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
DCX_chrX_111288779_111417192	111342339	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	183	0.0055	22	c.706 others(39): Show c.706-9208_706-9187dupTATATATATATATATATATATA	DCX	ENSG00000077279.21	transcript	ENST00000636035.2	protein_coding	3/6			chrX	TogoVar
DDA1_chr19_17304563_17328298	17315429	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01243.hp2 NA18522.hp2 others(2): Show HG00741.hp1 HG01243.hp2 NA18522.hp2 NA18948.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007	a0001c0001t0004g0230 a0001c0001t0004g0235 a0001c0001t0005g0048 others(1): Show a0001c0001t0004g0230 a0001c0001t0004g0235 a0001c0001t0005g0048 a0001c0001t0007g0184	5	388	0.0129	22	c.137 others(37): Show c.137-500_137-479dupATATATATATATATATATATAT	DDA1	ENSG00000130311.11	transcript	ENST00000359866.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
DDAH1_chr1_85313485_85470159	85331423	G G	GTATGTAT others(15): Show GTATGTATATGTATATATATATA	intron_variant intron_variant	MODIFIER	HG03017.hp1 NA19004.hp2 HG03017.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0114 a0001c0001t0003g0218 a0001c0001t0003g0114 a0001c0001t0003g0218	2	416	0.0048	22	c.598 others(39): Show c.598-6541_598-6540insTATATATATATACATATACATA	DDAH1	ENSG00000153904.21	transcript	ENST00000284031.13	protein_coding	4/5			chr1	TogoVar
DDAH1_chr1_85313485_85470159	85454539	A A	AATGCGTG others(15): Show AATGCGTGATCAGATTTTAACAG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0181 a0001c0001t0012g0181	1	416	0.0024	22	c.303 others(41): Show c.303+10203_303+10204insCTGTTAAAATCTGATCACGCAT	DDAH1	ENSG00000153904.21	transcript	ENST00000284031.13	protein_coding	1/5			chr1	TogoVar
DDHD1_chr14_53031755_53158323	53109422	A A	ATTTTCTA others(15): Show ATTTTCTAGTCTCCTATTTTCTC	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0058 a0001c0001t0014g0058	1	290	0.0035	22	c.839 others(39): Show c.839-5567_839-5566insGAGAAAATAGGAGACTAGAAAA	DDHD1	ENSG00000100523.17	transcript	ENST00000673822.2	protein_coding	1/12			chr14	TogoVar
DDI2_chr1_15612458_15674044	15652058	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0048 a0001c0002t0048	a0001c0002t0048g0097 a0001c0002t0048g0097	1	272	0.0037	22	c.118 others(39): Show c.1183+166_1183+187dupTTTTTTTTTTTTTTTTTTTTTT	DDI2	ENSG00000197312.13	transcript	ENST00000480945.6	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
DDR1_chr6_30879519_30905156	30891527	C C	CTCTGTGT others(15): Show CTCTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02572.hp2 NA18988.hp2 HG02258.hp2 HG02572.hp2 NA18988.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0013 a0001c0006t0002 a0001c0002t0013 a0001c0006t0002	a0001c0002t0013g0075 a0001c0006t0002g0042 a0001c0002t0013g0075 a0001c0006t0002g0042	3	431	0.0070	22	c.665 others(35): Show c.665+49_665+50insCTGTGTGTGTGTGTGTGTGTGT	DDR1	ENSG00000204580.14	transcript	ENST00000376568.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
DDR2_chr1_162627464_162792405	162689841	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02040.hp2 HG02165.hp1 others(10): Show HG02015.hp2 HG02040.hp2 HG02165.hp1 HG02965.hp2 HG03710.hp2 HG06807.hp2 NA18612.hp1 NA18955.hp2 NA18975.hp2 NA18986.hp1 NA19003.hp2 NA19091.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 a0001c0001t0044 a0001c0001t0056 a0001c0001t0058 a0001c0002t0014	a0001c0001t0002g0183 a0001c0001t0002g0186 a0001c0001t0002g0187 others(10): Show a0001c0001t0002g0183 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0163 a0001c0001t0015g0135 a0001c0001t0044g0093 a0001c0001t0056g0166 a0001c0001t0058g0165 a0001c0002t0014g0084	13	302	0.0431	22	c.-27 others(41): Show c.-27-29196_-27-29195insAAAAAAAAAAAAAAAAAAAAAA	DDR2	ENSG00000162733.19	transcript	ENST00000367921.8	protein_coding	2/17			chr1	TogoVar
DDR2_chr1_162627464_162792405	162728186	A A	ATATATAT others(15): Show ATATATATAGATAGATATATCTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02258.hp2 NA19030.hp1 HG02109.hp2 HG02258.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0011 a0001c0005t0011 a0001c0001t0011 a0001c0005t0011	a0001c0001t0011g0103 a0001c0005t0011g0077 a0001c0005t0011g0078 a0001c0001t0011g0103 a0001c0005t0011g0077 a0001c0005t0011g0078	3	302	0.0099	22	c.82+ others(37): Show c.82+9050_82+9071dupGATAGATATATCTTTATATATA	DDR2	ENSG00000162733.19	transcript	ENST00000367921.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
DDR2_chr1_162627464_162792405	162788039	A A	AATATATA others(15): Show AATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0053 a0001c0002t0053	a0001c0002t0053g0296 a0001c0002t0053g0296	1	302	0.0033	22	c.77 others(33): Show c.7793_*7794insATATATATATATATATATATAT	DDR2	ENSG00000162733.19	transcript	ENST00000367921.8	protein_coding		635		chr1	TogoVar
DDX10_chr11_108660069_108945927	108837607	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0154 a0002c0002t0001g0154	1	320	0.0031	22	c.196 others(39): Show c.1966-825_1966-804dupTTTTTTTTTTTTTTTTTTTTTT	DDX10	ENSG00000178105.12	transcript	ENST00000322536.8	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
DDX10_chr11_108660069_108945927	108922243	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	320	0.0031	22	c.245 others(41): Show c.2450+4226_2450+4247dupAAAAAAAAAAAAAAAAAAAAAA	DDX10	ENSG00000178105.12	transcript	ENST00000322536.8	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
DDX19B_chr16_70294186_70340305	70339392	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	336	0.0030	22	c.58 others(33): Show c.5810_*5811insAAAAAAAAAAAAAAAAAAAAAT	DDX19B	ENSG00000157349.17	transcript	ENST00000288071.11	protein_coding		4088		chr16	TogoVar
DDX19B_chr16_70294186_70340305	70339392	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	336	0.0030	22	c.58 others(33): Show c.5810_*5811insAAAAAAAAAAAAAAAAATATAT	DDX19B	ENSG00000157349.17	transcript	ENST00000288071.11	protein_coding		4088		chr16	TogoVar
DDX19B_chr16_70294186_70340305	70339392	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01981.hp2 NA19057.hp2 HG01074.hp2 HG01981.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0015 a0001c0001t0001g0162 a0001c0001t0001g0164	3	336	0.0089	22	c.58 others(33): Show c.5810_*5811insAAAAAAAAAAAAAAATATATAT	DDX19B	ENSG00000157349.17	transcript	ENST00000288071.11	protein_coding		4088		chr16	TogoVar
DDX19B_chr16_70294186_70340305	70339392	A A	AAAAAAAA others(15): Show AAAAAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	336	0.0030	22	c.58 others(33): Show c.5810_*5811insAAAAAAATATATATATATATAT	DDX19B	ENSG00000157349.17	transcript	ENST00000288071.11	protein_coding		4088		chr16	TogoVar
DDX19B_chr16_70294186_70340305	70339392	A A	AAAATATA others(15): Show AAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	336	0.0030	22	c.58 others(33): Show c.5810_*5811insAAATATATATATATATATATAT	DDX19B	ENSG00000157349.17	transcript	ENST00000288071.11	protein_coding		4088		chr16	TogoVar
DDX19B_chr16_70294186_70340305	70339400	T T	TATATATA others(15): Show TATATATATATATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0150 a0001c0001t0002g0150	1	336	0.0030	22	c.58 others(33): Show c.5818_*5819insATATATATATATATATATATAC	DDX19B	ENSG00000157349.17	transcript	ENST00000288071.11	protein_coding		4096		chr16	TogoVar
DDX24_chr14_94043287_94086202	94065384	G G	GACACACA others(15): Show GACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02004.hp1 HG02300.hp1 others(11): Show HG01192.hp1 HG02004.hp1 HG02300.hp1 HG02717.hp2 HG02723.hp1 HG03225.hp2 HG03579.hp2 HG03669.hp2 HG03831.hp2 HG03927.hp2 HG04115.hp2 HG04184.hp1 NA18979.hp1 NA19005.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0002 a0001c0012 a0002c0003 others(1): Show a0001c0002 a0001c0012 a0002c0003 a0005c0008	a0001c0002t0003 a0001c0002t0004 a0001c0012t0035 others(2): Show a0001c0002t0003 a0001c0002t0004 a0001c0012t0035 a0002c0003t0005 a0005c0008t0005	a0001c0002t0003g0017 a0001c0002t0003g0136 a0001c0002t0003g0138 others(7): Show a0001c0002t0003g0017 a0001c0002t0003g0136 a0001c0002t0003g0138 a0001c0002t0003g0144 a0001c0002t0004g0180 a0001c0002t0004g0192 a0001c0002t0004g0193 a0001c0012t0035g0179 a0002c0003t0005g0199 a0005c0008t0005g0021	14	371	0.0377	22	c.719 others(39): Show c.719-2764_719-2763insGTGTGTGTGTGTGTGTGTGTGT	DDX24	ENSG00000089737.19	transcript	ENST00000621632.5	protein_coding	2/8			chr14	TogoVar
DDX28_chr16_68015916_68028232	68020853	A A	ATATATAT others(15): Show ATATATATATATATATATATACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	390	0.0026	22	c.72 others(31): Show c.726_*727insCGTATATATATATATATATATA	DDX28	ENSG00000182810.7	transcript	ENST00000332395.7	protein_coding		62		chr16	TogoVar
DDX31_chr9_132587997_132674983	132632239	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG03239.hp2 others(4): Show HG02895.hp2 HG02897.hp2 HG03239.hp2 NA18969.hp1 NA18972.hp1 NA19083.hp1 homoSapiens_chm13v2.hp1	a0001 a0014 a0001 a0014	a0001c0001 a0001c0005 a0014c0019 a0001c0001 a0001c0005 a0014c0019	a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 a0014c0019t0002	a0001c0001t0001g0192 a0001c0001t0001g0201 a0001c0001t0002g0338 others(4): Show a0001c0001t0001g0192 a0001c0001t0001g0201 a0001c0001t0002g0338 a0001c0001t0002g0383 a0001c0005t0001g0159 a0001c0005t0001g0162 a0014c0019t0002g0042	7	402	0.0174	22	c.144 others(39): Show c.1441-149_1441-148insGTGTGTGTGTGTGTGTGTGTGT	DDX31	ENSG00000125485.18	transcript	ENST00000372159.8	protein_coding	14/19			chr9	TogoVar
DDX31_chr9_132587997_132674983	132632241	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA19005.hp2 NA19084.hp2 NA18991.hp2 NA19005.hp2 NA19084.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0003 a0001c0001t0002 a0002c0002t0003	a0001c0001t0002g0037 a0002c0002t0003g0021 a0002c0002t0003g0072 a0001c0001t0002g0037 a0002c0002t0003g0021 a0002c0002t0003g0072	3	402	0.0075	22	c.144 others(39): Show c.1441-172_1441-151dupGTGTGTGTGTGTGTGTGTGTGT	DDX31	ENSG00000125485.18	transcript	ENST00000372159.8	protein_coding	14/19			chr9	TogoVar
DDX43_chr6_73389828_73422566	73412638	A A	AGTGTGTG others(15): Show AGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0112 a0002c0002t0001g0112	1	394	0.0025	22	c.136 others(39): Show c.1368+356_1368+377dupTGTGTGTGTGTGTGTGTGTGTG	DDX43	ENSG00000080007.8	transcript	ENST00000370336.5	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr6	TogoVar
DDX43_chr6_73389828_73422566	73412638	A A	ATAGTGTG others(15): Show ATAGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0115 a0002c0002t0001g0115	1	394	0.0025	22	c.136 others(39): Show c.1368+346_1368+347insTAGTGTGTGTGTGTGTGTGTGT	DDX43	ENSG00000080007.8	transcript	ENST00000370336.5	protein_coding	11/16			chr6	TogoVar
DDX43_chr6_73389828_73422566	73412668	T T	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA19060.hp2 HG00438.hp2 NA19060.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0107 a0002c0002t0001g0108	2	394	0.0051	22	c.136 others(39): Show c.1368+377_1368+378insTGTGTGTGTGTGTGTGTGCGCG	DDX43	ENSG00000080007.8	transcript	ENST00000370336.5	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr6	TogoVar
DDX43_chr6_73389828_73422566	73412668	T T	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0072 a0002c0002t0001g0072	1	394	0.0025	22	c.136 others(39): Show c.1368+377_1368+378insTGTGTGTGTGTGTGTGTGTGCG	DDX43	ENSG00000080007.8	transcript	ENST00000370336.5	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr6	TogoVar
DDX4_chr5_55733061_55822157	55765413	A A	AAAATATA others(15): Show AAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	346	0.0029	22	c.334 others(39): Show c.334+1350_334+1351insAATATATATATATATATATATA	DDX4	ENSG00000152670.19	transcript	ENST00000505374.6	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
DDX50_chr10_68896315_68951847	68929294	T T	TTCCTTCC others(15): Show TTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0001 a0003c0015t0001	a0003c0015t0001g0173 a0003c0015t0001g0173	1	334	0.0030	22	c.124 others(41): Show c.1240-4905_1240-4904insTCCTTCCTTCCTTCCTTCCTTC	DDX50	ENSG00000107625.14	transcript	ENST00000373585.8	protein_coding	8/14			chr10	TogoVar
DDX50_chr10_68896315_68951847	68931424	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0243 a0001c0002t0001g0243	1	334	0.0030	22	c.124 others(41): Show c.1240-2774_1240-2773insCACACACACACACACACACACA	DDX50	ENSG00000107625.14	transcript	ENST00000373585.8	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
DDX50_chr10_68896315_68951847	68931426	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	334	0.0030	22	c.124 others(41): Show c.1240-2768_1240-2767insCACACACACACACACACACACA	DDX50	ENSG00000107625.14	transcript	ENST00000373585.8	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
DDX50_chr10_68896315_68951847	68931426	T T	TATACACA others(15): Show TATACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 NA19062.hp1 HG00099.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0058 a0001c0001t0001g0032 a0001c0001t0001g0058	2	334	0.0060	22	c.124 others(41): Show c.1240-2772_1240-2771insTACACACACACACACACACACA	DDX50	ENSG00000107625.14	transcript	ENST00000373585.8	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
DDX56_chr7_44560804_44578908	44562871	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02572.hp1 NA19240.hp1 HG02109.hp1 HG02572.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	3	406	0.0074	22	c.31 others(33): Show c.3130_*3131insCTTTTTTTTTTTTTTTTTTTTT	DDX56	ENSG00000136271.11	transcript	ENST00000258772.10	protein_coding		2932		chr7	TogoVar
DDX60L_chr4_168351735_168485492	168422999	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01109.hp2 HG02109.hp1 others(6): Show HG00639.hp1 HG01109.hp2 HG02109.hp1 HG02615.hp1 HG02647.hp1 HG02896.hp1 HG02897.hp1 HG03139.hp1 HG03486.hp2	a0002 a0004 a0010 others(4): Show a0002 a0004 a0010 a0014 a0015 a0019 a0044	a0002c0018 a0004c0019 a0010c0024 others(5): Show a0002c0018 a0004c0019 a0010c0024 a0010c0081 a0014c0017 a0015c0090 a0019c0027 a0044c0088	a0002c0018t0002 a0004c0019t0001 a0010c0024t0002 others(5): Show a0002c0018t0002 a0004c0019t0001 a0010c0024t0002 a0010c0081t0002 a0014c0017t0002 a0015c0090t0001 a0019c0027t0002 a0044c0088t0001	a0002c0018t0002g0103 a0004c0019t0001g0254 a0010c0024t0002g0119 others(6): Show a0002c0018t0002g0103 a0004c0019t0001g0254 a0010c0024t0002g0119 a0010c0024t0002g0120 a0010c0081t0002g0249 a0014c0017t0002g0105 a0015c0090t0001g0238 a0019c0027t0002g0005 a0044c0088t0001g0004	9	268	0.0336	22	c.209 others(39): Show c.2098-330_2098-329insTACACACACACACACACACACA	DDX60L	ENSG00000181381.15	transcript	ENST00000682922.1	protein_coding	15/37			chr4	TogoVar
DDX60L_chr4_168351735_168485492	168454758	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00609.hp1 others(17): Show HG00323.hp1 HG00323.hp2 HG00609.hp1 HG01069.hp2 HG01167.hp1 HG01169.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG02165.hp1 HG02559.hp1 HG02559.hp2 HG02630.hp1 HG02630.hp2 HG03490.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG04228.hp2 NA19057.hp2	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0013 a0015 a0017 a0022	a0001c0002 a0001c0064 a0002c0004 others(6): Show a0001c0002 a0001c0064 a0002c0004 a0004c0005 a0013c0034 a0015c0022 a0017c0035 a0017c0058 a0022c0033	a0001c0002t0001 a0001c0002t0007 a0001c0064t0001 others(8): Show a0001c0002t0001 a0001c0002t0007 a0001c0064t0001 a0002c0004t0002 a0002c0004t0003 a0004c0005t0001 a0013c0034t0001 a0015c0022t0001 a0017c0035t0001 a0017c0058t0009 a0022c0033t0001	a0001c0002t0001g0025 a0001c0002t0001g0038 a0001c0002t0001g0055 others(17): Show a0001c0002t0001g0025 a0001c0002t0001g0038 a0001c0002t0001g0055 a0001c0002t0001g0111 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0007g0032 a0001c0064t0001g0031 a0002c0004t0002g0044 a0002c0004t0002g0047 a0002c0004t0003g0036 a0004c0005t0001g0012 a0004c0005t0001g0061 a0013c0034t0001g0090 a0015c0022t0001g0050 a0017c0035t0001g0095 a0017c0058t0009g0266 a0022c0033t0001g0109	20	268	0.0746	22	c.837 others(39): Show c.837+1280_837+1281insAAAAAAAAAAAAAAAAAAAAAA	DDX60L	ENSG00000181381.15	transcript	ENST00000682922.1	protein_coding	7/37			chr4	TogoVar
DDX6_chr11_118742763_118796164	118745653	G G	GACACACA others(15): Show GACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0360 a0001c0001t0001g0360	1	370	0.0027	22	c.64 others(33): Show c.6451_*6452insGTGTGTGTGTGTGTGTGTGTGT	DDX6	ENSG00000110367.14	transcript	ENST00000534980.7	protein_coding		2109		chr11	TogoVar
DECR2_chr16_396885_417482	397703	G G	GGGGGGTG others(15): Show GGGGGGTGAGGGAGTCGGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	367	0.0027	22	c.-42 others(33): Show c.-4261_-4260insGGGGGTGAGGGAGTCGGGGGGT	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4181		chr16	TogoVar
DEF6_chr6_35292818_35326771	35323158	G G	GCAGGAGC others(15): Show GCAGGAGCAATGATTATAGGATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	326	0.0031	22	c.17 others(33): Show c.1748_*1749insCAGGAGCAATGATTATAGGATT	DEF6	ENSG00000023892.12	transcript	ENST00000316637.7	protein_coding		1388		chr6	TogoVar
DEFB107A_chr8_7806720_7820716	7815247	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03942.hp2 NA19090.hp2 HG03942.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	2	170	0.0118	22	c.70+ others(35): Show c.70+290_70+311dupTTTTTTTTTTTTTTTTTTTTTT	DEFB107A	ENSG00000186572.2	transcript	ENST00000335021.2	protein_coding	1/1			chr8	TogoVar
DEFB116_chr20_31298212_31313585	31298455	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG01891.hp1 HG02155.hp1 others(3): Show HG00280.hp2 HG01891.hp1 HG02155.hp1 HG02486.hp1 HG03041.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0001 a0001c0001t0000g0003 a0001c0001t0000g0010 a0001c0001t0000g0001 a0001c0001t0000g0003 a0001c0001t0000g0010	6	416	0.0144	22	c.47 others(33): Show c.4756_*4757insTTTTTTTTTTTTTTTTTTTTTT	DEFB116	ENSG00000215545.1	transcript	ENST00000400549.1	protein_coding		4756		chr20	TogoVar
DEFB121_chr20_31399845_31411215	31410823	T T	TGAGAGAG others(15): Show TGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03516.hp1 HG03195.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	372	0.0054	22	c.-46 others(33): Show c.-4693_-4672dupTCTCTCTCTCTCTCTCTCTCTC	DEFB121	ENSG00000204548.4	transcript	ENST00000376314.3	protein_coding		4609		chr20	TogoVar
DEFB124_chr20_31460471_31480127	31460620	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0141 a0001c0001t0002g0141	1	362	0.0028	22	c.48 others(33): Show c.4885_*4886insTTTTTTTTTTTTTTTTTTTTTT	DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding		4850		chr20	TogoVar
DEFB124_chr20_31460471_31480127	31466606	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01167.hp1 NA18952.hp1 others(1): Show HG00738.hp1 HG01167.hp1 NA18952.hp1 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0061 a0001c0001t0002g0108 a0001c0001t0002g0034 a0001c0001t0002g0061 a0001c0001t0002g0108	4	362	0.0111	22	c.59- others(35): Show c.59-944_59-943insATATATATATATATATATATAT	DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding	2/2			chr20	TogoVar
DEFB134_chr8_11988174_12005752	12001892	T T	TTCTTTCT others(15): Show TTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0066 a0001c0001t0005g0066	1	448	0.0022	22	c.-12 others(33): Show c.-1233_-1232insGAAAGAAAGAAAGAAAGAAAGA	DEFB134	ENSG00000205882.9	transcript	ENST00000382205.6	protein_coding		1141		chr8	TogoVar
DENND10_chr10_119099113_119142984	119115382	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00738.hp2 HG02027.hp2 others(13): Show HG00544.hp2 HG00738.hp2 HG02027.hp2 HG02273.hp2 HG02293.hp2 NA18949.hp1 NA18952.hp1 NA18985.hp1 NA18994.hp2 NA19009.hp1 NA19060.hp1 NA19060.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0019 a0001c0001t0001g0163 a0001c0001t0001g0195 others(12): Show a0001c0001t0001g0019 a0001c0001t0001g0163 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0283 a0001c0001t0001g0293 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0302 a0001c0001t0004g0297	16	374	0.0428	22	c.333 others(39): Show c.333-2135_333-2114dupTTTTTTTTTTTTTTTTTTTTTT	DENND10	ENSG00000119979.18	transcript	ENST00000361432.3	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
DENND10_chr10_119099113_119142984	119135791	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	374	0.0027	22	c.898 others(37): Show c.898-676_898-655dupAAAAAAAAAAAAAAAAAAAAAA	DENND10	ENSG00000119979.18	transcript	ENST00000361432.3	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
DENND11_chr7_141651728_141707166	141703542	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0271 a0001c0002t0003g0271	1	345	0.0029	22	c.-13 others(33): Show c.-1390_-1389insCACACACACACACACACACACA	DENND11	ENSG00000257093.7	transcript	ENST00000536163.6	protein_coding		1377		chr7	TogoVar
DENND1A_chr9_123374658_123935126	123485656	G G	GCGCGCGC others(15): Show GCGCGCGCGCACACACACACACA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG03927.hp2 HG02056.hp1 HG03927.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0015 a0001c0004t0009 a0001c0003t0015 a0001c0004t0009	a0001c0003t0015g0097 a0001c0004t0009g0158 a0001c0003t0015g0097 a0001c0004t0009g0158	2	162	0.0124	22	c.994 others(41): Show c.994-27760_994-27759insTGTGTGTGTGTGTGCGCGCGCG	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	13/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123552018	C C	CGAGAGAG others(15): Show CGAGAGAGAGAGAGAGAGACAGA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0122 a0001c0004t0001g0122	1	162	0.0062	22	c.993 others(39): Show c.993+5551_993+5552insTCTGTCTCTCTCTCTCTCTCTC	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	13/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123620232	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA19010.hp1 NA18970.hp1 NA19010.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0002 a0001c0004t0001 a0001c0004t0002	a0001c0004t0001g0086 a0001c0004t0002g0081 a0001c0004t0001g0086 a0001c0004t0002g0081	2	162	0.0124	22	c.719 others(41): Show c.719+10143_719+10144insCTTTTTTTTTTTTTTTTTTTTT	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	10/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123710560	C C	CACACACA others(15): Show CACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02258.hp1 HG02486.hp2 others(2): Show HG01952.hp2 HG02258.hp1 HG02486.hp2 HG02647.hp2 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0006 others(1): Show a0001c0001 a0001c0004 a0001c0006 a0002c0015	a0001c0001t0001 a0001c0004t0001 a0001c0006t0011 others(1): Show a0001c0001t0001 a0001c0004t0001 a0001c0006t0011 a0002c0015t0011	a0001c0001t0001g0051 a0001c0001t0001g0111 a0001c0004t0001g0052 others(2): Show a0001c0001t0001g0051 a0001c0001t0001g0111 a0001c0004t0001g0052 a0001c0006t0011g0162 a0002c0015t0011g0161	5	162	0.0309	22	c.303 others(41): Show c.303-33772_303-33771insATGTGTGTGTGTGTGTGTGTGT	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	5/23			chr9	TogoVar

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