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	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
GARRE1_chr19_34249554_34360566	34293746	A A	ACACACAC others(10): Show ACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp2 HG02257.hp2 others(4): Show HG01884.hp2 HG02109.hp2 HG02257.hp2 HG03130.hp1 HG03516.hp1 HG03579.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0186 others(4): Show a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0186 a0001c0001t0001g0195 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205	7	326	0.0215	17	c.-79 others(36): Show c.-795-5933_-795-5932insCACACACACACACACAC		GARRE1	ENSG00000166398.14	transcript	ENST00000299505.8	protein_coding	1/13						chr19	TogoVar
GAS2_chr11_22661611_22818001	22704624	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp2 NA18944.hp1 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0208 a0001c0001t0002g0076 a0001c0001t0001g0208 a0001c0001t0002g0076	2	272	0.0074	17	c.267 others(36): Show c.267+18835_267+18836insATATATATATATATATA		GAS2	ENSG00000148935.12	transcript	ENST00000454584.7	protein_coding	3/7						chr11	TogoVar
GAS6_chr13_113815549_113869076	113867701	T T	TAAAAAAA others(10): Show TAAAAAAATAAAAATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0015 a0002c0005t0001g0015	1	143	0.0070	17	c.-37 others(28): Show c.-3782_-3781insTTTATTTTTATTTTTTT		GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding					3626		chr13	TogoVar
GAS7_chr17_9905606_10203606	9982824	G G	GGAAAGAA others(10): Show GGAAAGAAAGGAAAGAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0217 a0001c0001t0015g0217	1	218	0.0046	17	c.305 others(32): Show c.305-941_305-940insTTTCTTTCCTTTCTTTC		GAS7	ENSG00000007237.19	transcript	ENST00000432992.7	protein_coding	2/13						chr17	TogoVar
GAS7_chr17_9905606_10203606	10146960	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG02027.hp2 others(10): Show HG00558.hp1 HG00558.hp2 HG02027.hp2 HG02055.hp2 HG02056.hp2 HG02602.hp2 HG03239.hp2 NA18747.hp1 NA18747.hp2 NA18962.hp2 NA18983.hp2 NA18998.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 a0001c0003t0014	a0001c0001t0001g0078 a0001c0001t0001g0171 a0001c0001t0001g0209 others(10): Show a0001c0001t0001g0078 a0001c0001t0001g0171 a0001c0001t0001g0209 a0001c0001t0002g0098 a0001c0001t0002g0111 a0001c0001t0002g0170 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0211 a0001c0001t0002g0216 a0001c0001t0008g0102 a0001c0001t0010g0017 a0001c0003t0014g0153	13	218	0.0596	17	c.183 others(36): Show c.183+51247_183+51248insTTTTTTTTTTTTTTTTT		GAS7	ENSG00000007237.19	transcript	ENST00000432992.7	protein_coding	1/13						chr17	TogoVar
GAS7_chr17_9905606_10203606	10159063	A A	ACATATAT others(10): Show ACATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00558.hp2 others(18): Show HG00099.hp2 HG00323.hp2 HG00558.hp2 HG00733.hp2 HG01256.hp2 HG01258.hp2 HG01952.hp2 HG01975.hp2 HG02027.hp2 HG02165.hp2 HG02280.hp2 HG02451.hp1 HG02559.hp1 HG02602.hp2 HG02886.hp1 HG03017.hp1 HG03041.hp1 HG03453.hp2 HG03942.hp2 NA18993.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0055 a0001c0001t0069 a0001c0001t0072 a0001c0002t0002 a0001c0003t0004 a0001c0005t0003 a0001c0010t0028	a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0130 others(18): Show a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0130 a0001c0001t0001g0209 a0001c0001t0002g0081 a0001c0001t0002g0111 a0001c0001t0002g0195 a0001c0001t0003g0164 a0001c0001t0003g0180 a0001c0001t0005g0127 a0001c0001t0008g0064 a0001c0001t0010g0020 a0001c0001t0011g0013 a0001c0001t0015g0217 a0001c0001t0055g0063 a0001c0001t0069g0163 a0001c0001t0072g0178 a0001c0002t0002g0191 a0001c0003t0004g0045 a0001c0005t0003g0150 a0001c0010t0028g0169	21	218	0.0963	17	c.183 others(36): Show c.183+39144_183+39145insATATATATATATATATG		GAS7	ENSG00000007237.19	transcript	ENST00000432992.7	protein_coding	1/13						chr17	TogoVar
GAS7_chr17_9905606_10203606	10159097	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	218	0.0046	17	c.183 others(36): Show c.183+39110_183+39111insTATATATATATATATAT		GAS7	ENSG00000007237.19	transcript	ENST00000432992.7	protein_coding	1/13						chr17	TogoVar
GASK1A_chr3_42974311_43062715	42987998	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0005 a0002c0006t0005	a0002c0006t0005g0199 a0002c0006t0005g0199	1	342	0.0029	17	c.3+8 others(30): Show c.3+8364_3+8365insAAAAAAAAAAAAAAAAA		GASK1A	ENSG00000144649.10	transcript	ENST00000430121.3	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr3	TogoVar
GATA5_chr20_62458497_62480995	62471432	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02486.hp2 HG03130.hp1 others(9): Show HG01884.hp2 HG02486.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03704.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp2 NA18955.hp2 NA18966.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0018 others(2): Show a0001c0002 a0001c0003 a0001c0018 a0002c0005 a0002c0020	a0001c0002t0002 a0001c0002t0012 a0001c0003t0001 others(6): Show a0001c0002t0002 a0001c0002t0012 a0001c0003t0001 a0001c0003t0004 a0001c0018t0003 a0002c0005t0002 a0002c0005t0003 a0002c0005t0004 a0002c0020t0001	a0001c0002t0002g0211 a0001c0002t0012g0041 a0001c0002t0012g0045 others(8): Show a0001c0002t0002g0211 a0001c0002t0012g0041 a0001c0002t0012g0045 a0001c0003t0001g0082 a0001c0003t0001g0157 a0001c0003t0004g0027 a0001c0018t0003g0192 a0002c0005t0002g0239 a0002c0005t0003g0245 a0002c0005t0004g0244 a0002c0020t0001g0243	12	382	0.0314	17	c.699 others(34): Show c.699+1954_699+1970dupAAAAAAAAAAAAAAAAA		GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding	3/6						chr20	TogoVar
GATA5_chr20_62458497_62480995	62476877	T T	TTTTCTTT others(10): Show TTTTCTTTCTTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0128 a0001c0002t0009g0128	1	382	0.0026	17	c.-97 others(26): Show c.-970_-969insGAAAGAAAAGAAAGAAA		GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding					883		chr20	TogoVar
GATA5_chr20_62458497_62480995	62476885	T T	TCTTTCTT others(10): Show TCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0194 a0001c0002t0002g0194	1	382	0.0026	17	c.-97 others(26): Show c.-978_-977insGAAAGAAAGAAAGAAAG		GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding					891		chr20	TogoVar
GATA5_chr20_62458497_62480995	62476885	T T	TTTTTCTT others(10): Show TTTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0013 a0001c0002t0009g0013	1	382	0.0026	17	c.-97 others(26): Show c.-978_-977insGAAAGAAAGAAAGAAAA		GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding					891		chr20	TogoVar
GATA5_chr20_62458497_62480995	62476945	C C	CTTTCTTT others(10): Show CTTTCTTTCTTTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0036 a0001c0002t0036	a0001c0002t0036g0104 a0001c0002t0036g0104	1	382	0.0026	17	c.-10 others(28): Show c.-1038_-1037insAGAAAGAAAGAAAGAAA		GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding					951		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477117	C C	CTTTCTTT others(10): Show CTTTCTTTCTTTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0201 a0001c0003t0003g0201	1	382	0.0026	17	c.-12 others(28): Show c.-1210_-1209insAGAAAGAAAGAAAGAAA		GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding					1123		chr20	TogoVar
GATAD2A_chr19_19400675_19513932	19461921	A A	AGGATCTC others(10): Show AGGATCTCAGCCCCCAGG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0234 a0001c0002t0001g0234	1	298	0.0034	17	c.-6- others(32): Show c.-6-3418_-6-3402dupGGATCTCAGCCCCCAGG		GATAD2A	ENSG00000167491.18	transcript	ENST00000683918.1	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr19	TogoVar
GATAD2A_chr19_19400675_19513932	19475143	C C	CCCCGCAG others(10): Show CCCCGCAGCTGCTCCCGG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0191 a0001c0001t0002g0191	1	298	0.0034	17	c.269 others(34): Show c.269+9535_269+9551dupAGCTGCTCCCGGCCCGC		GATAD2A	ENSG00000167491.18	transcript	ENST00000683918.1	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr19	TogoVar
GATAD2A_chr19_19400675_19513932	19495865	C C	CCACTCGT others(10): Show CCACTCGTCAGGGGGGCT	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	NA18994.hp2 NA18994.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0225 a0003c0007t0001g0225	1	298	0.0034	17	c.739 others(24): Show c.739_755dupCTCGTCAGGGGGGCTCA	p.Gln others(5): Show p.Gln252fs	GATAD2A	ENSG00000167491.18	transcript	ENST00000683918.1	protein_coding	6/12	1107/5714	756/1905	252/634		INFO_REALIGN_3_PRIME	chr19	TogoVar
GATAD2B_chr1_153799725_153927972	153861795	A A	AAAAAAAA others(10): Show AAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0256 a0001c0001t0042g0256	1	349	0.0029	17	c.-1- others(34): Show c.-1-33448_-1-33447insATATATATTTTTTTTTT		GATAD2B	ENSG00000143614.11	transcript	ENST00000368655.5	protein_coding	1/10						chr1	TogoVar
GATAD2B_chr1_153799725_153927972	153861795	A A	AAAAAAAA others(10): Show AAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18966.hp2 NA19054.hp1 others(4): Show NA18963.hp2 NA18966.hp2 NA19054.hp1 NA19066.hp2 NA19072.hp2 NA19079.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0001t0001g0271 others(4): Show a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0001t0001g0271 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0318 a0001c0001t0001g0322	7	349	0.0201	17	c.-1- others(34): Show c.-1-33448_-1-33447insATATATATATTTTTTTT		GATAD2B	ENSG00000143614.11	transcript	ENST00000368655.5	protein_coding	1/10						chr1	TogoVar
GATAD2B_chr1_153799725_153927972	153861795	A A	AAATATAT others(10): Show AAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0316 a0001c0001t0046g0316	1	349	0.0029	17	c.-1- others(34): Show c.-1-33448_-1-33447insATATATATATATATATT		GATAD2B	ENSG00000143614.11	transcript	ENST00000368655.5	protein_coding	1/10						chr1	TogoVar
GATAD2B_chr1_153799725_153927972	153876227	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0109 a0001c0001t0005g0109	1	349	0.0029	17	c.-2+ others(34): Show c.-2+46489_-2+46505dupTTTTTTTTTTTTTTTTT		GATAD2B	ENSG00000143614.11	transcript	ENST00000368655.5	protein_coding	1/10						chr1	TogoVar
GATC_chr12_120441444_120468749	120451875	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0151 a0001c0001t0003g0151	1	408	0.0025	17	c.254 others(34): Show c.254+5050_254+5066dupTTTTTTTTTTTTTTTTT		GATC	ENSG00000257218.6	transcript	ENST00000551765.6	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr12	TogoVar
GATD1_chr11_762222_782487	763204	G G	GCCCCCGC others(10): Show GCCCCCGCCCTCACCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG02109.hp1 HG02257.hp2 others(4): Show HG01433.hp1 HG02109.hp1 HG02257.hp2 HG02630.hp1 HG02809.hp2 HG03017.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0019 a0001c0003t0004 a0001c0001t0019 a0001c0003t0004	a0001c0001t0019g0034 a0001c0003t0004g0003 a0001c0001t0019g0034 a0001c0003t0004g0003	7	430	0.0163	17	c.76 others(28): Show c.7692_*7693insGCGGGTGAGGGCGGGGG		GATD1	ENSG00000177225.17	transcript	ENST00000319863.13	protein_coding					4017		chr11	TogoVar
GBF1_chr10_102240532_102387896	102293764	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 NA18945.hp2 NA19009.hp1 HG00280.hp1 NA18945.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0106 a0001c0001t0001g0174 a0001c0001t0005g0156 a0001c0001t0001g0106 a0001c0001t0001g0174 a0001c0001t0005g0156	3	330	0.0091	17	c.163 others(36): Show c.163+33652_163+33653insTTTTTTTTTTTTTTTTT		GBF1	ENSG00000107862.7	transcript	ENST00000369983.5	protein_coding	3/39					INFO_REALIGN_3_PRIME	chr10	TogoVar
GCC2_chr2_108444206_108514415	108459745	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19074.hp1 NA19067.hp1 NA19074.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0106 a0002c0003t0003g0108 a0002c0003t0003g0106 a0002c0003t0003g0108	2	276	0.0073	17	c.216 others(34): Show c.216+7296_216+7312dupTTTTTTTTTTTTTTTTT		GCC2	ENSG00000135968.22	transcript	ENST00000309863.11	protein_coding	4/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
GCC2_chr2_108444206_108514415	108509733	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG02622.hp1 HG02976.hp2 others(11): Show HG00639.hp1 HG02622.hp1 HG02976.hp2 HG03017.hp2 HG03669.hp2 HG03834.hp1 HG04184.hp1 NA18522.hp2 NA18940.hp2 NA18947.hp1 NA18960.hp1 NA18962.hp2 NA19080.hp2 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0001c0001t0005 a0001c0001t0016 others(4): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0016 a0001c0001t0017 a0001c0001t0048 a0001c0001t0049 a0002c0003t0003	a0001c0001t0003g0117 a0001c0001t0003g0120 a0001c0001t0003g0123 others(11): Show a0001c0001t0003g0117 a0001c0001t0003g0120 a0001c0001t0003g0123 a0001c0001t0003g0127 a0001c0001t0003g0141 a0001c0001t0005g0006 a0001c0001t0005g0094 a0001c0001t0016g0124 a0001c0001t0017g0126 a0001c0001t0048g0144 a0001c0001t0049g0122 a0002c0003t0003g0107 a0002c0003t0003g0109 a0002c0003t0003g0110	14	276	0.0507	17	c.21 others(28): Show c.2103_*2104insTTTTTTTTTTTTTTTTT		GCC2	ENSG00000135968.22	transcript	ENST00000309863.11	protein_coding					319		chr2	TogoVar
GCH1_chr14_54837017_54907826	54855505	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02135.hp2 HG02258.hp1 others(4): Show HG00558.hp1 HG02135.hp2 HG02258.hp1 HG03195.hp1 HG03579.hp1 HG03942.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0012 a0001c0001t0004 a0001c0001t0012	a0001c0001t0004g0014 a0001c0001t0004g0028 a0001c0001t0004g0046 others(4): Show a0001c0001t0004g0014 a0001c0001t0004g0028 a0001c0001t0004g0046 a0001c0001t0004g0128 a0001c0001t0004g0204 a0001c0001t0012g0325 a0001c0001t0012g0326	7	346	0.0202	17	c.509 others(34): Show c.509+4159_509+4175dupTTTTTTTTTTTTTTTTT		GCH1	ENSG00000131979.20	transcript	ENST00000491895.7	protein_coding	3/5						chr14	TogoVar
GCM1_chr6_53121961_53153841	53128028	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0033 a0001c0001t0032g0033	1	412	0.0024	17	c.16 others(26): Show c.161_*177dupTTTTTTTTTTTTTTTTT		GCM1	ENSG00000137270.11	transcript	ENST00000259803.8	protein_coding	6/6				177		chr6	TogoVar
GCM2_chr6_10868223_10887041	10883180	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00673.hp1 others(33): Show HG00140.hp2 HG00423.hp1 HG00673.hp1 HG01109.hp1 HG01255.hp2 HG01261.hp2 HG01346.hp1 HG01496.hp2 HG01516.hp2 HG01978.hp1 HG01981.hp2 HG02071.hp1 HG02074.hp1 HG02135.hp2 HG02148.hp1 HG02257.hp2 HG02273.hp2 HG02602.hp2 HG03491.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 NA18940.hp1 NA18960.hp1 NA18968.hp2 NA19002.hp2 NA19007.hp1 NA19010.hp1 NA19079.hp2 NA19080.hp1 NA19082.hp2 NA19084.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0001 a0004c0007t0001 a0001c0001t0001 a0004c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(15): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0043 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0108 a0001c0001t0001g0114 a0004c0007t0001g0042	36	426	0.0845	17	c.-13 others(28): Show c.-1388_-1387insAAAAAAAAAAAAAAAAA		GCM2	ENSG00000124827.7	transcript	ENST00000379491.5	protein_coding					1140		chr6	TogoVar
GCNT2_chr6_10516351_10634368	10538437	A A	AAAAATAT others(10): Show AAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0026 a0001c0001t0005g0026	1	324	0.0031	17	c.925 others(34): Show c.925+8602_925+8603insAAATATATATATATATA		GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT3_chr15_59606783_59627723	59610842	C C	CCCCCTCC others(10): Show CCCCCTCCCTCCTTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0001 a0001c0001t0016g0001	1	428	0.0023	17	c.-13 others(28): Show c.-1390_-1389insCCCCTCCCTCCTTCCCT		GCNT3	ENSG00000140297.13	transcript	ENST00000396065.3	protein_coding					940		chr15	TogoVar
GCNT3_chr15_59606783_59627723	59610888	C C	CCCTCCCC others(10): Show CCCTCCCCCTCCCCTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0015 a0001c0001t0075g0015	1	428	0.0023	17	c.-13 others(28): Show c.-1344_-1343insCCTCCCCCTCCCCTCTG		GCNT3	ENSG00000140297.13	transcript	ENST00000396065.3	protein_coding					894		chr15	TogoVar
GCNT3_chr15_59606783_59627723	59611031	C C	TCCCCTCC others(10): Show TCCCCTCCCCCTCCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	428	0.0023	17	c.-12 others(28): Show c.-1218_-1202dupTCCCCTCCCCCTCCCCT		GCNT3	ENSG00000140297.13	transcript	ENST00000396065.3	protein_coding					752		chr15	TogoVar
GCNT3_chr15_59606783_59627723	59611066	G G	GCCCTCCC others(10): Show GCCCTCCCCCTCCCCTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0017	1	428	0.0023	17	c.-11 others(28): Show c.-1166_-1165insCCCTCCCCCTCCCCTCA		GCNT3	ENSG00000140297.13	transcript	ENST00000396065.3	protein_coding					716		chr15	TogoVar
GCNT3_chr15_59606783_59627723	59611084	C C	CCCTCCCC others(10): Show CCCTCCCCCTCCCCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01106.hp1 HG02145.hp2 others(15): Show HG01099.hp2 HG01106.hp1 HG02145.hp2 HG02602.hp1 HG02735.hp2 HG03017.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG04228.hp1 NA18949.hp2 NA18954.hp1 NA19004.hp1 NA19088.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0026 a0001c0001t0051	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0105 others(10): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0105 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0013 a0001c0001t0002g0026 a0001c0001t0004g0006 a0001c0001t0006g0005 a0001c0001t0006g0006 a0001c0001t0006g0017 a0001c0001t0026g0013 a0001c0001t0051g0052	18	428	0.0421	17	c.-11 others(28): Show c.-1148_-1147insCCTCCCCCTCCCCTTCT		GCNT3	ENSG00000140297.13	transcript	ENST00000396065.3	protein_coding					698		chr15	TogoVar
GCSH_chr16_81076945_81101395	81080667	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19064.hp2 NA19091.hp1 NA19064.hp2 NA19091.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0003c0003t0004 a0002c0002t0002 a0003c0003t0004	a0002c0002t0002g0012 a0003c0003t0004g0041 a0002c0002t0002g0012 a0003c0003t0004g0041	2	354	0.0057	17	c.21 others(28): Show c.2198_*2199insAAAAAAAAAAAAAAAAA		GCSH	ENSG00000140905.11	transcript	ENST00000315467.9	protein_coding					1277		chr16	TogoVar
GC_chr4_71736697_71789079	71746772	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02922.hp1 HG02280.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0194 a0001c0009t0001g0193 a0001c0001t0001g0194 a0001c0009t0001g0193	2	388	0.0052	17	c.139 others(34): Show c.1396-584_1396-568dupTTTTTTTTTTTTTTTTT		GC	ENSG00000145321.13	transcript	ENST00000273951.13	protein_coding	11/12						chr4	TogoVar
GDAP1L1_chr20_44242308_44285947	44276416	G G	GAAAGAAA others(10): Show GAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0035 a0001c0001t0016g0035	1	392	0.0026	17	c.761 others(34): Show c.761-2538_761-2522dupAGAAAGAAAGAAAGAAA		GDAP1L1	ENSG00000124194.17	transcript	ENST00000342560.10	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr20	TogoVar
GDAP1L1_chr20_44242308_44285947	44281703	C C	CACACACA others(10): Show CACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0107 a0001c0001t0019g0107	1	392	0.0026	17	c.24 others(28): Show c.2403_*2404insACACACACACACACACA		GDAP1L1	ENSG00000124194.17	transcript	ENST00000342560.10	protein_coding					757		chr20	TogoVar
GDA_chr9_72144440_72257224	72214345	C C	CTCAGCTC others(10): Show CTCAGCTCACTGCAACCT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0195 a0001c0001t0002g0195	1	312	0.0032	17	c.578 others(32): Show c.578+372_578+388dupTCAGCTCACTGCAACCT		GDA	ENSG00000119125.17	transcript	ENST00000358399.8	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr9	TogoVar
GDF15_chr19_18381158_18394176	18387813	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00639.hp1 HG00639.hp2 others(48): Show HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00735.hp1 HG01099.hp2 HG01109.hp2 HG01175.hp2 HG01361.hp1 HG01952.hp1 HG01981.hp1 HG02056.hp1 HG02056.hp2 HG02080.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03579.hp2 HG03831.hp2 HG04204.hp2 HG06807.hp1 NA18942.hp2 NA18943.hp2 NA18950.hp1 NA18950.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp2 NA18974.hp1 NA18981.hp1 NA18982.hp1 NA18984.hp1 NA18985.hp2 NA18990.hp2 NA18998.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19011.hp1 NA19060.hp2 NA19064.hp1 NA19068.hp1 NA19081.hp2 NA19087.hp2 NA20752.hp1 NA21309.hp1	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0003c0011 a0004c0004 a0002c0002 a0003c0011 a0004c0004	a0002c0002t0001 a0003c0011t0001 a0004c0004t0001 a0002c0002t0001 a0003c0011t0001 a0004c0004t0001	a0002c0002t0001g0002 a0002c0002t0001g0032 a0003c0011t0001g0002 others(1): Show a0002c0002t0001g0002 a0002c0002t0001g0032 a0003c0011t0001g0002 a0004c0004t0001g0002	51	424	0.1203	17	c.278 others(32): Show c.278-463_278-447dupTTTTTTTTTTTTTTTTT		GDF15	ENSG00000130513.7	transcript	ENST00000252809.3	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr19	TogoVar
GDF6_chr8_96137333_96165806	96144291	A A	AGAGAGAG others(10): Show AGAGAGAGAGAGAGAGAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0253 a0001c0001t0077g0253	1	368	0.0027	17	c.27 others(26): Show c.271_*272insCTCTCTCTCTCTCTCTC		GDF6	ENSG00000156466.11	transcript	ENST00000287020.7	protein_coding	2/2				271		chr8	TogoVar
GDF9_chr5_132856185_132871469	132863268	C C	CCCTAGTG others(10): Show CCCTAGTGAAGAAAGTCA	intron_variant intron_variant	MODIFIER	NA18976.hp2 NA18976.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0020 a0005c0007t0020	a0005c0007t0020g0039 a0005c0007t0020g0039	1	464	0.0022	17	c.398 others(32): Show c.398-729_398-713dupTGACTTTCTTCACTAGG		GDF9	ENSG00000164404.9	transcript	ENST00000687138.1	protein_coding	1/1						chr5	TogoVar
GDI1_chrX_154432154_154448467	154448072	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG01891.hp2 HG02976.hp1 others(2): Show HG01168.hp2 HG01891.hp2 HG02976.hp1 HG03041.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0014 a0001c0001t0001 a0001c0002t0001 a0001c0002t0014	a0001c0001t0001g0001 a0001c0002t0001g0001 a0001c0002t0001g0002 others(1): Show a0001c0001t0001g0001 a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0014g0001	5	283	0.0177	17	c.54 others(28): Show c.5400_*5401insTTTTTTTTTTTTTTTTT		GDI1	ENSG00000203879.12	transcript	ENST00000447750.7	protein_coding					4606		chrX	TogoVar
GDPD1_chr17_59215511_59280970	59222505	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01346.hp1 NA18998.hp2 HG00558.hp1 HG01346.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0161 a0001c0001t0001g0252 a0001c0001t0001g0137 a0001c0001t0001g0161 a0001c0001t0001g0252	3	312	0.0096	17	c.142 others(34): Show c.142+1764_142+1780dupTTTTTTTTTTTTTTTTT		GDPD1	ENSG00000153982.11	transcript	ENST00000284116.9	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr17	TogoVar
GDPD3_chr16_30099810_30118537	30110860	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02280.hp2 HG02965.hp1 others(3): Show HG01256.hp2 HG02280.hp2 HG02965.hp1 HG06807.hp2 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0059 a0001c0001t0001g0170 others(1): Show a0001c0001t0001g0030 a0001c0001t0001g0059 a0001c0001t0001g0170 a0001c0001t0001g0171	6	390	0.0154	17	c.707 others(32): Show c.707+527_707+528insTTTTTTTTTTTTTTTTT		GDPD3	ENSG00000102886.15	transcript	ENST00000406256.8	protein_coding	7/9						chr16	TogoVar
GDPD4_chr11_77211558_77306686	77235009	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0066 a0003c0003t0002g0066	1	350	0.0029	17	c.124 others(36): Show c.1242-1854_1242-1838dupAAAAAAAAAAAAAAAAA		GDPD4	ENSG00000178795.10	transcript	ENST00000315938.5	protein_coding	13/16						chr11	TogoVar
GDPD5_chr11_75429640_75530941	75435359	G G	GAGAGGCT others(10): Show GAGAGGCTGCGGCTGACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0160 a0001c0001t0014g0160	1	322	0.0031	17	c.13 others(26): Show c.131_*147dupTGTCAGCCGCAGCCTCT		GDPD5	ENSG00000158555.15	transcript	ENST00000336898.8	protein_coding	17/17				147		chr11	TogoVar
GEMIN2_chr14_39109323_39141973	39123708	A A	ATATATAT others(10): Show ATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA19240.hp1 HG02572.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0266 a0001c0001t0001g0146 a0001c0001t0001g0266	2	424	0.0047	17	c.486 others(34): Show c.486+1166_486+1167insATATATATATATTTTTT		GEMIN2	ENSG00000092208.19	transcript	ENST00000308317.12	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr14	TogoVar
GEMIN2_chr14_39109323_39141973	39123708	A A	ATATATAT others(10): Show ATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	424	0.0024	17	c.486 others(34): Show c.486+1166_486+1167insATATATATTTTTTTTTT		GEMIN2	ENSG00000092208.19	transcript	ENST00000308317.12	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr14	TogoVar

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