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	130049027	GGAGAACA others(119): Show GGAGAACACACTGGGGGGGCGCAGAGGAGAACACATTGGGGGGCGCAGAG GAGAATACATGGGGGGGCAGAGAATACATGGGGTGCAGAGAACACATGGG GGGCAGAAGAGAACACGGGGGGCAGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02922.hp1 HG02145.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0017 a0001c0001t0008g0021 a0001c0001t0008g0017 a0001c0001t0008g0021	2	308	0.0065	-126	c.55 others(11): Show c.5578_*5703del	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		3076		chr8	TogoVar
B4GALNT3_chr12_454939_568509	543994	GCGGGCAT others(119): Show GCGGGCATGGGGTGCTCATCTTCCCGGAGCTGAGGAGCTGGGGCGGGCAT GGGGTGCTCATCTTCCCAGAGCTGAGGAGCTGGGGCGGGCATGGGGTGCT CATCTTCCTGGAGCTGAGGAGCTGGGA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0002 a0007c0008t0002	a0007c0008t0002g0004 a0007c0008t0002g0004	1	394	0.0025	-126	c.352 others(15): Show c.352-325_352-200del	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	544047	GTGCTCAT others(119): Show GTGCTCATCTTCCCAGAGCTGAGGAGCTGGGGCGGGCATGGGGTGCTCAT CTTCCTGGAGCTGAGGAGCTGGGACGGGCATGGGGTGCTCATCCTCCTGG AGCTGAGGATCTGGGGCGGGTGTGGGA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00741.hp1 HG01074.hp2 others(16): Show HG00642.hp2 HG00741.hp1 HG01074.hp2 HG01255.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01884.hp1 HG01952.hp2 HG02257.hp1 HG02257.hp2 HG02630.hp1 HG02723.hp1 HG02735.hp2 HG02895.hp2 HG02897.hp2 HG03130.hp2 HG03516.hp2 NA19240.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0006 a0013 a0016 a0022	a0001c0001 a0001c0048 a0002c0003 others(7): Show a0001c0001 a0001c0048 a0002c0003 a0002c0034 a0002c0036 a0003c0004 a0006c0023 a0013c0019 a0016c0035 a0022c0037	a0001c0001t0003 a0001c0001t0058 a0001c0001t0060 others(12): Show a0001c0001t0003 a0001c0001t0058 a0001c0001t0060 a0001c0001t0096 a0001c0048t0044 a0002c0003t0006 a0002c0034t0072 a0002c0036t0006 a0003c0004t0002 a0003c0004t0020 a0003c0004t0029 a0006c0023t0002 a0013c0019t0002 a0016c0035t0010 a0022c0037t0002	a0001c0001t0003g0101 a0001c0001t0058g0121 a0001c0001t0060g0080 others(16): Show a0001c0001t0003g0101 a0001c0001t0058g0121 a0001c0001t0060g0080 a0001c0001t0096g0003 a0001c0048t0044g0394 a0002c0003t0006g0046 a0002c0003t0006g0345 a0002c0034t0072g0210 a0002c0036t0006g0346 a0003c0004t0002g0285 a0003c0004t0002g0297 a0003c0004t0020g0189 a0003c0004t0029g0182 a0003c0004t0029g0300 a0006c0023t0002g0230 a0013c0019t0002g0185 a0013c0019t0002g0186 a0016c0035t0010g0342 a0022c0037t0002g0227	19	394	0.0482	-126	c.352 others(15): Show c.352-283_352-158del	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
BANP_chr16_87946434_88082316	88019574	GGCGTCCG others(119): Show GGCGTCCGGGATCTCGGCGTGCGGGATCTCAGCGTGCGGGGGGCGTCCGG GCGTGCGGGATCTCAGCGTGCGGGGGGCGGGGCGTCCGGGATCTCAGCGT GCGGGGGGCGGGGCGTCCGGGATCTCA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01891.hp1 HG02451.hp1 others(7): Show HG01167.hp2 HG01891.hp1 HG02451.hp1 HG02647.hp2 HG02809.hp2 HG03239.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp1 NA20905.hp1	a0001 a0001	a0001c0005 a0001c0010 a0001c0027 a0001c0005 a0001c0010 a0001c0027	a0001c0005t0005 a0001c0010t0007 a0001c0027t0007 a0001c0005t0005 a0001c0010t0007 a0001c0027t0007	a0001c0005t0005g0064 a0001c0010t0007g0122 a0001c0010t0007g0123 others(7): Show a0001c0005t0005g0064 a0001c0010t0007g0122 a0001c0010t0007g0123 a0001c0010t0007g0127 a0001c0010t0007g0149 a0001c0010t0007g0151 a0001c0010t0007g0156 a0001c0010t0007g0158 a0001c0010t0007g0159 a0001c0027t0007g0090	10	352	0.0284	-126	c.895 others(16): Show c.895+912_895+1037del	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
BCL11A_chr2_60452194_60558654	60467417	GTGATGGT others(119): Show GTGATGGTGGTGGTGGTAGTGATGGTGGTGGTAATGGTGGTGGTGGTGAT GGTGGTGGTAATGGTGGTGGTGGTGATGGTGGTGATGATGGTGATGGTAC TGGTGGTGATGGTGATGGTGATGGTAC	G G	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01256.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0150 a0001c0001t0011g0151 a0001c0001t0011g0150 a0001c0001t0011g0151	2	262	0.0076	-126	c.487 others(17): Show c.487+1189_487+1314del	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BIRC6_chr2_32352023_32623878	32447469	GGGCGGGG others(119): Show GGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGCGGCTGGCCA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02145.hp2 HG02451.hp2 others(11): Show HG01109.hp1 HG02145.hp2 HG02451.hp2 HG02559.hp2 HG02622.hp1 HG02630.hp2 HG02717.hp2 HG02922.hp2 HG03041.hp2 HG03130.hp1 HG03516.hp1 HG06807.hp2 NA18522.hp2 NA19240.hp2	a0001 a0007 a0001 a0007	a0001c0007 a0001c0013 a0001c0030 others(2): Show a0001c0007 a0001c0013 a0001c0030 a0001c0046 a0007c0045	a0001c0007t0004 a0001c0007t0006 a0001c0007t0007 others(4): Show a0001c0007t0004 a0001c0007t0006 a0001c0007t0007 a0001c0013t0003 a0001c0030t0004 a0001c0046t0002 a0007c0045t0008	a0001c0007t0004g0017 a0001c0007t0004g0018 a0001c0007t0004g0019 others(11): Show a0001c0007t0004g0017 a0001c0007t0004g0018 a0001c0007t0004g0019 a0001c0007t0004g0020 a0001c0007t0004g0022 a0001c0007t0006g0185 a0001c0007t0007g0021 a0001c0013t0003g0036 a0001c0013t0003g0152 a0001c0013t0003g0153 a0001c0013t0003g0154 a0001c0030t0004g0016 a0001c0046t0002g0155 a0007c0045t0008g0151	14	274	0.0511	-126	c.448 others(19): Show c.4485-1288_4485-1163del	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	21/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BLOC1S2_chr10_100268293_100291680	100277888	GTCAGCCC others(119): Show GTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGC CGCCCTGTCCGGGAGGGAGGTGAGGGA	G G	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0207 a0001c0001t0006g0207	1	378	0.0027	-126	c.397 others(17): Show c.397+2110_397+2235del	BLOC1S2	ENSG00000196072.12	transcript	ENST00000370372.7	protein_coding	4/4			chr10	TogoVar
BPHL_chr6_3113711_3158578	3145430	TCAGGGTG others(119): Show TCAGGGTGGAGCGCTGGTTCGGGGTGGAGTGCTGGTTTGGGTTTGAATGC TGATTCGGGGTGGAGTGCTGGTTCGGGGTGGAGTGCTGGTTCAGGGTGGA GTGCTGGTTCCGGTTGGAGTGCTGGTG	T T	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	350	0.0029	-126	c.788 others(17): Show c.788+4922_788+5047del	BPHL	ENSG00000137274.13	transcript	ENST00000380379.10	protein_coding	6/6			chr6	TogoVar
C7orf50_chr7_992006_1143247	1038717	CCCTCCGC others(119): Show CCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCAG	C C	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0192 a0001c0001t0004g0192	1	326	0.0031	-126	c.130 others(19): Show c.130-28700_130-28575del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CADM2_chr3_84953989_86079429	85769074	TACATATA others(119): Show TACATATATAGTATATATACACATATATACATATATGTATATATACACAT ATATACATATATAGTATATATACACATATATACATATATAGTATATATAC ACATATATACATATATAGTATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0095 a0001c0002t0007g0095	1	146	0.0069	-126	c.89- others(17): Show c.89-32963_89-32838del	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CBFA2T3_chr16_88869858_88982207	88933252	GCACGCCT others(119): Show GCACGCCTCACAGTGCCACACGTCTGCACGCCTCTGCACACGTCACGTGC CTCTATACGCCTCACACGCCTCACAGTGCCACACGTCTGCACGCCTCTGC ACACGTCACGTGCCTCTATACGCCTCA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01978.hp1 HG02145.hp1 others(11): Show HG01891.hp1 HG01978.hp1 HG02145.hp1 HG02293.hp2 HG02559.hp2 HG02622.hp1 HG02886.hp2 HG03098.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03579.hp1 HG04204.hp1 NA18522.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0015 a0005c0014	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0015t0007 a0005c0014t0001	a0001c0001t0001g0022 a0001c0001t0001g0055 a0001c0001t0001g0098 others(11): Show a0001c0001t0001g0022 a0001c0001t0001g0055 a0001c0001t0001g0098 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0133 a0001c0001t0001g0162 a0001c0001t0001g0248 a0001c0002t0001g0102 a0001c0002t0001g0104 a0001c0003t0001g0252 a0001c0003t0002g0253 a0001c0015t0007g0115 a0005c0014t0001g0247	14	284	0.0493	-126	c.152 others(19): Show c.152-31722_152-31597del	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CCDC126_chr7_23592382_23649708	23637529	GGGGGGAT others(119): Show GGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCTTCCGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCTCCTCTGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00323.hp2 others(123): Show HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00609.hp2 HG00639.hp1 HG00733.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01168.hp1 HG01169.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02293.hp1 HG02451.hp1 HG02486.hp2 HG02622.hp1 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG04115.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18906.hp1 NA18940.hp2 NA18941.hp1 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18954.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18965.hp2 NA18966.hp1 NA18972.hp2 NA18979.hp2 NA18984.hp2 NA18992.hp1 NA18995.hp1 NA19004.hp2 NA19005.hp2 NA19009.hp1 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19060.hp1 NA19064.hp1 NA19066.hp2 NA19070.hp1 NA19075.hp1 NA19079.hp2 NA19080.hp2 NA19082.hp1 NA19083.hp2 NA19085.hp2 NA20300.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0002 a0001c0001 a0001c0003 a0004c0002	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(7): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0019 a0001c0001t0021 a0001c0003t0001 a0004c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(121): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0338 a0001c0001t0001g0349 a0001c0001t0007g0316 a0001c0001t0007g0317 a0001c0001t0007g0359 a0001c0001t0008g0069 a0001c0001t0008g0072 a0001c0001t0011g0063 a0001c0001t0012g0315 a0001c0001t0014g0145 a0001c0001t0019g0120 a0001c0001t0021g0375 a0001c0003t0001g0188 a0004c0002t0001g0104	126	380	0.3316	-126	c.239 others(17): Show c.239-5396_239-5271del	CCDC126	ENSG00000169193.12	transcript	ENST00000307471.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CCDC6_chr10_59783747_59911556	59882161	CCGGCGGG others(119): Show CCGGCGGGATGAAGGAATATGAAATGCCGGGGGGAGAAGGAAAGGTAAAG CCGCGGGGAGTAAGGAAAGGAAAGTCCGGGGTAGTAAGGAAAGGTAAAGC CGGGGGGATGAATGGAAAGGTAATGCT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02622.hp1 HG02630.hp2 others(6): Show HG02572.hp1 HG02622.hp1 HG02630.hp2 HG02818.hp1 HG02922.hp2 HG03471.hp1 HG04115.hp1 NA18906.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0005 a0002c0002 a0001c0003 a0001c0005 a0002c0002	a0001c0003t0003 a0001c0005t0004 a0002c0002t0001 a0001c0003t0003 a0001c0005t0004 a0002c0002t0001	a0001c0003t0003g0037 a0001c0003t0003g0038 a0001c0003t0003g0039 others(6): Show a0001c0003t0003g0037 a0001c0003t0003g0038 a0001c0003t0003g0039 a0001c0003t0003g0040 a0001c0003t0003g0041 a0001c0003t0003g0042 a0001c0003t0003g0108 a0001c0005t0004g0195 a0002c0002t0001g0257	9	288	0.0313	-126	c.303 others(19): Show c.303+23835_303+23960del	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCDC73_chr11_32597721_32799662	32755768	TATATGTG others(119): Show TATATGTGTATATATATATATCTCCATATATGTGTATATATATATCTCCA TATATATGTGTGTGTATATATCTCCATATATATGTGTGTGTATATATCTC CATATATATATCTGTGTATATATCTCC	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0141 a0001c0003t0001g0141	1	312	0.0032	-126	c.135 others(17): Show c.135+4215_135+4340del	CCDC73	ENSG00000186714.13	transcript	ENST00000335185.10	protein_coding	2/17			chr11	TogoVar
CCDC73_chr11_32597721_32799662	32755857	GTATATAT others(119): Show GTATATATCTCCATATATATATCTGTGTATATATCTCCATATATATCTAT ATATATCTCCATATATATATCTATATATATATCTCCATATATATATCTAT ATATATATCTCCATATATATATCTATA	G G	intron_variant intron_variant	MODIFIER	HG01975.hp2 NA18992.hp2 NA19011.hp2 others(1): Show HG01975.hp2 NA18992.hp2 NA19011.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0188 a0001c0001t0001g0190 others(1): Show a0001c0001t0001g0178 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0198	4	312	0.0128	-126	c.135 others(17): Show c.135+4126_135+4251del	CCDC73	ENSG00000186714.13	transcript	ENST00000335185.10	protein_coding	2/17			chr11	TogoVar
CD38_chr4_15773328_15858232	15791713	GGGAGGTG others(119): Show GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAT CCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGAGGGTCAGC CCCCCGCCCGGCCAGCCGCCCTATCCA	G G	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	344	0.0029	-126	c.233 others(19): Show c.233+13115_233+13240del	CD38	ENSG00000004468.13	transcript	ENST00000226279.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
CDCP1_chr3_45077277_45151378	45108805	ATGCATGT others(119): Show ATGCATGTATACATATATATGCATGTATATATATATATGCATGTATACAT ATATATGCATGTATATATATATATGCATGTATACATATATATATATATGC ATGTATACATATATATATATATGCATG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02451.hp1 HG02486.hp1 others(11): Show HG02258.hp2 HG02451.hp1 HG02486.hp1 HG02622.hp1 HG02897.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03453.hp2 HG03540.hp1 HG03540.hp2 NA18522.hp1 NA18906.hp1 NA19240.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0021 others(1): Show a0001c0001 a0002c0002 a0002c0021 a0003c0006	a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 others(8): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0018 a0002c0002t0003 a0002c0002t0008 a0002c0002t0009 a0002c0002t0012 a0002c0021t0035 a0003c0006t0011 a0003c0006t0022	a0001c0001t0002g0138 a0001c0001t0006g0237 a0001c0001t0008g0244 others(11): Show a0001c0001t0002g0138 a0001c0001t0006g0237 a0001c0001t0008g0244 a0001c0001t0018g0371 a0002c0002t0003g0145 a0002c0002t0003g0376 a0002c0002t0008g0377 a0002c0002t0009g0176 a0002c0002t0012g0368 a0002c0021t0035g0379 a0003c0006t0011g0148 a0003c0006t0011g0334 a0003c0006t0011g0367 a0003c0006t0022g0029	14	384	0.0365	-126	c.102 others(19): Show c.1024+1542_1024+1667del	CDCP1	ENSG00000163814.8	transcript	ENST00000296129.6	protein_coding	4/8			chr3	TogoVar
CDH4_chr20_61247261_61945617	61783771	CGGGACAG others(119): Show CGGGACAGTTCTCGAGGCCCTCAGGTGTCTTGTGCCCCCAAGAGAAATGT AATCCCAGTTCCTCGGGACAGTTCTCAAGGCCCTCAGATGTCCTGTGCCC CCAAGAGAAATGTAATCCCAGTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00423.hp2 others(25): Show HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00639.hp2 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01433.hp2 HG01496.hp2 HG01978.hp2 HG02040.hp1 HG02055.hp2 HG02148.hp1 HG02148.hp2 HG02895.hp1 HG02922.hp1 HG03195.hp1 HG03195.hp2 HG03540.hp2 HG03704.hp1 HG03704.hp2 HG04204.hp1 NA18952.hp1 NA18952.hp2 NA18960.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0007 others(10): Show a0001c0001 a0001c0003 a0001c0007 a0001c0021 a0001c0023 a0002c0002 a0002c0004 a0002c0005 a0002c0008 a0002c0009 a0002c0015 a0002c0026 a0003c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0014 a0001c0001t0028 a0001c0003t0052 a0001c0007t0010 a0001c0021t0008 a0001c0023t0044 a0002c0002t0004 a0002c0002t0013 a0002c0002t0014 a0002c0002t0016 a0002c0002t0022 a0002c0002t0039 a0002c0004t0003 a0002c0005t0007 a0002c0005t0015 a0002c0008t0001 a0002c0008t0025 a0002c0009t0035 a0002c0015t0007 a0002c0026t0015 a0003c0017t0002	a0001c0001t0001g0049 a0001c0001t0002g0059 a0001c0001t0002g0060 others(25): Show a0001c0001t0001g0049 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0076 a0001c0001t0011g0005 a0001c0001t0014g0106 a0001c0001t0028g0016 a0001c0003t0052g0064 a0001c0007t0010g0018 a0001c0007t0010g0044 a0001c0021t0008g0047 a0001c0023t0044g0084 a0002c0002t0004g0077 a0002c0002t0013g0017 a0002c0002t0014g0062 a0002c0002t0016g0073 a0002c0002t0022g0105 a0002c0002t0039g0058 a0002c0004t0003g0011 a0002c0004t0003g0034 a0002c0005t0007g0100 a0002c0005t0015g0069 a0002c0008t0001g0028 a0002c0008t0025g0024 a0002c0009t0035g0026 a0002c0015t0007g0025 a0002c0026t0015g0079 a0003c0017t0002g0053	28	106	0.2642	-126	c.576 others(19): Show c.576+10602_576+10727del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61784564	GAAATGTA others(119): Show GAAATGTAATCCCAGTTCCTCGGGACAGTTCTCCAGGCCCTCCGATATCC TGTGCCCCCAGGAGAATGTAAGCCCAGTTCCTCGGGACAGTTCTCGAGGC CCTCAGATGTCCTGTGCCCCCAAGAGA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0083 a0001c0001t0051g0083	1	106	0.0094	-126	c.576 others(19): Show c.576+11385_576+11510del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CENPVL3_chrX_51612020_51623912	51621578	CTTCTTCT others(119): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTTCTTCTTCTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	298	0.0034	-126	c.-28 others(11): Show c.-2831_-2706del	CENPVL3	ENSG00000224109.4	transcript	ENST00000417339.4	protein_coding		2667		chrX	TogoVar
CFAP99_chr4_2413955_2468002	2430153	GGACTGCG others(119): Show GGACTGCGGTGAAATGCCAGAAAATTACGCAATACATAAACCAAACGGCA GACTCCGGACAGCGGACTGCGGTGAAATGCCAGAAAATTACGCAATACGT AAACCAAACGGCAGACTGCGGACAGCA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02280.hp2 HG02896.hp2 others(5): Show HG01891.hp1 HG02280.hp2 HG02896.hp2 HG02976.hp1 HG03098.hp1 HG03225.hp1 HG03540.hp1 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0004 a0001c0006 others(1): Show a0001c0003 a0001c0004 a0001c0006 a0002c0005	a0001c0003t0002 a0001c0004t0002 a0001c0006t0002 others(1): Show a0001c0003t0002 a0001c0004t0002 a0001c0006t0002 a0002c0005t0002	a0001c0003t0002g0039 a0001c0004t0002g0043 a0001c0004t0002g0044 others(5): Show a0001c0003t0002g0039 a0001c0004t0002g0043 a0001c0004t0002g0044 a0001c0004t0002g0045 a0001c0006t0002g0038 a0001c0006t0002g0040 a0002c0005t0002g0036 a0002c0005t0002g0037	8	350	0.0229	-126	c.111 others(17): Show c.111+3602_111+3727del	CFAP99	ENSG00000206113.12	transcript	ENST00000635017.2	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP99_chr4_2413955_2468002	2430188	ATAAACCA others(119): Show ATAAACCAAACGGCAGACTCCGGACAGCGGACTGCGGTGAAATGCCAGAA AATTACGCAATACGTAAACCAAACGGCAGACTGCGGACAGCAGACTGCGG TGAAATGCCAGAAAATTACGCAATACG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00408.hp1 others(81): Show HG00099.hp1 HG00280.hp1 HG00408.hp1 HG00673.hp1 HG01074.hp1 HG01081.hp2 HG01106.hp2 HG01167.hp1 HG01169.hp1 HG01243.hp2 HG01346.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG01978.hp1 HG02015.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp2 HG02155.hp2 HG02258.hp2 HG02300.hp1 HG02572.hp2 HG02683.hp2 HG02717.hp1 HG02738.hp2 HG02895.hp1 HG02965.hp1 HG03139.hp2 HG03471.hp2 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03834.hp1 HG04199.hp2 HG06807.hp1 NA18943.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18951.hp1 NA18952.hp2 NA18954.hp2 NA18957.hp2 NA18961.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18971.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18992.hp2 NA18995.hp2 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19056.hp2 NA19060.hp1 NA19066.hp1 NA19070.hp1 NA19075.hp2 NA19084.hp1 NA19087.hp1 NA20129.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0009 a0015	a0001c0002 a0001c0003 a0001c0004 others(11): Show a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0012 a0001c0013 a0001c0015 a0002c0001 a0002c0005 a0003c0007 a0003c0010 a0003c0016 a0009c0014 a0015c0020	a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 others(11): Show a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0006t0001 a0001c0012t0001 a0001c0013t0001 a0001c0015t0001 a0002c0001t0001 a0002c0005t0001 a0003c0007t0001 a0003c0010t0001 a0003c0016t0001 a0009c0014t0001 a0015c0020t0001	a0001c0002t0001g0011 a0001c0002t0001g0051 a0001c0002t0001g0053 others(75): Show a0001c0002t0001g0011 a0001c0002t0001g0051 a0001c0002t0001g0053 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0066 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0100 a0001c0002t0001g0111 a0001c0002t0001g0118 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0003t0001g0009 a0001c0003t0001g0010 a0001c0003t0001g0014 a0001c0003t0001g0015 a0001c0003t0001g0032 a0001c0003t0001g0050 a0001c0003t0001g0054 a0001c0003t0001g0060 a0001c0003t0001g0070 a0001c0003t0001g0072 a0001c0003t0001g0074 a0001c0003t0001g0081 a0001c0003t0001g0087 a0001c0003t0001g0097 a0001c0003t0001g0101 a0001c0003t0001g0104 a0001c0003t0001g0108 a0001c0003t0001g0109 a0001c0003t0001g0110 a0001c0003t0001g0119 a0001c0003t0001g0120 a0001c0003t0001g0121 a0001c0004t0001g0067 a0001c0004t0001g0302 a0001c0004t0001g0303 a0001c0006t0001g0012 a0001c0006t0001g0098 a0001c0006t0001g0099 a0001c0012t0001g0083 a0001c0012t0001g0084 a0001c0013t0001g0115 a0001c0015t0001g0012 a0002c0001t0001g0013 a0002c0001t0001g0061 a0002c0001t0001g0082 a0002c0001t0001g0085 a0002c0001t0001g0088 a0002c0001t0001g0106 a0002c0001t0001g0107 a0002c0001t0001g0112 a0002c0001t0001g0122 a0002c0001t0001g0125 a0002c0005t0001g0102 a0002c0005t0001g0103 a0002c0005t0001g0105 a0002c0005t0001g0116 a0003c0007t0001g0052 a0003c0007t0001g0071 a0003c0007t0001g0117 a0003c0007t0001g0123 a0003c0010t0001g0069 a0003c0010t0001g0080 a0003c0016t0001g0059 a0003c0016t0001g0068 a0009c0014t0001g0113 a0015c0020t0001g0073	84	350	0.2400	-126	c.111 others(17): Show c.111+3684_111+3809del	CFAP99	ENSG00000206113.12	transcript	ENST00000635017.2	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
CHMP1A_chr16_89639435_89662708	89647606	AGACCCAG others(119): Show AGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAG CGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01109.hp2 HG00099.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0068 a0001c0001t0003g0069	2	392	0.0051	-126	c.253 others(15): Show c.253-401_253-276del	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647749	GGTGGAGA others(119): Show GGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGA AAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCG CCGACGTGGAGACCCAGCGCGGGGTCC	G G	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	392	0.0026	-126	c.253 others(15): Show c.253-544_253-419del	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647858	AGACCCAG others(119): Show AGACCCAGCGCGGGGTCCGTGGAGAAAAGGCCGCCGACGTGGACACCCAG CGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03516.hp1 NA18522.hp1 HG01891.hp2 HG03516.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0133 a0001c0001t0006g0134 a0001c0001t0006g0135 a0001c0001t0006g0133 a0001c0001t0006g0134 a0001c0001t0006g0135	3	392	0.0077	-126	c.253 others(15): Show c.253-653_253-528del	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648278	AGACCCAG others(119): Show AGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAG CGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGG	A A	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	392	0.0026	-126	c.252 others(15): Show c.252+947_253-948del	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CLASP1_chr2_121332776_121654462	121384019	CACACACA others(119): Show CACACACACACACATATATATGTATATATACACACATATATGTATATATA CACACACACATATATATGTATATATACACACATATATATGTATATATATA TACACACATATATATGTATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	214	0.0047	-126	c.343 others(19): Show c.3438-1821_3438-1696del	CLASP1	ENSG00000074054.21	transcript	ENST00000696935.1	protein_coding	33/40			chr2	TogoVar
CLIC4_chr1_24740447_24849321	24833740	ACTGGCCG others(119): Show ACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCCCCCCCCCCC CCCCCGCCTCCCTCCCGGACGGGGCGG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03209.hp2 HG02723.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0097 a0001c0001t0004g0098 a0001c0001t0004g0097 a0001c0001t0004g0098	2	344	0.0058	-126	c.416 others(17): Show c.416-6050_416-5925del	CLIC4	ENSG00000169504.15	transcript	ENST00000374379.9	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CLUL1_chr18_591988_655182	596866	GGCGTCTG others(119): Show GGCGTCTGCAGGCCCCGCCCACCCGGCGTCACCTGCAGGCCCCGCCCACC CGGCGTCTGCAGGCCCCGCCCACCCGGCGTCACCTGCAGGCCCCGCCCAC CCGGCGTCTGCAGGCCCCGCCCACCCT	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00438.hp1 others(55): Show HG00099.hp2 HG00140.hp2 HG00438.hp1 HG00609.hp2 HG00733.hp1 HG01069.hp1 HG01071.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01192.hp1 HG01884.hp1 HG01975.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02132.hp1 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02451.hp1 HG02523.hp1 HG02735.hp1 HG02922.hp2 HG03041.hp1 HG03195.hp2 HG03453.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03834.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 NA18949.hp1 NA18955.hp1 NA18959.hp2 NA18969.hp1 NA18974.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA19004.hp1 NA19030.hp1 NA19060.hp1 NA19066.hp1 NA19076.hp2 NA19082.hp1 NA19088.hp2 NA20905.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0004c0010 a0001c0001 a0001c0004 a0004c0010	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0004t0003 a0004c0010t0002	a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 others(55): Show a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0112 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0347 a0001c0001t0002g0348 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0322 a0001c0001t0003g0343 a0001c0001t0003g0345 a0001c0001t0008g0023 a0001c0001t0008g0024 a0001c0004t0003g0344 a0004c0010t0002g0018	58	414	0.1401	-126	c.-39 others(9): Show c.-398_-273del	CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	1/10	21009		chr18	TogoVar
CNGA1_chr4_47930977_48021681	47976155	ATATATAT others(119): Show ATATATATATATATATACACATACATATATATATACATATATATGTATAT ATATATATACACATACATATATATATACATATATATGTATATATATATAC ACATACATATATATATACATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0118 a0001c0001t0002g0118	1	366	0.0027	-126	c.-15 others(17): Show c.-15+5112_-15+5237del	CNGA1	ENSG00000198515.16	transcript	ENST00000514170.7	protein_coding	3/10			chr4	TogoVar
CNTNAP2_chr7_146111801_148425998	146823054	TGGAAATA others(119): Show TGGAAATATACTCATTCTTCAGCATATTTACATGGAAATATACTCATTCT TCAGCATATTTACATGGAAATATACTCATTCTTCAGCATATTTACATGGA AATATACTCATTCTTCAGCATATTTAC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0010 a0001c0003t0013g0010	1	40	0.0250	-126	c.209 others(19): Show c.209-16656_209-16531del	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	2/23			chr7	TogoVar
COL6A2_chr21_46093112_46134801	46134527	CAGGTTTA others(119): Show CAGGTTTAGGGTGAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTGA GGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGGGTCAGGTTTAGGGTCAGG GTGAGGGTGAGGGTGAGGGTGAGGGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0067 a0002c0003t0006g0067	1	372	0.0027	-126	c.50 others(11): Show c.5037_*5162del	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4727		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134527	CAGGTTTA others(119): Show CAGGTTTAGGGTGAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTGA GGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGGGTCAGGTTTAGGGTCAGG GTGAGGGTGAGGGTGAGGGTGAGGGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0003 a0002c0013t0003	a0002c0013t0003g0069 a0002c0013t0003g0069	1	364	0.0028	-126	c.19 others(11): Show c.1976_*2101del	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1680		chr21	TogoVar
CSTPP1_chr11_46931761_47167247	47097324	TGGGGGGG others(119): Show TGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGG	T T	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG03942.hp2 HG01934.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0056 a0001c0001t0001g0019 a0001c0001t0001g0056	2	224	0.0089	-126	c.281 others(19): Show c.281-40320_281-40195del	CSTPP1	ENSG00000149179.14	transcript	ENST00000278460.12	protein_coding	3/8			chr11	TogoVar
CTDP1_chr18_79674803_79759503	79732490	CACATCAG others(119): Show CACATCAGGAGTGCTCCCAAAATCACGTGAGACATGAGAACTCACATCAG GAGTGCTCCCAAAATCACGTGAGACATGAGAACTCACATCAGGAGTGCTC CCAAAATCACGTGAGACATGAGAACTA	C C	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0344 a0001c0022t0001g0344	1	378	0.0027	-126	c.258 others(19): Show c.2580+3454_2580+3579del	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79733516	GCAGCTGC others(119): Show GCAGCTGCGTTACCTCGTTCCTGCCTGTTCTGCTGGGCCCCAAAGCCGGC GTCCGCTGCCTCTCCAGCTGCGTTACCTCGTTTCTGCGTGTTCTGCTGGG CCCCAAAGCTGGCGTCCGCTGCCTCTC	G G	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0090 a0002c0002t0001g0090	1	378	0.0027	-126	c.258 others(19): Show c.2581-2820_2581-2695del	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79752620	GGCTGGTT others(119): Show GGCTGGTTATGCAGAGGCTCGTAAGGAAAGCCTAGTGGCACCGGCTGGTT ATGCAGAGGCTCGTAAGGAAAGCCTAGTGGCACCGGCTGGTTATGCAGAG GCTCCTAAGGAAAGCCTAGTGGCACCC	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03453.hp2 HG02145.hp1 HG03453.hp2	a0001 a0001	a0001c0014 a0001c0037 a0001c0014 a0001c0037	a0001c0014t0001 a0001c0037t0001 a0001c0014t0001 a0001c0037t0001	a0001c0014t0001g0078 a0001c0037t0001g0079 a0001c0014t0001g0078 a0001c0037t0001g0079	2	378	0.0053	-126	c.274 others(18): Show c.2748-1012_2748-887del	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79752892	GTAAGGAA others(119): Show GTAAGGAAAGCCTAGTGGCACCGGCTGGTTATGCAGAGGCTCGTAAGGAA AGCCTAGTGGCACCGGCTGGTTATGCAGAGGCTCCTAAGGAAAGCCTAGT GGCACCGGCTGGTTATGCAGAGGCTCC	G G	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0101 a0001c0001t0008g0101	1	378	0.0027	-126	c.274 others(17): Show c.2748-718_2748-593del	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTIF_chr18_48534031_48868217	48730586	TGTGGTGT others(119): Show TGTGGTGTGAGGGGCTTCTGCTGTGTGAGGGGCTCCTGCGGTGTGAGGGG CCCCTGTGGTGTGAGGGGCTTCTGCGGTGTGAGGGGCTTCTGCGGTGTGA GGAGCCCCTGAGGTGTGAGGGGCTTCC	T T	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0046 a0001c0001t0007g0046	1	144	0.0069	-126	c.584 others(19): Show c.584+18893_584+19018del	CTIF	ENSG00000134030.14	transcript	ENST00000256413.8	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CYTH1_chr17_78669048_78787273	78760381	ATATACAC others(119): Show ATATACACACACATACATATATATATGTGTATATATATATATATACACAT ACATATATATATGTATATATATATACATACATATATATATGTATATATAT GTATGTATATATATATACATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00642.hp2 HG00735.hp1 others(15): Show HG00423.hp1 HG00642.hp2 HG00735.hp1 HG01070.hp1 HG01361.hp1 HG01433.hp1 HG02004.hp1 HG02040.hp2 HG02056.hp2 HG02080.hp1 HG02602.hp1 HG02630.hp2 HG02895.hp1 HG04199.hp2 NA18969.hp2 NA19011.hp2 NA19062.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008	a0001c0001t0001g0283 a0001c0001t0002g0261 a0001c0001t0002g0273 others(15): Show a0001c0001t0001g0283 a0001c0001t0002g0261 a0001c0001t0002g0273 a0001c0001t0002g0282 a0001c0001t0002g0284 a0001c0001t0002g0300 a0001c0001t0002g0302 a0001c0001t0002g0309 a0001c0001t0002g0314 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0003g0370 a0001c0001t0003g0373 a0001c0001t0006g0338 a0001c0001t0006g0343 a0001c0001t0006g0347 a0001c0001t0008g0270 a0001c0001t0008g0303	18	378	0.0476	-126	c.22+ others(17): Show c.22+21695_22+21820del	CYTH1	ENSG00000108669.18	transcript	ENST00000446868.8	protein_coding	1/13			chr17	TogoVar
DCAKD_chr17_45018344_45056632	45051948	CGCGGGAG others(119): Show CGCGGGAGAGGTTGGGCGGGCGGGCGGACGCGGGAGAGGTTGGGCGGGCG GGCGGACGCGGGAGAGGTTGGGCGGGCGGGCGGACGCGGGAGAGGTTGGG CGGGCGGGCGGACGCGGGAGAGGTTGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0243 a0001c0001t0040g0243	1	408	0.0025	-126	c.-82 others(9): Show c.-828_-703del	DCAKD	ENSG00000172992.13	transcript	ENST00000651974.1	protein_coding		317		chr17	TogoVar
DECR2_chr16_396885_417482	408055	CCCTCTGT others(119): Show CCCTCTGTCTCCGGGCCCCTGTCTCCGGGCCCCTGTCTCCAGCCCCCTGT CTCCGGACCTCTGTCTCCGGGCCCCTGTCTCCGGGCCTCTGTCTCCGGCC CCCTGTCTCCGGGCCTCTGTCTCCGGG	C C	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02300.hp2 HG02071.hp1 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	2	367	0.0055	-126	c.337 others(15): Show c.337+509_337+634del	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
DENND5A_chr11_9133825_9270350	9220908	GTGTGTGT others(119): Show GTGTGTGTACACACACACACATAAATTAGCCAGGCATAGTGGCGGGTGCC TGTAGACTCAGCTACTTGGGAGGCTGAGGTGGGAGGACTGCTTGAGCCCA GGAGGCAGAGGTTGCCGTGAGCCGAGA	G G	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03130.hp1 HG02965.hp1 HG03130.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0003t0001g0026 a0001c0003t0001g0027	2	284	0.0070	-126	c.110 others(19): Show c.110-13402_110-13277del	DENND5A	ENSG00000184014.9	transcript	ENST00000328194.8	protein_coding	1/22			chr11	TogoVar
DGKB_chr7_14140049_14907751	14211812	TTTTACTC others(119): Show TTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTC TCATGTTTTGTGATTTTACTCTCGTGTTTTGTGATTTTACTCTCATGTTT TGTGATATTTACTCTCATGTTTTGTGA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0036 a0001c0003t0036	a0001c0003t0036g0050 a0001c0003t0036g0050	1	148	0.0068	-126	c.212 others(21): Show c.2123-33787_2123-33662del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14211833	TTTTACTC others(119): Show TTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTC TCGTGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTT TTGTGATTTTACTCTCGTGTTTTGTGA	T T	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0142 a0001c0001t0004g0142	1	148	0.0068	-126	c.212 others(21): Show c.2123-33808_2123-33683del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14212206	GTGTTTTG others(119): Show GTGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTG TGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTA CTCTCATGTTTTGTGATTTTACTCTCA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA18612.hp1 HG02145.hp1 NA18612.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0007 a0001c0003 a0002c0007	a0001c0003t0036 a0002c0007t0006 a0001c0003t0036 a0002c0007t0006	a0001c0003t0036g0050 a0002c0007t0006g0030 a0001c0003t0036g0050 a0002c0007t0006g0030	2	148	0.0135	-126	c.212 others(21): Show c.2123-34181_2123-34056del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKH_chr13_42043648_42247896	42181816	CTGCTGGC others(119): Show CTGCTGGCAGCTGAGCTGCTGGTGCTGGCAGCTGAGCTGCTGGTGCTGGC AGCTGAGCTGCTGGTGCTGGCAGCTGAGCTGCTGGTGCTGGCAGCTGAGC TGCTGGTGCTGGCAGCTGAGCTGCTGG	C C	intron_variant intron_variant	MODIFIER	HG04199.hp2 NA18963.hp1 NA19058.hp2 others(1): Show HG04199.hp2 NA18963.hp1 NA19058.hp2 NA19064.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0010 a0001c0002 a0001c0004 a0001c0010	a0001c0002t0001 a0001c0002t0005 a0001c0004t0055 others(1): Show a0001c0002t0001 a0001c0002t0005 a0001c0004t0055 a0001c0010t0050	a0001c0002t0001g0127 a0001c0002t0005g0228 a0001c0004t0055g0185 others(1): Show a0001c0002t0001g0127 a0001c0002t0005g0228 a0001c0004t0055g0185 a0001c0010t0050g0301	4	316	0.0127	-126	c.153 others(19): Show c.1538+3772_1538+3897del	DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	13/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
DLC1_chr8_13078361_13519851	13453389	TATATATA others(119): Show TATATATATATATGTGTATATATATATATATATATGTGTATATATATATG TATATATATACATATATATATGTATATATATACATATATATGTATATATA TACATATATATATGTATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02109.hp1 HG02165.hp2 others(3): Show HG01109.hp2 HG02109.hp1 HG02165.hp2 HG02257.hp1 HG02523.hp2 NA18612.hp2	a0004 a0005 a0006 others(1): Show a0004 a0005 a0006 a0018	a0004c0005 a0005c0008 a0006c0007 others(1): Show a0004c0005 a0005c0008 a0006c0007 a0018c0033	a0004c0005t0002 a0005c0008t0001 a0006c0007t0017 others(2): Show a0004c0005t0002 a0005c0008t0001 a0006c0007t0017 a0006c0007t0045 a0018c0033t0011	a0004c0005t0002g0180 a0005c0008t0001g0116 a0005c0008t0001g0182 others(3): Show a0004c0005t0002g0180 a0005c0008t0001g0116 a0005c0008t0001g0182 a0006c0007t0017g0030 a0006c0007t0045g0036 a0018c0033t0011g0065	6	212	0.0283	-126	c.102 others(21): Show c.1023+45534_1023+45659del	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	2/17			chr8	TogoVar
DLGAP2_chr8_732628_1713476	1017240	GTGTGTGA others(119): Show GTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGAC GATGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTG TGTGACCAGGACAGACGACGCCTCCAC	G G	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0018 a0002c0001t0001g0018	1	40	0.0250	-126	c.73+ others(19): Show c.73+109281_73+109406del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAH9_chr17_11593470_11974748	11694647	TCGCTTTC others(119): Show TCGCTTTCTCGCTTTCTCGCTTTCTCGCTTTCTCGCTTTCTCGCTTTCTC GCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTCTTTCTTTCTTTCTT TCTTTCCTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02572.hp1 HG03471.hp1 HG02257.hp1 HG02572.hp1 HG03471.hp1	a0001 a0004 a0034 a0001 a0004 a0034	a0001c0127 a0004c0128 a0034c0063 a0001c0127 a0004c0128 a0034c0063	a0001c0127t0001 a0004c0128t0001 a0034c0063t0001 a0001c0127t0001 a0004c0128t0001 a0034c0063t0001	a0001c0127t0001g0052 a0004c0128t0001g0156 a0034c0063t0001g0118 a0001c0127t0001g0052 a0004c0128t0001g0156 a0034c0063t0001g0118	3	178	0.0169	-126	c.487 others(17): Show c.4872+201_4872+326del	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	22/68			chr17	TogoVar

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