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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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
DERA_chr12_15906332_16042381	15973428	A A	ATAATAGC others(20): Show ATAATAGCCTACCAAATTATTATTTTTC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00438.hp1 others(186): Show HG00280.hp1 HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01243.hp1 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01516.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03834.hp1 HG03834.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp2 NA18943.hp2 NA18949.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18984.hp1 NA18984.hp2 NA18989.hp1 NA18989.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19062.hp1 NA19062.hp2 NA19070.hp1 NA19070.hp2 NA19078.hp1 NA19078.hp2 NA19087.hp1 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp1 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0004 a0001c0001 a0001c0003 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0003t0001 a0001c0003t0004 a0003c0004t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(186): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0049 a0001c0001t0002g0056 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0090 a0001c0001t0002g0119 a0001c0001t0002g0124 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0152 a0001c0001t0002g0154 a0001c0001t0002g0161 a0001c0001t0002g0168 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0201 a0001c0001t0002g0217 a0001c0001t0002g0222 a0001c0001t0002g0240 a0001c0001t0002g0254 a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0009 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0017 a0001c0001t0003g0019 a0001c0001t0004g0213 a0001c0001t0006g0010 a0001c0003t0001g0073 a0001c0003t0004g0072 a0003c0004t0001g0225	189	258	0.7326	27	c.509 others(44): Show c.509-8875_509-8874insGCCTACCAAATTATTATTTTTCTAATA	DERA	ENSG00000023697.13	transcript	ENST00000428559.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
DERA_chr12_15906332_16042381	15991949	A A	AATTTTAT others(20): Show AATTTTATTTGACAATAACACAATCAAT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	258	0.0039	27	c.637 others(44): Show c.637+9514_637+9515insTTTTATTTGACAATAACACAATCAATA	DERA	ENSG00000023697.13	transcript	ENST00000428559.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
DESI1_chr22_41593028_41626043	41594335	G G	GGGTGGGG others(20): Show GGGTGGGGGGGTGGGGGGGTGGGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG01943.hp1 HG02080.hp2 others(5): Show HG00597.hp1 HG01943.hp1 HG02080.hp2 HG03225.hp2 NA18522.hp1 NA19060.hp2 NA20129.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0024 a0001c0001t0001 a0001c0001t0002 a0001c0001t0024	a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0127 others(4): Show a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0127 a0001c0001t0001g0137 a0001c0001t0001g0169 a0001c0001t0002g0016 a0001c0001t0024g0126	8	308	0.0260	27	c.67 others(38): Show c.6761_*6762insGCCCCCCCACCCCCCCACCCCCCCACC	DESI1	ENSG00000100418.8	transcript	ENST00000263256.7	protein_coding		3692		chr22	TogoVar
DGAT1_chr8_144309584_144331852	144313736	G G	GCGCCGCC others(20): Show GCGCCGCCTCCCCGCCTCCCCGCCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	370	0.0027	27	c.28 others(38): Show c.2817_*2818insGGGAGGCGGGGAGGCGGGGAGGCGGCG	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		847		chr8	TogoVar
DGAT1_chr8_144309584_144331852	144313775	G G	GCCTCCCC others(20): Show GCCTCCCCGCCTCCCCGCCTCCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	370	0.0027	27	c.27 others(38): Show c.2778_*2779insAGGCGGGGAGGCGGGGAGGCGGGGAGG	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		808		chr8	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGCG others(20): Show TGTGTGCGTGCGCGCGAGCGCGGCATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	392	0.0026	27	c.-28 others(38): Show c.-2845_-2844insGCATGCCGCGCTCGCGCGCACGCACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(20): Show TGTGTGTGTGCGCGCGCTGCGCGCACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	392	0.0026	27	c.-28 others(38): Show c.-2845_-2844insGCGTGCGCGCAGCGCGCGCACACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(20): Show TGTGTGTGTGTGCGCGGCGCGCGCACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	392	0.0026	27	c.-28 others(38): Show c.-2845_-2844insGCGTGCGCGCGCCGCGCACACACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGKB_chr7_14140049_14907751	14758928	G G	GATGATAG others(20): Show GATGATAGATAGATAGATAGATAGATAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA18906.hp1 HG02280.hp2 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0009 a0002c0005 a0001c0009 a0002c0005	a0001c0009t0002 a0002c0005t0011 a0001c0009t0002 a0002c0005t0011	a0001c0009t0002g0082 a0002c0005t0011g0079 a0001c0009t0002g0082 a0002c0005t0011g0079	2	148	0.0135	27	c.71- others(42): Show c.71-1198_71-1197insGTATCTATCTATCTATCTATCTATCAT	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	2/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14852487	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0130 a0001c0003t0005g0130	1	148	0.0068	27	c.-18 others(48): Show c.-187-11038_-187-11037insTTTTTTTTTTTTTTTTTTTTTTTT TTT	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	1/25			chr7	TogoVar
DGKH_chr13_42043648_42247896	42159244	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00408.hp1 HG00609.hp2 HG00738.hp2 others(5): Show HG00408.hp1 HG00609.hp2 HG00738.hp2 HG01168.hp2 HG02004.hp2 NA18988.hp1 NA19091.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0064 a0001c0001t0066	a0001c0001t0001g0249 a0001c0001t0003g0024 a0001c0001t0003g0264 others(5): Show a0001c0001t0001g0249 a0001c0001t0003g0024 a0001c0001t0003g0264 a0001c0001t0004g0051 a0001c0001t0005g0219 a0001c0001t0005g0227 a0001c0001t0064g0267 a0001c0001t0066g0272	8	316	0.0253	27	c.623 others(38): Show c.623-3_623-2insTTTTTTTTTTTTTTTTTTTTTTTTTTT	DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	5/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKI_chr7_137376037_137851974	137618151	A A	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0003 a0001c0013t0003	a0001c0013t0003g0075 a0001c0013t0003g0075	1	94	0.0106	27	c.993 others(44): Show c.993+1672_993+1673insAAAAAAATATATATATATATATATATA	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	8/32			chr7	TogoVar
DGKI_chr7_137376037_137851974	137618151	A A	ATATATAT others(20): Show ATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0039 a0001c0013t0039	a0001c0013t0039g0068 a0001c0013t0039g0068	1	94	0.0106	27	c.993 others(44): Show c.993+1672_993+1673insAAAAAAAAAAATATATATATATATATA	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	8/32			chr7	TogoVar
DGKI_chr7_137376037_137851974	137618152	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0004 a0001c0014t0004	a0001c0014t0004g0029 a0001c0014t0004g0029	1	94	0.0106	27	c.993 others(44): Show c.993+1671_993+1672insTATATATATATATATATATATATATAT	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	8/32			chr7	TogoVar
DGLUCY_chr14_91109073_91230632	91202058	A A	AAATAATA others(20): Show AAATAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01361.hp2 HG01069.hp2 HG01071.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0003g0085 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0003g0085	3	216	0.0139	27	c.144 others(46): Show c.1444+2154_1444+2180dupAATAATAATAATAATAATAATAATAA T	DGLUCY	ENSG00000133943.21	transcript	ENST00000256324.15	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
DGLUCY_chr14_91109073_91230632	91205754	C C	CTCTTCTT others(20): Show CTCTTCTTCTTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01256.hp1 HG02451.hp1 others(3): Show HG01169.hp2 HG01256.hp1 HG02451.hp1 HG02622.hp2 HG02895.hp2 HG02897.hp2	a0003 a0005 a0014 a0003 a0005 a0014	a0003c0003 a0005c0009 a0014c0027 a0003c0003 a0005c0009 a0014c0027	a0003c0003t0001 a0005c0009t0001 a0014c0027t0002 a0003c0003t0001 a0005c0009t0001 a0014c0027t0002	a0003c0003t0001g0116 a0003c0003t0001g0158 a0005c0009t0001g0145 others(3): Show a0003c0003t0001g0116 a0003c0003t0001g0158 a0005c0009t0001g0145 a0005c0009t0001g0148 a0005c0009t0001g0149 a0014c0027t0002g0140	6	216	0.0278	27	c.156 others(44): Show c.1564+945_1564+971dupTCTTCTTCTTCTTCTTCTTCTTCTTCT	DGLUCY	ENSG00000133943.21	transcript	ENST00000256324.15	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
DGUOK_chr2_73921880_73963946	73923662	A A	AAGAAAAG others(20): Show AAGAAAAGAAAAGAAAAGAAAAGAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0094	1	352	0.0028	27	c.-32 others(38): Show c.-3249_-3248insAGAAAAGAAAAGAAAAGAAAAGAAAAG	DGUOK	ENSG00000114956.20	transcript	ENST00000264093.9	protein_coding		3217		chr2	TogoVar
DHFR_chr5_80621226_80659983	80654899	G G	GCAGCGCC others(20): Show GCAGCGCCCCCAGCGCCCCCAGCGCCCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01496.hp2 HG02257.hp2 HG02451.hp1 others(2): Show HG01496.hp2 HG02257.hp2 HG02451.hp1 HG02970.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0026 a0001c0001t0018 a0001c0001t0026	a0001c0001t0018g0044 a0001c0001t0018g0163 a0001c0001t0026g0162 others(1): Show a0001c0001t0018g0044 a0001c0001t0018g0163 a0001c0001t0026g0162 a0001c0001t0026g0164	5	376	0.0133	27	c.-41 others(36): Show c.-411_-410insGGGGCGCTGGGGGCGCTGGGGGCGCTG	DHFR	ENSG00000228716.7	transcript	ENST00000439211.7	protein_coding	1/6	411		chr5	TogoVar
DHFR_chr5_80621226_80659983	80654908	G G	GCAGCGCC others(20): Show GCAGCGCCCCCAGCGCCCCCAGCGCCCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0161 a0001c0001t0047g0161	1	376	0.0027	27	c.-42 others(36): Show c.-420_-419insGGGGCGCTGGGGGCGCTGGGGGCGCTG	DHFR	ENSG00000228716.7	transcript	ENST00000439211.7	protein_coding	1/6	420		chr5	TogoVar
DHRS4L2_chr14_23983929_24011403	24001957	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01168.hp1 HG01099.hp2 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0015 a0001c0005t0001g0011 a0001c0001t0001g0015 a0001c0005t0001g0011	2	32	0.0625	27	c.665 others(42): Show c.665+456_665+457insTTTTTTTTTTTTTTTTTTTTTTTTTTT	DHRS4L2	ENSG00000187630.18	transcript	ENST00000335125.11	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
DHRSX_chrX_2214506_2505976	2227793	A A	AGGGAGGG others(20): Show AGGGAGGGAGGGAGGGAGGAAGGAAGGG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0014 a0008c0010t0014	a0008c0010t0014g0046 a0008c0010t0014g0046	1	50	0.0200	27	c.805 others(44): Show c.805-6565_805-6564insCCCTTCCTTCCTCCCTCCCTCCCTCCC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	6/6			chrX	TogoVar
DHX15_chr4_24522475_24589554	24550094	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	374	0.0027	27	c.108 others(46): Show c.1081-1099_1081-1073dupTTTTTTTTTTTTTTTTTTTTTTTTTT T	DHX15	ENSG00000109606.13	transcript	ENST00000336812.5	protein_coding	5/13			chr4	TogoVar
DHX29_chr5_55251055_55312694	55260527	G G	GGCCTGGG others(20): Show GGCCTGGGGTGTAACATTTTTTAAAACA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00741.hp1 HG01168.hp2 others(40): Show HG00609.hp1 HG00741.hp1 HG01168.hp2 HG01433.hp1 HG01891.hp2 HG01952.hp2 HG01993.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp2 HG02280.hp2 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02818.hp2 HG02896.hp1 HG02897.hp2 HG03098.hp2 HG03471.hp2 HG03516.hp1 HG03579.hp2 HG03669.hp2 HG03942.hp1 HG04204.hp1 NA18612.hp1 NA18947.hp1 NA18950.hp2 NA18953.hp2 NA18961.hp2 NA18970.hp1 NA18972.hp1 NA18977.hp1 NA18978.hp2 NA18983.hp1 NA18994.hp2 NA19064.hp1 NA19066.hp1 NA19068.hp1 NA19081.hp1 NA19082.hp2 NA19083.hp2 NA21309.hp2	a0001 a0003 a0010 a0001 a0003 a0010	a0001c0001 a0001c0013 a0003c0004 others(1): Show a0001c0001 a0001c0013 a0003c0004 a0010c0019	a0001c0001t0002 a0001c0013t0002 a0003c0004t0004 others(1): Show a0001c0001t0002 a0001c0013t0002 a0003c0004t0004 a0010c0019t0002	a0001c0001t0002g0006 a0001c0001t0002g0010 a0001c0001t0002g0011 others(28): Show a0001c0001t0002g0006 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0013t0002g0202 a0003c0004t0004g0041 a0003c0004t0004g0042 a0010c0019t0002g0207	43	340	0.1265	27	c.396 others(44): Show c.3961-584_3961-583insTGTTTTAAAAAATGTTACACCCCAGGC	DHX29	ENSG00000067248.11	transcript	ENST00000251636.10	protein_coding	25/26			chr5	TogoVar
DHX29_chr5_55251055_55312694	55260527	G G	GGCCTGGG others(20): Show GGCCTGGGGTGTAACATTTTTTAAAATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00423.hp1 others(219): Show HG00140.hp1 HG00140.hp2 HG00423.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01993.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp1 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02155.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp2 NA18946.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp1 NA18953.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18960.hp1 NA18961.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp2 NA18975.hp1 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18987.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp2 NA18993.hp1 NA18994.hp1 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19006.hp2 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19056.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19066.hp2 NA19067.hp2 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19075.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19083.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0009	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0010 a0001c0015 a0001c0016 a0002c0006 a0004c0005 a0005c0018 a0006c0017 a0007c0012 a0008c0011 a0009c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(13): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0001c0003t0001 a0001c0007t0001 a0001c0010t0001 a0001c0015t0001 a0001c0016t0001 a0002c0006t0001 a0004c0005t0001 a0005c0018t0001 a0006c0017t0001 a0007c0012t0001 a0008c0011t0001 a0009c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(174): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0005g0265 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0254 a0001c0003t0001g0070 a0001c0003t0001g0091 a0001c0003t0001g0112 a0001c0007t0001g0035 a0001c0010t0001g0120 a0001c0015t0001g0097 a0001c0016t0001g0140 a0002c0006t0001g0045 a0002c0006t0001g0124 a0004c0005t0001g0053 a0004c0005t0001g0054 a0005c0018t0001g0110 a0006c0017t0001g0261 a0007c0012t0001g0099 a0008c0011t0001g0185 a0009c0009t0001g0077	222	340	0.6529	27	c.396 others(44): Show c.3961-584_3961-583insTATTTTAAAAAATGTTACACCCCAGGC	DHX29	ENSG00000067248.11	transcript	ENST00000251636.10	protein_coding	25/26			chr5	TogoVar
DHX9_chr1_182834347_182892982	182868520	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0057 a0001c0004t0001g0057	1	276	0.0036	27	c.155 others(46): Show c.1557+1491_1557+1492insTTTTTTTTTTTTTTTTTTTTTTTTTT T	DHX9	ENSG00000135829.17	transcript	ENST00000367549.4	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
DIAPH2_chrX_96679842_97609997	96807944	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	147	0.0068	27	c.447 others(46): Show c.447+49699_447+49725dupAAAAAAAAAAAAAAAAAAAAAAAAAA A	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	4/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	96939668	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0025 a0001c0001t0003g0025	1	147	0.0068	27	c.132 others(44): Show c.1325+300_1325+301insTTTTTTTTTTTTTTTTTTTTTTTTTTT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	12/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97570123	T T	TATATATA others(20): Show TATATATATTAGAAGATAGATAGATAGA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0144 a0001c0001t0015g0144	1	147	0.0068	27	c.324 others(48): Show c.3242-29130_3242-29129insATATATATTAGAAGATAGATAGAT AGA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	26/26			chrX	TogoVar
DIAPH3_chr13_59660583_60168928	59729810	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	208	0.0048	27	c.331 others(48): Show c.3319+44378_3319+44379insAAAAAAAAAAAAAAAAAAAAAAAA AAA	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	27/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	59762052	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 NA19078.hp2 NA20129.hp1 HG01070.hp1 NA19078.hp2 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0003c0008 a0001c0001 a0001c0006 a0003c0008	a0001c0001t0001 a0001c0006t0002 a0003c0008t0001 a0001c0001t0001 a0001c0006t0002 a0003c0008t0001	a0001c0001t0001g0119 a0001c0006t0002g0153 a0003c0008t0001g0195 a0001c0001t0001g0119 a0001c0006t0002g0153 a0003c0008t0001g0195	3	208	0.0144	27	c.331 others(48): Show c.3319+12110_3319+12136dupAAAAAAAAAAAAAAAAAAAAAAAA AAA	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	27/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	60125394	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	208	0.0048	27	c.213 others(44): Show c.213+7562_213+7563insAAAAAAAAAAAAAAAAAAAAAAAAAAA	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	2/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	60156940	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0134 a0001c0001t0007g0134	1	208	0.0048	27	c.180 others(44): Show c.180+6646_180+6647insTATATATATATATATATATATATATAT	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	1/27			chr13	TogoVar
DIDO1_chr20_62872743_62931505	62929693	G G	GTATATAA others(20): Show GTATATAATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0255 a0003c0003t0001g0255	1	320	0.0031	27	c.-34 others(38): Show c.-3455_-3454insTATATATATATATATATATATTATATA	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		3189		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62929706	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	320	0.0031	27	c.-34 others(38): Show c.-3468_-3467insTATATATATATATATATATATATATAT	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		3202		chr20	TogoVar
DIMT1_chr5_62382254_62408905	62396139	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp2 NA18945.hp2 others(3): Show NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18957.hp2 NA18979.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0084 a0001c0001t0002g0085 others(2): Show a0001c0001t0002g0027 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0108 a0001c0001t0002g0201	6	404	0.0149	27	c.447 others(44): Show c.447-1533_447-1532insAAAAAAAAAAAAAAAAAAAAAAAAAAA	DIMT1	ENSG00000086189.11	transcript	ENST00000199320.9	protein_coding	6/11			chr5	TogoVar
DIP2A_chr21_46453891_46575015	46477543	T T	TTTGTGTG others(20): Show TTTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0001 a0003c0017t0001	a0003c0017t0001g0163 a0003c0017t0001g0163	1	374	0.0027	27	c.92- others(42): Show c.92-7213_92-7212insTGTGTGTGTGTGTGTGTGTGTGTGTGT	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr21	TogoVar
DIP2B_chr12_50499985_50753657	50501219	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01243.hp2 HG01978.hp2 others(8): Show HG01192.hp1 HG01243.hp2 HG01978.hp2 HG02280.hp1 HG02976.hp2 HG03239.hp1 HG03516.hp1 HG03654.hp2 HG03688.hp2 NA18950.hp1 NA21309.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0009c0020	a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 others(7): Show a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0025 a0001c0001t0029 a0001c0002t0004 a0001c0002t0013 a0001c0008t0008 a0009c0020t0023	a0001c0001t0011g0080 a0001c0001t0015g0075 a0001c0001t0016g0085 others(8): Show a0001c0001t0011g0080 a0001c0001t0015g0075 a0001c0001t0016g0085 a0001c0001t0019g0096 a0001c0001t0025g0077 a0001c0001t0029g0076 a0001c0002t0004g0209 a0001c0002t0004g0238 a0001c0002t0013g0112 a0001c0008t0008g0260 a0009c0020t0023g0100	11	284	0.0387	27	c.-39 others(38): Show c.-3922_-3921insAAAAAAAAAAAAAAAAAAAAAAAAAAA	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding		3765		chr12	TogoVar
DIP2B_chr12_50499985_50753657	50505001	T T	TGGCGGCG others(20): Show TGGCGGCGGCGGCGGCGGCGGCGGCGGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01256.hp1 HG03239.hp1 HG01256.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0084 a0001c0001t0016g0085 a0001c0001t0016g0084 a0001c0001t0016g0085	2	284	0.0070	27	c.-11 others(36): Show c.-117_-116insCGGCGGCGGCGGCGGCGGCGGCGGCGG	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/38	116	INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50505022	C C	CGGCGGCG others(20): Show CGGCGGCGGCGGCGGCGGCGGCGGCGGT	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0095 a0001c0001t0028g0095	1	284	0.0035	27	c.-11 others(36): Show c.-117_-116insCGGCGGCGGCGGCGGCGGCGGCGGTGG	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/38	116	INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50593769	T T	TCCCCTCC others(20): Show TCCCCTCCCCTCCCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0269 a0001c0001t0037g0269	1	284	0.0035	27	c.101 others(46): Show c.101-32193_101-32192insTCCCCTCCCCTCCCCCCTCCCCTCCC C	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50593894	C C	CCCTCTCC others(20): Show CCCTCTCCTCCCCTCCCCTCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0067 a0001c0003t0002g0067	1	284	0.0035	27	c.101 others(46): Show c.101-32080_101-32079insTCTCCTCCCCTCCCCTCCCTCCCCTC C	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	478315	A A	AGGGGAGG others(20): Show AGGGGAGGGGAGAAGAAGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0031 a0001c0002t0001g0031	1	88	0.0114	27	c.158 others(44): Show c.158-5767_158-5766insCCTCCCCTCCCTTCTTCTCCCCTCCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DIP2C_chr10_269201_694668	528340	A A	AGCAGACC others(20): Show AGCAGACCGCCCGCTGCCCACCCAGAAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0003 a0001c0009t0003	a0001c0009t0003g0003 a0001c0009t0003g0003	1	88	0.0114	27	c.86- others(44): Show c.86-41837_86-41811dupGTTCTGGGTGGGCAGCGGGCGGTCTGC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	557836	A A	AGGCAGGC others(20): Show AGGCAGGCAGGAAGGGGGAGGGGGCAGG	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	88	0.0114	27	c.86- others(44): Show c.86-71333_86-71307dupCCTGCCCCCTCCCCCTTCCTGCCTGCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	608602	C C	CCCACACA others(20): Show CCCACACACACACACATCCCCCCCCCCA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0058 a0001c0006t0002g0058	1	88	0.0114	27	c.85+ others(44): Show c.85+80891_85+80892insTGGGGGGGGGGATGTGTGTGTGTGTGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIPK1A_chr1_92837167_92966462	92959902	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	200	0.0050	27	c.54+ others(42): Show c.54+1473_54+1474insAAAAAAAAAAAAAAAAAAAAAAAAAAA	DIPK1A	ENSG00000154511.12	transcript	ENST00000370310.5	protein_coding	1/4			chr1	TogoVar
DIS3L2_chr2_231956713_232342192	232012490	T T	TGTTTTTG others(20): Show TGTTTTTGGGTTGCTGGCAGTTTGTTTG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0006 a0001c0018t0001g0006	1	304	0.0033	27	c.-93 others(44): Show c.-93-2345_-93-2344insGTTTTTGGGTTGCTGGCAGTTTGTTTG	DIS3L2	ENSG00000144535.20	transcript	ENST00000325385.12	protein_coding	1/20			chr2	TogoVar
DIS3L2_chr2_231956713_232342192	232333176	G G	GCCTCCTC others(20): Show GCCTCCTCCTCCTCCTCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG03098.hp2 HG01257.hp2 HG03098.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0001 a0002c0008t0002 a0001c0001t0001 a0002c0008t0002	a0001c0001t0001g0200 a0002c0008t0002g0193 a0001c0001t0001g0200 a0002c0008t0002g0193	2	304	0.0066	27	c.201 others(44): Show c.2011-646_2011-620dupTCCTCCTCCTCCTCCTCCTCCTCCTCC	DIS3L2	ENSG00000144535.20	transcript	ENST00000325385.12	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr2	TogoVar
DIS3L2_chr2_231956713_232342192	232333191	T T	TCCTCCTC others(20): Show TCCTCCTCCTCCTCCTCCTCCGCTGTCG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	304	0.0033	27	c.201 others(44): Show c.2011-629_2011-628insGCTGTCGCCTCCTCCTCCTCCTCCTCC	DIS3L2	ENSG00000144535.20	transcript	ENST00000325385.12	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr2	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0097 a0001c0001t0003g0097	1	400	0.0025	27	c.558 others(42): Show c.558+251_558+252insAAAAAAAAAAAAATATATATATATATA	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr15	TogoVar

Search by Variant

Search

Search Results (Total: 7463 hits)