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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
GDPD4_chr11_77211558_77306686	77277391	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01071.hp1 HG01109.hp1 others(6): Show HG00642.hp1 HG01071.hp1 HG01109.hp1 HG01255.hp1 HG01258.hp2 HG02148.hp2 HG02257.hp1 HG03704.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0015 a0001c0001t0004 a0001c0001t0015	a0001c0001t0004g0152 a0001c0001t0004g0153 a0001c0001t0004g0156 others(6): Show a0001c0001t0004g0152 a0001c0001t0004g0153 a0001c0001t0004g0156 a0001c0001t0004g0161 a0001c0001t0004g0164 a0001c0001t0004g0166 a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0015g0151	9	350	0.0257	11	c.148 others(28): Show c.148-1182_148-1172dupAAAAAAAAAAA	GDPD4	ENSG00000178795.10	transcript	ENST00000315938.5	protein_coding	4/16			chr11	TogoVar
GDPGP1_chr15_90229209_90250811	90240106	C C	CTATAATC others(4): Show CTATAATCCCTA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02559.hp2 HG02717.hp1 others(8): Show HG02451.hp2 HG02559.hp2 HG02717.hp1 HG02717.hp2 HG02818.hp1 HG02970.hp1 HG02976.hp1 HG03453.hp1 HG03579.hp1 NA18522.hp2 NA19030.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0016 a0005c0005t0043 a0005c0005t0053 others(2): Show a0005c0005t0016 a0005c0005t0043 a0005c0005t0053 a0005c0005t0128 a0005c0005t0129	a0005c0005t0016g0018 a0005c0005t0016g0050 a0005c0005t0016g0105 others(6): Show a0005c0005t0016g0018 a0005c0005t0016g0050 a0005c0005t0016g0105 a0005c0005t0016g0106 a0005c0005t0043g0035 a0005c0005t0053g0018 a0005c0005t0053g0050 a0005c0005t0128g0018 a0005c0005t0129g0018	11	438	0.0251	11	c.-9- others(24): Show c.-9-794_-9-793insTATAATCCCTA	GDPGP1	ENSG00000183208.13	transcript	ENST00000329600.8	protein_coding	3/3			chr15	TogoVar
GDPGP1_chr15_90229209_90250811	90246787	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0030 a0002c0002t0030	a0002c0002t0030g0001 a0002c0002t0030g0001	1	438	0.0023	11	c.47 others(22): Show c.4721_*4722insAAAAAAAAAAA	GDPGP1	ENSG00000183208.13	transcript	ENST00000329600.8	protein_coding		977		chr15	TogoVar
GEMIN2_chr14_39109323_39141973	39123708	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0319 a0001c0001t0001g0319	1	424	0.0024	11	c.486 others(28): Show c.486+1166_486+1167insATATATATATT	GEMIN2	ENSG00000092208.19	transcript	ENST00000308317.12	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
GEMIN2_chr14_39109323_39141973	39123709	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	HG00733.hp2 NA19012.hp1 HG00733.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0293 a0001c0001t0001g0312 a0001c0001t0001g0293 a0001c0001t0001g0312	2	424	0.0047	11	c.486 others(28): Show c.486+1166_486+1167insATATATATATA	GEMIN2	ENSG00000092208.19	transcript	ENST00000308317.12	protein_coding	5/9			chr14	TogoVar
GEMIN6_chr2_38773210_38790002	38773412	G G	GCCTCCTC others(4): Show GCCTCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	412	0.0024	11	c.-48 others(22): Show c.-4889_-4888insCCTCCTCCCTC	GEMIN6	ENSG00000152147.11	transcript	ENST00000281950.8	protein_coding		4797		chr2	TogoVar
GEMIN6_chr2_38773210_38790002	38779665	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG03669.hp1 HG01175.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0076 a0001c0001t0005g0069 a0001c0001t0002g0076 a0001c0001t0005g0069	2	412	0.0049	11	c.128 others(26): Show c.128+547_128+548insATATATATATA	GEMIN6	ENSG00000152147.11	transcript	ENST00000281950.8	protein_coding	2/2			chr2	TogoVar
GET1_chr21_39375326_39402889	39377784	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00735.hp1 HG01070.hp1 others(32): Show HG00280.hp1 HG00735.hp1 HG01070.hp1 HG01074.hp2 HG01081.hp1 HG01169.hp2 HG01361.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG02055.hp1 HG02109.hp2 HG02145.hp1 HG02280.hp2 HG02486.hp2 HG02622.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03540.hp1 NA18522.hp1 NA18950.hp2 NA18994.hp2 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0003 a0001c0001t0002g0011 a0001c0001t0002g0012 others(15): Show a0001c0001t0002g0003 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0017 a0001c0001t0002g0026 a0001c0001t0002g0046 a0001c0001t0002g0048 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0075 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0153 a0001c0001t0004g0003 a0001c0001t0004g0017	35	338	0.1036	11	c.-26 others(22): Show c.-2601_-2600insTTTTTTTTTTT	GET1	ENSG00000182093.16	transcript	ENST00000649170.1	protein_coding		2541		chr21	TogoVar
GET4_chr7_871554_901436	900888	C C	CGAAGGGC others(4): Show CGAAGGGCCGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 NA19240.hp1 HG02976.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0171 a0001c0003t0002g0046 a0001c0001t0001g0171 a0001c0003t0002g0046	2	384	0.0052	11	c.54 others(22): Show c.5466_*5467insGAAGGGCCGAA	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding		4453		chr7	TogoVar
GFER_chr16_1979193_1992749	1984011	G G	GCCCGGCC others(4): Show GCCCGGCCCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00642.hp2 HG00733.hp1 others(52): Show HG00280.hp1 HG00642.hp2 HG00733.hp1 HG00741.hp2 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01175.hp1 HG01192.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01928.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG02004.hp2 HG02071.hp1 HG02080.hp2 HG02129.hp1 HG02145.hp2 HG02148.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp2 HG02683.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG03017.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG04115.hp2 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18939.hp2 NA18980.hp1 NA18984.hp2 NA18988.hp2 NA19011.hp2 NA19083.hp1 NA19091.hp2 NA20752.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0006t0003	a0001c0001t0001g0001 a0001c0001t0003g0003 a0001c0001t0003g0017 others(3): Show a0001c0001t0001g0001 a0001c0001t0003g0003 a0001c0001t0003g0017 a0001c0001t0004g0003 a0001c0001t0009g0003 a0001c0006t0003g0003	55	426	0.1291	11	c.-20 others(20): Show c.-208_-207insCCCGGCCCCGC	GFER	ENSG00000127554.13	transcript	ENST00000248114.7	protein_coding		181		chr16	TogoVar
GFM2_chr5_74716206_74772117	74728770	T T	TTTTTTTT others(4): Show TTTTTTTTGAGA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01109.hp2 HG02148.hp1 others(1): Show HG00642.hp2 HG01109.hp2 HG02148.hp1 NA18906.hp2	a0003 a0009 a0003 a0009	a0003c0003 a0009c0012 a0003c0003 a0009c0012	a0003c0003t0001 a0009c0012t0001 a0003c0003t0001 a0009c0012t0001	a0003c0003t0001g0280 a0003c0003t0001g0287 a0003c0003t0001g0288 others(1): Show a0003c0003t0001g0280 a0003c0003t0001g0287 a0003c0003t0001g0288 a0009c0012t0001g0299	4	372	0.0108	11	c.172 others(30): Show c.1726+1489_1726+1490insTCTCAAAAAAA	GFM2	ENSG00000164347.18	transcript	ENST00000296805.8	protein_coding	17/20			chr5	TogoVar
GFOD1_chr6_13352830_13492600	13374309	G G	GTGTGTGT others(4): Show GTGTGTGTTTGT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG04204.hp1 HG02965.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0120 a0001c0004t0019 a0001c0001t0120 a0001c0004t0019	a0001c0001t0120g0187 a0001c0004t0019g0166 a0001c0001t0120g0187 a0001c0004t0019g0166	2	230	0.0087	11	c.254 others(28): Show c.254-8648_254-8647insACAAACACACA	GFOD1	ENSG00000145990.11	transcript	ENST00000379287.4	protein_coding	1/1			chr6	TogoVar
GFOD1_chr6_13352830_13492600	13394466	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02486.hp1 NA19043.hp1 HG01891.hp2 HG02486.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0107 a0001c0001t0141 a0001c0002t0060 a0001c0001t0107 a0001c0001t0141 a0001c0002t0060	a0001c0001t0107g0082 a0001c0001t0141g0228 a0001c0002t0060g0112 a0001c0001t0107g0082 a0001c0001t0141g0228 a0001c0002t0060g0112	3	230	0.0130	11	c.254 others(30): Show c.254-28815_254-28805dupAAAAAAAAAAA	GFOD1	ENSG00000145990.11	transcript	ENST00000379287.4	protein_coding	1/1			chr6	TogoVar
GFOD1_chr6_13352830_13492600	13477214	G G	GTGTGTGT others(4): Show GTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02083.hp1 HG01346.hp2 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0101 a0001c0001t0001 a0001c0001t0101	a0001c0001t0001g0143 a0001c0001t0101g0117 a0001c0001t0001g0143 a0001c0001t0101g0117	2	230	0.0087	11	c.253 others(28): Show c.253+9423_253+9424insACACACACACA	GFOD1	ENSG00000145990.11	transcript	ENST00000379287.4	protein_coding	1/1			chr6	TogoVar
GFOD2_chr16_67669536_67724316	67670856	G G	GCCTTCAC others(4): Show GCCTTCACGCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	186	0.0054	11	c.42 others(22): Show c.4298_*4299insAAGCGTGAAGG	GFOD2	ENSG00000141098.13	transcript	ENST00000268797.12	protein_coding		3679		chr16	TogoVar
GFPT2_chr5_180295698_180358336	180297440	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0001 a0001c0003t0002g0001	1	412	0.0024	11	c.41 others(22): Show c.4123_*4124insTTTTTTTTTTT	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		3257		chr5	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(4): Show AAAAAAAAATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0030 a0001c0004t0030	a0001c0004t0030g0368 a0001c0004t0030g0368	1	412	0.0024	11	c.41 others(22): Show c.4105_*4106insATATTTTTTTT	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		3239		chr5	TogoVar
GFPT2_chr5_180295698_180358336	180355463	A A	AAAAAAAA others(4): Show AAAAAAAAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG02040.hp1 NA18943.hp1 others(7): Show HG00673.hp1 HG02040.hp1 NA18943.hp1 NA18957.hp2 NA18985.hp2 NA18990.hp1 NA18993.hp2 NA19000.hp2 NA19079.hp1 NA19082.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0005 a0002c0002 a0001c0003 a0001c0005 a0002c0002	a0001c0003t0010 a0001c0005t0005 a0002c0002t0005 others(1): Show a0001c0003t0010 a0001c0005t0005 a0002c0002t0005 a0002c0002t0007	a0001c0003t0010g0028 a0001c0005t0005g0023 a0001c0005t0005g0029 others(7): Show a0001c0003t0010g0028 a0001c0005t0005g0023 a0001c0005t0005g0029 a0001c0005t0005g0032 a0001c0005t0005g0040 a0001c0005t0005g0041 a0001c0005t0005g0043 a0002c0002t0005g0048 a0002c0002t0007g0022 a0002c0002t0007g0026	10	412	0.0243	11	c.-22 others(22): Show c.-2247_-2246insATTTTTTTTTT	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		2128		chr5	TogoVar
GFRA1_chr10_116051925_116278206	116220930	T T	TAACATAG others(4): Show TAACATAGCCCC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0083 a0001c0002t0083	a0001c0002t0083g0015 a0001c0002t0083g0015	1	214	0.0047	11	c.419 others(28): Show c.419-9286_419-9285insGGGGCTATGTT	GFRA1	ENSG00000151892.16	transcript	ENST00000355422.11	protein_coding	4/10			chr10	TogoVar
GFRA2_chr8_21685398_21793875	21700257	A A	ACATGGGC others(4): Show ACATGGGCCGGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00408.hp2 others(187): Show HG00099.hp1 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG01081.hp2 HG01099.hp1 HG01168.hp1 HG01169.hp1 HG01243.hp2 HG01433.hp1 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18952.hp2 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18990.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA19000.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19085.hp1 NA19085.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008	a0001c0001 a0001c0003 a0001c0004 others(21): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0010 a0001c0019 a0001c0020 a0001c0028 a0002c0002 a0002c0005 a0002c0007 a0002c0016 a0002c0017 a0002c0021 a0003c0008 a0003c0027 a0004c0009 a0004c0011 a0004c0015 a0004c0018 a0005c0012 a0005c0013 a0007c0024 a0008c0026	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(69): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0019 a0001c0001t0020 a0001c0001t0025 a0001c0001t0030 a0001c0001t0031 a0001c0003t0001 a0001c0003t0005 a0001c0003t0006 a0001c0003t0007 a0001c0004t0001 a0001c0004t0004 a0001c0004t0006 a0001c0004t0007 a0001c0004t0008 a0001c0004t0009 a0001c0004t0013 a0001c0004t0018 a0001c0006t0002 a0001c0006t0009 a0001c0006t0023 a0001c0010t0004 a0001c0019t0020 a0001c0020t0005 a0001c0028t0048 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0006 a0002c0002t0008 a0002c0002t0010 a0002c0002t0015 a0002c0002t0017 a0002c0002t0028 a0002c0002t0037 a0002c0002t0038 a0002c0002t0044 a0002c0002t0046 a0002c0005t0002 a0002c0005t0003 a0002c0005t0017 a0002c0005t0047 a0002c0007t0002 a0002c0007t0003 a0002c0007t0022 a0002c0016t0003 a0002c0017t0002 a0002c0021t0010 a0003c0008t0012 a0003c0008t0014 a0003c0027t0014 a0004c0009t0005 a0004c0009t0013 a0004c0009t0039 a0004c0011t0005 a0004c0011t0009 a0004c0015t0008 a0004c0018t0040 a0005c0012t0010 a0005c0013t0003 a0005c0013t0010 a0007c0024t0019 a0008c0026t0003	a0001c0001t0001g0080 a0001c0001t0001g0102 a0001c0001t0001g0134 others(187): Show a0001c0001t0001g0080 a0001c0001t0001g0102 a0001c0001t0001g0134 a0001c0001t0001g0143 a0001c0001t0001g0153 a0001c0001t0003g0226 a0001c0001t0004g0217 a0001c0001t0004g0221 a0001c0001t0004g0222 a0001c0001t0004g0273 a0001c0001t0005g0192 a0001c0001t0005g0223 a0001c0001t0005g0231 a0001c0001t0005g0238 a0001c0001t0005g0241 a0001c0001t0005g0251 a0001c0001t0005g0254 a0001c0001t0005g0264 a0001c0001t0005g0284 a0001c0001t0005g0306 a0001c0001t0006g0013 a0001c0001t0006g0018 a0001c0001t0006g0027 a0001c0001t0006g0074 a0001c0001t0006g0146 a0001c0001t0006g0158 a0001c0001t0007g0005 a0001c0001t0007g0067 a0001c0001t0007g0073 a0001c0001t0007g0075 a0001c0001t0007g0087 a0001c0001t0007g0112 a0001c0001t0007g0119 a0001c0001t0007g0164 a0001c0001t0008g0252 a0001c0001t0008g0285 a0001c0001t0008g0302 a0001c0001t0008g0303 a0001c0001t0009g0202 a0001c0001t0011g0322 a0001c0001t0013g0182 a0001c0001t0013g0240 a0001c0001t0019g0025 a0001c0001t0019g0070 a0001c0001t0020g0307 a0001c0001t0020g0309 a0001c0001t0025g0001 a0001c0001t0030g0077 a0001c0001t0031g0121 a0001c0003t0001g0053 a0001c0003t0001g0054 a0001c0003t0001g0056 a0001c0003t0005g0253 a0001c0003t0006g0049 a0001c0003t0007g0051 a0001c0004t0001g0159 a0001c0004t0004g0258 a0001c0004t0006g0010 a0001c0004t0007g0179 a0001c0004t0008g0224 a0001c0004t0009g0228 a0001c0004t0009g0235 a0001c0004t0013g0230 a0001c0004t0013g0232 a0001c0004t0018g0116 a0001c0004t0018g0120 a0001c0006t0002g0028 a0001c0006t0009g0304 a0001c0006t0023g0208 a0001c0010t0004g0293 a0001c0010t0004g0298 a0001c0019t0020g0310 a0001c0020t0005g0186 a0001c0028t0048g0314 a0002c0002t0002g0002 a0002c0002t0002g0019 a0002c0002t0002g0030 a0002c0002t0002g0032 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0066 a0002c0002t0002g0076 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0086 a0002c0002t0002g0089 a0002c0002t0002g0094 a0002c0002t0002g0098 a0002c0002t0002g0106 a0002c0002t0002g0109 a0002c0002t0002g0111 a0002c0002t0002g0115 a0002c0002t0002g0123 a0002c0002t0002g0125 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0002g0131 a0002c0002t0002g0133 a0002c0002t0002g0144 a0002c0002t0002g0147 a0002c0002t0002g0156 a0002c0002t0002g0162 a0002c0002t0002g0163 a0002c0002t0002g0169 a0002c0002t0002g0180 a0002c0002t0003g0193 a0002c0002t0003g0203 a0002c0002t0003g0205 a0002c0002t0003g0206 a0002c0002t0003g0207 a0002c0002t0003g0250 a0002c0002t0003g0255 a0002c0002t0003g0260 a0002c0002t0003g0261 a0002c0002t0003g0262 a0002c0002t0003g0266 a0002c0002t0003g0271 a0002c0002t0003g0275 a0002c0002t0003g0279 a0002c0002t0003g0280 a0002c0002t0003g0282 a0002c0002t0003g0286 a0002c0002t0003g0288 a0002c0002t0003g0297 a0002c0002t0003g0299 a0002c0002t0005g0242 a0002c0002t0006g0110 a0002c0002t0008g0220 a0002c0002t0010g0185 a0002c0002t0010g0191 a0002c0002t0015g0004 a0002c0002t0015g0006 a0002c0002t0015g0007 a0002c0002t0015g0029 a0002c0002t0017g0107 a0002c0002t0028g0105 a0002c0002t0037g0204 a0002c0002t0038g0265 a0002c0002t0044g0308 a0002c0002t0046g0312 a0002c0005t0002g0046 a0002c0005t0002g0048 a0002c0005t0002g0052 a0002c0005t0002g0055 a0002c0005t0002g0057 a0002c0005t0002g0174 a0002c0005t0003g0183 a0002c0005t0003g0247 a0002c0005t0017g0009 a0002c0005t0017g0167 a0002c0005t0047g0313 a0002c0007t0002g0021 a0002c0007t0002g0022 a0002c0007t0002g0157 a0002c0007t0002g0165 a0002c0007t0003g0237 a0002c0007t0003g0301 a0002c0007t0022g0211 a0002c0007t0022g0227 a0002c0016t0003g0272 a0002c0017t0002g0047 a0002c0017t0002g0058 a0002c0021t0010g0225 a0003c0008t0012g0216 a0003c0008t0012g0248 a0003c0008t0012g0256 a0003c0008t0012g0281 a0003c0008t0012g0289 a0003c0008t0014g0101 a0003c0008t0014g0135 a0003c0008t0014g0137 a0003c0027t0014g0042 a0004c0009t0005g0200 a0004c0009t0013g0190 a0004c0009t0039g0188 a0004c0011t0005g0197 a0004c0011t0009g0195 a0004c0015t0008g0189 a0004c0015t0008g0196 a0004c0018t0040g0187 a0005c0012t0010g0198 a0005c0013t0003g0201 a0005c0013t0010g0229 a0007c0024t0019g0062 a0008c0026t0003g0274	190	322	0.5901	11	c.121 others(30): Show c.1218+2547_1218+2548insCCCGGCCCATG	GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	7/8			chr8	TogoVar
GFRA2_chr8_21685398_21793875	21736909	A A	AGGGGAGG others(4): Show AGGGGAGGGGAG	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0129 a0002c0002t0002g0129	1	322	0.0031	11	c.794 others(30): Show c.794+13668_794+13678dupCTCCCCTCCCC	GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	4/8			chr8	TogoVar
GFRA2_chr8_21685398_21793875	21769255	C C	CCCGCCCC others(4): Show CCCGCCCCAGCA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00544.hp2 others(78): Show HG00323.hp1 HG00408.hp1 HG00544.hp2 HG00733.hp1 HG00735.hp2 HG01255.hp1 HG01255.hp2 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01952.hp2 HG02004.hp2 HG02040.hp1 HG02055.hp1 HG02083.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02258.hp1 HG02300.hp1 HG02486.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02922.hp2 HG02970.hp2 HG03041.hp2 HG03225.hp2 HG03239.hp2 HG03491.hp2 HG03540.hp2 HG03669.hp2 HG03688.hp2 HG03710.hp2 HG03834.hp2 HG03942.hp2 HG04228.hp1 NA18522.hp2 NA18747.hp2 NA18944.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18952.hp1 NA18955.hp2 NA18957.hp1 NA18961.hp2 NA18963.hp1 NA18966.hp2 NA18971.hp1 NA18977.hp1 NA18977.hp2 NA18994.hp2 NA18995.hp2 NA19005.hp2 NA19012.hp1 NA19058.hp1 NA19060.hp2 NA19070.hp2 NA19074.hp2 NA19085.hp1 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0008	a0001c0001 a0001c0004 a0001c0006 others(9): Show a0001c0001 a0001c0004 a0001c0006 a0001c0010 a0001c0022 a0001c0025 a0002c0002 a0002c0007 a0002c0016 a0003c0008 a0007c0024 a0008c0026	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(25): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0019 a0001c0001t0024 a0001c0001t0042 a0001c0004t0005 a0001c0004t0006 a0001c0004t0007 a0001c0006t0016 a0001c0010t0004 a0001c0022t0007 a0001c0025t0029 a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0002c0002t0010 a0002c0002t0038 a0002c0002t0046 a0002c0007t0002 a0002c0007t0003 a0002c0016t0006 a0003c0008t0012 a0007c0024t0019 a0008c0026t0003	a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0068 others(78): Show a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0004g0263 a0001c0001t0004g0267 a0001c0001t0004g0269 a0001c0001t0004g0270 a0001c0001t0004g0273 a0001c0001t0004g0277 a0001c0001t0004g0278 a0001c0001t0004g0283 a0001c0001t0004g0290 a0001c0001t0004g0296 a0001c0001t0004g0300 a0001c0001t0005g0264 a0001c0001t0005g0284 a0001c0001t0006g0018 a0001c0001t0006g0027 a0001c0001t0006g0074 a0001c0001t0006g0142 a0001c0001t0007g0063 a0001c0001t0007g0067 a0001c0001t0007g0073 a0001c0001t0007g0075 a0001c0001t0008g0285 a0001c0001t0019g0070 a0001c0001t0024g0291 a0001c0001t0024g0294 a0001c0001t0042g0268 a0001c0004t0005g0276 a0001c0004t0006g0010 a0001c0004t0007g0179 a0001c0006t0016g0026 a0001c0006t0016g0069 a0001c0006t0016g0072 a0001c0010t0004g0292 a0001c0010t0004g0293 a0001c0010t0004g0298 a0001c0022t0007g0020 a0001c0025t0029g0071 a0002c0002t0002g0002 a0002c0002t0002g0019 a0002c0002t0002g0066 a0002c0002t0002g0076 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0082 a0002c0002t0002g0144 a0002c0002t0002g0163 a0002c0002t0002g0169 a0002c0002t0002g0180 a0002c0002t0003g0181 a0002c0002t0003g0260 a0002c0002t0003g0261 a0002c0002t0003g0262 a0002c0002t0003g0266 a0002c0002t0003g0275 a0002c0002t0003g0279 a0002c0002t0003g0280 a0002c0002t0003g0282 a0002c0002t0003g0286 a0002c0002t0003g0288 a0002c0002t0003g0297 a0002c0002t0003g0299 a0002c0002t0006g0065 a0002c0002t0010g0185 a0002c0002t0038g0265 a0002c0002t0046g0312 a0002c0007t0002g0021 a0002c0007t0002g0022 a0002c0007t0002g0165 a0002c0007t0003g0237 a0002c0016t0006g0017 a0003c0008t0012g0281 a0003c0008t0012g0289 a0007c0024t0019g0062 a0008c0026t0003g0274	81	322	0.2516	11	c.439 others(28): Show c.439+5716_439+5717insTGCTGGGGCGG	GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	3/8			chr8	TogoVar
GFRA2_chr8_21685398_21793875	21790723	G G	GAGTTGGG others(4): Show GAGTTGGGGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0268 a0001c0001t0042g0268	1	322	0.0031	11	c.-25 others(22): Show c.-2575_-2565dupTTTCCCCAACT	GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding		1849		chr8	TogoVar
GFRA3_chr5_138247380_138279621	138271907	T T	TGTGTGTG others(4): Show TGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0341 a0001c0001t0002g0341	1	376	0.0027	11	c.91+ others(26): Show c.91+2426_91+2427insCACACACACAC	GFRA3	ENSG00000146013.11	transcript	ENST00000274721.8	protein_coding	1/7			chr5	TogoVar
GFRA3_chr5_138247380_138279621	138271909	T T	TGTGTGTG others(4): Show TGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG03239.hp2 HG03490.hp1 others(1): Show HG00733.hp2 HG03239.hp2 HG03490.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0249 a0001c0001t0002g0289 a0001c0001t0002g0290 others(1): Show a0001c0001t0002g0249 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291	4	376	0.0106	11	c.91+ others(26): Show c.91+2424_91+2425insCACACACACAC	GFRA3	ENSG00000146013.11	transcript	ENST00000274721.8	protein_coding	1/7			chr5	TogoVar
GFRA3_chr5_138247380_138279621	138271911	T T	TGTGTGTG others(4): Show TGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0264 a0001c0001t0002g0264	1	376	0.0027	11	c.91+ others(26): Show c.91+2422_91+2423insCACACACACAC	GFRA3	ENSG00000146013.11	transcript	ENST00000274721.8	protein_coding	1/7			chr5	TogoVar
GFRA3_chr5_138247380_138279621	138271913	T T	TGTGTGTG others(4): Show TGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0258 a0001c0001t0002g0258	1	376	0.0027	11	c.91+ others(26): Show c.91+2420_91+2421insCACACACACAC	GFRA3	ENSG00000146013.11	transcript	ENST00000274721.8	protein_coding	1/7			chr5	TogoVar
GFRA3_chr5_138247380_138279621	138271913	T T	TTTTTTTG others(4): Show TTTTTTTGTGTG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02559.hp2 HG02622.hp1 others(1): Show HG02109.hp1 HG02559.hp2 HG02622.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0010 a0001c0001t0001g0221 a0001c0001t0001g0222	4	376	0.0106	11	c.91+ others(26): Show c.91+2420_91+2421insCACACAAAAAA	GFRA3	ENSG00000146013.11	transcript	ENST00000274721.8	protein_coding	1/7			chr5	TogoVar
GFRA3_chr5_138247380_138279621	138271913	T T	TTTTTTTT others(4): Show TTTTTTTTTGTG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	376	0.0027	11	c.91+ others(26): Show c.91+2420_91+2421insCACAAAAAAAA	GFRA3	ENSG00000146013.11	transcript	ENST00000274721.8	protein_coding	1/7			chr5	TogoVar
GFRA3_chr5_138247380_138279621	138271945	G G	GTGTGTGT others(4): Show GTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0254 a0001c0001t0002g0254	1	376	0.0027	11	c.91+ others(26): Show c.91+2388_91+2389insACACACACACA	GFRA3	ENSG00000146013.11	transcript	ENST00000274721.8	protein_coding	1/7			chr5	TogoVar
GFRAL_chr6_55322469_55407493	55395175	A A	AAAAATAT others(4): Show AAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01884.hp2 HG03239.hp2 others(1): Show HG01358.hp2 HG01884.hp2 HG03239.hp2 NA18954.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0003 a0001c0001t0003 a0002c0002t0003	a0001c0001t0003g0206 a0001c0001t0003g0309 a0002c0002t0003g0061 others(1): Show a0001c0001t0003g0206 a0001c0001t0003g0309 a0002c0002t0003g0061 a0002c0002t0003g0070	4	386	0.0104	11	c.953 others(28): Show c.953-4004_953-4003insAAATATATATA	GFRAL	ENSG00000187871.2	transcript	ENST00000340465.2	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
GFRAL_chr6_55322469_55407493	55395175	A A	AAATATAT others(4): Show AAATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00642.hp1 others(27): Show HG00408.hp2 HG00438.hp2 HG00642.hp1 HG00673.hp1 HG01934.hp2 HG02055.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02602.hp2 HG02965.hp1 HG03239.hp1 HG03688.hp1 HG04204.hp2 NA18939.hp2 NA18941.hp1 NA18944.hp2 NA18956.hp1 NA18963.hp2 NA18966.hp2 NA18970.hp1 NA18982.hp1 NA18987.hp1 NA19009.hp1 NA19056.hp2 NA19064.hp1 NA19077.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0003 a0001c0001t0003 a0002c0002t0003	a0001c0001t0003g0207 a0001c0001t0003g0344 a0001c0001t0003g0353 others(26): Show a0001c0001t0003g0207 a0001c0001t0003g0344 a0001c0001t0003g0353 a0002c0002t0003g0003 a0002c0002t0003g0019 a0002c0002t0003g0020 a0002c0002t0003g0041 a0002c0002t0003g0042 a0002c0002t0003g0043 a0002c0002t0003g0044 a0002c0002t0003g0046 a0002c0002t0003g0049 a0002c0002t0003g0050 a0002c0002t0003g0053 a0002c0002t0003g0057 a0002c0002t0003g0059 a0002c0002t0003g0060 a0002c0002t0003g0062 a0002c0002t0003g0065 a0002c0002t0003g0067 a0002c0002t0003g0069 a0002c0002t0003g0072 a0002c0002t0003g0076 a0002c0002t0003g0077 a0002c0002t0003g0081 a0002c0002t0003g0083 a0002c0002t0003g0084 a0002c0002t0003g0366 a0002c0002t0003g0367	30	386	0.0777	11	c.953 others(28): Show c.953-4004_953-4003insATATATATATA	GFRAL	ENSG00000187871.2	transcript	ENST00000340465.2	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
GFRAL_chr6_55322469_55407493	55395175	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02647.hp2 HG02895.hp2 others(2): Show HG02451.hp2 HG02647.hp2 HG02895.hp2 NA18962.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0011 a0002c0002t0003 a0001c0001t0003 a0001c0001t0011 a0002c0002t0003	a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0011g0021 others(2): Show a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0011g0021 a0002c0002t0003g0056 a0002c0002t0003g0066	5	386	0.0130	11	c.953 others(28): Show c.953-4005_953-4004insTATATATATAT	GFRAL	ENSG00000187871.2	transcript	ENST00000340465.2	protein_coding	6/8			chr6	TogoVar
GGA2_chr16_23458542_23515494	23511975	T T	TCAGCCTG others(4): Show TCAGCCTGTCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0178 a0001c0001t0002g0178	1	254	0.0039	11	c.-15 others(22): Show c.-1565_-1564insTAGACAGGCTG	GGA2	ENSG00000103365.15	transcript	ENST00000309859.8	protein_coding		1482		chr16	TogoVar
GGA3_chr17_75231599_75266606	75236306	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0218 a0001c0001t0020g0218	1	364	0.0028	11	c.19 others(22): Show c.1972_*1973insTTTTTTTTTTT	GGA3	ENSG00000125447.18	transcript	ENST00000537686.6	protein_coding		292		chr17	TogoVar
GGA3_chr17_75231599_75266606	75248468	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00408.hp1 others(49): Show HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00558.hp2 HG00609.hp2 HG00639.hp1 HG01074.hp1 HG01081.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01255.hp1 HG01256.hp1 HG01346.hp1 HG01517.hp1 HG01891.hp2 HG01943.hp2 HG01975.hp1 HG01993.hp1 HG01993.hp2 HG02040.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02148.hp1 HG02155.hp1 HG02451.hp1 HG02735.hp1 HG02735.hp2 HG02895.hp2 HG02897.hp1 HG03017.hp1 HG03491.hp2 HG03654.hp2 HG03704.hp1 HG04184.hp1 NA18747.hp1 NA18945.hp1 NA18946.hp2 NA18948.hp2 NA18962.hp1 NA18964.hp2 NA18971.hp2 NA19030.hp2 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19077.hp1 NA19089.hp1 NA20129.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0011 a0001c0001 a0001c0006 a0001c0011	a0001c0001t0001 a0001c0001t0007 a0001c0006t0005 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0006t0005 a0001c0011t0001	a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0021 others(38): Show a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0079 a0001c0001t0001g0100 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0138 a0001c0001t0001g0143 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0195 a0001c0001t0001g0201 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0007g0163 a0001c0006t0005g0211 a0001c0011t0001g0114	52	364	0.1429	11	c.41- others(26): Show c.41-1683_41-1673dupTTTTTTTTTTT	GGA3	ENSG00000125447.18	transcript	ENST00000537686.6	protein_coding	1/16			chr17	TogoVar
GGACT_chr13_100525180_100593789	100543197	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03453.hp1 HG02965.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0026 a0001c0001t0005g0034 a0001c0001t0005g0026 a0001c0001t0005g0034	2	376	0.0053	11	c.-10 others(30): Show c.-10-10607_-10-10597dupAAAAAAAAAAA	GGACT	ENSG00000134864.11	transcript	ENST00000683975.1	protein_coding	2/2			chr13	TogoVar
GGACT_chr13_100525180_100593789	100589821	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG02735.hp1 HG03834.hp1 others(5): Show HG02071.hp1 HG02735.hp1 HG03834.hp1 NA18982.hp1 NA18989.hp1 NA18991.hp2 NA19002.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0026 a0001c0001t0027 a0001c0001t0004 a0001c0001t0026 a0001c0001t0027	a0001c0001t0004g0005 a0001c0001t0004g0035 a0001c0001t0004g0036 others(5): Show a0001c0001t0004g0005 a0001c0001t0004g0035 a0001c0001t0004g0036 a0001c0001t0004g0037 a0001c0001t0004g0038 a0001c0001t0004g0040 a0001c0001t0026g0043 a0001c0001t0027g0042	8	376	0.0213	11	c.-12 others(22): Show c.-1265_-1264insAAAAAAAAAAA	GGACT	ENSG00000134864.11	transcript	ENST00000683975.1	protein_coding		1033		chr13	TogoVar
GGNBP2_chr17_36539919_36594848	36548615	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	357	0.0028	11	c.93+ others(26): Show c.93+2825_93+2835dupAAAAAAAAAAA	GGNBP2	ENSG00000278311.5	transcript	ENST00000613102.5	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
GGT1_chr22_24598193_24633996	24605036	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02148.hp1 HG03195.hp2 others(2): Show HG02004.hp2 HG02148.hp1 HG03195.hp2 NA19011.hp2 NA19060.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0333 a0001c0001t0002g0409 a0002c0002t0002g0317 others(2): Show a0001c0001t0002g0333 a0001c0001t0002g0409 a0002c0002t0002g0317 a0002c0002t0002g0318 a0002c0002t0002g0331	5	426	0.0117	11	c.-42 others(30): Show c.-429+1509_-429+1510insTATATATATAT	GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15			chr22	TogoVar
GGT1_chr22_24598193_24633996	24614348	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02622.hp2 HG03098.hp1 others(1): Show HG01099.hp1 HG02622.hp2 HG03098.hp1 HG03453.hp1	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0003 a0002c0003t0008 a0002c0004t0008 a0002c0003t0003 a0002c0003t0008 a0002c0004t0008	a0002c0003t0003g0012 a0002c0003t0003g0013 a0002c0003t0008g0266 others(1): Show a0002c0003t0003g0012 a0002c0003t0003g0013 a0002c0003t0008g0266 a0002c0004t0008g0269	4	426	0.0094	11	c.165 others(26): Show c.165-409_165-399dupAAAAAAAAAAA	GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
GGTA1_chr9_121450040_121504844	121496731	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	338	0.0030	11	c.-10 others(28): Show c.-10+2908_-10+2918dupTTTTTTTTTTT	GGTA1	ENSG00000204136.12	transcript	ENST00000481799.6	protein_coding	1/5			chr9	TogoVar
GGTLC2_chr22_22639614_22652898	22644882	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA18612.hp1 NA19012.hp1 others(1): Show HG03516.hp1 NA18612.hp1 NA19012.hp1 NA19087.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0005 a0002c0002 a0003c0005	a0002c0002t0006 a0003c0005t0004 a0002c0002t0006 a0003c0005t0004	a0002c0002t0006g0048 a0002c0002t0006g0049 a0002c0002t0006g0050 others(1): Show a0002c0002t0006g0048 a0002c0002t0006g0049 a0002c0002t0006g0050 a0003c0005t0004g0072	4	412	0.0097	11	c.-35 others(26): Show c.-35+190_-35+200dupTTTTTTTTTTT	GGTLC2	ENSG00000100121.14	transcript	ENST00000448514.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
GHR_chr5_42418439_42726878	42471684	A A	AGAACTGT others(4): Show AGAACTGTAGCT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02559.hp2 HG02647.hp2 HG01891.hp2 HG02559.hp2 HG02647.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0005 a0003c0005t0007 a0003c0005t0021 a0003c0005t0005 a0003c0005t0007 a0003c0005t0021	a0003c0005t0005g0034 a0003c0005t0007g0033 a0003c0005t0021g0032 a0003c0005t0005g0034 a0003c0005t0007g0033 a0003c0005t0021g0032	3	210	0.0143	11	c.-12 others(30): Show c.-12+47731_-12+47741dupAACTGTAGCTG	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GHR_chr5_42418439_42726878	42563624	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0158 a0002c0002t0001g0158	1	210	0.0048	11	c.-11 others(28): Show c.-11-2224_-11-2214dupAAAAAAAAAAA	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GHR_chr5_42418439_42726878	42576046	T T	TAAATAAA others(4): Show TAAATAAAATAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG03710.hp1 HG02895.hp2 HG02897.hp2 HG03710.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0186 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0186	3	210	0.0143	11	c.70+ others(28): Show c.70+10104_70+10105insATAAAATAAAA	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GHR_chr5_42418439_42726878	42576099	T T	TAAAATAA others(4): Show TAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0203 a0002c0002t0001g0203	1	210	0.0048	11	c.70+ others(28): Show c.70+10158_70+10159insATAAAATAAAA	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GHR_chr5_42418439_42726878	42576102	A A	AGTAAAGT others(4): Show AGTAAAGTAAAG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0137	1	210	0.0048	11	c.70+ others(28): Show c.70+10158_70+10159insGTAAAGTAAAG	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	2/9			chr5	TogoVar
GHR_chr5_42418439_42726878	42588526	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01069.hp1 HG01069.hp2 others(10): Show HG00140.hp1 HG01069.hp1 HG01069.hp2 HG01074.hp2 HG01081.hp1 HG01255.hp1 HG01255.hp2 HG01358.hp2 HG02040.hp2 HG02083.hp1 HG02818.hp1 HG03834.hp2 NA18940.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0003c0005 a0004c0004	a0001c0001t0005 a0002c0002t0006 a0003c0003t0003 others(2): Show a0001c0001t0005 a0002c0002t0006 a0003c0003t0003 a0003c0005t0004 a0004c0004t0029	a0001c0001t0005g0025 a0002c0002t0006g0018 a0002c0002t0006g0024 others(10): Show a0001c0001t0005g0025 a0002c0002t0006g0018 a0002c0002t0006g0024 a0002c0002t0006g0072 a0002c0002t0006g0078 a0002c0002t0006g0100 a0003c0003t0003g0089 a0003c0003t0003g0119 a0003c0003t0003g0145 a0003c0003t0003g0153 a0003c0003t0003g0178 a0003c0005t0004g0043 a0004c0004t0029g0118	13	210	0.0619	11	c.70+ others(28): Show c.70+22597_70+22607dupAAAAAAAAAAA	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GIGYF2_chr2_232692331_232865605	232820795	G G	GTGGTGGG others(4): Show GTGGTGGGAAAA	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0294 a0001c0002t0001g0294	1	376	0.0027	11	c.252 others(28): Show c.2529+810_2529+811insTGGTGGGAAAA	GIGYF2	ENSG00000204120.16	transcript	ENST00000373563.9	protein_coding	21/28			chr2	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)