JoGo: Joint Open Genome and Omics Platform

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
EBF1_chr5_158690920_159104916	158840655	TTTTTTTT others(11): Show TTTTTTTTTTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02723.hp2 HG03471.hp1 HG02451.hp1 HG02723.hp2 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0001c0001t0008 a0002c0003t0046 a0001c0001t0002 a0001c0001t0008 a0002c0003t0046	a0001c0001t0002g0175 a0001c0001t0008g0183 a0002c0003t0046g0033 a0001c0001t0002g0175 a0001c0001t0008g0183 a0002c0003t0046g0033	3	196	0.0153	-18	c.555 others(33): Show c.555-563_555-546delCAAAAAAAAAAAAAAAAA	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15			chr5	TogoVar
EBF1_chr5_158690920_159104916	158851555	GAGGGGAG others(11): Show GAGGGGAGGGAAAAAGGGA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00544.hp2 others(68): Show HG00140.hp2 HG00408.hp1 HG00544.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01106.hp2 HG01109.hp1 HG01257.hp2 HG01261.hp1 HG01346.hp2 HG01515.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02129.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02451.hp1 HG02523.hp2 HG02572.hp1 HG02622.hp1 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp2 HG03139.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03710.hp2 NA18522.hp1 NA18906.hp1 NA18942.hp1 NA18944.hp2 NA18949.hp1 NA18963.hp1 NA18966.hp2 NA18969.hp2 NA19009.hp2 NA19068.hp1 NA19068.hp2 NA19079.hp2 NA19084.hp1 NA19085.hp1 NA19090.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(41): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0039 a0001c0001t0058 a0001c0001t0068 a0001c0001t0072 a0001c0001t0077 a0001c0001t0088 a0001c0001t0093 a0001c0001t0095 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0009 a0001c0002t0012 a0001c0002t0013 a0001c0002t0018 a0001c0002t0026 a0001c0002t0034 a0001c0002t0035 a0001c0002t0038 a0001c0002t0041 a0001c0002t0048 a0001c0002t0059 a0001c0002t0060 a0001c0002t0061 a0001c0002t0062 a0001c0002t0076 a0001c0002t0083 a0001c0002t0084 a0001c0002t0089 a0001c0004t0004 a0002c0003t0046	a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0180 others(68): Show a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0180 a0001c0001t0002g0150 a0001c0001t0002g0155 a0001c0001t0002g0175 a0001c0001t0003g0105 a0001c0001t0003g0148 a0001c0001t0006g0019 a0001c0001t0007g0066 a0001c0001t0008g0183 a0001c0001t0012g0021 a0001c0001t0015g0034 a0001c0001t0016g0036 a0001c0001t0018g0085 a0001c0001t0039g0030 a0001c0001t0058g0051 a0001c0001t0068g0062 a0001c0001t0072g0069 a0001c0001t0077g0088 a0001c0001t0088g0190 a0001c0001t0093g0195 a0001c0001t0095g0196 a0001c0002t0001g0109 a0001c0002t0001g0131 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0141 a0001c0002t0001g0158 a0001c0002t0001g0161 a0001c0002t0001g0170 a0001c0002t0002g0089 a0001c0002t0002g0173 a0001c0002t0003g0090 a0001c0002t0003g0093 a0001c0002t0003g0130 a0001c0002t0003g0151 a0001c0002t0005g0115 a0001c0002t0005g0122 a0001c0002t0005g0128 a0001c0002t0005g0143 a0001c0002t0005g0165 a0001c0002t0006g0015 a0001c0002t0006g0017 a0001c0002t0006g0020 a0001c0002t0006g0025 a0001c0002t0007g0059 a0001c0002t0007g0076 a0001c0002t0007g0083 a0001c0002t0007g0084 a0001c0002t0009g0079 a0001c0002t0012g0023 a0001c0002t0013g0001 a0001c0002t0013g0002 a0001c0002t0018g0086 a0001c0002t0026g0103 a0001c0002t0034g0008 a0001c0002t0035g0016 a0001c0002t0038g0014 a0001c0002t0041g0028 a0001c0002t0048g0032 a0001c0002t0059g0052 a0001c0002t0060g0053 a0001c0002t0061g0055 a0001c0002t0062g0054 a0001c0002t0076g0087 a0001c0002t0083g0118 a0001c0002t0084g0111 a0001c0002t0089g0187 a0001c0004t0004g0171 a0002c0003t0046g0033	71	196	0.3622	-18	c.555 others(37): Show c.555-11463_555-11446delTCCCTTTTTCCCTCCCCT	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15			chr5	TogoVar
EBF1_chr5_158690920_159104916	158866827	GTATATGT others(11): Show GTATATGTATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0035 a0001c0001t0015g0035	1	196	0.0051	-18	c.555 others(37): Show c.555-26735_555-26718delTATATATATATACATATA	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15			chr5	TogoVar
EBF1_chr5_158690920_159104916	158866833	GTATATAT others(11): Show GTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02486.hp1 HG02717.hp1 others(2): Show HG00280.hp2 HG02486.hp1 HG02717.hp1 HG03453.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0063 a0001c0001t0065 others(2): Show a0001c0001t0001 a0001c0001t0063 a0001c0001t0065 a0001c0001t0088 a0001c0001t0094	a0001c0001t0001g0107 a0001c0001t0063g0057 a0001c0001t0065g0058 others(2): Show a0001c0001t0001g0107 a0001c0001t0063g0057 a0001c0001t0065g0058 a0001c0001t0088g0190 a0001c0001t0094g0194	5	196	0.0255	-18	c.555 others(37): Show c.555-26741_555-26724delTATATATATATATATATA	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15			chr5	TogoVar
EBF1_chr5_158690920_159104916	159098877	GAAAGAAA others(11): Show GAAAGAAAAAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03579.hp2 NA18906.hp2 others(1): Show HG02723.hp2 HG03579.hp2 NA18906.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0045 a0001c0001t0051 a0001c0002t0048 others(1): Show a0001c0001t0045 a0001c0001t0051 a0001c0002t0048 a0002c0003t0046	a0001c0001t0045g0031 a0001c0001t0051g0042 a0001c0002t0048g0032 others(1): Show a0001c0001t0045g0031 a0001c0001t0051g0042 a0001c0002t0048g0032 a0002c0003t0046g0033	4	196	0.0204	-18	c.134 others(33): Show c.134+450_134+467delTTCTTTCTTTTTTTCTTT	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	1/15			chr5	TogoVar
EBF2_chr8_25836725_26050413	25838188	GCTCTCTC others(11): Show GCTCTCTCTCTCTCTCTCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02572.hp1 HG02965.hp1 others(3): Show HG02257.hp2 HG02572.hp1 HG02965.hp1 HG03209.hp2 HG03516.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0001t0019 a0001c0001t0027 others(3): Show a0001c0001t0003 a0001c0001t0019 a0001c0001t0027 a0001c0001t0036 a0001c0001t0039 a0001c0004t0003	a0001c0001t0003g0200 a0001c0001t0019g0009 a0001c0001t0027g0103 others(3): Show a0001c0001t0003g0200 a0001c0001t0019g0009 a0001c0001t0027g0103 a0001c0001t0036g0159 a0001c0001t0039g0211 a0001c0004t0003g0217	6	220	0.0273	-18	c.64 others(29): Show c.6403_*6420delAGAGAGAGAGAGAGAGAG	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding		3536		chr8	TogoVar
EBF2_chr8_25836725_26050413	25934224	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01081.hp1 HG01081.hp2 others(7): Show HG00438.hp1 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01255.hp2 HG02055.hp1 HG02145.hp1 HG03942.hp1 NA19082.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0021 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0021 a0001c0002t0001 a0001c0002t0017 a0001c0002t0023 a0001c0002t0025	a0001c0001t0001g0019 a0001c0001t0003g0180 a0001c0001t0003g0185 others(7): Show a0001c0001t0001g0019 a0001c0001t0003g0180 a0001c0001t0003g0185 a0001c0001t0003g0207 a0001c0001t0021g0020 a0001c0002t0001g0038 a0001c0002t0001g0149 a0001c0002t0017g0001 a0001c0002t0023g0057 a0001c0002t0025g0018	10	220	0.0455	-18	c.552 others(37): Show c.552-25687_552-25670delGTGTGTGTGTGTGTGTGT	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EBF2_chr8_25836725_26050413	26039473	TGAGAAAC others(11): Show TGAGAAACTCCCCCGACAC	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0163 a0001c0001t0006g0163	1	220	0.0046	-18	c.482 others(33): Show c.482+537_482+554delGTGTCGGGGGAGTTTCTC	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	5/15			chr8	TogoVar
EBF3_chr10_129830233_129969274	129844195	CCGGTCTA others(11): Show CCGGTCTAGGAGAGCTCTG	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02886.hp1 HG02615.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0055 a0001c0001t0007 a0001c0001t0055	a0001c0001t0007g0272 a0001c0001t0055g0334 a0001c0001t0007g0272 a0001c0001t0055g0334	2	338	0.0059	-18	c.112 others(36): Show c.1129-1011_1129-994delCAGAGCTCTCCTAGACCG	EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	11/16			chr10	TogoVar
EBF3_chr10_129830233_129969274	129880477	GCACATAC others(11): Show GCACATACATATGCACACA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01934.hp1 HG01934.hp2 others(3): Show HG00639.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp2 HG02148.hp1 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0062 a0001c0001t0002g0043 a0001c0001t0002g0066 others(3): Show a0001c0001t0001g0062 a0001c0001t0002g0043 a0001c0001t0002g0066 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0206	6	338	0.0178	-18	c.555 others(35): Show c.555-2646_555-2629delTGTGTGCATATGTATGTG	EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	6/16			chr10	TogoVar
EBF4_chr20_2687780_2765108	2705785	CCACACAC others(11): Show CCACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03041.hp1 HG03516.hp2 others(2): Show HG02965.hp2 HG03041.hp1 HG03516.hp2 HG06807.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007	a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 others(1): Show a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0001c0007t0001	a0001c0001t0002g0042 a0001c0002t0001g0294 a0001c0003t0001g0173 others(2): Show a0001c0001t0002g0042 a0001c0002t0001g0294 a0001c0003t0001g0173 a0001c0007t0001g0009 a0001c0007t0001g0151	5	388	0.0129	-18	c.294 others(32): Show c.294+88_294+105delACACACACACACACACAC	EBF4	ENSG00000088881.22	transcript	ENST00000609451.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr20	TogoVar
EBI3_chr19_4224523_4242528	4239509	CACACCTG others(11): Show CACACCTGTAGCTCCAGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp2 NA19065.hp1 NA18939.hp2 NA19065.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0011 a0002c0002t0002g0068 a0002c0002t0002g0011 a0002c0002t0002g0068	2	438	0.0046	-18	c.24 others(29): Show c.2422_*2439delACACCTGTAGCTCCAGCT	EBI3	ENSG00000105246.6	transcript	ENST00000221847.6	protein_coding		1982		chr19	TogoVar
ECE1_chr1_21212250_21295463	21273338	CGTGTGTG others(11): Show CGTGTGTGCGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01175.hp1 HG02055.hp1 others(31): Show HG01081.hp2 HG01175.hp1 HG02055.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03098.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03669.hp2 HG03704.hp1 HG04199.hp1 HG06807.hp1 NA18522.hp2 NA18941.hp2 NA18947.hp2 NA18954.hp1 NA18960.hp2 NA19043.hp1 NA19060.hp1 NA19063.hp1 NA19068.hp2 NA19079.hp2 NA19083.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0033 a0001c0002t0004 a0001c0002t0005 a0001c0002t0010 a0001c0007t0004	a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0092 others(31): Show a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0182 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0002g0105 a0001c0001t0002g0272 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0106 a0001c0001t0003g0200 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0008g0204 a0001c0001t0008g0247 a0001c0001t0008g0248 a0001c0001t0033g0091 a0001c0002t0004g0214 a0001c0002t0005g0104 a0001c0002t0005g0205 a0001c0002t0005g0231 a0001c0002t0005g0232 a0001c0002t0010g0213 a0001c0007t0004g0215	34	304	0.1118	-18	c.281 others(33): Show c.281-445_281-428delACACACACACGCACACAC	ECE1	ENSG00000117298.16	transcript	ENST00000374893.11	protein_coding	3/18			chr1	TogoVar
ECE2_chr3_184271022_184298031	184274763	GAAAGAAA others(11): Show GAAAGAAAGAAAGAAAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 NA20752.hp1 HG02683.hp2 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	2	398	0.0050	-18	c.-13 others(29): Show c.-1390_-1373delAAAGAAAGAAAGAAAGAA	ECE2	ENSG00000145194.19	transcript	ENST00000404464.8	protein_coding		1258		chr3	TogoVar
ECE2_chr3_184271022_184298031	184283561	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0147 a0001c0002t0001g0147	1	398	0.0025	-18	c.817 others(33): Show c.817-211_817-194delAAAAAAAAAAAAAAAAAA	ECE2	ENSG00000145194.19	transcript	ENST00000404464.8	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr3	TogoVar
ECHDC1_chr6_127283712_127348609	127309480	AACACACA others(11): Show AACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00733.hp2 others(18): Show HG00423.hp2 HG00438.hp2 HG00733.hp2 HG02109.hp1 HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG03225.hp2 HG03471.hp2 HG03927.hp1 HG04115.hp2 NA18953.hp1 NA18979.hp1 NA18982.hp2 NA18995.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0001 a0001c0001t0004 a0001c0001t0007	a0001c0001t0001g0010 a0001c0001t0001g0028 a0001c0001t0001g0029 others(13): Show a0001c0001t0001g0010 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0134 a0001c0001t0001g0159 a0001c0001t0001g0173 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0004g0039 a0001c0001t0007g0178	21	358	0.0587	-18	c.497 others(35): Show c.497+5318_497+5335delGTGTGTGTGTGTGTGTGT	ECHDC1	ENSG00000093144.19	transcript	ENST00000454859.8	protein_coding	5/5			chr6	TogoVar
ECHDC1_chr6_127283712_127348609	127333666	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00423.hp2 others(87): Show HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00673.hp2 HG01099.hp2 HG01123.hp1 HG01192.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01433.hp2 HG01496.hp2 HG01884.hp1 HG01928.hp1 HG01943.hp2 HG01993.hp1 HG02004.hp1 HG02055.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02148.hp1 HG02155.hp1 HG02257.hp2 HG02258.hp1 HG02615.hp2 HG02630.hp2 HG02896.hp2 HG02976.hp1 HG03098.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03834.hp1 HG03942.hp1 HG06807.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp2 NA18945.hp1 NA18946.hp2 NA18948.hp1 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18959.hp2 NA18962.hp1 NA18965.hp2 NA18967.hp1 NA18972.hp2 NA18973.hp1 NA18979.hp1 NA18988.hp1 NA18989.hp2 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19007.hp2 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp2 NA19057.hp1 NA19059.hp1 NA19062.hp1 NA19063.hp2 NA19064.hp1 NA19068.hp2 NA19072.hp1 NA19074.hp1 NA19076.hp1 NA19078.hp1 NA19079.hp1 NA19083.hp1 NA19084.hp2 NA19085.hp1 NA19089.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0008 others(65): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0194 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0004g0012 a0001c0001t0004g0039 a0001c0001t0004g0040 a0001c0001t0005g0021 a0001c0001t0005g0145 a0001c0001t0005g0147 a0001c0001t0008g0223 a0001c0001t0008g0224	90	358	0.2514	-18	c.-2- others(33): Show c.-2-2654_-2-2637delGTGTGTGTGTGTGTGTGT	ECHDC1	ENSG00000093144.19	transcript	ENST00000454859.8	protein_coding	1/5			chr6	TogoVar
ECHDC3_chr10_11737382_11769070	11749773	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0008 a0008	a0008c0016 a0008c0016	a0008c0016t0002 a0008c0016t0002	a0008c0016t0002g0064 a0008c0016t0002g0064	1	420	0.0024	-18	c.390 others(33): Show c.390+204_390+221delTTTTTTTTTTTTTTTTTT	ECHDC3	ENSG00000134463.15	transcript	ENST00000379215.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
ECM2_chr9_92490315_92540990	92533328	AATATATA others(11): Show AATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0006 a0006	a0006c0025 a0006c0025	a0006c0025t0001 a0006c0025t0001	a0006c0025t0001g0128 a0006c0025t0001g0128	1	400	0.0025	-18	c.-28 others(35): Show c.-28+2587_-28+2604delATATATATATATATATAT	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	1/9			chr9	TogoVar
ECPAS_chr9_111355685_111489383	111407403	GAAAAAAA others(11): Show GAAAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA18991.hp1 NA19070.hp1 HG00544.hp2 NA18991.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0013t0001 a0001c0001t0001 a0001c0013t0001	a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0013t0001g0237 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0013t0001g0237	3	354	0.0085	-18	c.265 others(37): Show c.2652+1150_2652+1167delTTTTTTTTTTTTTTTTTT	ECPAS	ENSG00000136813.15	transcript	ENST00000684092.1	protein_coding	24/49			chr9	TogoVar
ECPAS_chr9_111355685_111489383	111421409	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02258.hp2 HG02109.hp2 HG02258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0311 a0002c0002t0004g0312 a0002c0002t0004g0311 a0002c0002t0004g0312	2	354	0.0057	-18	c.145 others(35): Show c.1455+494_1455+511delCACACACACACACACACA	ECPAS	ENSG00000136813.15	transcript	ENST00000684092.1	protein_coding	15/49			chr9	TogoVar
EDARADD_chr1_236389286_236489930	236405907	TTCTTTCT others(11): Show TTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01261.hp2 HG01361.hp2 others(4): Show HG01256.hp1 HG01261.hp2 HG01361.hp2 HG01516.hp1 HG02027.hp2 HG04199.hp1 NA19009.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0002c0007	a0001c0001t0001 a0001c0001t0003 a0001c0004t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0004t0005 a0002c0002t0001 a0002c0007t0023	a0001c0001t0001g0095 a0001c0001t0001g0159 a0001c0001t0003g0192 others(4): Show a0001c0001t0001g0095 a0001c0001t0001g0159 a0001c0001t0003g0192 a0001c0001t0003g0205 a0001c0004t0005g0202 a0002c0002t0001g0268 a0002c0007t0023g0272	7	294	0.0238	-18	c.62- others(33): Show c.62-3302_62-3285delTTTCTTTCTTTCTCTTTC	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDARADD_chr1_236389286_236489930	236480096	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18975.hp1 NA18960.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0004 a0001c0001t0004 a0001c0003t0004	a0001c0001t0004g0080 a0001c0003t0004g0027 a0001c0001t0004g0080 a0001c0003t0004g0027	2	294	0.0068	-18	c.266 others(35): Show c.266-2148_266-2131delATATATATATATATATAT	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDA_chrX_69611113_70044472	69810257	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01123.hp2 HG01167.hp1 others(54): Show HG00423.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01256.hp1 HG01496.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG01981.hp1 HG02004.hp1 HG02015.hp1 HG02040.hp1 HG02080.hp1 HG02132.hp1 HG02148.hp2 HG02559.hp2 HG02622.hp2 HG02922.hp1 HG02965.hp1 HG03041.hp2 HG03098.hp1 HG03491.hp2 HG03579.hp1 HG03831.hp2 HG03834.hp2 NA18522.hp1 NA18747.hp1 NA18944.hp1 NA18945.hp1 NA18951.hp1 NA18953.hp1 NA18961.hp1 NA18962.hp1 NA18966.hp1 NA18970.hp1 NA18971.hp1 NA18977.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18990.hp1 NA19005.hp1 NA19007.hp1 NA19056.hp1 NA19060.hp1 NA19062.hp1 NA19070.hp1 NA19079.hp1 NA19083.hp1 NA19085.hp1 NA19088.hp1 NA19091.hp1 NA20129.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0013 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022	a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0057 others(54): Show a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0122 a0001c0001t0001g0130 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0172 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0002g0029 a0001c0001t0002g0037 a0001c0001t0002g0050 a0001c0001t0002g0064 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0071 a0001c0001t0002g0081 a0001c0001t0002g0105 a0001c0001t0002g0145 a0001c0001t0002g0149 a0001c0001t0002g0155 a0001c0001t0003g0062 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0087 a0001c0001t0003g0093 a0001c0001t0003g0096 a0001c0001t0003g0110 a0001c0001t0003g0147 a0001c0001t0003g0153 a0001c0001t0003g0157 a0001c0001t0004g0194 a0001c0001t0006g0188 a0001c0001t0008g0107 a0001c0001t0013g0138 a0001c0001t0017g0054 a0001c0001t0021g0099 a0001c0001t0022g0100	57	226	0.2522	-18	c.397 others(39): Show c.397-146741_397-146724delAAAAAAAAAAAAAAAAAA	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDA_chrX_69611113_70044472	69849080	TATACACA others(11): Show TATACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0200 a0001c0001t0003g0200	1	226	0.0044	-18	c.397 others(39): Show c.397-107945_397-107928delTACACACACACACACACA	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDA_chrX_69611113_70044472	69849082	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0066 a0001c0001t0003g0066	1	226	0.0044	-18	c.397 others(39): Show c.397-107911_397-107894delCACACACACACACACACA	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDA_chrX_69611113_70044472	69856254	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	226	0.0044	-18	c.397 others(39): Show c.397-100746_397-100729delGTGTGTGTGTGTGTGTGT	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDA_chrX_69611113_70044472	69910370	AGAGAGTG others(11): Show AGAGAGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	226	0.0044	-18	c.397 others(37): Show c.397-46655_397-46638delAGAGTGTGTGTGTGTGTG	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDA_chrX_69611113_70044472	69978318	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02257.hp2 HG02258.hp1 others(6): Show HG02055.hp1 HG02257.hp2 HG02258.hp1 HG02559.hp2 HG02622.hp2 HG02886.hp2 HG02922.hp2 HG03139.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 a0001c0002t0001	a0001c0001t0001g0036 a0001c0001t0001g0137 a0001c0001t0001g0140 others(6): Show a0001c0001t0001g0036 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0166 a0001c0001t0002g0050 a0001c0001t0004g0194 a0001c0001t0012g0108 a0001c0002t0001g0030 a0001c0002t0001g0031	9	226	0.0398	-18	c.502 others(37): Show c.502+21204_502+21221delAAAAAAAAAAAAAAAAAA	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDEM1_chr3_5182707_5224958	5222192	ACTCCAGA others(11): Show ACTCCAGAAAAATGGGGTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0138 a0001c0001t0003g0138	1	374	0.0027	-18	c.62 others(29): Show c.6275_*6292delCTCCAGAAAAATGGGGTC	EDEM1	ENSG00000134109.11	transcript	ENST00000256497.9	protein_coding		2235		chr3	TogoVar
EDEM3_chr1_184685237_184759858	184744249	AATATATA others(11): Show AATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02976.hp2 NA18975.hp1 others(1): Show HG02055.hp1 HG02976.hp2 NA18975.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0007 a0001c0003t0017 a0001c0001t0001 a0001c0001t0007 a0001c0003t0017	a0001c0001t0001g0144 a0001c0001t0007g0142 a0001c0003t0017g0143 others(1): Show a0001c0001t0001g0144 a0001c0001t0007g0142 a0001c0003t0017g0143 a0001c0003t0017g0191	4	324	0.0124	-18	c.204 others(35): Show c.204+5280_204+5297delATATATATATATATATAT	EDEM3	ENSG00000116406.20	transcript	ENST00000318130.13	protein_coding	2/19			chr1	TogoVar
EDIL3_chr5_83935554_84389880	84160742	TTTCTTTC others(11): Show TTTCTTTCCTTTCCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00741.hp2 HG01261.hp2 others(1): Show HG00280.hp1 HG00741.hp2 HG01261.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0002g0048 a0001c0001t0002g0117 a0001c0001t0003g0125 others(1): Show a0001c0001t0002g0048 a0001c0001t0002g0117 a0001c0001t0003g0125 a0001c0001t0004g0096	4	158	0.0253	-18	c.355 others(37): Show c.355+19633_355+19650delGGAAAGGAAAGGAAAGAA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	4/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84369233	CATACACA others(11): Show CATACACACACATATAAAT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0150 a0001c0003t0001g0150	1	158	0.0063	-18	c.67+ others(35): Show c.67+15057_67+15074delATTTATATGTGTGTGTAT	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	1/10			chr5	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124768100	GCAGAGGG others(11): Show GCAGAGGGCAGCAAGTATA	G G	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03834.hp1 HG02738.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0348 a0001c0001t0006g0349 a0001c0001t0006g0348 a0001c0001t0006g0349	2	358	0.0056	-18	c.400 others(35): Show c.400-2510_400-2493delTATACTTGCTGCCCTCTG	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124770646	GGAGTACA others(11): Show GGAGTACATGATATTGTTT	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0306 a0001c0001t0006g0306	1	358	0.0028	-18	c.399 others(35): Show c.399+4011_399+4028delAAACAATATCATGTACTC	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT3_chr12_57767614_57787541	57784916	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	362	0.0028	-18	c.42 others(29): Show c.4271_*4288delTTTTTTTTTTTTTTTTTT	EEF1AKMT3	ENSG00000123427.17	transcript	ENST00000300209.13	protein_coding		2376		chr12	TogoVar
EEF1AKMT4_chr3_184244672_184263759	184263637	AAGAGAGA others(11): Show AAGAGAGAGAGAGAGAGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01175.hp2 others(2): Show HG01069.hp2 HG01071.hp1 HG01175.hp2 HG02647.hp2 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0028 a0001c0002t0001g0063 a0001c0002t0001g0073 others(1): Show a0001c0002t0001g0028 a0001c0002t0001g0063 a0001c0002t0001g0073 a0001c0002t0001g0076	5	378	0.0132	-18	c.50 others(29): Show c.5063_*5080delAGAGAGAGAGAGAGAGAG	EEF1AKMT4	ENSG00000284753.2	transcript	ENST00000324557.9	protein_coding		4879		chr3	TogoVar
EEF1E1_chr6_8074395_8107548	8101243	AATATATA others(11): Show AATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00673.hp1 HG01978.hp1 others(3): Show HG00609.hp1 HG00673.hp1 HG01978.hp1 NA18906.hp1 NA18977.hp2 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0124 a0001c0001t0001g0288 others(2): Show a0001c0001t0001g0040 a0001c0001t0001g0124 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0353	6	442	0.0136	-18	c.87+ others(33): Show c.87+1174_87+1191delATATATATATATATATAT	EEF1E1	ENSG00000124802.12	transcript	ENST00000379715.10	protein_coding	1/3			chr6	TogoVar
EEF2KMT_chr16_5079284_5102795	5089601	GGCTTGCA others(11): Show GGCTTGCAGGGGTGGGCTT	G G	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0070 a0001c0004t0002g0070	1	442	0.0023	-18	c.743 others(33): Show c.743-363_743-346delAAGCCCACCCCTGCAAGC	EEF2KMT	ENSG00000118894.15	transcript	ENST00000427587.9	protein_coding	6/7			chr16	TogoVar
EEIG1_chr9_127935582_127985989	127965106	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02622.hp2 HG02647.hp1 HG01891.hp1 HG02622.hp2 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0021 a0001c0002t0002g0064 a0001c0002t0002g0021 a0001c0002t0002g0064	3	342	0.0088	-18	c.147 others(37): Show c.147-11199_147-11182delTTTTTTTTTTTTTTTTTT	EEIG1	ENSG00000167106.12	transcript	ENST00000373095.6	protein_coding	1/10			chr9	TogoVar
EEIG2_chr1_108555100_108644322	108625770	CTCTCTGT others(11): Show CTCTCTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0175 a0001c0001t0016g0175	1	272	0.0037	-18	c.556 others(35): Show c.556+1024_556+1041delCTCTGTGTGTGTGTGTGT	EEIG2	ENSG00000162636.16	transcript	ENST00000370035.8	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
EEIG2_chr1_108555100_108644322	108625774	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01169.hp2 HG03491.hp2 others(3): Show HG00738.hp2 HG01169.hp2 HG03491.hp2 HG03492.hp2 HG04204.hp1 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 others(3): Show a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0042 a0001c0001t0001g0078	6	272	0.0221	-18	c.556 others(35): Show c.556+1063_556+1080delTGTGTGTGTGTGTGTGTG	EEIG2	ENSG00000162636.16	transcript	ENST00000370035.8	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
EEPD1_chr7_36148254_36306538	36150958	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGTGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00639.hp2 HG01074.hp1 others(50): Show HG00609.hp1 HG00639.hp2 HG01074.hp1 HG01081.hp2 HG01255.hp1 HG01261.hp1 HG01433.hp2 HG02155.hp1 HG02486.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02738.hp1 HG02818.hp1 HG02886.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03688.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp2 HG04228.hp2 NA18906.hp2 NA18941.hp1 NA18943.hp2 NA18957.hp2 NA18966.hp2 NA18980.hp2 NA18988.hp2 NA18994.hp2 NA18995.hp2 NA19005.hp2 NA19030.hp1 NA19056.hp2 NA19067.hp1 NA19240.hp1 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0003 others(3): Show a0001c0001 a0001c0004 a0002c0003 a0002c0005 a0002c0009 a0003c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0031 a0001c0001t0032 a0001c0001t0035 a0001c0001t0047 a0001c0001t0063 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0004t0006 a0001c0004t0012 a0001c0004t0058 a0002c0003t0001 a0002c0003t0003 a0002c0003t0037 a0002c0005t0022 a0002c0009t0006 a0003c0002t0062	a0001c0001t0001g0179 a0001c0001t0001g0262 a0001c0001t0001g0289 others(50): Show a0001c0001t0001g0179 a0001c0001t0001g0262 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0310 a0001c0001t0001g0323 a0001c0001t0002g0309 a0001c0001t0002g0322 a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0001t0003g0299 a0001c0001t0003g0319 a0001c0001t0004g0191 a0001c0001t0009g0213 a0001c0001t0009g0313 a0001c0001t0009g0315 a0001c0001t0009g0316 a0001c0001t0009g0320 a0001c0001t0009g0328 a0001c0001t0010g0207 a0001c0001t0010g0285 a0001c0001t0010g0287 a0001c0001t0012g0197 a0001c0001t0014g0307 a0001c0001t0014g0308 a0001c0001t0015g0182 a0001c0001t0015g0183 a0001c0001t0031g0325 a0001c0001t0032g0192 a0001c0001t0035g0327 a0001c0001t0047g0008 a0001c0001t0063g0253 a0001c0001t0066g0311 a0001c0001t0067g0306 a0001c0001t0068g0305 a0001c0001t0069g0312 a0001c0004t0006g0258 a0001c0004t0012g0196 a0001c0004t0012g0324 a0001c0004t0058g0314 a0002c0003t0001g0251 a0002c0003t0001g0252 a0002c0003t0003g0318 a0002c0003t0037g0304 a0002c0005t0022g0190 a0002c0005t0022g0195 a0002c0009t0006g0288 a0003c0002t0062g0244	53	346	0.1532	-18	c.-29 others(29): Show c.-2908_-2891delGTGTGTGTGTGTGTGTGG	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding		2295		chr7	TogoVar
EEPD1_chr7_36148254_36306538	36252829	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0226 a0001c0001t0049g0226	1	346	0.0029	-18	c.930 others(37): Show c.930+13806_930+13823delTTTTTTTTTTTTTTTTTT	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
EFCAB10_chr7_105560124_105586493	105570226	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03041.hp1 HG03195.hp1 HG02970.hp1 HG03041.hp1 HG03195.hp1	a0001 a0001	a0001c0007 a0001c0015 a0001c0007 a0001c0015	a0001c0007t0003 a0001c0015t0003 a0001c0007t0003 a0001c0015t0003	a0001c0007t0003g0091 a0001c0015t0003g0067 a0001c0007t0003g0091 a0001c0015t0003g0067	3	428	0.0070	-18	c.107 others(33): Show c.107-673_107-656delATATTTTTTTTTTTTTTT	EFCAB10	ENSG00000185055.11	transcript	ENST00000480514.6	protein_coding	1/4			chr7	TogoVar
EFCAB10_chr7_105560124_105586493	105570228	AAAAAAAA others(11): Show AAAAAAAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02451.hp2 HG02559.hp2 others(8): Show HG02145.hp1 HG02451.hp2 HG02559.hp2 HG02622.hp2 HG02886.hp1 HG02895.hp1 HG02965.hp2 HG03130.hp1 NA19240.hp1 NA19240.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0007 a0002c0024 a0001c0007 a0002c0024	a0001c0007t0003 a0002c0024t0003 a0001c0007t0003 a0002c0024t0003	a0001c0007t0003g0002 a0001c0007t0003g0030 a0001c0007t0003g0092 others(3): Show a0001c0007t0003g0002 a0001c0007t0003g0030 a0001c0007t0003g0092 a0001c0007t0003g0110 a0001c0007t0003g0111 a0002c0024t0003g0109	11	428	0.0257	-18	c.107 others(33): Show c.107-675_107-658delATATATTTTTTTTTTTTT	EFCAB10	ENSG00000185055.11	transcript	ENST00000480514.6	protein_coding	1/4			chr7	TogoVar
EFCAB10_chr7_105560124_105586493	105570230	AAAAAAAA others(11): Show AAAAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0308 a0001c0009t0001g0308	1	428	0.0023	-18	c.107 others(33): Show c.107-677_107-660delATATATATTTTTTTTTTT	EFCAB10	ENSG00000185055.11	transcript	ENST00000480514.6	protein_coding	1/4			chr7	TogoVar
EFCAB11_chr14_89789669_89959730	89886527	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA18522.hp2 HG03209.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0012 a0001c0001t0008 a0001c0001t0012	a0001c0001t0008g0239 a0001c0001t0012g0238 a0001c0001t0008g0239 a0001c0001t0012g0238	2	284	0.0070	-18	c.410 others(37): Show c.410+44996_410+45013delCTTTTTTTTTTTTTTTTT	EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	5/5			chr14	TogoVar
EFCAB11_chr14_89789669_89959730	89917080	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02258.hp2 HG02486.hp1 others(7): Show HG02109.hp2 HG02258.hp2 HG02486.hp1 HG02622.hp2 HG02717.hp1 HG02922.hp1 HG03098.hp2 HG03225.hp1 NA18522.hp1 NA19240.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0002 a0001c0004t0006 others(3): Show a0001c0004t0001 a0001c0004t0002 a0001c0004t0006 a0001c0004t0009 a0001c0004t0017 a0001c0004t0036	a0001c0004t0001g0277 a0001c0004t0001g0278 a0001c0004t0002g0276 others(7): Show a0001c0004t0001g0277 a0001c0004t0001g0278 a0001c0004t0002g0276 a0001c0004t0002g0279 a0001c0004t0006g0280 a0001c0004t0009g0271 a0001c0004t0009g0272 a0001c0004t0009g0275 a0001c0004t0017g0281 a0001c0004t0036g0282	10	284	0.0352	-18	c.410 others(37): Show c.410+14443_410+14460delTACACACACACACACACA	EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	5/5			chr14	TogoVar
EFCAB13_chr17_47318955_47446312	47325923	AATATATA others(11): Show AATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp2 HG00673.hp2 others(46): Show HG00323.hp1 HG00642.hp2 HG00673.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01891.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02257.hp2 HG02523.hp2 HG02559.hp1 HG02647.hp2 HG02738.hp1 HG03130.hp2 HG03239.hp2 HG03710.hp1 HG04184.hp2 NA18941.hp1 NA18942.hp2 NA18948.hp2 NA18956.hp2 NA18957.hp2 NA18960.hp1 NA18971.hp2 NA18982.hp1 NA18993.hp1 NA19005.hp1 NA19009.hp1 NA19011.hp1 NA19062.hp2 NA19064.hp1 NA19066.hp2 NA19075.hp2 NA19084.hp2 NA19088.hp2 NA19089.hp1 NA20905.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0025 a0008c0011 a0001c0001 a0001c0025 a0008c0011	a0001c0001t0001 a0001c0025t0001 a0008c0011t0001 a0001c0001t0001 a0001c0025t0001 a0008c0011t0001	a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 others(46): Show a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0112 a0001c0001t0001g0119 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0025t0001g0144 a0008c0011t0001g0049	49	356	0.1376	-18	c.-24 others(35): Show c.-247-281_-247-264delTATATATATATATATATA	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar

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