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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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ELOVL5_chr6_53262404_53353950	53319270	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02258.hp2 HG02630.hp1 others(4): Show HG01168.hp1 HG02258.hp2 HG02630.hp1 HG02723.hp1 HG02976.hp2 HG03139.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0022 others(4): Show a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0002t0002g0017	7	320	0.0219	-27	c.-8- others(44): Show c.-8-23590_-8-23564delTTTTTTTTTTTTTTTTTTTTTTTTTTT		ELOVL5	ENSG00000012660.14	transcript	ENST00000304434.11	protein_coding	1/7						chr6	TogoVar
EMC7_chr15_34079017_34106862	34084900	CCCCACCC others(20): Show CCCCACCCCACAACAGGCCCTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	410	0.0024	-27	c.577 others(42): Show c.577-441_577-415delCACACACAGGGCCTGTTGTGGGGTGGG		EMC7	ENSG00000134153.10	transcript	ENST00000256545.9	protein_coding	4/4						chr15	TogoVar
EML2_chr19_45604400_45644397	45634457	CCACGGTA others(20): Show CCACGGTAGCCATAGCTGGAGCCACCCA	C C	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA19078.hp2 NA19078.hp2	a0010 a0010	a0010c0023 a0010c0023	a0010c0023t0001 a0010c0023t0001	a0010c0023t0001g0037 a0010c0023t0001g0037	1	382	0.0026	-27	c.180 others(37): Show c.180-13_193delTGGGTGGCTCCAGCTATGGCTACCGTG	p.Tyr others(4): Show p.Tyr61fs	EML2	ENSG00000125746.18	transcript	ENST00000245925.8	protein_coding	4/19	214/2234	180/1950	60/649			chr19	TogoVar
EML5_chr14_88607431_88797953	88607857	TCCCCTAT others(20): Show TCCCCTATCTCACCCTGCAAGTACCATC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0128	1	332	0.0030	-27	c.79 others(38): Show c.7934_*7960delGATGGTACTTGCAGGGTGAGATAGGGG		EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding					4573		chr14	TogoVar
EML5_chr14_88607431_88797953	88796200	ATTATATA others(20): Show ATTATATATATTATATATATATTATATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02280.hp2 HG03130.hp1 others(3): Show HG02145.hp2 HG02280.hp2 HG03130.hp1 HG03453.hp1 NA18906.hp1 NA18990.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0006 a0001c0003t0004 a0002c0002t0001 a0001c0001t0006 a0001c0003t0004 a0002c0002t0001	a0001c0001t0006g0208 a0001c0003t0004g0310 a0001c0003t0004g0311 others(3): Show a0001c0001t0006g0208 a0001c0003t0004g0310 a0001c0003t0004g0311 a0001c0003t0004g0312 a0001c0003t0004g0313 a0002c0002t0001g0231	6	332	0.0181	-27	c.-37 others(38): Show c.-3724_-3698delCATATAATATATATATAATATATATAA		EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding					3248		chr14	TogoVar
EML5_chr14_88607431_88797953	88796380	ATTATATA others(20): Show ATTATATATATATTATATGTTATATATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	332	0.0030	-27	c.-39 others(38): Show c.-3904_-3878delAATATATAACATATAATATATATATAA		EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding					3428		chr14	TogoVar
EMSY_chr11_76440018_76558031	76494654	CCTTCCTT others(20): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01515.hp2 others(4): Show HG01167.hp2 HG01169.hp2 HG01515.hp2 HG02738.hp2 HG03239.hp2 HG03710.hp2 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0022 a0001c0002t0024 a0001c0002t0001 a0001c0002t0022 a0001c0002t0024	a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0031 others(4): Show a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0031 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0022g0022 a0001c0002t0024g0064	7	360	0.0194	-27	c.115 others(46): Show c.1154-1559_1154-1533delTTCCTTCCTTCCTTCCTTCCTTCCTT C		EMSY	ENSG00000158636.17	transcript	ENST00000695367.1	protein_coding	9/21					INFO_REALIGN_3_PRIME	chr11	TogoVar
ENAH_chr1_225481829_225658123	225520948	GGGAGGGA others(20): Show GGGAGGGAGGGAGGGAGGGAGGGAGGGA	G G	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	308	0.0033	-27	c.435 others(44): Show c.435-1410_435-1384delTCCCTCCCTCCCTCCCTCCCTCCCTCC		ENAH	ENSG00000154380.19	transcript	ENST00000366843.7	protein_coding	4/13						chr1	TogoVar
ENOSF1_chr18_665318_717630	667429	GAGATGGT others(20): Show GAGATGGTGATGGTGATGGTGATGGTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02970.hp2 HG03516.hp1 HG02559.hp2 HG02970.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0275 a0001c0001t0001g0326 a0001c0001t0001g0271 a0001c0001t0001g0275 a0001c0001t0001g0326	3	418	0.0072	-27	c.68 others(38): Show c.6849_*6875delTCACCATCACCATCACCATCACCATCT		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					2888		chr18	TogoVar
ENOSF1_chr18_665318_717630	667436	TGATGGTG others(20): Show TGATGGTGATGGTGATGGTGATGATGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 NA18968.hp1 HG04115.hp2 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0028 a0001c0003t0001 a0001c0001t0028 a0001c0003t0001	a0001c0001t0028g0304 a0001c0003t0001g0301 a0001c0001t0028g0304 a0001c0003t0001g0301	2	418	0.0048	-27	c.68 others(38): Show c.6842_*6868delTCCATCATCACCATCACCATCACCATC		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					2881		chr18	TogoVar
ENPP7_chr17_79725943_79747219	79746195	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG02145.hp2 HG02970.hp1 others(5): Show HG01255.hp2 HG02145.hp2 HG02970.hp1 HG03041.hp1 HG03209.hp1 HG03471.hp1 HG03579.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0009 others(2): Show a0001c0002 a0001c0003 a0001c0009 a0002c0001 a0002c0010	a0001c0002t0002 a0001c0003t0001 a0001c0009t0001 others(2): Show a0001c0002t0002 a0001c0003t0001 a0001c0009t0001 a0002c0001t0001 a0002c0010t0001	a0001c0002t0002g0008 a0001c0002t0002g0085 a0001c0003t0001g0033 others(5): Show a0001c0002t0002g0008 a0001c0002t0002g0085 a0001c0003t0001g0033 a0001c0009t0001g0074 a0002c0001t0001g0136 a0002c0001t0001g0137 a0002c0010t0001g0023 a0002c0010t0001g0122	8	430	0.0186	-27	c.44 others(38): Show c.4419_*4445delAAAAAAAAAAAAAAAAAAAAAAAAAAA		ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding					3977		chr17	TogoVar
ENSA_chr1_150617125_150634612	150618056	TGTCGCCC others(20): Show TGTCGCCCAGGCTGGAGTGCAGTGGCGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	422	0.0024	-27	c.47 others(38): Show c.4761_*4787delGCGCCACTGCACTCCAGCCTGGGCGAC		ENSA	ENSG00000143420.19	transcript	ENST00000369014.10	protein_coding					4068		chr1	TogoVar
ENTREP2_chr15_29115252_29575979	29306664	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0002 a0003c0014t0002	a0003c0014t0002g0067 a0003c0014t0002g0067	1	125	0.0080	-27	c.277 others(46): Show c.277-54213_277-54187delAAAAAAAAAAAAAAAAAAAAAAAAAA A		ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	2/10						chr15	TogoVar
EPAS1_chr2_46292407_46391697	46362953	AGTGGTGG others(20): Show AGTGGTGGTGGTGGTGGTGGTGGTAGTG	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG06807.hp2 HG03139.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0017 a0002c0002t0019g0027 a0002c0002t0019g0017 a0002c0002t0019g0027	2	326	0.0061	-27	c.779 others(44): Show c.779+1887_779+1913delAGTGGTGGTGGTGGTGGTGGTGGTGGT		EPAS1	ENSG00000116016.14	transcript	ENST00000263734.5	protein_coding	6/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
EPB41L3_chr18_5387386_5548997	5505705	CTCCACAC others(20): Show CTCCACACCTTCACCTCCACCCCTACCA	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03139.hp1 NA18522.hp1 HG02886.hp2 HG03139.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0041 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0001g0041 a0001c0002t0002g0039 a0001c0002t0002g0040	3	222	0.0135	-27	c.-11 others(46): Show c.-11-16538_-11-16512delTGGTAGGGGTGGAGGTGAAGGTGTGG A		EPB41L3	ENSG00000082397.18	transcript	ENST00000341928.7	protein_coding	1/22						chr18	TogoVar
EPB41L4B_chr9_109166974_109326059	109176027	TCCCTTGT others(20): Show TCCCTTGTCAATATCACACACACGCACA	T T	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0143 a0001c0001t0012g0143	1	318	0.0031	-27	c.263 others(44): Show c.2633+497_2633+523delTGTGCGTGTGTGTGATATTGACAAGGG		EPB41L4B	ENSG00000095203.15	transcript	ENST00000374566.8	protein_coding	25/25						chr9	TogoVar
EPB41L4B_chr9_109166974_109326059	109204323	CAGCCCTC others(20): Show CAGCCCTCACGACCATCACAACATACAG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00639.hp1 HG01081.hp1 others(44): Show HG00408.hp1 HG00639.hp1 HG01081.hp1 HG01099.hp2 HG01109.hp2 HG01192.hp2 HG01256.hp2 HG01891.hp1 HG01934.hp1 HG02004.hp2 HG02148.hp1 HG02280.hp1 HG02523.hp1 HG02572.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp2 HG02723.hp2 HG02895.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03195.hp1 HG03209.hp2 HG03453.hp2 HG03486.hp1 HG03669.hp2 HG03834.hp1 HG03942.hp1 HG04204.hp1 HG04228.hp1 NA18906.hp1 NA18945.hp2 NA18956.hp1 NA18967.hp2 NA18970.hp2 NA18971.hp1 NA18979.hp1 NA18979.hp2 NA18990.hp1 NA18994.hp1 NA18999.hp1 NA19030.hp1 NA19062.hp1 NA19065.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0004 others(6): Show a0001c0001 a0001c0002 a0001c0004 a0001c0016 a0002c0003 a0002c0005 a0003c0008 a0003c0011 a0005c0013	a0001c0001t0001 a0001c0002t0012 a0001c0002t0037 others(24): Show a0001c0001t0001 a0001c0002t0012 a0001c0002t0037 a0001c0002t0063 a0001c0004t0001 a0001c0004t0002 a0001c0004t0011 a0001c0004t0014 a0001c0004t0033 a0001c0004t0042 a0001c0004t0052 a0001c0004t0055 a0001c0004t0056 a0001c0016t0005 a0002c0003t0006 a0002c0003t0007 a0002c0003t0029 a0002c0003t0070 a0002c0005t0009 a0002c0005t0016 a0002c0005t0025 a0002c0005t0051 a0002c0005t0064 a0003c0008t0011 a0003c0008t0039 a0003c0011t0001 a0005c0013t0074	a0001c0001t0001g0085 a0001c0002t0012g0193 a0001c0002t0037g0300 others(44): Show a0001c0001t0001g0085 a0001c0002t0012g0193 a0001c0002t0037g0300 a0001c0002t0063g0254 a0001c0004t0001g0111 a0001c0004t0001g0122 a0001c0004t0002g0178 a0001c0004t0002g0184 a0001c0004t0011g0051 a0001c0004t0011g0116 a0001c0004t0011g0119 a0001c0004t0014g0251 a0001c0004t0014g0257 a0001c0004t0014g0260 a0001c0004t0014g0263 a0001c0004t0014g0276 a0001c0004t0014g0283 a0001c0004t0033g0227 a0001c0004t0042g0012 a0001c0004t0052g0148 a0001c0004t0055g0212 a0001c0004t0056g0211 a0001c0016t0005g0207 a0002c0003t0006g0174 a0002c0003t0007g0277 a0002c0003t0029g0151 a0002c0003t0029g0192 a0002c0003t0070g0298 a0002c0005t0009g0132 a0002c0005t0009g0155 a0002c0005t0009g0158 a0002c0005t0009g0189 a0002c0005t0009g0190 a0002c0005t0009g0195 a0002c0005t0016g0047 a0002c0005t0016g0078 a0002c0005t0016g0125 a0002c0005t0025g0247 a0002c0005t0025g0252 a0002c0005t0025g0255 a0002c0005t0051g0160 a0002c0005t0064g0245 a0003c0008t0011g0015 a0003c0008t0011g0022 a0003c0008t0039g0004 a0003c0011t0001g0019 a0005c0013t0074g0314	47	318	0.1478	-27	c.187 others(44): Show c.1879-620_1879-594delCTGTATGTTGTGATGGTCGTGAGGGCT		EPB41L4B	ENSG00000095203.15	transcript	ENST00000374566.8	protein_coding	18/25						chr9	TogoVar
EPCAM_chr2_47364311_47392020	47365510	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG03139.hp2 HG03516.hp1 HG00609.hp1 HG03139.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0016 a0001c0001t0001g0135 a0001c0001t0001g0136	3	450	0.0067	-27	c.-39 others(38): Show c.-3995_-3969delTATATATATATATATATATATATATTT		EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding					3800		chr2	TogoVar
EPCAM_chr2_47364311_47392020	47365512	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 NA18612.hp2 NA18952.hp1 others(9): Show HG01175.hp1 NA18612.hp2 NA18952.hp1 NA18970.hp1 NA18984.hp2 NA18989.hp2 NA18993.hp1 NA19005.hp1 NA19064.hp2 NA19067.hp2 NA19083.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0010 a0001c0001t0001 a0001c0001t0007 a0001c0001t0010	a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0054 others(9): Show a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0007g0093 a0001c0001t0007g0102 a0001c0001t0010g0020	12	450	0.0267	-27	c.-39 others(38): Show c.-3993_-3967delTATATATATATATATATATATATTTTT		EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding					3798		chr2	TogoVar
EPHA10_chr1_37710976_37770120	37732863	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0003 a0004c0003t0003	a0004c0003t0003g0269 a0004c0003t0003g0269	1	382	0.0026	-27	c.149 others(46): Show c.1492-1308_1492-1282delAAAAAAAAAAAAAAAAAAAAAAAAAA A		EPHA10	ENSG00000183317.17	transcript	ENST00000373048.9	protein_coding	6/16						chr1	TogoVar
EPHA3_chr3_89102621_89487134	89211725	TTTCTTCT others(20): Show TTTCTTCTTCTTCTTCTCCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00609.hp2 HG01081.hp1 others(12): Show HG00323.hp1 HG00609.hp2 HG01081.hp1 HG01109.hp1 HG01515.hp2 HG02165.hp2 HG02258.hp1 HG02615.hp1 HG02735.hp1 HG02818.hp2 NA18969.hp1 NA19043.hp2 NA19079.hp1 NA19080.hp1 NA20905.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0002c0003 others(2): Show a0001c0001 a0002c0002 a0002c0003 a0002c0013 a0005c0009	a0001c0001t0001 a0001c0001t0010 a0002c0002t0002 others(4): Show a0001c0001t0001 a0001c0001t0010 a0002c0002t0002 a0002c0002t0004 a0002c0003t0003 a0002c0013t0005 a0005c0009t0002	a0001c0001t0001g0054 a0001c0001t0001g0118 a0001c0001t0001g0123 others(12): Show a0001c0001t0001g0054 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0179 a0001c0001t0001g0192 a0001c0001t0001g0200 a0001c0001t0010g0099 a0002c0002t0002g0068 a0002c0002t0004g0182 a0002c0003t0003g0023 a0002c0003t0003g0100 a0002c0003t0003g0117 a0002c0003t0003g0183 a0002c0013t0005g0036 a0005c0009t0002g0052	15	200	0.0750	-27	c.814 others(44): Show c.814+1222_814+1248delCCTTCTTCTTCTTCTTCTTCTTCTTCT		EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA4_chr2_221413027_221577304	221566875	AAGGAGAA others(20): Show AAGGAGAAGGAGAAGGAGAAGGAGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02300.hp2 HG03654.hp1 others(5): Show HG00544.hp1 HG02300.hp2 HG03654.hp1 NA18981.hp1 NA19030.hp1 NA19063.hp2 NA19066.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0021 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0021 a0001c0001t0041 a0001c0012t0018	a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0121 others(5): Show a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0121 a0001c0001t0001g0283 a0001c0001t0002g0067 a0001c0001t0021g0083 a0001c0001t0041g0122 a0001c0012t0018g0272	8	294	0.0272	-27	c.159 others(44): Show c.159+1816_159+1842delCCTTCTCCTTCTCCTTCTCCTTCTCCT		EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	2/17						chr2	TogoVar
EPHA4_chr2_221413027_221577304	221566930	AGGAGAAG others(20): Show AGGAGAAGGAGAAGGAGAAGGAGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0279 a0001c0001t0003g0279	1	294	0.0034	-27	c.159 others(44): Show c.159+1761_159+1787delCCCTTCTCCTTCTCCTTCTCCTTCTCC		EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	2/17						chr2	TogoVar
EPHA5_chr4_65314567_65675489	65465533	AAAGGAAA others(20): Show AAAGGAAAGGAAGGAAAGGAAGGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02886.hp2 HG02723.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0003t0017 a0001c0001t0006 a0001c0003t0017	a0001c0001t0006g0108 a0001c0003t0017g0130 a0001c0001t0006g0108 a0001c0003t0017g0130	2	234	0.0086	-27	c.140 others(48): Show c.1402+24817_1402+24843delCCTTTCCTTCCTTTCCTTCCTTTC CTT		EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	5/16						chr4	TogoVar
EPHA5_chr4_65314567_65675489	65576042	GAAAGAAA others(20): Show GAAAGAAAGAAAGAAAGAAAAGAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp1 NA18968.hp1 others(2): Show HG00738.hp1 HG00741.hp1 NA18968.hp1 NA19064.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0003t0003	a0001c0001t0003g0031 a0001c0001t0004g0029 a0001c0002t0001g0032 others(2): Show a0001c0001t0003g0031 a0001c0001t0004g0029 a0001c0002t0001g0032 a0001c0003t0003g0132 a0001c0003t0003g0137	5	234	0.0214	-27	c.910 others(46): Show c.910+25572_910+25598delTCTTTTCTTTTCTTTCTTTCTTTCTT T		EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16						chr4	TogoVar
EPHB1_chr3_134790260_135265467	134959966	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02109.hp2 HG02559.hp2 others(7): Show HG01123.hp1 HG02109.hp2 HG02559.hp2 HG02717.hp2 HG03017.hp2 HG03486.hp1 HG03927.hp1 HG04115.hp1 NA19030.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0003t0005 a0001c0004t0002 a0001c0006t0026 a0001c0007t0009 a0001c0011t0023	a0001c0001t0001g0040 a0001c0001t0001g0055 a0001c0001t0002g0120 others(7): Show a0001c0001t0001g0040 a0001c0001t0001g0055 a0001c0001t0002g0120 a0001c0001t0005g0102 a0001c0001t0007g0027 a0001c0003t0005g0099 a0001c0004t0002g0077 a0001c0006t0026g0117 a0001c0007t0009g0028 a0001c0011t0023g0115	10	134	0.0746	-27	c.805 others(44): Show c.805+7930_805+7956delTTTTTTTTTTTTTTTTTTTTTTTTTTT		EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHB1_chr3_134790260_135265467	134972487	CATTATAT others(20): Show CATTATATATTTATTATAAATATATATT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp2 HG00673.hp1 others(67): Show HG00323.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01243.hp1 HG01243.hp2 HG01433.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02109.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03540.hp1 HG03688.hp1 HG03834.hp1 HG03927.hp1 HG04115.hp1 HG04199.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA19030.hp2 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0011 a0001c0013 a0001c0015 a0001c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0021 a0001c0001t0024 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0006 a0001c0003t0007 a0001c0003t0011 a0001c0003t0020 a0001c0004t0001 a0001c0004t0002 a0001c0004t0009 a0001c0004t0014 a0001c0005t0001 a0001c0006t0001 a0001c0006t0012 a0001c0006t0022 a0001c0006t0026 a0001c0007t0003 a0001c0007t0007 a0001c0008t0008 a0001c0011t0023 a0001c0013t0001 a0001c0015t0008 a0001c0016t0001	a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0051 others(67): Show a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0065 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0126 a0001c0001t0002g0005 a0001c0001t0002g0046 a0001c0001t0002g0050 a0001c0001t0002g0070 a0001c0001t0002g0079 a0001c0001t0002g0091 a0001c0001t0003g0053 a0001c0001t0003g0083 a0001c0001t0003g0090 a0001c0001t0005g0101 a0001c0001t0005g0102 a0001c0001t0009g0042 a0001c0001t0012g0076 a0001c0001t0014g0029 a0001c0001t0015g0109 a0001c0001t0017g0059 a0001c0001t0021g0058 a0001c0001t0024g0107 a0001c0002t0001g0087 a0001c0002t0001g0123 a0001c0002t0002g0011 a0001c0003t0001g0016 a0001c0003t0001g0048 a0001c0003t0001g0049 a0001c0003t0001g0057 a0001c0003t0001g0089 a0001c0003t0002g0008 a0001c0003t0002g0014 a0001c0003t0002g0017 a0001c0003t0002g0060 a0001c0003t0002g0088 a0001c0003t0002g0094 a0001c0003t0003g0006 a0001c0003t0003g0054 a0001c0003t0004g0106 a0001c0003t0004g0113 a0001c0003t0005g0099 a0001c0003t0006g0063 a0001c0003t0007g0044 a0001c0003t0011g0100 a0001c0003t0020g0124 a0001c0004t0001g0010 a0001c0004t0001g0022 a0001c0004t0001g0045 a0001c0004t0001g0128 a0001c0004t0002g0037 a0001c0004t0002g0077 a0001c0004t0002g0093 a0001c0004t0009g0023 a0001c0004t0014g0018 a0001c0005t0001g0025 a0001c0006t0001g0086 a0001c0006t0012g0085 a0001c0006t0022g0019 a0001c0006t0026g0117 a0001c0007t0003g0068 a0001c0007t0007g0043 a0001c0008t0008g0024 a0001c0011t0023g0115 a0001c0013t0001g0007 a0001c0015t0008g0013 a0001c0016t0001g0071	70	134	0.5224	-27	c.805 others(46): Show c.805+20473_805+20499delTATTATAAATATATATTATTATATAT T		EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr3	TogoVar
EPM2A_chr6_145620305_145740520	145651258	ATACAATT others(20): Show ATACAATTTGTCTTGAAGTAAGGAATTC	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0025 a0001c0001t0003g0025	1	320	0.0031	-27	c.477 others(46): Show c.477-15799_477-15773delGAATTCCTTACTTCAAGACAAATTGT A		EPM2A	ENSG00000112425.16	transcript	ENST00000367519.9	protein_coding	2/3						chr6	TogoVar
EPS8L2_chr11_701231_732727	702124	GGGGAAGG others(20): Show GGGGAAGGGTGGCCCCCACCCTTCCTCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0365 a0002c0009t0001g0365	1	406	0.0025	-27	c.-42 others(38): Show c.-4242_-4216delGGGAAGGGTGGCCCCCACCCTTCCTCT		EPS8L2	ENSG00000177106.17	transcript	ENST00000318562.13	protein_coding					4106		chr11	TogoVar
EQTN_chr9_27279654_27302150	27294998	CTCCTCTC others(20): Show CTCCTCTCTCCAAAATTTCATAAGATGA	C C	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	446	0.0022	-27	c.203 others(42): Show c.203-623_203-597delTCATCTTATGAAATTTTGGAGAGAGGA		EQTN	ENSG00000120160.11	transcript	ENST00000380032.8	protein_coding	2/7						chr9	TogoVar
ERAL1_chr17_28850016_28866061	28861979	GATCTGTC others(20): Show GATCTGTCCCTCAAGCTGCTTGCCTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	380	0.0026	-27	c.14 others(38): Show c.1427_*1453delATCTGTCCCTCAAGCTGCTTGCCTTTT		ERAL1	ENSG00000132591.12	transcript	ENST00000254928.10	protein_coding					919		chr17	TogoVar
ERBB4_chr2_211370717_212543802	211425354	AAATATAA others(20): Show AAATATAAAACTATGTGGAATTTAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01496.hp1 HG02258.hp1 others(11): Show HG01192.hp1 HG01496.hp1 HG02258.hp1 HG02258.hp2 HG02615.hp1 HG02922.hp2 HG02965.hp1 HG03195.hp1 HG03225.hp2 HG03516.hp1 HG03579.hp1 NA18906.hp2 NA19030.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(6): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0017 a0001c0001t0028 a0001c0002t0001	a0001c0001t0001g0021 a0001c0001t0001g0045 a0001c0001t0006g0026 others(11): Show a0001c0001t0001g0021 a0001c0001t0001g0045 a0001c0001t0006g0026 a0001c0001t0008g0004 a0001c0001t0008g0013 a0001c0001t0009g0023 a0001c0001t0009g0046 a0001c0001t0010g0005 a0001c0001t0011g0041 a0001c0001t0011g0042 a0001c0001t0017g0029 a0001c0001t0028g0053 a0001c0002t0001g0036 a0001c0002t0001g0048	14	56	0.2500	-27	c.272 others(46): Show c.2720-1080_2720-1054delATTTTAAATTCCACATAGTTTTATAT T		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	22/27						chr2	TogoVar
ERBB4_chr2_211370717_212543802	211861022	ATATATAA others(20): Show ATATATAAATATAATATATTTATATATT	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0033 a0001c0001t0004g0033	1	56	0.0179	-27	c.422 others(46): Show c.422-72890_422-72864delAATATATAAATATATTATATTTATAT A		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	3/27						chr2	TogoVar
ERBB4_chr2_211370717_212543802	212015085	TATATATA others(20): Show TATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0044 a0001c0001t0005g0044	1	56	0.0179	-27	c.235 others(46): Show c.235-67496_235-67470delTATATATATATATATATATATATATA T		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	2/27						chr2	TogoVar
ERBB4_chr2_211370717_212543802	212191525	ACCTGTTA others(20): Show ACCTGTTATATATAACACATGTGTTATG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03486.hp1 HG03516.hp1 others(1): Show HG02145.hp1 HG03486.hp1 HG03516.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0001t0012 a0001c0002t0001 a0001c0001t0009 a0001c0001t0012 a0001c0002t0001	a0001c0001t0009g0023 a0001c0001t0012g0001 a0001c0002t0001g0020 others(1): Show a0001c0001t0009g0023 a0001c0001t0012g0001 a0001c0002t0001g0020 a0001c0002t0001g0036	4	56	0.0714	-27	c.83- others(44): Show c.83-66649_83-66623delCATAACACATGTGTTATATATAACAGG		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27						chr2	TogoVar
ERBIN_chr5_65921575_66087546	65939507	TCCCTCTC others(20): Show TCCCTCTCCCTCTCCCTTTCCCTCTCCC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02109.hp1 HG02258.hp1 others(13): Show HG01167.hp2 HG02109.hp1 HG02258.hp1 HG02451.hp2 HG02572.hp1 HG02723.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG03041.hp1 HG03139.hp2 HG03209.hp2 HG03471.hp1 HG03486.hp2 HG03579.hp2	a0004 a0004	a0004c0005 a0004c0014 a0004c0017 a0004c0005 a0004c0014 a0004c0017	a0004c0005t0004 a0004c0005t0025 a0004c0014t0004 others(1): Show a0004c0005t0004 a0004c0005t0025 a0004c0014t0004 a0004c0017t0004	a0004c0005t0004g0007 a0004c0005t0004g0008 a0004c0005t0004g0009 others(13): Show a0004c0005t0004g0007 a0004c0005t0004g0008 a0004c0005t0004g0009 a0004c0005t0004g0010 a0004c0005t0004g0013 a0004c0005t0004g0014 a0004c0005t0004g0015 a0004c0005t0004g0016 a0004c0005t0004g0017 a0004c0005t0004g0019 a0004c0005t0004g0020 a0004c0005t0004g0021 a0004c0005t0004g0027 a0004c0005t0025g0012 a0004c0014t0004g0018 a0004c0017t0004g0011	16	306	0.0523	-27	c.-58 others(46): Show c.-58+12717_-58+12743delTTTCCCTCTCCCCCCTCTCCCTCTCC C		ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	1/25					INFO_REALIGN_3_PRIME	chr5	TogoVar
ERBIN_chr5_65921575_66087546	65965372	GTTTTTTG others(20): Show GTTTTTTGTTGTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02109.hp1 HG02258.hp1 others(10): Show HG01167.hp2 HG02109.hp1 HG02258.hp1 HG02451.hp2 HG02723.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG03209.hp2 HG03471.hp1 HG03486.hp2 HG03579.hp2	a0004 a0004	a0004c0005 a0004c0014 a0004c0017 a0004c0005 a0004c0014 a0004c0017	a0004c0005t0004 a0004c0014t0004 a0004c0017t0004 a0004c0005t0004 a0004c0014t0004 a0004c0017t0004	a0004c0005t0004g0007 a0004c0005t0004g0008 a0004c0005t0004g0010 others(10): Show a0004c0005t0004g0007 a0004c0005t0004g0008 a0004c0005t0004g0010 a0004c0005t0004g0013 a0004c0005t0004g0014 a0004c0005t0004g0015 a0004c0005t0004g0016 a0004c0005t0004g0017 a0004c0005t0004g0019 a0004c0005t0004g0020 a0004c0005t0004g0021 a0004c0014t0004g0018 a0004c0017t0004g0011	13	306	0.0425	-27	c.-57 others(46): Show c.-57-23256_-57-23230delGTTGTTTTTTTTTTTTTTTTTTTTTT T		ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	1/25					INFO_REALIGN_3_PRIME	chr5	TogoVar
ERBIN_chr5_65921575_66087546	65965382	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18981.hp1 NA18971.hp2 NA18981.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0003 a0006c0008t0018 a0006c0008t0003 a0006c0008t0018	a0006c0008t0003g0194 a0006c0008t0018g0190 a0006c0008t0003g0194 a0006c0008t0018g0190	2	306	0.0065	-27	c.-57 others(46): Show c.-57-23238_-57-23212delTTTTTTTTTTTTTTTTTTTTTTTTTT T		ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	1/25					INFO_REALIGN_3_PRIME	chr5	TogoVar
ERC2_chr3_55503311_56473467	55720131	CTCTTCTT others(20): Show CTCTTCTTCTTCCTCTTCTTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0070 a0001c0001t0003g0070	1	74	0.0135	-27	c.271 others(48): Show c.2712+14613_2712+14639delAGAAGAAGAAGAAGAGGAAGAAGA AGA		ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	15/17						chr3	TogoVar
ERC2_chr3_55503311_56473467	56299112	TTTTTTTG others(20): Show TTTTTTTGTTTTTTTTTTTGTTTGTTTG	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03195.hp1 HG02630.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0014 a0001c0002t0001g0042 a0001c0002t0001g0014 a0001c0002t0001g0042	2	74	0.0270	-27	c.658 others(44): Show c.658-2704_658-2678delCAAACAAACAAAAAAAAAAACAAAAAA		ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	2/17						chr3	TogoVar
ERCC8_chr5_60861454_60950070	60938065	ATATATAT others(20): Show ATATATATATATATATATATATTTTATT	A A	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0043 a0001c0001t0003g0043	1	302	0.0033	-27	c.77+ others(42): Show c.77+6840_77+6866delAATAAAATATATATATATATATATATA		ERCC8	ENSG00000049167.16	transcript	ENST00000676185.1	protein_coding	1/11						chr5	TogoVar
ERFL_chr19_41902704_41933449	41914629	GTCTCTGT others(20): Show GTCTCTGTCTCTCCCTCCCTTTCCACCA	G G	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0266 a0001c0001t0003g0266	1	330	0.0030	-27	c.-13 others(44): Show c.-13-1724_-13-1698delTGGTGGAAAGGGAGGGAGAGACAGAGA		ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5						chr19	TogoVar
ERFL_chr19_41902704_41933449	41921529	CCGAGGTG others(20): Show CCGAGGTGGGGAAACACGGCAGAAGGAG	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02486.hp2 HG03139.hp2 others(2): Show HG02257.hp2 HG02486.hp2 HG03139.hp2 HG03579.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0007 a0001c0002t0002g0198 a0001c0002t0002g0199 a0001c0002t0002g0007 a0001c0002t0002g0198 a0001c0002t0002g0199	5	330	0.0152	-27	c.-14 others(44): Show c.-14+6484_-14+6510delCTCCTTCTGCCGTGTTTCCCCACCTCG		ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5						chr19	TogoVar
ERGIC3_chr20_35537078_35562634	35539228	TTATATAT others(20): Show TTATATATATAATATATATAACAGTTTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG02818.hp2 HG01081.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	2	364	0.0055	-27	c.-28 others(38): Show c.-2869_-2843delTATATATATAATATATATAACAGTTTA		ERGIC3	ENSG00000125991.21	transcript	ENST00000348547.7	protein_coding					2849		chr20	TogoVar
ERGIC3_chr20_35537078_35562634	35539489	AACAGTTT others(20): Show AACAGTTTATATATATAATATATATAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	364	0.0028	-27	c.-26 others(38): Show c.-2608_-2582delACAGTTTATATATATAATATATATAAC		ERGIC3	ENSG00000125991.21	transcript	ENST00000348547.7	protein_coding					2588		chr20	TogoVar
ERGIC3_chr20_35537078_35562634	35539545	TTATATAT others(20): Show TTATATATATAATATATATAACAGTTTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG01168.hp1 others(2): Show HG00099.hp2 HG00639.hp2 HG01168.hp1 HG03017.hp1 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0026 a0001c0002t0001g0123 a0001c0002t0001g0179 a0001c0002t0001g0026 a0001c0002t0001g0123 a0001c0002t0001g0179	5	364	0.0137	-27	c.-25 others(38): Show c.-2552_-2526delTATATATATAATATATATAACAGTTTA		ERGIC3	ENSG00000125991.21	transcript	ENST00000348547.7	protein_coding					2532		chr20	TogoVar
ERGIC3_chr20_35537078_35562634	35539580	AAAATATA others(20): Show AAAATATATAACAGTTTATATATATAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01261.hp2 HG02895.hp2 others(1): Show HG01109.hp1 HG01261.hp2 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0049 a0001c0003t0001g0050 a0001c0003t0001g0049 a0001c0003t0001g0050	4	364	0.0110	-27	c.-25 others(38): Show c.-2517_-2491delAAATATATAACAGTTTATATATATAAT		ERGIC3	ENSG00000125991.21	transcript	ENST00000348547.7	protein_coding					2497		chr20	TogoVar
ERI3_chr1_44216070_44360257	44342830	TATATATA others(20): Show TATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0334 a0001c0001t0001g0334	1	340	0.0029	-27	c.212 others(44): Show c.212-3535_212-3509delTATATATATATATATATATATATATAT		ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	2/8						chr1	TogoVar
ERI3_chr1_44216070_44360257	44342835	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	340	0.0029	-27	c.212 others(44): Show c.212-3540_212-3514delAAAAATATATATATATATATATATATA		ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	2/8						chr1	TogoVar
ERI3_chr1_44216070_44360257	44342839	ATATATAT others(20): Show ATATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	340	0.0029	-27	c.212 others(44): Show c.212-3544_212-3518delAAAAAAAAATATATATATATATATATA		ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	2/8						chr1	TogoVar

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