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
ELL2_chr5_95880098_95966851	95927400	T T	TACACACA others(23): Show TACACACACACGTGTGTATATATAGACATAC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0225 a0001c0001t0002g0225	1	314	0.0032	30	c.196 others(47): Show c.196-7856_196-7855insGTATGTCTATATATACACACGTGTGTGT GT	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
ELL2_chr5_95880098_95966851	95927688	C C	CGTGTGTA others(23): Show CGTGTGTATATAGACATACACACACACATAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG03225.hp1 NA18964.hp2 others(2): Show HG01123.hp1 HG03225.hp1 NA18964.hp2 NA18982.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0259 a0001c0001t0002g0261 a0001c0001t0002g0273 others(2): Show a0001c0001t0002g0259 a0001c0001t0002g0261 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0279	5	314	0.0159	30	c.196 others(47): Show c.196-8173_196-8144dupATATGTGTGTGTGTATGTCTATATACAC AC	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
ELMO1_chr7_36847906_37453864	36897336	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03098.hp1 NA19240.hp1 HG02886.hp1 HG03098.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0008 a0001c0001t0005 a0001c0001t0008	a0001c0001t0005g0006 a0001c0001t0008g0059 a0001c0001t0008g0092 a0001c0001t0005g0006 a0001c0001t0008g0059 a0001c0001t0008g0092	3	92	0.0326	30	c.143 others(49): Show c.1438-2320_1438-2319insTACACACACACACACACACACACACA CACA	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	16/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	37161905	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01978.hp1 HG02896.hp2 others(3): Show HG01261.hp2 HG01978.hp1 HG02896.hp2 HG03195.hp1 HG03195.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0017 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0017 a0001c0002t0003 a0001c0003t0002	a0001c0001t0001g0085 a0001c0001t0003g0072 a0001c0001t0017g0012 others(3): Show a0001c0001t0001g0085 a0001c0001t0003g0072 a0001c0001t0017g0012 a0001c0002t0003g0077 a0001c0003t0002g0020 a0001c0003t0002g0035	6	92	0.0652	30	c.108 others(51): Show c.1087-28701_1087-28672dupATATATATATATATATATATATAT ATATAT	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	13/21			chr7	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGGCGGG others(23): Show GGGGCGGGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp1 NA18977.hp1 NA19086.hp1 NA18944.hp1 NA18977.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0056 a0001c0001t0004g0211 a0001c0001t0004g0236 a0001c0001t0003g0056 a0001c0001t0004g0211 a0001c0001t0004g0236	3	312	0.0096	30	c.-47 others(41): Show c.-4772_-4771insACACACACACACACACACACACACCCGCCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGGGGCG others(23): Show GGGGGGCGGGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0033 a0001c0001t0004g0033	1	312	0.0032	30	c.-47 others(41): Show c.-4772_-4771insACACACACACACACACACACACCCGCCCCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411195	C C	CGGGTGTG others(23): Show CGGGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 NA18945.hp2 HG01081.hp1 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0109 a0001c0001t0003g0070 a0001c0001t0001g0109 a0001c0001t0003g0070	2	312	0.0064	30	c.-47 others(41): Show c.-4774_-4773insACACACACACACACACACACACACACACCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4581		chr20	TogoVar
ELOA_chr1_23738471_23767059	23758251	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0167 a0002c0003t0001g0167	1	400	0.0025	30	c.225 others(49): Show c.2257+1129_2257+1130insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	ELOA	ENSG00000011007.13	transcript	ENST00000613537.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELOVL2_chr6_10975759_11049305	10978306	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0004 a0001c0001t0010g0004	1	380	0.0026	30	c.54 others(41): Show c.5474_*5475insTTATATATATATATATATATATATATATAT	ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding		2452		chr6	TogoVar
ELOVL2_chr6_10975759_11049305	11043467	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01358.hp1 HG01952.hp2 others(10): Show HG00323.hp1 HG01358.hp1 HG01952.hp2 HG01993.hp2 HG02148.hp2 HG02735.hp1 HG03654.hp1 HG03654.hp2 NA18612.hp1 NA18980.hp1 NA19070.hp2 NA19074.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0013 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0013 a0001c0001t0014	a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 others(10): Show a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0007g0061 a0001c0001t0007g0067 a0001c0001t0007g0069 a0001c0001t0007g0070 a0001c0001t0013g0068 a0001c0001t0014g0063	13	380	0.0342	30	c.3+7 others(41): Show c.3+760_3+761insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding	1/7			chr6	TogoVar
ELOVL6_chr4_110040846_110203615	110084419	T T	TATATCAC others(23): Show TATATCACATATATCATATATGATATATCGC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	338	0.0030	30	c.221 others(49): Show c.221+21048_221+21077dupGCGATATATCATATATGATATATGTG ATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084424	C C	CGCATATA others(23): Show CGCATATATCATATATGATATATCGCATATA	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0214 a0001c0001t0064g0214	1	338	0.0030	30	c.221 others(49): Show c.221+21072_221+21073insTATATGCGATATATCATATATGATAT ATGC	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084425	A A	ACATATAT others(23): Show ACATATATCATATATGATATATCACATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG01070.hp2 others(22): Show HG00438.hp2 HG00544.hp2 HG01070.hp2 HG01346.hp2 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG02071.hp1 HG02074.hp1 HG02132.hp1 HG02155.hp1 NA18945.hp1 NA18964.hp2 NA18970.hp1 NA18984.hp2 NA18985.hp1 NA19000.hp2 NA19002.hp1 NA19060.hp2 NA19064.hp1 NA19066.hp1 NA19074.hp2 NA19080.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0048 a0001c0001t0049 a0001c0001t0061 a0001c0001t0071	a0001c0001t0001g0199 a0001c0001t0003g0050 a0001c0001t0003g0051 others(22): Show a0001c0001t0001g0199 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0094 a0001c0001t0003g0102 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0135 a0001c0001t0003g0188 a0001c0001t0003g0198 a0001c0001t0003g0221 a0001c0001t0003g0255 a0001c0001t0003g0259 a0001c0001t0003g0310 a0001c0001t0003g0313 a0001c0001t0003g0318 a0001c0001t0010g0181 a0001c0001t0010g0187 a0001c0001t0010g0269 a0001c0001t0010g0317 a0001c0001t0010g0322 a0001c0001t0048g0081 a0001c0001t0049g0097 a0001c0001t0061g0083 a0001c0001t0071g0075	25	338	0.0740	30	c.221 others(49): Show c.221+21071_221+21072insATATATGTGATATATCATATATGATA TATG	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084425	A A	ACATATAT others(23): Show ACATATATCATATATGATATATCGCATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(60): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00438.hp1 HG00558.hp1 HG00639.hp1 HG00639.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02027.hp1 HG02083.hp1 HG02148.hp2 HG02630.hp2 HG02738.hp1 HG02738.hp2 HG03492.hp1 HG03669.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp2 NA18943.hp1 NA18946.hp1 NA18955.hp1 NA18981.hp1 NA18982.hp1 NA18988.hp2 NA18992.hp2 NA18993.hp2 NA18994.hp2 NA19002.hp2 NA19058.hp2 NA19085.hp2 NA20300.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0001t0017 a0001c0001t0023 a0001c0001t0032 a0001c0001t0036 a0001c0001t0047 a0001c0001t0060 a0001c0001t0063 a0001c0001t0065 a0001c0001t0067 a0001c0001t0068	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(60): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0128 a0001c0001t0001g0146 a0001c0001t0001g0168 a0001c0001t0001g0183 a0001c0001t0001g0195 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0220 a0001c0001t0001g0224 a0001c0001t0001g0232 a0001c0001t0001g0238 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0261 a0001c0001t0001g0268 a0001c0001t0001g0274 a0001c0001t0001g0293 a0001c0001t0001g0300 a0001c0001t0001g0307 a0001c0001t0001g0316 a0001c0001t0001g0319 a0001c0001t0001g0321 a0001c0001t0001g0327 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0002g0140 a0001c0001t0002g0332 a0001c0001t0003g0175 a0001c0001t0005g0062 a0001c0001t0005g0202 a0001c0001t0005g0215 a0001c0001t0005g0225 a0001c0001t0005g0262 a0001c0001t0005g0323 a0001c0001t0006g0200 a0001c0001t0006g0324 a0001c0001t0012g0184 a0001c0001t0012g0185 a0001c0001t0017g0133 a0001c0001t0017g0137 a0001c0001t0017g0170 a0001c0001t0017g0223 a0001c0001t0023g0166 a0001c0001t0023g0167 a0001c0001t0032g0163 a0001c0001t0032g0173 a0001c0001t0036g0001 a0001c0001t0047g0333 a0001c0001t0060g0311 a0001c0001t0063g0335 a0001c0001t0065g0253 a0001c0001t0067g0055 a0001c0001t0068g0282	63	338	0.1864	30	c.221 others(49): Show c.221+21042_221+21071dupATATATGCGATATATCATATATGATA TATG	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084426	C C	CATATATC others(23): Show CATATATCATATATGATATATCACATATATG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp1 HG00735.hp2 others(100): Show HG00558.hp2 HG00597.hp1 HG00735.hp2 HG01168.hp2 HG01169.hp1 HG01261.hp2 HG01358.hp2 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01981.hp1 HG02040.hp1 HG02056.hp2 HG02071.hp2 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp2 HG03942.hp2 HG04184.hp2 NA18522.hp1 NA18612.hp1 NA18941.hp2 NA18943.hp2 NA18946.hp2 NA18947.hp2 NA18949.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18982.hp2 NA18984.hp1 NA18992.hp1 NA19003.hp1 NA19004.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19060.hp1 NA19067.hp2 NA19080.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19240.hp1 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(36): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0027 a0001c0001t0034 a0001c0001t0037 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0059 a0001c0001t0062 a0001c0001t0070 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0078	a0001c0001t0001g0044 a0001c0001t0001g0070 a0001c0001t0001g0071 others(100): Show a0001c0001t0001g0044 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0127 a0001c0001t0001g0147 a0001c0001t0001g0182 a0001c0001t0001g0213 a0001c0001t0001g0226 a0001c0001t0001g0234 a0001c0001t0001g0241 a0001c0001t0001g0263 a0001c0001t0001g0275 a0001c0001t0001g0279 a0001c0001t0001g0303 a0001c0001t0002g0032 a0001c0001t0002g0061 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0076 a0001c0001t0002g0142 a0001c0001t0002g0159 a0001c0001t0002g0164 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0189 a0001c0001t0002g0240 a0001c0001t0002g0244 a0001c0001t0002g0272 a0001c0001t0002g0286 a0001c0001t0002g0290 a0001c0001t0002g0295 a0001c0001t0002g0298 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0314 a0001c0001t0003g0196 a0001c0001t0003g0205 a0001c0001t0003g0292 a0001c0001t0004g0122 a0001c0001t0005g0134 a0001c0001t0005g0312 a0001c0001t0006g0194 a0001c0001t0007g0013 a0001c0001t0007g0048 a0001c0001t0007g0052 a0001c0001t0007g0078 a0001c0001t0007g0079 a0001c0001t0007g0158 a0001c0001t0007g0160 a0001c0001t0007g0171 a0001c0001t0007g0250 a0001c0001t0007g0291 a0001c0001t0009g0157 a0001c0001t0011g0045 a0001c0001t0011g0047 a0001c0001t0011g0151 a0001c0001t0011g0152 a0001c0001t0014g0014 a0001c0001t0014g0025 a0001c0001t0014g0111 a0001c0001t0014g0150 a0001c0001t0015g0227 a0001c0001t0016g0098 a0001c0001t0016g0112 a0001c0001t0016g0114 a0001c0001t0016g0177 a0001c0001t0018g0040 a0001c0001t0018g0041 a0001c0001t0018g0042 a0001c0001t0019g0124 a0001c0001t0019g0229 a0001c0001t0019g0328 a0001c0001t0021g0018 a0001c0001t0021g0069 a0001c0001t0021g0107 a0001c0001t0022g0017 a0001c0001t0027g0254 a0001c0001t0034g0026 a0001c0001t0034g0043 a0001c0001t0037g0002 a0001c0001t0043g0038 a0001c0001t0044g0100 a0001c0001t0045g0204 a0001c0001t0050g0039 a0001c0001t0051g0143 a0001c0001t0052g0191 a0001c0001t0053g0237 a0001c0001t0054g0284 a0001c0001t0055g0063 a0001c0001t0056g0297 a0001c0001t0057g0109 a0001c0001t0059g0024 a0001c0001t0062g0116 a0001c0001t0070g0218 a0001c0001t0072g0252 a0001c0001t0073g0126 a0001c0001t0074g0015 a0001c0001t0075g0074 a0001c0001t0076g0080 a0001c0001t0078g0099	103	338	0.3047	30	c.221 others(49): Show c.221+21070_221+21071insCATATATGTGATATATCATATATGAT ATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084563	G G	GATATATA others(23): Show GATATATATTTATATTTATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	338	0.0030	30	c.221 others(49): Show c.221+20933_221+20934insATATATATATATATAAATATAAATAT ATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAAAAA others(23): Show AAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0047 a0001c0001t0011g0047	1	338	0.0030	30	c.90- others(47): Show c.90-12276_90-12275insATATATATATATATATATATATTTTTTT TT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELSPBP1_chr19_47989632_48030154	48025655	A A	ACCTCCTT others(23): Show ACCTCCTTCTCCTCCTCCCTCTCCTTCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01358.hp2 HG02055.hp1 others(23): Show HG01106.hp1 HG01358.hp2 HG02055.hp1 HG02165.hp1 HG02486.hp2 HG02572.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp2 HG03471.hp1 HG03490.hp1 NA18942.hp1 NA18943.hp1 NA18947.hp1 NA18952.hp1 NA18954.hp1 NA18978.hp2 NA18979.hp1 NA18988.hp2 NA19000.hp2 NA19012.hp1 NA19074.hp2 NA19084.hp1 NA20129.hp2 NA20805.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0002c0002t0001 a0004c0004t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0004c0004t0001 a0004c0004t0002	a0001c0001t0001g0030 a0001c0001t0001g0120 a0001c0001t0001g0264 others(23): Show a0001c0001t0001g0030 a0001c0001t0001g0120 a0001c0001t0001g0264 a0002c0002t0001g0099 a0002c0002t0001g0118 a0002c0002t0001g0330 a0004c0004t0001g0032 a0004c0004t0001g0036 a0004c0004t0001g0039 a0004c0004t0001g0041 a0004c0004t0001g0045 a0004c0004t0001g0058 a0004c0004t0001g0077 a0004c0004t0001g0094 a0004c0004t0001g0095 a0004c0004t0001g0271 a0004c0004t0001g0306 a0004c0004t0001g0320 a0004c0004t0001g0371 a0004c0004t0001g0375 a0004c0004t0001g0376 a0004c0004t0002g0034 a0004c0004t0002g0130 a0004c0004t0002g0184 a0004c0004t0002g0222 a0004c0004t0002g0234	26	388	0.0670	30	c.71 others(39): Show c.711_*712insCCTCCTTCTCCTCCTCCCTCTCCTTCTCCT	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding		502		chr19	TogoVar
ELSPBP1_chr19_47989632_48030154	48028497	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0196 a0002c0002t0002g0196	1	388	0.0026	30	c.35 others(41): Show c.3553_*3554insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding		3344		chr19	TogoVar
EMC7_chr15_34079017_34106862	34093806	C C	CACACACA others(23): Show CACACACACACACACACACACACATATATAT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0297 a0001c0001t0001g0297	1	410	0.0024	30	c.356 others(47): Show c.356+2088_356+2089insATATATATGTGTGTGTGTGTGTGTGTGT GT	EMC7	ENSG00000134153.10	transcript	ENST00000256545.9	protein_coding	2/4			chr15	TogoVar
EMILIN2_chr18_2842006_2921003	2858549	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0134 a0001c0002t0006g0134	1	452	0.0022	30	c.257 others(49): Show c.257+10639_257+10640insATATATGTGTATATATATATATATAT ATAT	EMILIN2	ENSG00000132205.11	transcript	ENST00000254528.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
EML1_chr14_99788413_99947060	99928008	G G	GTGGTGGT others(23): Show GTGGTGGTGGTGGTGGTGGTGATGGTGGTGA	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0040 a0001c0004t0001g0040	1	288	0.0035	30	c.190 others(49): Show c.1909+7151_1909+7152insATGGTGGTGATGGTGGTGGTGGTGGT GGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99928029	G G	GTGGTGGT others(23): Show GTGGTGGTGATGGTGGTGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0194 a0003c0002t0001g0194	1	288	0.0035	30	c.190 others(49): Show c.1909+7160_1909+7161insATGGTGGTGGTGGTGGTGGTGATGGT GGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML4_chr2_42164353_42337548	42245094	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02723.hp1 HG03209.hp2 others(2): Show HG00323.hp1 HG02723.hp1 HG03209.hp2 NA19082.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0003 a0001c0001 a0001c0005 a0003c0003	a0001c0001t0002 a0001c0001t0005 a0001c0005t0014 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0005t0014 a0003c0003t0004	a0001c0001t0002g0216 a0001c0001t0002g0272 a0001c0001t0005g0309 others(2): Show a0001c0001t0002g0216 a0001c0001t0002g0272 a0001c0001t0005g0309 a0001c0005t0014g0349 a0003c0003t0004g0287	5	358	0.0140	30	c.26- others(43): Show c.26-393_26-392insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML4_chr2_42164353_42337548	42325602	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18994.hp2 NA18995.hp1 others(1): Show NA18987.hp2 NA18994.hp2 NA18995.hp1 NA19001.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0002 a0003c0003t0004 a0001c0001t0002 a0003c0003t0002 a0003c0003t0004	a0001c0001t0002g0303 a0003c0003t0002g0225 a0003c0003t0004g0248 others(1): Show a0001c0001t0002g0303 a0003c0003t0002g0225 a0003c0003t0004g0248 a0003c0003t0004g0269	4	358	0.0112	30	c.224 others(45): Show c.2242+56_2242+85dupATATATATATATATATATATATATATATAT	EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54823850	T T	TTCATTCT others(23): Show TTCATTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0153 a0001c0003t0002g0153	1	264	0.0038	30	c.525 others(47): Show c.525+3390_525+3391insATTCTCTCTCTCTCTCTCTCTCTCTCTC TC	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	5/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54823850	T T	TTCTCTCT others(23): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01952.hp2 HG01975.hp1 others(2): Show HG00642.hp1 HG01952.hp2 HG01975.hp1 HG02723.hp1 NA18969.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0008 a0001c0002 a0001c0003 a0002c0008	a0001c0002t0004 a0001c0003t0002 a0002c0008t0012 a0001c0002t0004 a0001c0003t0002 a0002c0008t0012	a0001c0002t0004g0067 a0001c0003t0002g0154 a0001c0003t0002g0155 others(2): Show a0001c0002t0004g0067 a0001c0003t0002g0154 a0001c0003t0002g0155 a0001c0003t0002g0156 a0002c0008t0012g0058	5	264	0.0189	30	c.525 others(47): Show c.525+3415_525+3416insCTCTCTCTCTCTCTCTCTCTCTCTCTCT CT	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	5/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54882857	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02300.hp1 HG02698.hp2 others(1): Show HG01978.hp1 HG02300.hp1 HG02698.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0003t0009 a0001c0004t0003 a0001c0001t0001 a0001c0003t0009 a0001c0004t0003	a0001c0001t0001g0147 a0001c0003t0009g0097 a0001c0003t0009g0132 others(1): Show a0001c0001t0001g0147 a0001c0003t0009g0097 a0001c0003t0009g0132 a0001c0004t0003g0130	4	264	0.0152	30	c.243 others(49): Show c.2438+3234_2438+3235insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	17/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54882873	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0017 a0001c0005t0017	a0001c0005t0017g0084 a0001c0005t0017g0084	1	264	0.0038	30	c.243 others(49): Show c.2438+3234_2438+3235insAAAAAAAAAAAAAAAAAAAAAAAAAA AAGA	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	17/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54961184	G G	GTTGTTTT others(23): Show GTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01516.hp2 HG02572.hp1 others(1): Show HG01433.hp2 HG01516.hp2 HG02572.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0006 others(1): Show a0001c0002 a0001c0005 a0001c0006 a0001c0036	a0001c0002t0020 a0001c0005t0006 a0001c0006t0025 others(1): Show a0001c0002t0020 a0001c0005t0006 a0001c0006t0025 a0001c0036t0006	a0001c0002t0020g0164 a0001c0005t0006g0086 a0001c0006t0025g0212 others(1): Show a0001c0002t0020g0164 a0001c0005t0006g0086 a0001c0006t0025g0212 a0001c0036t0006g0007	4	264	0.0152	30	c.496 others(47): Show c.4968+852_4968+853insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	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(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0057 a0001c0001t0013g0057	1	402	0.0025	30	c.-61 others(47): Show c.-61+5282_-61+5311dupAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	EMP2	ENSG00000213853.10	transcript	ENST00000359543.8	protein_coding	1/4			chr16	TogoVar
ENAH_chr1_225481829_225658123	225561619	T T	TTAAAATA others(23): Show TTAAAATAAAATAAAATAAAATAAAATAAAA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01496.hp2 HG01517.hp1 others(7): Show HG01258.hp2 HG01496.hp2 HG01517.hp1 HG02083.hp2 HG02135.hp1 HG02280.hp1 HG03579.hp2 HG03927.hp1 NA18983.hp2 NA19003.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0004 a0004c0005 a0001c0001 a0003c0004 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0071 a0003c0004t0008 a0004c0005t0031	a0001c0001t0001g0207 a0001c0001t0001g0231 a0001c0001t0002g0095 others(7): Show a0001c0001t0001g0207 a0001c0001t0001g0231 a0001c0001t0002g0095 a0001c0001t0002g0105 a0001c0001t0002g0203 a0001c0001t0005g0230 a0001c0001t0005g0299 a0001c0001t0071g0226 a0003c0004t0008g0298 a0004c0005t0031g0215	10	308	0.0325	30	c.171 others(47): Show c.171+5600_171+5629dupTTTTATTTTATTTTATTTTATTTTATTT TA	ENAH	ENSG00000154380.19	transcript	ENST00000366843.7	protein_coding	2/13			chr1	TogoVar
ENG_chr9_127810016_127859658	127837810	C C	CCATCCAT others(23): Show CCATCCATCCATCCATCCACATCCATCCATT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00639.hp1 others(17): Show HG00099.hp2 HG00323.hp2 HG00639.hp1 HG01081.hp1 HG01099.hp1 HG01192.hp2 HG01346.hp1 HG01952.hp2 HG01975.hp2 HG02647.hp1 HG02735.hp1 HG02976.hp1 HG03098.hp2 HG03195.hp2 HG03453.hp2 HG03486.hp2 HG03669.hp1 NA18522.hp2 NA19043.hp1 NA21309.hp2	a0001 a0004 a0011 a0001 a0004 a0011	a0001c0001 a0001c0002 a0001c0008 others(3): Show a0001c0001 a0001c0002 a0001c0008 a0004c0009 a0004c0015 a0011c0011	a0001c0001t0001 a0001c0002t0001 a0001c0008t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0008t0001 a0004c0009t0005 a0004c0015t0005 a0011c0011t0001	a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0001g0155 others(17): Show a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0001g0155 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0210 a0001c0002t0001g0015 a0001c0002t0001g0017 a0001c0002t0001g0029 a0001c0002t0001g0031 a0001c0002t0001g0033 a0001c0002t0001g0037 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0296 a0001c0008t0001g0016 a0004c0009t0005g0055 a0004c0015t0005g0032 a0011c0011t0001g0020	20	344	0.0581	30	c.219 others(47): Show c.219+5283_219+5284insAATGGATGGATGTGGATGGATGGATGGA TG	ENG	ENSG00000106991.14	transcript	ENST00000373203.9	protein_coding	2/14			chr9	TogoVar
ENKUR_chr10_24976985_25021158	24997807	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0248 a0001c0001t0005g0248	1	384	0.0026	30	c.223 others(47): Show c.223+1593_223+1594insTATATATATATATATATATATATATATA TA	ENKUR	ENSG00000151023.17	transcript	ENST00000331161.9	protein_coding	2/5			chr10	TogoVar
ENOX1_chr13_43208130_43791972	43417242	C C	CGGGAGAG others(23): Show CGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0103 a0001c0001t0018g0103	1	188	0.0053	30	c.-74 others(47): Show c.-74-4255_-74-4254insTCTCCCTCTCCCTCTCCCTCTCCCTCTC CC	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	3/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43541173	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0114 a0001c0001t0004g0114	1	188	0.0053	30	c.-21 others(51): Show c.-218-57022_-218-57021insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	2/16			chr13	TogoVar
ENPP1_chr6_131803020_131900155	131811376	A A	ATATATCT others(23): Show ATATATCTATATCTATATCTATATCTATATC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0101 a0001c0001t0027g0101	1	292	0.0034	30	c.240 others(47): Show c.240+3131_240+3160dupCTATATCTATATCTATATCTATATCTAT AT	ENPP1	ENSG00000197594.14	transcript	ENST00000647893.1	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP3_chr6_131632302_131752410	131641799	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	278	0.0036	30	c.154 others(45): Show c.154+293_154+294insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP7_chr17_79725943_79747219	79732121	C C	CATATATA others(23): Show CATATATATATATACACATATATACACATAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0122 a0002c0010t0001g0122	1	430	0.0023	30	c.253 others(45): Show c.253+739_253+740insATACACATATATACACATATATATATATAT	ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
ENPP7_chr17_79725943_79747219	79732121	C C	CATATATA others(23): Show CATATATATATATATACATATATACACATAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG02523.hp1 HG01167.hp1 HG01169.hp1 HG02523.hp1	a0002 a0003 a0002 a0003	a0002c0001 a0003c0005 a0002c0001 a0003c0005	a0002c0001t0001 a0003c0005t0001 a0002c0001t0001 a0003c0005t0001	a0002c0001t0001g0138 a0003c0005t0001g0047 a0002c0001t0001g0138 a0003c0005t0001g0047	3	430	0.0070	30	c.253 others(45): Show c.253+739_253+740insATATACATATATACACATATATATATATAT	ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
ENTHD1_chr22_39738044_39898760	39768987	C C	CACACACT others(23): Show CACACACTAACTTGTGTATATGTACATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	218	0.0046	30	c.833 others(47): Show c.833-3408_833-3379dupATATATGTACATATACACAAGTTAGTGT GT	ENTHD1	ENSG00000176177.10	transcript	ENST00000325157.7	protein_coding	5/6			chr22	TogoVar
ENTPD4_chr8_23424162_23462647	23427124	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0004 a0001c0003t0001g0004	1	412	0.0024	30	c.58 others(41): Show c.5801_*5802insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENTPD4	ENSG00000197217.13	transcript	ENST00000358689.9	protein_coding		2037		chr8	TogoVar
ENTPD8_chr9_137429364_137446357	137444829	A A	AGGCACGT others(23): Show AGGCACGTGGATCACCTGAAGTCAGGAGTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	392	0.0026	30	c.-35 others(41): Show c.-3565_-3564insGAACTCCTGACTTCAGGTGATCCACGTGCC	ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding		3473		chr9	TogoVar
ENTREP2_chr15_29115252_29575979	29402265	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01069.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0068 a0001c0001t0001g0047 a0001c0001t0001g0068	2	125	0.0160	30	c.220 others(49): Show c.220-20435_220-20434insGTATATATATATATATATATATATAT ATAT	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	1/10			chr15	TogoVar
ENY2_chr8_109329347_109350954	109349396	G G	GATATATA others(23): Show GATATATATATATAGATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	428	0.0023	30	c.59 others(41): Show c.5915_*5916insATATATATATATAGATATATATATATATAT	ENY2	ENSG00000120533.13	transcript	ENST00000521688.6	protein_coding		3443		chr8	TogoVar
ENY2_chr8_109329347_109350954	109349396	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0062 a0001c0001t0001g0046 a0001c0001t0001g0062	2	428	0.0047	30	c.59 others(41): Show c.5915_*5916insATATATATATATATATATATATATATATAT	ENY2	ENSG00000120533.13	transcript	ENST00000521688.6	protein_coding		3443		chr8	TogoVar
ENY2_chr8_109329347_109350954	109349397	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	428	0.0023	30	c.59 others(41): Show c.5916_*5917insTATATATATATATATATATATATATATATA	ENY2	ENSG00000120533.13	transcript	ENST00000521688.6	protein_coding		3444		chr8	TogoVar
ENY2_chr8_109329347_109350954	109349397	T T	TTTTATAT others(23): Show TTTTATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0026 a0001c0001t0007g0026	1	428	0.0023	30	c.59 others(41): Show c.5916_*5917insTTTATATATATATATATATATATATATATA	ENY2	ENSG00000120533.13	transcript	ENST00000521688.6	protein_coding		3444		chr8	TogoVar
EOMES_chr3_27710953_27727323	27711316	A A	ATATATAT others(23): Show ATATATATATATATTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0007 a0002c0002t0001g0007	1	400	0.0025	30	c.57 others(41): Show c.5753_*5754insAAAAAAAAAAAAAAAAAATATATATATATA	EOMES	ENSG00000163508.13	transcript	ENST00000449599.4	protein_coding		4636		chr3	TogoVar
EPAS1_chr2_46292407_46391697	46362980	G G	GGTGGTGG others(23): Show GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0009 a0003c0003t0009	a0003c0003t0009g0319 a0003c0003t0009g0319	1	326	0.0031	30	c.779 others(47): Show c.779+1919_779+1920insAGTGGTGGTGGTGGTGGTGGTGGTGGTG GT	EPAS1	ENSG00000116016.14	transcript	ENST00000263734.5	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr2	TogoVar

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