Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ESRRG_chr1_216498251_216728429	216658896	A A	AAGAGAAG others(18): Show AAGAGAAGAGAAGAGAAGAGAAGAGG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0044 a0001c0003t0002g0044	1	286	0.0035	25	c.473 others(42): Show c.473-7808_473-7807insCCTCTTCTCTTCTCTTCTCTTCTCT	ESRRG	ENSG00000196482.18	transcript	ENST00000408911.8	protein_coding	2/6			chr1	TogoVar
ESS2_chr22_19125279_19149651	19128634	A A	AAGGGGAG others(18): Show AAGGGGAGGGGAGGGGAGGGGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0141 a0001c0017t0001g0141	1	432	0.0023	25	c.55 others(36): Show c.5561_*5562insCCCCTCCCCTCCCCTCCCCTCCCCT	ESS2	ENSG00000100056.12	transcript	ENST00000252137.11	protein_coding		1644		chr22	TogoVar
ESYT2_chr7_158725997_158834509	158729396	G G	GCGTGGAG others(18): Show GCGTGGAGGTGGGGGGAGGAGCAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01257.hp1 HG01258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0003 a0002c0002t0006g0003	2	370	0.0054	25	c.48 others(36): Show c.4810_*4811insATTTGCTCCTCCCCCCACCTCCACG	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding		1600		chr7	TogoVar
ESYT2_chr7_158725997_158834509	158729617	G G	GCTCGGGG others(18): Show GCTCGGGGGAGCAGTGTGGAGATGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02818.hp2 HG03540.hp2 others(1): Show HG02258.hp2 HG02818.hp2 HG03540.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0017 a0001c0001t0014 a0001c0001t0017	a0001c0001t0014g0186 a0001c0001t0014g0187 a0001c0001t0017g0192 others(1): Show a0001c0001t0014g0186 a0001c0001t0014g0187 a0001c0001t0017g0192 a0001c0001t0017g0193	4	370	0.0108	25	c.45 others(36): Show c.4589_*4590insAACATCTCCACACTGCTCCCCCGAG	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding		1379		chr7	TogoVar
ESYT3_chr3_138429616_138484925	138443756	G G	GTGTGTGT others(18): Show GTGTGTGTGTGTGTGTGTGTGTGACT	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0006 a0003c0003t0006	a0003c0003t0006g0080 a0003c0003t0006g0080	1	338	0.0030	25	c.328 others(42): Show c.328-8292_328-8291insTGTGTGTGTGTGTGTGTGTGTGACT	ESYT3	ENSG00000158220.14	transcript	ENST00000389567.9	protein_coding	1/22			chr3	TogoVar
ETF1_chr5_138501095_138548236	138501222	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	334	0.0030	25	c.70 others(36): Show c.7082_*7083insTTTTTTTTTTTTTTTTTTTTTTTTT	ETF1	ENSG00000120705.13	transcript	ENST00000360541.10	protein_coding		4872		chr5	TogoVar
ETF1_chr5_138501095_138548236	138512225	A A	AAAAAAAT others(18): Show AAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	334	0.0030	25	c.732 others(40): Show c.732+538_732+539insATATATATATATATATATATTTTTT	ETF1	ENSG00000120705.13	transcript	ENST00000360541.10	protein_coding	6/10			chr5	TogoVar
ETF1_chr5_138501095_138548236	138512225	A A	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	334	0.0030	25	c.732 others(40): Show c.732+538_732+539insATATATATATATATATATATATTTT	ETF1	ENSG00000120705.13	transcript	ENST00000360541.10	protein_coding	6/10			chr5	TogoVar
ETF1_chr5_138501095_138548236	138512259	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	334	0.0030	25	c.732 others(40): Show c.732+504_732+505insTATATATATATATATATATATATAT	ETF1	ENSG00000120705.13	transcript	ENST00000360541.10	protein_coding	6/10			chr5	TogoVar
ETFA_chr15_76210353_76316469	76295936	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02630.hp1 homoSapiens_chm13v2.hp1 HG02145.hp1 HG02630.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0212 a0001c0001t0003g0264 a0001c0001t0003g0277 a0001c0001t0002g0212 a0001c0001t0003g0264 a0001c0001t0003g0277	3	336	0.0089	25	c.40- others(38): Show c.40-200_40-199insAAAAAAAAAAAAAAAAAAAAAAAAA	ETFA	ENSG00000140374.17	transcript	ENST00000557943.6	protein_coding	1/11			chr15	TogoVar
ETFA_chr15_76210353_76316469	76310068	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03710.hp2 NA18946.hp1 NA18988.hp2 others(1): Show HG03710.hp2 NA18946.hp1 NA18988.hp2 NA19091.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0255 a0002c0002t0004g0256 a0002c0002t0004g0257 others(1): Show a0002c0002t0004g0255 a0002c0002t0004g0256 a0002c0002t0004g0257 a0002c0002t0004g0284	4	336	0.0119	25	c.39+ others(40): Show c.39+1257_39+1281dupTTTTTTTTTTTTTTTTTTTTTTTTT	ETFA	ENSG00000140374.17	transcript	ENST00000557943.6	protein_coding	1/11			chr15	TogoVar
ETFA_chr15_76210353_76316469	76311932	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp2 HG03688.hp1 NA19030.hp2 HG02004.hp2 HG03688.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0215 a0001c0001t0002g0220 a0001c0001t0003g0087 a0001c0001t0002g0215 a0001c0001t0002g0220 a0001c0001t0003g0087	3	336	0.0089	25	c.-54 others(34): Show c.-545_-544insAAAAAAAAAAAAAAAAAAAAAAAAA	ETFA	ENSG00000140374.17	transcript	ENST00000557943.6	protein_coding		464		chr15	TogoVar
ETFRF1_chr12_25190237_25210143	25202063	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0133 a0001c0001t0003g0133	1	390	0.0026	25	c.-37 others(42): Show c.-37-1837_-37-1836insAAAAAAAAAAAAAAAAAAAAAAAAA	ETFRF1	ENSG00000205707.11	transcript	ENST00000381356.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
ETNK1_chr12_22620171_22695665	22632593	T T	TTGTACTC others(18): Show TTGTACTCCTGAGCTCACGCCATCCC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0149 a0001c0001t0010g0149	1	318	0.0031	25	c.156 others(42): Show c.156+7026_156+7027insCATCCCTGTACTCCTGAGCTCACGC	ETNK1	ENSG00000139163.16	transcript	ENST00000266517.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
ETNPPL_chr4_108737053_108768053	108753800	G G	GAAAGAAA others(18): Show GAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0001 a0008c0007t0001	a0008c0007t0001g0105 a0008c0007t0001g0105	1	378	0.0027	25	c.502 others(40): Show c.502-790_502-789insTCTTTCTTTCTTTCTTTCTTTCTTT	ETNPPL	ENSG00000164089.9	transcript	ENST00000296486.8	protein_coding	5/12			chr4	TogoVar
ETS1_chr11_128453765_128592558	128548112	G G	GAAGGAAA others(18): Show GAAGGAAAGGAAAGGAAAGGAAAGGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG02056.hp2 others(10): Show HG00140.hp1 HG00408.hp2 HG02056.hp2 HG02300.hp1 HG02922.hp2 HG03098.hp1 HG03130.hp2 HG03209.hp2 HG03486.hp2 NA18990.hp2 NA19001.hp1 NA19056.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007	a0001c0001t0004 a0001c0001t0006 a0001c0001t0018 others(6): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0018 a0001c0002t0003 a0001c0002t0007 a0001c0002t0011 a0001c0002t0013 a0001c0003t0004 a0001c0007t0001	a0001c0001t0004g0051 a0001c0001t0004g0075 a0001c0001t0004g0115 others(10): Show a0001c0001t0004g0051 a0001c0001t0004g0075 a0001c0001t0004g0115 a0001c0001t0006g0033 a0001c0001t0006g0205 a0001c0001t0018g0076 a0001c0002t0003g0059 a0001c0002t0003g0212 a0001c0002t0007g0136 a0001c0002t0011g0186 a0001c0002t0013g0021 a0001c0003t0004g0208 a0001c0007t0001g0071	13	286	0.0455	25	c.214 others(42): Show c.214+8178_214+8179insTCCTTTCCTTTCCTTTCCTTTCCTT	ETS1	ENSG00000134954.14	transcript	ENST00000392668.8	protein_coding	3/9			chr11	TogoVar
ETS1_chr11_128453765_128592558	128548127	A A	AAAGGGAA others(18): Show AAAGGGAAGGAAAGGGAAGGGAAGGG	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA19240.hp1 HG02572.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0119 a0001c0001t0004g0168 a0001c0001t0004g0119 a0001c0001t0004g0168	2	286	0.0070	25	c.214 others(42): Show c.214+8163_214+8164insCCCTTCCCTTCCCTTTCCTTCCCTT	ETS1	ENSG00000134954.14	transcript	ENST00000392668.8	protein_coding	3/9			chr11	TogoVar
ETS1_chr11_128453765_128592558	128548132	A A	AAAGGGAA others(18): Show AAAGGGAAGGGAAGGGAAGGGAAGGG	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA19043.hp2 HG02451.hp1 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0007 a0001c0002t0002 a0001c0002t0007	a0001c0002t0002g0124 a0001c0002t0007g0004 a0001c0002t0002g0124 a0001c0002t0007g0004	2	286	0.0070	25	c.214 others(42): Show c.214+8158_214+8159insCCCTTCCCTTCCCTTCCCTTCCCTT	ETS1	ENSG00000134954.14	transcript	ENST00000392668.8	protein_coding	3/9			chr11	TogoVar
ETV2_chr19_35636745_35649871	35638908	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG02735.hp2 HG01081.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	438	0.0046	25	c.-32 others(36): Show c.-3276_-3275insAAAAAAAAAAAAAAAAAAAAAAAAA	ETV2	ENSG00000105672.15	transcript	ENST00000402764.6	protein_coding		2836		chr19	TogoVar
ETV2_chr19_35636745_35649871	35638924	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAAAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	438	0.0023	25	c.-32 others(36): Show c.-3260_-3259insAAAAAAAAAAAAAAAAAAAAAAAAC	ETV2	ENSG00000105672.15	transcript	ENST00000402764.6	protein_coding		2820		chr19	TogoVar
ETV6_chr12_11644674_11900377	11784862	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0129 a0001c0001t0129	a0001c0001t0129g0069 a0001c0001t0129g0069	1	262	0.0038	25	c.163 others(44): Show c.163+32307_163+32308insTTTTTTTTTTTTTTTTTTTTTTTTT	ETV6	ENSG00000139083.11	transcript	ENST00000396373.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
EVA1A_chr2_75487318_75565939	75555336	T T	TCTCTCTC others(18): Show TCTCTCTCTCTCTCTCTCTCTCTCCC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0344 a0001c0001t0002g0344	1	384	0.0026	25	c.-19 others(44): Show c.-192+5343_-192+5344insGGGAGAGAGAGAGAGAGAGAGAGAG	EVA1A	ENSG00000115363.14	transcript	ENST00000393913.8	protein_coding	1/3			chr2	TogoVar
EVA1A_chr2_75487318_75565939	75555336	T T	TCTCTCTC others(18): Show TCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01070.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0295 a0001c0001t0004g0296 a0001c0001t0004g0295 a0001c0001t0004g0296	2	384	0.0052	25	c.-19 others(44): Show c.-192+5343_-192+5344insGAGAGAGAGAGAGAGAGAGAGAGAG	EVA1A	ENSG00000115363.14	transcript	ENST00000393913.8	protein_coding	1/3			chr2	TogoVar
EVA1A_chr2_75487318_75565939	75555337	C C	CTCTCTCT others(18): Show CTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	384	0.0026	25	c.-19 others(44): Show c.-192+5342_-192+5343insAGAGAGAGAGAGAGAGAGAGAGAGA	EVA1A	ENSG00000115363.14	transcript	ENST00000393913.8	protein_coding	1/3			chr2	TogoVar
EVA1C_chr21_32407706_32520387	32408855	C C	CATGGACT others(18): Show CATGGACTGAATGCTGTGACTACAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0124 a0001c0002t0003g0124	1	346	0.0029	25	c.-39 others(36): Show c.-3999_-3998insATGGACTGAATGCTGTGACTACAGA	EVA1C	ENSG00000166979.13	transcript	ENST00000300255.7	protein_coding		3850		chr21	TogoVar
EVI5_chr1_92503696_92790108	92669547	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG03471.hp1 HG01257.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0096 a0001c0001t0001g0101	2	168	0.0119	25	c.115 others(44): Show c.1159-3556_1159-3555insTTTTTTTTTTTTTTTTTTTTTTTTT	EVI5	ENSG00000067208.17	transcript	ENST00000684568.2	protein_coding	10/19			chr1	TogoVar
EVPLL_chr17_18372778_18394647	18373800	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0003 a0001c0003t0002g0003	1	408	0.0025	25	c.-42 others(36): Show c.-4220_-4219insAAAAAAAAAAAAAAAAAAAAAAAAA	EVPLL	ENSG00000214860.5	transcript	ENST00000399134.5	protein_coding		3977		chr17	TogoVar
EVX2_chr2_176072472_176088962	176084733	A A	AGAGAGAG others(18): Show AGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	430	0.0023	25	c.-95 others(34): Show c.-958_-957insCTCTCTCTCTCTCTCTCTCTCTCTC	EVX2	ENSG00000174279.5	transcript	ENST00000308618.5	protein_coding		772		chr2	TogoVar
EXD1_chr15_41177728_41235757	41213501	T T	TTTTTGTT others(18): Show TTTTTGTTTTGTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp1 HG01109.hp1 others(53): Show HG00544.hp1 HG00558.hp1 HG01109.hp1 HG01243.hp1 HG01928.hp2 HG01975.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02132.hp2 HG02165.hp2 HG02257.hp1 HG02280.hp1 HG02293.hp1 HG02486.hp2 HG02559.hp2 HG02698.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG03130.hp1 HG03516.hp1 HG03579.hp1 HG03579.hp2 NA18522.hp1 NA18612.hp1 NA18906.hp1 NA18942.hp1 NA18945.hp1 NA18957.hp1 NA18961.hp1 NA18964.hp2 NA18966.hp1 NA18968.hp1 NA18971.hp1 NA18975.hp1 NA18978.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18988.hp2 NA18989.hp1 NA18995.hp2 NA19001.hp1 NA19004.hp2 NA19011.hp1 NA19055.hp2 NA19063.hp2 NA19064.hp1 NA19082.hp2 NA19083.hp2 NA19085.hp2 NA19088.hp2 NA20129.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0001c0002 a0001c0011 others(4): Show a0001c0001 a0001c0002 a0001c0011 a0002c0004 a0002c0013 a0003c0007 a0008c0012	a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 others(5): Show a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0011t0001 a0002c0004t0001 a0002c0013t0001 a0003c0007t0003 a0008c0012t0003	a0001c0001t0003g0011 a0001c0001t0003g0030 a0001c0001t0003g0031 others(52): Show a0001c0001t0003g0011 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0082 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0004g0005 a0001c0001t0004g0017 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0029 a0001c0001t0004g0045 a0001c0001t0004g0055 a0001c0001t0004g0056 a0001c0001t0004g0072 a0001c0001t0004g0076 a0001c0002t0001g0041 a0001c0011t0001g0071 a0002c0004t0001g0001 a0002c0004t0001g0006 a0002c0004t0001g0084 a0002c0004t0001g0129 a0002c0013t0001g0032 a0003c0007t0003g0078 a0003c0007t0003g0079 a0003c0007t0003g0080 a0008c0012t0003g0132	56	318	0.1761	25	c.447 others(42): Show c.447+2249_447+2273dupCAAAACAAAACAAAACAAAACAAAA	EXD1	ENSG00000178997.12	transcript	ENST00000458580.7	protein_coding	6/11			chr15	TogoVar
EXD3_chr9_137301896_137428162	137346238	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01884.hp2 HG00423.hp2 HG01884.hp2	a0003 a0019 a0003 a0019	a0003c0003 a0019c0019 a0003c0003 a0019c0019	a0003c0003t0001 a0019c0019t0001 a0003c0003t0001 a0019c0019t0001	a0003c0003t0001g0073 a0019c0019t0001g0022 a0003c0003t0001g0073 a0019c0019t0001g0022	2	82	0.0244	25	c.199 others(44): Show c.1998+1808_1998+1832dupTTTTTTTTTTTTTTTTTTTTTTTTT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137408546	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0030 a0002c0002t0001g0030	1	82	0.0122	25	c.-47 others(44): Show c.-47-13143_-47-13142insTTTTTTTTTTTTTTTTTTTTTTTTT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	1/21			chr9	TogoVar
EXOC2_chr6_480154_698139	501614	C C	CTATATAT others(18): Show CTATATATAATATCTATATTATATTA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01175.hp1 HG01261.hp1 others(22): Show HG01106.hp1 HG01175.hp1 HG01261.hp1 HG01517.hp2 HG02074.hp1 HG02970.hp2 HG03491.hp1 HG03492.hp2 HG03704.hp2 HG03927.hp2 HG04184.hp1 HG04199.hp1 NA18612.hp2 NA18747.hp1 NA18954.hp2 NA18971.hp2 NA18972.hp2 NA18988.hp2 NA18999.hp1 NA19055.hp1 NA19072.hp1 NA19074.hp2 NA19077.hp2 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0022 a0001c0003t0003 a0001c0003t0009 a0001c0004t0005 a0001c0017t0005	a0001c0001t0001g0016 a0001c0001t0001g0062 a0001c0001t0001g0077 others(22): Show a0001c0001t0001g0016 a0001c0001t0001g0062 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0086 a0001c0001t0001g0181 a0001c0001t0001g0247 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0002g0238 a0001c0001t0002g0260 a0001c0001t0003g0074 a0001c0001t0003g0246 a0001c0001t0004g0104 a0001c0001t0004g0145 a0001c0001t0005g0091 a0001c0001t0005g0258 a0001c0001t0022g0214 a0001c0003t0003g0012 a0001c0003t0003g0173 a0001c0003t0003g0182 a0001c0003t0009g0149 a0001c0004t0005g0224 a0001c0004t0005g0225 a0001c0017t0005g0082	25	272	0.0919	25	c.238 others(44): Show c.2381-1915_2381-1914insTAATATAATATAGATATTATATATA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC3L2_chr19_45207370_45250407	45229188	A A	AATTAAAT others(18): Show AATTAAATATATACATATATTTATGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00423.hp2 others(37): Show HG00099.hp1 HG00099.hp2 HG00423.hp2 HG00558.hp2 HG00621.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01358.hp2 HG01891.hp1 HG02056.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02155.hp1 HG02273.hp2 HG02451.hp1 HG02486.hp1 HG02630.hp2 HG02895.hp2 HG02897.hp2 HG02970.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03710.hp2 HG06807.hp2 NA18950.hp2 NA18955.hp2 NA18973.hp2 NA19000.hp2 NA19043.hp1 NA19085.hp2 NA19087.hp2 homoSapiens_chm13v2.hp1	a0001 a0006 a0007 others(2): Show a0001 a0006 a0007 a0009 a0013	a0001c0001 a0001c0002 a0001c0007 others(7): Show a0001c0001 a0001c0002 a0001c0007 a0001c0012 a0001c0017 a0001c0024 a0006c0014 a0007c0025 a0009c0019 a0013c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0002t0001 a0001c0002t0004 a0001c0002t0008 a0001c0007t0001 a0001c0007t0004 a0001c0012t0001 a0001c0017t0001 a0001c0024t0002 a0006c0014t0001 a0006c0014t0005 a0007c0025t0001 a0009c0019t0001 a0013c0023t0009	a0001c0001t0001g0070 a0001c0001t0001g0085 a0001c0001t0001g0112 others(37): Show a0001c0001t0001g0070 a0001c0001t0001g0085 a0001c0001t0001g0112 a0001c0001t0001g0132 a0001c0001t0001g0153 a0001c0001t0001g0173 a0001c0001t0001g0209 a0001c0001t0001g0239 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0265 a0001c0001t0001g0293 a0001c0001t0002g0022 a0001c0001t0002g0077 a0001c0001t0002g0095 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0105 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0010g0025 a0001c0002t0001g0142 a0001c0002t0004g0092 a0001c0002t0008g0061 a0001c0002t0008g0063 a0001c0007t0001g0060 a0001c0007t0004g0064 a0001c0012t0001g0014 a0001c0012t0001g0015 a0001c0012t0001g0016 a0001c0017t0001g0344 a0001c0024t0002g0018 a0006c0014t0001g0306 a0006c0014t0001g0308 a0006c0014t0005g0307 a0007c0025t0001g0062 a0009c0019t0001g0213 a0013c0023t0009g0348	40	356	0.1124	25	c.127 others(42): Show c.1270-947_1270-923dupACATAAATATATGTATATATTTAAT	EXOC3L2	ENSG00000283632.4	transcript	ENST00000413988.3	protein_coding	4/11			chr19	TogoVar
EXOC4_chr7_133248078_134070761	133558191	C C	CTTTTCTT others(18): Show CTTTTCTTTTCTTTTCTTTTCTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA19043.hp1 HG02622.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0055 a0001c0002t0002g0071 a0001c0001t0003g0055 a0001c0002t0002g0071	2	102	0.0196	25	c.141 others(46): Show c.1418-71830_1418-71829insTTTTTCTTTTCTTTTCTTTTCTTT T	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133558196	C C	CTTTTCTT others(18): Show CTTTTCTTTTCTTTTCTTTTCTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02080.hp1 HG02559.hp2 others(1): Show HG02055.hp2 HG02080.hp1 HG02559.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0005 others(1): Show a0001c0002 a0001c0003 a0001c0005 a0001c0008	a0001c0002t0002 a0001c0003t0001 a0001c0005t0012 others(1): Show a0001c0002t0002 a0001c0003t0001 a0001c0005t0012 a0001c0008t0015	a0001c0002t0002g0079 a0001c0003t0001g0023 a0001c0005t0012g0024 others(1): Show a0001c0002t0002g0079 a0001c0003t0001g0023 a0001c0005t0012g0024 a0001c0008t0015g0078	4	102	0.0392	25	c.141 others(46): Show c.1418-71825_1418-71824insTTTTTCTTTTCTTTTCTTTTCTTT T	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	134053237	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0065 a0001c0002t0006g0065	1	102	0.0098	25	c.268 others(46): Show c.2688-11039_2688-11038insAAAAAAAAAAAAAAAAAAAAAAAA A	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC5_chr14_57195507_57273905	57201570	A A	ATATATAT others(18): Show ATATATATATATATATATATAAATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0135 a0001c0001t0049g0135	1	214	0.0047	25	c.70 others(36): Show c.7038_*7039insATATTTATATATATATATATATATA	EXOC5	ENSG00000070367.17	transcript	ENST00000621441.5	protein_coding	18/18	7038		chr14	TogoVar
EXOC6B_chr2_72170984_72831033	72307161	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0066 a0001c0002t0002g0066	1	104	0.0096	25	c.219 others(46): Show c.2196+27785_2196+27786insAAAAAAAAAAAAAAAAAAAAAAAA A	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	20/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72353349	G G	GTTGTATT others(18): Show GTTGTATTGTATTGTATTGTATTGTA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0013 a0002c0004t0013	a0002c0004t0013g0005 a0002c0004t0013g0005	1	104	0.0096	25	c.212 others(46): Show c.2123-18354_2123-18330dupTACAATACAATACAATACAATACA A	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	19/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72767808	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01261.hp2 HG02280.hp1 HG00735.hp2 HG01261.hp2 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0005 a0001c0003t0001 a0001c0003t0004 a0001c0002t0005 a0001c0003t0001 a0001c0003t0004	a0001c0002t0005g0075 a0001c0003t0001g0082 a0001c0003t0004g0094 a0001c0002t0005g0075 a0001c0003t0001g0082 a0001c0003t0004g0094	3	104	0.0289	25	c.114 others(44): Show c.114-26364_114-26340dupTTTTTTTTTTTTTTTTTTTTTTTTT	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	1/21			chr2	TogoVar
EXT1_chr8_117789490_118116826	117867260	G G	GAAAAAAA others(18): Show GAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02559.hp1 HG02886.hp1 HG02257.hp1 HG02559.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0034 a0001c0002t0017 a0001c0007t0013 a0001c0001t0034 a0001c0002t0017 a0001c0007t0013	a0001c0001t0034g0016 a0001c0002t0017g0188 a0001c0007t0013g0014 a0001c0001t0034g0016 a0001c0002t0017g0188 a0001c0007t0013g0014	3	190	0.0158	25	c.963 others(44): Show c.963-30060_963-30059insTTTTTTTTTTTTTTTTTTTTTTTTT	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	117874575	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp2 NA18983.hp1 others(1): Show HG00738.hp1 HG00738.hp2 NA18983.hp1 NA19000.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0005 a0003c0012 a0001c0002 a0001c0005 a0003c0012	a0001c0002t0002 a0001c0002t0010 a0001c0005t0053 others(1): Show a0001c0002t0002 a0001c0002t0010 a0001c0005t0053 a0003c0012t0001	a0001c0002t0002g0103 a0001c0002t0010g0083 a0001c0005t0053g0068 others(1): Show a0001c0002t0002g0103 a0001c0002t0010g0083 a0001c0005t0053g0068 a0003c0012t0001g0161	4	190	0.0211	25	c.963 others(44): Show c.963-37375_963-37374insTTTTTTTTTTTTTTTTTTTTTTTTT	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	117897591	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0012 a0001c0004t0012	a0001c0004t0012g0171 a0001c0004t0012g0171	1	190	0.0053	25	c.963 others(44): Show c.963-60391_963-60390insAAAAAAAAAAAAAAAAAAAAAAAAA	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	118073632	A A	AAGAAGAG others(18): Show AAGAAGAGAAGAGAAGAGAAGAGAAG	intron_variant intron_variant	MODIFIER	HG01261.hp2 NA18983.hp2 HG01261.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0065 a0001c0001t0007g0150 a0001c0001t0001g0065 a0001c0001t0007g0150	2	190	0.0105	25	c.962 others(44): Show c.962+36428_962+36452dupCTTCTCTTCTCTTCTCTTCTCTTCT	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	118073705	A A	AAGAGAAG others(18): Show AAGAGAAGAGAAGAGAAGAGAAGAGG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0169 a0001c0001t0023g0169	1	190	0.0053	25	c.962 others(44): Show c.962+36379_962+36380insCCTCTTCTCTTCTCTTCTCTTCTCT	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA19009.hp2 NA18953.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0304 a0001c0001t0002g0305	2	392	0.0051	25	c.-68 others(44): Show c.-68-15034_-68-15033insATATATATATATATATATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(18): Show ATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA19065.hp2 HG02572.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0034 a0001c0001t0002 a0001c0001t0034	a0001c0001t0002g0308 a0001c0001t0034g0306 a0001c0001t0002g0308 a0001c0001t0034g0306	2	392	0.0051	25	c.-68 others(44): Show c.-68-15034_-68-15033insAAATATATATATATATATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01358.hp1 HG03453.hp2 others(1): Show HG00738.hp2 HG01358.hp1 HG03453.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 others(1): Show a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0009g0202	4	392	0.0102	25	c.-68 others(44): Show c.-68-15034_-68-15033insAAAAATATATATATATATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0205 a0001c0001t0002g0205	1	392	0.0026	25	c.-68 others(44): Show c.-68-15034_-68-15033insAAAAAAATATATATATATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(18): Show ATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0028 a0001c0001t0016g0028	1	392	0.0026	25	c.-68 others(44): Show c.-68-15034_-68-15033insAAAAAAAAATATATATATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar

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