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 per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
GARNL3_chr9_127259774_127398660	127391533	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG03239.hp1 HG03492.hp1 others(2): Show HG01099.hp1 HG03239.hp1 HG03492.hp1 HG03710.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0258 others(2): Show a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0258 a0001c0001t0001g0276 a0001c0001t0001g0290	5	300	0.0167	27	c.287 others(44): Show c.2870+767_2870+768insAAAAAAAAAAAAAAAAAAAAATATATA		GARNL3	ENSG00000136895.19	transcript	ENST00000373387.9	protein_coding	27/27					INFO_REALIGN_3_PRIME	chr9	TogoVar
GARNL3_chr9_127259774_127398660	127391533	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00673.hp1 HG01361.hp2 others(11): Show HG00558.hp1 HG00673.hp1 HG01361.hp2 HG02027.hp1 NA18939.hp1 NA18943.hp2 NA18945.hp1 NA18980.hp1 NA18984.hp1 NA19003.hp2 NA19007.hp1 NA19009.hp1 NA19057.hp2 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0024 a0001c0001t0001g0075 a0001c0001t0001g0159 others(11): Show a0001c0001t0001g0024 a0001c0001t0001g0075 a0001c0001t0001g0159 a0001c0001t0001g0164 a0001c0001t0001g0240 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0272 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0006t0001g0265	14	300	0.0467	27	c.287 others(44): Show c.2870+767_2870+768insAAAAAAAAAAAAAAAAAAATATATATA		GARNL3	ENSG00000136895.19	transcript	ENST00000373387.9	protein_coding	27/27					INFO_REALIGN_3_PRIME	chr9	TogoVar
GARNL3_chr9_127259774_127398660	127391533	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA18973.hp2 NA18988.hp2 HG02257.hp1 NA18973.hp2 NA18988.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0167 a0001c0001t0001g0168 a0003c0003t0001g0069 a0001c0001t0001g0167 a0001c0001t0001g0168 a0003c0003t0001g0069	3	300	0.0100	27	c.287 others(44): Show c.2870+767_2870+768insAAAAAAAAAAAAAAAAATATATATATA		GARNL3	ENSG00000136895.19	transcript	ENST00000373387.9	protein_coding	27/27					INFO_REALIGN_3_PRIME	chr9	TogoVar
GARNL3_chr9_127259774_127398660	127391533	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG03491.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0089 a0001c0001t0001g0090	2	300	0.0067	27	c.287 others(44): Show c.2870+767_2870+768insAAAAAAAAAAAAATATATATATATATA		GARNL3	ENSG00000136895.19	transcript	ENST00000373387.9	protein_coding	27/27					INFO_REALIGN_3_PRIME	chr9	TogoVar
GAS2_chr11_22661611_22818001	22789422	T T	TATATAAA others(20): Show TATATAAATATATATATATAAATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0256 a0001c0002t0008g0256	1	272	0.0037	27	c.724 others(46): Show c.724-22376_724-22375insATATAAATATATATATATAAATATAT A		GAS2	ENSG00000148935.12	transcript	ENST00000454584.7	protein_coding	7/7						chr11	TogoVar
GAS7_chr17_9905606_10203606	10159063	A A	ACATATAT others(20): Show ACATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02055.hp2 HG02165.hp1 others(2): Show HG01168.hp2 HG02055.hp2 HG02165.hp1 HG02896.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0010 a0001c0001t0050 others(1): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0050 a0001c0002t0001	a0001c0001t0001g0049 a0001c0001t0001g0103 a0001c0001t0010g0017 others(2): Show a0001c0001t0001g0049 a0001c0001t0001g0103 a0001c0001t0010g0017 a0001c0001t0050g0168 a0001c0002t0001g0144	5	218	0.0229	27	c.183 others(46): Show c.183+39144_183+39145insATATATATATATATATATATATATAT G		GAS7	ENSG00000007237.19	transcript	ENST00000432992.7	protein_coding	1/13						chr17	TogoVar
GATA3_chr10_8049688_8080198	8061089	C C	CTCTCTCT others(20): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0165 a0001c0001t0003g0165	1	370	0.0027	27	c.778 others(44): Show c.778+2249_778+2250insCTCTCTCTCTCTCTCTCTCTCTCTCTT		GATA3	ENSG00000107485.18	transcript	ENST00000379328.9	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr10	TogoVar
GATA5_chr20_62458497_62480995	62471432	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0264 a0001c0003t0001g0264	1	382	0.0026	27	c.699 others(44): Show c.699+1970_699+1971insAAAAAAAAAAAAAAAAAAAAAAAAAAA		GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding	3/6						chr20	TogoVar
GATA5_chr20_62458497_62480995	62476946	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 NA18980.hp2 NA19079.hp2 HG02698.hp2 NA18980.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0086 a0001c0001t0001g0159 a0001c0002t0001g0007 a0001c0001t0001g0086 a0001c0001t0001g0159 a0001c0002t0001g0007	3	382	0.0079	27	c.-10 others(38): Show c.-1039_-1038insGAAAGAAAGAAAGAAAGAAAGAAAGAA		GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding					952		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477098	C C	CTTCCTTC others(20): Show CTTCCTTCCTTCTTTCTTCTTTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0044 a0001c0002t0001g0044	1	382	0.0026	27	c.-11 others(38): Show c.-1191_-1190insAGAAAGAAAGAAGAAAGAAGGAAGGAA		GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding					1104		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477138	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02132.hp1 HG01109.hp1 HG02132.hp1	a0002 a0002	a0002c0005 a0002c0006 a0002c0005 a0002c0006	a0002c0005t0001 a0002c0006t0002 a0002c0005t0001 a0002c0006t0002	a0002c0005t0001g0252 a0002c0006t0002g0233 a0002c0005t0001g0252 a0002c0006t0002g0233	2	382	0.0052	27	c.-12 others(38): Show c.-1231_-1230insGAAAGAAAGAAAGAAAGAAAGAAAGAA		GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding					1144		chr20	TogoVar
GATAD2B_chr1_153799725_153927972	153839108	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0204 a0001c0001t0036g0204	1	349	0.0029	27	c.-1- others(44): Show c.-1-10761_-1-10760insTTTTTTTTTTTTTTTTTTTTTTTTTTT		GATAD2B	ENSG00000143614.11	transcript	ENST00000368655.5	protein_coding	1/10						chr1	TogoVar
GATAD2B_chr1_153799725_153927972	153876227	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0044 a0001c0001t0006g0044	1	349	0.0029	27	c.-2+ others(44): Show c.-2+46479_-2+46505dupTTTTTTTTTTTTTTTTTTTTTTTTTTT		GATAD2B	ENSG00000143614.11	transcript	ENST00000368655.5	protein_coding	1/10						chr1	TogoVar
GBF1_chr10_102240532_102387896	102242928	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0015 a0001c0004t0004g0015	1	330	0.0030	27	c.-28 others(38): Show c.-2864_-2863insAAAAAAAAAAAAAAAAAAAAAAAAAAA		GBF1	ENSG00000107862.7	transcript	ENST00000369983.5	protein_coding					2603		chr10	TogoVar
GCA_chr2_162339132_162368123	162345131	G G	GGTGGTGG others(20): Show GGTGGTGGTGGTGGTGGTGGTTGTGGTT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18974.hp1 NA18994.hp2 NA18941.hp2 NA18974.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0149 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0002g0149 a0001c0001t0003g0150 a0001c0001t0003g0151	3	366	0.0082	27	c.27+ others(40): Show c.27+861_27+862insGGTGGTGGTGGTGGTTGTGGTTGTGGT		GCA	ENSG00000115271.11	transcript	ENST00000437150.7	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr2	TogoVar
GCA_chr2_162339132_162368123	162345131	G G	GGTGGTGG others(20): Show GGTGGTGGTGGTGGTTGTGGTTGTGGTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0154 a0001c0001t0003g0154	1	366	0.0027	27	c.27+ others(40): Show c.27+861_27+862insGGTGGTGGTTGTGGTTGTGGTTGTGGT		GCA	ENSG00000115271.11	transcript	ENST00000437150.7	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr2	TogoVar
GCH1_chr14_54837017_54907826	54855505	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	346	0.0029	27	c.509 others(44): Show c.509+4175_509+4176insTTTTTTTTTTTTTTTTTTTTTTTTTTT		GCH1	ENSG00000131979.20	transcript	ENST00000491895.7	protein_coding	3/5						chr14	TogoVar
GCK_chr7_44139275_44194439	44174854	C C	CTCCTCTT others(20): Show CTCCTCTTCTTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA19009.hp1 NA18967.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0286 a0001c0001t0008g0347 a0001c0001t0001g0286 a0001c0001t0008g0347	2	392	0.0051	27	c.45+ others(44): Show c.45+14054_45+14055insAGAAGAAGAAGAAGAAGAAGAAGAGGA		GCK	ENSG00000106633.18	transcript	ENST00000403799.8	protein_coding	1/9						chr7	TogoVar
GCK_chr7_44139275_44194439	44174854	C C	CTCTTCCT others(20): Show CTCTTCCTCTTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0102 a0001c0001t0003g0102	1	392	0.0026	27	c.45+ others(44): Show c.45+14054_45+14055insAGAAGAAGAAGAAGAAGAAGAGGAAGA		GCK	ENSG00000106633.18	transcript	ENST00000403799.8	protein_coding	1/9						chr7	TogoVar
GCK_chr7_44139275_44194439	44174915	T T	TCTTCTTC others(20): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01934.hp2 HG02148.hp2 others(8): Show HG01433.hp2 HG01934.hp2 HG02148.hp2 HG02257.hp2 HG02258.hp1 HG02717.hp1 HG03098.hp1 NA18943.hp1 NA19062.hp2 NA19064.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0003t0002	a0001c0001t0001g0008 a0001c0001t0001g0038 a0001c0001t0001g0076 others(6): Show a0001c0001t0001g0008 a0001c0001t0001g0038 a0001c0001t0001g0076 a0001c0001t0002g0065 a0001c0001t0002g0107 a0001c0001t0002g0266 a0001c0001t0003g0218 a0001c0001t0004g0021 a0001c0003t0002g0288	11	392	0.0281	27	c.45+ others(44): Show c.45+13993_45+13994insGAGAAGAAGAAGAAGAAGAAGAAGAAG		GCK	ENSG00000106633.18	transcript	ENST00000403799.8	protein_coding	1/9						chr7	TogoVar
GCNT2_chr6_10516351_10634368	10534139	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	324	0.0031	27	c.925 others(44): Show c.925+4304_925+4305insTTTTTTTTTTTTTTTTTTTTTTTTTTT		GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10516351_10634368	10569274	C C	CACACACA others(20): Show CACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	324	0.0031	27	c.925 others(46): Show c.925+39438_925+39439insACACACACACACACACACACACACAC A		GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4						chr6	TogoVar
GCNT2_chr6_10550809_10634368	10569274	C C	CACACACA others(20): Show CACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	344	0.0029	27	c.919 others(46): Show c.919+11932_919+11933insACACACACACACACACACACACACAC A		GCNT2	ENSG00000111846.20	transcript	ENST00000316170.9	protein_coding	1/2						chr6	TogoVar
GCNT3_chr15_59606783_59627723	59610949	C C	CCCCCTCC others(20): Show CCCCCTCCCCCTCCCCTCCCCTCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp1 HG02615.hp2 HG02647.hp2 others(4): Show HG01517.hp1 HG02615.hp2 HG02647.hp2 HG03471.hp1 HG03654.hp1 HG06807.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0026 others(2): Show a0001c0001t0001 a0001c0001t0015 a0001c0001t0026 a0001c0001t0056 a0001c0001t0061	a0001c0001t0001g0005 a0001c0001t0001g0085 a0001c0001t0015g0003 others(4): Show a0001c0001t0001g0005 a0001c0001t0001g0085 a0001c0001t0015g0003 a0001c0001t0015g0070 a0001c0001t0026g0017 a0001c0001t0056g0003 a0001c0001t0061g0003	7	428	0.0164	27	c.-12 others(38): Show c.-1283_-1282insCCCCTCCCCCTCCCCTCCCCTCCCCCT		GCNT3	ENSG00000140297.13	transcript	ENST00000396065.3	protein_coding					833		chr15	TogoVar
GCSH_chr16_81076945_81101395	81080667	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 NA18968.hp2 NA19054.hp1 HG01993.hp1 NA18968.hp2 NA19054.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0013 a0002c0002t0002g0081 a0002c0002t0002g0002 a0002c0002t0002g0013 a0002c0002t0002g0081	3	354	0.0085	27	c.21 others(38): Show c.2198_*2199insAAAAAAAAAAAAAAAAAAAAAAAAAAA		GCSH	ENSG00000140905.11	transcript	ENST00000315467.9	protein_coding					1277		chr16	TogoVar
GCSH_chr16_81076945_81101395	81095629	T T	TCCTCGGC others(20): Show TCCTCGGCCTCCCAAAGTGCTGGGATTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(300): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0002c0002 a0002c0005 others(4): Show a0001c0001 a0002c0002 a0002c0005 a0003c0003 a0004c0008 a0005c0006 a0006c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0002c0002t0001 a0002c0002t0002 a0002c0002t0010 a0002c0002t0014 a0002c0005t0008 a0003c0003t0004 a0003c0003t0006 a0004c0008t0001 a0005c0006t0013 a0006c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(115): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0002g0094 a0001c0001t0002g0119 a0001c0001t0002g0135 a0001c0001t0002g0144 a0001c0001t0003g0004 a0001c0001t0003g0015 a0001c0001t0003g0118 a0001c0001t0003g0145 a0001c0001t0005g0023 a0001c0001t0005g0046 a0001c0001t0005g0047 a0001c0001t0011g0112 a0001c0001t0012g0090 a0001c0001t0015g0148 a0001c0001t0016g0155 a0002c0002t0001g0027 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0075 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0002g0002 a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0028 a0002c0002t0002g0074 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0010g0079 a0002c0002t0014g0073 a0002c0005t0008g0071 a0002c0005t0008g0072 a0003c0003t0004g0022 a0003c0003t0004g0040 a0003c0003t0004g0041 a0003c0003t0004g0042 a0003c0003t0004g0149 a0003c0003t0004g0150 a0003c0003t0004g0151 a0003c0003t0006g0021 a0003c0003t0006g0152 a0003c0003t0006g0153 a0003c0003t0006g0154 a0004c0008t0001g0147 a0005c0006t0013g0098 a0006c0007t0001g0146	303	354	0.8559	27	c.148 others(42): Show c.148+501_148+502insTAATCCCAGCACTTTGGGAGGCCGAGG		GCSH	ENSG00000140905.11	transcript	ENST00000315467.9	protein_coding	1/4						chr16	TogoVar
GDAP1_chr8_74345403_74371876	74356716	A A	ATATATAT others(20): Show ATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	430	0.0023	27	c.311 others(44): Show c.311-3420_311-3419insATATATATATTTTTTTTTTTTTTTTTT		GDAP1	ENSG00000104381.14	transcript	ENST00000220822.12	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr8	TogoVar
GDF7_chr2_20662144_20684243	20663249	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00733.hp2 HG00639.hp1 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0213 a0001c0001t0216 a0001c0001t0213 a0001c0001t0216	a0001c0001t0213g0001 a0001c0001t0216g0001 a0001c0001t0213g0001 a0001c0001t0216g0001	2	442	0.0045	27	c.-39 others(38): Show c.-3991_-3990insAAAAAAAAAAAAAAAAAAAAAAAAAAA		GDF7	ENSG00000143869.7	transcript	ENST00000272224.5	protein_coding					3894		chr2	TogoVar
GDF7_chr2_20662144_20684243	20667362	G G	GGGCGGCG others(20): Show GGGCGGCGGCGGCGGCGGCGGCGGCGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02559.hp1 HG03471.hp1 HG02559.hp1 HG03471.hp1	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0183 a0010c0013t0184 a0010c0013t0183 a0010c0013t0184	a0010c0013t0183g0001 a0010c0013t0184g0001 a0010c0013t0183g0001 a0010c0013t0184g0001	2	442	0.0045	27	c.149 others(34): Show c.149_150insCGGCGGCGGCGGCGGCGGCGGCGGCGG	p.Gly others(11): Show p.Gly42_Gly50dup	GDF7	ENSG00000143869.7	transcript	ENST00000272224.5	protein_coding	1/2	246/9267	150/1353	50/450		INFO_REALIGN_3_PRIME	chr2	TogoVar
GDPD2_chrX_70418314_70438381	70424300	T T	TTTAGAAG others(20): Show TTTAGAAGACTGGGAGTGACCCAGGCAA	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	318	0.0031	27	c.-9- others(40): Show c.-9-675_-9-649dupTTAGAAGACTGGGAGTGACCCAGGCAA		GDPD2	ENSG00000130055.14	transcript	ENST00000374382.4	protein_coding	1/15					INFO_REALIGN_3_PRIME	chrX	TogoVar
GEMIN2_chr14_39109323_39141973	39123708	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0310 a0001c0001t0001g0310	1	424	0.0024	27	c.486 others(44): Show c.486+1166_486+1167insATATATATATATATATATATATATATT		GEMIN2	ENSG00000092208.19	transcript	ENST00000308317.12	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr14	TogoVar
GEMIN6_chr2_38773210_38790002	38779664	A A	ATATATAT others(20): Show ATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0064 a0001c0001t0049g0064	1	412	0.0024	27	c.128 others(42): Show c.128+547_128+548insATATATATATATATATATTTTTTTTTT		GEMIN6	ENSG00000152147.11	transcript	ENST00000281950.8	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr2	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0196 a0001c0005t0004g0196	1	412	0.0024	27	c.41 others(38): Show c.4105_*4106insATATATATTTTTTTTTTTTTTTTTTTT		GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding					3239		chr5	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG03453.hp1 NA19240.hp1 HG02280.hp1 HG03453.hp1 NA19240.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0019 a0001c0005t0004 a0001c0005t0019	a0001c0005t0004g0192 a0001c0005t0004g0193 a0001c0005t0019g0383 a0001c0005t0004g0192 a0001c0005t0004g0193 a0001c0005t0019g0383	3	412	0.0073	27	c.41 others(38): Show c.4105_*4106insATATATATATATTTTTTTTTTTTTTTT		GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding					3239		chr5	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0358 a0001c0005t0002g0358	1	412	0.0024	27	c.41 others(38): Show c.4105_*4106insATATATATATATATATTTTTTTTTTTT		GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding					3239		chr5	TogoVar
GFRAL_chr6_55322469_55407493	55397524	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0249 a0002c0002t0003g0249	1	386	0.0026	27	c.953 others(44): Show c.953-1630_953-1629insAAAAAAAAAAAAAAAAAAAAAAAAAAA		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(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02559.hp1 HG02622.hp2 others(11): Show HG02280.hp2 HG02559.hp1 HG02622.hp2 HG02738.hp2 HG02818.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03225.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 NA19084.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0003 a0001c0001t0001g0023 a0001c0001t0003g0005 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0023 a0001c0001t0003g0005 a0001c0001t0003g0009	14	415	0.0337	27	c.-16 others(38): Show c.-1686_-1685insTTTTTTTTTTTTTTTTTTTTTTTTTTT		GFUS	ENSG00000104522.16	transcript	ENST00000425753.7	protein_coding					1599		chr8	TogoVar
GGNBP2_chr17_36539919_36594848	36575648	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0287 a0001c0001t0002g0287	1	357	0.0028	27	c.642 others(44): Show c.642-2334_642-2333insATATATATATATATATATATATATATT		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(20): Show ATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0231 a0001c0001t0002g0231	1	357	0.0028	27	c.642 others(44): Show c.642-2334_642-2333insATATATATATATATATTTTTTTTTTTT		GGNBP2	ENSG00000278311.5	transcript	ENST00000613102.5	protein_coding	6/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
GGT7_chr20_34839720_34877856	34845112	T T	TCACCACC others(20): Show TCACCACCACCACCACCACCACCACCAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00423.hp1 HG01099.hp1 HG02004.hp1 others(7): Show HG00423.hp1 HG01099.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02273.hp2 NA18939.hp1 NA18979.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0043 a0001c0001t0008g0044 a0001c0001t0008g0094 others(5): Show a0001c0001t0008g0043 a0001c0001t0008g0044 a0001c0001t0008g0094 a0001c0001t0008g0236 a0001c0001t0008g0237 a0001c0001t0008g0239 a0001c0001t0008g0243 a0001c0001t0008g0248	10	354	0.0283	27	c.18 others(36): Show c.189_*215dupGTGGTGGTGGTGGTGGTGGTGGTGGTG		GGT7	ENSG00000131067.17	transcript	ENST00000336431.10	protein_coding	15/15				215		chr20	TogoVar
GIMAP1_chr7_150711613_150729284	150727146	C C	CATATTAT others(20): Show CATATTATAAAAGAGTGAAAATTGGACT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	434	0.0023	27	c.62 others(38): Show c.6221_*6222insATATTATAAAAGAGTGAAAATTGGACT		GIMAP1	ENSG00000213203.3	transcript	ENST00000307194.6	protein_coding					2863		chr7	TogoVar
GINS2_chr16_85671198_85693954	85685670	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02071.hp1 NA18948.hp2 others(6): Show HG00621.hp2 HG02071.hp1 NA18948.hp2 NA18954.hp2 NA18983.hp1 NA18988.hp1 NA18994.hp2 NA19004.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0016	a0001c0001t0003g0130 a0001c0001t0004g0053 a0001c0001t0004g0281 others(4): Show a0001c0001t0003g0130 a0001c0001t0004g0053 a0001c0001t0004g0281 a0001c0001t0004g0282 a0001c0001t0010g0254 a0001c0001t0016g0056 a0001c0001t0016g0292	9	470	0.0192	27	c.205 others(44): Show c.205+1789_205+1790insTTTTTTTTTTTTTTTTTTTTTTTTTTT		GINS2	ENSG00000131153.9	transcript	ENST00000253462.8	protein_coding	2/4						chr16	TogoVar
GINS2_chr16_85671198_85693954	85685685	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01071.hp2 NA19062.hp2 HG01071.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0014 a0001c0001t0003 a0001c0001t0014	a0001c0001t0003g0122 a0001c0001t0014g0143 a0001c0001t0003g0122 a0001c0001t0014g0143	2	470	0.0043	27	c.205 others(44): Show c.205+1774_205+1775insGTTTTTTTTTTTTTTTTTTTTTTTTTT		GINS2	ENSG00000131153.9	transcript	ENST00000253462.8	protein_coding	2/4						chr16	TogoVar
GIPC1_chr19_14472762_14501127	14496041	T T	TCCGCCGC others(20): Show TCCGCCGCCGCCGCCGCCGCCGCCGCCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18975.hp1 NA18980.hp2 NA19004.hp1 NA18975.hp1 NA18980.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0056 a0001c0001t0027 a0001c0001t0056	a0001c0001t0027g0374 a0001c0001t0027g0375 a0001c0001t0056g0376 a0001c0001t0027g0374 a0001c0001t0027g0375 a0001c0001t0056g0376	3	444	0.0068	27	c.-20 others(36): Show c.-206_-180dupCGGCGGCGGCGGCGGCGGCGGCGGCGG		GIPC1	ENSG00000123159.16	transcript	ENST00000393033.9	protein_coding	1/9				13066		chr19	TogoVar
GIPC1_chr19_14472762_14501127	14496074	G G	GCCTCCGC others(20): Show GCCTCCGCCTCCGCCTCCGCCTCCGCCT	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0047 a0001c0002t0047	a0001c0002t0047g0342 a0001c0002t0047g0342	1	444	0.0023	27	c.-21 others(36): Show c.-213_-212insAGGCGGAGGCGGAGGCGGAGGCGGAGG		GIPC1	ENSG00000123159.16	transcript	ENST00000393033.9	protein_coding	1/9				13099		chr19	TogoVar
GIP_chr17_48953554_48973596	48965138	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp1 NA21309.hp1 HG01981.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0075 a0001c0001t0004g0046 a0001c0001t0001g0075 a0001c0001t0004g0046	2	406	0.0049	27	c.87- others(40): Show c.87-659_87-658insTTTTTTTTTTTTTTTTTTTTTTTTTTT		GIP	ENSG00000159224.4	transcript	ENST00000357424.2	protein_coding	2/5						chr17	TogoVar
GJC3_chr7_99918266_99934620	99923021	C C	CAGAAAAC others(20): Show CAGAAAACCTACCATACCACCAAGTACT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	392	0.0026	27	c.52 others(36): Show c.523_*524insAGTACTTGGTGGTATGGTAGGTTTTCT		GJC3	ENSG00000176402.6	transcript	ENST00000312891.3	protein_coding					244		chr7	TogoVar
GK_chrX_30648423_30736462	30699214	T T	TACATGTT others(20): Show TACATGTTATATATACATGTTATGTATA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01891.hp1 HG01993.hp2 others(12): Show HG01361.hp1 HG01891.hp1 HG01993.hp2 HG02015.hp1 HG02630.hp1 HG02895.hp1 HG02897.hp2 HG03688.hp1 NA18747.hp1 NA18979.hp2 NA18983.hp2 NA18985.hp1 NA19006.hp1 NA19077.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0265 a0001c0001t0002g0207 a0001c0001t0002g0208 others(12): Show a0001c0001t0001g0265 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0210 a0001c0001t0002g0229 a0001c0001t0002g0235 a0001c0001t0002g0259 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0003g0116 a0001c0001t0003g0126 a0001c0001t0003g0137 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0005g0104	15	286	0.0525	27	c.748 others(44): Show c.748-1166_748-1140dupTATATATACATGTTATGTATAACATGT		GK	ENSG00000198814.14	transcript	ENST00000427190.6	protein_coding	9/20					INFO_REALIGN_3_PRIME	chrX	TogoVar
GK_chrX_30648423_30736462	30736309	T T	TATTTTTA others(20): Show TATTTTTATGTTATGTTATCTTATTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0168 a0001c0001t0002g0168	1	286	0.0035	27	c.75 others(38): Show c.7567_*7568insATTTTTATGTTATGTTATCTTATTTTA		GK	ENSG00000198814.14	transcript	ENST00000427190.6	protein_coding					4848		chrX	TogoVar
GLB1L3_chr11_134271379_134324564	134308323	T T	TCACCATC others(20): Show TCACCATCACCATCACCACCACCACCAC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03471.hp2 HG03139.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0196 a0001c0001t0001g0145 a0001c0001t0001g0196	2	422	0.0047	27	c.961 others(44): Show c.961+1132_961+1133insCCACCACCACCACCATCACCATCACCA		GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19					INFO_REALIGN_3_PRIME	chr11	TogoVar

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