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
DDX19B_chr16_70294186_70340305	70339392	A A	AAAAAAAA others(8): Show AAAAAAAAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	336	0.0030	15	c.58 others(26): Show c.5810_*5811insAAAAAAAATATATAT	DDX19B	ENSG00000157349.17	transcript	ENST00000288071.11	protein_coding		4088		chr16	TogoVar
DDX19B_chr16_70294186_70340305	70339392	A A	AAAAAAAT others(8): Show AAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	336	0.0030	15	c.58 others(26): Show c.5810_*5811insAAAAAATATATATAT	DDX19B	ENSG00000157349.17	transcript	ENST00000288071.11	protein_coding		4088		chr16	TogoVar
DDX19B_chr16_70294186_70340305	70339392	A A	AAAAATAT others(8): Show AAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	336	0.0030	15	c.58 others(26): Show c.5810_*5811insAAAATATATATATAT	DDX19B	ENSG00000157349.17	transcript	ENST00000288071.11	protein_coding		4088		chr16	TogoVar
DDX19B_chr16_70294186_70340305	70339392	A A	AAATATAT others(8): Show AAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG02602.hp1 HG02602.hp2 others(1): Show HG00099.hp1 HG02602.hp1 HG02602.hp2 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0054 a0001c0001t0001g0089 a0001c0001t0002g0131 others(1): Show a0001c0001t0001g0054 a0001c0001t0001g0089 a0001c0001t0002g0131 a0001c0001t0007g0093	4	336	0.0119	15	c.58 others(26): Show c.5810_*5811insAATATATATATATAT	DDX19B	ENSG00000157349.17	transcript	ENST00000288071.11	protein_coding		4088		chr16	TogoVar
DDX19B_chr16_70294186_70340305	70339392	A A	ATATATAT others(8): Show ATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG02040.hp2 HG02258.hp1 others(7): Show HG01106.hp2 HG02040.hp2 HG02258.hp1 HG03225.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 NA18939.hp1 NA18990.hp2 NA19055.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0004c0007t0001 a0001c0001t0001 a0001c0001t0002 a0004c0007t0001	a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0094 others(7): Show a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0152 a0001c0001t0001g0176 a0001c0001t0001g0234 a0001c0001t0001g0266 a0001c0001t0002g0127 a0004c0007t0001g0226	10	336	0.0298	15	c.58 others(26): Show c.5810_*5811insTATATATATATATAT	DDX19B	ENSG00000157349.17	transcript	ENST00000288071.11	protein_coding		4088		chr16	TogoVar
DDX21_chr10_68951170_68990068	68952889	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00558.hp1 HG00621.hp2 others(76): Show HG00408.hp2 HG00558.hp1 HG00621.hp2 HG00639.hp1 HG00733.hp1 HG00741.hp2 HG01257.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01517.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02523.hp2 HG02622.hp2 HG02647.hp2 HG02683.hp2 HG03017.hp1 HG03516.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG04199.hp1 HG04228.hp2 NA18612.hp2 NA18939.hp2 NA18943.hp1 NA18943.hp2 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18952.hp2 NA18954.hp1 NA18956.hp1 NA18960.hp1 NA18965.hp1 NA18965.hp2 NA18967.hp2 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18983.hp2 NA18984.hp1 NA18990.hp1 NA18990.hp2 NA18995.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19060.hp1 NA19077.hp2 NA19081.hp2 NA19084.hp1 NA19088.hp1 NA19089.hp2 NA19090.hp1 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0009 a0003c0004 a0001c0001 a0001c0009 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0017 a0001c0009t0008 a0003c0004t0002	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0014 others(45): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0055 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0019 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0060 a0001c0001t0002g0076 a0001c0001t0002g0088 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0097 a0001c0001t0002g0100 a0001c0001t0002g0184 a0001c0001t0008g0001 a0001c0001t0008g0012 a0001c0001t0008g0096 a0001c0001t0008g0174 a0001c0001t0009g0087 a0001c0001t0009g0158 a0001c0001t0011g0015 a0001c0001t0011g0156 a0001c0001t0011g0159 a0001c0001t0017g0046 a0001c0009t0008g0004 a0003c0004t0002g0031	79	366	0.2159	15	c.-33 others(26): Show c.-3337_-3336insTTTTTTTTTTTTTTT	DDX21	ENSG00000165732.14	transcript	ENST00000354185.9	protein_coding		3280		chr10	TogoVar
DDX31_chr9_132587997_132674983	132667605	A A	AAAAACAA others(8): Show AAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0012 a0001c0003t0011g0012	1	402	0.0025	15	c.75+ others(30): Show c.75+2240_75+2254dupGTTTTGTTTTGTTTT	DDX31	ENSG00000125485.18	transcript	ENST00000372159.8	protein_coding	1/19			chr9	TogoVar
DDX3X_chrX_41329162_41355274	41354344	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG03098.hp1 HG03225.hp1 others(2): Show HG00597.hp1 HG03098.hp1 HG03225.hp1 NA18998.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0063 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0063 a0001c0001t0005g0003	5	301	0.0166	15	c.66 others(26): Show c.6625_*6626insTTTTTTTTTTTTTTT	DDX3X	ENSG00000215301.11	transcript	ENST00000644876.2	protein_coding		4071		chrX	TogoVar
DDX42_chr17_63769170_63824317	63774219	C C	CGGTGGCG others(8): Show CGGTGGCGGTGGCGGT	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0029 a0001c0001t0018g0029	1	332	0.0030	15	c.-16 others(24): Show c.-166_-165insTGGCGGTGGTGGCGG	DDX42	ENSG00000198231.14	transcript	ENST00000389924.7	protein_coding	1/18	12822	INFO_REALIGN_3_PRIME	chr17	TogoVar
DDX43_chr6_73389828_73422566	73412638	A A	ATATGTGT others(8): Show ATATGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0116 a0002c0002t0001g0116	1	394	0.0025	15	c.136 others(32): Show c.1368+346_1368+347insTATGTGTGTGTGTGT	DDX43	ENSG00000080007.8	transcript	ENST00000370336.5	protein_coding	11/16			chr6	TogoVar
DDX4_chr5_55733061_55822157	55765407	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0192 a0002c0003t0001g0192	1	346	0.0029	15	c.334 others(32): Show c.334+1343_334+1344insTATATATATATATAT	DDX4	ENSG00000152670.19	transcript	ENST00000505374.6	protein_coding	6/21			chr5	TogoVar
DDX4_chr5_55733061_55822157	55789050	C C	CCTTGACT others(8): Show CCTTGACTTATATATA	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02300.hp2 HG02148.hp2 HG02300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0079 a0001c0002t0001g0080	2	346	0.0058	15	c.117 others(34): Show c.1172+1051_1172+1065dupCTTGACTTATATATA	DDX4	ENSG00000152670.19	transcript	ENST00000505374.6	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
DDX52_chr17_37604739_37648446	37616662	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0036 a0002c0002t0036	a0002c0002t0036g0240 a0002c0002t0036g0240	1	411	0.0024	15	c.174 others(34): Show c.1742+1629_1742+1630insTTTTTTTTTTTTTTT	DDX52	ENSG00000278053.5	transcript	ENST00000617633.5	protein_coding	14/14			chr17	TogoVar
DDX55_chr12_123597099_123625943	123601512	A A	AAACAACA others(8): Show AAACAACAACAACAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01256.hp1 HG03942.hp2 HG01109.hp2 HG01256.hp1 HG03942.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0019 a0004c0009t0073 a0004c0009t0019 a0004c0009t0073	a0004c0009t0019g0012 a0004c0009t0073g0012 a0004c0009t0019g0012 a0004c0009t0073g0012	3	304	0.0099	15	c.-63 others(24): Show c.-637_-636insAACAACAACAACAAC	DDX55	ENSG00000111364.16	transcript	ENST00000238146.9	protein_coding		586		chr12	TogoVar
DDX56_chr7_44560804_44578908	44562854	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 HG01884.hp1 HG03098.hp1 HG01358.hp2 HG01884.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0003 a0001c0002t0002g0020 a0001c0002t0002g0067 a0001c0001t0001g0003 a0001c0002t0002g0020 a0001c0002t0002g0067	3	406	0.0074	15	c.31 others(26): Show c.3147_*3148insTTTTTTTTTTTTTTT	DDX56	ENSG00000136271.11	transcript	ENST00000258772.10	protein_coding		2949		chr7	TogoVar
DDX59_chr1_200639037_200674907	200669895	T T	TGCGGAGC others(8): Show TGCGGAGCGGAGCGGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02723.hp2 HG02896.hp1 HG02723.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0277 a0001c0001t0014g0278 a0001c0001t0014g0277 a0001c0001t0014g0278	2	390	0.0051	15	c.-14 others(24): Show c.-141_-140insTCCGCTCCGCTCCGC	DDX59	ENSG00000118197.14	transcript	ENST00000331314.11	protein_coding	1/8	3156		chr1	TogoVar
DDX59_chr1_200639037_200674907	200669895	T T	TGCGGGGC others(8): Show TGCGGGGCGGAGCGGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01891.hp2 HG03139.hp1 NA20805.hp2 HG01891.hp2 HG03139.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0051 a0001c0001t0012g0276 a0001c0001t0012g0051 a0001c0001t0012g0276	3	390	0.0077	15	c.-14 others(24): Show c.-141_-140insTCCGCTCCGCCCCGC	DDX59	ENSG00000118197.14	transcript	ENST00000331314.11	protein_coding	1/8	3156		chr1	TogoVar
DDX59_chr1_200639037_200674907	200669895	T T	TGCGGGGC others(8): Show TGCGGGGCGGGGCGGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18989.hp2 NA18993.hp2 NA18989.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0273 a0001c0001t0013g0274 a0001c0001t0013g0273 a0001c0001t0013g0274	2	390	0.0051	15	c.-14 others(24): Show c.-141_-140insTCCGCCCCGCCCCGC	DDX59	ENSG00000118197.14	transcript	ENST00000331314.11	protein_coding	1/8	3156		chr1	TogoVar
DDX59_chr1_200639037_200674907	200672715	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	390	0.0026	15	c.-29 others(26): Show c.-2961_-2960insAAAAAAAAAAAAAAA	DDX59	ENSG00000118197.14	transcript	ENST00000331314.11	protein_coding		2809		chr1	TogoVar
DDX60L_chr4_168351735_168485492	168455272	T T	TGTGTGTG others(8): Show TGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0049 a0001c0002t0001g0049	1	268	0.0037	15	c.837 others(30): Show c.837+766_837+767insCACACACACACACAC	DDX60L	ENSG00000181381.15	transcript	ENST00000682922.1	protein_coding	7/37			chr4	TogoVar
DDX60L_chr4_168351735_168485492	168456902	G G	GAAATGTA others(8): Show GAAATGTACACTAAAA	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0007 a0007	a0007c0020 a0007c0020	a0007c0020t0008 a0007c0020t0008	a0007c0020t0008g0196 a0007c0020t0008g0196	1	268	0.0037	15	c.724 others(30): Show c.724-765_724-751dupTTTTAGTGTACATTT	DDX60L	ENSG00000181381.15	transcript	ENST00000682922.1	protein_coding	6/37			chr4	TogoVar
DDX60L_chr4_168351735_168485492	168484059	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG03098.hp1 HG03654.hp1 others(1): Show HG01516.hp2 HG03098.hp1 HG03654.hp1 HG04199.hp1	a0004 a0006 a0009 a0004 a0006 a0009	a0004c0087 a0006c0006 a0009c0028 others(1): Show a0004c0087 a0006c0006 a0009c0028 a0009c0062	a0004c0087t0001 a0006c0006t0003 a0009c0028t0001 others(1): Show a0004c0087t0001 a0006c0006t0003 a0009c0028t0001 a0009c0062t0001	a0004c0087t0001g0235 a0006c0006t0003g0133 a0009c0028t0001g0124 others(1): Show a0004c0087t0001g0235 a0006c0006t0003g0133 a0009c0028t0001g0124 a0009c0062t0001g0230	4	268	0.0149	15	c.-38 others(26): Show c.-3808_-3794dupAAAAAAAAAAAAAAA	DDX60L	ENSG00000181381.15	transcript	ENST00000682922.1	protein_coding		3568		chr4	TogoVar
DDX60_chr4_168211294_168323752	168265835	A A	AGGAAGGG others(8): Show AGGAAGGGAAGGGAAG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0012 a0012	a0012c0025 a0012c0025	a0012c0025t0001 a0012c0025t0001	a0012c0025t0001g0129 a0012c0025t0001g0129	1	270	0.0037	15	c.303 others(34): Show c.3039+1732_3039+1746dupCTTCCCTTCCCTTCC	DDX60	ENSG00000137628.18	transcript	ENST00000393743.8	protein_coding	22/37			chr4	TogoVar
DDX6_chr11_118742763_118796164	118756016	T T	TCCCCCCC others(8): Show TCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0237 a0001c0001t0017g0237	1	370	0.0027	15	c.117 others(32): Show c.1174+243_1174+244insGGGGGGGGGGGGGGG	DDX6	ENSG00000110367.14	transcript	ENST00000534980.7	protein_coding	11/13			chr11	TogoVar
DDX6_chr11_118742763_118796164	118764817	A A	ATATACAC others(8): Show ATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01081.hp2 HG01099.hp1 others(10): Show HG00140.hp1 HG01081.hp2 HG01099.hp1 HG01175.hp2 HG01192.hp2 HG01433.hp1 HG01993.hp1 HG02083.hp1 HG03017.hp1 HG03516.hp2 HG03654.hp1 NA19086.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(7): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0042 a0001c0001t0044 a0001c0001t0082 a0001c0001t0087 a0001c0001t0088 a0001c0001t0107	a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0004g0173 others(10): Show a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0004g0173 a0001c0001t0004g0177 a0001c0001t0005g0299 a0001c0001t0005g0330 a0001c0001t0008g0166 a0001c0001t0042g0178 a0001c0001t0044g0163 a0001c0001t0082g0176 a0001c0001t0087g0167 a0001c0001t0088g0162 a0001c0001t0107g0362	13	370	0.0351	15	c.646 others(30): Show c.646+391_646+392insGTGTGTGTGTGTATA	DDX6	ENSG00000110367.14	transcript	ENST00000534980.7	protein_coding	6/13			chr11	TogoVar
DDX6_chr11_118742763_118796164	118783810	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02622.hp1 HG03579.hp1 others(1): Show HG01074.hp1 HG02622.hp1 HG03579.hp1 NA19089.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0031 a0001c0001t0054 a0001c0001t0105 others(1): Show a0001c0001t0031 a0001c0001t0054 a0001c0001t0105 a0004c0003t0083	a0001c0001t0031g0233 a0001c0001t0054g0227 a0001c0001t0105g0222 others(1): Show a0001c0001t0031g0233 a0001c0001t0054g0227 a0001c0001t0105g0222 a0004c0003t0083g0357	4	370	0.0108	15	c.200 others(32): Show c.200+2241_200+2242insTTTTTTTTTTTTTTT	DDX6	ENSG00000110367.14	transcript	ENST00000534980.7	protein_coding	2/13			chr11	TogoVar
DEAF1_chr11_639233_700222	690361	G G	GAGGGCAG others(8): Show GAGGGCAGGGGAGGGC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0257 a0001c0002t0001g0257	1	345	0.0029	15	c.387 others(32): Show c.387+1139_387+1140insGCCCTCCCCTGCCCT	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	2/11			chr11	TogoVar
DECR1_chr8_89996477_90058633	90056954	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	378	0.0027	15	c.50 others(26): Show c.5057_*5058insTTTTTTTTTTTTTTT	DECR1	ENSG00000104325.7	transcript	ENST00000220764.7	protein_coding		3322		chr8	TogoVar
DECR2_chr16_396885_417482	407796	G G	GCCTCTGT others(8): Show GCCTCTGTCTCCGGGC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02602.hp1 HG03017.hp1 others(3): Show HG00621.hp1 HG02602.hp1 HG03017.hp1 HG03688.hp1 HG03831.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 others(3): Show a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0108 a0001c0001t0001g0135	6	367	0.0164	15	c.337 others(30): Show c.337+237_337+238insCTCTGTCTCCGGGCC	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
DEDD2_chr19_42193598_42222677	42212037	C C	CAATAATA others(8): Show CAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0114 a0002c0004t0003g0114	1	252	0.0040	15	c.449 others(32): Show c.449-2212_449-2198dupATTATTATTATTATT	DEDD2	ENSG00000160570.14	transcript	ENST00000596251.6	protein_coding	3/4			chr19	TogoVar
DEF6_chr6_35292818_35326771	35308672	C C	CAAAATAA others(8): Show CAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0127 a0002c0002t0001g0127	1	326	0.0031	15	c.97- others(28): Show c.97-954_97-940dupATAAAATAAAATAAA	DEF6	ENSG00000023892.12	transcript	ENST00000316637.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
DEF8_chr16_89943755_89973060	89948839	T T	TCGGGGCC others(8): Show TCGGGGCCGGCGGGGA	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	392	0.0026	15	c.-10 others(30): Show c.-108+61_-108+75dupCCGGCGGGGACGGGG	DEF8	ENSG00000140995.17	transcript	ENST00000563594.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
DEF8_chr16_89943755_89973060	89948850	G G	GGGGTCGG others(8): Show GGGGTCGGGGCTGGGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0078 a0001c0002t0011g0078	1	392	0.0026	15	c.-10 others(30): Show c.-108+39_-108+40insTCGGGGCTGGGAGGG	DEF8	ENSG00000140995.17	transcript	ENST00000563594.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
DEF8_chr16_89943755_89973060	89948865	G G	GGGGTCGG others(8): Show GGGGTCGGGGCTGGGA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	392	0.0026	15	c.-10 others(30): Show c.-108+54_-108+55insTCGGGGCTGGGAGGG	DEF8	ENSG00000140995.17	transcript	ENST00000563594.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
DEF8_chr16_89943755_89973060	89948910	A A	AGGGACGG others(8): Show AGGGACGGGGCCGGCG	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0093	1	392	0.0026	15	c.-10 others(32): Show c.-108+106_-108+120dupCCGGCGGGGACGGGG	DEF8	ENSG00000140995.17	transcript	ENST00000563594.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
DEF8_chr16_89943755_89973060	89948955	A A	AGGGACGG others(8): Show AGGGACGGGGCCGGCG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0088 a0001c0002t0007g0088	1	392	0.0026	15	c.-10 others(32): Show c.-108+175_-108+189dupACGGGGCCGGCGGGG	DEF8	ENSG00000140995.17	transcript	ENST00000563594.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
DEF8_chr16_89943755_89973060	89948989	A A	ACGGGGCC others(8): Show ACGGGGCCGGCGAGGT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0052 a0001c0001t0003g0052	1	392	0.0026	15	c.-10 others(32): Show c.-108+186_-108+187insAGGTCGGGGCCGGCG	DEF8	ENSG00000140995.17	transcript	ENST00000563594.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
DEF8_chr16_89943755_89973060	89949015	A A	AGGGACGG others(8): Show AGGGACGGGGCCGGCG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01891.hp1 HG03516.hp2 others(1): Show HG01081.hp2 HG01891.hp1 HG03516.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0008 a0001c0001t0001 a0001c0003t0008	a0001c0001t0001g0017 a0001c0003t0008g0211 a0001c0001t0001g0017 a0001c0003t0008g0211	4	392	0.0102	15	c.-10 others(32): Show c.-108+211_-108+225dupCCGGCGGGGACGGGG	DEF8	ENSG00000140995.17	transcript	ENST00000563594.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
DEF8_chr16_89943755_89973060	89949030	G G	GGGGTCGG others(8): Show GGGGTCGGGGCTGGGA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	392	0.0026	15	c.-10 others(32): Show c.-108+219_-108+220insTCGGGGCTGGGAGGG	DEF8	ENSG00000140995.17	transcript	ENST00000563594.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
DEF8_chr16_89943755_89973060	89949079	A A	ACGGGGCC others(8): Show ACGGGGCCGGCGAGGT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02723.hp2 HG02717.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0199 a0001c0001t0001g0068 a0001c0001t0001g0199	2	392	0.0051	15	c.-10 others(32): Show c.-108+276_-108+277insAGGTCGGGGCCGGCG	DEF8	ENSG00000140995.17	transcript	ENST00000563594.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
DEF8_chr16_89943755_89973060	89949079	A A	ACGGGGCC others(8): Show ACGGGGCCGGCGGGGT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02055.hp2 HG02109.hp2 others(27): Show HG01192.hp1 HG02055.hp2 HG02109.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03486.hp1 HG03579.hp1 NA19030.hp2 NA19240.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 others(1): Show a0001c0001 a0001c0002 a0002c0004 a0002c0005	a0001c0001t0001 a0001c0002t0007 a0001c0002t0011 others(2): Show a0001c0001t0001 a0001c0002t0007 a0001c0002t0011 a0002c0004t0001 a0002c0005t0009	a0001c0001t0001g0010 a0001c0001t0001g0047 a0001c0001t0001g0094 others(17): Show a0001c0001t0001g0010 a0001c0001t0001g0047 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0208 a0001c0001t0001g0217 a0001c0002t0007g0048 a0001c0002t0007g0214 a0001c0002t0011g0215 a0001c0002t0011g0216 a0002c0004t0001g0013 a0002c0004t0001g0220 a0002c0004t0001g0221 a0002c0004t0001g0222 a0002c0005t0009g0022 a0002c0005t0009g0096 a0002c0005t0009g0223	30	392	0.0765	15	c.-10 others(32): Show c.-108+279_-108+280insTCGGGGCCGGCGGGG	DEF8	ENSG00000140995.17	transcript	ENST00000563594.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
DEFB105A_chr8_7816004_7828880	7816064	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0035 a0001c0001t0013g0035	1	146	0.0069	15	c.59 others(26): Show c.5943_*5944insAAAAAAAAAAAAAAA	DEFB105A	ENSG00000186562.8	transcript	ENST00000334773.7	protein_coding		4939		chr8	TogoVar
DEFB106A_chr8_7820139_7834053	7829529	T T	TCCCTCCC others(8): Show TCCCTCCCCCCCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	160	0.0063	15	c.57 others(24): Show c.576_*577insCCCTCCCCCCCTCCC	DEFB106A	ENSG00000186579.3	transcript	ENST00000335186.3	protein_coding		477		chr8	TogoVar
DEFB106A_chr8_7820139_7834053	7829529	T T	TCCCTCCC others(8): Show TCCCTCCCCCCTCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01243.hp1 HG01256.hp2 others(6): Show HG01070.hp2 HG01243.hp1 HG01256.hp2 HG01993.hp2 HG02015.hp2 HG02135.hp1 HG02280.hp2 NA18944.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0019 others(5): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0019 a0001c0001t0001g0041 a0001c0001t0001g0060 a0001c0001t0001g0066 a0001c0002t0001g0002 a0001c0002t0001g0017	9	160	0.0563	15	c.57 others(24): Show c.576_*577insCCCTCCCCCCTCCCC	DEFB106A	ENSG00000186579.3	transcript	ENST00000335186.3	protein_coding		477		chr8	TogoVar
DEFB106A_chr8_7820139_7834053	7829533	T T	TCCCCCCT others(8): Show TCCCCCCTCCCCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG01123.hp1 HG01169.hp2 others(3): Show HG00280.hp2 HG01123.hp1 HG01169.hp2 HG02293.hp1 NA18944.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0011 a0001c0001t0001g0042 a0001c0002t0001g0002 others(2): Show a0001c0001t0001g0011 a0001c0001t0001g0042 a0001c0002t0001g0002 a0001c0002t0001g0013 a0001c0002t0001g0026	6	160	0.0375	15	c.58 others(24): Show c.580_*581insCCCCCCTCCCCCCTC	DEFB106A	ENSG00000186579.3	transcript	ENST00000335186.3	protein_coding		481		chr8	TogoVar
DEFB106A_chr8_7820139_7834053	7829540	T T	TCCCCCCT others(8): Show TCCCCCCTCCCCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG01358.hp2 HG00609.hp1 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0063 a0001c0001t0001g0006 a0001c0001t0001g0063	2	160	0.0125	15	c.58 others(24): Show c.587_*588insCCCCCCTCCCCCCTC	DEFB106A	ENSG00000186579.3	transcript	ENST00000335186.3	protein_coding		488		chr8	TogoVar
DEFB106A_chr8_7820139_7834053	7829545	C C	CCTCCCCC others(8): Show CCTCCCCCCCTCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	160	0.0063	15	c.59 others(24): Show c.592_*593insCTCCCCCCCTCCCCA	DEFB106A	ENSG00000186579.3	transcript	ENST00000335186.3	protein_coding		493		chr8	TogoVar
DEFB107A_chr8_7806720_7820716	7815247	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	170	0.0059	15	c.70+ others(28): Show c.70+297_70+311dupTTTTTTTTTTTTTTT	DEFB107A	ENSG00000186572.2	transcript	ENST00000335021.2	protein_coding	1/1			chr8	TogoVar
DEFB107A_chr8_7806720_7820716	7816064	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02451.hp2 HG02145.hp1 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0044 a0001c0001t0001g0047	2	170	0.0118	15	c.-43 others(24): Show c.-437_-436insAAAAAAAAAAAAAAA	DEFB107A	ENSG00000186572.2	transcript	ENST00000335021.2	protein_coding		349		chr8	TogoVar
DEFB115_chr20_31252664_31264632	31263910	A A	ACAAGGAA others(8): Show ACAAGGAAACAGACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0001 a0001c0001t0000g0001	1	436	0.0023	15	c.42 others(26): Show c.4278_*4279insCAAGGAAACAGACAT	DEFB115	ENSG00000215547.1	transcript	ENST00000400552.1	protein_coding		4279		chr20	TogoVar

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