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
CBX4_chr17_79828156_79844440	79831124	G G	GTCTAGGG others(20): Show GTCTAGGGACAGACGGGGTCTCGGACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG03225.hp1 HG02976.hp1 HG03225.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0016 a0003c0003t0001g0016	2	415	0.0048	27	c.28 others(38): Show c.2834_*2835insGGGTCCGAGACCCCGTCTGTCCCTAGA	CBX4	ENSG00000141582.15	transcript	ENST00000269397.9	protein_coding		2031		chr17	TogoVar
CBX4_chr17_79828156_79844440	79831124	G G	GTCTAGGG others(20): Show GTCTAGGGACAGAGGGGGTCTCGGACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG03209.hp1 HG03453.hp2 HG02615.hp2 HG03209.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0052 a0001c0001t0001g0005 a0001c0001t0001g0052	3	416	0.0072	27	c.28 others(38): Show c.2834_*2835insGGGTCCGAGACCCCCTCTGTCCCTAGA	CBX4	ENSG00000141582.15	transcript	ENST00000269397.9	protein_coding		2031		chr17	TogoVar
CBX4_chr17_79828156_79844440	79831150	C C	CCTCTAGG others(20): Show CCTCTAGGGACAGAGGGGGTCTCGGACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	360	0.0028	27	c.28 others(38): Show c.2808_*2809insTGTCCGAGACCCCCTCTGTCCCTAGAG	CBX4	ENSG00000141582.15	transcript	ENST00000269397.9	protein_coding		2005		chr17	TogoVar
CBX4_chr17_79828156_79844440	79831186	A A	ACAGAGGG others(20): Show ACAGAGGGGGTCTCGGACACTCTAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 NA19005.hp1 NA19090.hp2 HG04199.hp1 NA19005.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0005 a0001c0005t0001 a0001c0001t0001 a0001c0001t0005 a0001c0005t0001	a0001c0001t0001g0001 a0001c0001t0005g0126 a0001c0005t0001g0014 a0001c0001t0001g0001 a0001c0001t0005g0126 a0001c0005t0001g0014	3	414	0.0072	27	c.27 others(38): Show c.2772_*2773insCCCCTAGAGTGTCCGAGACCCCCTCTG	CBX4	ENSG00000141582.15	transcript	ENST00000269397.9	protein_coding		1969		chr17	TogoVar
CCDC102B_chr18_68793080_69060189	69009924	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp2 HG00741.hp1 others(18): Show HG00544.hp1 HG00558.hp2 HG00741.hp1 HG02155.hp1 HG02155.hp2 HG02293.hp2 HG02735.hp2 HG03017.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp1 NA18522.hp1 NA18941.hp1 NA18956.hp1 NA18965.hp2 NA18969.hp2 NA18971.hp2 NA18992.hp1 NA19002.hp2 NA19004.hp2 NA19090.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0006 a0012 a0016	a0001c0001 a0001c0003 a0002c0002 others(6): Show a0001c0001 a0001c0003 a0002c0002 a0002c0005 a0002c0009 a0003c0004 a0006c0012 a0012c0014 a0016c0037	a0001c0001t0001 a0001c0001t0008 a0001c0003t0001 others(8): Show a0001c0001t0001 a0001c0001t0008 a0001c0003t0001 a0002c0002t0001 a0002c0005t0001 a0002c0009t0001 a0003c0004t0001 a0003c0004t0009 a0006c0012t0001 a0012c0014t0001 a0016c0037t0001	a0001c0001t0001g0051 a0001c0001t0001g0122 a0001c0001t0001g0156 others(18): Show a0001c0001t0001g0051 a0001c0001t0001g0122 a0001c0001t0001g0156 a0001c0001t0001g0175 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0008g0036 a0001c0003t0001g0106 a0001c0003t0001g0141 a0002c0002t0001g0029 a0002c0002t0001g0054 a0002c0002t0001g0132 a0002c0002t0001g0179 a0002c0005t0001g0182 a0002c0009t0001g0107 a0002c0009t0001g0118 a0003c0004t0001g0033 a0003c0004t0009g0174 a0006c0012t0001g0197 a0012c0014t0001g0086 a0016c0037t0001g0008	21	34	0.6176	27	c.126 others(44): Show c.1264-985_1264-984insTTTTTTTTTTTTTTTTTTTTTTTTTTT	CCDC102B	ENSG00000150636.17	transcript	ENST00000360242.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
CCDC110_chr4_185440182_185476733	185443342	A A	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0278 a0002c0004t0001g0278	1	63	0.0159	27	c.21 others(38): Show c.2159_*2160insAAAAATATATATATATATATATATATA	CCDC110	ENSG00000168491.10	transcript	ENST00000307588.8	protein_coding		1839		chr4	TogoVar
CCDC110_chr4_185440182_185476733	185443342	A A	ATATATAT others(20): Show ATATATATATATTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0170 a0002c0002t0001g0170	1	63	0.0159	27	c.21 others(38): Show c.2159_*2160insAAAAAAAAAAAAAAAAATATATATATA	CCDC110	ENSG00000168491.10	transcript	ENST00000307588.8	protein_coding		1839		chr4	TogoVar
CCDC120_chrX_49053999_49074854	49060427	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	19	0.0526	27	c.-84 others(44): Show c.-84+1334_-84+1360dupAAAAAAAAAAAAAAAAAAAAAAAAAAA	CCDC120	ENSG00000147144.13	transcript	ENST00000603986.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
CCDC125_chr5_69275175_69337801	69334793	G G	GGAAGAGA others(20): Show GGAAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0116 a0002c0002t0007g0116	1	146	0.0068	27	c.-21 others(38): Show c.-2186_-2185insTCTCTCTCTCTCTCTCTCTCTCTCTTC	CCDC125	ENSG00000183323.13	transcript	ENST00000396496.7	protein_coding		1993		chr5	TogoVar
CCDC12_chr3_46916730_46981745	46951798	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA19085.hp2 NA18988.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0251 a0001c0001t0002g0265 a0001c0001t0002g0251 a0001c0001t0002g0265	2	44	0.0455	27	c.97- others(44): Show c.97-10734_97-10733insATATATATATTTTTTTTTTTTTTTTTT	CCDC12	ENSG00000160799.12	transcript	ENST00000683445.1	protein_coding	1/6			chr3	TogoVar
CCDC12_chr3_46916730_46981745	46951798	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02004.hp1 HG03942.hp1 others(2): Show HG01981.hp1 HG02004.hp1 HG03942.hp1 NA18964.hp2 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0180 a0001c0001t0002g0229 a0001c0001t0002g0244 others(2): Show a0001c0001t0002g0180 a0001c0001t0002g0229 a0001c0001t0002g0244 a0001c0001t0002g0250 a0001c0001t0002g0263	5	47	0.1064	27	c.97- others(44): Show c.97-10734_97-10733insATATATATATATTTTTTTTTTTTTTTT	CCDC12	ENSG00000160799.12	transcript	ENST00000683445.1	protein_coding	1/6			chr3	TogoVar
CCDC12_chr3_46916730_46981745	46951798	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02559.hp2 HG03130.hp2 others(3): Show HG01928.hp1 HG02559.hp2 HG03130.hp2 NA18942.hp1 NA18948.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0327 a0001c0001t0001g0343 a0001c0001t0001g0344 others(3): Show a0001c0001t0001g0327 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0002g0156 a0001c0001t0002g0161 a0001c0001t0002g0225	6	48	0.1250	27	c.97- others(44): Show c.97-10734_97-10733insATATATATATATATTTTTTTTTTTTTT	CCDC12	ENSG00000160799.12	transcript	ENST00000683445.1	protein_coding	1/6			chr3	TogoVar
CCDC12_chr3_46916730_46981745	46951798	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0227 a0001c0001t0002g0227	1	43	0.0233	27	c.97- others(44): Show c.97-10734_97-10733insATATATATATATATATTTTTTTTTTTT	CCDC12	ENSG00000160799.12	transcript	ENST00000683445.1	protein_coding	1/6			chr3	TogoVar
CCDC136_chr7_128786968_128827130	128796739	A A	ATATATAT others(20): Show ATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0194 a0001c0001t0002g0194	1	292	0.0034	27	c.346 others(44): Show c.346+1972_346+1973insATATATATATATATATATTTTTTTTTT	CCDC136	ENSG00000128596.17	transcript	ENST00000297788.9	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
CCDC138_chr2_108781771_108881578	108811247	C C	CTCTTTTT others(20): Show CTCTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0001 a0008c0015t0001	a0008c0015t0001g0193 a0008c0015t0001g0193	1	31	0.0323	27	c.856 others(44): Show c.856-1383_856-1382insCTTTTTTTTTTTTTTTTTTTTTTTTTT	CCDC138	ENSG00000163006.12	transcript	ENST00000295124.9	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
CCDC138_chr2_108781771_108881578	108853970	A A	ATATATAA others(20): Show ATATATAATATATAATATATAATAAATT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0133 a0002c0002t0001g0133	1	217	0.0046	27	c.151 others(46): Show c.1517-2818_1517-2792dupAATATATAATATATAATAAATTTATA T	CCDC138	ENSG00000163006.12	transcript	ENST00000295124.9	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
CCDC138_chr2_108781771_108881578	108853976	A A	AATATATA others(20): Show AATATATAATATATAATAAATTTATATT	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA19030.hp1 NA19030.hp2 HG02040.hp2 NA19030.hp1 NA19030.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0005 a0002c0002 a0003c0003 a0001c0005 a0002c0002 a0003c0003	a0001c0005t0001 a0002c0002t0001 a0003c0003t0001 a0001c0005t0001 a0002c0002t0001 a0003c0003t0001	a0001c0005t0001g0114 a0002c0002t0001g0171 a0003c0003t0001g0139 a0001c0005t0001g0114 a0002c0002t0001g0171 a0003c0003t0001g0139	3	83	0.0361	27	c.151 others(46): Show c.1517-2756_1517-2730dupATATATAATAAATTTATATTATATAT A	CCDC138	ENSG00000163006.12	transcript	ENST00000295124.9	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
CCDC141_chr2_178824757_179055137	178870231	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02004.hp1 NA19007.hp2 HG02004.hp1 NA19007.hp2	a0001 a0002 a0001 a0002	a0001c0016 a0002c0006 a0001c0016 a0002c0006	a0001c0016t0006 a0002c0006t0006 a0001c0016t0006 a0002c0006t0006	a0001c0016t0006g0039 a0002c0006t0006g0254 a0001c0016t0006g0039 a0002c0006t0006g0254	2	51	0.0392	27	c.220 others(44): Show c.2206-927_2206-926insTTTTTTTTTTTTTTTTTTTTTTTTTTT	CCDC141	ENSG00000163492.16	transcript	ENST00000443758.7	protein_coding	14/23			chr2	TogoVar
CCDC144A_chr17_16685241_16782881	16711136	G G	GAAAAAAA others(20): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	152	0.0066	27	c.157 others(44): Show c.1579-521_1579-520insAAAAAAAAAAAAAAAAAAAAAAAAAAA	CCDC144A	ENSG00000170160.19	transcript	ENST00000399273.5	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC146_chr7_77117615_77300204	77180085	A A	ATACCATA others(20): Show ATACCATATATATGCACCCATATGTATG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(52): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00438.hp1 HG00609.hp1 HG01070.hp2 HG01081.hp2 HG01099.hp2 HG01192.hp1 HG01361.hp1 HG01928.hp1 HG01981.hp2 HG02027.hp1 HG02056.hp2 HG02129.hp1 HG02132.hp1 HG02155.hp1 HG02273.hp2 HG02300.hp1 HG02735.hp2 HG02897.hp1 HG03139.hp2 HG03453.hp1 HG03516.hp1 HG03669.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18939.hp2 NA18948.hp1 NA18948.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp2 NA18965.hp1 NA18969.hp1 NA18971.hp2 NA18989.hp2 NA18994.hp2 NA19003.hp2 NA19004.hp1 NA19007.hp1 NA19060.hp2 NA19062.hp2 NA19068.hp1 NA19076.hp1 NA19080.hp2 NA19086.hp1 NA19088.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0008	a0001c0001 a0001c0006 a0001c0008 others(6): Show a0001c0001 a0001c0006 a0001c0008 a0001c0021 a0001c0031 a0002c0002 a0002c0009 a0005c0012 a0008c0024	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0001c0008t0003 a0001c0021t0002 a0001c0031t0001 a0002c0002t0001 a0002c0002t0002 a0002c0009t0002 a0005c0012t0001 a0008c0024t0001	a0001c0001t0001g0172 a0001c0001t0001g0203 a0001c0001t0002g0100 others(51): Show a0001c0001t0001g0172 a0001c0001t0001g0203 a0001c0001t0002g0100 a0001c0001t0002g0113 a0001c0001t0002g0127 a0001c0001t0002g0202 a0001c0006t0001g0107 a0001c0006t0001g0186 a0001c0008t0003g0201 a0001c0021t0002g0108 a0001c0031t0001g0059 a0002c0002t0001g0001 a0002c0002t0001g0075 a0002c0002t0001g0087 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0162 a0002c0002t0001g0165 a0002c0002t0001g0167 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0176 a0002c0002t0001g0179 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0194 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0221 a0002c0002t0002g0064 a0002c0002t0002g0174 a0002c0002t0002g0177 a0002c0002t0002g0178 a0002c0002t0002g0180 a0002c0002t0002g0181 a0002c0009t0002g0238 a0005c0012t0001g0217 a0008c0024t0001g0060 a0008c0024t0001g0067	55	143	0.3846	27	c.156 others(46): Show c.156+12414_156+12440dupCATATGTATGTACCATATATATGCAC C	CCDC146	ENSG00000135205.15	transcript	ENST00000285871.5	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
CCDC146_chr7_77117615_77300204	77180246	T T	TGTACCAT others(20): Show TGTACCATATATATGCACCCATATGTAC	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0196 a0002c0002t0001g0196	1	246	0.0041	27	c.156 others(46): Show c.156+12440_156+12441insCATATGTACGTACCATATATATGCAC C	CCDC146	ENSG00000135205.15	transcript	ENST00000285871.5	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
CCDC154_chr16_1429383_1449556	1440500	G G	GAAGAGAA others(20): Show GAAGAGAAGAGAAGAGAAGAGAACAGAA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG03195.hp2 NA18522.hp1 HG01978.hp1 HG03195.hp2 NA18522.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0004 a0005c0008t0004	a0005c0008t0004g0044 a0005c0008t0004g0180 a0005c0008t0004g0044 a0005c0008t0004g0180	3	379	0.0079	27	c.676 others(44): Show c.676-1375_676-1374insTTCTGTTCTCTTCTCTTCTCTTCTCTT	CCDC154	ENSG00000197599.13	transcript	ENST00000389176.4	protein_coding	6/16			chr16	TogoVar
CCDC175_chr14_59500067_59581812	59502750	A A	ATTTTTGT others(20): Show ATTTTTGTTTTTTTTTTTTTGTTTTTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02622.hp1 HG03471.hp1 others(1): Show HG02109.hp1 HG02622.hp1 HG03471.hp1 HG03579.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0168 a0001c0004t0001g0214 a0001c0004t0001g0215 others(1): Show a0001c0004t0001g0168 a0001c0004t0001g0214 a0001c0004t0001g0215 a0001c0004t0001g0219	4	274	0.0146	27	c.24 others(38): Show c.2488_*2489insACAAAAACAAAAAAAAAAAAACAAAAA	CCDC175	ENSG00000151838.12	transcript	ENST00000537690.7	protein_coding		2316		chr14	TogoVar
CCDC175_chr14_59500067_59581812	59502750	A A	ATTTTTTT others(20): Show ATTTTTTTTTTGTTTTGTTTTGTTTTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0011 a0011	a0011c0018 a0011c0018	a0011c0018t0001 a0011c0018t0001	a0011c0018t0001g0145 a0011c0018t0001g0145	1	271	0.0037	27	c.24 others(38): Show c.2488_*2489insACAAAACAAAACAAAACAAAAAAAAAA	CCDC175	ENSG00000151838.12	transcript	ENST00000537690.7	protein_coding		2316		chr14	TogoVar
CCDC178_chr18_32932406_33445721	33096326	A A	AAAAATAT others(20): Show AAAAATATAAAATTTTTATATTTTATAT	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0001 a0010c0012t0001	a0010c0012t0001g0054 a0010c0012t0001g0054	1	56	0.0179	27	c.223 others(46): Show c.2239-3443_2239-3417dupATATAAAATATAAAAATTTTATATTT T	CCDC178	ENSG00000166960.17	transcript	ENST00000383096.8	protein_coding	20/22			chr18	TogoVar
CCDC178_chr18_32932406_33445721	33379164	C C	CATATATA others(20): Show CATATATATATAATATATATATTTCCAT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0055 a0003c0003t0001g0055	1	56	0.0179	27	c.209 others(44): Show c.209-8976_209-8975insATGGAAATATATATATTATATATATAT	CCDC178	ENSG00000166960.17	transcript	ENST00000383096.8	protein_coding	5/22			chr18	TogoVar
CCDC179_chr11_22841922_22865474	22850976	A A	ATATATAT others(20): Show ATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0008 a0002c0002t0002g0008	1	77	0.0130	27	c.196 others(44): Show c.196-3456_196-3455insAAAAAAAAAAAAAAAAATATATATATA	CCDC179	ENSG00000255359.3	transcript	ENST00000532798.3	protein_coding	3/3			chr11	TogoVar
CCDC192_chr5_127698391_127946507	127884342	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18975.hp1 NA19077.hp2 NA18963.hp1 NA18975.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0059 a0001c0001t0001g0079 a0001c0001t0001g0080	3	113	0.0265	27	c.535 others(44): Show c.535+8682_535+8708dupAAAAAAAAAAAAAAAAAAAAAAAAAAA	CCDC192	ENSG00000230561.7	transcript	ENST00000514853.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
CCDC194_chr19_17382196_17399196	17382272	A A	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG01884.hp2 HG00673.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0001 a0001c0001t0018g0036 a0001c0001t0001g0001 a0001c0001t0018g0036	2	383	0.0052	27	c.82 others(38): Show c.8236_*8237insCTTTCTTTCTTTCTTTCTTTCTTTCTT	CCDC194	ENSG00000269720.3	transcript	ENST00000636079.2	protein_coding		4923		chr19	TogoVar
CCDC194_chr19_17382196_17399196	17382276	A A	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00733.hp1 HG00733.hp2 others(8): Show HG00408.hp2 HG00733.hp1 HG00733.hp2 HG01192.hp2 HG02273.hp2 HG02976.hp1 HG03927.hp1 HG03927.hp2 NA18943.hp1 NA18994.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0013 a0002c0002t0020 a0001c0001t0001 a0001c0001t0013 a0002c0002t0020	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0109 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0109 a0001c0001t0013g0100 a0002c0002t0020g0029	11	165	0.0667	27	c.82 others(38): Show c.8232_*8233insCTTTCTTTCTTTCTTTCTTTCTTTCTT	CCDC194	ENSG00000269720.3	transcript	ENST00000636079.2	protein_coding		4919		chr19	TogoVar
CCDC194_chr19_17382196_17399196	17382313	A A	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0003	1	412	0.0024	27	c.81 others(38): Show c.8195_*8196insCTTTCTTTCTTTCTTTCTTTCTTTCTT	CCDC194	ENSG00000269720.3	transcript	ENST00000636079.2	protein_coding		4882		chr19	TogoVar
CCDC200_chr17_43216420_43233623	43225677	A A	AAGTATAT others(20): Show AAGTATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00738.hp2 HG01928.hp2 others(14): Show HG00639.hp2 HG00738.hp2 HG01928.hp2 HG02273.hp1 HG02523.hp1 NA18945.hp1 NA18945.hp2 NA18956.hp1 NA18959.hp1 NA18960.hp1 NA18974.hp2 NA18983.hp1 NA19002.hp2 NA19067.hp2 NA19070.hp1 NA19088.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0030 a0001c0001t0002g0192 others(1): Show a0001c0001t0002g0002 a0001c0001t0002g0030 a0001c0001t0002g0192 a0001c0001t0002g0193	17	214	0.0794	27	c.106 others(44): Show c.106-1129_106-1128insATATATATATATATATATATATATACT	CCDC200	ENSG00000236383.9	transcript	ENST00000636331.2	protein_coding	1/3			chr17	TogoVar
CCDC34_chr11_27333512_27368215	27356907	T T	TGGGGGGT others(20): Show TGGGGGGTGGTGGGGTGGGGTGGGGTTG	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	356	0.0028	27	c.498 others(42): Show c.498+495_498+496insCAACCCCACCCCACCCCACCACCCCCC	CCDC34	ENSG00000109881.17	transcript	ENST00000328697.11	protein_coding	2/5			chr11	TogoVar
CCDC38_chr12_95862048_95947614	95908636	A A	AGAGGGAG others(20): Show AGAGGGAGAGGGAGAGGGAGAGGGAGAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02132.hp1 HG02280.hp1 others(4): Show HG01884.hp1 HG02132.hp1 HG02280.hp1 HG02970.hp1 NA18906.hp2 NA18943.hp1 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0004c0009	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0005t0001 a0002c0003t0002 a0004c0009t0003	a0001c0001t0001g0160 a0001c0002t0001g0231 a0001c0002t0003g0018 others(4): Show a0001c0001t0001g0160 a0001c0002t0001g0231 a0001c0002t0003g0018 a0001c0005t0001g0078 a0001c0005t0001g0088 a0002c0003t0002g0315 a0004c0009t0003g0015	7	58	0.1207	27	c.305 others(44): Show c.305-2186_305-2185insCTCTCCCTCTCCCTCTCCCTCTCCCTC	CCDC38	ENSG00000165972.13	transcript	ENST00000344280.8	protein_coding	4/15			chr12	TogoVar
CCDC40_chr17_80031642_80105613	80056016	A A	ATATATAT others(20): Show ATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01071.hp1 HG01071.hp2 others(1): Show HG00642.hp2 HG01071.hp1 HG01071.hp2 HG03688.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0011 a0001c0002 a0001c0003 a0001c0011	a0001c0002t0003 a0001c0003t0001 a0001c0011t0001 a0001c0002t0003 a0001c0003t0001 a0001c0011t0001	a0001c0002t0003g0177 a0001c0003t0001g0154 a0001c0003t0001g0155 others(1): Show a0001c0002t0003g0177 a0001c0003t0001g0154 a0001c0003t0001g0155 a0001c0011t0001g0223	4	25	0.1600	27	c.116 others(46): Show c.1160-2477_1160-2476insATATATATATATATATTTTTTTTTTT T	CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC40_chr17_80031642_80105613	80056016	A A	ATATATAT others(20): Show ATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0152 a0001c0003t0001g0152	1	22	0.0455	27	c.116 others(46): Show c.1160-2477_1160-2476insATATATATATATATTTTTTTTTTTTT T	CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC40_chr17_80031642_80105613	80056016	A A	ATATATAT others(20): Show ATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0185 a0001c0003t0001g0185	1	22	0.0455	27	c.116 others(46): Show c.1160-2477_1160-2476insATATATATATTTTTTTTTTTTTTTTT T	CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC40_chr17_80031642_80105613	80090401	C C	CAACACGG others(20): Show CAACACGGGACGCGCAGGCACGTGCACG	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0002 a0001c0025t0002	a0001c0025t0002g0229 a0001c0025t0002g0229	1	244	0.0041	27	c.283 others(44): Show c.2832+522_2832+523insGGGACGCGCAGGCACGTGCACGAACAC	CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC60_chr12_119329729_119546040	119481964	C C	CATATATA others(20): Show CATATATATATAGTATATATATGTATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01074.hp1 HG01167.hp2 others(6): Show HG00639.hp2 HG01074.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01934.hp2 HG02055.hp1 HG02257.hp2 HG02559.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004	a0001c0001t0001g0072 a0001c0001t0001g0078 a0001c0001t0001g0079 others(6): Show a0001c0001t0001g0072 a0001c0001t0001g0078 a0001c0001t0001g0079 a0002c0002t0001g0185 a0002c0002t0003g0035 a0002c0002t0003g0170 a0002c0002t0004g0086 a0002c0002t0004g0226 a0002c0002t0004g0227	9	248	0.0363	27	c.449 others(44): Show c.449+2770_449+2796dupATATAGTATATATATGTATATATATAT	CCDC60	ENSG00000183273.7	transcript	ENST00000327554.3	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC60_chr12_119329729_119546040	119482009	A A	ATATATAT others(20): Show ATATATATGTATATATATGTATATATAG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03209.hp1 HG02145.hp2 HG03209.hp1	a0001 a0014 a0001 a0014	a0001c0001 a0014c0017 a0001c0001 a0014c0017	a0001c0001t0001 a0014c0017t0009 a0001c0001t0001 a0014c0017t0009	a0001c0001t0001g0080 a0014c0017t0009g0144 a0001c0001t0001g0080 a0014c0017t0009g0144	2	246	0.0081	27	c.449 others(44): Show c.449+2815_449+2816insGTATATATATGTATATATAGTATATAT	CCDC60	ENSG00000183273.7	transcript	ENST00000327554.3	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC65_chr12_48899133_48926576	48912437	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	17	0.0588	27	c.301 others(44): Show c.301-1944_301-1943insAAAAAAAAAAAAAAAAAAAAAAAAAAA	CCDC65	ENSG00000139537.11	transcript	ENST00000320516.5	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC66_chr3_56552175_56626837	56556842	G G	GGGGGGGG others(20): Show GGGGGGGGGGGGGGGGGGGGGGGGGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0054 a0002c0002t0002g0054	1	109	0.0092	27	c.-40 others(36): Show c.-401_-400insGGGGGGGGGGGGGGGGGGGGGGGGTGT	CCDC66	ENSG00000180376.17	transcript	ENST00000394672.8	protein_coding		332		chr3	TogoVar
CCDC66_chr3_56552175_56626837	56556842	G G	GGGGGGGG others(20): Show GGGGGGGGGGGGGGGGGGGGGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0062 a0002c0002t0002g0062	1	109	0.0092	27	c.-40 others(36): Show c.-401_-400insGGGGGGGGGGGGGGGGGGGGTGTGTGT	CCDC66	ENSG00000180376.17	transcript	ENST00000394672.8	protein_coding		332		chr3	TogoVar
CCDC66_chr3_56552175_56626837	56556842	G G	GGGGGTGG others(20): Show GGGGGTGGGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0016 a0002c0002t0002g0016	1	109	0.0092	27	c.-40 others(36): Show c.-401_-400insGGGGTGGGTGTGTGTGTGTGTGTGTGT	CCDC66	ENSG00000180376.17	transcript	ENST00000394672.8	protein_coding		332		chr3	TogoVar
CCDC66_chr3_56552175_56626837	56556842	G G	GGGGGTGT others(20): Show GGGGGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG01891.hp2 HG02027.hp2 others(2): Show HG00323.hp2 HG01891.hp2 HG02027.hp2 NA18612.hp1 NA18980.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0001c0001t0001 a0001c0001t0002 a0002c0002t0002	a0001c0001t0001g0002 a0001c0001t0001g0032 a0001c0001t0001g0110 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0032 a0001c0001t0001g0110 a0001c0001t0002g0001 a0002c0002t0002g0042	5	113	0.0442	27	c.-40 others(36): Show c.-401_-400insGGGGTGTGTGTGTGTGTGTGTGTGTGT	CCDC66	ENSG00000180376.17	transcript	ENST00000394672.8	protein_coding		332		chr3	TogoVar
CCDC66_chr3_56552175_56626837	56556842	G G	GGGTGTGT others(20): Show GGGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG02647.hp1 HG01109.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0024 a0001c0001t0009g0107 a0001c0001t0001g0024 a0001c0001t0009g0107	2	110	0.0182	27	c.-40 others(36): Show c.-401_-400insGGTGTGTGTGTGTGTGTGTGTGTGTGT	CCDC66	ENSG00000180376.17	transcript	ENST00000394672.8	protein_coding		332		chr3	TogoVar
CCDC66_chr3_56552175_56626837	56597777	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0005 a0004c0007t0005	a0004c0007t0005g0204 a0004c0007t0005g0204	1	11	0.0909	27	c.140 others(46): Show c.1404+3764_1404+3765insTTTTTTTTTTTTTTTTTTTTTTTTTT T	CCDC66	ENSG00000180376.17	transcript	ENST00000394672.8	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
CCDC6_chr10_59783747_59911556	59882601	A A	AAAGCCGG others(20): Show AAAGCCGGGGAGAAGGAAAGCCAGGGAG	intron_variant intron_variant	MODIFIER	HG01070.hp1 NA18944.hp2 HG01070.hp1 NA18944.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0004 a0001c0003 a0002c0004	a0001c0003t0003 a0002c0004t0001 a0001c0003t0003 a0002c0004t0001	a0001c0003t0003g0188 a0002c0004t0001g0039 a0001c0003t0003g0188 a0002c0004t0001g0039	2	254	0.0079	27	c.303 others(46): Show c.303+23520_303+23521insCTCCCTGGCTTTCCTTCTCCCCGGCT T	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCDC74A_chr2_131522888_131538666	131532138	A A	ACAGCCTG others(20): Show ACAGCCTGCCTTTGGAGGGCACTAGGCC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0122 a0001c0001t0002g0122	1	438	0.0023	27	c.485 others(42): Show c.485+337_485+363dupCAGCCTGCCTTTGGAGGGCACTAGGCC	CCDC74A	ENSG00000163040.15	transcript	ENST00000409856.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
CCDC7_chr10_32441140_32887864	32446907	T T	TCCCTCCC others(20): Show TCCCTCCCTCCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0207 a0002c0003t0001g0207	1	315	0.0032	27	c.-52 others(42): Show c.-52+522_-52+523insTCCTTCCTTCCTTCCCCCTCCCTCCCT	CCDC7	ENSG00000216937.14	transcript	ENST00000639629.2	protein_coding	1/43		INFO_REALIGN_3_PRIME	chr10	TogoVar

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