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
EGFR_chr7_55014017_55216628	55196178	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00621.hp2 HG01070.hp2 others(14): Show HG00438.hp1 HG00621.hp2 HG01070.hp2 HG01109.hp2 HG01192.hp2 HG01943.hp2 HG01993.hp2 HG02280.hp1 HG02486.hp2 HG02622.hp2 HG02647.hp1 HG02897.hp2 HG03516.hp2 HG03579.hp1 HG04184.hp1 NA18949.hp2 NA18965.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(7): Show a0001c0001 a0001c0003 a0001c0004 a0001c0013 a0001c0015 a0001c0016 a0001c0021 a0001c0023 a0001c0030 a0002c0009	a0001c0001t0002 a0001c0001t0022 a0001c0001t0023 others(11): Show a0001c0001t0002 a0001c0001t0022 a0001c0001t0023 a0001c0001t0026 a0001c0001t0029 a0001c0003t0015 a0001c0004t0008 a0001c0013t0024 a0001c0015t0001 a0001c0016t0001 a0001c0021t0020 a0001c0023t0024 a0001c0030t0001 a0002c0009t0002	a0001c0001t0002g0024 a0001c0001t0002g0244 a0001c0001t0022g0015 others(14): Show a0001c0001t0002g0024 a0001c0001t0002g0244 a0001c0001t0022g0015 a0001c0001t0023g0114 a0001c0001t0026g0121 a0001c0001t0029g0232 a0001c0003t0015g0231 a0001c0004t0008g0066 a0001c0004t0008g0070 a0001c0004t0008g0074 a0001c0013t0024g0151 a0001c0015t0001g0079 a0001c0016t0001g0193 a0001c0021t0020g0139 a0001c0023t0024g0208 a0001c0030t0001g0178 a0002c0009t0002g0057	17	250	0.0680	14	c.270 others(33): Show c.2702-2537_2702-2524dupTTTTTTTTTTTTTT	EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	22/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
EGLN1_chr1_231358756_231427287	231406165	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0158 a0001c0001t0014g0158	1	338	0.0030	14	c.891 others(33): Show c.891+14819_891+14832dupTTTTTTTTTTTTTT	EGLN1	ENSG00000135766.9	transcript	ENST00000366641.4	protein_coding	1/4			chr1	TogoVar
EGR3_chr8_22682659_22698480	22685400	G G	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG01261.hp2 HG01358.hp1 others(29): Show HG00738.hp2 HG01261.hp2 HG01358.hp1 HG01516.hp2 HG01517.hp1 HG02015.hp1 HG02074.hp1 HG02074.hp2 HG02273.hp1 HG02280.hp1 HG02698.hp2 HG02922.hp1 HG03017.hp1 HG03130.hp1 HG03239.hp2 NA18940.hp2 NA18946.hp2 NA18948.hp2 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18970.hp1 NA18983.hp2 NA19001.hp1 NA19002.hp1 NA19010.hp2 NA19074.hp2 NA19079.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0014 a0001c0001t0015 a0001c0001t0026 a0001c0001t0027 a0001c0001t0032 a0001c0002t0003 a0001c0002t0018 a0001c0002t0034	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0049 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0049 a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0015 a0001c0001t0003g0033 a0001c0001t0008g0010 a0001c0001t0014g0026 a0001c0001t0015g0043 a0001c0001t0026g0047 a0001c0001t0027g0048 a0001c0001t0032g0063 a0001c0002t0003g0003 a0001c0002t0018g0032 a0001c0002t0034g0065	32	374	0.0856	14	c.50 others(25): Show c.5072_*5073insACACACACACACAC	EGR3	ENSG00000179388.9	transcript	ENST00000317216.3	protein_coding		2258		chr8	TogoVar
EGR3_chr8_22682659_22698480	22685424	T T	TGTGTGTG others(7): Show TGTGTGTGTGTGCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	374	0.0027	14	c.50 others(25): Show c.5048_*5049insGCGCACACACACAC	EGR3	ENSG00000179388.9	transcript	ENST00000317216.3	protein_coding		2234		chr8	TogoVar
EGR3_chr8_22682659_22698480	22685424	T T	TGTGTGTG others(7): Show TGTGTGTGTGTGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp1 NA18998.hp2 NA19003.hp1 others(1): Show NA18985.hp1 NA18998.hp2 NA19003.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0035 a0001c0001t0001 a0001c0002t0035	a0001c0001t0001g0001 a0001c0002t0035g0066 a0001c0001t0001g0001 a0001c0002t0035g0066	4	374	0.0107	14	c.50 others(25): Show c.5048_*5049insGCACACACACACAC	EGR3	ENSG00000179388.9	transcript	ENST00000317216.3	protein_coding		2234		chr8	TogoVar
EHBP1_chr2_62700713_63051487	62820737	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	198	0.0051	14	c.313 others(31): Show c.313-5319_313-5306dupATATATATATATAT	EHBP1	ENSG00000115504.15	transcript	ENST00000431489.6	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EHBP1_chr2_62700713_63051487	62830153	G G	GACACACA others(7): Show GACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	198	0.0051	14	c.495 others(29): Show c.495-836_495-823dupCACACACACACACA	EHBP1	ENSG00000115504.15	transcript	ENST00000431489.6	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EHBP1_chr2_62700713_63051487	62879546	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02280.hp2 HG03704.hp1 others(2): Show HG01496.hp2 HG02280.hp2 HG03704.hp1 HG03831.hp2 NA18998.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0002 a0001c0004t0003 a0002c0002t0001 a0001c0001t0002 a0001c0004t0003 a0002c0002t0001	a0001c0001t0002g0082 a0001c0001t0002g0091 a0001c0004t0003g0115 others(2): Show a0001c0001t0002g0082 a0001c0001t0002g0091 a0001c0004t0003g0115 a0002c0002t0001g0004 a0002c0002t0001g0014	5	198	0.0253	14	c.118 others(33): Show c.1185+5046_1185+5059dupCACACACACACACA	EHBP1	ENSG00000115504.15	transcript	ENST00000431489.6	protein_coding	10/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EHBP1_chr2_62700713_63051487	62894923	A A	AAGAGAGA others(7): Show AAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00642.hp1 homoSapiens_chm13v2.hp1 HG00642.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0068 a0001c0001t0001g0072	2	198	0.0101	14	c.118 others(35): Show c.1185+20394_1185+20395insGAGAGAGAGAGAGA	EHBP1	ENSG00000115504.15	transcript	ENST00000431489.6	protein_coding	10/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EHBP1_chr2_62700713_63051487	62894927	A A	AAGAGAGA others(7): Show AAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02735.hp2 NA18999.hp1 HG02735.hp2 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0129 a0001c0001t0001g0074 a0001c0001t0001g0129	2	198	0.0101	14	c.118 others(35): Show c.1185+20411_1185+20424dupGAGAGAGAGAGAGA	EHBP1	ENSG00000115504.15	transcript	ENST00000431489.6	protein_coding	10/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EHBP1_chr2_62700713_63051487	63026294	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	198	0.0051	14	c.310 others(35): Show c.3104-11203_3104-11190dupGTGTGTGTGTGTGT	EHBP1	ENSG00000115504.15	transcript	ENST00000431489.6	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EHD2_chr19_47708422_47748134	47719946	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02280.hp2 HG02615.hp1 others(2): Show HG01891.hp2 HG02280.hp2 HG02615.hp1 HG02717.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0003 a0001c0004t0003 a0001c0001t0001 a0001c0002t0003 a0001c0004t0003	a0001c0001t0001g0022 a0001c0002t0003g0222 a0001c0002t0003g0291 others(2): Show a0001c0001t0001g0022 a0001c0002t0003g0222 a0001c0002t0003g0291 a0001c0002t0003g0293 a0001c0004t0003g0180	5	398	0.0126	14	c.502 others(31): Show c.502+1351_502+1364dupTGTGTGTGTGTGTG	EHD2	ENSG00000024422.12	transcript	ENST00000263277.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
EHD2_chr19_47708422_47748134	47731280	A A	ATATATAT others(7): Show ATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02896.hp2 HG03486.hp2 others(2): Show HG01891.hp1 HG02896.hp2 HG03486.hp2 HG03579.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0061 a0001c0002t0004g0143 a0001c0002t0004g0145 others(2): Show a0001c0002t0004g0061 a0001c0002t0004g0143 a0001c0002t0004g0145 a0001c0002t0004g0278 a0001c0002t0004g0352	5	398	0.0126	14	c.915 others(31): Show c.915+5069_915+5070insGTATATATATATAT	EHD2	ENSG00000024422.12	transcript	ENST00000263277.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
EHD2_chr19_47708422_47748134	47731303	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0001	a0001c0024t0001g0330 a0001c0024t0001g0330	1	398	0.0025	14	c.916 others(31): Show c.916-5055_916-5054insTATATATATATATA	EHD2	ENSG00000024422.12	transcript	ENST00000263277.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
EHD2_chr19_47708422_47748134	47733751	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG00639.hp1 others(13): Show HG00438.hp2 HG00558.hp1 HG00639.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG02071.hp1 HG02738.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 NA18953.hp2 NA18985.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0051 a0001c0001t0001g0082 a0001c0001t0001g0085 others(13): Show a0001c0001t0001g0051 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0096 a0001c0001t0001g0108 a0001c0001t0001g0121 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0249 a0001c0001t0001g0256 a0001c0001t0001g0312 a0001c0001t0001g0365 a0001c0001t0018g0355	16	398	0.0402	14	c.916 others(31): Show c.916-2607_916-2594dupAAAAAAAAAAAAAA	EHD2	ENSG00000024422.12	transcript	ENST00000263277.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
EHD3_chr2_31229152_31274451	31243460	C C	CTTTCTTT others(7): Show CTTTCTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02300.hp2 HG02818.hp2 others(1): Show HG00323.hp2 HG02300.hp2 HG02818.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0040 a0001c0001t0002 a0001c0001t0010 a0001c0001t0040	a0001c0001t0002g0179 a0001c0001t0010g0176 a0001c0001t0010g0178 others(1): Show a0001c0001t0002g0179 a0001c0001t0010g0176 a0001c0001t0010g0178 a0001c0001t0040g0177	4	378	0.0106	14	c.228 others(29): Show c.228-811_228-810insCTTTTTTTTTTTTT	EHD3	ENSG00000013016.16	transcript	ENST00000322054.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
EHD3_chr2_31229152_31274451	31245553	A A	ATATATAT others(7): Show ATATATATATATATT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0300 a0001c0001t0075g0300	1	378	0.0027	14	c.404 others(31): Show c.404+1104_404+1105insATATATATATATTT	EHD3	ENSG00000013016.16	transcript	ENST00000322054.10	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
EHD4_chr15_41890933_41977557	41918217	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0043 a0001c0002t0004g0043	1	360	0.0028	14	c.924 others(29): Show c.924+979_924+992dupGTGTGTGTGTGTGT	EHD4	ENSG00000103966.11	transcript	ENST00000220325.9	protein_coding	4/5			chr15	TogoVar
EHD4_chr15_41890933_41977557	41949016	C C	CTATATAT others(7): Show CTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG04184.hp1 NA18981.hp2 HG02615.hp1 HG04184.hp1 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0040 a0001c0001t0001 a0001c0001t0002 a0001c0002t0040	a0001c0001t0001g0248 a0001c0001t0002g0254 a0001c0002t0040g0219 a0001c0001t0001g0248 a0001c0001t0002g0254 a0001c0002t0040g0219	3	360	0.0083	14	c.413 others(31): Show c.413+4734_413+4747dupTATATATATATATA	EHD4	ENSG00000103966.11	transcript	ENST00000220325.9	protein_coding	2/5			chr15	TogoVar
EHD4_chr15_41890933_41977557	41949051	T T	TATATATA others(7): Show TATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0018 a0001c0001t0001g0019	2	360	0.0056	14	c.413 others(31): Show c.413+4712_413+4713insGTGTATATATATAT	EHD4	ENSG00000103966.11	transcript	ENST00000220325.9	protein_coding	2/5			chr15	TogoVar
EHHADH_chr3_185185624_185259049	185194800	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00423.hp1 others(47): Show HG00099.hp1 HG00099.hp2 HG00423.hp1 HG00609.hp2 HG00673.hp2 HG00735.hp2 HG00741.hp1 HG01106.hp1 HG01361.hp2 HG02015.hp1 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02257.hp2 HG02723.hp1 HG02922.hp2 HG02976.hp2 HG03098.hp2 HG03486.hp1 HG03486.hp2 HG03669.hp1 HG04204.hp2 NA18522.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18974.hp1 NA18975.hp2 NA18982.hp1 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19009.hp1 NA19011.hp1 NA19070.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19090.hp1 NA19090.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0008 others(1): Show a0001 a0005 a0008 a0009	a0001c0001 a0005c0005 a0008c0009 others(1): Show a0001c0001 a0005c0005 a0008c0009 a0009c0008	a0001c0001t0001 a0005c0005t0004 a0008c0009t0004 others(1): Show a0001c0001t0001 a0005c0005t0004 a0008c0009t0004 a0009c0008t0001	a0001c0001t0001g0006 a0001c0001t0001g0069 a0001c0001t0001g0082 others(46): Show a0001c0001t0001g0006 a0001c0001t0001g0069 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0147 a0001c0001t0001g0166 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0212 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0249 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0261 a0001c0001t0001g0272 a0001c0001t0001g0274 a0005c0005t0004g0126 a0005c0005t0004g0128 a0005c0005t0004g0129 a0008c0009t0004g0144 a0008c0009t0004g0146 a0009c0008t0001g0205	50	348	0.1437	14	c.911 others(31): Show c.911-1327_911-1314dupTTTTTTTTTTTTTT	EHHADH	ENSG00000113790.11	transcript	ENST00000231887.8	protein_coding	6/6			chr3	TogoVar
EHHADH_chr3_185185624_185259049	185213119	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA18984.hp1 HG02818.hp1 NA18984.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0003c0003t0001 a0002c0002t0002 a0003c0003t0001	a0002c0002t0002g0014 a0003c0003t0001g0041 a0002c0002t0002g0014 a0003c0003t0001g0041	2	348	0.0058	14	c.568 others(31): Show c.568+5003_568+5016dupTTTTTTTTTTTTTT	EHHADH	ENSG00000113790.11	transcript	ENST00000231887.8	protein_coding	5/6			chr3	TogoVar
EHHADH_chr3_185185624_185259049	185228257	A A	AAAAAAAA others(7): Show AAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00741.hp1 HG01981.hp1 others(2): Show HG00438.hp1 HG00741.hp1 HG01981.hp1 HG03669.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0229 others(2): Show a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0261	5	348	0.0144	14	c.463 others(31): Show c.463+1174_463+1175insATATATTTTTTTTT	EHHADH	ENSG00000113790.11	transcript	ENST00000231887.8	protein_coding	4/6			chr3	TogoVar
EHHADH_chr3_185185624_185259049	185228257	A A	AAAAAAAA others(7): Show AAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02129.hp2 NA18949.hp1 others(1): Show HG00642.hp1 HG02129.hp2 NA18949.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0243 a0001c0001t0001g0253 others(1): Show a0001c0001t0001g0221 a0001c0001t0001g0243 a0001c0001t0001g0253 a0001c0001t0001g0277	4	348	0.0115	14	c.463 others(31): Show c.463+1174_463+1175insATATATATTTTTTT	EHHADH	ENSG00000113790.11	transcript	ENST00000231887.8	protein_coding	4/6			chr3	TogoVar
EHHADH_chr3_185185624_185259049	185228257	A A	AAAAAATA others(7): Show AAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03471.hp1 NA18980.hp2 others(1): Show HG02698.hp1 HG03471.hp1 NA18980.hp2 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0003 a0001c0001t0001 a0002c0004t0003	a0001c0001t0001g0170 a0001c0001t0001g0242 a0001c0001t0001g0254 others(1): Show a0001c0001t0001g0170 a0001c0001t0001g0242 a0001c0001t0001g0254 a0002c0004t0003g0250	4	348	0.0115	14	c.463 others(31): Show c.463+1174_463+1175insATATATATATTTTT	EHHADH	ENSG00000113790.11	transcript	ENST00000231887.8	protein_coding	4/6			chr3	TogoVar
EHHADH_chr3_185185624_185259049	185228257	A A	AAAATATA others(7): Show AAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03540.hp2 NA19240.hp2 HG02976.hp2 HG03540.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251	3	348	0.0086	14	c.463 others(31): Show c.463+1174_463+1175insATATATATATATTT	EHHADH	ENSG00000113790.11	transcript	ENST00000231887.8	protein_coding	4/6			chr3	TogoVar
EHHADH_chr3_185185624_185259049	185228279	T T	TATATATA others(7): Show TATATATATATGGAG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	348	0.0029	14	c.463 others(31): Show c.463+1152_463+1153insCTCCATATATATAT	EHHADH	ENSG00000113790.11	transcript	ENST00000231887.8	protein_coding	4/6			chr3	TogoVar
EHMT1_chr9_137614005_137841127	137742289	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02738.hp1 HG02293.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0001 a0001c0002t0001 a0001c0005t0001	a0001c0002t0001g0019 a0001c0005t0001g0116 a0001c0002t0001g0019 a0001c0005t0001g0116	2	170	0.0118	14	c.824 others(31): Show c.824-1052_824-1039dupGTGTGTGTGTGTGT	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137768529	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0005 a0005	a0005c0021 a0005c0021	a0005c0021t0001 a0005c0021t0001	a0005c0021t0001g0090 a0005c0021t0001g0090	1	170	0.0059	14	c.164 others(33): Show c.1647+5734_1647+5747dupTTTTTTTTTTTTTT	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	10/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137795401	G G	GCACACAC others(7): Show GCACACACACACACA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01081.hp2 HG01175.hp1 others(5): Show HG00099.hp2 HG01081.hp2 HG01175.hp1 HG01256.hp1 HG01256.hp2 HG01516.hp2 NA19240.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0094 a0001c0001t0001g0103 a0001c0001t0001g0106 others(5): Show a0001c0001t0001g0094 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0143 a0001c0004t0001g0157	8	170	0.0471	14	c.250 others(33): Show c.2506-3398_2506-3385dupACACACACACACAC	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	16/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137795432	C C	CACACACA others(7): Show CACACACACTCACAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp2 HG01884.hp1 HG01891.hp2	a0001 a0001	a0001c0003 a0001c0009 a0001c0003 a0001c0009	a0001c0003t0001 a0001c0009t0001 a0001c0003t0001 a0001c0009t0001	a0001c0003t0001g0058 a0001c0009t0001g0061 a0001c0003t0001g0058 a0001c0009t0001g0061	2	170	0.0118	14	c.250 others(33): Show c.2506-3377_2506-3376insACACTCACATACAC	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	16/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EID2B_chr19_39525987_39537852	39529272	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG02109.hp1 HG02258.hp2 others(8): Show HG01109.hp1 HG02109.hp1 HG02258.hp2 HG02723.hp2 HG03209.hp1 HG03453.hp2 HG03471.hp2 HG03491.hp1 HG06807.hp1 NA18992.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0001c0001t0002 a0001c0001t0006 a0001c0001t0009	a0001c0001t0002g0000 a0001c0001t0006g0000 a0001c0001t0009g0000 a0001c0001t0002g0000 a0001c0001t0006g0000 a0001c0001t0009g0000	11	418	0.0263	14	c.30 others(25): Show c.3044_*3045insAAAAAAAAAAAAAA	EID2B	ENSG00000176401.6	transcript	ENST00000326282.5	protein_coding		1714		chr19	TogoVar
EID2_chr19_39533707_39545161	39542970	T T	TGTGTGTG others(7): Show TGTGTGTGTGTGTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	1	420	0.0024	14	c.-28 others(25): Show c.-2892_-2891insTCACACACACACAC	EID2	ENSG00000176396.11	transcript	ENST00000390658.4	protein_coding		2810		chr19	TogoVar
EID3_chr12_104298739_104310205	104302486	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01081.hp2 HG02735.hp2 HG01069.hp1 HG01081.hp2 HG02735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0001 a0001c0002t0004	a0001c0002t0001g0000 a0001c0002t0004g0000 a0001c0002t0001g0000 a0001c0002t0004g0000	3	418	0.0072	14	c.-14 others(25): Show c.-1449_-1448insTTTTTTTTTTTTTT	EID3	ENSG00000255150.2	transcript	ENST00000527879.2	protein_coding		1252		chr12	TogoVar
EIF1AX_chrX_20119525_20146838	20122369	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00558.hp2 HG00642.hp1 others(37): Show HG00099.hp1 HG00558.hp2 HG00642.hp1 HG00738.hp1 HG00741.hp2 HG01081.hp2 HG01496.hp2 HG01891.hp1 HG01952.hp1 HG01978.hp1 HG01981.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02155.hp2 HG02257.hp1 HG02451.hp2 HG03195.hp1 HG03516.hp1 HG03516.hp2 HG03710.hp1 HG04184.hp2 NA18612.hp1 NA18747.hp1 NA18960.hp1 NA18968.hp1 NA18970.hp1 NA18971.hp1 NA18982.hp1 NA18986.hp1 NA18995.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19009.hp1 NA19030.hp2 NA19062.hp1 NA19079.hp1 NA19088.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0021 a0001c0001t0022	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(24): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0082 a0001c0001t0001g0107 a0001c0001t0002g0025 a0001c0001t0002g0074 a0001c0001t0002g0119 a0001c0001t0003g0005 a0001c0001t0003g0024 a0001c0001t0003g0156 a0001c0001t0006g0007 a0001c0001t0006g0067 a0001c0001t0006g0106 a0001c0001t0007g0128 a0001c0001t0021g0120 a0001c0001t0022g0129	40	278	0.1439	14	c.59 others(25): Show c.5936_*5937insTTTTTTTTTTTTTT	EIF1AX	ENSG00000173674.11	transcript	ENST00000379607.10	protein_coding		2155		chrX	TogoVar
EIF2AK1_chr7_6017247_6064175	6018968	T T	TACACACA others(7): Show TACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG01496.hp2 HG02055.hp2 others(13): Show HG00280.hp1 HG01496.hp2 HG02055.hp2 HG02109.hp2 HG02559.hp1 HG02647.hp2 HG02809.hp1 HG02922.hp1 HG03017.hp1 HG03041.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03471.hp1 NA19043.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0062 a0001c0002t0001g0152 a0001c0002t0001g0159 others(13): Show a0001c0001t0003g0062 a0001c0002t0001g0152 a0001c0002t0001g0159 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0173 a0001c0002t0001g0200 a0001c0002t0001g0204 a0001c0002t0001g0211 a0001c0002t0001g0214 a0001c0002t0001g0221 a0001c0002t0001g0226 a0001c0002t0001g0384	16	418	0.0383	14	c.56 others(25): Show c.5691_*5704dupGTGTGTGTGTGTGT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding		3278		chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAATATA others(7): Show AAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0345 a0001c0001t0004g0345	1	418	0.0024	14	c.119 others(31): Show c.119-1910_119-1909insATATATATATATTT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0341 a0001c0001t0005g0341	1	418	0.0024	14	c.119 others(31): Show c.119-1923_119-1910dupATATATATATATAT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056628	A A	ATATATAT others(7): Show ATATATATATGTATG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01123.hp2 HG01255.hp2 others(13): Show HG00741.hp2 HG01123.hp2 HG01255.hp2 HG01261.hp1 HG01515.hp2 HG01517.hp1 HG01978.hp2 HG01981.hp2 HG02055.hp2 HG02559.hp1 HG02559.hp2 HG02698.hp2 HG02896.hp2 NA18947.hp2 NA19089.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0008 a0001c0002t0009 a0001c0002t0001 a0001c0002t0008 a0001c0002t0009	a0001c0002t0001g0009 a0001c0002t0001g0156 a0001c0002t0001g0159 others(12): Show a0001c0002t0001g0009 a0001c0002t0001g0156 a0001c0002t0001g0159 a0001c0002t0001g0169 a0001c0002t0001g0188 a0001c0002t0001g0202 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0008g0151 a0001c0002t0009g0157 a0001c0002t0009g0158	16	418	0.0383	14	c.119 others(31): Show c.119-1925_119-1924insCATACATATATATA	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2AK4_chr15_39929115_40040591	39968873	G G	GATATATA others(7): Show GATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0216 a0004c0007t0001g0216	1	368	0.0027	14	c.155 others(33): Show c.1553+1000_1553+1013dupTATATATATATATA	EIF2AK4	ENSG00000128829.12	transcript	ENST00000263791.10	protein_coding	9/38		INFO_REALIGN_3_PRIME	chr15	TogoVar
EIF2AK4_chr15_39929115_40040591	39975246	A A	ATGACACA others(7): Show ATGACACACCTCTAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(300): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 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.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18962.hp1 NA18964.hp2 NA18965.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18980.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010 a0011 a0014 a0015 a0016 a0017	a0001c0001 a0001c0005 a0001c0020 others(28): Show a0001c0001 a0001c0005 a0001c0020 a0001c0021 a0001c0022 a0001c0033 a0002c0002 a0002c0004 a0002c0011 a0002c0013 a0002c0019 a0002c0029 a0002c0030 a0002c0031 a0003c0003 a0003c0010 a0004c0006 a0004c0007 a0004c0037 a0005c0008 a0005c0014 a0006c0012 a0006c0032 a0008c0015 a0009c0016 a0010c0018 a0011c0017 a0014c0028 a0015c0027 a0016c0034 a0017c0035	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(60): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0012 a0001c0005t0001 a0001c0005t0002 a0001c0005t0004 a0001c0005t0005 a0001c0020t0001 a0001c0021t0003 a0001c0022t0002 a0001c0033t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0007 a0002c0002t0008 a0002c0002t0010 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0002c0004t0004 a0002c0004t0005 a0002c0004t0014 a0002c0011t0002 a0002c0013t0001 a0002c0019t0001 a0002c0029t0002 a0002c0030t0002 a0002c0031t0009 a0003c0003t0002 a0003c0010t0001 a0004c0006t0001 a0004c0006t0002 a0004c0006t0003 a0004c0006t0004 a0004c0006t0006 a0004c0007t0001 a0004c0007t0002 a0004c0007t0003 a0004c0037t0001 a0005c0008t0001 a0005c0008t0004 a0005c0014t0004 a0006c0012t0001 a0006c0012t0002 a0006c0012t0003 a0006c0032t0005 a0008c0015t0005 a0008c0015t0006 a0009c0016t0007 a0010c0018t0005 a0011c0017t0002 a0011c0017t0003 a0014c0028t0002 a0015c0027t0002 a0016c0034t0001 a0017c0035t0003	a0001c0001t0001g0001 a0001c0001t0001g0112 a0001c0001t0001g0115 others(294): Show a0001c0001t0001g0001 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0155 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0244 a0001c0001t0001g0356 a0001c0001t0002g0009 a0001c0001t0002g0013 a0001c0001t0002g0090 a0001c0001t0002g0111 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0138 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0152 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0178 a0001c0001t0002g0206 a0001c0001t0002g0220 a0001c0001t0002g0223 a0001c0001t0003g0002 a0001c0001t0003g0012 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0113 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0222 a0001c0001t0003g0225 a0001c0001t0003g0227 a0001c0001t0003g0246 a0001c0001t0003g0269 a0001c0001t0004g0195 a0001c0001t0004g0245 a0001c0001t0005g0014 a0001c0001t0005g0023 a0001c0001t0005g0028 a0001c0001t0005g0029 a0001c0001t0005g0030 a0001c0001t0005g0031 a0001c0001t0005g0033 a0001c0001t0011g0164 a0001c0001t0012g0156 a0001c0005t0001g0032 a0001c0005t0001g0034 a0001c0005t0001g0125 a0001c0005t0001g0132 a0001c0005t0001g0134 a0001c0005t0001g0135 a0001c0005t0001g0137 a0001c0005t0001g0153 a0001c0005t0001g0181 a0001c0005t0001g0226 a0001c0005t0001g0247 a0001c0005t0002g0196 a0001c0005t0002g0221 a0001c0005t0004g0121 a0001c0005t0005g0108 a0001c0005t0005g0123 a0001c0005t0005g0124 a0001c0005t0005g0154 a0001c0020t0001g0174 a0001c0021t0003g0224 a0001c0022t0002g0169 a0001c0033t0001g0131 a0002c0002t0001g0003 a0002c0002t0001g0020 a0002c0002t0001g0022 a0002c0002t0001g0035 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0163 a0002c0002t0001g0271 a0002c0002t0001g0284 a0002c0002t0001g0286 a0002c0002t0001g0287 a0002c0002t0001g0288 a0002c0002t0001g0289 a0002c0002t0001g0290 a0002c0002t0001g0291 a0002c0002t0001g0294 a0002c0002t0001g0296 a0002c0002t0001g0298 a0002c0002t0001g0300 a0002c0002t0001g0360 a0002c0002t0001g0361 a0002c0002t0001g0362 a0002c0002t0002g0040 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0305 a0002c0002t0002g0309 a0002c0002t0002g0310 a0002c0002t0002g0311 a0002c0002t0002g0314 a0002c0002t0002g0334 a0002c0002t0002g0337 a0002c0002t0002g0338 a0002c0002t0002g0339 a0002c0002t0002g0351 a0002c0002t0002g0352 a0002c0002t0003g0049 a0002c0002t0003g0050 a0002c0002t0003g0162 a0002c0002t0003g0277 a0002c0002t0003g0318 a0002c0002t0003g0319 a0002c0002t0003g0335 a0002c0002t0003g0336 a0002c0002t0004g0015 a0002c0002t0004g0016 a0002c0002t0004g0017 a0002c0002t0004g0018 a0002c0002t0004g0019 a0002c0002t0004g0237 a0002c0002t0005g0021 a0002c0002t0005g0293 a0002c0002t0007g0043 a0002c0002t0008g0324 a0002c0002t0010g0046 a0002c0004t0001g0005 a0002c0004t0001g0007 a0002c0004t0001g0041 a0002c0004t0001g0051 a0002c0004t0001g0210 a0002c0004t0001g0258 a0002c0004t0001g0272 a0002c0004t0001g0275 a0002c0004t0001g0278 a0002c0004t0001g0301 a0002c0004t0001g0304 a0002c0004t0001g0313 a0002c0004t0001g0316 a0002c0004t0001g0320 a0002c0004t0001g0321 a0002c0004t0001g0322 a0002c0004t0001g0323 a0002c0004t0001g0325 a0002c0004t0001g0326 a0002c0004t0001g0327 a0002c0004t0001g0328 a0002c0004t0001g0329 a0002c0004t0001g0330 a0002c0004t0001g0343 a0002c0004t0001g0346 a0002c0004t0001g0348 a0002c0004t0001g0350 a0002c0004t0001g0353 a0002c0004t0001g0358 a0002c0004t0001g0359 a0002c0004t0002g0229 a0002c0004t0002g0273 a0002c0004t0002g0276 a0002c0004t0002g0312 a0002c0004t0002g0315 a0002c0004t0002g0317 a0002c0004t0002g0333 a0002c0004t0002g0349 a0002c0004t0002g0354 a0002c0004t0003g0036 a0002c0004t0003g0038 a0002c0004t0003g0039 a0002c0004t0003g0257 a0002c0004t0003g0264 a0002c0004t0004g0331 a0002c0004t0004g0341 a0002c0004t0005g0037 a0002c0004t0005g0114 a0002c0004t0005g0238 a0002c0004t0014g0303 a0002c0011t0002g0096 a0002c0011t0002g0302 a0002c0011t0002g0332 a0002c0011t0002g0347 a0002c0013t0001g0279 a0002c0013t0001g0280 a0002c0013t0001g0281 a0002c0013t0001g0283 a0002c0019t0001g0282 a0002c0019t0001g0285 a0002c0029t0002g0307 a0002c0030t0002g0306 a0002c0031t0009g0045 a0003c0003t0002g0076 a0003c0010t0001g0077 a0004c0006t0001g0211 a0004c0006t0001g0255 a0004c0006t0001g0256 a0004c0006t0001g0260 a0004c0006t0001g0262 a0004c0006t0002g0212 a0004c0006t0002g0254 a0004c0006t0003g0345 a0004c0006t0004g0249 a0004c0006t0004g0250 a0004c0006t0004g0266 a0004c0006t0006g0252 a0004c0006t0006g0253 a0004c0006t0006g0261 a0004c0007t0001g0213 a0004c0007t0001g0214 a0004c0007t0001g0216 a0004c0007t0001g0217 a0004c0007t0001g0228 a0004c0007t0001g0251 a0004c0007t0001g0265 a0004c0007t0002g0215 a0004c0007t0002g0248 a0004c0007t0002g0263 a0004c0007t0002g0267 a0004c0007t0003g0259 a0004c0037t0001g0274 a0005c0008t0001g0297 a0005c0008t0001g0299 a0005c0008t0001g0357 a0005c0008t0004g0004 a0005c0008t0004g0340 a0005c0014t0004g0006 a0005c0014t0004g0292 a0005c0014t0004g0295 a0006c0012t0001g0268 a0006c0012t0002g0151 a0006c0012t0002g0177 a0006c0012t0003g0270 a0006c0032t0005g0122 a0008c0015t0005g0026 a0008c0015t0006g0025 a0008c0015t0006g0027 a0009c0016t0007g0042 a0009c0016t0007g0044 a0010c0018t0005g0239 a0010c0018t0005g0241 a0011c0017t0002g0240 a0011c0017t0003g0342 a0014c0028t0002g0308 a0015c0027t0002g0024 a0016c0034t0001g0150 a0017c0035t0003g0236	303	368	0.8234	14	c.181 others(33): Show c.1819-1167_1819-1166insGACACACCTCTACT	EIF2AK4	ENSG00000128829.12	transcript	ENST00000263791.10	protein_coding	11/38		INFO_REALIGN_3_PRIME	chr15	TogoVar
EIF2AK4_chr15_39929115_40040591	40017501	C C	CTATATAT others(7): Show CTATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01168.hp1 NA18979.hp1 others(3): Show HG00438.hp1 HG01168.hp1 NA18979.hp1 NA19002.hp2 NA19010.hp1 NA19067.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0003 a0004c0006t0001 a0001c0001t0003 a0004c0006t0001	a0001c0001t0003g0012 a0001c0001t0003g0172 a0001c0001t0003g0189 others(3): Show a0001c0001t0003g0012 a0001c0001t0003g0172 a0001c0001t0003g0189 a0001c0001t0003g0199 a0001c0001t0003g0269 a0004c0006t0001g0260	6	368	0.0163	14	c.406 others(31): Show c.4065+299_4065+312dupATATATATATATAT	EIF2AK4	ENSG00000128829.12	transcript	ENST00000263791.10	protein_coding	29/38		INFO_REALIGN_3_PRIME	chr15	TogoVar
EIF2AK4_chr15_39929115_40040591	40017501	C C	CTTTATAT others(7): Show CTTTATATATATATA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0360 a0002c0002t0001g0360	1	368	0.0027	14	c.406 others(31): Show c.4065+260_4065+261insTTATATATATATAT	EIF2AK4	ENSG00000128829.12	transcript	ENST00000263791.10	protein_coding	29/38		INFO_REALIGN_3_PRIME	chr15	TogoVar
EIF2AK4_chr15_39929115_40040591	40017551	A A	ATATATAT others(7): Show ATATATATATACATG	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA18964.hp1 HG02523.hp2 NA18964.hp1	a0003 a0007 a0003 a0007	a0003c0003 a0007c0009 a0003c0003 a0007c0009	a0003c0003t0003 a0007c0009t0003 a0003c0003t0003 a0007c0009t0003	a0003c0003t0003g0091 a0007c0009t0003g0232 a0003c0003t0003g0091 a0007c0009t0003g0232	2	368	0.0054	14	c.406 others(31): Show c.4065+312_4065+313insATATATACATGTAT	EIF2AK4	ENSG00000128829.12	transcript	ENST00000263791.10	protein_coding	29/38		INFO_REALIGN_3_PRIME	chr15	TogoVar
EIF2AK4_chr15_39929115_40040591	40017551	A A	ATATATAT others(7): Show ATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG03927.hp2 NA18990.hp1 HG01361.hp1 HG03927.hp2 NA18990.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0207 a0002c0002t0001g0288 a0002c0002t0001g0291 a0001c0001t0001g0207 a0002c0002t0001g0288 a0002c0002t0001g0291	3	368	0.0082	14	c.406 others(31): Show c.4065+312_4065+313insATATATATATGTAT	EIF2AK4	ENSG00000128829.12	transcript	ENST00000263791.10	protein_coding	29/38		INFO_REALIGN_3_PRIME	chr15	TogoVar
EIF2AK4_chr15_39929115_40040591	40017551	A A	ATATATAT others(7): Show ATATATATGTATATG	intron_variant intron_variant	MODIFIER	HG04184.hp2 NA18969.hp1 HG04184.hp2 NA18969.hp1	a0003 a0004 a0003 a0004	a0003c0003 a0004c0006 a0003c0003 a0004c0006	a0003c0003t0002 a0004c0006t0002 a0003c0003t0002 a0004c0006t0002	a0003c0003t0002g0008 a0004c0006t0002g0254 a0003c0003t0002g0008 a0004c0006t0002g0254	2	368	0.0054	14	c.406 others(31): Show c.4065+312_4065+313insATATGTATATGTAT	EIF2AK4	ENSG00000128829.12	transcript	ENST00000263791.10	protein_coding	29/38		INFO_REALIGN_3_PRIME	chr15	TogoVar
EIF2AK4_chr15_39929115_40040591	40017551	A A	ATATATGT others(7): Show ATATATGTATGTATG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01169.hp1 HG02976.hp1 others(2): Show HG01099.hp1 HG01169.hp1 HG02976.hp1 NA18989.hp1 NA19005.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0008	a0001c0001 a0002c0019 a0005c0008 others(1): Show a0001c0001 a0002c0019 a0005c0008 a0008c0015	a0001c0001t0002 a0001c0001t0012 a0002c0019t0001 others(2): Show a0001c0001t0002 a0001c0001t0012 a0002c0019t0001 a0005c0008t0001 a0008c0015t0006	a0001c0001t0002g0144 a0001c0001t0012g0156 a0002c0019t0001g0282 others(2): Show a0001c0001t0002g0144 a0001c0001t0012g0156 a0002c0019t0001g0282 a0005c0008t0001g0357 a0008c0015t0006g0025	5	368	0.0136	14	c.406 others(31): Show c.4065+312_4065+313insATGTATGTATGTAT	EIF2AK4	ENSG00000128829.12	transcript	ENST00000263791.10	protein_coding	29/38		INFO_REALIGN_3_PRIME	chr15	TogoVar
EIF2AK4_chr15_39929115_40040591	40022181	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01168.hp1 HG01361.hp2 others(2): Show HG00544.hp1 HG01168.hp1 HG01361.hp2 HG02071.hp1 NA18989.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0004 a0003c0003 others(1): Show a0001c0001 a0002c0004 a0003c0003 a0004c0006	a0001c0001t0012 a0002c0004t0001 a0003c0003t0002 others(1): Show a0001c0001t0012 a0002c0004t0001 a0003c0003t0002 a0004c0006t0001	a0001c0001t0012g0156 a0002c0004t0001g0258 a0002c0004t0001g0329 others(2): Show a0001c0001t0012g0156 a0002c0004t0001g0258 a0002c0004t0001g0329 a0003c0003t0002g0089 a0004c0006t0001g0260	5	368	0.0136	14	c.430 others(31): Show c.4303-317_4303-304dupGTGTGTGTGTGTGT	EIF2AK4	ENSG00000128829.12	transcript	ENST00000263791.10	protein_coding	31/38		INFO_REALIGN_3_PRIME	chr15	TogoVar
EIF2AK4_chr15_39929115_40040591	40037279	G G	GAAAAAAA others(7): Show GAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG02615.hp2 HG00741.hp1 HG02615.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0004 a0001c0005 a0002c0004	a0001c0005t0005 a0002c0004t0005 a0001c0005t0005 a0002c0004t0005	a0001c0005t0005g0154 a0002c0004t0005g0238 a0001c0005t0005g0154 a0002c0004t0005g0238	2	368	0.0054	14	c.21 others(25): Show c.2195_*2196insAAAAAAAAAAAAAA	EIF2AK4	ENSG00000128829.12	transcript	ENST00000263791.10	protein_coding		1689		chr15	TogoVar
EIF2AK4_chr15_39929115_40040591	40037279	G G	GGAAAAAA others(7): Show GGAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02027.hp2 HG02040.hp2 others(21): Show HG01109.hp2 HG02027.hp2 HG02040.hp2 HG02145.hp1 HG02258.hp2 HG02523.hp2 HG02630.hp1 HG02738.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG03486.hp2 HG03579.hp1 NA18947.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp2 NA18974.hp1 NA19006.hp1 NA19011.hp2 NA19054.hp2 NA19079.hp2 NA19082.hp1 NA19087.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0007 a0011 a0013 a0014	a0001c0001 a0001c0021 a0002c0002 others(7): Show a0001c0001 a0001c0021 a0002c0002 a0002c0011 a0002c0029 a0003c0003 a0007c0009 a0011c0017 a0013c0023 a0014c0028	a0001c0001t0002 a0001c0001t0003 a0001c0021t0003 others(9): Show a0001c0001t0002 a0001c0001t0003 a0001c0021t0003 a0002c0002t0002 a0002c0011t0002 a0002c0029t0002 a0003c0003t0002 a0003c0003t0003 a0007c0009t0003 a0011c0017t0002 a0013c0023t0003 a0014c0028t0002	a0001c0001t0002g0090 a0001c0001t0003g0209 a0001c0021t0003g0224 others(21): Show a0001c0001t0002g0090 a0001c0001t0003g0209 a0001c0021t0003g0224 a0002c0002t0002g0040 a0002c0002t0002g0337 a0002c0002t0002g0338 a0002c0002t0002g0339 a0002c0002t0002g0351 a0002c0002t0002g0352 a0002c0011t0002g0347 a0002c0029t0002g0307 a0003c0003t0002g0081 a0003c0003t0002g0083 a0003c0003t0002g0088 a0003c0003t0002g0097 a0003c0003t0002g0104 a0003c0003t0003g0063 a0003c0003t0003g0091 a0007c0009t0003g0232 a0007c0009t0003g0234 a0007c0009t0003g0235 a0011c0017t0002g0240 a0013c0023t0003g0233 a0014c0028t0002g0308	24	368	0.0652	14	c.21 others(25): Show c.2195_*2196insGAAAAAAAAAAAAA	EIF2AK4	ENSG00000128829.12	transcript	ENST00000263791.10	protein_coding		1689		chr15	TogoVar

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