Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CBFB_chr16_67024149_67106058	67092698	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0017	1	212	0.0047	27	c.496 others(44): Show c.496-6006_496-5980dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	CBFB	ENSG00000067955.15	transcript	ENST00000412916.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
CBL_chr11_119201339_119313149	119206289	C C	CCGGTGGC others(20): Show CCGGTGGCGGCGGCGGCGGCGGCGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp1 HG03492.hp2 NA18984.hp2 others(1): Show HG03490.hp1 HG03492.hp2 NA18984.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0043 a0001c0001t0001 a0001c0001t0043	a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0165 others(1): Show a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0043g0143	4	364	0.0110	27	c.-12 others(36): Show c.-129_-128insCGGTGGCGGCGGCGGCGGCGGCGGCGG	CBL	ENSG00000110395.8	transcript	ENST00000264033.6	protein_coding		49		chr11	TogoVar
CBR3_chr21_36130079_36151562	36146917	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp2 NA19062.hp2 NA19087.hp2 NA18963.hp2 NA19062.hp2 NA19087.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0070 a0002c0002t0001g0296 a0002c0002t0001g0006 a0002c0002t0001g0070 a0002c0002t0001g0296	3	424	0.0071	27	c.40 others(36): Show c.405_*406insTTTTTTTTTTTTTTTTTTTTTTTTTTT	CBR3	ENSG00000159231.6	transcript	ENST00000290354.6	protein_coding		356		chr21	TogoVar
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	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0016 a0002c0003t0001g0016	2	420	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	420	0.0071	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	a0001c0001t0001g0076 a0001c0001t0001g0076	1	420	0.0024	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 a0001c0001t0005g0127 a0001c0005t0001g0014 a0001c0001t0001g0001 a0001c0001t0005g0127 a0001c0005t0001g0014	3	420	0.0071	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 a0007 a0012 a0023	a0001c0001 a0001c0003 a0002c0002 others(6): Show a0001c0001 a0001c0003 a0002c0002 a0002c0005 a0002c0009 a0003c0004 a0007c0012 a0012c0014 a0023c0037	a0001c0001t0001 a0001c0001t0008 a0001c0003t0001 others(8): Show a0001c0001t0001 a0001c0001t0008 a0001c0003t0001 a0002c0002t0001 a0002c0005t0001 a0002c0009t0001 a0003c0004t0001 a0003c0004t0009 a0007c0012t0001 a0012c0014t0001 a0023c0037t0001	a0001c0001t0001g0051 a0001c0001t0001g0122 a0001c0001t0001g0156 others(18): Show a0001c0001t0001g0051 a0001c0001t0001g0122 a0001c0001t0001g0156 a0001c0001t0001g0175 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0008g0036 a0001c0003t0001g0106 a0001c0003t0001g0141 a0002c0002t0001g0029 a0002c0002t0001g0054 a0002c0002t0001g0132 a0002c0002t0001g0179 a0002c0005t0001g0182 a0002c0009t0001g0107 a0002c0009t0001g0118 a0003c0004t0001g0033 a0003c0004t0009g0174 a0007c0012t0001g0197 a0012c0014t0001g0086 a0023c0037t0001g0008	21	216	0.0972	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	a0002c0004t0001g0356 a0002c0004t0001g0356	1	428	0.0023	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	a0002c0002t0001g0168 a0002c0002t0001g0168	1	428	0.0023	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	a0001c0001t0002g0041 a0001c0001t0002g0041	1	287	0.0035	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	a0002c0002t0007g0115 a0002c0002t0007g0115	1	341	0.0029	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	a0001c0001t0002g0247 a0001c0001t0002g0261 a0001c0001t0002g0247 a0001c0001t0002g0261	2	354	0.0057	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 a0001c0001t0002g0226 a0001c0001t0002g0239 others(2): Show a0001c0001t0002g0180 a0001c0001t0002g0226 a0001c0001t0002g0239 a0001c0001t0002g0246 a0001c0001t0002g0259	5	354	0.0141	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	a0001c0001t0001g0329 a0001c0001t0001g0343 a0001c0001t0001g0344 others(3): Show a0001c0001t0001g0329 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0002g0156 a0001c0001t0002g0161 a0001c0001t0002g0222	6	354	0.0170	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	a0001c0001t0002g0224 a0001c0001t0002g0224	1	354	0.0028	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	a0001c0001t0002g0195 a0001c0001t0002g0195	1	380	0.0026	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	a0008c0015t0001g0194 a0008c0015t0001g0194	1	220	0.0046	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	a0002c0002t0001g0134 a0002c0002t0001g0134	1	220	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	a0001c0005t0001g0115 a0002c0002t0001g0172 a0003c0003t0001g0140 a0001c0005t0001g0115 a0002c0002t0001g0172 a0003c0003t0001g0140	3	220	0.0136	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	a0001c0016t0007 a0002c0006t0007 a0001c0016t0007 a0002c0006t0007	a0001c0016t0007g0034 a0002c0006t0007g0254 a0001c0016t0007g0034 a0002c0006t0007g0254	2	274	0.0073	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	a0001c0001t0001g0165 a0001c0001t0001g0165	1	318	0.0031	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 a0007	a0001c0001 a0001c0006 a0001c0008 others(6): Show a0001c0001 a0001c0006 a0001c0008 a0001c0021 a0001c0031 a0002c0002 a0002c0009 a0005c0012 a0007c0024	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0001c0008t0003 a0001c0021t0002 a0001c0031t0001 a0002c0002t0001 a0002c0002t0002 a0002c0009t0002 a0005c0012t0001 a0007c0024t0001	a0001c0001t0001g0172 a0001c0001t0001g0203 a0001c0001t0002g0100 others(51): Show a0001c0001t0001g0172 a0001c0001t0001g0203 a0001c0001t0002g0100 a0001c0001t0002g0113 a0001c0001t0002g0127 a0001c0001t0002g0202 a0001c0006t0001g0107 a0001c0006t0001g0187 a0001c0008t0003g0201 a0001c0021t0002g0108 a0001c0031t0001g0059 a0002c0002t0001g0001 a0002c0002t0001g0075 a0002c0002t0001g0087 a0002c0002t0001g0096 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0162 a0002c0002t0001g0165 a0002c0002t0001g0167 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0176 a0002c0002t0001g0179 a0002c0002t0001g0181 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0194 a0002c0002t0001g0196 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0221 a0002c0002t0002g0064 a0002c0002t0002g0174 a0002c0002t0002g0177 a0002c0002t0002g0178 a0002c0002t0002g0182 a0002c0002t0002g0183 a0002c0009t0002g0239 a0005c0012t0001g0217 a0007c0024t0001g0060 a0007c0024t0001g0067	55	248	0.2218	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	a0002c0002t0001g0197 a0002c0002t0001g0197	1	248	0.0040	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	a0005c0008t0004g0045 a0005c0008t0004g0185 a0005c0008t0004g0045 a0005c0008t0004g0185	3	416	0.0072	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	a0001c0004t0001g0173 a0001c0004t0001g0220 a0001c0004t0001g0221 others(1): Show a0001c0004t0001g0173 a0001c0004t0001g0220 a0001c0004t0001g0221 a0001c0004t0001g0225	4	294	0.0136	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	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0001 a0012c0018t0001	a0012c0018t0001g0150 a0012c0018t0001g0150	1	294	0.0034	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	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0001 a0006c0011t0001	a0006c0011t0001g0054 a0006c0011t0001g0054	1	58	0.0172	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	a0003c0003t0001g0058 a0003c0003t0001g0058	1	58	0.0172	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	a0002c0002t0002g0215 a0002c0002t0002g0215	1	446	0.0022	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	a0001c0001t0001g0057 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0057 a0001c0001t0001g0078 a0001c0001t0001g0079	3	234	0.0128	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 a0001c0001t0024 a0001c0001t0001 a0001c0001t0024	a0001c0001t0001g0001 a0001c0001t0024g0041 a0001c0001t0001g0001 a0001c0001t0024g0041	2	414	0.0048	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 a0001c0001t0006 a0001c0001t0020 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0020 a0002c0002t0036	a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0123 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0123 a0001c0001t0006g0008 a0001c0001t0020g0114 a0002c0002t0036g0084	11	414	0.0266	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	414	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 a0001c0001t0002g0029 a0001c0001t0002g0194 others(2): Show a0001c0001t0002g0002 a0001c0001t0002g0029 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196	17	334	0.0509	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	a0001c0001t0001g0236 a0001c0001t0001g0236	1	358	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	a0001c0001t0001g0157 a0001c0002t0001g0236 a0001c0002t0003g0014 others(4): Show a0001c0001t0001g0157 a0001c0002t0001g0236 a0001c0002t0003g0014 a0001c0005t0001g0079 a0001c0005t0001g0089 a0002c0003t0002g0319 a0004c0009t0003g0010	7	350	0.0200	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	a0001c0002t0003g0175 a0001c0003t0001g0154 a0001c0003t0001g0155 others(1): Show a0001c0002t0003g0175 a0001c0003t0001g0154 a0001c0003t0001g0155 a0001c0011t0001g0259	4	378	0.0106	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	378	0.0027	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	a0001c0003t0001g0183 a0001c0003t0001g0183	1	378	0.0027	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	a0001c0025t0002g0265 a0001c0025t0002g0265	1	378	0.0027	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 a0001c0001t0001g0079 a0001c0001t0001g0081 others(6): Show a0001c0001t0001g0072 a0001c0001t0001g0079 a0001c0001t0001g0081 a0002c0002t0001g0185 a0002c0002t0003g0035 a0002c0002t0003g0170 a0002c0002t0004g0086 a0002c0002t0004g0227 a0002c0002t0004g0228	9	256	0.0352	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 a0016 a0001 a0016	a0001c0001 a0016c0017 a0001c0001 a0016c0017	a0001c0001t0001 a0016c0017t0009 a0001c0001t0001 a0016c0017t0009	a0001c0001t0001g0080 a0016c0017t0009g0144 a0001c0001t0001g0080 a0016c0017t0009g0144	2	256	0.0078	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	a0001c0001t0001g0259 a0001c0001t0001g0259	1	376	0.0027	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	a0002c0002t0002g0036 a0002c0002t0002g0036	1	372	0.0027	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	a0002c0002t0002g0051 a0002c0002t0002g0051	1	372	0.0027	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	a0002c0002t0002g0325 a0002c0002t0002g0325	1	372	0.0027	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	a0001c0001t0001g0109 a0001c0001t0001g0170 a0001c0001t0001g0193 others(2): Show a0001c0001t0001g0109 a0001c0001t0001g0170 a0001c0001t0001g0193 a0001c0001t0002g0128 a0002c0002t0002g0029	5	372	0.0134	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	a0001c0001t0001g0126 a0001c0001t0009g0106 a0001c0001t0001g0126 a0001c0001t0009g0106	2	372	0.0054	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	a0004c0007t0005g0237 a0004c0007t0005g0237	1	372	0.0027	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

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