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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
CCPG1_chr15_55350239_55413359	55379161	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03490.hp1 HG03492.hp1 others(2): Show HG03486.hp1 HG03490.hp1 HG03492.hp1 HG04228.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0003 a0003c0005 a0001c0002 a0001c0003 a0003c0005	a0001c0002t0001 a0001c0003t0002 a0003c0005t0003 a0001c0002t0001 a0001c0003t0002 a0003c0005t0003	a0001c0002t0001g0052 a0001c0002t0001g0075 a0001c0003t0002g0299 others(2): Show a0001c0002t0001g0052 a0001c0002t0001g0075 a0001c0003t0002g0299 a0003c0005t0003g0284 a0003c0005t0003g0285	5	354	0.0141	22	c.176 others(37): Show c.176-807_176-786dupACACACACACACACACACACAC	CCPG1	ENSG00000260916.8	transcript	ENST00000442196.8	protein_coding	3/8			chr15	TogoVar
CCR8_chr3_39324709_39338680	39337233	C C	CATATATA others(15): Show CATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG01069.hp2 HG01192.hp1 others(49): Show HG00597.hp1 HG01069.hp2 HG01192.hp1 HG01346.hp2 HG01496.hp1 HG01516.hp2 HG01978.hp2 HG02040.hp2 HG02132.hp1 HG02293.hp1 HG02451.hp1 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02683.hp1 HG02683.hp2 HG03041.hp1 HG03239.hp1 HG03579.hp1 HG03704.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18942.hp1 NA18942.hp2 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18955.hp2 NA18957.hp2 NA18960.hp2 NA18961.hp2 NA18963.hp1 NA18971.hp2 NA18977.hp1 NA18977.hp2 NA18990.hp1 NA18991.hp1 NA18995.hp2 NA18997.hp2 NA19002.hp2 NA19006.hp1 NA19009.hp2 NA19010.hp2 NA19065.hp2 NA19084.hp1 NA19085.hp2 NA20805.hp1 NA21309.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0004 a0001c0001 a0002c0002 a0005c0004	a0001c0001t0001 a0002c0002t0001 a0005c0004t0001 a0001c0001t0001 a0002c0002t0001 a0005c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0037 a0002c0002t0001g0003 a0005c0004t0001g0002	52	398	0.1307	22	c.38 others(33): Show c.3834_*3835insATATATATATATATATATATAT	CCR8	ENSG00000179934.7	transcript	ENST00000326306.5	protein_coding		3554		chr3	TogoVar
CCSER1_chr4_90122394_91610295	90271862	A A	ATATATAT others(15): Show ATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0005 a0003c0005t0005	a0003c0005t0005g0011 a0003c0005t0005g0011	1	38	0.0263	22	c.-41 others(41): Show c.-41-36381_-41-36380insATATATATATATATATATATTT	CCSER1	ENSG00000184305.16	transcript	ENST00000509176.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CCSER1_chr4_90122394_91610295	90391504	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0038 a0001c0001t0008g0038	1	38	0.0263	22	c.151 others(41): Show c.1510-8526_1510-8505dupTATATATATATATATATATATA	CCSER1	ENSG00000184305.16	transcript	ENST00000509176.6	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CCSER1_chr4_90122394_91610295	90413981	A A	AAAAAATA others(15): Show AAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0014 a0001c0003t0002g0014	1	38	0.0263	22	c.160 others(43): Show c.1603+13853_1603+13854insAAAATATATATATATATATATA	CCSER1	ENSG00000184305.16	transcript	ENST00000509176.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CCSER1_chr4_90122394_91610295	90460324	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA18906.hp1 HG03516.hp2 NA18906.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0008 a0004c0004t0004 a0002c0002t0008 a0004c0004t0004	a0002c0002t0008g0030 a0004c0004t0004g0018 a0002c0002t0008g0030 a0004c0004t0004g0018	2	38	0.0526	22	c.160 others(41): Show c.1604-7889_1604-7888insAAAAAAAAAAAAAAAAAAAAAA	CCSER1	ENSG00000184305.16	transcript	ENST00000509176.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CCSER1_chr4_90122394_91610295	90551706	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	38	0.0263	22	c.172 others(43): Show c.1725-76318_1725-76317insCTCTCTCTCTCTCTATATATAT	CCSER1	ENSG00000184305.16	transcript	ENST00000509176.6	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CCSER1_chr4_90122394_91610295	90732027	T T	TTCTCTCT others(15): Show TTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03130.hp1 HG02717.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0002 a0001c0001t0003 a0001c0003t0002	a0001c0001t0003g0012 a0001c0003t0002g0014 a0001c0001t0003g0012 a0001c0003t0002g0014	2	38	0.0526	22	c.201 others(41): Show c.2010+8049_2010+8070dupTCTCTCTCTCTCTCTCTCTCTC	CCSER1	ENSG00000184305.16	transcript	ENST00000509176.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CCSER1_chr4_90122394_91610295	90732056	T T	TCTCTCTC others(15): Show TCTCTCTCTCTCTCTCTCTCTCA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0022 a0001c0001t0004g0022	1	38	0.0263	22	c.201 others(41): Show c.2010+8070_2010+8071insTCTCTCTCTCTCTCTCACTCTC	CCSER1	ENSG00000184305.16	transcript	ENST00000509176.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CCSER1_chr4_90122394_91610295	90811995	C C	CACACACA others(15): Show CACACACACATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03139.hp1 HG02258.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0019 a0001c0001t0001 a0001c0008t0019	a0001c0001t0001g0024 a0001c0008t0019g0029 a0001c0001t0001g0024 a0001c0008t0019g0029	2	38	0.0526	22	c.201 others(41): Show c.2011-3766_2011-3765insCACACACATATATATATATATA	CCSER1	ENSG00000184305.16	transcript	ENST00000509176.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CCSER1_chr4_90122394_91610295	91296483	A A	ATATATAT others(15): Show ATATATATATATATATATTTATT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02897.hp1 HG02109.hp2 HG02897.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0001 a0006c0006t0016 a0001c0001t0001 a0006c0006t0016	a0001c0001t0001g0032 a0006c0006t0016g0020 a0001c0001t0001g0032 a0006c0006t0016g0020	2	38	0.0526	22	c.221 others(45): Show c.2217+210492_2217+210493insATATATATATATATTTATTTAT	CCSER1	ENSG00000184305.16	transcript	ENST00000509176.6	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CCSER1_chr4_90122394_91610295	91296483	A A	ATATATAT others(15): Show ATATATATATATATTTATTTATT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0014 a0001c0003t0002g0014	1	38	0.0263	22	c.221 others(45): Show c.2217+210492_2217+210493insATATATATATTTATTTATTTAT	CCSER1	ENSG00000184305.16	transcript	ENST00000509176.6	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CCSER1_chr4_90122394_91610295	91411491	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0003 a0001c0001t0011g0003	1	38	0.0263	22	c.221 others(45): Show c.2218-187067_2218-187046dupTATATATATATATATATATATA	CCSER1	ENSG00000184305.16	transcript	ENST00000509176.6	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CCSER2_chr10_84323589_84523517	84385004	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02572.hp2 HG02145.hp1 HG02572.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0007	a0003c0004t0007g0067 a0003c0004t0007g0069 a0003c0004t0007g0067 a0003c0004t0007g0069	2	370	0.0054	22	c.161 others(43): Show c.1614+11198_1614+11219dupACACACACACACACACACACAC	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCSER2_chr10_84323589_84523517	84441736	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0154 a0001c0001t0004g0154	1	370	0.0027	22	c.206 others(41): Show c.2064+3048_2064+3069dupTTTTTTTTTTTTTTTTTTTTTT	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCSER2_chr10_84323589_84523517	84483953	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01496.hp1 HG01993.hp1 HG00609.hp2 HG01496.hp1 HG01993.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0005 a0001c0001t0002 a0002c0002t0005	a0001c0001t0002g0328 a0002c0002t0005g0075 a0002c0002t0005g0340 a0001c0001t0002g0328 a0002c0002t0005g0075 a0002c0002t0005g0340	3	370	0.0081	22	c.232 others(41): Show c.2325+6312_2325+6333dupTATATATATATATATATATATA	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCSER2_chr10_84323589_84523517	84483953	T T	TTTTATAT others(15): Show TTTTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0094 a0002c0002t0005g0094	1	370	0.0027	22	c.232 others(41): Show c.2325+6290_2325+6291insTTATATATATATATATATATAT	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCSER2_chr10_84323589_84523517	84501850	T T	TATATATA others(15): Show TATATATATATATATATATACTC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	370	0.0027	22	c.232 others(43): Show c.2326-11590_2326-11589insTATATATATACTCATATATATA	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCT2_chr12_69580459_69606570	69580494	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	410	0.0024	22	c.-50 others(33): Show c.-5028_-5027insTTTTTTTTTTTTTTTTTTTTTT	CCT2	ENSG00000166226.13	transcript	ENST00000299300.11	protein_coding		4964		chr12	TogoVar
CCT7_chr2_73229308_73258005	73229420	A A	ATGCCTGC others(15): Show ATGCCTGCCCACTCCTCGTGTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00733.hp1 HG00735.hp1 others(29): Show HG00140.hp1 HG00733.hp1 HG00735.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01243.hp2 HG01361.hp1 HG01891.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02809.hp2 HG02818.hp2 HG02965.hp1 HG02976.hp2 HG03195.hp2 HG03209.hp1 HG03471.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG06807.hp2 NA18522.hp1 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0024 a0001c0001t0001g0025 others(19): Show a0001c0001t0001g0005 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0163	32	378	0.0847	22	c.-49 others(33): Show c.-4959_-4958insTGCCTGCCCACTCCTCGTGTCC	CCT7	ENSG00000135624.17	transcript	ENST00000258091.10	protein_coding		4887		chr2	TogoVar
CCT7_chr2_73229308_73258005	73252324	G G	GATATATA others(15): Show GATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA18960.hp2 HG02615.hp1 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0140 a0001c0001t0001g0143	2	378	0.0053	22	c.141 others(39): Show c.1411-310_1411-289dupTATATATATATATATATATATA	CCT7	ENSG00000135624.17	transcript	ENST00000258091.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
CCZ1B_chr7_6793937_6831275	6797870	C C	CACACACA others(15): Show CACACACACACACACACACATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0189 a0001c0001t0006g0189	1	354	0.0028	22	c.13 others(33): Show c.1353_*1354insATATGTGTGTGTGTGTGTGTGT	CCZ1B	ENSG00000146574.16	transcript	ENST00000316731.13	protein_coding		1066		chr7	TogoVar
CCZ1B_chr7_6793937_6831275	6797872	C C	CACACACA others(15): Show CACACACACACACACACAAATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 NA20752.hp1 HG04228.hp2 NA20752.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0006 a0001c0005t0002 a0001c0005t0006	a0001c0005t0002g0226 a0001c0005t0006g0187 a0001c0005t0002g0226 a0001c0005t0006g0187	2	354	0.0057	22	c.13 others(33): Show c.1351_*1352insATATTTGTGTGTGTGTGTGTGT	CCZ1B	ENSG00000146574.16	transcript	ENST00000316731.13	protein_coding		1064		chr7	TogoVar
CCZ1B_chr7_6793937_6831275	6804424	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0004 a0001c0009t0004	a0001c0009t0004g0109 a0001c0009t0004g0109	1	354	0.0028	22	c.110 others(39): Show c.1106+513_1106+514insTTTTTTTTTTTTTTTTTTTTTT	CCZ1B	ENSG00000146574.16	transcript	ENST00000316731.13	protein_coding	12/14			chr7	TogoVar
CCZ1B_chr7_6793937_6831275	6825641	C C	CCACACAC others(15): Show CCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02080.hp2 HG03710.hp1 others(2): Show HG00673.hp1 HG02080.hp2 HG03710.hp1 NA18973.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 others(2): Show a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289	5	354	0.0141	22	c.120 others(37): Show c.120+415_120+436dupTGTGTGTGTGTGTGTGTGTGTG	CCZ1B	ENSG00000146574.16	transcript	ENST00000316731.13	protein_coding	1/14			chr7	TogoVar
CCZ1B_chr7_6793937_6831275	6830651	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0004 a0002c0003t0005g0004	1	354	0.0028	22	c.-44 others(33): Show c.-4455_-4454insTATATATATATATATATATATA	CCZ1B	ENSG00000146574.16	transcript	ENST00000316731.13	protein_coding		4377		chr7	TogoVar
CCZ1B_chr7_6793937_6831275	6830651	T T	TTTTATAT others(15): Show TTTTATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0183 a0001c0001t0004g0183	1	354	0.0028	22	c.-44 others(33): Show c.-4455_-4454insTATATATATATATATATATAAA	CCZ1B	ENSG00000146574.16	transcript	ENST00000316731.13	protein_coding		4377		chr7	TogoVar
CCZ1B_chr7_6793937_6831275	6830739	C C	CACACACA others(15): Show CACACACACATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0118 a0002c0003t0003g0118	1	354	0.0028	22	c.-45 others(33): Show c.-4543_-4542insATATATATATATATGTGTGTGT	CCZ1B	ENSG00000146574.16	transcript	ENST00000316731.13	protein_coding		4465		chr7	TogoVar
CD109_chr6_73691203_73833313	73781816	G G	GACACACA others(15): Show GACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG03098.hp2 HG01167.hp2 HG03098.hp2	a0001 a0030 a0001 a0030	a0001c0001 a0030c0041 a0001c0001 a0030c0041	a0001c0001t0011 a0030c0041t0004 a0001c0001t0011 a0030c0041t0004	a0001c0001t0011g0125 a0030c0041t0004g0011 a0001c0001t0011g0125 a0030c0041t0004g0011	2	362	0.0055	22	c.196 others(39): Show c.1963+517_1963+518insACACACACACACACACACACAC	CD109	ENSG00000156535.15	transcript	ENST00000287097.6	protein_coding	17/32		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD109_chr6_73691203_73833313	73791184	C C	CACACATA others(15): Show CACACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	362	0.0028	22	c.270 others(41): Show c.2702-1435_2702-1434insTATATATATATATATACACATA	CD109	ENSG00000156535.15	transcript	ENST00000287097.6	protein_coding	22/32		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD19_chr16_28926971_28944342	28929881	T T	TAGAGAGA others(15): Show TAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	400	0.0025	22	c.-21 others(33): Show c.-2120_-2119insAGAGAGAGAGAGAGAGAGAGAG	CD19	ENSG00000177455.15	transcript	ENST00000538922.8	protein_coding		2089		chr16	TogoVar
CD19_chr16_28926971_28944342	28929891	T T	TAGAGAGA others(15): Show TAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG03654.hp1 NA19063.hp2 HG01496.hp1 HG03654.hp1 NA19063.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0004c0007 a0001c0001 a0002c0003 a0004c0007	a0001c0001t0007 a0002c0003t0001 a0004c0007t0001 a0001c0001t0007 a0002c0003t0001 a0004c0007t0001	a0001c0001t0007g0005 a0002c0003t0001g0001 a0004c0007t0001g0022 a0001c0001t0007g0005 a0002c0003t0001g0001 a0004c0007t0001g0022	3	400	0.0075	22	c.-21 others(33): Show c.-2110_-2109insAGAGAGAGAGAGAGAGAGAGAG	CD19	ENSG00000177455.15	transcript	ENST00000538922.8	protein_coding		2079		chr16	TogoVar
CD19_chr16_28926971_28944342	28929893	T T	TAGAGAGA others(15): Show TAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	400	0.0025	22	c.-21 others(33): Show c.-2108_-2107insAGAGAGAGAGAGAGAGAGAGAG	CD19	ENSG00000177455.15	transcript	ENST00000538922.8	protein_coding		2077		chr16	TogoVar
CD19_chr16_28926971_28944342	28929893	T T	TATAGAGA others(15): Show TATAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	400	0.0025	22	c.-21 others(33): Show c.-2108_-2107insATAGAGAGAGAGAGAGAGAGAG	CD19	ENSG00000177455.15	transcript	ENST00000538922.8	protein_coding		2077		chr16	TogoVar
CD19_chr16_28926971_28944342	28929893	T T	TATATAGA others(15): Show TATATAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	400	0.0025	22	c.-21 others(33): Show c.-2108_-2107insATATAGAGAGAGAGAGAGAGAG	CD19	ENSG00000177455.15	transcript	ENST00000538922.8	protein_coding		2077		chr16	TogoVar
CD19_chr16_28926971_28944342	28929893	T T	TATATATA others(15): Show TATATATATAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0007 a0002c0003t0001g0007	1	400	0.0025	22	c.-21 others(33): Show c.-2108_-2107insATATATATAGAGAGAGAGAGAG	CD19	ENSG00000177455.15	transcript	ENST00000538922.8	protein_coding		2077		chr16	TogoVar
CD19_chr16_28926971_28944342	28929893	T T	TATATATA others(15): Show TATATATATATAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG03492.hp1 HG02622.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0005g0018 a0001c0001t0001g0001 a0001c0001t0005g0018	2	400	0.0050	22	c.-21 others(33): Show c.-2108_-2107insATATATATATAGAGAGAGAGAG	CD19	ENSG00000177455.15	transcript	ENST00000538922.8	protein_coding		2077		chr16	TogoVar
CD19_chr16_28926971_28944342	28929912	A A	AGAGAGAG others(15): Show AGAGAGAGAGAGAGAGAGAGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	1	400	0.0025	22	c.-20 others(33): Show c.-2089_-2088insGAGAGAGAGAGAGAGAGAGAGG	CD19	ENSG00000177455.15	transcript	ENST00000538922.8	protein_coding		2058		chr16	TogoVar
CD19_chr16_28926971_28944342	28929930	A A	AGAGAGAG others(15): Show AGAGAGAGAGAGAGAGAGAGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	22	c.-20 others(33): Show c.-2071_-2070insGAGAGAGAGAGAGAGAGAGAGG	CD19	ENSG00000177455.15	transcript	ENST00000538922.8	protein_coding		2040		chr16	TogoVar
CD200R1_chr3_112916205_112980103	112917554	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 NA18906.hp2 HG02976.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0078 a0001c0001t0001g0038 a0001c0001t0001g0078	2	416	0.0048	22	c.61 others(33): Show c.6122_*6123insTTTTTTTTTTTTTTTTTTTTTT	CD200R1	ENSG00000163606.11	transcript	ENST00000308611.8	protein_coding		3650		chr3	TogoVar
CD209_chr19_7734993_7752534	7736483	T T	TCCTTCCT others(15): Show TCCTTCCTTCCTTCCTTCCTTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0013 a0001c0001t0013g0013	1	454	0.0022	22	c.65 others(33): Show c.6555_*6556insGGAAGGAAGGAAGGAAGGAAGG	CD209	ENSG00000090659.18	transcript	ENST00000315599.12	protein_coding		3509		chr19	TogoVar
CD226_chr18_69848274_69952873	69851192	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG02717.hp2 HG02922.hp1 others(5): Show HG01109.hp1 HG02717.hp2 HG02922.hp1 HG03688.hp2 HG03927.hp2 HG04115.hp2 NA18522.hp2 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0015 a0002c0002t0029 others(5): Show a0002c0002t0014 a0002c0002t0015 a0002c0002t0029 a0002c0002t0038 a0002c0002t0051 a0002c0002t0070 a0002c0002t0071 a0002c0002t0114	a0002c0002t0014g0020 a0002c0002t0015g0072 a0002c0002t0029g0058 others(5): Show a0002c0002t0014g0020 a0002c0002t0015g0072 a0002c0002t0029g0058 a0002c0002t0038g0224 a0002c0002t0051g0011 a0002c0002t0070g0035 a0002c0002t0071g0015 a0002c0002t0114g0204	8	256	0.0313	22	c.13 others(35): Show c.13100_*13121dupAAAAAAAAAAAAAAAAAAAAAA	CD226	ENSG00000150637.9	transcript	ENST00000582621.6	protein_coding		2081		chr18	TogoVar
CD226_chr18_69848274_69952873	69861554	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01257.hp1 HG01361.hp1 HG02717.hp2 others(3): Show HG01257.hp1 HG01361.hp1 HG02717.hp2 HG03017.hp2 HG03453.hp2 HG03516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0110 a0002c0002t0111 others(1): Show a0002c0002t0015 a0002c0002t0110 a0002c0002t0111 a0002c0002t0112	a0002c0002t0015g0031 a0002c0002t0015g0048 a0002c0002t0015g0072 others(3): Show a0002c0002t0015g0031 a0002c0002t0015g0048 a0002c0002t0015g0072 a0002c0002t0110g0193 a0002c0002t0111g0196 a0002c0002t0112g0119	6	256	0.0234	22	c.27 others(33): Show c.2759_*2760insTATATATATATATATATATATA	CD226	ENSG00000150637.9	transcript	ENST00000582621.6	protein_coding	6/6	2759		chr18	TogoVar
CD226_chr18_69848274_69952873	69861554	G G	GTGTATAT others(15): Show GTGTATATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18968.hp2 NA19010.hp1 NA18968.hp2 NA19010.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0106 a0002c0002t0107 a0002c0002t0106 a0002c0002t0107	a0002c0002t0106g0222 a0002c0002t0107g0148 a0002c0002t0106g0222 a0002c0002t0107g0148	2	256	0.0078	22	c.27 others(33): Show c.2759_*2760insTATATATATATATATATATACA	CD226	ENSG00000150637.9	transcript	ENST00000582621.6	protein_coding	6/6	2759		chr18	TogoVar
CD226_chr18_69848274_69952873	69934279	T T	TACATACA others(15): Show TACATACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0036 a0001c0001t0003g0036	1	256	0.0039	22	c.382 others(41): Show c.382+12454_382+12455insGTGTGTGTGTGTGTGTGTATGT	CD226	ENSG00000150637.9	transcript	ENST00000582621.6	protein_coding	2/5			chr18	TogoVar
CD247_chr1_167425640_167523529	167429373	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00738.hp1 HG01069.hp2 others(2): Show HG00639.hp2 HG00738.hp1 HG01069.hp2 HG01071.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0150 others(2): Show a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0150 a0001c0001t0002g0207 a0001c0001t0002g0245	5	374	0.0134	22	c.23 others(33): Show c.2307_*2308insTATATATATATATATATATATA	CD247	ENSG00000198821.12	transcript	ENST00000362089.10	protein_coding		1266		chr1	TogoVar
CD28_chr2_203701639_203743912	203705879	T T	TCTTTCTT others(15): Show TCTTTCTTTCTTTCTTTCTTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	390	0.0026	22	c.-81 others(31): Show c.-818_-817insCTTTCTTTCTTTCTTTCTTCTC	CD28	ENSG00000178562.18	transcript	ENST00000324106.9	protein_coding		759		chr2	TogoVar
CD2AP_chr6_47472789_47632263	47566323	T T	TATATATA others(15): Show TATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA19086.hp2 NA18988.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0015 a0001c0001t0005 a0001c0001t0015	a0001c0001t0005g0221 a0001c0001t0015g0222 a0001c0001t0005g0221 a0001c0001t0015g0222	2	322	0.0062	22	c.542 others(39): Show c.542-7740_542-7739insTATATATATATATACACACACA	CD2AP	ENSG00000198087.7	transcript	ENST00000359314.5	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD2AP_chr6_47472789_47632263	47566323	T T	TATATATA others(15): Show TATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03492.hp1 HG03471.hp1 HG03492.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0011 a0002c0002t0001 a0001c0001t0011 a0002c0002t0001	a0001c0001t0011g0253 a0002c0002t0001g0277 a0001c0001t0011g0253 a0002c0002t0001g0277	2	322	0.0062	22	c.542 others(39): Show c.542-7740_542-7739insTATATATATATATATACACACA	CD2AP	ENSG00000198087.7	transcript	ENST00000359314.5	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD2AP_chr6_47472789_47632263	47589379	T T	TATACACA others(15): Show TATACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp1 others(79): Show HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01169.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01978.hp1 HG02055.hp1 HG02056.hp2 HG02165.hp2 HG02258.hp2 HG02300.hp2 HG02486.hp2 HG02615.hp2 HG02683.hp1 HG02717.hp2 HG02965.hp2 HG02970.hp2 HG03139.hp2 HG03471.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG03669.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp1 NA18612.hp1 NA18939.hp1 NA18941.hp1 NA18943.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18961.hp1 NA18967.hp2 NA18975.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18986.hp2 NA18988.hp1 NA18999.hp2 NA19004.hp2 NA19006.hp2 NA19009.hp2 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19055.hp1 NA19056.hp1 NA19060.hp2 NA19068.hp1 NA19078.hp2 NA19083.hp1 NA19086.hp2 NA19090.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0008 a0002c0002 others(1): Show a0001c0001 a0001c0008 a0002c0002 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0021 a0001c0001t0022 a0001c0001t0039 a0001c0001t0045 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0075 a0001c0001t0080 a0001c0008t0001 a0002c0002t0001 a0005c0007t0005	a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0213 others(79): Show a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0041 a0001c0001t0002g0062 a0001c0001t0002g0064 a0001c0001t0003g0066 a0001c0001t0003g0076 a0001c0001t0003g0089 a0001c0001t0005g0219 a0001c0001t0005g0220 a0001c0001t0005g0221 a0001c0001t0005g0241 a0001c0001t0005g0255 a0001c0001t0005g0260 a0001c0001t0005g0271 a0001c0001t0005g0272 a0001c0001t0010g0143 a0001c0001t0011g0231 a0001c0001t0011g0250 a0001c0001t0011g0251 a0001c0001t0011g0253 a0001c0001t0011g0259 a0001c0001t0015g0222 a0001c0001t0015g0262 a0001c0001t0015g0263 a0001c0001t0015g0264 a0001c0001t0021g0229 a0001c0001t0021g0230 a0001c0001t0021g0286 a0001c0001t0022g0290 a0001c0001t0039g0134 a0001c0001t0039g0135 a0001c0001t0045g0214 a0001c0001t0049g0282 a0001c0001t0050g0218 a0001c0001t0051g0287 a0001c0001t0075g0010 a0001c0001t0080g0207 a0001c0008t0001g0244 a0002c0002t0001g0276 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0001g0279 a0002c0002t0001g0280 a0002c0002t0001g0281 a0005c0007t0005g0224	82	322	0.2547	22	c.110 others(41): Show c.1109-6481_1109-6480insTACACACACACACACACACACA	CD2AP	ENSG00000198087.7	transcript	ENST00000359314.5	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr6	TogoVar

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