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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
EIF2AK4_chr15_39929115_40040591	40037279	G G	GGGAAAAA others(7): Show GGGAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0100 a0003c0003t0002g0100	1	368	0.0027	14	c.21 others(25): Show c.2195_*2196insGGAAAAAAAAAAAA	EIF2AK4	ENSG00000128829.12	transcript	ENST00000263791.10	protein_coding		1689		chr15	TogoVar
EIF2A_chr3_150541787_150591016	150590741	G G	GTATATGT others(7): Show GTATATGTATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02055.hp1 HG02258.hp2 HG01891.hp2 HG02055.hp1 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0005 a0001c0001t0006g0182 a0001c0001t0006g0005 a0001c0001t0006g0182	3	394	0.0076	14	c.68 others(25): Show c.6830_*6831insTATATGTATATATA	EIF2A	ENSG00000144895.12	transcript	ENST00000460851.6	protein_coding		4726		chr3	TogoVar
EIF2A_chr3_150541787_150591016	150590743	G G	GTATATAT others(7): Show GTATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG03516.hp2 HG04204.hp2 others(1): Show HG02258.hp1 HG03516.hp2 HG04204.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0004 a0001c0003t0002 a0001c0003t0004	a0001c0003t0002g0010 a0001c0003t0002g0155 a0001c0003t0004g0008 a0001c0003t0002g0010 a0001c0003t0002g0155 a0001c0003t0004g0008	4	394	0.0102	14	c.68 others(25): Show c.6832_*6833insTATATATATATATA	EIF2A	ENSG00000144895.12	transcript	ENST00000460851.6	protein_coding		4728		chr3	TogoVar
EIF2B1_chr12_123615406_123638686	123620580	T T	TTATATAT others(7): Show TTATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00735.hp1 HG02735.hp1 HG00735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0065 a0001c0001t0055 a0001c0001t0065	a0001c0001t0055g0121 a0001c0001t0065g0068 a0001c0001t0055g0121 a0001c0001t0065g0068	2	322	0.0062	14	c.11 others(25): Show c.1162_*1175dupTATATATATATATA	EIF2B1	ENSG00000111361.13	transcript	ENST00000424014.7	protein_coding	9/9	1175		chr12	TogoVar
EIF2B2_chr14_74997921_75017366	75004689	A A	ATATATTT others(7): Show ATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG03491.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	2	326	0.0061	14	c.434 others(27): Show c.434-47_434-46insATATTTTTTTTTTT	EIF2B2	ENSG00000119718.11	transcript	ENST00000266126.10	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
EIF2B3_chr1_44845522_44991595	44919883	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01261.hp1 HG01346.hp1 others(22): Show HG01081.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01516.hp1 HG01517.hp1 HG01993.hp1 HG02071.hp2 HG02083.hp2 HG02132.hp1 HG02148.hp1 HG02273.hp1 HG02647.hp1 HG03710.hp1 NA18950.hp2 NA18954.hp1 NA18956.hp1 NA18957.hp1 NA19011.hp2 NA19063.hp1 NA19082.hp2 NA19084.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0270 others(22): Show a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0279 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0299 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317	25	322	0.0776	14	c.566 others(31): Show c.566+6731_566+6744dupAAAAAAAAAAAAAA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	5/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44922836	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	322	0.0031	14	c.566 others(31): Show c.566+3778_566+3791dupAAAAAAAAAAAAAA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	5/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44942377	T T	TTATATAT others(7): Show TTATATATATATATA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0110	1	322	0.0031	14	c.295 others(29): Show c.295-726_295-713dupTATATATATATATA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44942417	A A	ATATATAT others(7): Show ATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	322	0.0031	14	c.295 others(29): Show c.295-753_295-752insAATATATATATATA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44942417	A A	ATATATAT others(7): Show ATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0124 a0001c0001t0002g0124	1	322	0.0031	14	c.295 others(29): Show c.295-753_295-752insAAAATATATATATA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44942417	A A	ATATATAT others(7): Show ATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0185 a0001c0002t0001g0185	1	322	0.0031	14	c.295 others(29): Show c.295-753_295-752insAAAAAATATATATA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44942417	A A	ATATATAT others(7): Show ATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	322	0.0031	14	c.295 others(29): Show c.295-753_295-752insAAAAAAAATATATA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44942417	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0207 a0001c0002t0001g0207	1	322	0.0031	14	c.295 others(29): Show c.295-766_295-753dupAAAAAAAAAAAAAA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44951954	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00639.hp2 HG01433.hp1 others(21): Show HG00621.hp2 HG00639.hp2 HG01433.hp1 HG01891.hp1 HG01943.hp2 HG02129.hp2 HG02148.hp2 HG02647.hp2 HG02698.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp2 HG03942.hp2 NA18612.hp1 NA18906.hp2 NA18947.hp2 NA18966.hp1 NA18975.hp1 NA18975.hp2 NA18981.hp2 NA19000.hp1 NA19001.hp1 NA19087.hp2 NA19091.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0004 a0001c0001 a0001c0002 a0005c0004	a0001c0001t0002 a0001c0002t0001 a0005c0004t0002 a0001c0001t0002 a0001c0002t0001 a0005c0004t0002	a0001c0001t0002g0098 a0001c0001t0002g0105 a0001c0001t0002g0107 others(21): Show a0001c0001t0002g0098 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0118 a0001c0001t0002g0126 a0001c0002t0001g0141 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0151 a0001c0002t0001g0163 a0001c0002t0001g0167 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0187 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0210 a0001c0002t0001g0212 a0001c0002t0001g0217 a0001c0002t0001g0220 a0005c0004t0002g0058	24	322	0.0745	14	c.295 others(33): Show c.295-10303_295-10290dupAAAAAAAAAAAAAA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44984797	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG06807.hp1 NA19085.hp2 HG03225.hp2 HG06807.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0002g0097 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0002g0097	3	322	0.0093	14	c.-10 others(31): Show c.-10+1682_-10+1695dupAAAAAAAAAAAAAA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	1/11			chr1	TogoVar
EIF2D_chr1_206586642_206617465	206593506	A A	AGTGTGTG others(7): Show AGTGTGTGTGCGTGT	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	426	0.0024	14	c.168 others(31): Show c.1684+112_1684+113insACACGCACACACAC	EIF2D	ENSG00000143486.16	transcript	ENST00000271764.7	protein_coding	14/14			chr1	TogoVar
EIF2D_chr1_206586642_206617465	206593506	A A	AGTGTGTG others(7): Show AGTGTGTGTGTGCGT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02083.hp1 HG02615.hp1 others(14): Show HG01358.hp2 HG02083.hp1 HG02615.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG03540.hp1 NA18906.hp1 NA18973.hp1 NA18977.hp2 NA18986.hp1 NA18995.hp1 NA19065.hp1 NA19066.hp2 NA19240.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0023 a0001c0001t0001g0035 a0001c0001t0001g0117 others(7): Show a0001c0001t0001g0023 a0001c0001t0001g0035 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0138 a0001c0001t0001g0197 a0002c0002t0001g0016 a0002c0002t0001g0034 a0002c0002t0001g0115 a0002c0002t0001g0116	17	426	0.0399	14	c.168 others(31): Show c.1684+112_1684+113insACGCACACACACAC	EIF2D	ENSG00000143486.16	transcript	ENST00000271764.7	protein_coding	14/14			chr1	TogoVar
EIF2D_chr1_206586642_206617465	206593508	A A	AGAGAGTG others(7): Show AGAGAGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02895.hp2 HG02622.hp1 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	2	426	0.0047	14	c.168 others(31): Show c.1684+110_1684+111insACACACACACTCTC	EIF2D	ENSG00000143486.16	transcript	ENST00000271764.7	protein_coding	14/14			chr1	TogoVar
EIF2D_chr1_206586642_206617465	206593508	A A	AGTGTGTG others(7): Show AGTGTGTGTGTGCGT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02886.hp1 NA19043.hp1 others(1): Show HG01993.hp2 HG02886.hp1 NA19043.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0091 a0001c0001t0001g0188 a0001c0001t0001g0039 a0001c0001t0001g0091 a0001c0001t0001g0188	4	426	0.0094	14	c.168 others(31): Show c.1684+110_1684+111insACGCACACACACAC	EIF2D	ENSG00000143486.16	transcript	ENST00000271764.7	protein_coding	14/14			chr1	TogoVar
EIF2D_chr1_206586642_206617465	206593508	A A	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	426	0.0024	14	c.168 others(30): Show c.1684+97_1684+110dupACACACACACACAC	EIF2D	ENSG00000143486.16	transcript	ENST00000271764.7	protein_coding	14/14			chr1	TogoVar
EIF2S1_chr14_67355328_67391516	67373842	A A	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0166 a0001c0001t0003g0166	1	368	0.0027	14	c.242 others(29): Show c.242-607_242-594dupGTGTGTGTGTGTGT	EIF2S1	ENSG00000134001.15	transcript	ENST00000256383.11	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
EIF2S1_chr14_67355328_67391516	67391269	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02280.hp1 HG02559.hp1 HG02257.hp1 HG02280.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0019 a0001c0001t0020 a0001c0001t0003 a0001c0001t0019 a0001c0001t0020	a0001c0001t0003g0022 a0001c0001t0019g0022 a0001c0001t0020g0169 a0001c0001t0003g0022 a0001c0001t0019g0022 a0001c0001t0020g0169	3	368	0.0082	14	c.78 others(25): Show c.7829_*7830insTGTGTGTGTGTGTG	EIF2S1	ENSG00000134001.15	transcript	ENST00000256383.11	protein_coding		4754		chr14	TogoVar
EIF2S1_chr14_67355328_67391516	67391271	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01884.hp2 HG01934.hp2 others(5): Show HG01123.hp1 HG01884.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01978.hp2 HG02040.hp2 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0032 a0001c0001t0007 a0001c0001t0032	a0001c0001t0007g0039 a0001c0001t0007g0157 a0001c0001t0007g0159 others(4): Show a0001c0001t0007g0039 a0001c0001t0007g0157 a0001c0001t0007g0159 a0001c0001t0007g0160 a0001c0001t0007g0161 a0001c0001t0007g0172 a0001c0001t0032g0170	8	368	0.0217	14	c.78 others(25): Show c.7831_*7832insTGTGTGTGTGTGTG	EIF2S1	ENSG00000134001.15	transcript	ENST00000256383.11	protein_coding		4756		chr14	TogoVar
EIF2S3B_chr12_10500890_10513525	10504330	T T	TATATATA others(7): Show TATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01099.hp1 HG01255.hp1 others(44): Show HG01069.hp1 HG01099.hp1 HG01255.hp1 HG01261.hp1 HG01496.hp1 HG01981.hp2 HG02015.hp1 HG02056.hp1 HG02080.hp2 HG02132.hp1 HG02135.hp1 HG02148.hp2 HG02698.hp1 HG02717.hp1 HG03471.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18949.hp1 NA18951.hp2 NA18954.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18973.hp2 NA18975.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp2 NA18993.hp1 NA19000.hp1 NA19002.hp2 NA19005.hp2 NA19055.hp1 NA19055.hp2 NA19058.hp2 NA19062.hp1 NA19065.hp2 NA19072.hp1 NA19072.hp2 NA19076.hp2 NA19081.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0012 a0001c0001t0001 a0001c0001t0009 a0001c0001t0012	a0001c0001t0001g0000 a0001c0001t0009g0000 a0001c0001t0012g0000 a0001c0001t0001g0000 a0001c0001t0009g0000 a0001c0001t0012g0000	47	422	0.1114	14	c.-15 others(25): Show c.-1573_-1572insATATATATATATAC	EIF2S3B	ENSG00000180574.4	transcript	ENST00000538173.2	protein_coding		1559		chr12	TogoVar
EIF2S3_chrX_24049956_24083810	24081938	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00609.hp1 HG00735.hp1 others(23): Show HG00544.hp1 HG00609.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01099.hp1 HG01106.hp1 HG01361.hp1 HG01496.hp1 HG01981.hp2 HG02074.hp1 HG02300.hp1 HG02486.hp1 HG02970.hp2 HG03927.hp2 NA18970.hp1 NA18978.hp2 NA18984.hp1 NA19007.hp1 NA19012.hp1 NA19030.hp2 NA19055.hp1 NA19062.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0006 a0001c0002t0008 others(1): Show a0001c0002t0001 a0001c0002t0006 a0001c0002t0008 a0001c0002t0010	a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0005 others(18): Show a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0005 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0025 a0001c0002t0001g0128 a0001c0002t0001g0139 a0001c0002t0001g0142 a0001c0002t0001g0145 a0001c0002t0001g0149 a0001c0002t0001g0169 a0001c0002t0001g0173 a0001c0002t0001g0196 a0001c0002t0006g0174 a0001c0002t0008g0153 a0001c0002t0008g0180 a0001c0002t0008g0194 a0001c0002t0010g0157	26	294	0.0884	14	c.51 others(25): Show c.5153_*5154insAAAAAAAAAAAAAA	EIF2S3	ENSG00000130741.11	transcript	ENST00000253039.9	protein_coding		3129		chrX	TogoVar
EIF3A_chr10_119028670_119085817	119052368	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA19088.hp1 NA20300.hp1 HG02145.hp2 NA19088.hp1 NA20300.hp1	a0001 a0007 a0001 a0007	a0001c0002 a0007c0010 a0001c0002 a0007c0010	a0001c0002t0003 a0001c0002t0004 a0007c0010t0007 a0001c0002t0003 a0001c0002t0004 a0007c0010t0007	a0001c0002t0003g0030 a0001c0002t0004g0285 a0007c0010t0007g0034 a0001c0002t0003g0030 a0001c0002t0004g0285 a0007c0010t0007g0034	3	350	0.0086	14	c.219 others(33): Show c.2197-1061_2197-1048dupCACACACACACACA	EIF3A	ENSG00000107581.14	transcript	ENST00000369144.8	protein_coding	14/21			chr10	TogoVar
EIF3CL_chr16_28374715_28408841	28386838	G G	GAGACACA others(7): Show GAGACACACACACAC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	172	0.0058	14	c.182 others(33): Show c.1821+1219_1821+1220insGTGTGTGTGTGTCT	EIF3CL	ENSG00000205609.13	transcript	ENST00000380876.5	protein_coding	15/20			chr16	TogoVar
EIF3CL_chr16_28374715_28408841	28404382	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG03927.hp1 NA18522.hp2 others(1): Show HG02451.hp2 HG03927.hp1 NA18522.hp2 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0012 a0003c0003 a0001c0012 a0003c0003	a0001c0012t0002 a0003c0003t0002 a0001c0012t0002 a0003c0003t0002	a0001c0012t0002g0009 a0003c0003t0002g0010 a0003c0003t0002g0012 others(1): Show a0001c0012t0002g0009 a0003c0003t0002g0010 a0003c0003t0002g0012 a0003c0003t0002g0016	4	172	0.0233	14	c.-62 others(23): Show c.-627_-626insTTTTTTTTTTTTTT	EIF3CL	ENSG00000205609.13	transcript	ENST00000380876.5	protein_coding		542		chr16	TogoVar
EIF3E_chr8_108196216_108253717	108197482	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG02615.hp1 HG01167.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0020 a0001c0001t0011 a0001c0001t0020	a0001c0001t0011g0026 a0001c0001t0020g0025 a0001c0001t0011g0026 a0001c0001t0020g0025	2	348	0.0058	14	c.43 others(25): Show c.4389_*4402dupTTTTTTTTTTTTTT	EIF3E	ENSG00000104408.11	transcript	ENST00000220849.10	protein_coding		3733		chr8	TogoVar
EIF3E_chr8_108196216_108253717	108201250	C C	CATATATA others(7): Show CATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0299 a0001c0001t0026g0299	1	348	0.0029	14	c.62 others(23): Show c.621_*634dupATATATATATATAT	EIF3E	ENSG00000104408.11	transcript	ENST00000220849.10	protein_coding	13/13	634		chr8	TogoVar
EIF3E_chr8_108196216_108253717	108204731	G G	GTATATAT others(7): Show GTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02040.hp2 NA19007.hp2 others(2): Show HG01192.hp1 HG02040.hp2 NA19007.hp2 NA19010.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0022 a0001c0001t0002 a0001c0001t0008 a0001c0001t0022	a0001c0001t0002g0118 a0001c0001t0002g0122 a0001c0001t0002g0155 others(2): Show a0001c0001t0002g0118 a0001c0001t0002g0122 a0001c0001t0002g0155 a0001c0001t0008g0135 a0001c0001t0022g0075	5	348	0.0144	14	c.106 others(33): Show c.1062-1242_1062-1229dupTATATATATATATA	EIF3E	ENSG00000104408.11	transcript	ENST00000220849.10	protein_coding	10/12			chr8	TogoVar
EIF3E_chr8_108196216_108253717	108204746	T T	TATATAGA others(7): Show TATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0056	1	348	0.0029	14	c.106 others(33): Show c.1062-1244_1062-1243insCTCTCTCTCTATAT	EIF3E	ENSG00000104408.11	transcript	ENST00000220849.10	protein_coding	10/12			chr8	TogoVar
EIF3E_chr8_108196216_108253717	108204746	T T	TATATATA others(7): Show TATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0199 a0001c0001t0002g0199	1	348	0.0029	14	c.106 others(33): Show c.1062-1244_1062-1243insCTCTCTCTATATAT	EIF3E	ENSG00000104408.11	transcript	ENST00000220849.10	protein_coding	10/12			chr8	TogoVar
EIF3E_chr8_108196216_108253717	108204746	T T	TATATATA others(7): Show TATATATATATAGAG	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0082	1	348	0.0029	14	c.106 others(33): Show c.1062-1244_1062-1243insCTCTATATATATAT	EIF3E	ENSG00000104408.11	transcript	ENST00000220849.10	protein_coding	10/12			chr8	TogoVar
EIF3E_chr8_108196216_108253717	108204746	T T	TATATATA others(7): Show TATATATATATATAG	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0166 a0001c0001t0002g0166	1	348	0.0029	14	c.106 others(33): Show c.1062-1244_1062-1243insCTATATATATATAT	EIF3E	ENSG00000104408.11	transcript	ENST00000220849.10	protein_coding	10/12			chr8	TogoVar
EIF3G_chr19_10110014_10124899	10122524	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02486.hp2 HG03041.hp1 HG02055.hp2 HG02486.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	3	458	0.0066	14	c.-26 others(25): Show c.-2666_-2665insTTTTTTTTTTTTTT	EIF3G	ENSG00000130811.12	transcript	ENST00000253108.9	protein_coding		2626		chr19	TogoVar
EIF3H_chr8_116637130_116760823	116653348	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01099.hp2 HG01261.hp1 others(11): Show HG01069.hp1 HG01099.hp2 HG01261.hp1 HG02109.hp2 HG02602.hp2 HG02717.hp2 HG02809.hp1 HG02818.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp1 HG02976.hp1 HG03098.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0001 a0001c0001t0005 a0001c0001t0007	a0001c0001t0001g0110 a0001c0001t0001g0117 a0001c0001t0001g0143 others(10): Show a0001c0001t0001g0110 a0001c0001t0001g0117 a0001c0001t0001g0143 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0005g0223 a0001c0001t0007g0001 a0001c0001t0007g0314 a0001c0001t0007g0317 a0001c0001t0007g0318 a0001c0001t0007g0321 a0001c0001t0007g0326	14	336	0.0417	14	c.707 others(31): Show c.707+2494_707+2507dupGTGTGTGTGTGTGT	EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	5/7			chr8	TogoVar
EIF3H_chr8_116637130_116760823	116731828	C C	CCATGAAT others(7): Show CCATGAATTATGCCT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0181 a0001c0001t0004g0181	1	336	0.0030	14	c.133 others(31): Show c.133-5670_133-5657dupAGGCATAATTCATG	EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	1/7			chr8	TogoVar
EIF3H_chr8_116637130_116760823	116752665	G G	GAAGAAAG others(7): Show GAAGAAAGAAAAAGA	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0328 a0001c0001t0002g0328	1	336	0.0030	14	c.132 others(31): Show c.132+3000_132+3001insTCTTTTTCTTTCTT	EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	1/7			chr8	TogoVar
EIF3K_chr19_38614188_38641954	38637325	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00621.hp2 HG01069.hp1 others(33): Show HG00558.hp1 HG00621.hp2 HG01069.hp1 HG01952.hp1 HG02015.hp1 HG02040.hp2 HG02071.hp2 HG02132.hp1 HG02735.hp2 HG02738.hp2 HG03516.hp1 HG03669.hp2 HG03831.hp1 HG04184.hp2 HG04228.hp2 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18946.hp2 NA18954.hp1 NA18955.hp1 NA18970.hp1 NA18982.hp2 NA18986.hp2 NA18988.hp1 NA18991.hp1 NA18993.hp1 NA19003.hp2 NA19010.hp2 NA19011.hp2 NA19070.hp1 NA19079.hp2 NA19083.hp2 NA19084.hp2 NA19087.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 others(26): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0160 a0001c0001t0001g0165 a0001c0001t0001g0180 a0001c0001t0001g0209 a0001c0001t0001g0223	36	400	0.0900	14	c.40 others(23): Show c.405_*406insTTTTTTTTTTTTTT	EIF3K	ENSG00000178982.10	transcript	ENST00000248342.9	protein_coding		372		chr19	TogoVar
EIF3L_chr22_37844419_37894407	37859374	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG04228.hp2 NA18951.hp2 HG02970.hp2 HG04228.hp2 NA18951.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0002t0004 a0001c0003t0002 a0001c0002t0001 a0001c0002t0004 a0001c0003t0002	a0001c0002t0001g0079 a0001c0002t0004g0108 a0001c0003t0002g0033 a0001c0002t0001g0079 a0001c0002t0004g0108 a0001c0003t0002g0033	3	318	0.0094	14	c.435 others(29): Show c.435+642_435+655dupTTTTTTTTTTTTTT	EIF3L	ENSG00000100129.18	transcript	ENST00000652021.1	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
EIF3L_chr22_37844419_37894407	37868634	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG04228.hp2 HG01993.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0246 a0001c0002t0001g0079 a0001c0001t0001g0246 a0001c0002t0001g0079	2	318	0.0063	14	c.580 others(31): Show c.580-1530_580-1517dupTTTTTTTTTTTTTT	EIF3L	ENSG00000100129.18	transcript	ENST00000652021.1	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
EIF3M_chr11_32578831_32611264	32581434	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 NA19060.hp1 HG01167.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0020 a0001c0001t0005 a0001c0001t0020	a0001c0001t0005g0102 a0001c0001t0020g0007 a0001c0001t0005g0102 a0001c0001t0020g0007	2	344	0.0058	14	c.-24 others(25): Show c.-2454_-2453insGTGTGTGTGTGTGT	EIF3M	ENSG00000149100.13	transcript	ENST00000531120.6	protein_coding		2396		chr11	TogoVar
EIF4A1_chr17_7567825_7584006	7569384	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp1 NA18979.hp2 NA19063.hp1 others(4): Show HG02080.hp1 NA18979.hp2 NA19063.hp1 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA19090.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0004 a0001c0003t0002 a0001c0003t0004	a0001c0003t0002g0003 a0001c0003t0004g0003 a0001c0003t0002g0003 a0001c0003t0004g0003	7	436	0.0161	14	c.-34 others(25): Show c.-3458_-3457insAAAAAAAAAAAAAA	EIF4A1	ENSG00000161960.16	transcript	ENST00000293831.13	protein_coding		3440		chr17	TogoVar
EIF4A1_chr17_7567825_7584006	7569396	A A	AAAAAAAA others(7): Show AAAAAAAAAAAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	436	0.0023	14	c.-34 others(25): Show c.-3446_-3445insAAAAAAAAAAAAAG	EIF4A1	ENSG00000161960.16	transcript	ENST00000293831.13	protein_coding		3428		chr17	TogoVar
EIF4A3_chr17_80129369_80152128	80148858	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG01515.hp1 HG02572.hp1 others(5): Show HG01123.hp1 HG01515.hp1 HG02572.hp1 HG02630.hp1 HG03491.hp1 NA18966.hp1 NA18974.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(4): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0001t0071 a0001c0002t0007 a0001c0002t0059	a0001c0001t0002g0128 a0001c0001t0005g0022 a0001c0001t0006g0058 others(4): Show a0001c0001t0002g0128 a0001c0001t0005g0022 a0001c0001t0006g0058 a0001c0001t0012g0093 a0001c0001t0071g0208 a0001c0002t0007g0001 a0001c0002t0059g0174	8	420	0.0191	14	c.-18 others(25): Show c.-1898_-1897insCACACACACACACA	EIF4A3	ENSG00000141543.12	transcript	ENST00000649764.2	protein_coding		1731		chr17	TogoVar
EIF4A3_chr17_80129369_80152128	80148858	T T	TTTTGTGT others(7): Show TTTTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0084 a0001c0001t0005g0084	1	420	0.0024	14	c.-18 others(25): Show c.-1898_-1897insCACACACACACAAA	EIF4A3	ENSG00000141543.12	transcript	ENST00000649764.2	protein_coding		1731		chr17	TogoVar
EIF4B_chr12_53001456_53047215	53003690	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG03834.hp1 NA19086.hp1 HG01243.hp2 HG03834.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0134 a0001c0001t0001g0261 a0001c0001t0001g0082 a0001c0001t0001g0134 a0001c0001t0001g0261	3	372	0.0081	14	c.-27 others(25): Show c.-2794_-2793insAAAAAAAAAAAAAA	EIF4B	ENSG00000063046.18	transcript	ENST00000262056.14	protein_coding		2765		chr12	TogoVar
EIF4B_chr12_53001456_53047215	53027136	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG01884.hp2 others(16): Show HG00558.hp1 HG00558.hp2 HG01884.hp2 HG02027.hp1 HG02109.hp1 HG02683.hp1 HG03041.hp1 HG03098.hp1 HG03139.hp2 HG03195.hp2 HG03239.hp2 HG03831.hp2 NA18522.hp2 NA18906.hp2 NA18967.hp2 NA19002.hp2 NA19004.hp2 NA19054.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0163 others(16): Show a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0163 a0001c0001t0002g0168 a0001c0001t0002g0174 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0216 a0001c0001t0002g0222 a0001c0001t0002g0232 a0001c0001t0002g0240 a0001c0001t0002g0244 a0001c0001t0002g0247 a0001c0001t0002g0249 a0001c0001t0002g0264 a0001c0001t0008g0183	19	372	0.0511	14	c.668 others(29): Show c.668-646_668-645insTTTTTTTTTTTTTT	EIF4B	ENSG00000063046.18	transcript	ENST00000262056.14	protein_coding	6/14			chr12	TogoVar
EIF4B_chr12_53001456_53047215	53027137	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03486.hp2 HG02572.hp1 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0360 a0001c0002t0011g0361 a0001c0002t0011g0360 a0001c0002t0011g0361	2	372	0.0054	14	c.668 others(29): Show c.668-638_668-625dupTTTTTTTTTTTTTT	EIF4B	ENSG00000063046.18	transcript	ENST00000262056.14	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr12	TogoVar

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