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
ELOVL6_chr4_110040846_110203615	110084563	G G	GATATATA others(19): Show GATATATATTTATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18970.hp2 NA19003.hp1 others(2): Show HG00558.hp2 NA18970.hp2 NA19003.hp1 NA19067.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0052 a0001c0001t0053	a0001c0001t0001g0147 a0001c0001t0002g0180 a0001c0001t0003g0292 others(2): Show a0001c0001t0001g0147 a0001c0001t0002g0180 a0001c0001t0003g0292 a0001c0001t0052g0191 a0001c0001t0053g0237	5	338	0.0148	26	c.221 others(45): Show c.221+20933_221+20934insATATATATATATATATAAATATATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084563	G G	GATATATA others(19): Show GATATATATTTATATATTTATATATAT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	338	0.0030	26	c.221 others(45): Show c.221+20933_221+20934insATATATATAAATATATAAATATATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117901	A A	AATATATA others(19): Show AATATATATAGATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0272 a0001c0001t0002g0272	1	338	0.0030	26	c.90- others(43): Show c.90-12274_90-12273insATATATATATATATATCTATATATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0217 a0001c0001t0004g0217	1	338	0.0030	26	c.90- others(43): Show c.90-12276_90-12275insATATATATATATATTTTTTTTTTTTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAAAAA others(19): Show AAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0069 a0001c0001t0021g0069	1	338	0.0030	26	c.90- others(43): Show c.90-12276_90-12275insATATATATATATATATTTTTTTTTTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAAAAA others(19): Show AAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp2 HG02622.hp2 HG01516.hp2 HG01517.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0075 a0001c0001t0017 a0001c0001t0075	a0001c0001t0017g0133 a0001c0001t0017g0137 a0001c0001t0075g0074 a0001c0001t0017g0133 a0001c0001t0017g0137 a0001c0001t0075g0074	3	338	0.0089	26	c.90- others(43): Show c.90-12276_90-12275insATATATATATATATATATTTTTTTTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAAATA others(19): Show AAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0028 a0001c0001t0008g0028	1	338	0.0030	26	c.90- others(43): Show c.90-12276_90-12275insATATATATATATATATATATATTTTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117922	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0300 a0001c0001t0001g0300	1	338	0.0030	26	c.90- others(43): Show c.90-12295_90-12294insGATATATATATATATATATATATATA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117924	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0178 a0001c0001t0002g0178	1	338	0.0030	26	c.90- others(43): Show c.90-12297_90-12296insGATATATATATATATATATATATATA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110121860	G G	GAGAGAAA others(19): Show GAGAGAAATCTGTAAGAAAAGGTCTCC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 NA20129.hp1 HG02895.hp2 HG02897.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0080 a0001c0001t0022 a0001c0001t0080	a0001c0001t0022g0105 a0001c0001t0022g0106 a0001c0001t0080g0104 a0001c0001t0022g0105 a0001c0001t0022g0106 a0001c0001t0080g0104	3	338	0.0089	26	c.90- others(43): Show c.90-16258_90-16233dupGGAGACCTTTTCTTACAGATTTCTCT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110158559	A A	ATATATAT others(19): Show ATATATATATACATCTATATATATATG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	338	0.0030	26	c.89+ others(43): Show c.89+39662_89+39687dupCATATATATATAGATGTATATATATA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL7_chr5_60746791_60849269	60815535	C C	CAATAAAA others(19): Show CAATAAAATTTATTTATTTTATAAATA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	258	0.0039	26	c.-85 others(45): Show c.-85-16331_-85-16306dupTATTTATAAAATAAATAAATTTTATT	ELOVL7	ENSG00000164181.14	transcript	ENST00000508821.6	protein_coding	1/8			chr5	TogoVar
ELOVL7_chr5_60746791_60849269	60843336	G G	GGGGAAAG others(19): Show GGGGAAAGCCCATTTCCCAACGAACCT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0039 a0001c0001t0018g0039	1	258	0.0039	26	c.-86 others(41): Show c.-86+798_-86+823dupAGGTTCGTTGGGAAATGGGCTTTCCC	ELOVL7	ENSG00000164181.14	transcript	ENST00000508821.6	protein_coding	1/8			chr5	TogoVar
ELP4_chr11_31504767_31795324	31560684	A A	ATTGTTTT others(19): Show ATTGTTTTATATATATATAAAACAACG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00621.hp1 others(124): Show HG00280.hp2 HG00323.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00738.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01258.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01993.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02080.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02300.hp2 HG02486.hp2 HG02523.hp2 HG02572.hp2 HG02602.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp2 HG02738.hp2 HG02818.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18747.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18951.hp1 NA18954.hp2 NA18959.hp1 NA18960.hp1 NA18967.hp2 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18974.hp2 NA18977.hp2 NA18978.hp2 NA18984.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp2 NA18991.hp2 NA18994.hp2 NA18998.hp1 NA18999.hp2 NA19004.hp2 NA19030.hp1 NA19043.hp2 NA19060.hp2 NA19063.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19082.hp1 NA19083.hp2 NA19084.hp1 NA19086.hp1 NA19090.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0004c0005 a0006c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0018 a0001c0001t0019 a0001c0001t0027 a0001c0001t0028 a0001c0001t0033 a0001c0001t0036 a0001c0001t0039 a0001c0001t0040 a0001c0001t0048 a0001c0001t0053 a0001c0001t0055 a0001c0001t0057 a0001c0001t0059 a0001c0001t0060 a0001c0001t0063 a0001c0001t0065 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0075 a0001c0002t0014 a0002c0003t0001 a0002c0003t0004 a0002c0003t0082 a0004c0005t0009 a0006c0004t0076	a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0018 others(124): Show a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0185 a0001c0001t0001g0255 a0001c0001t0001g0263 a0001c0001t0002g0015 a0001c0001t0002g0222 a0001c0001t0003g0103 a0001c0001t0003g0181 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0186 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0196 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0206 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0214 a0001c0001t0004g0017 a0001c0001t0004g0020 a0001c0001t0004g0026 a0001c0001t0004g0043 a0001c0001t0004g0044 a0001c0001t0004g0051 a0001c0001t0004g0071 a0001c0001t0004g0075 a0001c0001t0004g0078 a0001c0001t0004g0091 a0001c0001t0005g0021 a0001c0001t0005g0028 a0001c0001t0005g0029 a0001c0001t0005g0061 a0001c0001t0005g0067 a0001c0001t0005g0191 a0001c0001t0005g0203 a0001c0001t0007g0014 a0001c0001t0007g0045 a0001c0001t0007g0072 a0001c0001t0007g0081 a0001c0001t0007g0089 a0001c0001t0008g0092 a0001c0001t0008g0208 a0001c0001t0008g0209 a0001c0001t0008g0216 a0001c0001t0008g0218 a0001c0001t0009g0180 a0001c0001t0009g0187 a0001c0001t0009g0195 a0001c0001t0009g0198 a0001c0001t0011g0104 a0001c0001t0011g0189 a0001c0001t0011g0197 a0001c0001t0012g0023 a0001c0001t0012g0035 a0001c0001t0012g0038 a0001c0001t0018g0013 a0001c0001t0018g0031 a0001c0001t0018g0205 a0001c0001t0019g0084 a0001c0001t0019g0095 a0001c0001t0027g0048 a0001c0001t0027g0050 a0001c0001t0028g0201 a0001c0001t0028g0204 a0001c0001t0033g0060 a0001c0001t0036g0090 a0001c0001t0039g0212 a0001c0001t0040g0059 a0001c0001t0048g0215 a0001c0001t0053g0049 a0001c0001t0055g0083 a0001c0001t0057g0087 a0001c0001t0059g0182 a0001c0001t0060g0202 a0001c0001t0063g0047 a0001c0001t0065g0030 a0001c0001t0067g0161 a0001c0001t0068g0039 a0001c0001t0069g0080 a0001c0001t0070g0219 a0001c0001t0071g0024 a0001c0001t0075g0217 a0001c0002t0014g0097 a0002c0003t0001g0093 a0002c0003t0001g0094 a0002c0003t0001g0096 a0002c0003t0004g0022 a0002c0003t0082g0207 a0004c0005t0009g0188 a0006c0004t0076g0063	127	270	0.4704	26	c.381 others(45): Show c.381+20927_381+20952dupGTTGTTTTATATATATATAAAACAAC	ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
ELP4_chr11_31504767_31795324	31623390	T T	TATATATA others(19): Show TATATATATATATAAATATATATATAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0048 a0001c0001t0027g0048	1	270	0.0037	26	c.654 others(43): Show c.654-3719_654-3718insTATATATATATAAATATATATATAAA	ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
ELSPBP1_chr19_47989632_48030154	48028497	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0200 a0001c0001t0002g0200	1	388	0.0026	26	c.35 others(37): Show c.3553_*3554insTTTTTTTTTTTTTTTTTTTTTTTTTT	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding		3344		chr19	TogoVar
EMC10_chr19_50471507_50495871	50472090	A A	ATGTATAT others(19): Show ATGTATATGTATATGTATATATACGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0012 a0001c0001t0009g0012	1	352	0.0028	26	c.-44 others(37): Show c.-4455_-4454insTGTATATGTATATGTATATATACGTG	EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding		4416		chr19	TogoVar
EMC10_chr19_50471507_50495871	50492036	C C	CGGGGAGA others(19): Show CGGGGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02818.hp1 HG02258.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0118 a0001c0002t0058 a0001c0001t0118 a0001c0002t0058	a0001c0001t0118g0001 a0001c0002t0058g0015 a0001c0001t0118g0001 a0001c0002t0058g0015	2	352	0.0057	26	c.97 others(37): Show c.9777_*9778insGGGGAGAGAGAGAGAGAGAGAGAGAG	EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding		1166		chr19	TogoVar
EMC7_chr15_34079017_34106862	34093806	C C	CACACACA others(19): Show CACACACACACACACACACACATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03017.hp2 HG03490.hp1 others(4): Show HG02486.hp2 HG03017.hp2 HG03490.hp1 HG03492.hp1 HG03834.hp1 NA18995.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0270 a0001c0001t0001g0303 a0001c0001t0001g0004 a0001c0001t0001g0270 a0001c0001t0001g0303	7	410	0.0171	26	c.356 others(43): Show c.356+2088_356+2089insATATATGTGTGTGTGTGTGTGTGTGT	EMC7	ENSG00000134153.10	transcript	ENST00000256545.9	protein_coding	2/4			chr15	TogoVar
EMC7_chr15_34079017_34106862	34093806	C C	CACACACA others(19): Show CACACACACACACACACACATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02723.hp1 NA19004.hp2 HG02630.hp2 HG02723.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0300 a0001c0001t0001g0306 a0001c0002t0001g0050 a0001c0001t0001g0300 a0001c0001t0001g0306 a0001c0002t0001g0050	3	410	0.0073	26	c.356 others(43): Show c.356+2088_356+2089insATATATATGTGTGTGTGTGTGTGTGT	EMC7	ENSG00000134153.10	transcript	ENST00000256545.9	protein_coding	2/4			chr15	TogoVar
EMC7_chr15_34079017_34106862	34093806	C C	CACACACA others(19): Show CACACACACACACACATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0326 a0001c0001t0001g0326	1	410	0.0024	26	c.356 others(43): Show c.356+2088_356+2089insATATATATATATGTGTGTGTGTGTGT	EMC7	ENSG00000134153.10	transcript	ENST00000256545.9	protein_coding	2/4			chr15	TogoVar
EMC9_chr14_24133965_24146591	24135105	A A	AACACACA others(19): Show AACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	422	0.0024	26	c.39 others(37): Show c.3904_*3905insGTGTGTGTGTGTGTGTGTGTGTGTGT	EMC9	ENSG00000100908.14	transcript	ENST00000216799.9	protein_coding		3859		chr14	TogoVar
EMILIN2_chr18_2842006_2921003	2858573	G G	GTGTATAT others(19): Show GTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0171 a0001c0003t0002g0171	1	452	0.0022	26	c.257 others(45): Show c.257+10645_257+10646insATATATATATATATATATATATATGT	EMILIN2	ENSG00000132205.11	transcript	ENST00000254528.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
EMILIN2_chr18_2842006_2921003	2858583	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02895.hp2 HG02897.hp1 others(1): Show HG02723.hp2 HG02895.hp2 HG02897.hp1 HG03453.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0004 a0002c0005 a0005c0021 a0001c0004 a0002c0005 a0005c0021	a0001c0004t0010 a0002c0005t0078 a0005c0021t0004 a0001c0004t0010 a0002c0005t0078 a0005c0021t0004	a0001c0004t0010g0068 a0002c0005t0078g0258 a0005c0021t0004g0069 others(1): Show a0001c0004t0010g0068 a0002c0005t0078g0258 a0005c0021t0004g0069 a0005c0021t0004g0070	4	452	0.0089	26	c.257 others(45): Show c.257+10653_257+10654insGTGTGTGTGTGTGTATATATATATAT	EMILIN2	ENSG00000132205.11	transcript	ENST00000254528.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
EML1_chr14_99788413_99947060	99838918	C C	CGCGCGCG others(19): Show CGCGCGCGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0055 a0003c0002t0001g0055	1	288	0.0035	26	c.68- others(43): Show c.68-11934_68-11933insCGCGCGTGTGTGTGTGTGTGTGTGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML4_chr2_42164353_42337548	42245094	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG03654.hp1 NA18959.hp1 HG01975.hp1 HG03654.hp1 NA18959.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0002 a0001c0001t0002 a0003c0003t0002	a0001c0001t0002g0219 a0001c0001t0002g0304 a0003c0003t0002g0232 a0001c0001t0002g0219 a0001c0001t0002g0304 a0003c0003t0002g0232	3	358	0.0084	26	c.26- others(39): Show c.26-393_26-392insTTTTTTTTTTTTTTTTTTTTTTTTTT	EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML4_chr2_42164353_42337548	42306484	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0070 a0002c0002t0009g0070	1	358	0.0028	26	c.196 others(45): Show c.1967+1934_1967+1959dupTTTTTTTTTTTTTTTTTTTTTTTTTT	EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	17/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML4_chr2_42164353_42337548	42325602	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01978.hp2 NA19005.hp1 others(2): Show HG01433.hp1 HG01978.hp2 NA19005.hp1 NA19081.hp2 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0002 a0003c0003t0023 a0001c0001t0002 a0003c0003t0002 a0003c0003t0023	a0001c0001t0002g0281 a0003c0003t0002g0265 a0003c0003t0002g0268 others(2): Show a0001c0001t0002g0281 a0003c0003t0002g0265 a0003c0003t0002g0268 a0003c0003t0002g0292 a0003c0003t0023g0200	5	358	0.0140	26	c.224 others(41): Show c.2242+60_2242+85dupATATATATATATATATATATATATAT	EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML4_chr2_42164353_42337548	42325602	T T	TTATATTT others(19): Show TTATATTTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0255 a0003c0003t0004g0255	1	358	0.0028	26	c.224 others(41): Show c.2242+53_2242+54insTTATATATATATATATATATATATAT	EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML4_chr2_42164353_42337548	42325602	T T	TTTTATAT others(19): Show TTTTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02145.hp1 HG01106.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0195 a0001c0001t0002g0197	2	358	0.0056	26	c.224 others(41): Show c.2242+49_2242+50insTTATATATATATATATATATATATAT	EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML5_chr14_88607431_88797953	88608012	G G	GAGTACCA others(19): Show GAGTACCATCCCCCATCTCACCTTGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00639.hp2 others(30): Show HG00099.hp1 HG00323.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01358.hp2 HG01516.hp1 HG01943.hp2 HG01993.hp1 HG02258.hp2 HG02572.hp2 HG02647.hp2 HG02738.hp2 HG03017.hp2 HG03195.hp1 HG03654.hp1 HG03704.hp2 HG03710.hp2 HG03942.hp2 HG04184.hp1 NA18966.hp2 NA19004.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0031 a0001c0001t0032	a0001c0001t0001g0280 a0001c0001t0003g0036 a0001c0001t0003g0037 others(30): Show a0001c0001t0001g0280 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0061 a0001c0001t0003g0063 a0001c0001t0003g0070 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0083 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0007g0038 a0001c0001t0007g0062 a0001c0001t0007g0065 a0001c0001t0007g0067 a0001c0001t0007g0069 a0001c0001t0007g0071 a0001c0001t0007g0072 a0001c0001t0007g0078 a0001c0001t0007g0084 a0001c0001t0007g0085 a0001c0001t0007g0134 a0001c0001t0009g0042 a0001c0001t0009g0058 a0001c0001t0009g0059 a0001c0001t0009g0060 a0001c0001t0009g0076 a0001c0001t0031g0066 a0001c0001t0032g0077	33	332	0.0994	26	c.77 others(37): Show c.7780_*7805dupTGCAAGGTGAGATGGGGGATGGTACT	EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding		4418		chr14	TogoVar
EML5_chr14_88607431_88797953	88608012	G G	GAGTACCA others(19): Show GAGTACCATCCCCTATCTCACCTTGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0055 a0001c0001t0003g0055	1	332	0.0030	26	c.78 others(37): Show c.7805_*7806insTGCAAGGTGAGATAGGGGATGGTACT	EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding		4418		chr14	TogoVar
EML6_chr2_54718662_54977025	54797166	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0078 a0001c0001t0005g0078	1	264	0.0038	26	c.198 others(45): Show c.198-16043_198-16042insAACAAAAAAAAAAAAAAAAAAAAAAA	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54823850	T T	TTCTCTCT others(19): Show TTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01167.hp1 HG01255.hp1 others(1): Show HG00735.hp1 HG01167.hp1 HG01255.hp1 HG01943.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0002 a0001c0003t0027 a0001c0003t0054 others(1): Show a0001c0003t0002 a0001c0003t0027 a0001c0003t0054 a0001c0005t0024	a0001c0003t0002g0176 a0001c0003t0027g0149 a0001c0003t0054g0166 others(1): Show a0001c0003t0002g0176 a0001c0003t0027g0149 a0001c0003t0054g0166 a0001c0005t0024g0050	4	264	0.0152	26	c.525 others(43): Show c.525+3390_525+3415dupCTCTCTCTCTCTCTCTCTCTCTCTCT	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	5/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54823868	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0004 a0001c0002t0006g0004	1	264	0.0038	26	c.525 others(43): Show c.525+3415_525+3416insCTCTCTCTCTCTCTCTTTCTCTCTCT	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	5/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54848524	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02738.hp1 NA19054.hp1 NA19087.hp2 HG02738.hp1 NA19054.hp1 NA19087.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0004 a0001c0003t0011 a0001c0003t0001 a0001c0003t0004 a0001c0003t0011	a0001c0003t0001g0261 a0001c0003t0004g0195 a0001c0003t0011g0115 a0001c0003t0001g0261 a0001c0003t0004g0195 a0001c0003t0011g0115	3	264	0.0114	26	c.118 others(43): Show c.1187+903_1187+928dupCACACACACACACACACACACACACA	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	9/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54882857	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02886.hp2 HG03471.hp2 others(1): Show HG01071.hp1 HG02886.hp2 HG03471.hp2 NA19240.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0003 a0001c0005t0001 a0001c0005t0003	a0001c0005t0001g0088 a0001c0005t0001g0090 a0001c0005t0001g0092 others(1): Show a0001c0005t0001g0088 a0001c0005t0001g0090 a0001c0005t0001g0092 a0001c0005t0003g0119	4	264	0.0152	26	c.243 others(45): Show c.2438+3234_2438+3235insAAAAAAAAAAAAAAAAAAAAAAAAAA	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	17/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54961184	G G	GTTGGTTT others(19): Show GTTGGTTTTTTTTTTTTGTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0169 a0001c0001t0019g0169	1	264	0.0038	26	c.496 others(43): Show c.4968+852_4968+853insGGTTTTTTTTTTTTGTTTTTTTTTTT	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	35/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54961184	G G	GTTGTTTT others(19): Show GTTGTTTTTTTTGTTTTGTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp2 NA20752.hp1 HG01255.hp2 NA20752.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0191 a0001c0004t0007g0201 a0001c0004t0007g0191 a0001c0004t0007g0201	2	264	0.0076	26	c.496 others(43): Show c.4968+852_4968+853insGTTTTTTTTGTTTTGTTTTTTTTTTT	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	35/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54961184	G G	GTTGTTTT others(19): Show GTTGTTTTTTTTTTTTTGTTTTTTTGT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0239 a0001c0001t0007g0239	1	264	0.0038	26	c.496 others(43): Show c.4968+852_4968+853insGTTTTTTTTTTTTTGTTTTTTTGTTT	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	35/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54961184	G G	GTTGTTTT others(19): Show GTTGTTTTTTTTTTTTTGTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01891.hp1 HG01943.hp1 others(12): Show HG01496.hp2 HG01891.hp1 HG01943.hp1 HG01978.hp2 HG02040.hp1 HG03654.hp1 HG04204.hp1 NA18945.hp2 NA18952.hp1 NA18957.hp2 NA18966.hp2 NA18994.hp1 NA19081.hp2 NA19085.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0037 a0001c0001 a0001c0004 a0001c0037	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0014 a0001c0001t0019 a0001c0001t0042 a0001c0004t0007 a0001c0037t0015	a0001c0001t0001g0190 a0001c0001t0002g0189 a0001c0001t0007g0180 others(12): Show a0001c0001t0001g0190 a0001c0001t0002g0189 a0001c0001t0007g0180 a0001c0001t0007g0199 a0001c0001t0007g0238 a0001c0001t0014g0009 a0001c0001t0014g0170 a0001c0001t0019g0167 a0001c0001t0019g0168 a0001c0001t0042g0198 a0001c0004t0007g0002 a0001c0004t0007g0046 a0001c0004t0007g0047 a0001c0004t0007g0049 a0001c0037t0015g0113	15	264	0.0568	26	c.496 others(43): Show c.4968+852_4968+853insGTTTTTTTTTTTTTGTTTTTTTTTTT	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	35/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54961184	G G	GTTGTTTT others(19): Show GTTGTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00639.hp2 others(28): Show HG00099.hp2 HG00280.hp1 HG00639.hp2 HG00741.hp1 HG00741.hp2 HG01081.hp1 HG01167.hp2 HG01175.hp1 HG01257.hp1 HG01261.hp1 HG01517.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02622.hp2 HG02698.hp1 HG03017.hp2 HG03209.hp1 HG03490.hp1 HG03688.hp2 HG04115.hp2 HG06807.hp1 NA18948.hp2 NA18950.hp2 NA18966.hp1 NA18969.hp1 NA19064.hp2 NA19085.hp2 NA19088.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0007	a0001c0001 a0001c0002 a0001c0004 others(7): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0003c0013 a0005c0031 a0007c0017	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(15): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0001t0018 a0001c0001t0055 a0001c0001t0056 a0001c0002t0001 a0001c0002t0013 a0001c0004t0001 a0001c0004t0003 a0001c0004t0016 a0001c0005t0001 a0001c0006t0051 a0001c0007t0052 a0001c0009t0008 a0003c0013t0005 a0005c0031t0053 a0007c0017t0001	a0001c0001t0001g0076 a0001c0001t0001g0186 a0001c0001t0001g0187 others(28): Show a0001c0001t0001g0076 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0005g0033 a0001c0001t0005g0043 a0001c0001t0005g0070 a0001c0001t0005g0215 a0001c0001t0005g0241 a0001c0001t0008g0112 a0001c0001t0008g0123 a0001c0001t0018g0037 a0001c0001t0055g0251 a0001c0001t0056g0258 a0001c0002t0001g0041 a0001c0002t0013g0016 a0001c0002t0013g0022 a0001c0002t0013g0024 a0001c0004t0001g0206 a0001c0004t0003g0117 a0001c0004t0003g0130 a0001c0004t0016g0085 a0001c0005t0001g0221 a0001c0006t0051g0038 a0001c0007t0052g0001 a0001c0009t0008g0133 a0003c0013t0005g0036 a0005c0031t0053g0165 a0007c0017t0001g0224	31	264	0.1174	26	c.496 others(43): Show c.4968+852_4968+853insGTTTTTTTTTTTTTTTTTTTTTTTTT	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	35/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54961184	G G	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02132.hp1 HG03239.hp1 others(1): Show HG00639.hp1 HG02132.hp1 HG03239.hp1 NA18951.hp2	a0001 a0001	a0001c0004 a0001c0010 a0001c0004 a0001c0010	a0001c0004t0001 a0001c0004t0008 a0001c0010t0050 a0001c0004t0001 a0001c0004t0008 a0001c0010t0050	a0001c0004t0001g0200 a0001c0004t0008g0098 a0001c0004t0008g0099 others(1): Show a0001c0004t0001g0200 a0001c0004t0008g0098 a0001c0004t0008g0099 a0001c0010t0050g0226	4	264	0.0152	26	c.496 others(43): Show c.4968+869_4968+870insTTTTTTTTTTTTTTTTTTTTTTTTTT	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	35/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EMP2_chr16_10523422_10585598	10575237	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18955.hp1 NA18978.hp2 others(1): Show NA18946.hp1 NA18955.hp1 NA18978.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0024 a0001c0001t0037 others(1): Show a0001c0001t0013 a0001c0001t0024 a0001c0001t0037 a0001c0001t0043	a0001c0001t0013g0061 a0001c0001t0024g0063 a0001c0001t0037g0062 others(1): Show a0001c0001t0013g0061 a0001c0001t0024g0063 a0001c0001t0037g0062 a0001c0001t0043g0060	4	402	0.0100	26	c.-61 others(43): Show c.-61+5286_-61+5311dupAAAAAAAAAAAAAAAAAAAAAAAAAA	EMP2	ENSG00000213853.10	transcript	ENST00000359543.8	protein_coding	1/4			chr16	TogoVar
ENG_chr9_127810016_127859658	127837810	C C	CCATCCAT others(19): Show CCATCCATCCATCCACATCCATCCATT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01074.hp1 others(23): Show HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01109.hp2 HG01167.hp1 HG01192.hp1 HG01496.hp2 HG01517.hp2 HG01891.hp1 HG02055.hp1 HG02055.hp2 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02886.hp1 HG02970.hp2 HG02976.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp2 HG03540.hp1 HG03710.hp1 NA18906.hp1 NA19030.hp2 NA20129.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0006 others(4): Show a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0013 a0003c0030 a0004c0009	a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 a0001c0008t0001 a0001c0013t0001 a0003c0030t0001 a0004c0009t0001	a0001c0001t0001g0051 a0001c0001t0001g0065 a0001c0001t0001g0103 others(22): Show a0001c0001t0001g0051 a0001c0001t0001g0065 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0294 a0001c0001t0001g0301 a0001c0001t0001g0306 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0030 a0001c0002t0001g0034 a0001c0002t0001g0036 a0001c0002t0001g0038 a0001c0002t0001g0043 a0001c0002t0001g0056 a0001c0006t0001g0003 a0001c0006t0001g0058 a0001c0006t0001g0059 a0001c0008t0001g0027 a0001c0013t0001g0041 a0003c0030t0001g0333 a0004c0009t0001g0054	26	344	0.0756	26	c.219 others(43): Show c.219+5283_219+5284insAATGGATGGATGTGGATGGATGGATG	ENG	ENSG00000106991.14	transcript	ENST00000373203.9	protein_coding	2/14			chr9	TogoVar
ENKUR_chr10_24976985_25021158	24997807	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0254 a0001c0001t0005g0254	1	384	0.0026	26	c.223 others(43): Show c.223+1593_223+1594insTATATATATATATATATATATATATA	ENKUR	ENSG00000151023.17	transcript	ENST00000331161.9	protein_coding	2/5			chr10	TogoVar
ENOSF1_chr18_665318_717630	672393	G G	GTCTTCAC others(19): Show GTCTTCACATCCTAATTGCCACTGTCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0036 a0003c0004t0036	a0003c0004t0036g0364 a0003c0004t0036g0364	1	418	0.0024	26	c.18 others(37): Show c.1886_*1911dupAGACAGTGGCAATTAGGATGTGAAGA	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding	16/16	1911		chr18	TogoVar
ENOX1_chr13_43208130_43791972	43247828	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0151 a0001c0002t0006g0151	1	188	0.0053	26	c.161 others(47): Show c.1612-11116_1612-11091dupATATATATATATATATATATATAT AT	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	14/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43247883	A A	ATATATAT others(19): Show ATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0131	1	188	0.0053	26	c.161 others(47): Show c.1612-11146_1612-11145insAAAAAAAAAAAATATATATATATA TA	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	14/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43616170	C C	CTAGATAG others(19): Show CTAGATAGATAGATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0075 a0001c0001t0017g0075	1	188	0.0053	26	c.-21 others(47): Show c.-219+51308_-219+51309insTATATATATATATATCTATCTATC TA	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	2/16			chr13	TogoVar

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