453	AATAATTT others(117): Show AATAATTTTAATAGAATGTAATTTTAGTAGAATGCTTAGTATAGTCCTTG GTATTTTGGGAGCAATCAATACATTATAGACAGTGGTATTAATAGTTTTA TTTCAATTAATGGTGGTGCTAGTGT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01070.hp2 HG01346.hp2 others(2): Show HG00280.hp2 HG01070.hp2 HG01346.hp2 HG01496.hp1 HG02615.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0003 a0002c0002t0002 a0002c0002t0003	a0002c0002t0002g0087 a0002c0002t0002g0117 a0002c0002t0003g0077 others(2): Show a0002c0002t0002g0087 a0002c0002t0002g0117 a0002c0002t0003g0077 a0002c0002t0003g0078 a0002c0002t0003g0199	5	380	0.0132	-124	c.175 others(17): Show c.1750-287_1750-164del	C7	ENSG00000112936.21	transcript	ENST00000313164.10	protein_coding	13/17			chr5	TogoVar
CADM2_chr3_84953989_86079429	85769068	CATATATA others(117): Show CATATATACATATATAGTATATATACACATATATACATATATGTATATAT ACACATATATACATATATAGTATATATACACATATATACATATATAGTAT ATATACACATATATACATATATAGT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02486.hp2 HG03209.hp1 HG01884.hp2 HG02486.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0040 a0001c0001t0002 a0001c0001t0015 a0001c0001t0040	a0001c0001t0002g0138 a0001c0001t0015g0076 a0001c0001t0040g0024 a0001c0001t0002g0138 a0001c0001t0015g0076 a0001c0001t0040g0024	3	146	0.0206	-124	c.89- others(17): Show c.89-32969_89-32846del	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CAMK1D_chr10_12344547_12840545	12623179	CCCTCCGT others(117): Show CCCTCCGTCCCTCCGTCCCTCCCTCCTTTCTTTCCTCCCTCCCTCCCTCC CTCCCTTCCTCCCTTCCTTCCTCCCTCCTTTCTTTCCTTCCTCCCTCCCT TCCTTCCTCCCTCCTTTCTTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02630.hp1 NA18522.hp2 others(1): Show HG01884.hp2 HG02630.hp1 NA18522.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0019 a0001c0001t0098 a0001c0002t0025 a0001c0001t0019 a0001c0001t0098 a0001c0002t0025	a0001c0001t0019g0084 a0001c0001t0098g0037 a0001c0002t0025g0029 others(1): Show a0001c0001t0019g0084 a0001c0001t0098g0037 a0001c0002t0025g0029 a0001c0002t0025g0146	4	214	0.0187	-124	c.225 others(19): Show c.225-43551_225-43428del	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMKK2_chr12_121232692_121301709	121301118	TTTTTTTT others(117): Show TTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTTGCTGCCTGGTCTCAC AGTTGCAATTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTTG CTGCCTGGTCTCACAGTTGCAATTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0139 a0002c0002t0002g0139	1	330	0.0030	-124	c.-46 others(11): Show c.-4664_-4541del	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding		4410		chr12	TogoVar
CAMSAP2_chr1_200733893_200865704	200816764	ACACACAC others(117): Show ACACACACACGCGTGTATATATGTGTGTACACACACACGCGTGTATATAT GTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGTGT ATGTGTGTACACACACACGCGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02723.hp2 HG02896.hp1 HG02451.hp2 HG02723.hp2 HG02896.hp1	a0004 a0004	a0004c0005 a0004c0006 a0004c0005 a0004c0006	a0004c0005t0014 a0004c0006t0016 a0004c0005t0014 a0004c0006t0016	a0004c0005t0014g0023 a0004c0005t0014g0024 a0004c0006t0016g0005 a0004c0005t0014g0023 a0004c0005t0014g0024 a0004c0006t0016g0005	3	366	0.0082	-124	c.645 others(17): Show c.645+1121_645+1244del	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16			chr1	TogoVar
CASZ1_chr1_10631604_10801646	10744607	TGGGCACC others(117): Show TGGGCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTG GGCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGG CACCACGAGCAGGCATGTCCTGGGC	T T	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01981.hp1 HG02615.hp2 others(7): Show HG01258.hp2 HG01981.hp1 HG02615.hp2 HG02630.hp1 HG02897.hp1 HG02965.hp2 HG03669.hp1 NA18966.hp1 NA18983.hp1 NA18999.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0003c0006 a0004c0005	a0001c0001t0001 a0001c0001t0014 a0001c0001t0050 others(4): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0050 a0001c0002t0002 a0001c0003t0046 a0003c0006t0015 a0004c0005t0007	a0001c0001t0001g0077 a0001c0001t0001g0095 a0001c0001t0001g0098 others(7): Show a0001c0001t0001g0077 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0124 a0001c0001t0014g0224 a0001c0001t0050g0136 a0001c0002t0002g0161 a0001c0003t0046g0222 a0003c0006t0015g0220 a0004c0005t0007g0114	10	236	0.0424	-124	c.-77 others(19): Show c.-77+15970_-77+16093del	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	2/20			chr1	TogoVar
CCDC88A_chr2_55282842_55424856	55304075	AAGGCAGG others(117): Show AAGGCAGGAGGATCGCTTGAGCCCAGGCGTTCAAGACCAGCCTGGGCAAC AGAGCGAGAACCCATCCCTACAAAAAATTAGCCATGTGTGGTGAGCACCT GTAGTCCTAGCTGTTCTGGAGGGTG	A A	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0006 a0008c0011t0006	a0008c0011t0006g0010 a0008c0011t0006g0010	1	316	0.0032	-124	c.438 others(18): Show c.4388-1047_4388-924del	CCDC88A	ENSG00000115355.18	transcript	ENST00000436346.7	protein_coding	25/32			chr2	TogoVar
CDH4_chr20_61247261_61945617	61783886	TCCCAGTT others(117): Show TCCCAGTTCCTTGGGACAGTTCTCAAGGCCCTCCGATATCCTGTGCCCCC AGGAGAATGTAAGCCCAGTTCCTCGGGACAGTTCTCGAGGCCCTCAGGTG TCTTGTGCCCCCAGGAGAATGTAAG	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0009 a0001c0010t0009	a0001c0010t0009g0045 a0001c0010t0009g0045	1	106	0.0094	-124	c.576 others(19): Show c.576+10728_576+10851del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61784253	AATGTAAG others(117): Show AATGTAAGCCCAGTTCCTTGGGACAGTTCTCGAGGCCCTCAGGTGTCTTG TGCCCCCAAGAGAAATGTAATCCCAGTTCCTCGGGACAGTTCTCAAGGCC CTCCGATATCCTGTGCCCCCAGGAG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03209.hp2 NA19030.hp1 HG02622.hp1 HG03209.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0006 a0001c0001t0001g0030 a0001c0001t0009g0019 a0001c0001t0001g0006 a0001c0001t0001g0030 a0001c0001t0009g0019	3	106	0.0283	-124	c.576 others(19): Show c.576+11073_576+11196del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH7_chr18_65746012_65895337	65782016	CTCTCTCT others(117): Show CTCTCTCTTTCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTT CTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA18522.hp1 HG02630.hp1 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0017 a0002c0018 a0001c0017 a0002c0018	a0001c0017t0005 a0002c0018t0093 a0001c0017t0005 a0002c0018t0093	a0001c0017t0005g0207 a0002c0018t0093g0208 a0001c0017t0005g0207 a0002c0018t0093g0208	2	208	0.0096	-124	c.210 others(19): Show c.210+18968_210+19091del	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CELSR1_chr22_46356174_46542620	46374745	TCCGCACA others(117): Show TCCGCACACTTCTCAGAGCCTTCCCAGACCAATGCGCGGATGAGAACGTG CCCATTGCGGGGATGCGCCCGGCTGCGGATGTGAAGAAACCCCTCCGCAG GAGCAGCGACCCTGCCATATGGGCC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0020 a0020	a0020c0011 a0020c0011	a0020c0011t0002 a0020c0011t0002	a0020c0011t0002g0011 a0020c0011t0002g0011	1	104	0.0096	-124	c.758 others(19): Show c.7585-1812_7585-1689del	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	24/34			chr22	TogoVar
CENPVL3_chrX_51612020_51623912	51621566	CTTCTTCT others(117): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02145.hp1 HG02622.hp1 others(5): Show HG01884.hp2 HG02145.hp1 HG02622.hp1 HG02896.hp1 HG02897.hp2 HG03453.hp2 NA18959.hp1 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0002 a0003c0003t0001 a0001c0001t0001 a0002c0002t0002 a0003c0003t0001	a0001c0001t0001g0000 a0002c0002t0002g0000 a0003c0003t0001g0000 a0001c0001t0001g0000 a0002c0002t0002g0000 a0003c0003t0001g0000	8	298	0.0269	-124	c.-28 others(11): Show c.-2817_-2694del	CENPVL3	ENSG00000224109.4	transcript	ENST00000417339.4	protein_coding		2655		chrX	TogoVar
CLN8_chr8_1758789_1791570	1763474	CCCCCGCC others(117): Show CCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCG CCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCC GCCCCCCGCCGCGCCCCGCCCCCCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0029 a0001c0001t0062g0029	1	413	0.0024	-124	c.-53 others(9): Show c.-534_-411del	CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding		314		chr8	TogoVar
CNGA1_chr4_47930977_48021681	47976157	ATATATAT others(117): Show ATATATATATATATACACATACATATATATATACATATATATGTATATAT ATATATACACATACATATATATATACATATATATGTATATATATATACAC ATACATATATATATACATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG01071.hp1 others(77): Show HG00408.hp1 HG00558.hp1 HG01071.hp1 HG01109.hp2 HG01255.hp1 HG01346.hp2 HG01884.hp1 HG01928.hp2 HG01943.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02109.hp1 HG02129.hp1 HG02148.hp2 HG02257.hp2 HG02273.hp2 HG02451.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp2 HG02818.hp2 HG02965.hp2 HG02970.hp2 HG03130.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03834.hp1 HG03927.hp2 HG04184.hp2 HG04199.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18945.hp1 NA18947.hp1 NA18952.hp2 NA18954.hp1 NA18957.hp1 NA18962.hp2 NA18963.hp1 NA18965.hp2 NA18973.hp2 NA18974.hp2 NA18982.hp1 NA18985.hp1 NA18986.hp2 NA18987.hp1 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18994.hp1 NA19005.hp2 NA19009.hp1 NA19011.hp1 NA19030.hp1 NA19055.hp1 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19065.hp1 NA19066.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19087.hp2 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0011 a0002c0002t0001 others(4): Show a0001c0001t0002 a0001c0001t0011 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0010	a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 others(75): Show a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0011g0151 a0002c0002t0001g0249 a0002c0002t0002g0007 a0002c0002t0002g0008 a0002c0002t0002g0113 a0002c0002t0002g0117 a0002c0002t0002g0123 a0002c0002t0002g0124 a0002c0002t0002g0126 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0002g0131 a0002c0002t0002g0132 a0002c0002t0002g0133 a0002c0002t0002g0135 a0002c0002t0002g0138 a0002c0002t0002g0139 a0002c0002t0002g0141 a0002c0002t0002g0142 a0002c0002t0002g0143 a0002c0002t0002g0144 a0002c0002t0002g0145 a0002c0002t0002g0152 a0002c0002t0002g0153 a0002c0002t0002g0154 a0002c0002t0002g0155 a0002c0002t0002g0158 a0002c0002t0002g0159 a0002c0002t0002g0160 a0002c0002t0002g0164 a0002c0002t0002g0165 a0002c0002t0002g0166 a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0002g0173 a0002c0002t0002g0175 a0002c0002t0002g0177 a0002c0002t0002g0180 a0002c0002t0002g0181 a0002c0002t0002g0182 a0002c0002t0002g0183 a0002c0002t0002g0184 a0002c0002t0002g0185 a0002c0002t0002g0186 a0002c0002t0002g0187 a0002c0002t0002g0189 a0002c0002t0002g0191 a0002c0002t0002g0193 a0002c0002t0002g0194 a0002c0002t0002g0195 a0002c0002t0002g0197 a0002c0002t0002g0198 a0002c0002t0002g0199 a0002c0002t0002g0201 a0002c0002t0002g0202 a0002c0002t0003g0073 a0002c0002t0007g0094 a0002c0002t0007g0095 a0002c0002t0007g0096 a0002c0002t0010g0178	80	366	0.2186	-124	c.-15 others(17): Show c.-15+5112_-15+5235del	CNGA1	ENSG00000198515.16	transcript	ENST00000514170.7	protein_coding	3/10			chr4	TogoVar
CNN1_chr19_11533851_11555323	11538095	CCCCATCT others(117): Show CCCCATCTCTAAAAAAATAAAATAAAATTAGCCAGGTTGGTGGCACAAGT CTGCAATTCTAACTACTTGGATGGGCTGAGATGGGAGGATCACTTGAGCC TGGGAGGTCAAGGCTGCAGTGAGCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	392	0.0026	-124	c.-83 others(9): Show c.-832_-709del	CNN1	ENSG00000130176.8	transcript	ENST00000252456.7	protein_coding		755		chr19	TogoVar
CNTNAP3B_chr9_41885536_42134426	42118830	TCAAAATC others(117): Show TCAAAATCAAGATTTTGTATCTTGATTTGATACAAAATCAAGATTTTGTA TCTTGATTTGATACAAAATCAAGATTTTGTATCTTGATTTGATACAAAAT CAAGATTTTGTATCTTGATTTGATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp2 HG00735.hp1 others(32): Show HG00099.hp2 HG00642.hp2 HG00735.hp1 HG01071.hp2 HG01081.hp2 HG01106.hp1 HG01175.hp1 HG01255.hp1 HG01516.hp2 HG01943.hp2 HG01952.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02083.hp1 HG02109.hp1 HG02135.hp1 HG02145.hp2 HG02273.hp2 HG02486.hp2 HG02622.hp2 HG02738.hp2 HG03239.hp1 HG03490.hp2 HG03669.hp2 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03942.hp2 NA18947.hp1 NA18949.hp2 NA18968.hp1 NA18974.hp1 NA19090.hp1 NA20905.hp2	a0001 a0002 a0006 others(9): Show a0001 a0002 a0006 a0007 a0008 a0010 a0011 a0017 a0019 a0024 a0029 a0031	a0001c0001 a0001c0012 a0001c0046 others(12): Show a0001c0001 a0001c0012 a0001c0046 a0002c0002 a0006c0007 a0006c0041 a0007c0008 a0008c0009 a0010c0013 a0011c0037 a0017c0045 a0019c0036 a0024c0025 a0029c0044 a0031c0035	a0001c0001t0002 a0001c0001t0003 a0001c0001t0017 others(16): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0017 a0001c0001t0018 a0001c0001t0031 a0001c0012t0002 a0001c0046t0016 a0002c0002t0024 a0006c0007t0011 a0006c0041t0002 a0007c0008t0009 a0008c0009t0023 a0010c0013t0003 a0011c0037t0007 a0017c0045t0002 a0019c0036t0007 a0024c0025t0019 a0029c0044t0009 a0031c0035t0007	a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0005 others(32): Show a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0011 a0001c0001t0002g0018 a0001c0001t0002g0022 a0001c0001t0003g0093 a0001c0001t0003g0095 a0001c0001t0003g0097 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0017g0012 a0001c0001t0018g0026 a0001c0001t0031g0098 a0001c0012t0002g0007 a0001c0012t0002g0009 a0001c0046t0016g0015 a0002c0002t0024g0061 a0006c0007t0011g0017 a0006c0007t0011g0021 a0006c0041t0002g0020 a0007c0008t0009g0105 a0007c0008t0009g0106 a0008c0009t0023g0039 a0010c0013t0003g0103 a0010c0013t0003g0108 a0011c0037t0007g0008 a0017c0045t0002g0019 a0019c0036t0007g0010 a0024c0025t0019g0028 a0029c0044t0009g0094 a0031c0035t0007g0023	35	108	0.3241	-124	c.85+ others(17): Show c.85+10056_85+10179del	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	1/23			chr9	TogoVar
COL6A2_chr21_46093112_46134801	46111586	GCCCAGGT others(117): Show GCCCAGGTGCCAGGGGTCGGGGGCCGGGGGCTCTGGGCATTTGGGGGGCA GTTGGGACCAGTACCCAGGTGCCAGGGGTCGGGGGCCGGGGGCTCTGGGC ATTTGGGGGGCAGTTGGGACCAGTA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG00639.hp2 others(91): Show HG00423.hp1 HG00544.hp2 HG00639.hp2 HG00673.hp1 HG00735.hp1 HG01074.hp2 HG01168.hp1 HG01169.hp1 HG01884.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG02015.hp2 HG02040.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02132.hp1 HG02165.hp1 HG02258.hp2 HG02630.hp1 HG02723.hp1 HG02922.hp2 HG02965.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03486.hp1 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03669.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp2 NA18747.hp2 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18979.hp1 NA18980.hp2 NA18981.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp2 NA18988.hp2 NA18989.hp2 NA18990.hp1 NA18998.hp1 NA19003.hp2 NA19005.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19079.hp2 NA19083.hp1 NA19084.hp2 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp2 NA19091.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(8): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0013 a0001c0014 a0001c0019 a0001c0022 a0001c0025 a0001c0026 a0001c0031	a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 others(12): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0010 a0001c0002t0012 a0001c0002t0013 a0001c0005t0001 a0001c0006t0008 a0001c0013t0002 a0001c0014t0002 a0001c0019t0002 a0001c0022t0006 a0001c0025t0002 a0001c0026t0006 a0001c0031t0002	a0001c0001t0001g0173 a0001c0001t0001g0188 a0001c0001t0001g0274 others(75): Show a0001c0001t0001g0173 a0001c0001t0001g0188 a0001c0001t0001g0274 a0001c0001t0001g0285 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0002t0002g0001 a0001c0002t0002g0003 a0001c0002t0002g0006 a0001c0002t0002g0015 a0001c0002t0002g0016 a0001c0002t0002g0017 a0001c0002t0002g0018 a0001c0002t0002g0019 a0001c0002t0002g0253 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0002g0283 a0001c0002t0002g0284 a0001c0002t0002g0286 a0001c0002t0002g0289 a0001c0002t0002g0290 a0001c0002t0002g0293 a0001c0002t0002g0296 a0001c0002t0002g0297 a0001c0002t0002g0298 a0001c0002t0002g0300 a0001c0002t0002g0301 a0001c0002t0002g0302 a0001c0002t0002g0306 a0001c0002t0002g0308 a0001c0002t0002g0309 a0001c0002t0002g0311 a0001c0002t0002g0315 a0001c0002t0002g0316 a0001c0002t0002g0317 a0001c0002t0002g0318 a0001c0002t0002g0319 a0001c0002t0002g0320 a0001c0002t0002g0322 a0001c0002t0002g0324 a0001c0002t0002g0326 a0001c0002t0002g0327 a0001c0002t0002g0331 a0001c0002t0002g0332 a0001c0002t0002g0333 a0001c0002t0005g0292 a0001c0002t0010g0294 a0001c0002t0010g0295 a0001c0002t0010g0325 a0001c0002t0012g0288 a0001c0002t0013g0291 a0001c0005t0001g0263 a0001c0005t0001g0329 a0001c0005t0001g0330 a0001c0006t0008g0303 a0001c0013t0002g0001 a0001c0013t0002g0275 a0001c0014t0002g0321 a0001c0014t0002g0323 a0001c0019t0002g0017 a0001c0022t0006g0050 a0001c0025t0002g0282 a0001c0026t0006g0049 a0001c0031t0002g0299	94	372	0.2527	-124	c.115 others(15): Show c.115+136_116-129del	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46137848	46111586	GCCCAGGT others(117): Show GCCCAGGTGCCAGGGGTCGGGGGCCGGGGGCTCTGGGCATTTGGGGGGCA GTTGGGACCAGTACCCAGGTGCCAGGGGTCGGGGGCCGGGGGCTCTGGGC ATTTGGGGGGCAGTTGGGACCAGTA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG00639.hp2 others(89): Show HG00423.hp1 HG00544.hp2 HG00639.hp2 HG00673.hp1 HG00735.hp1 HG01074.hp2 HG01168.hp1 HG01169.hp1 HG01884.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG02015.hp2 HG02040.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02132.hp1 HG02165.hp1 HG02258.hp2 HG02630.hp1 HG02723.hp1 HG02922.hp2 HG02965.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03486.hp1 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03669.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp2 NA18747.hp2 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp2 NA18988.hp2 NA18989.hp2 NA18990.hp1 NA18998.hp1 NA19003.hp2 NA19005.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19079.hp2 NA19083.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp2 NA19091.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(11): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0001c0015 a0001c0023 a0001c0024 a0001c0033 a0001c0035 a0001c0039 a0001c0042 a0001c0043 a0001c0045 a0001c0050	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(17): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0001c0002t0009 a0001c0002t0012 a0001c0002t0013 a0001c0002t0014 a0001c0006t0001 a0001c0007t0001 a0001c0015t0002 a0001c0023t0001 a0001c0024t0002 a0001c0033t0002 a0001c0035t0001 a0001c0039t0001 a0001c0042t0002 a0001c0043t0002 a0001c0045t0001 a0001c0050t0002	a0001c0001t0001g0170 a0001c0001t0001g0184 a0001c0002t0001g0322 others(76): Show a0001c0001t0001g0170 a0001c0001t0001g0184 a0001c0002t0001g0322 a0001c0002t0002g0001 a0001c0002t0002g0004 a0001c0002t0002g0014 a0001c0002t0002g0015 a0001c0002t0002g0016 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0252 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0267 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0275 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0280 a0001c0002t0002g0282 a0001c0002t0002g0284 a0001c0002t0002g0286 a0001c0002t0002g0287 a0001c0002t0002g0288 a0001c0002t0002g0289 a0001c0002t0002g0290 a0001c0002t0002g0291 a0001c0002t0002g0292 a0001c0002t0002g0293 a0001c0002t0002g0294 a0001c0002t0002g0296 a0001c0002t0002g0297 a0001c0002t0002g0299 a0001c0002t0002g0300 a0001c0002t0002g0301 a0001c0002t0002g0305 a0001c0002t0002g0307 a0001c0002t0002g0308 a0001c0002t0002g0309 a0001c0002t0002g0313 a0001c0002t0002g0315 a0001c0002t0002g0316 a0001c0002t0002g0317 a0001c0002t0002g0319 a0001c0002t0002g0321 a0001c0002t0002g0323 a0001c0002t0002g0324 a0001c0002t0002g0329 a0001c0002t0008g0017 a0001c0002t0009g0330 a0001c0002t0012g0018 a0001c0002t0013g0314 a0001c0002t0014g0328 a0001c0006t0001g0303 a0001c0006t0001g0304 a0001c0006t0001g0306 a0001c0007t0001g0302 a0001c0015t0002g0260 a0001c0015t0002g0326 a0001c0015t0002g0327 a0001c0023t0001g0250 a0001c0023t0001g0251 a0001c0024t0002g0318 a0001c0024t0002g0320 a0001c0033t0002g0018 a0001c0035t0001g0052 a0001c0039t0001g0281 a0001c0042t0002g0295 a0001c0043t0002g0285 a0001c0045t0001g0051 a0001c0050t0002g0298	92	364	0.2528	-124	c.115 others(15): Show c.115+136_116-129del	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr21	TogoVar
CROCC2_chr2_240901336_240998311	240985535	CACTCCAC others(117): Show CACTCCACACACACACACCCAGGCACTCACTGCACACACCCAGCACACAC ACCCAGGCACTCACTCCACACACACCCAGACACTCACTCCACACACACCC AGGCACTCACTCCACACACACCCAG	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01081.hp2 HG01952.hp1 others(11): Show HG00621.hp2 HG01081.hp2 HG01952.hp1 HG02129.hp1 HG02129.hp2 HG02300.hp2 HG03831.hp2 NA18612.hp1 NA18954.hp2 NA18986.hp2 NA18995.hp1 NA19012.hp1 NA19012.hp2 NA19070.hp1	a0001 a0005 a0006 others(3): Show a0001 a0005 a0006 a0011 a0033 a0056	a0001c0001 a0001c0022 a0005c0005 others(5): Show a0001c0001 a0001c0022 a0005c0005 a0006c0006 a0011c0038 a0011c0044 a0033c0049 a0056c0094	a0001c0001t0001 a0001c0001t0002 a0001c0022t0002 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0022t0002 a0005c0005t0001 a0006c0006t0009 a0011c0038t0001 a0011c0044t0002 a0033c0049t0001 a0056c0094t0001	a0001c0001t0001g0156 a0001c0001t0001g0191 a0001c0001t0002g0308 others(11): Show a0001c0001t0001g0156 a0001c0001t0001g0191 a0001c0001t0002g0308 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0326 a0001c0022t0002g0343 a0005c0005t0001g0016 a0006c0006t0009g0102 a0011c0038t0001g0050 a0011c0044t0002g0317 a0033c0049t0001g0198 a0056c0094t0001g0053	14	350	0.0400	-124	c.455 others(19): Show c.4551+2507_4551+2630del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	28/31			chr2	TogoVar
CYTH1_chr17_78669048_78787273	78760361	ATATATAT others(117): Show ATATATATATATATATATATATATACACACACATACATATATATATGTGT ATATATATATATATACACATACATATATATATGTATATATATATACATAC ATATATATATGTATATATATGTATG	A A	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA19068.hp1 NA18989.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0078 a0001c0001t0003g0082 a0001c0001t0003g0078 a0001c0001t0003g0082	2	378	0.0053	-124	c.22+ others(17): Show c.22+21717_22+21840del	CYTH1	ENSG00000108669.18	transcript	ENST00000446868.8	protein_coding	1/13			chr17	TogoVar
CYTH1_chr17_78669048_78787273	78760383	ATACACAC others(117): Show ATACACACACATACATATATATATGTGTATATATATATATATACACATAC ATATATATATGTATATATATATACATACATATATATATGTATATATATGT ATGTATATATATATACATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00597.hp1 HG00621.hp2 others(9): Show HG00099.hp2 HG00597.hp1 HG00621.hp2 HG01516.hp2 HG02055.hp1 NA18948.hp2 NA18952.hp2 NA18970.hp2 NA18975.hp2 NA18992.hp2 NA18993.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008	a0001c0001t0002g0015 a0001c0001t0002g0271 a0001c0001t0002g0298 others(9): Show a0001c0001t0002g0015 a0001c0001t0002g0271 a0001c0001t0002g0298 a0001c0001t0002g0306 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0323 a0001c0001t0006g0328 a0001c0001t0006g0344 a0001c0001t0006g0345 a0001c0001t0006g0346 a0001c0001t0008g0268	12	378	0.0318	-124	c.22+ others(17): Show c.22+21695_22+21818del	CYTH1	ENSG00000108669.18	transcript	ENST00000446868.8	protein_coding	1/13			chr17	TogoVar
DAPP1_chr4_99811827_99875190	99842832	TGAAGTAC others(117): Show TGAAGTACAGATATTTCTTTCTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCCCACTGCA AGCTCCGCCTCCCGGGTTCACGCCA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02258.hp1 HG02922.hp1 others(4): Show HG01884.hp2 HG02258.hp1 HG02922.hp1 HG02965.hp1 HG03209.hp2 HG03486.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0023 a0001c0001t0001g0060 others(1): Show a0001c0001t0001g0014 a0001c0001t0001g0023 a0001c0001t0001g0060 a0001c0001t0001g0062	7	366	0.0191	-124	c.358 others(17): Show c.358+2429_358+2552del	DAPP1	ENSG00000070190.13	transcript	ENST00000512369.2	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
DCAKD_chr17_45018344_45056632	45051795	GCGGGGCC others(117): Show GCGGGGCCGGGAGAGGTTGGGCGGGCGGGCGGGCGGGGCCGGGAGAGGTT GGGCGGGCGGGCGGGCGGGGCCGGGAGAGGTTGGGCGGGCGGGCGGACGC GGGAGAGGTTGGGCGGGCGGGCGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG03579.hp1 NA18942.hp2 HG00609.hp2 HG03579.hp1 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0002 a0001c0001t0016	a0001c0001t0002g0001 a0001c0001t0002g0229 a0001c0001t0016g0208 a0001c0001t0002g0001 a0001c0001t0002g0229 a0001c0001t0016g0208	3	408	0.0074	-124	c.-67 others(9): Show c.-673_-550del	DCAKD	ENSG00000172992.13	transcript	ENST00000651974.1	protein_coding		164		chr17	TogoVar
DCDC2C_chr2_3698575_3853008	3777969	TCCCACAC others(117): Show TCCCACACCGCATCTTCTCTTCCTTTGCAGTCAGGAAACAGGAGGCGCCA GGGCCTCCATCAGTAGGTTACCTGAGTGGCTGTGTGGACGGGACACCCCC TGGCCAGCTGGACGCATGTGCAGCA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp2 others(117): Show HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00738.hp1 HG00741.hp2 HG01099.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01257.hp1 HG01257.hp2 HG01496.hp1 HG01496.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp2 HG02155.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02647.hp1 HG02683.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp2 HG03490.hp1 HG03492.hp1 HG03579.hp2 HG03927.hp1 HG03942.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18941.hp1 NA18953.hp1 NA18957.hp2 NA18963.hp2 NA18965.hp1 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18978.hp2 NA18979.hp1 NA18983.hp2 NA18989.hp1 NA18990.hp2 NA18992.hp2 NA18995.hp1 NA18999.hp2 NA19000.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19012.hp1 NA19056.hp1 NA19057.hp1 NA19060.hp1 NA19063.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19081.hp2 NA19083.hp1 NA19090.hp2 NA20129.hp2 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0002 a0001c0006 others(4): Show a0001c0001 a0001c0002 a0001c0006 a0001c0013 a0002c0003 a0002c0004 a0007c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0001t0015 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0002t0014 a0001c0002t0025 a0001c0006t0010 a0001c0013t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0011 a0002c0003t0017 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0007c0011t0023	a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0036 others(117): Show a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0036 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0298 a0001c0001t0001g0313 a0001c0001t0001g0315 a0001c0001t0002g0017 a0001c0001t0002g0024 a0001c0001t0002g0027 a0001c0001t0002g0033 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0110 a0001c0001t0002g0117 a0001c0001t0002g0136 a0001c0001t0002g0142 a0001c0001t0002g0158 a0001c0001t0002g0160 a0001c0001t0002g0245 a0001c0001t0002g0307 a0001c0001t0003g0023 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0047 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0090 a0001c0001t0003g0105 a0001c0001t0003g0109 a0001c0001t0003g0138 a0001c0001t0003g0141 a0001c0001t0003g0154 a0001c0001t0003g0156 a0001c0001t0004g0254 a0001c0001t0004g0258 a0001c0001t0004g0266 a0001c0001t0004g0267 a0001c0001t0004g0275 a0001c0001t0004g0282 a0001c0001t0004g0300 a0001c0001t0005g0049 a0001c0001t0005g0059 a0001c0001t0005g0120 a0001c0001t0005g0195 a0001c0001t0005g0196 a0001c0001t0005g0259 a0001c0001t0005g0271 a0001c0001t0005g0322 a0001c0001t0006g0116 a0001c0001t0006g0144 a0001c0001t0006g0252 a0001c0001t0006g0253 a0001c0001t0006g0268 a0001c0001t0006g0286 a0001c0001t0006g0299 a0001c0001t0006g0301 a0001c0001t0006g0302 a0001c0001t0009g0060 a0001c0001t0009g0273 a0001c0001t0009g0277 a0001c0001t0009g0278 a0001c0001t0009g0290 a0001c0001t0012g0272 a0001c0001t0015g0074 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0114 a0001c0002t0001g0121 a0001c0002t0001g0163 a0001c0002t0001g0223 a0001c0002t0001g0230 a0001c0002t0001g0246 a0001c0002t0001g0296 a0001c0002t0002g0122 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0002g0146 a0001c0002t0003g0124 a0001c0002t0003g0129 a0001c0002t0004g0016 a0001c0002t0004g0262 a0001c0002t0005g0264 a0001c0002t0005g0276 a0001c0002t0007g0130 a0001c0002t0007g0131 a0001c0002t0008g0170 a0001c0002t0008g0173 a0001c0002t0008g0174 a0001c0002t0008g0175 a0001c0002t0008g0176 a0001c0002t0014g0068 a0001c0002t0025g0164 a0001c0006t0010g0198 a0001c0013t0001g0226 a0002c0003t0001g0179 a0002c0003t0001g0204 a0002c0003t0001g0238 a0002c0003t0002g0217 a0002c0003t0003g0189 a0002c0003t0003g0191 a0002c0003t0003g0220 a0002c0003t0011g0236 a0002c0003t0017g0237 a0002c0004t0001g0187 a0002c0004t0001g0194 a0002c0004t0002g0192 a0002c0004t0003g0181 a0002c0004t0003g0185 a0002c0004t0003g0186 a0002c0004t0003g0193 a0002c0004t0003g0197 a0002c0004t0003g0202 a0002c0004t0003g0203 a0007c0011t0023g0046	120	324	0.3704	-124	c.955 others(15): Show c.955-798_955-675del	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DDX17_chr22_38478438_38511311	38487200	TCAGACCA others(117): Show TCAGACCAGCCTCAGCTAGGTTTGGTGGCTCACTCCTGTAATCTCAGCAC TTTGGGAGGCCAAGACAGGTGGATCACCAGAGGTCAGGAGTTCGAGACCA GCCAGGCCAACATGGTGAAACTCCA	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 NA19081.hp1 HG01106.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0010 a0001c0004t0001 a0001c0001t0010 a0001c0004t0001	a0001c0001t0010g0194 a0001c0004t0001g0181 a0001c0001t0010g0194 a0001c0004t0001g0181	2	364	0.0055	-124	c.168 others(17): Show c.1684+555_1684+678del	DDX17	ENSG00000100201.23	transcript	ENST00000403230.3	protein_coding	12/12			chr22	TogoVar
DENND1A_chr9_123374658_123935126	123405111	TTCCTGCC others(117): Show TTCCTGCCCACCCTTTGAGTTTCCAGGACAAGACAGGGAAGGGAAGCAGG CACACACTCCACCTCCTGCCCACCCTTTGAGTTTCCAGGACAAGACAGGG AAGGGAAGCAGGCACACACTCCACC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp2 HG02145.hp1 others(7): Show HG01109.hp2 HG01243.hp2 HG02145.hp1 HG02280.hp1 HG02451.hp1 HG02559.hp1 HG06807.hp1 NA19043.hp1 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0005 a0001c0008 a0001c0012 a0001c0005 a0001c0008 a0001c0012	a0001c0005t0005 a0001c0008t0001 a0001c0012t0007 a0001c0005t0005 a0001c0008t0001 a0001c0012t0007	a0001c0005t0005g0123 a0001c0005t0005g0125 a0001c0005t0005g0128 others(7): Show a0001c0005t0005g0123 a0001c0005t0005g0125 a0001c0005t0005g0128 a0001c0005t0005g0130 a0001c0005t0005g0131 a0001c0005t0005g0133 a0001c0005t0005g0134 a0001c0008t0001g0064 a0001c0012t0007g0113 a0001c0012t0007g0141	10	162	0.0617	-124	c.154 others(19): Show c.1543-1745_1543-1622del	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	20/23			chr9	TogoVar
DHRS12_chr13_51762993_51809163	51775974	CCTACAGT others(117): Show CCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTATTC TCCTACATGTATTCTACAGTATTCTCCTACATGTATTCTACAGTATTCTC CTACATGTATTCTCCTACATGTATT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0318 a0001c0001t0002g0318	1	420	0.0024	-124	c.363 others(16): Show c.363+962_363+1085del	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRS12_chr13_51762993_51809163	51776059	TTCTACAG others(117): Show TTCTACAGTATTCTCCTACATGTATTCTCCTACATGTATTCTACAGTATT CTCCTACATGTATTCTACAGTATTCTCCTACATGTATTCTCCTACATGTA TTCTACAGTATTCTCCTACATGTAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp1 others(125): Show HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00609.hp1 HG00642.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01123.hp2 HG01168.hp1 HG01192.hp1 HG01256.hp2 HG01257.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01952.hp2 HG01975.hp2 HG01981.hp2 HG02015.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02165.hp2 HG02273.hp1 HG02523.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02738.hp1 HG02970.hp2 HG03017.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18939.hp2 NA18944.hp2 NA18948.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18957.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18986.hp2 NA18990.hp2 NA18991.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19055.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19085.hp2 NA19086.hp2 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0008	a0001c0001 a0003c0003 a0005c0005 others(1): Show a0001c0001 a0003c0003 a0005c0005 a0008c0009	a0001c0001t0001 a0001c0001t0002 a0003c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0003c0003t0001 a0003c0003t0002 a0005c0005t0001 a0008c0009t0002	a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0010 others(97): Show a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0039 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0128 a0001c0001t0001g0140 a0001c0001t0001g0153 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0219 a0001c0001t0001g0233 a0001c0001t0001g0257 a0001c0001t0001g0302 a0001c0001t0001g0322 a0001c0001t0002g0014 a0001c0001t0002g0020 a0001c0001t0002g0043 a0001c0001t0002g0053 a0001c0001t0002g0056 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0124 a0001c0001t0002g0126 a0001c0001t0002g0162 a0001c0001t0002g0180 a0001c0001t0002g0183 a0001c0001t0002g0214 a0001c0001t0002g0230 a0001c0001t0002g0260 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0269 a0001c0001t0002g0273 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0281 a0001c0001t0002g0283 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0298 a0001c0001t0002g0300 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0319 a0001c0001t0002g0323 a0003c0003t0001g0032 a0003c0003t0001g0041 a0003c0003t0001g0170 a0003c0003t0001g0171 a0003c0003t0001g0222 a0003c0003t0001g0223 a0003c0003t0002g0201 a0003c0003t0002g0248 a0005c0005t0001g0200 a0008c0009t0002g0311	128	420	0.3048	-124	c.363 others(16): Show c.363+877_363+1000del	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DIP2C_chr10_269201_694668	679269	ACCCGTGC others(117): Show ACCCGTGCTCCCTGTGCCCATCTCTGCTCCCCACGCCCAGGCTCCCCGCA CCCATCCTCCCTGCGCCCATGCTCCCCACACCCATCCTCTTCGCGCCCAT GCTCCCCGCATCCGTCCTCCCCGCG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp1 HG00609.hp2 others(58): Show HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01258.hp2 HG01515.hp1 HG01515.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp2 HG02165.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02602.hp1 HG02602.hp2 HG02647.hp2 HG02922.hp1 HG03225.hp2 HG03579.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 NA18747.hp1 NA18906.hp2 NA18962.hp2 NA18970.hp1 NA18970.hp2 NA19007.hp1 NA19007.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19081.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0009 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0015 a0001c0017 a0001c0020 a0001c0021 a0001c0022 a0001c0023	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(20): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0002 a0001c0004t0001 a0001c0004t0003 a0001c0006t0001 a0001c0006t0002 a0001c0007t0002 a0001c0007t0007 a0001c0009t0003 a0001c0011t0003 a0001c0012t0002 a0001c0013t0002 a0001c0014t0001 a0001c0015t0002 a0001c0017t0002 a0001c0020t0008 a0001c0021t0002 a0001c0022t0003 a0001c0023t0003	a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 others(58): Show a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0072 a0001c0001t0001g0079 a0001c0001t0003g0070 a0001c0001t0003g0075 a0001c0001t0003g0085 a0001c0002t0001g0031 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0061 a0001c0002t0001g0066 a0001c0002t0001g0080 a0001c0002t0002g0055 a0001c0002t0002g0067 a0001c0002t0003g0029 a0001c0002t0003g0030 a0001c0002t0003g0036 a0001c0002t0003g0042 a0001c0002t0003g0043 a0001c0002t0003g0047 a0001c0002t0003g0059 a0001c0002t0003g0063 a0001c0003t0002g0032 a0001c0003t0002g0037 a0001c0003t0002g0040 a0001c0003t0002g0053 a0001c0003t0002g0054 a0001c0003t0002g0062 a0001c0003t0002g0065 a0001c0003t0002g0069 a0001c0004t0001g0041 a0001c0004t0001g0068 a0001c0004t0001g0084 a0001c0004t0003g0039 a0001c0004t0003g0078 a0001c0006t0001g0045 a0001c0006t0002g0038 a0001c0006t0002g0046 a0001c0006t0002g0058 a0001c0007t0002g0076 a0001c0007t0002g0077 a0001c0007t0007g0060 a0001c0009t0003g0003 a0001c0011t0003g0088 a0001c0012t0002g0052 a0001c0013t0002g0035 a0001c0014t0001g0044 a0001c0015t0002g0083 a0001c0017t0002g0064 a0001c0020t0008g0074 a0001c0021t0002g0081 a0001c0022t0003g0002 a0001c0023t0003g0071	61	88	0.6932	-124	c.85+ others(17): Show c.85+10101_85+10224del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DLC1_chr8_13078361_13519851	13453391	TATATATA others(117): Show TATATATATATGTGTATATATATATATATATATGTGTATATATATATGTA TATATATACATATATATATGTATATATATACATATATATGTATATATATA CATATATATATGTATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01975.hp2 NA19070.hp2 others(2): Show HG01928.hp1 HG01975.hp2 NA19070.hp2 NA19077.hp2 NA19088.hp2	a0004 a0005 a0004 a0005	a0004c0005 a0005c0008 a0005c0012 a0004c0005 a0005c0008 a0005c0012	a0004c0005t0002 a0005c0008t0001 a0005c0012t0003 a0004c0005t0002 a0005c0008t0001 a0005c0012t0003	a0004c0005t0002g0178 a0005c0008t0001g0118 a0005c0008t0001g0119 others(2): Show a0004c0005t0002g0178 a0005c0008t0001g0118 a0005c0008t0001g0119 a0005c0012t0003g0117 a0005c0012t0003g0166	5	212	0.0236	-124	c.102 others(21): Show c.1023+45534_1023+45657del	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	2/17			chr8	TogoVar
DLGAP2_chr8_732628_1713476	1641910	CGCCGGCC others(117): Show CGCCGGCCCTCACCTGTGTCACCCTCGACCCCGCCGGTCCTCACCTGTGT CACCCTCGACCCCGCCGGTCCCCACCTGTGTCACCCTCGACCCCGCTGGT CCTCACCTGTGTCACCCTCGACCCT	C C	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0016 a0004c0008t0016	a0004c0008t0016g0029 a0004c0008t0016g0029	1	40	0.0250	-124	c.181 others(19): Show c.1810+8873_1810+8996del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1641947	TCCTCACC others(117): Show TCCTCACCTGTGTCACCCTCGACCCCGCCGGTCCCCACCTGTGTCACCCT CGACCCCGCTGGTCCTCACCTGTGTCACCCTCGACCCTGCCGGCCCCCAC CTGTGTCACCCTCGACCCCGCCGGC	T T	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0011 a0001c0002t0006g0011	1	40	0.0250	-124	c.181 others(19): Show c.1810+8923_1810+9046del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1642878	TCCTCACC others(117): Show TCCTCACCTGTGTCACCCTCGACCCCCCCGGTCCTCACCTGTGTCACCCT CGACCCCCCCGGTCCTCACCTGTGTCACCCTCGACCCCGCCGGTCCTCAC CTGTGTCACCCTCGACCCCGCCGGC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0017 a0002c0001t0002 a0002c0001t0003 a0001c0003t0017 a0002c0001t0002 a0002c0001t0003	a0001c0003t0017g0004 a0002c0001t0002g0013 a0002c0001t0003g0017 a0001c0003t0017g0004 a0002c0001t0002g0013 a0002c0001t0003g0017	3	40	0.0750	-124	c.181 others(19): Show c.1810+9854_1810+9977del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1643303	CCCCGCCG others(117): Show CCCCGCCGGCCCTCACCTGTGTCACCCTGGAACCCGCCGGCCCTCACCTG TGTCACCCTGGAACCCGCCGGCCCTCACCTGTGTCACCCTCGACCCCGCC GGCCCTCACCTGTGTCACCCTGGAA	C C	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0016 a0004c0008t0016	a0004c0008t0016g0029 a0004c0008t0016g0029	1	40	0.0250	-124	c.181 others(21): Show c.1810+10297_1810+10420del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr8	TogoVar

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