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
INSYN2B_chr5_169856303_169985495	169961978	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01952.hp1 HG02109.hp1 others(2): Show HG01515.hp2 HG01952.hp1 HG02109.hp1 HG02486.hp2 HG04228.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0002c0002t0006 others(1): Show a0001c0001t0002 a0002c0002t0001 a0002c0002t0006 a0002c0002t0007	a0001c0001t0002g0191 a0002c0002t0001g0054 a0002c0002t0001g0153 others(2): Show a0001c0001t0002g0191 a0002c0002t0001g0054 a0002c0002t0001g0153 a0002c0002t0006g0285 a0002c0002t0007g0302	5	318	0.0157	19	c.-91 others(40): Show c.-919+18298_-919+18299insTTTTTTTTTTTTTTTTTTT	INSYN2B	ENSG00000204767.4	transcript	ENST00000377365.4	protein_coding	1/3			chr5	TogoVar
INTS12_chr4_105677627_105713689	105700706	A A	ACACACAC others(12): Show ACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	312	0.0032	19	c.-9- others(32): Show c.-9-693_-9-692insGTGTGTGTGTGTGTGTGTG	INTS12	ENSG00000138785.16	transcript	ENST00000340139.10	protein_coding	2/7			chr4	TogoVar
INTS15_chr7_6585021_6613726	6598735	T T	TGTGTGTG others(12): Show TGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	394	0.0025	19	c.581 others(36): Show c.581-1094_581-1093insGTGTGTGTGTGTGTGTGTG	INTS15	ENSG00000146576.13	transcript	ENST00000344417.10	protein_coding	3/5			chr7	TogoVar
INTS15_chr7_6585021_6613726	6598785	G G	GTGTGTGT others(12): Show GTGTGTGTGTGTGTGTGTAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	394	0.0025	19	c.581 others(36): Show c.581-1043_581-1042insGTGTGTGTGTGTGTGTATT	INTS15	ENSG00000146576.13	transcript	ENST00000344417.10	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr7	TogoVar
INTS15_chr7_6585021_6613726	6598786	T T	TGTGTGTG others(12): Show TGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG03098.hp1 HG03098.hp2 others(4): Show HG01099.hp2 HG03098.hp1 HG03098.hp2 NA18939.hp1 NA18959.hp1 NA18989.hp1 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0002c0004t0001 a0001c0001t0001 a0001c0001t0002 a0002c0004t0001	a0001c0001t0001g0046 a0001c0001t0001g0074 a0001c0001t0001g0088 others(4): Show a0001c0001t0001g0046 a0001c0001t0001g0074 a0001c0001t0001g0088 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0002g0113 a0002c0004t0001g0110	7	394	0.0178	19	c.581 others(36): Show c.581-1043_581-1042insGTGTGTGTGTGTGTGTGTA	INTS15	ENSG00000146576.13	transcript	ENST00000344417.10	protein_coding	3/5			chr7	TogoVar
INTS1_chr7_1465277_1509389	1506694	T T	TCCCCTCT others(12): Show TCCCCTCTCCTCCCCTCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	316	0.0032	19	c.-24 others(30): Show c.-2414_-2413insGAGGAGGGGAGGAGAGGGG	INTS1	ENSG00000164880.16	transcript	ENST00000404767.8	protein_coding		2306		chr7	TogoVar
INTS4_chr11_77873720_77999668	77935903	A A	AAAAAAGA others(12): Show AAAAAAGAAAAGAAAGAGAG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02451.hp2 HG03041.hp1 others(3): Show HG01168.hp1 HG02451.hp2 HG03041.hp1 HG03130.hp2 HG03195.hp1 HG03491.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0091 a0001c0002t0001g0126 a0001c0004t0001g0252 others(3): Show a0001c0002t0001g0091 a0001c0002t0001g0126 a0001c0004t0001g0252 a0001c0004t0001g0253 a0001c0004t0001g0254 a0001c0004t0001g0255	6	362	0.0166	19	c.116 others(38): Show c.1165+2747_1165+2748insCTCTCTTTCTTTTCTTTTT	INTS4	ENSG00000149262.19	transcript	ENST00000534064.6	protein_coding	10/22			chr11	TogoVar
INTS6_chr13_51356577_51458036	51429785	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0299 a0001c0001t0032g0299	1	358	0.0028	19	c.429 others(34): Show c.429+508_429+509insATATATATTTTTTTTTTTT	INTS6	ENSG00000102786.15	transcript	ENST00000311234.9	protein_coding	4/17			chr13	TogoVar
INTS8_chr8_94818287_94886746	94848013	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	310	0.0032	19	c.126 others(38): Show c.1261-1436_1261-1435insTTTTTTTTTTTTTTTTTTT	INTS8	ENSG00000164941.14	transcript	ENST00000523731.6	protein_coding	10/26		INFO_REALIGN_3_PRIME	chr8	TogoVar
IP6K1_chr3_49719294_49791542	49731887	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	260	0.0039	19	c.616 others(34): Show c.616+903_616+904insTTTTTTTTTTTTTTTTTTT	IP6K1	ENSG00000176095.12	transcript	ENST00000321599.9	protein_coding	4/5			chr3	TogoVar
IP6K1_chr3_49719294_49791542	49790169	C C	CTCTCTCT others(12): Show CTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0172 a0001c0001t0002g0172	1	260	0.0039	19	c.-39 others(30): Show c.-3945_-3944insAGAGAGAGAGAGAGAGAGA	IP6K1	ENSG00000176095.12	transcript	ENST00000321599.9	protein_coding		3628		chr3	TogoVar
IPCEF1_chr6_154149496_154361803	154152347	G G	GAAAGAAA others(12): Show GAAAGAAAGAAAGAAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	264	0.0038	19	c.74 others(30): Show c.7480_*7481insTTTCTTTCTTTCTTTCTTT	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding		2148		chr6	TogoVar
IPCEF1_chr6_154149496_154361803	154331405	A A	AAGAAAGA others(12): Show AAGAAAGAAAGAAAGAAGAG	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0187 a0001c0001t0003g0187	1	264	0.0038	19	c.-62 others(38): Show c.-62+25266_-62+25267insCTCTTCTTTCTTTCTTTCT	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding	1/11			chr6	TogoVar
IPMK_chr10_58186517_58272894	58211901	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03516.hp2 HG02280.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0264 a0001c0001t0005g0265 a0001c0001t0005g0264 a0001c0001t0005g0265	2	346	0.0058	19	c.546 others(36): Show c.546+4225_546+4243dupTTTTTTTTTTTTTTTTTTT	IPMK	ENSG00000151151.6	transcript	ENST00000373935.4	protein_coding	4/5			chr10	TogoVar
IPMK_chr10_58186517_58272894	58259671	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01070.hp2 HG01071.hp1 others(10): Show HG00642.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01261.hp1 HG01891.hp2 HG02615.hp1 HG02896.hp1 HG03041.hp1 HG03453.hp1 HG03540.hp2 NA18522.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0004 a0001c0001t0006 a0001c0001t0022 others(1): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0022 a0001c0004t0010	a0001c0001t0004g0282 a0001c0001t0004g0288 a0001c0001t0004g0290 others(10): Show a0001c0001t0004g0282 a0001c0001t0004g0288 a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0001t0004g0292 a0001c0001t0006g0272 a0001c0001t0006g0283 a0001c0001t0006g0284 a0001c0001t0006g0285 a0001c0001t0006g0286 a0001c0001t0006g0287 a0001c0001t0022g0289 a0001c0004t0010g0251	13	346	0.0376	19	c.190 others(36): Show c.190+7750_190+7751insTTTTTTTTTTTTTTTTTTT	IPMK	ENSG00000151151.6	transcript	ENST00000373935.4	protein_coding	1/5			chr10	TogoVar
IPO11_chr5_62407763_62633582	62470816	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02293.hp1 NA18947.hp1 HG02293.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0122 a0001c0001t0002g0120 a0001c0001t0002g0122	2	330	0.0061	19	c.708 others(34): Show c.708+519_708+537dupTTTTTTTTTTTTTTTTTTT	IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	7/29		INFO_REALIGN_3_PRIME	chr5	TogoVar
IPO11_chr5_62407763_62633582	62586762	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	330	0.0030	19	c.258 others(38): Show c.2583-4815_2583-4814insTATATATATATATATATAT	IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	27/29			chr5	TogoVar
IPO11_chr5_62407763_62633582	62586764	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp2 HG01516.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0039 a0001c0001t0001g0026 a0001c0001t0001g0039	2	330	0.0061	19	c.258 others(38): Show c.2583-4813_2583-4812insTATATATATATATATATAT	IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	27/29			chr5	TogoVar
IPO11_chr5_62407763_62633582	62586768	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0004 a0001c0004t0001g0004	1	330	0.0030	19	c.258 others(38): Show c.2583-4809_2583-4808insTATATATATATATATATAT	IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	27/29			chr5	TogoVar
IPO5_chr13_97948675_98029296	98010779	C C	CATTTTTT others(12): Show CATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0198 a0001c0007t0001g0198	1	380	0.0026	19	c.205 others(36): Show c.2055+555_2055+556insATTTTTTTTTTTTTTTTTT	IPO5	ENSG00000065150.21	transcript	ENST00000651721.2	protein_coding	20/28			chr13	TogoVar
IPO5_chr13_97948675_98029296	98010780	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02647.hp2 NA18957.hp1 others(4): Show HG02257.hp2 HG02647.hp2 NA18957.hp1 NA19056.hp1 NA19056.hp2 NA19079.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0018 a0001c0003t0001 a0001c0001t0001 a0001c0001t0018 a0001c0003t0001	a0001c0001t0001g0341 a0001c0001t0018g0190 a0001c0003t0001g0195 others(4): Show a0001c0001t0001g0341 a0001c0001t0018g0190 a0001c0003t0001g0195 a0001c0003t0001g0197 a0001c0003t0001g0200 a0001c0003t0001g0218 a0001c0003t0001g0347	7	380	0.0184	19	c.205 others(36): Show c.2055+574_2055+575insTTTTTTTTTTTTTTTTTTT	IPO5	ENSG00000065150.21	transcript	ENST00000651721.2	protein_coding	20/28		INFO_REALIGN_3_PRIME	chr13	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAAAA others(12): Show AAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02809.hp1 HG01346.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0038 a0001c0001t0003g0040 a0001c0001t0003g0038 a0001c0001t0003g0040	2	314	0.0064	19	c.85- others(34): Show c.85-5948_85-5947insAAAAAAAAATATATATATA	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAAAT others(12): Show AAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA18974.hp1 HG03098.hp2 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0264 a0001c0001t0003g0238 a0001c0001t0002g0264 a0001c0001t0003g0238	2	314	0.0064	19	c.85- others(34): Show c.85-5948_85-5947insAAAAATATATATATATATA	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAATAT others(12): Show AAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	1	314	0.0032	19	c.85- others(34): Show c.85-5948_85-5947insAAATATATATATATATATA	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9402399	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0282 a0001c0001t0004g0282	1	314	0.0032	19	c.85- others(32): Show c.85-881_85-863dupAAAAAAAAAAAAAAAAAAA	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9432989	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0042 a0001c0001t0004g0042	1	314	0.0032	19	c.188 others(36): Show c.1882-565_1882-564insTTTTTTTTTTTTTTTTTTT	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	16/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9436868	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	314	0.0032	19	c.226 others(36): Show c.2268+503_2268+504insATATATATATATATATATT	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	20/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9436868	A A	ATATATAT others(12): Show ATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	314	0.0032	19	c.226 others(36): Show c.2268+503_2268+504insATATATATATTTTTTTTTT	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	20/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9436869	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA18522.hp1 HG03471.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0078 a0001c0001t0012g0307 a0001c0001t0001g0078 a0001c0001t0012g0307	2	314	0.0064	19	c.226 others(36): Show c.2268+503_2268+504insATATATATATATATATATA	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	20/24			chr11	TogoVar
IPP_chr1_45693711_45755653	45712878	A A	AAAAATAT others(12): Show AAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0006 a0002c0004t0006	a0002c0004t0006g0076 a0002c0004t0006g0076	1	128	0.0078	19	c.153 others(38): Show c.1530+1367_1530+1368insATATATATATATATATTTT	IPP	ENSG00000197429.11	transcript	ENST00000396478.4	protein_coding	8/8			chr1	TogoVar
IQCA1_chr2_236319151_236512476	236491161	A A	ATATATAT others(12): Show ATATATATATATATACACAG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	208	0.0048	19	c.456 others(36): Show c.456+2606_456+2607insCTGTGTATATATATATATA	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	3/18			chr2	TogoVar
IQCB1_chr3_121764761_121840060	121776145	G G	GAACTCCT others(12): Show GAACTCCTGGGCTCAAGCGA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0119 a0002c0003t0001g0119	1	308	0.0033	19	c.141 others(38): Show c.1411-3451_1411-3433dupTCGCTTGAGCCCAGGAGTT	IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding	13/14			chr3	TogoVar
IQCG_chr3_197884077_197964991	197925549	C C	CCCAGGCC others(12): Show CCCAGGCCAGCTCTCTACTT	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0153 a0002c0002t0001g0153	1	280	0.0036	19	c.726 others(34): Show c.726+456_726+474dupAAGTAGAGAGCTGGCCTGG	IQCG	ENSG00000114473.14	transcript	ENST00000265239.11	protein_coding	7/11			chr3	TogoVar
IQCG_chr3_197884077_197964991	197932957	T T	TTATTATA others(12): Show TTATTATATATTATATTATA	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0044 a0002c0002t0001g0044	1	280	0.0036	19	c.516 others(34): Show c.516-674_516-656dupTATAATATAATATATAATA	IQCG	ENSG00000114473.14	transcript	ENST00000265239.11	protein_coding	5/11			chr3	TogoVar
IQCH_chr15_67249786_67506804	67340426	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	276	0.0036	19	c.508 others(36): Show c.508+3351_508+3369dupAAAAAAAAAAAAAAAAAAA	IQCH	ENSG00000103599.20	transcript	ENST00000335894.9	protein_coding	5/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
IQCH_chr15_67249786_67506804	67358207	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01081.hp1 HG01106.hp1 others(21): Show HG00544.hp2 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01261.hp2 HG02132.hp1 HG02257.hp2 HG02922.hp2 HG02965.hp2 HG03139.hp1 NA18939.hp2 NA18940.hp2 NA18947.hp2 NA18965.hp1 NA18966.hp1 NA18978.hp2 NA18984.hp2 NA19011.hp2 NA19055.hp1 NA19060.hp2 NA19067.hp2 NA19085.hp2 NA19087.hp2 NA20805.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0005 a0003c0004 others(1): Show a0001c0001 a0001c0005 a0003c0004 a0005c0008	a0001c0001t0001 a0001c0005t0001 a0003c0004t0001 others(1): Show a0001c0001t0001 a0001c0005t0001 a0003c0004t0001 a0005c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(21): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0049 a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0207 a0001c0001t0001g0225 a0001c0001t0001g0255 a0001c0005t0001g0052 a0003c0004t0001g0063 a0005c0008t0001g0048	24	276	0.0870	19	c.714 others(34): Show c.714+801_714+802insTTTTTTTTTTTTTTTTTTT	IQCH	ENSG00000103599.20	transcript	ENST00000335894.9	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
IQCJ_chr3_159064319_159268747	159092699	A A	ACACACAC others(12): Show ACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0179 a0001c0001t0002g0179	1	252	0.0040	19	c.9+2 others(34): Show c.9+23258_9+23259insCACACACACACACACACAC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3			chr3	TogoVar
IQCK_chr16_19713271_19863467	19798421	A A	AAAAAAAA others(12): Show AAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	244	0.0041	19	c.690 others(36): Show c.690+9500_690+9501insAAAAAAAAATATATATATA	IQCK	ENSG00000174628.17	transcript	ENST00000695302.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
IQCK_chr16_19713271_19863467	19861087	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0043 a0001c0001t0005g0043	1	244	0.0041	19	c.45 others(30): Show c.4539_*4540insAAAAAAAAAAAAAAAAAAA	IQCK	ENSG00000174628.17	transcript	ENST00000695302.1	protein_coding		2621		chr16	TogoVar
IQCM_chr4_149346709_149820843	149354363	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01928.hp2 HG00280.hp1 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0157 a0001c0001t0001g0046 a0001c0001t0001g0157	2	252	0.0079	19	c.139 others(38): Show c.1391-2316_1391-2298dupTTTTTTTTTTTTTTTTTTT	IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding	13/13			chr4	TogoVar
IQCM_chr4_149346709_149820843	149481702	T T	TTTTTTTT others(12): Show TTTTTTTTTTTTGTTTTTTG	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0099 a0001c0002t0001g0099	1	252	0.0040	19	c.122 others(40): Show c.1229-48146_1229-48145insCAAAAAACAAAAAAAAAAA	IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding	12/13			chr4	TogoVar
IQCM_chr4_149346709_149820843	149481705	T T	TTTTTTTT others(12): Show TTTTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18983.hp2 NA18980.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0203 a0001c0001t0002g0211 a0001c0001t0002g0203 a0001c0001t0002g0211	2	252	0.0079	19	c.122 others(40): Show c.1229-48149_1229-48148insCAAAAAAAAAAAAAAAAAA	IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding	12/13			chr4	TogoVar
IQGAP1_chr15_90383242_90507239	90496306	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03486.hp2 HG02109.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0038 a0001c0002t0003g0294 a0001c0002t0003g0038 a0001c0002t0003g0294	2	360	0.0056	19	c.475 others(36): Show c.4752-915_4752-897dupTTTTTTTTTTTTTTTTTTT	IQGAP1	ENSG00000140575.13	transcript	ENST00000268182.10	protein_coding	36/37		INFO_REALIGN_3_PRIME	chr15	TogoVar
IQGAP2_chr5_76398285_76713132	76496725	T T	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02056.hp2 HG02523.hp1 others(7): Show HG00639.hp1 HG02056.hp2 HG02523.hp1 HG04115.hp1 HG04228.hp1 HG04228.hp2 NA18945.hp1 NA18992.hp2 NA18995.hp1 NA20300.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0011 a0012	a0001c0002 a0001c0003 a0002c0001 others(7): Show a0001c0002 a0001c0003 a0002c0001 a0003c0004 a0003c0036 a0004c0005 a0004c0007 a0005c0017 a0011c0032 a0012c0016	a0001c0002t0005 a0001c0003t0005 a0002c0001t0001 others(7): Show a0001c0002t0005 a0001c0003t0005 a0002c0001t0001 a0003c0004t0007 a0003c0036t0006 a0004c0005t0001 a0004c0007t0006 a0005c0017t0005 a0011c0032t0003 a0012c0016t0006	a0001c0002t0005g0053 a0001c0003t0005g0032 a0002c0001t0001g0090 others(7): Show a0001c0002t0005g0053 a0001c0003t0005g0032 a0002c0001t0001g0090 a0003c0004t0007g0002 a0003c0036t0006g0017 a0004c0005t0001g0089 a0004c0007t0006g0054 a0005c0017t0005g0005 a0011c0032t0003g0146 a0012c0016t0006g0057	10	222	0.0451	19	c.146 others(38): Show c.146+35058_146+35059insCTTTCTTTCTTTCTTTCTT	IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
IQGAP2_chr5_76398285_76713132	76644295	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03453.hp1 HG02717.hp1 HG03453.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0002 a0006c0008t0003 a0006c0008t0002 a0006c0008t0003	a0006c0008t0002g0103 a0006c0008t0003g0120 a0006c0008t0002g0103 a0006c0008t0003g0120	2	222	0.0090	19	c.209 others(38): Show c.2094+3196_2094+3214dupTTTTTTTTTTTTTTTTTTT	IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	17/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
IQSEC2_chrX_53227876_53326350	53311121	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp1 HG01069.hp1 others(34): Show HG00280.hp1 HG00642.hp1 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01123.hp2 HG01169.hp1 HG01192.hp1 HG01258.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01891.hp1 HG01943.hp1 HG01952.hp1 HG02165.hp1 HG02615.hp2 HG02896.hp1 HG03098.hp1 NA18942.hp1 NA18945.hp1 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18960.hp1 NA18962.hp1 NA18970.hp1 NA18983.hp1 NA19001.hp2 NA19007.hp1 NA19010.hp2 NA19060.hp1 NA19066.hp1 NA19082.hp1 NA19085.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0005t0001	a0001c0001t0001g0019 a0001c0001t0001g0072 a0001c0001t0001g0074 others(34): Show a0001c0001t0001g0019 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0136 a0001c0001t0001g0155 a0001c0001t0001g0179 a0001c0001t0002g0073 a0001c0001t0002g0087 a0001c0001t0002g0096 a0001c0001t0004g0178 a0001c0005t0001g0075 a0001c0005t0001g0077	37	213	0.1737	19	c.707 others(36): Show c.707+9295_707+9296insTTTTTTTTTTTTTTTTTTT	IQSEC2	ENSG00000124313.19	transcript	ENST00000642864.1	protein_coding	1/14			chrX	TogoVar
IQSEC2_chrX_53227876_53326350	53323893	A A	ACACACAC others(12): Show ACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0152 a0001c0003t0001g0152	1	213	0.0047	19	c.-27 others(30): Show c.-2771_-2770insGTGTGTGTGTGTGTGTGTG	IQSEC2	ENSG00000124313.19	transcript	ENST00000642864.1	protein_coding		2544		chrX	TogoVar
IQSEC3_chr12_61767_183455	103868	G G	GGGAGGGG others(12): Show GGGAGGGGAGGCGGGGCTCA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0101 a0001c0003t0001g0101	1	282	0.0036	19	c.623 others(36): Show c.623+4669_623+4670insCTCAGGAGGGGAGGCGGGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
IQUB_chr7_123447193_123539595	123521651	A A	ACACACAC others(12): Show ACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	370	0.0027	19	c.-4- others(34): Show c.-4-9308_-4-9307insGTGTGTGTGTGTGTGTGTG	IQUB	ENSG00000164675.11	transcript	ENST00000324698.11	protein_coding	1/12			chr7	TogoVar
IRAG2_chr12_25047706_25113335	25108825	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	344	0.0029	19	c.76 others(28): Show c.765_*766insAAAAAAAAAAAAAAAAAAA	IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding		491		chr12	TogoVar

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