Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
INSC_chr11_15109923_15252208	15113145	C C	CTTTCTTT others(39): Show CTTTCTTTCTTTCTTTCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0245 a0004c0006t0001g0245	1	270	0.0037	46	c.-19 others(57): Show c.-1904_-1903insTTTCTTTCTTTCTTTCTTCCTTTCTTTCTTTCTT TCTTTCTTTCTT	INSC	ENSG00000188487.12	transcript	ENST00000379556.8	protein_coding		1777		chr11	TogoVar
INTS4_chr11_77873720_77999668	77920232	C C	CACATATA others(39): Show CACATATATATACACATATATATACACATATACATACATATATACAT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0308 a0001c0001t0001g0308	1	362	0.0028	46	c.176 others(65): Show c.1764+1107_1764+1108insATGTATATATGTATGTATATGTGTAT ATATATGTGTATATATATGT	INTS4	ENSG00000149262.19	transcript	ENST00000534064.6	protein_coding	14/22			chr11	TogoVar
INTS9_chr8_28762661_28894969	28881674	C C	CCGGCCAG others(39): Show CCGGCCAGCCGCCCCGTACGGGAGGGAGGCGGGGGGGGGGGGGGGGT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0352 a0001c0001t0001g0352	1	358	0.0028	46	c.9+8 others(59): Show c.9+8199_9+8200insACCCCCCCCCCCCCCCCGCCTCCCTCCCGTAC GGGGCGGCTGGCCG	INTS9	ENSG00000104299.15	transcript	ENST00000521022.6	protein_coding	1/16			chr8	TogoVar
INTU_chr4_127627957_127731737	127691980	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0028 a0005c0008t0028	a0005c0008t0028g0133 a0005c0008t0028g0133	1	358	0.0028	46	c.144 others(65): Show c.1449+4114_1449+4115insATATATATATATATATATATATATAT ATATATATATATATGTGTGT	INTU	ENSG00000164066.13	transcript	ENST00000335251.11	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
IPO11_chr5_62407763_62633582	62435082	G G	GTATATAT others(39): Show GTATATATATGTGTATATATGTATATATGTGTATATATGTATATATA	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	330	0.0030	46	c.-6- others(61): Show c.-6-2191_-6-2190insATATATATGTGTATATATGTATATATGTGT ATATATGTATATATAT	IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr5	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAAAA others(39): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01952.hp1 HG01192.hp2 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0128 a0001c0001t0001g0083 a0001c0001t0001g0128	2	314	0.0064	46	c.85- others(61): Show c.85-5948_85-5947insAAAAAAAAAAAAAATATATATATATATATA TATATATATATATATA	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAAAA others(39): Show AAAAAAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	314	0.0032	46	c.85- others(61): Show c.85-5948_85-5947insAAAAAAAAAAAATATATATATATATATATA TATATATATATATATA	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAAAA others(39): Show AAAAAAAAAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	314	0.0032	46	c.85- others(61): Show c.85-5948_85-5947insAAAAAAAAAATATATATATATATATATATA TATATATATATATATA	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAAAA others(39): Show AAAAAAAAAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19012.hp1 NA19070.hp2 NA19007.hp1 NA19012.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0022 a0001c0001t0001g0097 a0001c0001t0002g0254 a0001c0001t0001g0022 a0001c0001t0001g0097 a0001c0001t0002g0254	3	314	0.0096	46	c.85- others(61): Show c.85-5948_85-5947insAAAAAAAATATATATATATATATATATATA TATATATATATATATA	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAAAA others(39): Show AAAAAAAATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	314	0.0032	46	c.85- others(61): Show c.85-5948_85-5947insAAAAAATATATATATATATATATATATATA TATATATATATATATA	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9397361	T T	TATATATA others(39): Show TATATATATATATATATATATATATATATATATATATATATATATTA	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	314	0.0032	46	c.85- others(61): Show c.85-5925_85-5924insATATATATATATATATATATATATATATAT ATATATATATTAATAT	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IQCA1_chr2_236319151_236512476	236347508	C C	CTATATAT others(39): Show CTATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	208	0.0048	46	c.187 others(65): Show c.1870-2866_1870-2865insTATATATATATATATATATATATATA TATATATATATATATATATA	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	15/18			chr2	TogoVar
IQCM_chr4_149346709_149820843	149626392	C C	CATATATA others(39): Show CATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp2 NA18959.hp1 HG03927.hp2 NA18959.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0053 a0001c0002t0002g0174 a0001c0002t0001g0053 a0001c0002t0002g0174	2	252	0.0079	46	c.566 others(63): Show c.566-5149_566-5148insATATATATATATATATATATATATATAT ATATATATATATATATAT	IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding	7/13			chr4	TogoVar
IQCN_chr19_18252098_18279452	18278106	C C	CTGACTTC others(39): Show CTGACTTCTGACCTGAGAGATGTTATGCTGGATGCAAACACCCGCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	434	0.0023	46	c.-38 others(57): Show c.-3814_-3813insATGCGGGTGTTTGCATCCAGCATAACATCTCTCA GGTCAGAAGTCA	IQCN	ENSG00000130518.18	transcript	ENST00000392413.5	protein_coding		3655		chr19	TogoVar
IREB2_chr15_78433216_78506453	78434342	G G	GCATGTGT others(39): Show GCATGTGTGCGCGTGCGCGCGCGCACGCGCACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0365 a0001c0002t0005g0365	1	420	0.0024	46	c.-39 others(57): Show c.-3996_-3995insCATGTGTGCGCGTGCGCGCGCGCACGCGCACACA CACACACACACA	IREB2	ENSG00000136381.13	transcript	ENST00000258886.13	protein_coding		3873		chr15	TogoVar
IREB2_chr15_78433216_78506453	78434342	G G	GCATGTGT others(39): Show GCATGTGTGCGCGTGCGCGCGCGCGCGCACACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp2 NA19079.hp1 NA19240.hp2 NA19058.hp2 NA19079.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0004 a0002c0003t0010 a0001c0002t0004 a0002c0003t0010	a0001c0002t0004g0013 a0001c0002t0004g0170 a0002c0003t0010g0128 a0001c0002t0004g0013 a0001c0002t0004g0170 a0002c0003t0010g0128	3	420	0.0071	46	c.-39 others(57): Show c.-3996_-3995insCATGTGTGCGCGTGCGCGCGCGCGCGCACACACA CACACACACACA	IREB2	ENSG00000136381.13	transcript	ENST00000258886.13	protein_coding		3873		chr15	TogoVar
IREB2_chr15_78433216_78506453	78434342	G G	GCATGTGT others(39): Show GCATGTGTGCGCGTGCGCGCGCGCGCGCGCACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 NA19030.hp1 HG02080.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0004 a0001c0001t0007 a0001c0002t0004	a0001c0001t0007g0334 a0001c0002t0004g0156 a0001c0001t0007g0334 a0001c0002t0004g0156	2	420	0.0048	46	c.-39 others(57): Show c.-3996_-3995insCATGTGTGCGCGTGCGCGCGCGCGCGCGCACACA CACACACACACA	IREB2	ENSG00000136381.13	transcript	ENST00000258886.13	protein_coding		3873		chr15	TogoVar
IREB2_chr15_78433216_78506453	78434342	G G	GCATGTGT others(39): Show GCATGTGTGCGCGTGCGCGCGCGCGCGCGCGCACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG03195.hp2 HG03209.hp2 others(1): Show HG02896.hp1 HG03195.hp2 HG03209.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009	a0001c0001t0006g0110 a0001c0001t0007g0339 a0001c0001t0009g0018 a0001c0001t0006g0110 a0001c0001t0007g0339 a0001c0001t0009g0018	4	420	0.0095	46	c.-39 others(57): Show c.-3996_-3995insCATGTGTGCGCGTGCGCGCGCGCGCGCGCGCACA CACACACACACA	IREB2	ENSG00000136381.13	transcript	ENST00000258886.13	protein_coding		3873		chr15	TogoVar
IREB2_chr15_78433216_78506453	78434342	G G	GCATGTGT others(39): Show GCATGTGTGCGCGTGCGCGCGCGCGCGCGCGCGCACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp1 NA18983.hp2 NA19081.hp2 others(1): Show HG02897.hp1 NA18983.hp2 NA19081.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0020 a0001c0001t0007 a0001c0001t0020	a0001c0001t0007g0026 a0001c0001t0007g0335 a0001c0001t0007g0337 others(1): Show a0001c0001t0007g0026 a0001c0001t0007g0335 a0001c0001t0007g0337 a0001c0001t0020g0125	4	420	0.0095	46	c.-39 others(57): Show c.-3996_-3995insCATGTGTGCGCGTGCGCGCGCGCGCGCGCGCGCA CACACACACACA	IREB2	ENSG00000136381.13	transcript	ENST00000258886.13	protein_coding		3873		chr15	TogoVar
IREB2_chr15_78433216_78506453	78434342	G G	GCATGTGT others(39): Show GCATGTGTGCGCGTGCGCGCGCGCGCGCGCGCGCGCGCGCACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0025 a0001c0001t0008g0025	1	420	0.0024	46	c.-39 others(57): Show c.-3996_-3995insCATGTGTGCGCGTGCGCGCGCGCGCGCGCGCGCG CGCGCACACACA	IREB2	ENSG00000136381.13	transcript	ENST00000258886.13	protein_coding		3873		chr15	TogoVar
IREB2_chr15_78433216_78506453	78434342	G G	GCATGTGT others(39): Show GCATGTGTGCGCGTGCGCGCGCGCGCGCGCGCGCGCGCGCGCACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0318 a0001c0001t0008g0318	1	420	0.0024	46	c.-39 others(57): Show c.-3996_-3995insCATGTGTGCGCGTGCGCGCGCGCGCGCGCGCGCG CGCGCGCACACA	IREB2	ENSG00000136381.13	transcript	ENST00000258886.13	protein_coding		3873		chr15	TogoVar
IRF3_chr19_49654572_49670857	49659984	T T	TACACACA others(39): Show TACACACACACACATATACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01934.hp1 NA18992.hp1 HG00642.hp1 HG01934.hp1 NA18992.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0057 a0002c0001t0002g0173 a0002c0001t0002g0057 a0002c0001t0002g0173	3	400	0.0075	46	c.109 others(63): Show c.1099-152_1099-151insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTATATGTGTGTGTGTGT	IRF3	ENSG00000126456.16	transcript	ENST00000377139.8	protein_coding	7/7			chr19	TogoVar
IRF3_chr19_49654572_49670857	49659984	T T	TACACACA others(39): Show TACACACACACACATATATACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0168 a0002c0001t0002g0168	1	400	0.0025	46	c.109 others(63): Show c.1099-152_1099-151insGTGTGTGTGTGTGTGTGTGTGTGTGTGT ATATATGTGTGTGTGTGT	IRF3	ENSG00000126456.16	transcript	ENST00000377139.8	protein_coding	7/7			chr19	TogoVar
IRX6_chr16_55319203_55335756	55325532	A A	AAGGAAGG others(39): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0094 a0003c0003t0003g0094	1	448	0.0022	46	c.45+ others(59): Show c.45+396_45+397insAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAG	IRX6	ENSG00000159387.8	transcript	ENST00000290552.8	protein_coding	1/5			chr16	TogoVar
IRX6_chr16_55319203_55335756	55325567	A A	AAGAAAGA others(39): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	448	0.0022	46	c.45+ others(59): Show c.45+434_45+435insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAGAGAGAGAGA	IRX6	ENSG00000159387.8	transcript	ENST00000290552.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGAM_chr16_31254975_31337877	31302396	T T	TTTCTTTC others(39): Show TTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG06807.hp2 HG02486.hp2 HG06807.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0027 a0003c0004t0005g0095 a0003c0004t0005g0027 a0003c0004t0005g0095	2	244	0.0082	46	c.170 others(65): Show c.1707+4444_1707+4445insCTTTCTTTCTTTCTTTCTTTCTTCTT TCTTTCTTTCTTTCTTTCTT	ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding	14/29		INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGBL1_chr13_101447675_101721446	101604887	T T	TATATATA others(39): Show TATATATATATATATACATATATATATATGTATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	306	0.0033	46	c.101 others(65): Show c.1015+6589_1015+6590insTATATATATATATACATATATATATA TGTATATATATATATACACA	ITGBL1	ENSG00000198542.15	transcript	ENST00000376180.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
ITLN1_chr1_160871540_160890180	160873767	C C	CATATATA others(39): Show CATATATATATATATATATATATACGTATATATATACATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 NA18948.hp2 NA18982.hp2 HG02922.hp2 NA18948.hp2 NA18982.hp2	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0001 a0004c0017 a0008c0015 a0001c0001 a0004c0017 a0008c0015	a0001c0001t0001 a0004c0017t0001 a0008c0015t0001 a0001c0001t0001 a0004c0017t0001 a0008c0015t0001	a0001c0001t0001g0001 a0004c0017t0001g0047 a0008c0015t0001g0069 a0001c0001t0001g0001 a0004c0017t0001g0047 a0008c0015t0001g0069	3	428	0.0070	46	c.28 others(57): Show c.2896_*2897insATATATATATGTATATATATACGTATATATATAT ATATATATATAT	ITLN1	ENSG00000179914.5	transcript	ENST00000326245.4	protein_coding		2772		chr1	TogoVar
ITLN1_chr1_160871540_160890180	160873767	C C	CATATATA others(39): Show CATATATATATATATATATATATATATACGTATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0031 a0001c0004t0001g0031	1	428	0.0023	46	c.28 others(57): Show c.2896_*2897insATATATATATATATATACGTATATATATATATAT ATATATATATAT	ITLN1	ENSG00000179914.5	transcript	ENST00000326245.4	protein_coding		2772		chr1	TogoVar
ITLN1_chr1_160871540_160890180	160873767	C C	CATATATA others(39): Show CATATATATATATATATATATATATATATACGTATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0031 a0001c0004t0001g0031	1	428	0.0023	46	c.28 others(57): Show c.2896_*2897insATATATATATATATACGTATATATATATATATAT ATATATATATAT	ITLN1	ENSG00000179914.5	transcript	ENST00000326245.4	protein_coding		2772		chr1	TogoVar
ITSN1_chr21_33637501_33904861	33690775	G G	GTATATAT others(39): Show GTATATATATATATACATATATATACATATATATATATACATATATA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0043 a0001c0005t0004g0043	1	242	0.0041	46	c.-32 others(65): Show c.-32-27998_-32-27997insCATATATATATATACATATATATATA TATATATATACATATATATA	ITSN1	ENSG00000205726.15	transcript	ENST00000381318.8	protein_coding	1/39		INFO_REALIGN_3_PRIME	chr21	TogoVar
IZUMO3_chr9_24537952_24550897	24546425	C C	CTTTCTTC others(39): Show CTTTCTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0003 a0004c0005t0003	a0004c0005t0003g0044 a0004c0005t0003g0044	1	426	0.0024	46	c.-77 others(55): Show c.-777_-776insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAG AAAGAAGAAA	IZUMO3	ENSG00000205442.13	transcript	ENST00000543880.7	protein_coding		529		chr9	TogoVar
JAKMIP2_chr5_147580438_147787728	147742155	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0026 a0001c0004t0026	a0001c0004t0026g0181 a0001c0004t0026g0181	1	250	0.0040	46	c.-14 others(67): Show c.-149+40300_-149+40301insAAAAAATATATATATATATATATA TATATATATATATATATATATA	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP2_chr5_147580438_147787728	147742155	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0087 a0001c0002t0011g0087	1	250	0.0040	46	c.-14 others(67): Show c.-149+40300_-149+40301insAAAAAAAATATATATATATATATA TATATATATATATATATATATA	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP3_chr10_132060946_132189858	132116743	T T	TGTGTGAG others(39): Show TGTGTGAGTGTGTGCATCATGGACGCTCCCCCCGAATACACATTCAG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp2 HG00639.hp1 others(22): Show HG00423.hp2 HG00597.hp2 HG00639.hp1 HG01346.hp1 HG02027.hp1 HG02074.hp1 HG02074.hp2 HG02129.hp2 HG02922.hp2 HG03017.hp2 HG03130.hp2 HG03491.hp2 HG03492.hp2 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 NA18944.hp2 NA18960.hp1 NA18966.hp2 NA18971.hp1 NA18983.hp1 NA19004.hp2 NA19088.hp2 NA19091.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0008 a0002c0010 others(5): Show a0001c0001 a0002c0008 a0002c0010 a0003c0002 a0003c0018 a0003c0021 a0004c0007 a0004c0036	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0021 a0002c0008t0018 a0002c0010t0002 a0003c0002t0001 a0003c0002t0002 a0003c0018t0002 a0003c0021t0001 a0004c0007t0001 a0004c0007t0002 a0004c0036t0001	a0001c0001t0001g0116 a0001c0001t0002g0007 a0001c0001t0002g0027 others(22): Show a0001c0001t0001g0116 a0001c0001t0002g0007 a0001c0001t0002g0027 a0001c0001t0002g0105 a0001c0001t0002g0146 a0001c0001t0002g0156 a0001c0001t0004g0127 a0001c0001t0021g0119 a0002c0008t0018g0120 a0002c0010t0002g0157 a0002c0010t0002g0158 a0003c0002t0001g0013 a0003c0002t0001g0109 a0003c0002t0001g0110 a0003c0002t0001g0112 a0003c0002t0001g0113 a0003c0002t0002g0107 a0003c0002t0002g0111 a0003c0018t0002g0028 a0003c0018t0002g0117 a0003c0021t0001g0022 a0003c0021t0001g0023 a0004c0007t0001g0122 a0004c0007t0002g0121 a0004c0036t0001g0039	25	158	0.1582	46	c.136 others(61): Show c.136-226_136-181dupTCATGGACGCTCCCCCCGAATACACATTCA GGTGTGAGTGTGTGCA	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JARID2_chr6_15241069_15527042	15465536	C C	CAACATAA others(39): Show CAACATAAACTCAATCCTCACCCTAACATAAACTCAATCCTCACCCT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0018 a0001c0007t0018	a0001c0007t0018g0016 a0001c0007t0018g0016	1	284	0.0035	46	c.494 others(63): Show c.494-3005_494-2960dupAACATAAACTCAATCCTCACCCTAACAT AAACTCAATCCTCACCCT	JARID2	ENSG00000008083.14	transcript	ENST00000341776.7	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
JOSD2_chr19_50500998_50516191	50502548	A A	ATTTTTTT others(39): Show ATTTTTTTTTTCCTTTTTTTGTTGTTTTTTTTTCGTTCTTTTTTATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	376	0.0027	46	c.36 others(57): Show c.3624_*3625insGATAAAAAAGAACGAAAAAAAAACAACAAAAAAA GGAAAAAAAAAA	JOSD2	ENSG00000161677.12	transcript	ENST00000598418.6	protein_coding		3449		chr19	TogoVar
JPH2_chr20_44101590_44192188	44126139	A A	AGAGAGAG others(39): Show AGAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA19084.hp1 NA18968.hp2 NA19084.hp1	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0064 a0002c0005t0004 a0002c0002t0064 a0002c0005t0004	a0002c0002t0064g0102 a0002c0005t0004g0219 a0002c0002t0064g0102 a0002c0005t0004g0219	2	338	0.0059	46	c.117 others(65): Show c.1170-7517_1170-7516insCCTCCCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCTCTCTCTCTC	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH3_chr16_87597508_87703156	87688439	T T	TGTCTCCC others(39): Show TGTCTCCCAGACCTTCTCCTGCCAAAAGGTCAGACTGGGGTACAGGC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0003 a0001c0014t0003	a0001c0014t0003g0264 a0001c0014t0003g0264	1	380	0.0026	46	c.128 others(65): Show c.1286-1160_1286-1115dupGTCTCCCAGACCTTCTCCTGCCAAAA GGTCAGACTGGGGTACAGGC	JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
JUND_chr19_18274694_18286622	18278106	C C	CTGACTTC others(39): Show CTGACTTCTGACCTGAGAGATGTTATGCTGGATGCAAACACCCGCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0000 a0001c0001t0009g0000	1	408	0.0025	46	c.23 others(57): Show c.2334_*2335insATGCGGGTGTTTGCATCCAGCATAACATCTCTCA GGTCAGAAGTCA	JUND	ENSG00000130522.6	transcript	ENST00000252818.5	protein_coding		1587		chr19	TogoVar
JUP_chr17_41749609_41791711	41788761	C C	CCAACCTT others(39): Show CCAACCTTCAAAGAGCTCATCCTGGTGACACAGGAAATAAAAATGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0024 a0002c0003t0024	a0002c0003t0024g0389 a0002c0003t0024g0389	1	410	0.0024	46	c.-21 others(57): Show c.-2183_-2182insATCATTTTTATTTCCTGTGTCACCAGGATGAGCT CTTTGAAGGTTG	JUP	ENSG00000173801.17	transcript	ENST00000393931.8	protein_coding		2051		chr17	TogoVar
KANK4_chr1_62231165_62324434	62278400	T T	TCTTTCTT others(39): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTATTTCTTTC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01261.hp2 HG01346.hp1 others(17): Show HG00140.hp2 HG01261.hp2 HG01346.hp1 HG01928.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp2 HG02615.hp2 HG02738.hp1 HG02965.hp1 HG03834.hp1 NA18941.hp1 NA18944.hp2 NA18953.hp2 NA18982.hp2 NA18985.hp1 NA18991.hp1 NA19085.hp2 NA19087.hp2 NA19090.hp2	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0002c0050 a0011c0021 a0001c0001 a0002c0050 a0011c0021	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0002c0050t0010 a0011c0021t0001	a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0046 others(17): Show a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0084 a0001c0001t0001g0229 a0001c0001t0001g0246 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0003g0031 a0001c0001t0003g0076 a0001c0001t0003g0125 a0001c0001t0003g0298 a0001c0001t0004g0268 a0001c0001t0008g0013 a0001c0001t0008g0247 a0001c0001t0008g0266 a0002c0050t0010g0227 a0011c0021t0001g0230	20	322	0.0621	46	c.16+ others(61): Show c.16+3148_16+3149insGAAAGAAATAAAGAAAGAAAAGAAAGAAAG AAAGAAAGAAAGAAAG	KANK4	ENSG00000132854.19	transcript	ENST00000371153.9	protein_coding	2/9			chr1	TogoVar
KANSL2_chr12_48648211_48687238	48672433	A A	ATATATAT others(39): Show ATATATATATATACGTATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03453.hp2 HG03139.hp1 HG03453.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0045 a0002c0004t0001g0046 a0002c0004t0001g0045 a0002c0004t0001g0046	2	322	0.0062	46	c.546 others(61): Show c.546-472_546-471insAAAAAAAAAATATATATATATATATATATA TACGTATATATATATA	KANSL2	ENSG00000139620.13	transcript	ENST00000420613.7	protein_coding	4/9			chr12	TogoVar
KANSL2_chr12_48648211_48687238	48672433	A A	ATATATAT others(39): Show ATATATATATATACGTATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0048 a0002c0004t0001g0048	1	322	0.0031	46	c.546 others(61): Show c.546-472_546-471insAAAAAAAAAAAATATATATATATATATATA TACGTATATATATATA	KANSL2	ENSG00000139620.13	transcript	ENST00000420613.7	protein_coding	4/9			chr12	TogoVar
KARS1_chr16_75622724_75652665	75624114	C C	CATATATA others(39): Show CATATATATATATGTGTGTGTGTGTATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	380	0.0026	46	c.37 others(57): Show c.3780_*3781insATATATATATATATATATATATACACACACACAC ATATATATATAT	KARS1	ENSG00000065427.15	transcript	ENST00000302445.8	protein_coding		3609		chr16	TogoVar
KAZN_chr1_14593685_15123043	15036278	A A	ACCCAGCT others(39): Show ACCCAGCTCCCCCCACCCTGCCCGCCCAGCTCCCCCTGCCCTGCCCG	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0017 a0002c0002t0001g0017	1	146	0.0069	46	c.555 others(63): Show c.555+1403_555+1404insCCCACCCTGCCCGCCCAGCTCCCCCTGC CCTGCCCGCCCAGCTCCC	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	15036278	A A	ACCCAGCT others(39): Show ACCCAGCTCCCCCCGCCCTGCCCGCCCAGCTCCCCCTGCCCTGCCCG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00621.hp2 HG01099.hp1 others(30): Show HG00099.hp1 HG00621.hp2 HG01099.hp1 HG01106.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01192.hp2 HG01258.hp1 HG01361.hp1 HG02040.hp1 HG02109.hp1 HG02273.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02630.hp2 HG02738.hp1 HG02922.hp1 HG02965.hp2 HG03017.hp1 HG03471.hp1 HG03492.hp1 HG03492.hp2 HG03654.hp2 HG03834.hp2 HG04199.hp2 HG06807.hp2 NA19005.hp1 NA20129.hp1 NA20752.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0002c0004 others(4): Show a0001c0001 a0002c0002 a0002c0004 a0002c0006 a0002c0007 a0003c0010 a0004c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0016 a0001c0001t0027 a0001c0001t0031 a0002c0002t0001 a0002c0004t0001 a0002c0004t0024 a0002c0006t0006 a0002c0007t0001 a0003c0010t0002 a0004c0009t0001	a0001c0001t0001g0052 a0001c0001t0002g0003 a0001c0001t0002g0101 others(30): Show a0001c0001t0001g0052 a0001c0001t0002g0003 a0001c0001t0002g0101 a0001c0001t0003g0050 a0001c0001t0003g0139 a0001c0001t0007g0111 a0001c0001t0008g0043 a0001c0001t0008g0142 a0001c0001t0009g0115 a0001c0001t0011g0118 a0001c0001t0016g0096 a0001c0001t0027g0016 a0001c0001t0031g0049 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0015 a0002c0002t0001g0031 a0002c0002t0001g0041 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0071 a0002c0002t0001g0073 a0002c0002t0001g0106 a0002c0002t0001g0114 a0002c0004t0001g0089 a0002c0004t0001g0113 a0002c0004t0024g0059 a0002c0006t0006g0012 a0002c0006t0006g0112 a0002c0007t0001g0001 a0002c0007t0001g0008 a0003c0010t0002g0066 a0004c0009t0001g0034	33	146	0.2260	46	c.555 others(63): Show c.555+1403_555+1404insCCCGCCCTGCCCGCCCAGCTCCCCCTGC CCTGCCCGCCCAGCTCCC	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCMF1_chr2_84966161_85064472	85008354	A A	ATCATATA others(39): Show ATCATATATAATATATATCATATATAATATGACATATAATATATATG	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18973.hp2 NA19005.hp1 NA18967.hp2 NA18973.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029	a0001c0001t0027g0012 a0001c0001t0028g0011 a0001c0001t0029g0013 a0001c0001t0027g0012 a0001c0001t0028g0011 a0001c0001t0029g0013	3	274	0.0110	46	c.17- others(63): Show c.17-19535_17-19534insTCATATATAATATATATCATATATAATA TGACATATAATATATATG	KCMF1	ENSG00000176407.18	transcript	ENST00000409785.9	protein_coding	1/6			chr2	TogoVar
KCMF1_chr2_84966161_85064472	85008354	A A	ATCATATA others(39): Show ATCATATATAATATATATCATATATAATATGACATATATTATATATG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01255.hp1 NA19079.hp1 others(1): Show HG00733.hp1 HG01255.hp1 NA19079.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0031 a0001c0001t0033 a0001c0001t0007 a0001c0001t0031 a0001c0001t0033	a0001c0001t0007g0003 a0001c0001t0007g0006 a0001c0001t0031g0010 others(1): Show a0001c0001t0007g0003 a0001c0001t0007g0006 a0001c0001t0031g0010 a0001c0001t0033g0008	4	274	0.0146	46	c.17- others(63): Show c.17-19535_17-19534insTCATATATAATATATATCATATATAATA TGACATATATTATATATG	KCMF1	ENSG00000176407.18	transcript	ENST00000409785.9	protein_coding	1/6			chr2	TogoVar
KCNB2_chr8_72532225_72943349	72920455	A A	ATATATAT others(39): Show ATATATATATATATATGTGTGTGTGTATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00558.hp1 HG00673.hp1 others(6): Show HG00140.hp2 HG00558.hp1 HG00673.hp1 HG01109.hp2 HG01169.hp2 HG01175.hp1 HG01261.hp2 HG02258.hp2 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0028 a0001c0001t0001g0119 a0001c0001t0002g0087 others(6): Show a0001c0001t0001g0028 a0001c0001t0001g0119 a0001c0001t0002g0087 a0001c0001t0003g0159 a0001c0002t0001g0018 a0001c0002t0002g0074 a0001c0002t0002g0083 a0001c0002t0003g0130 a0001c0002t0003g0131	9	164	0.0549	46	c.580 others(65): Show c.580-15479_580-15478insATATATATATATATGTGTGTGTGTAT ATATATATATATATATGTGT	KCNB2	ENSG00000182674.6	transcript	ENST00000523207.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr8	TogoVar

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