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
DHX15_chr4_24522475_24589554	24555914	C C	CTTGATCT others(15): Show CTTGATCTTTAGGACATGGATCT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02970.hp2 HG02809.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0034 a0001c0001t0001g0035	2	374	0.0054	22	c.861 others(37): Show c.861+336_861+337insAGATCCATGTCCTAAAGATCAA	DHX15	ENSG00000109606.13	transcript	ENST00000336812.5	protein_coding	4/13			chr4	TogoVar
DHX15_chr4_24522475_24589554	24574205	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18942.hp1 HG00544.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0320 a0001c0001t0001g0321	2	374	0.0054	22	c.507 others(39): Show c.507+2016_507+2037dupTTTTTTTTTTTTTTTTTTTTTT	DHX15	ENSG00000109606.13	transcript	ENST00000336812.5	protein_coding	2/13			chr4	TogoVar
DHX36_chr3_154267546_154329487	154310827	A A	ATATACAT others(15): Show ATATACATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0181 a0001c0004t0008g0181	1	366	0.0027	22	c.642 others(37): Show c.642+808_642+809insCATATATATATATATATGTATA	DHX36	ENSG00000174953.14	transcript	ENST00000496811.6	protein_coding	4/24			chr3	TogoVar
DHX37_chr12_124941826_124994131	124983418	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01975.hp2 HG02004.hp2 others(1): Show HG01943.hp2 HG01975.hp2 HG02004.hp2 HG02293.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0002 a0003c0007 a0005c0017 a0001c0002 a0003c0007 a0005c0017	a0001c0002t0002 a0003c0007t0001 a0005c0017t0002 a0001c0002t0002 a0003c0007t0001 a0005c0017t0002	a0001c0002t0002g0254 a0003c0007t0001g0251 a0003c0007t0001g0252 others(1): Show a0001c0002t0002g0254 a0003c0007t0001g0251 a0003c0007t0001g0252 a0005c0017t0002g0253	4	370	0.0108	22	c.277 others(37): Show c.277-817_277-796dupGTGTGTGTGTGTGTGTGTGTGT	DHX37	ENSG00000150990.9	transcript	ENST00000308736.7	protein_coding	2/26			chr12	TogoVar
DHX38_chr16_72088847_72117912	72098310	A A	ATAATCCC others(15): Show ATAATCCCAGCTATTCGGTAGGC	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	380	0.0026	22	c.617 others(37): Show c.617-333_617-312dupAATCCCAGCTATTCGGTAGGCT	DHX38	ENSG00000140829.12	transcript	ENST00000268482.8	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr16	TogoVar
DHX9_chr1_182834347_182892982	182868520	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA18522.hp2 NA19240.hp2 HG02970.hp1 NA18522.hp2 NA19240.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0217 a0001c0004t0001g0218 a0001c0004t0001g0219 a0001c0004t0001g0217 a0001c0004t0001g0218 a0001c0004t0001g0219	3	276	0.0109	22	c.155 others(41): Show c.1557+1491_1557+1492insTTTTTTTTTTTTTTTTTTTTTT	DHX9	ENSG00000135829.17	transcript	ENST00000367549.4	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
DIAPH1_chr5_141510021_141624000	141591695	G G	GATATATA others(15): Show GATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01192.hp1 HG03540.hp1 others(3): Show HG00738.hp1 HG01192.hp1 HG03540.hp1 HG03704.hp2 NA18522.hp1 NA21309.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0007 a0001c0001 a0008c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0008c0007t0003	a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0270 others(3): Show a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0270 a0001c0001t0003g0141 a0001c0001t0009g0115 a0008c0007t0003g0011	6	336	0.0179	22	c.118 others(39): Show c.118-3467_118-3446dupATATATATATATATATATATAT	DIAPH1	ENSG00000131504.18	transcript	ENST00000389054.8	protein_coding	1/27			chr5	TogoVar
DIAPH2_chrX_96679842_97609997	96751647	G G	GTTTTTTT others(15): Show GTTTTTTTGTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	147	0.0068	22	c.343 others(39): Show c.343-6503_343-6502insTTTGTTTTTTTTTTTTTTTTTT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	3/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	96751647	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTGT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0115	1	147	0.0068	22	c.343 others(39): Show c.343-6503_343-6502insTTTTTTTTTTTTTTTTGTTTTT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	3/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	96807944	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0012 a0001c0001t0014g0012	1	147	0.0068	22	c.447 others(41): Show c.447+49704_447+49725dupAAAAAAAAAAAAAAAAAAAAAA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	4/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	96854598	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0103	1	147	0.0068	22	c.448 others(41): Show c.448-26958_448-26937dupATATATATATATATATATATAT	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(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA18994.hp1 NA20129.hp2 others(1): Show HG02132.hp1 NA18994.hp1 NA20129.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 a0001c0001t0001 a0001c0001t0002 a0001c0001t0015	a0001c0001t0001g0042 a0001c0001t0002g0038 a0001c0001t0002g0043 others(1): Show a0001c0001t0001g0042 a0001c0001t0002g0038 a0001c0001t0002g0043 a0001c0001t0015g0144	4	147	0.0272	22	c.132 others(39): Show c.1325+300_1325+301insTTTTTTTTTTTTTTTTTTTTTT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	12/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97187281	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0143 a0001c0001t0012g0143	1	147	0.0068	22	c.271 others(43): Show c.2719+45489_2719+45510dupTTTTTTTTTTTTTTTTTTTTTT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	22/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97300931	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03540.hp1 HG02602.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0111 a0001c0001t0001g0018 a0001c0001t0001g0111	2	147	0.0136	22	c.284 others(43): Show c.2845-47172_2845-47151dupAAAAAAAAAAAAAAAAAAAAAA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	23/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97588996	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01256.hp1 NA18962.hp1 HG01071.hp2 HG01256.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0073 a0001c0001t0001g0116 a0001c0001t0002g0030 a0001c0001t0001g0073 a0001c0001t0001g0116 a0001c0001t0002g0030	3	147	0.0204	22	c.324 others(43): Show c.3242-10247_3242-10226dupTATATATATATATATATATATA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	26/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH3_chr13_59660583_60168928	59762052	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0041 a0002c0004t0001g0041	1	208	0.0048	22	c.331 others(43): Show c.3319+12115_3319+12136dupAAAAAAAAAAAAAAAAAAAAAA	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	27/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	59767909	T T	TGTTTGAT others(15): Show TGTTTGATAATGACTATGCCAAA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18955.hp1 NA18962.hp1 others(4): Show NA18747.hp1 NA18955.hp1 NA18962.hp1 NA18969.hp2 NA18983.hp1 NA18986.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0189 a0001c0002t0001g0111 a0001c0002t0001g0146 others(4): Show a0001c0001t0001g0189 a0001c0002t0001g0111 a0001c0002t0001g0146 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193	7	208	0.0337	22	c.331 others(41): Show c.3319+6258_3319+6279dupTTTGGCATAGTCATTATCAAAC	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	27/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	60138785	G G	GAGGGAAG others(15): Show GAGGGAAGAGGGAAGAGGGAAGA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01928.hp1 HG01943.hp2 others(8): Show HG00621.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG01993.hp2 HG02004.hp2 HG02040.hp2 HG02148.hp2 NA18612.hp1 NA18990.hp2 NA19064.hp1	a0002 a0002	a0002c0003 a0002c0004 a0002c0009 a0002c0003 a0002c0004 a0002c0009	a0002c0003t0002 a0002c0004t0001 a0002c0004t0002 others(2): Show a0002c0003t0002 a0002c0004t0001 a0002c0004t0002 a0002c0004t0005 a0002c0009t0001	a0002c0003t0002g0038 a0002c0003t0002g0044 a0002c0004t0001g0036 others(8): Show a0002c0003t0002g0038 a0002c0003t0002g0044 a0002c0004t0001g0036 a0002c0004t0001g0040 a0002c0004t0001g0041 a0002c0004t0001g0042 a0002c0004t0001g0051 a0002c0004t0001g0057 a0002c0004t0002g0045 a0002c0004t0005g0039 a0002c0009t0001g0043	11	208	0.0529	22	c.181 others(39): Show c.181-5797_181-5796insTCTTCCCTCTTCCCTCTTCCCT	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	1/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	60156918	C C	CACATATA others(15): Show CACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	208	0.0048	22	c.180 others(39): Show c.180+6668_180+6669insATATATATATATATATATATGT	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	1/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	60156918	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	208	0.0048	22	c.180 others(39): Show c.180+6647_180+6668dupATATATATATATATATATATAT	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	1/27			chr13	TogoVar
DICER1_chr14_95081228_95162529	95125574	T T	TGGGGGAA others(15): Show TGGGGGAAGGGGAGGAGGAGGGG	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	306	0.0033	22	c.904 others(37): Show c.904-928_904-907dupCCCCTCCTCCTCCCCTTCCCCC	DICER1	ENSG00000100697.17	transcript	ENST00000343455.8	protein_coding	7/26			chr14	TogoVar
DICER1_chr14_95081228_95162529	95148972	T T	TTGCCCAG others(15): Show TTGCCCAGGCCAGAGTGCCATGG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01255.hp2 others(14): Show HG01167.hp1 HG01169.hp2 HG01255.hp2 HG01884.hp2 HG02622.hp1 HG02647.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG03195.hp2 HG03225.hp2 HG06807.hp1 NA18906.hp2 NA19043.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0015 a0001c0002 a0001c0015	a0001c0002t0008 a0001c0015t0032 a0001c0002t0008 a0001c0015t0032	a0001c0002t0008g0003 a0001c0002t0008g0006 a0001c0002t0008g0028 others(9): Show a0001c0002t0008g0003 a0001c0002t0008g0006 a0001c0002t0008g0028 a0001c0002t0008g0029 a0001c0002t0008g0030 a0001c0002t0008g0031 a0001c0002t0008g0032 a0001c0002t0008g0033 a0001c0002t0008g0034 a0001c0002t0008g0035 a0001c0002t0008g0036 a0001c0015t0032g0188	17	306	0.0556	22	c.-46 others(39): Show c.-46+8257_-46+8258insCCATGGCACTCTGGCCTGGGCA	DICER1	ENSG00000100697.17	transcript	ENST00000343455.8	protein_coding	1/26			chr14	TogoVar
DIDO1_chr20_62872743_62931505	62929692	A A	AATATATA others(15): Show AATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	320	0.0031	22	c.-34 others(33): Show c.-3454_-3453insATATATATATATATATATATAT	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		3188		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62929693	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG01175.hp2 HG01192.hp1 others(11): Show HG00438.hp1 HG01175.hp2 HG01192.hp1 HG01952.hp1 HG01993.hp2 HG02015.hp2 HG02486.hp2 HG02559.hp2 HG02970.hp2 HG03195.hp2 HG03492.hp1 HG04228.hp1 NA18612.hp1 NA19011.hp1	a0001 a0012 a0028 a0001 a0012 a0028	a0001c0001 a0001c0009 a0001c0012 others(3): Show a0001c0001 a0001c0009 a0001c0012 a0001c0059 a0012c0018 a0028c0032	a0001c0001t0001 a0001c0009t0001 a0001c0009t0007 others(4): Show a0001c0001t0001 a0001c0009t0001 a0001c0009t0007 a0001c0012t0001 a0001c0059t0001 a0012c0018t0001 a0028c0032t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0012 others(11): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0032 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0095 a0001c0001t0001g0103 a0001c0009t0001g0045 a0001c0009t0007g0029 a0001c0012t0001g0069 a0001c0059t0001g0059 a0012c0018t0001g0097 a0028c0032t0001g0086	14	320	0.0438	22	c.-34 others(33): Show c.-3455_-3454insTATATATATATATATATATATA	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		3189		chr20	TogoVar
DIP2A_chr21_46453891_46575015	46477543	T T	TTTTGTGT others(15): Show TTTTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01515.hp2 HG02451.hp2 others(7): Show HG00639.hp1 HG01515.hp2 HG02451.hp2 HG02630.hp1 HG02723.hp1 HG03041.hp2 HG03098.hp2 HG03453.hp1 HG04199.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0006 others(2): Show a0001c0002 a0001c0005 a0001c0006 a0001c0010 a0001c0027	a0001c0002t0001 a0001c0005t0004 a0001c0005t0021 others(4): Show a0001c0002t0001 a0001c0005t0004 a0001c0005t0021 a0001c0006t0001 a0001c0006t0007 a0001c0010t0002 a0001c0027t0004	a0001c0002t0001g0117 a0001c0005t0004g0284 a0001c0005t0004g0287 others(7): Show a0001c0002t0001g0117 a0001c0005t0004g0284 a0001c0005t0004g0287 a0001c0005t0021g0285 a0001c0005t0021g0286 a0001c0006t0001g0178 a0001c0006t0001g0179 a0001c0006t0007g0134 a0001c0010t0002g0279 a0001c0027t0004g0067	10	374	0.0267	22	c.92- others(37): Show c.92-7213_92-7212insTTGTGTGTGTGTGTGTGTGTGT	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr21	TogoVar
DIP2A_chr21_46453891_46575015	46495240	T T	TTCTCTTC others(15): Show TTCTCTTCTTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0003 a0001c0026t0003	a0001c0026t0003g0347 a0001c0026t0003g0347	1	374	0.0027	22	c.284 others(39): Show c.284-1745_284-1744insCTTCTTCTCTCTCTCTCTCTCT	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	3/37		INFO_REALIGN_3_PRIME	chr21	TogoVar
DIP2A_chr21_46453891_46575015	46495244	T T	TTCTCTCT others(15): Show TTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01243.hp2 NA18970.hp1 HG01106.hp1 HG01243.hp2 NA18970.hp1	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0003 a0001c0007t0005 a0001c0003t0003 a0001c0007t0005	a0001c0003t0003g0356 a0001c0007t0005g0128 a0001c0007t0005g0159 a0001c0003t0003g0356 a0001c0007t0005g0128 a0001c0007t0005g0159	3	374	0.0080	22	c.284 others(39): Show c.284-1730_284-1709dupCTCTCTCTCTCTCTCTCTCTCT	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	3/37		INFO_REALIGN_3_PRIME	chr21	TogoVar
DIP2B_chr12_50499985_50753657	50501219	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG01106.hp2 others(34): Show HG00438.hp2 HG00544.hp2 HG01106.hp2 HG01123.hp1 HG01256.hp2 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG02055.hp2 HG02056.hp1 HG02300.hp2 HG02615.hp2 HG02683.hp2 HG02897.hp1 HG02965.hp2 HG03098.hp1 HG03491.hp2 HG03492.hp2 HG03669.hp1 HG03831.hp1 HG03927.hp1 HG04204.hp1 NA18944.hp1 NA18947.hp2 NA18969.hp2 NA18971.hp2 NA18979.hp2 NA18990.hp2 NA18994.hp2 NA19002.hp2 NA19064.hp1 NA19086.hp2 NA19240.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0008 others(1): Show a0001 a0005 a0008 a0010	a0001c0002 a0001c0010 a0001c0013 others(4): Show a0001c0002 a0001c0010 a0001c0013 a0001c0015 a0005c0016 a0008c0014 a0010c0012	a0001c0002t0003 a0001c0002t0004 a0001c0002t0018 others(7): Show a0001c0002t0003 a0001c0002t0004 a0001c0002t0018 a0001c0002t0041 a0001c0010t0004 a0001c0013t0003 a0001c0015t0004 a0005c0016t0004 a0008c0014t0004 a0010c0012t0003	a0001c0002t0003g0187 a0001c0002t0003g0201 a0001c0002t0003g0205 others(34): Show a0001c0002t0003g0187 a0001c0002t0003g0201 a0001c0002t0003g0205 a0001c0002t0003g0218 a0001c0002t0003g0221 a0001c0002t0003g0223 a0001c0002t0003g0224 a0001c0002t0003g0233 a0001c0002t0003g0239 a0001c0002t0003g0240 a0001c0002t0003g0242 a0001c0002t0003g0245 a0001c0002t0003g0246 a0001c0002t0003g0248 a0001c0002t0003g0252 a0001c0002t0003g0257 a0001c0002t0003g0265 a0001c0002t0003g0273 a0001c0002t0004g0186 a0001c0002t0004g0200 a0001c0002t0004g0208 a0001c0002t0004g0210 a0001c0002t0004g0214 a0001c0002t0004g0236 a0001c0002t0004g0237 a0001c0002t0004g0250 a0001c0002t0004g0251 a0001c0002t0018g0227 a0001c0002t0018g0262 a0001c0002t0041g0244 a0001c0010t0004g0196 a0001c0010t0004g0197 a0001c0013t0003g0204 a0001c0015t0004g0180 a0005c0016t0004g0215 a0008c0014t0004g0225 a0010c0012t0003g0198	37	284	0.1303	22	c.-39 others(33): Show c.-3922_-3921insAAAAAAAAAAAAAAAAAAAAAA	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding		3765		chr12	TogoVar
DIP2B_chr12_50499985_50753657	50516213	A A	ATCTCTCT others(15): Show ATCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0001 a0001c0001t0036g0001	1	284	0.0035	22	c.100 others(41): Show c.100+10985_100+11006dupCTCTCTCTCTCTCTCTCTCTCT	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50537114	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02809.hp2 HG02129.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0036 a0001c0001t0001 a0001c0001t0036	a0001c0001t0001g0130 a0001c0001t0036g0001 a0001c0001t0001g0130 a0001c0001t0036g0001	2	284	0.0070	22	c.100 others(41): Show c.100+31880_100+31901dupTTTTTTTTTTTTTTTTTTTTTT	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50592987	C C	CCTTGTCA others(15): Show CCTTGTCATATTTAAATATGACA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02922.hp1 NA18906.hp2 others(1): Show HG02258.hp2 HG02922.hp1 NA18906.hp2 NA19043.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0009	a0001c0006t0009g0192 a0001c0006t0009g0193 a0001c0006t0009g0194 others(1): Show a0001c0006t0009g0192 a0001c0006t0009g0193 a0001c0006t0009g0194 a0001c0006t0009g0195	4	284	0.0141	22	c.101 others(41): Show c.101-32989_101-32988insCTTGTCATATTTAAATATGACA	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37			chr12	TogoVar
DIP2B_chr12_50499985_50753657	50593715	C C	CCTCTCCT others(15): Show CCTCTCCTCTCCTCTCCTCTCCT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0071 a0001c0003t0002g0071	1	284	0.0035	22	c.101 others(41): Show c.101-32257_101-32236dupTCCTCTCCTCTCCTCTCCTCTC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50716958	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03041.hp1 HG02698.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0044 a0001c0001t0001 a0001c0001t0044	a0001c0001t0001g0167 a0001c0001t0044g0270 a0001c0001t0001g0167 a0001c0001t0044g0270	2	284	0.0070	22	c.285 others(41): Show c.2852-1749_2852-1728dupTTTTTTTTTTTTTTTTTTTTTT	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	23/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	337049	G G	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01934.hp1 HG02040.hp2 others(2): Show HG00609.hp1 HG01934.hp1 HG02040.hp2 HG02155.hp2 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0011 a0001c0002 a0001c0011	a0001c0002t0001 a0001c0002t0003 a0001c0011t0003 a0001c0002t0001 a0001c0002t0003 a0001c0011t0003	a0001c0002t0001g0031 a0001c0002t0001g0056 a0001c0002t0003g0029 others(2): Show a0001c0002t0001g0031 a0001c0002t0001g0056 a0001c0002t0003g0029 a0001c0002t0003g0043 a0001c0011t0003g0088	5	88	0.0568	22	c.358 others(41): Show c.3584+4128_3584+4149dupACACACACACACACACACACAC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	29/36			chr10	TogoVar
DIP2C_chr10_269201_694668	414737	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0032 a0001c0003t0002g0032	1	88	0.0114	22	c.860 others(37): Show c.860-628_860-627insTATATATATATATATATATATA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	7/36			chr10	TogoVar
DIP2C_chr10_269201_694668	414739	G G	GTGTATAT others(15): Show GTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0007 a0001c0009t0001g0007	1	88	0.0114	22	c.860 others(37): Show c.860-630_860-629insTATATATATATATATATATACA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	7/36			chr10	TogoVar
DIP2C_chr10_269201_694668	414739	G G	GTGTGTAT others(15): Show GTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0037 a0001c0003t0002g0037	1	88	0.0114	22	c.860 others(37): Show c.860-630_860-629insTATATATATATATATATACACA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	7/36			chr10	TogoVar
DIP2C_chr10_269201_694668	429298	C C	CCCGGACC others(15): Show CCCGGACCCTGGCTGCCTCCCCT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	88	0.0114	22	c.395 others(39): Show c.395-6266_395-6265insAGGGGAGGCAGCCAGGGTCCGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	4/36			chr10	TogoVar
DIP2C_chr10_269201_694668	429427	C C	CCCCCCCC others(15): Show CCCCCCCCGGACCCTGGCTGCCT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	88	0.0114	22	c.395 others(39): Show c.395-6395_395-6394insAGGCAGCCAGGGTCCGGGGGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	4/36			chr10	TogoVar
DIP2C_chr10_269201_694668	477461	A A	AGGCAGGG others(15): Show AGGCAGGGGGAGGAAGGTGGATG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0082 a0001c0002t0003g0082	1	88	0.0114	22	c.158 others(39): Show c.158-4913_158-4912insCATCCACCTTCCTCCCCCTGCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DIP2C_chr10_269201_694668	514447	G G	GGAATTTA others(15): Show GGAATTTACACTGCAACCCTGCA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	88	0.0114	22	c.86- others(39): Show c.86-27939_86-27918dupTGCAGGGTTGCAGTGTAAATTC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	524967	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01952.hp2 HG02004.hp2 others(5): Show HG01258.hp1 HG01952.hp2 HG02004.hp2 HG02027.hp1 HG02071.hp1 HG02165.hp2 HG03942.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0008 a0001c0001 a0001c0005 a0001c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0005t0002 a0001c0008t0001	a0001c0001t0001g0028 a0001c0001t0003g0012 a0001c0001t0005g0024 others(5): Show a0001c0001t0001g0028 a0001c0001t0003g0012 a0001c0001t0005g0024 a0001c0001t0010g0020 a0001c0005t0002g0017 a0001c0005t0002g0087 a0001c0008t0001g0018 a0001c0008t0001g0019	8	88	0.0909	22	c.86- others(39): Show c.86-38438_86-38437insTTTTTTTTTTTTTTTTTTTTTT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	565354	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0010 a0001c0005t0002g0010	1	88	0.0114	22	c.86- others(39): Show c.86-78825_86-78824insTTTTTTTTTTTTTTTTTTTTTT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	608584	C C	CCACACAC others(15): Show CCACACACACACATCCCCCCCCA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0003 a0001c0022t0003	a0001c0022t0003g0002 a0001c0022t0003g0002	1	88	0.0114	22	c.85+ others(39): Show c.85+80909_85+80910insTGGGGGGGGATGTGTGTGTGTG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	674789	T T	TATATATA others(15): Show TATATATATATATATATATAGAG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0078 a0001c0004t0003g0078	1	88	0.0114	22	c.85+ others(39): Show c.85+14704_85+14705insCTCTATATATATATATATATAT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	674789	T T	TATATATA others(15): Show TATATATATATATATATATATAG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0080 a0001c0002t0001g0080	1	88	0.0114	22	c.85+ others(39): Show c.85+14704_85+14705insCTATATATATATATATATATAT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIPK1A_chr1_92837167_92966462	92959902	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01167.hp1 HG01169.hp2 HG00140.hp2 HG01167.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0007	3	200	0.0150	22	c.54+ others(37): Show c.54+1473_54+1474insAAAAAAAAAAAAAAAAAAAAAA	DIPK1A	ENSG00000154511.12	transcript	ENST00000370310.5	protein_coding	1/4			chr1	TogoVar
DIPK2A_chr3_143966823_143997368	143967802	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp2 NA19077.hp2 NA18968.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0170 a0001c0002t0002g0202 a0001c0001t0002g0170 a0001c0002t0002g0202	2	408	0.0049	22	c.-45 others(33): Show c.-4531_-4530insTTTTTTTTTTTTTTTTTTTTTT	DIPK2A	ENSG00000181744.9	transcript	ENST00000315691.8	protein_coding		4020		chr3	TogoVar
DIPK2A_chr3_143966823_143997368	143976584	G G	GAGAGAGA others(15): Show GAGAGAGAGAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 NA20905.hp1 HG01070.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0255 a0001c0001t0007g0256 a0001c0001t0007g0255 a0001c0001t0007g0256	2	408	0.0049	22	c.657 others(39): Show c.657+3596_657+3597insGAGAGAGAGAGAGAGAGAGAAA	DIPK2A	ENSG00000181744.9	transcript	ENST00000315691.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
DIRAS3_chr1_68040962_68055627	68048049	A A	AAAAAAAA others(15): Show AAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	376	0.0027	22	c.-65 others(37): Show c.-65-688_-65-687insATATATATATATATATTTTTTT	DIRAS3	ENSG00000162595.8	transcript	ENST00000646789.1	protein_coding	1/1			chr1	TogoVar

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