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
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(19): Show AAAAAAAAAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0222 a0001c0005t0004g0222	1	412	0.0024	26	c.41 others(37): Show c.4105_*4106insATATATATATATATATTTTTTTTTTT	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		3239		chr5	TogoVar
GFRA1_chr10_116051925_116278206	116205596	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03225.hp2 HG02717.hp1 HG03225.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0016 a0002c0003t0092 a0001c0001t0016 a0002c0003t0092	a0001c0001t0016g0153 a0002c0003t0092g0166 a0001c0001t0016g0153 a0002c0003t0092g0166	2	214	0.0094	26	c.433 others(43): Show c.433+6009_433+6034dupATATATATATATATATATATATATAT	GFRA1	ENSG00000151892.16	transcript	ENST00000355422.11	protein_coding	5/10			chr10	TogoVar
GFRA2_chr8_21685398_21793875	21694075	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp2 NA19002.hp2 others(2): Show NA18994.hp1 NA18994.hp2 NA19002.hp2 NA19066.hp2 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0002 a0002c0002t0003 a0001c0001t0005 a0002c0002t0002 a0002c0002t0003	a0001c0001t0005g0254 a0002c0002t0002g0095 a0002c0002t0002g0139 others(2): Show a0001c0001t0005g0254 a0002c0002t0002g0095 a0002c0002t0002g0139 a0002c0002t0002g0140 a0002c0002t0003g0288	5	322	0.0155	26	c.127 others(43): Show c.1272+388_1272+389insTATATATATATATATATATATATATA	GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	8/8			chr8	TogoVar
GFRA2_chr8_21685398_21793875	21714246	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0075 a0001c0001t0007g0075	1	322	0.0031	26	c.795 others(43): Show c.795-8206_795-8205insAAAAAAAAAAAAAAAAAAAAAAAAAA	GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	4/8			chr8	TogoVar
GFRA2_chr8_21685398_21793875	21744550	A A	AACACACA others(19): Show AACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0192 a0001c0001t0005g0192	1	322	0.0031	26	c.794 others(43): Show c.794+6012_794+6037dupGTGTGTGTGTGTGTGTGTGTGTGTGT	GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	4/8			chr8	TogoVar
GFRAL_chr6_55322469_55407493	55395173	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0204 a0004c0004t0002g0204	1	386	0.0026	26	c.953 others(43): Show c.953-4006_953-4005insTATATATATATATATATATATATATA	GFRAL	ENSG00000187871.2	transcript	ENST00000340465.2	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
GFUS_chr8_143607618_143622549	143619147	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01346.hp1 HG01975.hp1 others(20): Show HG01074.hp2 HG01346.hp1 HG01975.hp1 HG02055.hp1 HG02055.hp2 HG02280.hp1 HG02559.hp2 HG02615.hp1 HG02717.hp1 HG02922.hp2 HG02965.hp1 HG03453.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG04199.hp1 NA18940.hp2 NA18967.hp1 NA18986.hp1 NA18990.hp1 NA18990.hp2 NA19088.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0003g0005 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0003g0005	23	415	0.0554	26	c.-16 others(37): Show c.-1686_-1685insTTTTTTTTTTTTTTTTTTTTTTTTTT	GFUS	ENSG00000104522.16	transcript	ENST00000425753.7	protein_coding		1599		chr8	TogoVar
GGA2_chr16_23458542_23515494	23467387	A A	AACACACA others(19): Show AACACACACACACACACACACACACAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02922.hp2 NA21309.hp1 HG02922.hp2 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0073 a0002c0002t0074 a0002c0002t0073 a0002c0002t0074	a0002c0002t0073g0224 a0002c0002t0074g0191 a0002c0002t0073g0224 a0002c0002t0074g0191	2	254	0.0079	26	c.17 others(35): Show c.177_*202dupGTGTGTGTGTGTGTGTGTGTGTGTGT	GGA2	ENSG00000103365.15	transcript	ENST00000309859.8	protein_coding	17/17	202		chr16	TogoVar
GGCT_chr7_30491621_30509829	30500475	C C	CTCACATA others(19): Show CTCACATACAATCTGCTTTCTGAATTA	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0087 a0001c0001t0004g0087	1	444	0.0023	26	c.287 others(39): Show c.287+35_287+60dupTAATTCAGAAAGCAGATTGTATGTGA	GGCT	ENSG00000006625.18	transcript	ENST00000275428.9	protein_coding	2/3			chr7	TogoVar
GGNBP2_chr17_36539919_36594848	36548615	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA19091.hp2 NA18954.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0024 a0001c0001t0001g0025	2	357	0.0056	26	c.93+ others(41): Show c.93+2810_93+2835dupAAAAAAAAAAAAAAAAAAAAAAAAAA	GGNBP2	ENSG00000278311.5	transcript	ENST00000613102.5	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
GGNBP2_chr17_36539919_36594848	36575648	A A	ATATATAT others(19): Show ATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0234 a0001c0001t0002g0234	1	357	0.0028	26	c.642 others(43): Show c.642-2334_642-2333insATATATATATATATATTTTTTTTTTT	GGNBP2	ENSG00000278311.5	transcript	ENST00000613102.5	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
GGNBP2_chr17_36539919_36594848	36575648	A A	ATATATAT others(19): Show ATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA18967.hp1 NA19004.hp2 HG02080.hp1 NA18967.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0227 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0227 a0001c0001t0002g0243 a0001c0001t0002g0244	3	357	0.0084	26	c.642 others(43): Show c.642-2334_642-2333insATATATATATATATTTTTTTTTTTTT	GGNBP2	ENSG00000278311.5	transcript	ENST00000613102.5	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
GGNBP2_chr17_36539919_36594848	36575648	A A	ATATATAT others(19): Show ATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA19010.hp1 NA18963.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0236 a0001c0001t0002g0238 a0001c0001t0002g0236 a0001c0001t0002g0238	2	357	0.0056	26	c.642 others(43): Show c.642-2334_642-2333insATATATATATATTTTTTTTTTTTTTT	GGNBP2	ENSG00000278311.5	transcript	ENST00000613102.5	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
GGN_chr19_38379267_38393034	38380723	T T	TGTGTGTG others(19): Show TGTGTGTGTGAGCGCGCAGGTGCGCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0004 a0002c0003t0001g0004	1	392	0.0026	26	c.36 others(37): Show c.3688_*3689insGCGCGCACCTGCGCGCTCACACACAC	GGN	ENSG00000179168.15	transcript	ENST00000334928.11	protein_coding		3543		chr19	TogoVar
GGN_chr19_38379267_38393034	38380723	T T	TGTGTGTG others(19): Show TGTGTGTGTGTGCGCGCGCGTGCGCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG01891.hp2 HG03098.hp2 others(2): Show HG01361.hp2 HG01891.hp2 HG03098.hp2 HG03831.hp2 NA21309.hp1	a0002 a0009 a0013 a0002 a0009 a0013	a0002c0003 a0009c0009 a0013c0015 a0002c0003 a0009c0009 a0013c0015	a0002c0003t0001 a0009c0009t0001 a0013c0015t0003 a0002c0003t0001 a0009c0009t0001 a0013c0015t0003	a0002c0003t0001g0004 a0009c0009t0001g0015 a0013c0015t0003g0014 a0002c0003t0001g0004 a0009c0009t0001g0015 a0013c0015t0003g0014	5	392	0.0128	26	c.36 others(37): Show c.3688_*3689insGCGCGCACGCGCGCGCACACACACAC	GGN	ENSG00000179168.15	transcript	ENST00000334928.11	protein_coding		3543		chr19	TogoVar
GGT1_chr22_24598193_24633996	24605088	T T	TTATATAA others(19): Show TTATATAATATGTAATATATTATATAA	intron_variant intron_variant	MODIFIER	HG03942.hp2 NA19079.hp1 HG03942.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0153 a0001c0001t0001g0066 a0001c0001t0001g0153	2	426	0.0047	26	c.-42 others(45): Show c.-429+1574_-429+1575insATATATTATATAATATATAATATGTA	GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
GGT7_chr20_34839720_34877856	34855789	C C	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02015.hp2 HG01175.hp1 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0008 a0001c0001t0007 a0001c0001t0008	a0001c0001t0007g0240 a0001c0001t0008g0237 a0001c0001t0007g0240 a0001c0001t0008g0237	2	354	0.0057	26	c.110 others(43): Show c.1103-892_1103-867dupCACACACACACACACACACACACACA	GGT7	ENSG00000131067.17	transcript	ENST00000336431.10	protein_coding	8/14			chr20	TogoVar
GGT7_chr20_34839720_34877856	34855814	T T	TGTGTGTG others(19): Show TGTGTGTGTGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG03486.hp2 others(3): Show HG00140.hp2 HG00408.hp2 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002	a0001c0001t0002g0202 a0001c0002t0001g0038 a0001c0002t0001g0232 others(2): Show a0001c0001t0002g0202 a0001c0002t0001g0038 a0001c0002t0001g0232 a0001c0002t0002g0221 a0001c0002t0002g0224	6	354	0.0170	26	c.110 others(43): Show c.1103-892_1103-891insTCACACACACACACACACACACACAC	GGT7	ENSG00000131067.17	transcript	ENST00000336431.10	protein_coding	8/14			chr20	TogoVar
GGTA1_chr9_121450040_121504844	121496757	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAAAAAGAG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0270 a0001c0001t0002g0270	1	338	0.0030	26	c.-10 others(43): Show c.-10+2892_-10+2893insCTCTTTTTTTTTTTTTTTTTTTTTTT	GGTA1	ENSG00000204136.12	transcript	ENST00000481799.6	protein_coding	1/5			chr9	TogoVar
GHR_chr5_42418439_42726878	42419265	T T	TATATATA others(19): Show TATATATATATATGTCATATTCATGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG02280.hp1 HG02723.hp2 others(6): Show HG01167.hp1 HG02280.hp1 HG02723.hp2 HG02809.hp1 HG02976.hp2 HG03098.hp1 HG03471.hp1 HG06807.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0012 a0002c0002 others(1): Show a0001c0001 a0001c0012 a0002c0002 a0003c0005	a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 a0001c0001t0020 a0001c0012t0002 a0002c0002t0001 a0003c0005t0002	a0001c0001t0002g0103 a0001c0001t0002g0106 a0001c0001t0004g0051 others(6): Show a0001c0001t0002g0103 a0001c0001t0002g0106 a0001c0001t0004g0051 a0001c0001t0014g0104 a0001c0001t0020g0058 a0001c0012t0002g0115 a0002c0002t0001g0105 a0002c0002t0001g0107 a0003c0005t0002g0052	9	210	0.0429	26	c.-47 others(37): Show c.-4702_-4701insATATATATATATGTCATATTCATGAG	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding		4173		chr5	TogoVar
GHR_chr5_42418439_42726878	42470196	T T	TATATCTA others(19): Show TATATCTATAACATAATATATTATATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00733.hp1 NA20905.hp2 HG00280.hp2 HG00733.hp1 NA20905.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0002 a0004c0004t0017 a0001c0001t0002 a0004c0004t0017	a0001c0001t0002g0035 a0001c0001t0002g0054 a0004c0004t0017g0053 a0001c0001t0002g0035 a0001c0001t0002g0054 a0004c0004t0017g0053	3	210	0.0143	26	c.-12 others(45): Show c.-12+46242_-12+46267dupATATCTATAACATAATATATTATATA	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GHR_chr5_42418439_42726878	42474295	G G	GAGAAAGA others(19): Show GAGAAAGAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0112 a0008c0009t0001g0112	1	210	0.0048	26	c.-12 others(45): Show c.-12+50347_-12+50348insGAAAGAAAGAAAGAAAGAAAGAAAGA	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GHR_chr5_42418439_42726878	42650578	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA18522.hp1 NA20300.hp1 HG02717.hp2 NA18522.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0093 a0001c0001t0015g0094 a0001c0001t0015g0141 a0001c0001t0015g0093 a0001c0001t0015g0094 a0001c0001t0015g0141	3	210	0.0143	26	c.136 others(45): Show c.136+21499_136+21500insATATATATATATATATATATATATAT	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GIGYF2_chr2_232692331_232865605	232711705	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01884.hp1 HG02074.hp1 others(3): Show HG01099.hp2 HG01884.hp1 HG02074.hp1 HG02129.hp2 NA18946.hp1 NA18990.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0006 a0002c0001t0002 a0002c0001t0004 a0001c0003t0006 a0002c0001t0002 a0002c0001t0004	a0001c0003t0006g0130 a0002c0001t0002g0006 a0002c0001t0002g0051 others(3): Show a0001c0003t0006g0130 a0002c0001t0002g0006 a0002c0001t0002g0051 a0002c0001t0002g0116 a0002c0001t0002g0128 a0002c0001t0004g0102	6	376	0.0160	26	c.-44 others(43): Show c.-44+8238_-44+8239insTATATATATATATATATATATATATA	GIGYF2	ENSG00000204120.16	transcript	ENST00000373563.9	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
GIN1_chr5_103081000_103125138	103117581	T T	TATATACA others(19): Show TATATACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00673.hp2 others(55): Show HG00099.hp1 HG00423.hp1 HG00673.hp2 HG01099.hp1 HG01168.hp2 HG01192.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG02055.hp1 HG02109.hp1 HG02135.hp1 HG02523.hp1 HG02572.hp1 HG02818.hp1 HG02896.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03669.hp1 HG03710.hp1 HG03927.hp1 NA18939.hp2 NA18949.hp1 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18957.hp1 NA18960.hp1 NA18962.hp1 NA18965.hp2 NA18971.hp2 NA18974.hp2 NA18975.hp2 NA18980.hp1 NA18988.hp1 NA18995.hp2 NA19000.hp2 NA19009.hp2 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19072.hp2 NA19077.hp1 NA19084.hp2 NA19085.hp1 NA19089.hp2 NA20752.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0002 a0002c0002t0007 a0002c0002t0010 others(1): Show a0002c0002t0002 a0002c0002t0007 a0002c0002t0010 a0002c0004t0002	a0002c0002t0002g0002 a0002c0002t0002g0006 a0002c0002t0002g0012 others(24): Show a0002c0002t0002g0002 a0002c0002t0002g0006 a0002c0002t0002g0012 a0002c0002t0002g0020 a0002c0002t0002g0040 a0002c0002t0002g0135 a0002c0002t0002g0151 a0002c0002t0002g0152 a0002c0002t0002g0153 a0002c0002t0002g0154 a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0158 a0002c0002t0002g0160 a0002c0002t0002g0162 a0002c0002t0002g0163 a0002c0002t0002g0164 a0002c0002t0002g0165 a0002c0002t0002g0166 a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0007g0021 a0002c0002t0007g0161 a0002c0002t0010g0045 a0002c0002t0010g0159 a0002c0004t0002g0039 a0002c0004t0002g0155	58	322	0.1801	26	c.-8+ others(41): Show c.-8+2482_-8+2483insGTGTGTGTGTGTGTGTGTGTGTATAT	GIN1	ENSG00000145723.17	transcript	ENST00000399004.7	protein_coding	1/7			chr5	TogoVar
GINS2_chr16_85671198_85693954	85685670	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00673.hp1 HG01934.hp1 others(9): Show HG00558.hp2 HG00673.hp1 HG01934.hp1 NA18940.hp2 NA18953.hp1 NA18965.hp2 NA18984.hp1 NA18992.hp1 NA19000.hp2 NA19010.hp1 NA19070.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 others(3): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0012 a0001c0001t0016 a0001c0002t0005	a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0129 others(6): Show a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0129 a0001c0001t0004g0278 a0001c0001t0004g0279 a0001c0001t0010g0253 a0001c0001t0012g0221 a0001c0001t0016g0055 a0001c0002t0005g0280	12	470	0.0255	26	c.205 others(43): Show c.205+1789_205+1790insTTTTTTTTTTTTTTTTTTTTTTTTTT	GINS2	ENSG00000131153.9	transcript	ENST00000253462.8	protein_coding	2/4			chr16	TogoVar
GINS2_chr16_85671198_85693954	85685685	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01069.hp2 HG01358.hp2 others(5): Show HG00280.hp1 HG01069.hp2 HG01358.hp2 HG01884.hp1 HG02080.hp1 HG02257.hp2 HG02698.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0014 a0001c0001t0015 others(2): Show a0001c0001t0003 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0031	a0001c0001t0003g0106 a0001c0001t0014g0142 a0001c0001t0015g0140 others(4): Show a0001c0001t0003g0106 a0001c0001t0014g0142 a0001c0001t0015g0140 a0001c0001t0015g0141 a0001c0001t0017g0059 a0001c0001t0017g0299 a0001c0001t0031g0208	8	470	0.0170	26	c.205 others(43): Show c.205+1774_205+1775insGTTTTTTTTTTTTTTTTTTTTTTTTT	GINS2	ENSG00000131153.9	transcript	ENST00000253462.8	protein_coding	2/4			chr16	TogoVar
GINS4_chr8_41524261_41550030	41546849	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	426	0.0024	26	c.47 others(37): Show c.4762_*4763insTTTTTTTTTTTTTTTTTTTTTTTTTT	GINS4	ENSG00000147536.12	transcript	ENST00000276533.4	protein_coding		1820		chr8	TogoVar
GIPC1_chr19_14472762_14501127	14485702	T T	TATATATA others(19): Show TATATATAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0069 a0001c0003t0002g0069	1	444	0.0023	26	c.-30 others(43): Show c.-30-2697_-30-2696insCTCTCTCTCTCTCTCTCTCTATATAT	GIPC1	ENSG00000123159.16	transcript	ENST00000393033.9	protein_coding	3/8			chr19	TogoVar
GIPC1_chr19_14472762_14501127	14485702	T T	TATATATA others(19): Show TATATATATAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0068 a0001c0002t0002g0068	1	444	0.0023	26	c.-30 others(43): Show c.-30-2697_-30-2696insCTCTCTCTCTCTCTCTCTATATATAT	GIPC1	ENSG00000123159.16	transcript	ENST00000393033.9	protein_coding	3/8			chr19	TogoVar
GIPC1_chr19_14472762_14501127	14485702	T T	TATATATA others(19): Show TATATATATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0113 a0001c0002t0002g0113	1	444	0.0023	26	c.-30 others(43): Show c.-30-2697_-30-2696insCTCTCTCTCTCTCTATATATATATAT	GIPC1	ENSG00000123159.16	transcript	ENST00000393033.9	protein_coding	3/8			chr19	TogoVar
GIPC1_chr19_14472762_14501127	14485702	T T	TATATATA others(19): Show TATATATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01891.hp2 HG01358.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0003t0017 a0001c0002t0003 a0001c0003t0017	a0001c0002t0003g0292 a0001c0003t0017g0078 a0001c0002t0003g0292 a0001c0003t0017g0078	2	444	0.0045	26	c.-30 others(43): Show c.-30-2697_-30-2696insCTCTCTCTCTATATATATATATATAT	GIPC1	ENSG00000123159.16	transcript	ENST00000393033.9	protein_coding	3/8			chr19	TogoVar
GIP_chr17_48953554_48973596	48965138	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02886.hp1 HG02717.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0091 a0001c0001t0001g0084 a0001c0001t0001g0091	2	406	0.0049	26	c.87- others(39): Show c.87-659_87-658insTTTTTTTTTTTTTTTTTTTTTTTTTT	GIP	ENSG00000159224.4	transcript	ENST00000357424.2	protein_coding	2/5			chr17	TogoVar
GJA10_chr6_89889469_89901120	89900758	T T	TTTTATAT others(19): Show TTTTATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01256.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	386	0.0052	26	c.46 others(37): Show c.4658_*4659insTTTATATATATATATATATATATATA	GJA10	ENSG00000135355.4	transcript	ENST00000369352.1	protein_coding		4639		chr6	TogoVar
GJA8_chr1_147897795_147914269	147899925	G G	GAGAAAGA others(19): Show GAGAAAGAAAGAAAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	472	0.0021	26	c.-29 others(37): Show c.-2948_-2947insAGAAAGAAAGAAAAAGAAAGAAAGAA	GJA8	ENSG00000121634.6	transcript	ENST00000369235.2	protein_coding		2869		chr1	TogoVar
GJA9_chr1_38869069_38886587	38882338	A A	ATATATAT others(19): Show ATATATATATATTTACATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 NA18986.hp2 HG02683.hp2 NA18986.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0012 a0001c0003t0004 a0001c0003t0012	a0001c0003t0004g0037 a0001c0003t0012g0090 a0001c0003t0004g0037 a0001c0003t0012g0090	2	444	0.0045	26	c.-10 others(37): Show c.-1003_-1002insAATATATATATGTAAATATATATATA	GJA9	ENSG00000131233.10	transcript	ENST00000357771.5	protein_coding		752		chr1	TogoVar
GJB6_chr13_20216962_20237319	20218592	C C	CTTCTTTC others(19): Show CTTCTTTCTTTCTTTCTTTCTCTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0343 a0001c0001t0006g0343	1	460	0.0022	26	c.41 others(37): Show c.4102_*4103insAGAAAGAGAAAGAAAGAAAGAAAGAA	GJB6	ENSG00000121742.19	transcript	ENST00000647029.1	protein_coding		3369		chr13	TogoVar
GJB6_chr13_20216962_20237319	20229123	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	460	0.0022	26	c.-16 others(41): Show c.-16+431_-16+456dupTTTTTTTTTTTTTTTTTTTTTTTTTT	GJB6	ENSG00000121742.19	transcript	ENST00000647029.1	protein_coding	4/4			chr13	TogoVar
GK5_chr3_142152527_142230585	142159851	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0232 a0001c0001t0036g0232	1	272	0.0037	26	c.57 others(37): Show c.5770_*5771insAAAAAAAAAAAAAAAAAAAAAAAAAA	GK5	ENSG00000175066.16	transcript	ENST00000392993.7	protein_coding	16/16	5770		chr3	TogoVar
GKAP1_chr9_83734425_83822769	83779466	C C	CACACACA others(19): Show CACACACACACACACACACGCACATAT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03041.hp1 NA18940.hp1 others(5): Show HG02683.hp1 HG03041.hp1 NA18940.hp1 NA18963.hp1 NA18987.hp2 NA19060.hp1 NA19084.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0156 a0001c0001t0003g0169 a0001c0001t0003g0174 others(5): Show a0001c0001t0003g0156 a0001c0001t0003g0169 a0001c0001t0003g0174 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0182 a0001c0001t0003g0184 a0001c0001t0003g0186	8	336	0.0238	26	c.585 others(41): Show c.585+915_585+916insATATGTGCGTGTGTGTGTGTGTGTGT	GKAP1	ENSG00000165113.13	transcript	ENST00000376371.7	protein_coding	7/12			chr9	TogoVar
GK_chrX_30648423_30736462	30704128	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03225.hp1 NA18522.hp1 HG02615.hp1 HG03225.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0014 a0001c0001t0001 a0001c0001t0004 a0001c0001t0014	a0001c0001t0001g0018 a0001c0001t0004g0177 a0001c0001t0014g0185 a0001c0001t0001g0018 a0001c0001t0004g0177 a0001c0001t0014g0185	3	286	0.0105	26	c.851 others(43): Show c.851+3244_851+3245insATATATATATATATATATATATATAT	GK	ENSG00000198814.14	transcript	ENST00000427190.6	protein_coding	11/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
GLA_chrX_101392803_101412925	101407461	C C	CGAGAGAG others(19): Show CGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02970.hp2 HG03130.hp1 others(1): Show HG02145.hp1 HG02970.hp2 HG03130.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 others(1): Show a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048	4	318	0.0126	26	c.194 others(41): Show c.194+248_194+249insTCTCTCTCTCTCTCTCTCTCTCTCTC	GLA	ENSG00000102393.15	transcript	ENST00000218516.4	protein_coding	1/6			chrX	TogoVar
GLB1L3_chr11_134271379_134324564	134277524	A A	AATATGCA others(19): Show AATATGCACAGAACACGTCCTACTAAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp2 HG02257.hp2 others(4): Show HG02055.hp1 HG02145.hp2 HG02257.hp2 HG02572.hp1 HG03486.hp1 HG03540.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0014 a0001c0001 a0001c0002 a0001c0014	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0014t0001	a0001c0001t0001g0359 a0001c0002t0001g0358 a0001c0002t0001g0360 others(4): Show a0001c0001t0001g0359 a0001c0002t0001g0358 a0001c0002t0001g0360 a0001c0002t0001g0362 a0001c0002t0001g0363 a0001c0002t0002g0364 a0001c0014t0001g0361	7	422	0.0166	26	c.150 others(40): Show c.150-122_150-97dupTATGCACAGAACACGTCCTACTAACA	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GLB1L_chr2_219231598_219250444	219241465	T T	TATATATA others(19): Show TATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	410	0.0024	26	c.451 others(43): Show c.451+1048_451+1049insGTGTATATATATATATATATATATAT	GLB1L	ENSG00000163521.16	transcript	ENST00000295759.12	protein_coding	5/16			chr2	TogoVar
GLB1_chr3_32991617_33102146	33074408	G G	GAAAGAAA others(19): Show GAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01123.hp2 HG00642.hp1 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0070 a0001c0001t0001g0056 a0001c0001t0001g0070	2	394	0.0051	26	c.76- others(41): Show c.76-1696_76-1695insTTCTTTCTTTCTTTCTTTCTTTCTTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15			chr3	TogoVar
GLCCI1_chr7_7963796_8094080	7966733	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG01934.hp1 HG01993.hp2 others(4): Show HG01255.hp2 HG01934.hp1 HG01993.hp2 HG02451.hp1 HG03139.hp2 HG04115.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0030 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0030 a0001c0001t0075	a0001c0001t0001g0308 a0001c0001t0001g0345 a0001c0001t0001g0346 others(4): Show a0001c0001t0001g0308 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0361 a0001c0001t0008g0240 a0001c0001t0030g0283 a0001c0001t0075g0236	7	416	0.0168	26	c.-26 others(37): Show c.-2618_-2617insTTTTTTTTTTTTTTTTTTTTTTTTTT	GLCCI1	ENSG00000106415.13	transcript	ENST00000223145.10	protein_coding		2062		chr7	TogoVar
GLCCI1_chr7_7963796_8094080	7981238	A A	ATTTCTTT others(19): Show ATTTCTTTCTTTCTTTCTCTTTTTTTC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0015 a0005c0005t0015	a0005c0005t0015g0409 a0005c0005t0015g0409	1	416	0.0024	26	c.457 others(45): Show c.457+11448_457+11449insCTTTTTTTCTTTCTTTCTTTCTTTCT	GLCCI1	ENSG00000106415.13	transcript	ENST00000223145.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
GLDC_chr9_6527467_6650729	6593268	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0003 a0003c0009t0003	a0003c0009t0003g0315 a0003c0009t0003g0315	1	342	0.0029	26	c.126 others(43): Show c.1262-279_1262-278insATATATATATATATATATATATATAT	GLDC	ENSG00000178445.10	transcript	ENST00000321612.8	protein_coding	9/24			chr9	TogoVar
GLDC_chr9_6527467_6650729	6599720	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA20300.hp2 HG02809.hp1 NA20300.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0235 a0001c0005t0001g0238 a0001c0005t0001g0235 a0001c0005t0001g0238	2	342	0.0059	26	c.115 others(45): Show c.1155+2388_1155+2389insTTTTTTTTTTTTTTTTTTTTTTTTTT	GLDC	ENSG00000178445.10	transcript	ENST00000321612.8	protein_coding	8/24			chr9	TogoVar
GLDC_chr9_6527467_6650729	6639668	A A	AAAGTATA others(19): Show AAAGTATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01884.hp1 HG02080.hp1 others(8): Show HG01123.hp2 HG01884.hp1 HG02080.hp1 HG02165.hp2 HG03139.hp2 NA18943.hp1 NA18943.hp2 NA18982.hp1 NA19043.hp1 NA19056.hp1 NA19088.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0016 a0001c0001 a0009c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0009c0016t0002	a0001c0001t0001g0129 a0001c0001t0001g0192 a0001c0001t0001g0195 others(8): Show a0001c0001t0001g0129 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0196 a0001c0001t0009g0163 a0001c0001t0009g0164 a0001c0001t0009g0175 a0009c0016t0002g0219	11	342	0.0322	26	c.334 others(43): Show c.334+4945_334+4946insATATATATATATATATATATATACTT	GLDC	ENSG00000178445.10	transcript	ENST00000321612.8	protein_coding	2/24			chr9	TogoVar

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