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
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	a0001c0003t0003g0187 a0002c0004t0001g0043 a0001c0003t0003g0187 a0002c0004t0001g0043	2	288	0.0069	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	440	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	a0002c0003t0001g0362 a0002c0003t0001g0362	1	368	0.0027	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
CCDC7_chr10_32441140_32887864	32828461	A A	AGAAGAAG others(20): Show AGAAGAAGAAGAAGAAGAAGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA18906.hp2 HG01109.hp2 NA18906.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0132 a0008c0010t0001g0133 a0008c0010t0001g0132 a0008c0010t0001g0133	2	368	0.0054	27	c.326 others(46): Show c.3268+3862_3268+3863insAGAAGAAGAAGAAGAGGAAGAGGAAG A	CCDC7	ENSG00000216937.14	transcript	ENST00000639629.2	protein_coding	33/43		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCDC7_chr10_32441140_32887864	32828485	G G	GGAAGAAG others(20): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0264 a0002c0003t0001g0264	1	368	0.0027	27	c.326 others(46): Show c.3268+3930_3268+3956dupGAAGAAGAAGAAGAAGAAGAAGAAGA A	CCDC7	ENSG00000216937.14	transcript	ENST00000639629.2	protein_coding	33/43		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCDC7_chr10_32441140_32887864	32828485	G G	GGAAGAGG others(20): Show GGAAGAGGAAGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0153 a0001c0002t0001g0153	1	368	0.0027	27	c.326 others(46): Show c.3268+3886_3268+3887insGGAAGAAGAAGAAGAAGAAGAAGAAG A	CCDC7	ENSG00000216937.14	transcript	ENST00000639629.2	protein_coding	33/43		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCDC85A_chr2_56178990_56391172	56189297	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0024 a0002c0002t0024	a0002c0002t0024g0034 a0002c0002t0024g0034	1	308	0.0033	27	c.277 others(44): Show c.277-3165_277-3164insTTTTTTTTTTTTTTTTTTTTTTTTTTT	CCDC85A	ENSG00000055813.6	transcript	ENST00000407595.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
CCDC85A_chr2_56178990_56391172	56345388	A A	ATTTATTT others(20): Show ATTTATTTGTCAAAGTAATTTAGTTATT	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0245 a0003c0003t0001g0245	1	308	0.0033	27	c.131 others(46): Show c.1317+2435_1317+2461dupTTATTTGTCAAAGTAATTTAGTTATT T	CCDC85A	ENSG00000055813.6	transcript	ENST00000407595.3	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
CCDC88A_chr2_55282842_55424856	55297285	A A	ATATATAT others(20): Show ATATATATAATTTATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01891.hp2 HG02486.hp2 others(1): Show HG01167.hp1 HG01891.hp2 HG02486.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0197 a0001c0001t0015g0198 a0001c0001t0015g0199 others(1): Show a0001c0001t0015g0197 a0001c0001t0015g0198 a0001c0001t0015g0199 a0001c0001t0015g0200	4	316	0.0127	27	c.482 others(44): Show c.4826-763_4826-762insATATATAATATATATAAATTATATATA	CCDC88A	ENSG00000115355.18	transcript	ENST00000436346.7	protein_coding	29/32			chr2	TogoVar
CCDC88A_chr2_55282842_55424856	55367528	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp2 NA20300.hp1 HG01255.hp2 NA20300.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0015 a0001c0001 a0008c0015	a0001c0001t0011 a0008c0015t0033 a0001c0001t0011 a0008c0015t0033	a0001c0001t0011g0098 a0008c0015t0033g0201 a0001c0001t0011g0098 a0008c0015t0033g0201	2	316	0.0063	27	c.403 others(44): Show c.403-3496_403-3495insAAAAAAAAAAAAAAAAAAAAAAAAAAA	CCDC88A	ENSG00000115355.18	transcript	ENST00000436346.7	protein_coding	5/32			chr2	TogoVar
CCDC88A_chr2_55282842_55424856	55390053	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00639.hp1 NA18949.hp1 NA19065.hp2 others(1): Show HG00639.hp1 NA18949.hp1 NA19065.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0034 a0001c0001t0001 a0001c0001t0034	a0001c0001t0001g0212 a0001c0001t0001g0228 a0001c0001t0001g0258 others(1): Show a0001c0001t0001g0212 a0001c0001t0001g0228 a0001c0001t0001g0258 a0001c0001t0034g0221	4	316	0.0127	27	c.165 others(44): Show c.165-1168_165-1167insCTTTTTTTTTTTTTTTTTTTTTTTTTT	CCDC88A	ENSG00000115355.18	transcript	ENST00000436346.7	protein_coding	2/32			chr2	TogoVar
CCDC88C_chr14_91266323_91422820	91345404	G G	GCTGGTCT others(20): Show GCTGGTCTTGAACTCCTGACCTCGTGAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0221 a0001c0018t0001g0221	1	284	0.0035	27	c.341 others(44): Show c.341-1774_341-1748dupATCACGAGGTCAGGAGTTCAAGACCAG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	4/29			chr14	TogoVar
CCDC91_chr12_28185456_28555166	28267773	A A	ATATTACT others(20): Show ATATTACTATATAATTATATATAATTAT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	242	0.0041	27	c.109 others(44): Show c.109+8332_109+8333insATTACTATATAATTATATATAATTATT	CCDC91	ENSG00000123106.11	transcript	ENST00000536442.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC91_chr12_28185456_28555166	28267774	T T	TATTACTA others(20): Show TATTACTATATAATTATATATAATTATA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	242	0.0041	27	c.109 others(44): Show c.109+8332_109+8333insATTACTATATAATTATATATAATTATA	CCDC91	ENSG00000123106.11	transcript	ENST00000536442.6	protein_coding	3/12			chr12	TogoVar
CCL11_chr17_34280742_34293334	34292447	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG01070.hp1 HG01192.hp1 others(25): Show HG00408.hp1 HG01070.hp1 HG01192.hp1 HG01433.hp1 HG01978.hp2 HG02273.hp1 HG02293.hp1 HG02735.hp2 HG02809.hp2 NA18747.hp2 NA18939.hp2 NA18941.hp2 NA18947.hp1 NA18959.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18997.hp1 NA18998.hp2 NA19002.hp1 NA19002.hp2 NA19010.hp1 NA19055.hp2 NA19072.hp1 NA19082.hp1 NA19083.hp2 NA20129.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0012	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0002g0002 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0002g0002 a0001c0001t0005g0002 a0001c0001t0012g0002	28	448	0.0625	27	c.47 others(38): Show c.4757_*4758insATATATATATATATATATATATATATA	CCL11	ENSG00000172156.4	transcript	ENST00000305869.4	protein_coding		4114		chr17	TogoVar
CCN4_chr8_133186039_133236690	133214110	T T	TAGTAGTT others(20): Show TAGTAGTTATATATAACTACTATATAAC	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02738.hp2 HG03490.hp1 others(2): Show HG01515.hp1 HG02738.hp2 HG03490.hp1 HG03492.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0036 a0001c0001t0001 a0001c0001t0007 a0001c0001t0036	a0001c0001t0001g0130 a0001c0001t0001g0353 a0001c0001t0001g0354 others(2): Show a0001c0001t0001g0130 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0007g0118 a0001c0001t0036g0125	5	396	0.0126	27	c.349 others(43): Show c.349+993_349+1019dupACAGTAGTTATATATAACTACTATATA	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CCND2_chr12_4268762_4310353	4291234	T T	TGTGTGTG others(20): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02004.hp1 HG02004.hp2 others(1): Show HG01981.hp1 HG02004.hp1 HG02004.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0025 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0025 a0001c0002t0002	a0001c0001t0001g0139 a0001c0001t0002g0140 a0001c0001t0025g0138 others(1): Show a0001c0001t0001g0139 a0001c0001t0002g0140 a0001c0001t0025g0138 a0001c0002t0002g0215	4	460	0.0087	27	c.720 others(44): Show c.720+2244_720+2245insGTGTGTGTGTGTGTGTGTGTGTGTGTG	CCND2	ENSG00000118971.9	transcript	ENST00000261254.8	protein_coding	4/4			chr12	TogoVar
CCND2_chr12_4268762_4310353	4309642	C C	CCCCCGCT others(20): Show CCCCCGCTCTATGCTCTGCTCTGGAATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp2 NA19059.hp2 NA18974.hp2 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0002 a0001c0001t0013g0357 a0001c0001t0013g0002 a0001c0001t0013g0357	2	460	0.0044	27	c.96 others(38): Show c.9633_*9634insCCCCGCTCTATGCTCTGCTCTGGAATG	CCND2	ENSG00000118971.9	transcript	ENST00000261254.8	protein_coding		4290		chr12	TogoVar
CCNF_chr16_2424447_2463854	2449785	G G	GTCCCCTC others(20): Show GTCCCCTCCATCCCCTCCGTCCCCTCCA	intron_variant intron_variant	MODIFIER	HG02647.hp1 NA19240.hp2 HG02647.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0050 a0001c0001t0005g0158 a0001c0001t0005g0050 a0001c0001t0005g0158	2	276	0.0073	27	c.140 others(42): Show c.1400-26_1400-25insGTCCCCTCCATCCCCTCCATCCCCTCC	CCNF	ENSG00000162063.13	transcript	ENST00000397066.9	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCNL1_chr3_157142553_157165147	157145437	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19055.hp1 NA19060.hp1 NA19055.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	426	0.0047	27	c.28 others(38): Show c.2803_*2804insTTTTTTTTTTTTTTTTTTTTTTTTTTT	CCNL1	ENSG00000163660.12	transcript	ENST00000295926.8	protein_coding		2115		chr3	TogoVar
CCNQ_chrX_153582925_153604139	153584594	A A	AGGGAGGG others(20): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 NA19043.hp1 HG02886.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0028 a0001c0001t0001g0030	2	302	0.0066	27	c.37 others(38): Show c.3770_*3771insCCCTCCCTCCCTCCCTCCCTCCCTCCC	CCNQ	ENSG00000262919.8	transcript	ENST00000576892.8	protein_coding		3330		chrX	TogoVar
CCNT2_chr2_134913822_134964342	134931262	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03704.hp1 HG00639.hp2 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0253 a0001c0001t0005g0281 a0001c0001t0004g0253 a0001c0001t0005g0281	2	404	0.0050	27	c.241 others(44): Show c.241-5554_241-5553insTTTTTTTTTTTTTTTTTTTTTTTTTTT	CCNT2	ENSG00000082258.13	transcript	ENST00000264157.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CCNY_chr10_35331509_35577667	35419533	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02258.hp2 HG02615.hp1 others(1): Show HG01891.hp1 HG02258.hp2 HG02615.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0029 a0001c0001t0004g0011 a0001c0001t0004g0017 others(1): Show a0001c0001t0002g0029 a0001c0001t0004g0011 a0001c0001t0004g0017 a0001c0001t0004g0022	4	296	0.0135	27	c.155 others(46): Show c.155-63856_155-63855insTTTTTTTTTTTTTTTTTTTTTTTTTT T	CCNY	ENSG00000108100.18	transcript	ENST00000374704.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCR8_chr3_39324709_39338680	39337233	C C	CATATATA others(20): Show CATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	398	0.0025	27	c.38 others(38): Show c.3834_*3835insATATATATATATATATATATATATATA	CCR8	ENSG00000179934.7	transcript	ENST00000326306.5	protein_coding		3554		chr3	TogoVar
CCR8_chr3_39324709_39338680	39337257	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp2 NA18945.hp1 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	398	0.0050	27	c.38 others(38): Show c.3858_*3859insATATATATATATATATATATATATATA	CCR8	ENSG00000179934.7	transcript	ENST00000326306.5	protein_coding		3578		chr3	TogoVar
CCR9_chr3_45881543_45908174	45890352	T T	TATATATA others(20): Show TATATATATATAAATATATATATATAAC	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	424	0.0024	27	c.-29 others(44): Show c.-29+3708_-29+3709insAATATATATATATAACATATATATATA	CCR9	ENSG00000173585.18	transcript	ENST00000357632.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
CCSAP_chr1_229316015_229348047	229337678	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0383 a0001c0001t0005g0383	1	436	0.0023	27	c.367 others(44): Show c.367+4420_367+4421insATATTTTTTTTTTTTTTTTTTTTTTTT	CCSAP	ENSG00000154429.11	transcript	ENST00000284617.7	protein_coding	2/3			chr1	TogoVar
CCSAP_chr1_229316015_229348047	229337678	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	436	0.0023	27	c.367 others(44): Show c.367+4420_367+4421insATATATTTTTTTTTTTTTTTTTTTTTT	CCSAP	ENSG00000154429.11	transcript	ENST00000284617.7	protein_coding	2/3			chr1	TogoVar
CCSAP_chr1_229316015_229348047	229337678	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0128 a0001c0001t0006g0128	1	436	0.0023	27	c.367 others(44): Show c.367+4420_367+4421insATATATATATATTTTTTTTTTTTTTTT	CCSAP	ENSG00000154429.11	transcript	ENST00000284617.7	protein_coding	2/3			chr1	TogoVar
CCSAP_chr1_229316015_229348047	229337678	A A	AAAAAAAT others(20): Show AAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03139.hp2 HG03195.hp2 HG02055.hp2 HG03139.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0012 a0001c0001t0005g0121 a0001c0001t0005g0012 a0001c0001t0005g0121	3	436	0.0069	27	c.367 others(44): Show c.367+4420_367+4421insATATATATATATATATATATATTTTTT	CCSAP	ENSG00000154429.11	transcript	ENST00000284617.7	protein_coding	2/3			chr1	TogoVar
CCSER1_chr4_90122394_91610295	91183328	A A	ACTTTACT others(20): Show ACTTTACTTTTTGAGCCAGAATAAGAAG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0019 a0001c0008t0019	a0001c0008t0019g0029 a0001c0008t0019g0029	1	38	0.0263	27	c.221 others(48): Show c.2217+97341_2217+97367dupTTTTTGAGCCAGAATAAGAAGCTT TAC	CCSER1	ENSG00000184305.16	transcript	ENST00000509176.6	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CCSER1_chr4_90122394_91610295	91538698	C C	CATATATT others(20): Show CATATATTATGTATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0019 a0001c0001t0015g0019	1	38	0.0263	27	c.221 others(48): Show c.2218-59868_2218-59867insTATGTATATATATATATATATATA TAT	CCSER1	ENSG00000184305.16	transcript	ENST00000509176.6	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CCSER2_chr10_84323589_84523517	84483996	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0090 a0002c0002t0005g0090	1	370	0.0027	27	c.232 others(46): Show c.2325+6333_2325+6334insTATATATATATATATATATATATATA A	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCSER2_chr10_84323589_84523517	84501116	A A	ATCTCCCA others(20): Show ATCTCCCACCACCTTGGTAACTCCTCCT	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	370	0.0027	27	c.232 others(48): Show c.2326-12304_2326-12278dupCTCCCACCACCTTGGTAACTCCTC CTT	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCZ1_chr7_5893733_5931550	5920470	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG04115.hp1 HG00621.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0059 a0001c0001t0002g0049 a0001c0001t0002g0059	2	114	0.0175	27	c.110 others(44): Show c.1106+521_1106+522insTTTTTTTTTTTTTTTTTTTTTTTTTTT	CCZ1	ENSG00000122674.12	transcript	ENST00000325974.9	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
CD109_chr6_73691203_73833313	73781836	C C	CACACACA others(20): Show CACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02155.hp1 HG00544.hp2 HG02155.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0005c0006t0048 a0001c0001t0001 a0005c0006t0048	a0001c0001t0001g0261 a0005c0006t0048g0220 a0001c0001t0001g0261 a0005c0006t0048g0220	2	362	0.0055	27	c.196 others(44): Show c.1963+517_1963+518insACACACACACACACACACACACACACA	CD109	ENSG00000156535.15	transcript	ENST00000287097.6	protein_coding	17/32			chr6	TogoVar
CD200_chr3_112328156_112367812	112363199	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0090 a0001c0002t0003g0090	1	408	0.0025	27	c.16 others(38): Show c.1649_*1650insAAAAAAAAAAAAAAAAAAAAAAAAAAA	CD200	ENSG00000091972.18	transcript	ENST00000315711.12	protein_coding		388		chr3	TogoVar
CD226_chr18_69848274_69952873	69851192	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG01175.hp1 HG01433.hp1 others(6): Show HG00621.hp1 HG01175.hp1 HG01433.hp1 HG01981.hp1 HG01981.hp2 HG02132.hp1 HG02523.hp2 HG04199.hp2 NA18960.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0010 a0002c0002t0019 others(6): Show a0002c0002t0006 a0002c0002t0010 a0002c0002t0019 a0002c0002t0066 a0002c0002t0102 a0002c0002t0105 a0002c0002t0108 a0002c0002t0118 a0002c0002t0120	a0002c0002t0006g0140 a0002c0002t0010g0184 a0002c0002t0019g0175 others(6): Show a0002c0002t0006g0140 a0002c0002t0010g0184 a0002c0002t0019g0175 a0002c0002t0066g0088 a0002c0002t0102g0138 a0002c0002t0105g0163 a0002c0002t0108g0182 a0002c0002t0118g0179 a0002c0002t0120g0235	9	256	0.0352	27	c.13 others(40): Show c.13121_*13122insAAAAAAAAAAAAAAAAAAAAAAAAAAA	CD226	ENSG00000150637.9	transcript	ENST00000582621.6	protein_coding		2081		chr18	TogoVar
CD28_chr2_203701639_203743912	203705853	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0028 a0001c0001t0007g0028	1	390	0.0026	27	c.-84 others(36): Show c.-844_-843insTTCTTTCTTTCTTTCTTTCTTTCTTTC	CD28	ENSG00000178562.18	transcript	ENST00000324106.9	protein_coding		785		chr2	TogoVar
CD2AP_chr6_47472789_47632263	47589394	A A	ACACACAC others(20): Show ACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0157 a0001c0001t0083g0157	1	322	0.0031	27	c.110 others(46): Show c.1109-6467_1109-6466insCACACACACACACACACACACACACA C	CD2AP	ENSG00000198087.7	transcript	ENST00000359314.5	protein_coding	11/17			chr6	TogoVar
CD2AP_chr6_47472789_47632263	47610971	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02717.hp2 HG02486.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0030 a0001c0001t0022 a0001c0001t0030	a0001c0001t0022g0290 a0001c0001t0030g0302 a0001c0001t0022g0290 a0001c0001t0030g0302	2	322	0.0062	27	c.181 others(46): Show c.1815-1501_1815-1500insATATATATATATATATATATATATTT T	CD2AP	ENSG00000198087.7	transcript	ENST00000359314.5	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD2AP_chr6_47472789_47632263	47610971	A A	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0295 a0001c0001t0016g0295	1	322	0.0031	27	c.181 others(46): Show c.1815-1501_1815-1500insATATATATATATATATATATTTTTTT T	CD2AP	ENSG00000198087.7	transcript	ENST00000359314.5	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD5_chr11_61097489_61132852	61099409	T T	TCACACAC others(20): Show TCACACACACACATCAACATGGAGATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(98): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02071.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02145.hp2 HG02165.hp1 HG02280.hp2 HG02300.hp1 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03516.hp2 HG03654.hp2 HG03688.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04204.hp2 NA18906.hp2 NA18941.hp1 NA18945.hp1 NA18947.hp2 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18998.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19088.hp1 NA19088.hp2 NA20129.hp1 NA20752.hp1 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0011 a0012	a0001c0001 a0002c0003 a0002c0004 others(5): Show a0001c0001 a0002c0003 a0002c0004 a0002c0009 a0002c0011 a0003c0002 a0011c0014 a0012c0016	a0001c0001t0001 a0001c0001t0008 a0002c0003t0003 others(6): Show a0001c0001t0001 a0001c0001t0008 a0002c0003t0003 a0002c0004t0004 a0002c0009t0004 a0002c0011t0004 a0003c0002t0001 a0011c0014t0001 a0012c0016t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(50): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0138 a0001c0001t0008g0001 a0002c0003t0003g0071 a0002c0003t0003g0072 a0002c0004t0004g0087 a0002c0004t0004g0101 a0002c0009t0004g0077 a0002c0011t0004g0030 a0002c0011t0004g0098 a0003c0002t0001g0088 a0011c0014t0001g0025 a0012c0016t0001g0073	101	244	0.4139	27	c.-31 others(38): Show c.-3152_-3151insCACACACACACATCAACATGGAGATTA	CD5	ENSG00000110448.11	transcript	ENST00000347785.8	protein_coding		3079		chr11	TogoVar
CD72_chr9_35604982_35623413	35619778	G G	GAAGGCTG others(20): Show GAAGGCTGCCTGTGATCACTGTTATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	390	0.0026	27	c.-15 others(38): Show c.-1502_-1476dupAAAATAACAGTGATCACAGGCAGCCTT	CD72	ENSG00000137101.14	transcript	ENST00000259633.9	protein_coding		1366		chr9	TogoVar
CD83_chr6_14112772_14141906	14140508	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG04184.hp2 NA18955.hp2 others(3): Show HG03471.hp2 HG04184.hp2 NA18955.hp2 NA19067.hp1 NA19086.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0009 a0001c0001t0001g0048 a0001c0001t0002g0001 others(3): Show a0001c0001t0001g0009 a0001c0001t0001g0048 a0001c0001t0002g0001 a0001c0001t0002g0025 a0001c0001t0003g0002 a0001c0001t0006g0006	6	438	0.0137	27	c.52 others(38): Show c.5272_*5273insAAAAAAAAAAAAAAAAAAAAAAAAAAA	CD83	ENSG00000112149.10	transcript	ENST00000379153.4	protein_coding		3603		chr6	TogoVar
CD84_chr1_160536098_160584496	160554901	C C	CTATATAT others(20): Show CTATATATATAGAATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02055.hp2 HG02109.hp2 others(17): Show HG01106.hp2 HG02055.hp2 HG02109.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02622.hp1 HG02647.hp2 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03540.hp1 HG03579.hp2 HG06807.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0010 a0001c0001t0018 others(3): Show a0001c0001t0008 a0001c0001t0010 a0001c0001t0018 a0001c0001t0050 a0001c0001t0055 a0001c0001t0085	a0001c0001t0008g0009 a0001c0001t0008g0014 a0001c0001t0010g0021 others(7): Show a0001c0001t0008g0009 a0001c0001t0008g0014 a0001c0001t0010g0021 a0001c0001t0010g0221 a0001c0001t0010g0222 a0001c0001t0010g0223 a0001c0001t0018g0015 a0001c0001t0050g0106 a0001c0001t0055g0206 a0001c0001t0085g0071	20	380	0.0526	27	c.389 others(42): Show c.389-756_389-755insAATATATATATATATTCTATATATATA	CD84	ENSG00000066294.15	transcript	ENST00000368054.8	protein_coding	2/6			chr1	TogoVar
CD99L2_chrX_150761336_150903668	150824647	A A	AGGAGGAG others(20): Show AGGAGGAGAAGAAGAAGAAGAAGAAGAG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0204 a0001c0001t0007g0204	1	212	0.0047	27	c.130 others(44): Show c.130+6583_130+6584insCTCTTCTTCTTCTTCTTCTTCTCCTCC	CD99L2	ENSG00000102181.22	transcript	ENST00000370377.8	protein_coding	2/10			chrX	TogoVar
CDADC1_chr13_49242925_49298485	49293883	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG01167.hp2 others(22): Show HG00280.hp1 HG00323.hp1 HG01167.hp2 HG01243.hp1 HG01516.hp1 HG01943.hp1 HG01981.hp2 HG02258.hp1 HG03098.hp2 HG03669.hp1 HG03669.hp2 HG03834.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18906.hp2 NA18951.hp2 NA18952.hp1 NA18959.hp1 NA18970.hp1 NA19010.hp2 NA19012.hp1 NA19065.hp1 NA19081.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005	a0001c0001t0002g0009 a0001c0001t0002g0241 a0001c0001t0002g0243 others(21): Show a0001c0001t0002g0009 a0001c0001t0002g0241 a0001c0001t0002g0243 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0290 a0001c0001t0002g0345 a0001c0001t0003g0221 a0001c0001t0003g0227 a0001c0001t0003g0230 a0001c0001t0003g0233 a0001c0001t0003g0239 a0001c0001t0004g0038 a0001c0001t0005g0006 a0001c0001t0005g0191 a0001c0001t0005g0192 a0001c0001t0005g0200 a0001c0001t0005g0204 a0001c0001t0005g0209	25	368	0.0679	27	c.21 others(38): Show c.2126_*2127insAAAAAAAAAAAAAAAAAAAAAAAAAAA	CDADC1	ENSG00000102543.14	transcript	ENST00000251108.10	protein_coding		399		chr13	TogoVar
CDC16_chr13_114229897_114277723	114251913	T T	TTACACTA others(20): Show TTACACTAGCCCTGTTGGATAAGAGCCC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0178 a0001c0009t0001g0178	1	380	0.0026	27	c.109 others(46): Show c.1097+1301_1097+1327dupGCCCTGTTGGATAAGAGCCCTACACT A	CDC16	ENSG00000130177.16	transcript	ENST00000356221.8	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
CDC16_chr13_114229897_114277723	114251975	G G	GCCCTGTT others(20): Show GCCCTGTTGGATAAGAGCCCCACACTAA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0077 a0001c0002t0011g0077	1	380	0.0026	27	c.109 others(46): Show c.1097+1320_1097+1321insCACACTAACCCTGTTGGATAAGAGCC C	CDC16	ENSG00000130177.16	transcript	ENST00000356221.8	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr13	TogoVar

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