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
GNA15_chr19_3131033_3168749	3145359	A A	ATATATAT others(4): Show ATATATATACTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	450	0.0022	11	c.146 others(28): Show c.146-3231_146-3230insATATATACTTT	GNA15	ENSG00000060558.4	transcript	ENST00000262958.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
GNA15_chr19_3131033_3168749	3145359	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02965.hp1 HG03225.hp1 others(2): Show HG02886.hp1 HG02965.hp1 HG03225.hp1 HG03471.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0009 a0001c0001 a0001c0003 a0001c0009	a0001c0001t0001 a0001c0003t0001 a0001c0009t0001 a0001c0001t0001 a0001c0003t0001 a0001c0009t0001	a0001c0001t0001g0365 a0001c0003t0001g0281 a0001c0003t0001g0284 others(2): Show a0001c0001t0001g0365 a0001c0003t0001g0281 a0001c0003t0001g0284 a0001c0003t0001g0285 a0001c0009t0001g0308	5	450	0.0111	11	c.146 others(28): Show c.146-3231_146-3230insATATATATATT	GNA15	ENSG00000060558.4	transcript	ENST00000262958.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
GNA15_chr19_3131033_3168749	3145359	A A	ATATATAT others(4): Show ATATATATATTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02896.hp1 HG01891.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0062 a0001c0003t0001g0287 a0001c0001t0001g0062 a0001c0003t0001g0287	2	450	0.0044	11	c.146 others(28): Show c.146-3231_146-3230insATATATATTTT	GNA15	ENSG00000060558.4	transcript	ENST00000262958.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
GNA15_chr19_3131033_3168749	3145359	A A	ATATTTTT others(4): Show ATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03453.hp1 HG03195.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0324 a0001c0008t0001g0056 a0001c0001t0001g0324 a0001c0008t0001g0056	2	450	0.0044	11	c.146 others(28): Show c.146-3231_146-3230insATTTTTTTTTT	GNA15	ENSG00000060558.4	transcript	ENST00000262958.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
GNA15_chr19_3131033_3168749	3145360	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0418 a0001c0001t0002g0418	1	450	0.0022	11	c.146 others(28): Show c.146-3231_146-3230insATATATATATA	GNA15	ENSG00000060558.4	transcript	ENST00000262958.4	protein_coding	1/6			chr19	TogoVar
GNA15_chr19_3131033_3168749	3168631	T T	TTTATTTA others(4): Show TTTATTTATTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00558.hp2 HG00621.hp2 others(39): Show HG00323.hp2 HG00558.hp2 HG00621.hp2 HG00642.hp1 HG01070.hp1 HG01106.hp1 HG01978.hp1 HG02004.hp1 HG02027.hp2 HG02273.hp1 HG02293.hp2 HG02523.hp2 HG02965.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04199.hp1 NA18612.hp1 NA18944.hp1 NA18944.hp2 NA18952.hp1 NA18957.hp2 NA18959.hp2 NA18968.hp2 NA18980.hp2 NA18982.hp1 NA18994.hp2 NA19000.hp1 NA19002.hp1 NA19005.hp2 NA19011.hp1 NA19012.hp1 NA19054.hp1 NA19056.hp2 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19087.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0002t0007 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0007 a0001c0003t0001	a0001c0001t0001g0084 a0001c0002t0001g0002 a0001c0002t0001g0022 others(37): Show a0001c0001t0001g0084 a0001c0002t0001g0002 a0001c0002t0001g0022 a0001c0002t0001g0033 a0001c0002t0001g0044 a0001c0002t0001g0047 a0001c0002t0001g0054 a0001c0002t0001g0079 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0151 a0001c0002t0001g0159 a0001c0002t0001g0166 a0001c0002t0001g0180 a0001c0002t0001g0206 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0342 a0001c0002t0001g0343 a0001c0002t0001g0346 a0001c0002t0001g0361 a0001c0002t0001g0367 a0001c0002t0001g0368 a0001c0002t0001g0370 a0001c0002t0001g0372 a0001c0002t0001g0373 a0001c0002t0001g0380 a0001c0002t0001g0394 a0001c0002t0001g0403 a0001c0002t0001g0406 a0001c0002t0007g0140 a0001c0002t0007g0160 a0001c0002t0007g0163 a0001c0003t0001g0011 a0001c0003t0001g0023 a0001c0003t0001g0226 a0001c0003t0001g0229 a0001c0003t0001g0253	42	450	0.0933	11	c.56 others(22): Show c.5612_*5613insTTATTTATTTA	GNA15	ENSG00000060558.4	transcript	ENST00000262958.4	protein_coding		4883		chr19	TogoVar
GNAI1_chr7_80129831_80231181	80200322	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0110 a0001c0001t0110	a0001c0001t0110g0008 a0001c0001t0110g0008	1	312	0.0032	11	c.461 others(26): Show c.461+940_461+941insAAAAAAAAAAA	GNAI1	ENSG00000127955.17	transcript	ENST00000649796.2	protein_coding	4/7			chr7	TogoVar
GNAI1_chr7_80129831_80231181	80200324	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01175.hp2 HG01358.hp2 others(3): Show HG01109.hp2 HG01175.hp2 HG01358.hp2 HG01515.hp2 HG03927.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0012 a0001c0001t0020 others(2): Show a0001c0001t0006 a0001c0001t0012 a0001c0001t0020 a0001c0001t0049 a0001c0001t0063	a0001c0001t0006g0017 a0001c0001t0012g0256 a0001c0001t0012g0268 others(3): Show a0001c0001t0006g0017 a0001c0001t0012g0256 a0001c0001t0012g0268 a0001c0001t0020g0288 a0001c0001t0049g0178 a0001c0001t0063g0128	6	312	0.0192	11	c.461 others(26): Show c.461+955_461+965dupAAAAAAAAAAA	GNAI1	ENSG00000127955.17	transcript	ENST00000649796.2	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
GNAI3_chr1_109543615_109605195	109577269	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0243 a0001c0001t0032g0243	1	310	0.0032	11	c.304 others(28): Show c.304-1927_304-1926insTTTTTTTTTTT	GNAI3	ENSG00000065135.12	transcript	ENST00000369851.7	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
GNAL_chr18_11684264_11890685	11788897	G G	GAAAAAAA others(4): Show GAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0025 a0001c0001t0033g0025	1	248	0.0040	11	c.624 others(30): Show c.624+34960_624+34970dupAAAAAAAAAAA	GNAL	ENSG00000141404.17	transcript	ENST00000334049.11	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
GNAL_chr18_11684264_11890685	11788897	G G	GGAAAAAA others(4): Show GGAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03130.hp2 HG03209.hp2 HG02258.hp1 HG03130.hp2 HG03209.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0003 a0001c0001t0040 a0003c0003t0054 a0001c0001t0003 a0001c0001t0040 a0003c0003t0054	a0001c0001t0003g0067 a0001c0001t0040g0065 a0003c0003t0054g0055 a0001c0001t0003g0067 a0001c0001t0040g0065 a0003c0003t0054g0055	3	248	0.0121	11	c.624 others(30): Show c.624+34952_624+34953insGAAAAAAAAAA	GNAL	ENSG00000141404.17	transcript	ENST00000334049.11	protein_coding	4/11			chr18	TogoVar
GNAL_chr18_11684264_11890685	11788914	A A	AAAAAAAA others(4): Show AAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03490.hp2 NA19000.hp2 others(1): Show HG02809.hp2 HG03490.hp2 NA19000.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0030 a0001c0001t0102 others(1): Show a0001c0001t0002 a0001c0001t0030 a0001c0001t0102 a0001c0001t0164	a0001c0001t0002g0215 a0001c0001t0030g0012 a0001c0001t0102g0131 others(1): Show a0001c0001t0002g0215 a0001c0001t0030g0012 a0001c0001t0102g0131 a0001c0001t0164g0026	4	248	0.0161	11	c.624 others(30): Show c.624+34970_624+34971insAAAAAAATATA	GNAL	ENSG00000141404.17	transcript	ENST00000334049.11	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
GNAL_chr18_11684264_11890685	11788914	A A	AAAAATAT others(4): Show AAAAATATATAT	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0143 a0001c0001t0143	a0001c0001t0143g0163 a0001c0001t0143g0163	1	248	0.0040	11	c.624 others(30): Show c.624+34970_624+34971insAAATATATATA	GNAL	ENSG00000141404.17	transcript	ENST00000334049.11	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
GNAL_chr18_11684264_11890685	11796575	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01433.hp2 HG02258.hp2 others(1): Show HG00735.hp1 HG01433.hp2 HG02258.hp2 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0141 a0001c0001t0149 others(1): Show a0001c0001t0033 a0001c0001t0141 a0001c0001t0149 a0001c0001t0172	a0001c0001t0033g0018 a0001c0001t0141g0195 a0001c0001t0149g0160 others(1): Show a0001c0001t0033g0018 a0001c0001t0141g0195 a0001c0001t0149g0160 a0001c0001t0172g0094	4	248	0.0161	11	c.625 others(30): Show c.625-28333_625-28323dupAAAAAAAAAAA	GNAL	ENSG00000141404.17	transcript	ENST00000334049.11	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
GNAL_chr18_11747085_11890685	11788897	G G	GAAAAAAA others(4): Show GAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0278 a0001c0001t0005g0278	1	284	0.0035	11	c.393 others(30): Show c.393+34960_393+34970dupAAAAAAAAAAA	GNAL	ENSG00000141404.17	transcript	ENST00000423027.8	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
GNAL_chr18_11747085_11890685	11788897	G G	GGAAAAAA others(4): Show GGAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03130.hp1 HG03209.hp2 HG02258.hp2 HG03130.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0041 a0001c0001t0087 a0001c0001t0003 a0001c0001t0041 a0001c0001t0087	a0001c0001t0003g0194 a0001c0001t0041g0057 a0001c0001t0087g0186 a0001c0001t0003g0194 a0001c0001t0041g0057 a0001c0001t0087g0186	3	284	0.0106	11	c.393 others(30): Show c.393+34952_393+34953insGAAAAAAAAAA	GNAL	ENSG00000141404.17	transcript	ENST00000423027.8	protein_coding	4/11			chr18	TogoVar
GNAL_chr18_11747085_11890685	11788914	A A	AAAAAAAA others(4): Show AAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03490.hp2 NA19000.hp1 others(1): Show HG02809.hp2 HG03490.hp2 NA19000.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0037 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0037 a0001c0001t0082	a0001c0001t0001g0031 a0001c0001t0002g0042 a0001c0001t0037g0053 others(1): Show a0001c0001t0001g0031 a0001c0001t0002g0042 a0001c0001t0037g0053 a0001c0001t0082g0036	4	284	0.0141	11	c.393 others(30): Show c.393+34970_393+34971insAAAAAAATATA	GNAL	ENSG00000141404.17	transcript	ENST00000423027.8	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
GNAL_chr18_11747085_11890685	11788914	A A	AAAAATAT others(4): Show AAAAATATATAT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18959.hp1 NA18941.hp2 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0018 a0001c0001t0002 a0001c0001t0018	a0001c0001t0002g0047 a0001c0001t0018g0046 a0001c0001t0002g0047 a0001c0001t0018g0046	2	284	0.0070	11	c.393 others(30): Show c.393+34970_393+34971insAAATATATATA	GNAL	ENSG00000141404.17	transcript	ENST00000423027.8	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
GNAL_chr18_11747085_11890685	11796575	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01433.hp2 HG02258.hp1 others(1): Show HG00735.hp1 HG01433.hp2 HG02258.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0044 a0001c0001t0047 others(1): Show a0001c0001t0005 a0001c0001t0044 a0001c0001t0047 a0001c0001t0149	a0001c0001t0005g0236 a0001c0001t0044g0237 a0001c0001t0047g0244 others(1): Show a0001c0001t0005g0236 a0001c0001t0044g0237 a0001c0001t0047g0244 a0001c0001t0149g0235	4	284	0.0141	11	c.394 others(30): Show c.394-28333_394-28323dupAAAAAAAAAAA	GNAL	ENSG00000141404.17	transcript	ENST00000423027.8	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
GNAO1_chr16_56186489_56362444	56355155	C C	CACACACA others(4): Show CACACACACACA	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0267 a0001c0002t0004g0267	1	298	0.0034	11	c.28 others(24): Show c.28+74_*28+75insACACACACACA	GNAO1	ENSG00000087258.16	transcript	ENST00000262493.12	protein_coding	8/8			chr16	TogoVar
GNAO1_chr16_56186489_56362444	56359469	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG02698.hp2 HG04199.hp2 HG01346.hp2 HG02698.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0010 a0001c0002t0002 a0001c0001t0005 a0001c0001t0010 a0001c0002t0002	a0001c0001t0005g0206 a0001c0001t0010g0040 a0001c0002t0002g0190 a0001c0001t0005g0206 a0001c0001t0010g0040 a0001c0002t0002g0190	3	298	0.0101	11	c.33 others(22): Show c.3395_*3396insAAAAAAAAAAA	GNAO1	ENSG00000087258.16	transcript	ENST00000262493.12	protein_coding		2026		chr16	TogoVar
GNAQ_chr9_77711097_78036811	77761584	C C	CGGGAGGT others(4): Show CGGGAGGTGAGG	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0102 a0001c0001t0069g0102	1	282	0.0036	11	c.735 others(30): Show c.735+32868_735+32878dupCCTCACCTCCC	GNAQ	ENSG00000156052.11	transcript	ENST00000286548.9	protein_coding	5/6			chr9	TogoVar
GNAQ_chr9_77711097_78036811	77828059	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01109.hp1 HG01884.hp2 others(6): Show HG01074.hp1 HG01109.hp1 HG01884.hp2 HG02615.hp1 NA18998.hp1 NA19000.hp2 NA19004.hp2 NA19054.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0017 a0001c0001t0025	a0001c0001t0001g0206 a0001c0001t0002g0194 a0001c0001t0003g0223 others(6): Show a0001c0001t0001g0206 a0001c0001t0002g0194 a0001c0001t0003g0223 a0001c0001t0003g0251 a0001c0001t0004g0270 a0001c0001t0007g0189 a0001c0001t0007g0203 a0001c0001t0017g0064 a0001c0001t0025g0051	9	282	0.0319	11	c.322 others(30): Show c.322-12300_322-12290dupTTTTTTTTTTT	GNAQ	ENSG00000156052.11	transcript	ENST00000286548.9	protein_coding	2/6			chr9	TogoVar
GNAQ_chr9_77711097_78036811	77874109	A A	AAAAAAAA others(4): Show AAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00738.hp2 HG01069.hp1 others(36): Show HG00621.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01361.hp2 HG01496.hp2 HG01891.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp2 HG02056.hp2 HG02071.hp1 HG02083.hp1 HG02148.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp2 HG02602.hp1 HG02922.hp2 HG03195.hp1 HG04184.hp2 NA18747.hp1 NA18944.hp2 NA18962.hp2 NA18967.hp2 NA18969.hp1 NA18974.hp2 NA18994.hp1 NA19000.hp1 NA19009.hp2 NA19011.hp1 NA19054.hp1 NA19054.hp2 NA19068.hp1 NA19077.hp1 NA19081.hp1 NA19240.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(12): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0027 a0001c0001t0040 a0001c0001t0051 a0001c0001t0062 a0001c0001t0064 a0001c0001t0078 a0001c0001t0080 a0002c0002t0002	a0001c0001t0002g0044 a0001c0001t0002g0074 a0001c0001t0002g0075 others(36): Show a0001c0001t0002g0044 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0164 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0271 a0001c0001t0003g0251 a0001c0001t0004g0165 a0001c0001t0005g0248 a0001c0001t0008g0092 a0001c0001t0008g0115 a0001c0001t0008g0116 a0001c0001t0008g0119 a0001c0001t0009g0034 a0001c0001t0012g0192 a0001c0001t0027g0073 a0001c0001t0027g0117 a0001c0001t0040g0020 a0001c0001t0051g0104 a0001c0001t0062g0129 a0001c0001t0064g0132 a0001c0001t0078g0085 a0001c0001t0080g0128 a0002c0002t0002g0080	39	282	0.1383	11	c.321 others(30): Show c.321+48051_321+48052insGTTTTTTTTTT	GNAQ	ENSG00000156052.11	transcript	ENST00000286548.9	protein_coding	2/6			chr9	TogoVar
GNAQ_chr9_77711097_78036811	77889410	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	282	0.0036	11	c.321 others(30): Show c.321+32740_321+32750dupTTTTTTTTTTT	GNAQ	ENSG00000156052.11	transcript	ENST00000286548.9	protein_coding	2/6			chr9	TogoVar
GNAQ_chr9_77711097_78036811	77904317	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0216 a0001c0001t0003g0216	1	282	0.0036	11	c.321 others(30): Show c.321+17833_321+17843dupAAAAAAAAAAA	GNAQ	ENSG00000156052.11	transcript	ENST00000286548.9	protein_coding	2/6			chr9	TogoVar
GNAQ_chr9_77711097_78036811	77984049	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01168.hp1 HG01169.hp2 others(3): Show HG01074.hp2 HG01168.hp1 HG01169.hp2 HG03041.hp1 NA18522.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0019 a0001c0001t0032 others(1): Show a0001c0001t0018 a0001c0001t0019 a0001c0001t0032 a0001c0001t0072	a0001c0001t0018g0266 a0001c0001t0018g0267 a0001c0001t0018g0268 others(3): Show a0001c0001t0018g0266 a0001c0001t0018g0267 a0001c0001t0018g0268 a0001c0001t0019g0277 a0001c0001t0032g0274 a0001c0001t0072g0035	6	282	0.0213	11	c.136 others(30): Show c.136+47040_136+47050dupTTTTTTTTTTT	GNAQ	ENSG00000156052.11	transcript	ENST00000286548.9	protein_coding	1/6			chr9	TogoVar
GNAT2_chr1_109598091_109624616	109607451	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02572.hp2 HG02886.hp2 others(2): Show HG01123.hp1 HG02572.hp2 HG02886.hp2 HG02896.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0020 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0001g0020 a0001c0001t0003g0077 a0001c0001t0003g0078	5	344	0.0145	11	c.462 others(28): Show c.462-1026_462-1016dupTTTTTTTTTTT	GNAT2	ENSG00000134183.13	transcript	ENST00000679935.1	protein_coding	5/8			chr1	TogoVar
GNAT2_chr1_109598091_109624616	109615620	A A	AAAAAAGA others(4): Show AAAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02647.hp1 HG03098.hp2 others(3): Show HG01884.hp1 HG02647.hp1 HG03098.hp2 NA18983.hp2 NA19075.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0001t0001 a0001c0001t0003 a0001c0002t0002	a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0003g0101 others(2): Show a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0003g0101 a0001c0002t0002g0037 a0001c0002t0002g0102	6	344	0.0174	11	c.-53 others(28): Show c.-53-2698_-53-2697insCTTTTCTTTTT	GNAT2	ENSG00000134183.13	transcript	ENST00000679935.1	protein_coding	1/8			chr1	TogoVar
GNB1L_chr22_19778223_19859874	19838161	A A	AATTTTTT others(4): Show AATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0077 a0002c0002t0004g0077	1	326	0.0031	11	c.-21 others(30): Show c.-21+16281_-21+16282insAAAAAAAAAAT	GNB1L	ENSG00000185838.14	transcript	ENST00000329517.11	protein_coding	2/7			chr22	TogoVar
GNB1L_chr22_19778223_19859874	19847803	G G	GAAAAAAA others(4): Show GAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0233 a0001c0001t0011g0233	1	326	0.0031	11	c.-21 others(28): Show c.-21+6639_-21+6640insTTTTTTTTTTT	GNB1L	ENSG00000185838.14	transcript	ENST00000329517.11	protein_coding	2/7			chr22	TogoVar
GNB1L_chr22_19778223_19859874	19847804	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02559.hp1 HG02897.hp2 others(2): Show HG01099.hp2 HG02559.hp1 HG02897.hp2 HG03130.hp1 HG03239.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0023 a0001c0001t0035 a0001c0001t0038 others(2): Show a0001c0001t0023 a0001c0001t0035 a0001c0001t0038 a0001c0001t0053 a0003c0003t0003	a0001c0001t0023g0028 a0001c0001t0035g0250 a0001c0001t0038g0025 others(2): Show a0001c0001t0023g0028 a0001c0001t0035g0250 a0001c0001t0038g0025 a0001c0001t0053g0027 a0003c0003t0003g0285	5	326	0.0153	11	c.-21 others(28): Show c.-21+6628_-21+6638dupTTTTTTTTTTT	GNB1L	ENSG00000185838.14	transcript	ENST00000329517.11	protein_coding	2/7			chr22	TogoVar
GNB1L_chr22_19778223_19859874	19859088	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01884.hp2 HG01891.hp1 others(12): Show HG01255.hp1 HG01884.hp2 HG01891.hp1 HG02109.hp2 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02647.hp2 HG02922.hp2 HG03041.hp2 HG03209.hp2 HG03453.hp1 NA18906.hp1 NA19240.hp1 NA20300.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0001c0008 a0009c0009 a0001c0001 a0001c0008 a0009c0009	a0001c0001t0001 a0001c0001t0015 a0001c0001t0019 others(7): Show a0001c0001t0001 a0001c0001t0015 a0001c0001t0019 a0001c0001t0029 a0001c0001t0035 a0001c0001t0042 a0001c0001t0044 a0001c0001t0046 a0001c0008t0012 a0009c0009t0011	a0001c0001t0001g0024 a0001c0001t0015g0006 a0001c0001t0019g0267 others(10): Show a0001c0001t0001g0024 a0001c0001t0015g0006 a0001c0001t0019g0267 a0001c0001t0029g0254 a0001c0001t0035g0250 a0001c0001t0042g0270 a0001c0001t0044g0253 a0001c0001t0046g0251 a0001c0008t0012g0268 a0001c0008t0012g0269 a0001c0008t0012g0272 a0009c0009t0011g0273 a0009c0009t0011g0274	15	326	0.0460	11	c.-43 others(22): Show c.-4387_-4386insAAAAAAAAAAA	GNB1L	ENSG00000185838.14	transcript	ENST00000329517.11	protein_coding		4215		chr22	TogoVar
GNB1_chr1_1780286_1896087	1864314	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01433.hp1 HG02109.hp1 others(8): Show HG00408.hp2 HG01433.hp1 HG02109.hp1 NA18944.hp2 NA18961.hp2 NA18974.hp1 NA19067.hp2 NA19074.hp1 NA19082.hp2 NA19085.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 a0001c0001t0001 a0001c0001t0003 a0001c0001t0015	a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0131 others(8): Show a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0131 a0001c0001t0001g0209 a0001c0001t0001g0224 a0001c0001t0001g0242 a0001c0001t0001g0266 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0003g0293 a0001c0001t0015g0258	11	336	0.0327	11	c.-95 others(30): Show c.-95-25087_-95-25077dupTTTTTTTTTTT	GNB1	ENSG00000078369.19	transcript	ENST00000378609.9	protein_coding	1/11			chr1	TogoVar
GNB5_chr15_52110100_52196392	52111171	A A	ACACACAC others(4): Show ACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0019 a0001c0001t0003g0019	1	366	0.0027	11	c.11 others(24): Show c.11585_*11586insGTGTGTGTGTG	GNB5	ENSG00000069966.19	transcript	ENST00000261837.12	protein_coding		3928		chr15	TogoVar
GNB5_chr15_52110100_52196392	52111173	A A	ACACACAC others(4): Show ACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0027 a0001c0001t0003g0027	1	366	0.0027	11	c.11 others(24): Show c.11583_*11584insGTGTGTGTGTG	GNB5	ENSG00000069966.19	transcript	ENST00000261837.12	protein_coding		3926		chr15	TogoVar
GNB5_chr15_52110100_52196392	52132636	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00609.hp1 HG01109.hp1 others(38): Show HG00323.hp2 HG00609.hp1 HG01109.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp1 HG01258.hp1 HG02027.hp2 HG02080.hp1 HG02109.hp1 HG02155.hp1 HG02258.hp2 HG02451.hp1 HG02572.hp1 HG02698.hp2 HG02895.hp2 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03490.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03688.hp1 HG03704.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18946.hp1 NA18951.hp1 NA18961.hp2 NA18970.hp1 NA18978.hp1 NA18984.hp1 NA18985.hp2 NA19002.hp2 NA19043.hp1 NA19060.hp1 NA19085.hp2 NA19240.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0005 others(1): Show a0001c0001 a0001c0004 a0001c0005 a0002c0007	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(33): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0043 a0001c0001t0044 a0001c0001t0048 a0001c0001t0056 a0001c0001t0060 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0086 a0001c0001t0090 a0001c0001t0091 a0001c0001t0093 a0001c0001t0151 a0001c0001t0152 a0001c0001t0153 a0001c0004t0014 a0001c0005t0157 a0002c0007t0039 a0002c0007t0081	a0001c0001t0001g0248 a0001c0001t0007g0139 a0001c0001t0007g0144 others(38): Show a0001c0001t0001g0248 a0001c0001t0007g0139 a0001c0001t0007g0144 a0001c0001t0007g0148 a0001c0001t0007g0153 a0001c0001t0007g0169 a0001c0001t0008g0152 a0001c0001t0043g0007 a0001c0001t0044g0156 a0001c0001t0048g0123 a0001c0001t0056g0130 a0001c0001t0060g0122 a0001c0001t0064g0155 a0001c0001t0065g0079 a0001c0001t0066g0164 a0001c0001t0067g0109 a0001c0001t0068g0111 a0001c0001t0069g0105 a0001c0001t0070g0157 a0001c0001t0071g0107 a0001c0001t0072g0108 a0001c0001t0076g0168 a0001c0001t0077g0159 a0001c0001t0078g0086 a0001c0001t0079g0138 a0001c0001t0080g0147 a0001c0001t0082g0154 a0001c0001t0083g0141 a0001c0001t0084g0117 a0001c0001t0086g0161 a0001c0001t0090g0104 a0001c0001t0091g0149 a0001c0001t0093g0106 a0001c0001t0151g0353 a0001c0001t0152g0243 a0001c0001t0153g0244 a0001c0004t0014g0280 a0001c0004t0014g0290 a0001c0005t0157g0278 a0002c0007t0039g0150 a0002c0007t0081g0175	41	366	0.1120	11	c.863 others(26): Show c.863+731_863+741dupAAAAAAAAAAA	GNB5	ENSG00000069966.19	transcript	ENST00000261837.12	protein_coding	9/12			chr15	TogoVar
GNB5_chr15_52110100_52196392	52136113	A A	ACACACAC others(4): Show ACACACACACAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0021 a0001c0003t0021	a0001c0003t0021g0355 a0001c0003t0021g0355	1	366	0.0027	11	c.628 others(26): Show c.628-358_628-357insGTGTGTGTGTG	GNB5	ENSG00000069966.19	transcript	ENST00000261837.12	protein_coding	7/12			chr15	TogoVar
GNB5_chr15_52110100_52196392	52136172	A A	ACACACAC others(4): Show ACACACACACAC	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02148.hp1 HG02258.hp2 others(7): Show HG02015.hp2 HG02148.hp1 HG02258.hp2 HG02572.hp1 HG02572.hp2 HG02897.hp2 HG03669.hp1 HG04228.hp2 NA18946.hp1 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0008 a0001c0001t0018 others(7): Show a0001c0001t0007 a0001c0001t0008 a0001c0001t0018 a0001c0001t0027 a0001c0001t0043 a0001c0001t0049 a0001c0001t0058 a0001c0001t0064 a0001c0001t0069 a0001c0001t0073	a0001c0001t0007g0144 a0001c0001t0008g0176 a0001c0001t0018g0133 others(7): Show a0001c0001t0007g0144 a0001c0001t0008g0176 a0001c0001t0018g0133 a0001c0001t0027g0307 a0001c0001t0043g0007 a0001c0001t0049g0101 a0001c0001t0058g0098 a0001c0001t0064g0155 a0001c0001t0069g0105 a0001c0001t0073g0166	10	366	0.0273	11	c.628 others(26): Show c.628-417_628-416insGTGTGTGTGTG	GNB5	ENSG00000069966.19	transcript	ENST00000261837.12	protein_coding	7/12			chr15	TogoVar
GNE_chr9_36209441_36263448	36251986	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0093 a0001c0001t0093	a0001c0001t0093g0290 a0001c0001t0093g0290	1	374	0.0027	11	c.-42 others(28): Show c.-42-2600_-42-2590dupAAAAAAAAAAA	GNE	ENSG00000159921.20	transcript	ENST00000642385.2	protein_coding	1/11			chr9	TogoVar
GNE_chr9_36209441_36263448	36257802	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0219 a0001c0001t0031g0219	1	374	0.0027	11	c.-43 others(26): Show c.-43+508_-43+518dupTTTTTTTTTTT	GNE	ENSG00000159921.20	transcript	ENST00000642385.2	protein_coding	1/11			chr9	TogoVar
GNE_chr9_36209441_36281978	36251986	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0092 a0001c0001t0092	a0001c0001t0092g0354 a0001c0001t0092g0354	1	356	0.0028	11	c.52- others(26): Show c.52-2600_52-2590dupAAAAAAAAAAA	GNE	ENSG00000159921.20	transcript	ENST00000396594.8	protein_coding	1/11			chr9	TogoVar
GNE_chr9_36209441_36281978	36257802	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0091 a0001c0001t0029g0091	1	356	0.0028	11	c.52- others(26): Show c.52-8416_52-8406dupTTTTTTTTTTT	GNE	ENSG00000159921.20	transcript	ENST00000396594.8	protein_coding	1/11			chr9	TogoVar
GNE_chr9_36209441_36281978	36277354	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00738.hp1 others(27): Show HG00099.hp2 HG00280.hp1 HG00738.hp1 HG00741.hp1 HG01099.hp1 HG01167.hp2 HG01175.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG01496.hp1 HG01516.hp1 HG01943.hp1 HG01975.hp1 HG02135.hp2 HG02897.hp2 HG03225.hp2 HG03239.hp1 HG03471.hp2 HG03490.hp2 HG03927.hp1 HG04204.hp1 NA18944.hp1 NA18952.hp2 NA18959.hp2 NA18981.hp1 NA19011.hp1 NA19079.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(11): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0022 a0001c0001t0028 a0001c0001t0065 a0001c0001t0068 a0001c0001t0069 a0001c0001t0090 a0001c0001t0097 a0001c0001t0099	a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0007g0140 others(27): Show a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0007g0140 a0001c0001t0007g0142 a0001c0001t0007g0161 a0001c0001t0007g0168 a0001c0001t0007g0170 a0001c0001t0007g0174 a0001c0001t0007g0176 a0001c0001t0007g0178 a0001c0001t0008g0146 a0001c0001t0008g0157 a0001c0001t0008g0169 a0001c0001t0008g0175 a0001c0001t0008g0177 a0001c0001t0012g0003 a0001c0001t0012g0004 a0001c0001t0015g0150 a0001c0001t0015g0172 a0001c0001t0016g0155 a0001c0001t0016g0165 a0001c0001t0022g0148 a0001c0001t0022g0164 a0001c0001t0028g0179 a0001c0001t0065g0151 a0001c0001t0068g0173 a0001c0001t0069g0156 a0001c0001t0090g0149 a0001c0001t0097g0013 a0001c0001t0099g0012	30	356	0.0843	11	c.-42 others(20): Show c.-421_-411dupAAAAAAAAAAA	GNE	ENSG00000159921.20	transcript	ENST00000396594.8	protein_coding		377		chr9	TogoVar
GNE_chr9_36209441_36281978	36277385	T T	TTTTTTTT others(4): Show TTTTTTTTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02647.hp1 HG02572.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0091 a0001c0001t0093 a0001c0001t0091 a0001c0001t0093	a0001c0001t0091g0355 a0001c0001t0093g0353 a0001c0001t0091g0355 a0001c0001t0093g0353	2	356	0.0056	11	c.-44 others(20): Show c.-442_-441insCAAAAAAAAAA	GNE	ENSG00000159921.20	transcript	ENST00000396594.8	protein_coding		408		chr9	TogoVar
GNG10_chr9_111656605_111675226	111660960	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG02135.hp1 HG02258.hp1 others(6): Show HG01123.hp2 HG02135.hp1 HG02258.hp1 HG03516.hp1 HG03540.hp1 NA18944.hp1 NA19007.hp1 NA19083.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0013 a0001c0001t0001g0087 a0001c0001t0002g0005 others(1): Show a0001c0001t0001g0013 a0001c0001t0001g0087 a0001c0001t0002g0005 a0001c0001t0002g0008	9	430	0.0209	11	c.-67 others(20): Show c.-675_-674insAAAAAAAAAAA	GNG10	ENSG00000242616.4	transcript	ENST00000374293.5	protein_coding		644		chr9	TogoVar
GNG11_chr7_93916735_93933610	93930221	C C	CCTTTCTT others(4): Show CCTTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG03688.hp2 NA18945.hp1 HG00621.hp2 HG03688.hp2 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0003 a0001c0001t0002g0029 a0001c0001t0005g0005 a0001c0001t0002g0003 a0001c0001t0002g0029 a0001c0001t0005g0005	3	438	0.0069	11	c.40 others(22): Show c.4005_*4006insCTTTCTTTCTT	GNG11	ENSG00000127920.6	transcript	ENST00000248564.6	protein_coding		1612		chr7	TogoVar
GNG2_chr14_51855612_51974795	51875947	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00735.hp2 HG01074.hp2 others(33): Show HG00140.hp2 HG00735.hp2 HG01074.hp2 HG01081.hp2 HG01106.hp2 HG01175.hp2 HG01261.hp1 HG01361.hp2 HG01496.hp2 HG02145.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02615.hp2 HG02622.hp2 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19240.hp1 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0031 a0001c0001t0037 a0001c0001t0041 a0001c0001t0042 a0001c0001t0044 a0001c0001t0046 a0001c0001t0064 a0001c0001t0068 a0001c0001t0070 a0001c0002t0074	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0293 others(33): Show a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0298 a0001c0001t0002g0329 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0323 a0001c0001t0004g0199 a0001c0001t0004g0328 a0001c0001t0004g0372 a0001c0001t0006g0345 a0001c0001t0007g0322 a0001c0001t0008g0004 a0001c0001t0008g0312 a0001c0001t0012g0196 a0001c0001t0012g0327 a0001c0001t0014g0311 a0001c0001t0017g0005 a0001c0001t0017g0354 a0001c0001t0018g0047 a0001c0001t0019g0325 a0001c0001t0019g0326 a0001c0001t0019g0369 a0001c0001t0020g0051 a0001c0001t0031g0071 a0001c0001t0037g0053 a0001c0001t0041g0337 a0001c0001t0042g0336 a0001c0001t0044g0338 a0001c0001t0046g0292 a0001c0001t0064g0003 a0001c0001t0068g0065 a0001c0001t0070g0211 a0001c0002t0074g0008	36	380	0.0947	11	c.-70 others(28): Show c.-70-1664_-70-1663insTTTTTTTTTTT	GNG2	ENSG00000186469.9	transcript	ENST00000556766.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr14	TogoVar
GNG2_chr14_51855612_51974795	51906757	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00735.hp2 HG01081.hp2 others(37): Show HG00140.hp2 HG00735.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01175.hp1 HG01243.hp1 HG01496.hp2 HG01891.hp2 HG02280.hp1 HG02451.hp1 HG02559.hp1 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02896.hp1 HG02922.hp1 HG02976.hp1 HG03041.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03491.hp2 HG03492.hp2 HG03669.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18946.hp2 NA18960.hp2 NA19001.hp1 NA19030.hp1 NA19043.hp2 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0023 a0001c0001t0027 a0001c0001t0031 a0001c0001t0035 a0001c0001t0037 a0001c0001t0046 a0001c0001t0055 a0001c0001t0064 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0100 others(37): Show a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0100 a0001c0001t0001g0112 a0001c0001t0001g0214 a0001c0001t0001g0294 a0001c0001t0001g0330 a0001c0001t0002g0060 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0323 a0001c0001t0004g0041 a0001c0001t0004g0043 a0001c0001t0004g0199 a0001c0001t0004g0328 a0001c0001t0004g0372 a0001c0001t0007g0169 a0001c0001t0007g0322 a0001c0001t0008g0004 a0001c0001t0008g0033 a0001c0001t0008g0042 a0001c0001t0008g0205 a0001c0001t0012g0196 a0001c0001t0014g0311 a0001c0001t0015g0050 a0001c0001t0017g0045 a0001c0001t0018g0047 a0001c0001t0020g0051 a0001c0001t0023g0095 a0001c0001t0027g0093 a0001c0001t0027g0094 a0001c0001t0031g0131 a0001c0001t0035g0379 a0001c0001t0037g0053 a0001c0001t0046g0292 a0001c0001t0055g0204 a0001c0001t0064g0003 a0001c0001t0068g0065 a0001c0001t0069g0324 a0001c0001t0070g0211	40	380	0.1053	11	c.-30 others(30): Show c.-30+29106_-30+29116dupTTTTTTTTTTT	GNG2	ENSG00000186469.9	transcript	ENST00000556766.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr14	TogoVar
GNG2_chr14_51855612_51974795	51908736	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00735.hp1 HG01496.hp1 others(16): Show HG00438.hp1 HG00735.hp1 HG01496.hp1 HG02055.hp1 HG02074.hp2 HG02886.hp2 HG03041.hp1 NA18964.hp1 NA18967.hp2 NA18974.hp1 NA18975.hp1 NA18984.hp1 NA18990.hp1 NA19057.hp1 NA19077.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0020 a0001c0001t0026 a0001c0001t0028 a0001c0001t0030 a0001c0001t0032 a0001c0001t0034	a0001c0001t0001g0034 a0001c0001t0001g0281 a0001c0001t0001g0321 others(16): Show a0001c0001t0001g0034 a0001c0001t0001g0281 a0001c0001t0001g0321 a0001c0001t0002g0078 a0001c0001t0002g0240 a0001c0001t0002g0368 a0001c0001t0003g0376 a0001c0001t0003g0377 a0001c0001t0005g0079 a0001c0001t0010g0319 a0001c0001t0011g0191 a0001c0001t0014g0087 a0001c0001t0020g0375 a0001c0001t0026g0098 a0001c0001t0028g0105 a0001c0001t0028g0181 a0001c0001t0030g0115 a0001c0001t0032g0113 a0001c0001t0034g0365	19	380	0.0500	11	c.-30 others(30): Show c.-30+31092_-30+31102dupTTTTTTTTTTT	GNG2	ENSG00000186469.9	transcript	ENST00000556766.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr14	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)