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
DUSP16_chr12_12468282_12567863	12560946	T T	TCACACAC others(25): Show TCACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0008 a0003c0005t0008	a0003c0005t0008g0281 a0003c0005t0008g0281	1	352	0.0028	32	c.-36 others(51): Show c.-366+1170_-366+1171insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTG	DUSP16	ENSG00000111266.9	transcript	ENST00000298573.9	protein_coding	1/6			chr12	TogoVar
DUSP16_chr12_12468282_12567863	12560946	T T	TCACACAC others(25): Show TCACACACCCACACCCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	352	0.0028	32	c.-36 others(51): Show c.-366+1170_-366+1171insTGTGTGTGTGTGTGTGTGGGTGTGGG TGTGTG	DUSP16	ENSG00000111266.9	transcript	ENST00000298573.9	protein_coding	1/6			chr12	TogoVar
DUSP26_chr8_33586330_33605023	33587567	T T	TTCTTTCT others(25): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02818.hp1 HG02486.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0091 a0001c0001t0001g0034 a0001c0001t0001g0091	2	420	0.0048	32	c.44 others(43): Show c.4445_*4446insGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	DUSP26	ENSG00000133878.9	transcript	ENST00000256261.9	protein_coding		3762		chr8	TogoVar
DUSP26_chr8_33586330_33605023	33597882	T T	TACACACA others(25): Show TACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02056.hp2 HG02155.hp2 others(1): Show HG00438.hp2 HG02056.hp2 HG02155.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0039 a0001c0001t0001g0108 a0001c0001t0002g0179 a0001c0001t0001g0039 a0001c0001t0001g0108 a0001c0001t0002g0179	4	420	0.0095	32	c.-76 others(47): Show c.-76-292_-76-291insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	DUSP26	ENSG00000133878.9	transcript	ENST00000256261.9	protein_coding	1/3			chr8	TogoVar
DUSP29_chr10_75032472_75078642	75074317	A A	AAAAAAAA others(25): Show AAAAAAAAAAAATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0019 a0003c0003t0001g0019	1	368	0.0027	32	c.-78 others(41): Show c.-784_-783insATATATATATATATATATATATTTTTTTTTTT	DUSP29	ENSG00000188716.6	transcript	ENST00000338487.6	protein_coding		676		chr10	TogoVar
DUXA_chr19_57149021_57172485	57155646	A A	AAGATAGA others(25): Show AAGATAGATAGATAGATAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01175.hp1 HG03669.hp1 others(1): Show HG00140.hp2 HG01175.hp1 HG03669.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0099 a0001c0001t0002g0093 a0001c0001t0002g0304 others(1): Show a0001c0001t0001g0099 a0001c0001t0002g0093 a0001c0001t0002g0304 a0001c0001t0002g0383	4	446	0.0090	32	c.439 others(47): Show c.439-275_439-274insATCTATCTATCTATCTATCTATCTATCTAT CT	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding	4/5			chr19	TogoVar
DYM_chr18_49031387_49465645	49145134	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA19065.hp1 HG01884.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0025 a0001c0001t0002 a0001c0003t0025	a0001c0001t0002g0165 a0001c0003t0025g0278 a0001c0001t0002g0165 a0001c0003t0025g0278	2	290	0.0069	32	c.172 others(53): Show c.1728+18550_1728+18551insTTATATATATATATATATATATAT ATATATAT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	15/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49292312	A A	ACAGACAG others(25): Show ACAGACAGGCAGGCAGGCAGGCAGGCAGGCAGG	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG03831.hp2 NA18953.hp2 others(1): Show HG02155.hp1 HG03831.hp2 NA18953.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0015 a0001c0001t0032 a0001c0001t0008 a0001c0001t0015 a0001c0001t0032	a0001c0001t0008g0019 a0001c0001t0015g0015 a0001c0001t0015g0018 others(1): Show a0001c0001t0008g0019 a0001c0001t0015g0015 a0001c0001t0015g0018 a0001c0001t0032g0013	4	290	0.0138	32	c.764 others(49): Show c.764-5697_764-5696insCCTGCCTGCCTGCCTGCCTGCCTGCCTG TCTG	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	8/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49317646	C C	CTCCTCTC others(25): Show CTCCTCTCCTCTCCTCTCCTCTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG01255.hp1 NA19009.hp2 NA19090.hp1 HG01255.hp1 NA19009.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0012 a0001c0001t0006 a0001c0001t0012	a0001c0001t0006g0183 a0001c0001t0012g0160 a0001c0001t0012g0211 a0001c0001t0006g0183 a0001c0001t0012g0160 a0001c0001t0012g0211	3	290	0.0103	32	c.763 others(51): Show c.763+14217_763+14218insAGGAAGGAAGGAGAGGAGAGGAGAGG AGAGGA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	8/17			chr18	TogoVar
DYNC1H1_chr14_101959573_102061443	102047641	G G	GTGTGTGT others(25): Show GTGTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01993.hp1 NA18948.hp2 NA18983.hp1 HG01993.hp1 NA18948.hp2 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0174 a0001c0001t0002g0185 a0001c0001t0002g0238 a0001c0001t0002g0174 a0001c0001t0002g0185 a0001c0001t0002g0238	3	280	0.0107	32	c.130 others(51): Show c.13007-175_13007-174insGTGTGTATATATATATATATATATAT ATATAT	DYNC1H1	ENSG00000197102.14	transcript	ENST00000360184.10	protein_coding	72/77		INFO_REALIGN_3_PRIME	chr14	TogoVar
DYNC1H1_chr14_101959573_102061443	102047641	G G	GTGTGTGT others(25): Show GTGTGTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01192.hp1 HG02615.hp2 others(2): Show HG00733.hp2 HG01192.hp1 HG02615.hp2 HG03704.hp2 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0017 a0001c0001 a0001c0017	a0001c0001t0003 a0001c0001t0013 a0001c0001t0022 others(2): Show a0001c0001t0003 a0001c0001t0013 a0001c0001t0022 a0001c0001t0042 a0001c0017t0003	a0001c0001t0003g0218 a0001c0001t0013g0181 a0001c0001t0022g0191 others(2): Show a0001c0001t0003g0218 a0001c0001t0013g0181 a0001c0001t0022g0191 a0001c0001t0042g0204 a0001c0017t0003g0225	5	280	0.0179	32	c.130 others(51): Show c.13007-175_13007-174insGTGTGTGTATATATATATATATATAT ATATAT	DYNC1H1	ENSG00000197102.14	transcript	ENST00000360184.10	protein_coding	72/77		INFO_REALIGN_3_PRIME	chr14	TogoVar
DYNC1H1_chr14_101959573_102061443	102047641	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0005 a0001c0009t0005	a0001c0009t0005g0003 a0001c0009t0005g0003	1	280	0.0036	32	c.130 others(51): Show c.13007-175_13007-174insGTGTGTGTGTATATATATATATATAT ATATAT	DYNC1H1	ENSG00000197102.14	transcript	ENST00000360184.10	protein_coding	72/77		INFO_REALIGN_3_PRIME	chr14	TogoVar
DYNC1I1_chr7_95767554_96103424	95823952	C C	CTATATAT others(25): Show CTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01358.hp1 HG02965.hp1 HG01243.hp2 HG01358.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0001c0001t0001 a0001c0001t0002 a0001c0006t0001	a0001c0001t0001g0147 a0001c0001t0002g0090 a0001c0006t0001g0216 a0001c0001t0001g0147 a0001c0001t0002g0090 a0001c0006t0001g0216	3	230	0.0130	32	c.315 others(49): Show c.315-4078_315-4077insATATATATATATATATATATATATATAT ATAT	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC1LI1_chr3_32520974_32575858	32532485	G G	GTATATAT others(25): Show GTATATATATATGTATGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0287 a0001c0004t0002g0287	1	336	0.0030	32	c.108 others(49): Show c.1080+500_1080+501insTATATATATATATATACATACATATATA TATA	DYNC1LI1	ENSG00000144635.9	transcript	ENST00000273130.9	protein_coding	8/12			chr3	TogoVar
DYNC2I2_chr9_128628653_128661847	128650526	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0291 a0001c0003t0001g0291	1	368	0.0027	32	c.186 others(49): Show c.186+6014_186+6015insATATATATATATATATATATATATATAT ATAT	DYNC2I2	ENSG00000119333.12	transcript	ENST00000372715.7	protein_coding	1/8			chr9	TogoVar
DYNLT1_chr6_158631474_158649743	158636069	A A	ATATATAT others(25): Show ATATATATATATATATTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	396	0.0025	32	c.75 others(41): Show c.757_*758insAAAAAAAAAAAAAAAAAATATATATATATATA	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		404		chr6	TogoVar
DYNLT2B_chr3_196286219_196323240	196316894	T T	TGTGTGTG others(25): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTTGTGTG	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	330	0.0030	32	c.114 others(47): Show c.114-664_114-663insCACACAACACACACACACACACACACACAC AC	DYNLT2B	ENSG00000213123.11	transcript	ENST00000325318.10	protein_coding	1/4			chr3	TogoVar
DYNLT2B_chr3_196286219_196323240	196317389	T T	TGTGTGTG others(25): Show TGTGTGTGTGTGTGTTGTGTGGTGTGTGTGTGG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02132.hp1 HG02165.hp1 others(20): Show HG01361.hp1 HG02132.hp1 HG02165.hp1 HG02165.hp2 HG02602.hp2 HG03688.hp1 HG03710.hp2 HG03942.hp1 NA18747.hp1 NA18941.hp1 NA18947.hp1 NA18947.hp2 NA18990.hp1 NA18992.hp1 NA19060.hp2 NA19063.hp1 NA19067.hp1 NA19070.hp2 NA19083.hp2 NA19090.hp1 NA19090.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0039 a0001c0001t0001g0040 others(15): Show a0001c0001t0001g0016 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0159 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191	23	330	0.0697	32	c.113 others(47): Show c.113+650_113+651insCCACACACACACCACACAACACACACACAC AC	DYNLT2B	ENSG00000213123.11	transcript	ENST00000325318.10	protein_coding	1/4			chr3	TogoVar
DYRK1A_chr21_37361773_37531358	37440130	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA19009.hp1 HG02015.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0160 a0001c0001t0004 a0001c0001t0160	a0001c0001t0004g0220 a0001c0001t0160g0177 a0001c0001t0004g0220 a0001c0001t0160g0177	2	350	0.0057	32	c.10+ others(49): Show c.10+19769_10+19770insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK4_chr12_4557208_4618875	4575298	A A	ATTGTGTG others(25): Show ATTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0224 a0001c0005t0001g0224	1	414	0.0024	32	c.132 others(49): Show c.132+7250_132+7251insTTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	DYRK4	ENSG00000010219.14	transcript	ENST00000543431.6	protein_coding	2/14			chr12	TogoVar
DYRK4_chr12_4557208_4618875	4607960	C C	CACGACTC others(25): Show CACGACTCATTCATAGTGCTAGAAGACTCTCCA	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0369 a0001c0002t0001g0369	1	414	0.0024	32	c.136 others(49): Show c.1360+573_1360+574insACGACTCATTCATAGTGCTAGAAGACTC TCCA	DYRK4	ENSG00000010219.14	transcript	ENST00000543431.6	protein_coding	12/14			chr12	TogoVar
DYSF_chr2_71448561_71691763	71522431	T T	TACAGACA others(25): Show TACAGACACCTAGTACTCACTCAGTAGCTAATG	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18952.hp2 NA18947.hp2 NA18952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0160 a0001c0002t0001g0161	2	192	0.0104	32	c.105 others(51): Show c.1053+1527_1053+1528insACAGACACCTAGTACTCACTCAGTAG CTAATG	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	11/54			chr2	TogoVar
DYSF_chr2_71448561_71691763	71560417	G G	GCCCCAGC others(25): Show GCCCCAGCACAGGGCTCCGGCCCAGGCCCCCCC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG03139.hp2 NA19030.hp2 HG00438.hp1 HG03139.hp2 NA19030.hp2	a0002 a0002	a0002c0022 a0002c0023 a0002c0067 a0002c0022 a0002c0023 a0002c0067	a0002c0022t0001 a0002c0023t0002 a0002c0067t0001 a0002c0022t0001 a0002c0023t0002 a0002c0067t0001	a0002c0022t0001g0001 a0002c0023t0002g0017 a0002c0067t0001g0038 a0002c0022t0001g0001 a0002c0023t0002g0017 a0002c0067t0001g0038	3	192	0.0156	32	c.216 others(51): Show c.2163-1331_2163-1330insAGCACAGGGCTCCGGCCCAGGCCCCC CCCCCC	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	22/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71522431	T T	TACAGACA others(25): Show TACAGACACCTAGTACTCACTCAGTAGCTAATG	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18952.hp2 NA18947.hp1 NA18952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0164 a0001c0002t0002g0165 a0001c0002t0002g0164 a0001c0002t0002g0165	2	208	0.0096	32	c.114 others(51): Show c.1149+1527_1149+1528insACAGACACCTAGTACTCACTCAGTAG CTAATG	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	12/55			chr2	TogoVar
DYSF_chr2_71461699_71691763	71560417	G G	GCCCCAGC others(25): Show GCCCCAGCACAGGGCTCCGGCCCAGGCCCCCCC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG03139.hp2 NA19030.hp2 HG00438.hp1 HG03139.hp2 NA19030.hp2	a0002 a0002	a0002c0022 a0002c0023 a0002c0070 a0002c0022 a0002c0023 a0002c0070	a0002c0022t0001 a0002c0023t0001 a0002c0070t0001 a0002c0022t0001 a0002c0023t0001 a0002c0070t0001	a0002c0022t0001g0201 a0002c0023t0001g0036 a0002c0070t0001g0079 a0002c0022t0001g0201 a0002c0023t0001g0036 a0002c0070t0001g0079	3	208	0.0144	32	c.221 others(51): Show c.2217-1331_2217-1330insAGCACAGGGCTCCGGCCCAGGCCCCC CCCCCC	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	22/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
DZIP1_chr13_95573202_95649706	95575590	C C	CGTGTGTG others(25): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0011 a0003c0003t0011	a0003c0003t0011g0003 a0003c0003t0011g0003	1	382	0.0026	32	c.66 others(43): Show c.6643_*6644insACACACACACACACACACACACACACACACAC	DZIP1	ENSG00000134874.18	transcript	ENST00000376829.7	protein_coding		2611		chr13	TogoVar
DZIP1_chr13_95573202_95649706	95639355	C C	CTGAGGTG others(25): Show CTGAGGTGGGTGGATCACTTGAGGTCAGGAGTT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0293 a0002c0002t0019g0293	1	382	0.0026	32	c.597 others(49): Show c.597+1908_597+1939dupAACTCCTGACCTCAAGTGATCCACCCAC CTCA	DZIP1	ENSG00000134874.18	transcript	ENST00000376829.7	protein_coding	5/22			chr13	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(25): Show ACACACACACACACACACACATACACTCTCTCT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02145.hp2 HG02602.hp2 HG01515.hp2 HG02145.hp2 HG02602.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0225 a0001c0002t0001g0242 a0001c0002t0001g0263 a0001c0002t0001g0225 a0001c0002t0001g0242 a0001c0002t0001g0263	3	318	0.0094	32	c.696 others(49): Show c.696+1880_696+1881insACACACACACACACACACATACACTCTC TCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(25): Show ACACACACACACACACACACTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA19012.hp2 HG02717.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0095 a0001c0001t0001g0056 a0001c0001t0001g0095	2	318	0.0063	32	c.696 others(49): Show c.696+1880_696+1881insACACACACACACACACACTCTCTCTCTC TCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(25): Show ACACACACACACACACACATACACTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0265 a0001c0002t0001g0265	1	318	0.0031	32	c.696 others(49): Show c.696+1880_696+1881insACACACACACACACACATACACTCTCTC TCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(25): Show ACACACACACACACACACTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03492.hp2 NA18959.hp1 others(3): Show HG02886.hp2 HG03492.hp2 NA18959.hp1 NA19001.hp1 NA19004.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0055 a0001c0001t0001g0071 a0001c0001t0001g0074 others(3): Show a0001c0001t0001g0055 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0014g0086	6	318	0.0189	32	c.696 others(49): Show c.696+1880_696+1881insACACACACACACACACTCTCTCTCTCTC TCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(25): Show ACACACACACACACACTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	318	0.0031	32	c.696 others(49): Show c.696+1880_696+1881insACACACACACACACTCTCTCTCTCTCTC TCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(25): Show ACACACACACACACATACACACTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0221 a0003c0006t0002g0221	1	318	0.0031	32	c.696 others(49): Show c.696+1880_696+1881insACACACACACACATACACACTCTCTCTC TCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(25): Show ACACACACACACACTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18970.hp2 NA18971.hp1 HG02040.hp1 NA18970.hp2 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0084 a0001c0001t0001g0101 a0001c0001t0001g0031 a0001c0001t0001g0084 a0001c0001t0001g0101	3	318	0.0094	32	c.696 others(49): Show c.696+1880_696+1881insACACACACACACTCTCTCTCTCTCTCTC TCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(25): Show ACACACACACACTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	318	0.0031	32	c.696 others(49): Show c.696+1880_696+1881insACACACACACTCTCTCTCTCTCTCTCTC TCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(25): Show ACACACACACTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	318	0.0031	32	c.696 others(49): Show c.696+1880_696+1881insACACACACTCTCTCTCTCTCTCTCTCTC TCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(25): Show ACACACACTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	318	0.0031	32	c.696 others(49): Show c.696+1880_696+1881insACACACTCTCTCTCTCTCTCTCTCTCTC TCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACTC others(25): Show ACACACTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	318	0.0031	32	c.696 others(49): Show c.696+1880_696+1881insACACTCTCTCTCTCTCTCTCTCTCTCTC TCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
E2F6_chr2_11439375_11471161	11466855	G G	GCCTGCCT others(25): Show GCCTGCCTGCCTGCCTGCCTTCCTTCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG02145.hp1 HG02280.hp1 others(2): Show HG00639.hp1 HG02145.hp1 HG02280.hp1 HG03540.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0016 a0001c0001t0003 a0001c0001t0016	a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0176 others(2): Show a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0016g0178	5	366	0.0137	32	c.-97 others(41): Show c.-977_-976insAAGGAAGGAAGGAAGGCAGGCAGGCAGGCAGG	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding		695		chr2	TogoVar
E2F6_chr2_11439375_11471161	11466855	G G	GCCTGCCT others(25): Show GCCTGCCTGCCTGCCTTCCTTCCTTCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02630.hp1 HG02965.hp1 HG02451.hp2 HG02630.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0009 a0001c0001t0007 a0001c0001t0009	a0001c0001t0007g0084 a0001c0001t0009g0053 a0001c0001t0009g0054 a0001c0001t0007g0084 a0001c0001t0009g0053 a0001c0001t0009g0054	3	366	0.0082	32	c.-97 others(41): Show c.-977_-976insAAGGAAGGAAGGAAGGAAGGCAGGCAGGCAGG	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding		695		chr2	TogoVar
E2F6_chr2_11439375_11471161	11468855	A A	AAAAAAAA others(25): Show AAAAAAAATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0059 a0001c0001t0008g0059	1	366	0.0027	32	c.-29 others(43): Show c.-2977_-2976insATATATATATATATATATATATATATTTTTTT	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding		2695		chr2	TogoVar
EBF4_chr20_2687780_2765108	2748067	A A	AGATGTGC others(25): Show AGATGTGCTATATGGGTGATGAGCATATACTGT	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	388	0.0026	32	c.558 others(47): Show c.558-479_558-448dupTGTGCTATATGGGTGATGAGCATATACTGT GA	EBF4	ENSG00000088881.22	transcript	ENST00000609451.6	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr20	TogoVar
ECHS1_chr10_133357485_133378354	133373698	C C	CGCCCGCC others(25): Show CGCCCGCCTGCCCGCCTGCCCGCCTGCCCGCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	354	0.0028	32	c.-36 others(41): Show c.-366_-365insAGGCGGGCAGGCGGGCAGGCGGGCAGGCGGGC	ECHS1	ENSG00000127884.5	transcript	ENST00000368547.4	protein_coding		345		chr10	TogoVar
ECM2_chr9_92490315_92540990	92533328	A A	AAAAAATA others(25): Show AAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	400	0.0025	32	c.-28 others(49): Show c.-28+2604_-28+2605insATATATATATATATATATATATATATAT TTTT	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	1/9			chr9	TogoVar
ECM2_chr9_92490315_92540990	92533328	A A	AAAATATA others(25): Show AAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	400	0.0025	32	c.-28 others(49): Show c.-28+2604_-28+2605insATATATATATATATATATATATATATAT ATTT	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	1/9			chr9	TogoVar
ECPAS_chr9_111355685_111489383	111407403	G G	GAAAAAAA others(25): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	354	0.0028	32	c.265 others(51): Show c.2652+1136_2652+1167dupTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	ECPAS	ENSG00000136813.15	transcript	ENST00000684092.1	protein_coding	24/49			chr9	TogoVar
ECPAS_chr9_111355685_111489383	111468689	C C	CGTGTGTG others(25): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG03654.hp2 HG03688.hp2 others(5): Show HG02165.hp1 HG03654.hp2 HG03688.hp2 NA18956.hp1 NA18962.hp2 NA19012.hp2 NA19064.hp1 NA19082.hp1	a0002 a0003 a0002 a0003	a0002c0003 a0003c0005 a0002c0003 a0003c0005	a0002c0003t0001 a0002c0003t0003 a0003c0005t0002 a0002c0003t0001 a0002c0003t0003 a0003c0005t0002	a0002c0003t0001g0251 a0002c0003t0003g0290 a0003c0005t0002g0252 others(5): Show a0002c0003t0001g0251 a0002c0003t0003g0290 a0003c0005t0002g0252 a0003c0005t0002g0253 a0003c0005t0002g0254 a0003c0005t0002g0261 a0003c0005t0002g0299 a0003c0005t0002g0300	8	354	0.0226	32	c.22+ others(47): Show c.22+4207_22+4208insACACACACACACACACACACACACACACAC AC	ECPAS	ENSG00000136813.15	transcript	ENST00000684092.1	protein_coding	2/49			chr9	TogoVar
ECSCR_chr5_139443560_139467743	139446465	T T	TTTTCTTT others(25): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	369	0.0027	32	c.24 others(43): Show c.2434_*2435insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding		2094		chr5	TogoVar
ECT2L_chr6_138791087_138909070	138873892	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0271 a0001c0001t0009g0271	1	326	0.0031	32	c.157 others(51): Show c.1579-2563_1579-2562insATGTGTGTGTGTGTATGTGTGTGTGT GTGTGT	ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	13/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
EDARADD_chr1_236389286_236489930	236405874	C C	CTTCCTTC others(25): Show CTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG04115.hp1 NA18960.hp1 HG03453.hp1 HG04115.hp1 NA18960.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0004 a0001c0003t0001 a0002c0002t0006 a0001c0001t0004 a0001c0003t0001 a0002c0002t0006	a0001c0001t0004g0080 a0001c0003t0001g0032 a0002c0002t0006g0227 a0001c0001t0004g0080 a0001c0003t0001g0032 a0002c0002t0006g0227	3	294	0.0102	32	c.62- others(47): Show c.62-3339_62-3338insCTTCCTTCCTTCCTTCTTTCTTTCTTTCTT TC	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar

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