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.

⚠️ 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
CAPN12_chr19_38725192_38749474	38728410	G G	GCTCCTCC others(8): Show GCTCCTCCTCCTCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 NA18995.hp1 NA19063.hp2 HG01099.hp2 NA18995.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0103 a0001c0001t0001g0118 a0001c0001t0001g0122	3	342	0.0088	15	c.24 others(26): Show c.2427_*2441dupGAGGAGGAGGAGGAG	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding		1781		chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735678	G G	GGGGTTCT others(8): Show GGGGTTCTCGCGGGGC	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0142 a0001c0001t0016g0142	1	342	0.0029	15	c.158 others(32): Show c.1584-135_1584-134insGCCCCGCGAGAACCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735687	G G	GGGGGCGG others(8): Show GGGGGCGGGGCGGGGC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01074.hp2 HG01109.hp1 others(6): Show HG00639.hp1 HG01074.hp2 HG01109.hp1 HG01169.hp2 HG02451.hp1 HG02723.hp2 HG02976.hp2 NA18947.hp1 NA18982.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0004 a0005c0007 a0001c0001 a0002c0004 a0005c0007	a0001c0001t0006 a0002c0004t0001 a0005c0007t0003 a0001c0001t0006 a0002c0004t0001 a0005c0007t0003	a0001c0001t0006g0253 a0002c0004t0001g0048 a0002c0004t0001g0056 others(6): Show a0001c0001t0006g0253 a0002c0004t0001g0048 a0002c0004t0001g0056 a0002c0004t0001g0057 a0002c0004t0001g0072 a0002c0004t0001g0074 a0002c0004t0001g0075 a0005c0007t0003g0265 a0005c0007t0003g0269	9	342	0.0263	15	c.158 others(32): Show c.1584-144_1584-143insGCCCCGCCCCGCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735767	G G	GCGGGCGG others(8): Show GCGGGCGGGGCGGGGC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0299 a0001c0001t0005g0299	1	342	0.0029	15	c.158 others(32): Show c.1584-224_1584-223insGCCCCGCCCCGCCCG	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735772	C C	CAGGGCGG others(8): Show CAGGGCGGGGGTTCTG	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp2 HG03491.hp1 HG01515.hp2 HG01517.hp2 HG03491.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0021 a0003c0005t0004g0037 a0003c0005t0004g0040 a0003c0005t0004g0021 a0003c0005t0004g0037 a0003c0005t0004g0040	3	342	0.0088	15	c.158 others(32): Show c.1584-229_1584-228insCAGAACCCCCGCCCT	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735772	C C	CGGGGCGG others(8): Show CGGGGCGGGGGTTCTG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01081.hp1 HG01106.hp2 others(1): Show HG00735.hp2 HG01081.hp1 HG01106.hp2 HG03490.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0018 a0002c0004t0001 a0002c0004t0018	a0002c0004t0001g0061 a0002c0004t0001g0067 a0002c0004t0001g0071 others(1): Show a0002c0004t0001g0061 a0002c0004t0001g0067 a0002c0004t0001g0071 a0002c0004t0018g0065	4	342	0.0117	15	c.158 others(32): Show c.1584-229_1584-228insCAGAACCCCCGCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735797	C C	CAGGGCGG others(8): Show CAGGGCGGGGGTTCTG	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0033 a0003c0005t0004g0033	1	342	0.0029	15	c.158 others(32): Show c.1584-254_1584-253insCAGAACCCCCGCCCT	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735797	C C	CGGGGCGG others(8): Show CGGGGCGGGGGTTCTG	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02896.hp2 HG02897.hp1 others(1): Show HG01975.hp2 HG02896.hp2 HG02897.hp1 HG03453.hp1	a0003 a0006 a0003 a0006	a0003c0005 a0006c0009 a0003c0005 a0006c0009	a0003c0005t0004 a0006c0009t0003 a0003c0005t0004 a0006c0009t0003	a0003c0005t0004g0023 a0006c0009t0003g0009 a0003c0005t0004g0023 a0006c0009t0003g0009	4	342	0.0117	15	c.158 others(32): Show c.1584-254_1584-253insCAGAACCCCCGCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735798	G G	GGGGCGGG others(8): Show GGGGCGGGGGTTCTGC	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG03491.hp1 HG02004.hp1 HG03491.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0018 a0003c0005t0004g0037 a0003c0005t0004g0018 a0003c0005t0004g0037	2	342	0.0059	15	c.158 others(32): Show c.1584-255_1584-254insGCAGAACCCCCGCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735837	G G	GGGGGCGG others(8): Show GGGGGCGGGGCGGGGC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0176 a0001c0003t0001g0176	1	342	0.0029	15	c.158 others(32): Show c.1583+258_1583+272dupGCCCCGCCCCGCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735843	G G	GGGGCGGT others(8): Show GGGGCGGTGGTTCTGC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02647.hp1 HG00423.hp1 HG02647.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0083 a0002c0004t0001g0066 a0001c0001t0001g0083 a0002c0004t0001g0066	2	342	0.0059	15	c.158 others(32): Show c.1583+266_1583+267insGCAGAACCACCGCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735847	C C	CGGGGCGG others(8): Show CGGGGCGGGGGTTCTG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03492.hp1 HG01891.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0128 a0001c0001t0001g0050 a0001c0001t0001g0128	2	342	0.0059	15	c.158 others(32): Show c.1583+262_1583+263insCAGAACCCCCGCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735848	G G	GGGGCGGT others(8): Show GGGGCGGTGGTTCTGC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0250 a0001c0001t0020g0250	1	342	0.0029	15	c.158 others(32): Show c.1583+261_1583+262insGCAGAACCACCGCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735877	C C	CGGGGCGG others(8): Show CGGGGCGGGGGTTCTG	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	342	0.0029	15	c.158 others(32): Show c.1583+232_1583+233insCAGAACCCCCGCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735883	G G	GGGGCGGT others(8): Show GGGGCGGTGGTTCTGC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03471.hp1 NA18964.hp2 others(1): Show HG03130.hp1 HG03471.hp1 NA18964.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0091 a0001c0001t0001g0238 others(1): Show a0001c0001t0001g0079 a0001c0001t0001g0091 a0001c0001t0001g0238 a0001c0001t0001g0239	4	342	0.0117	15	c.158 others(32): Show c.1583+226_1583+227insGCAGAACCACCGCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735912	C C	CGGGGCGG others(8): Show CGGGGCGGGGGTTCTG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG03688.hp2 HG00642.hp2 HG03688.hp2	a0004 a0014 a0004 a0014	a0004c0008 a0014c0031 a0004c0008 a0014c0031	a0004c0008t0005 a0014c0031t0007 a0004c0008t0005 a0014c0031t0007	a0004c0008t0005g0288 a0014c0031t0007g0301 a0004c0008t0005g0288 a0014c0031t0007g0301	2	342	0.0059	15	c.158 others(32): Show c.1583+197_1583+198insCAGAACCCCCGCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735955	G G	GGCGGGGC others(8): Show GGCGGGGCGGGGCGGT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02300.hp1 HG02602.hp1 others(4): Show HG01106.hp2 HG02300.hp1 HG02602.hp1 HG03041.hp1 HG03927.hp2 HG03942.hp2 NA20805.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0018 a0002c0004t0001 a0002c0004t0018	a0002c0004t0001g0054 a0002c0004t0001g0055 a0002c0004t0001g0058 others(4): Show a0002c0004t0001g0054 a0002c0004t0001g0055 a0002c0004t0001g0058 a0002c0004t0001g0068 a0002c0004t0001g0069 a0002c0004t0001g0070 a0002c0004t0018g0065	7	342	0.0205	15	c.158 others(32): Show c.1583+154_1583+155insACCGCCCCGCCCCGC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735962	G G	GCGGGCGG others(8): Show GCGGGCGGGGCGGGGC	intron_variant intron_variant	MODIFIER	HG02300.hp1 NA20805.hp2 HG02300.hp1 NA20805.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0054 a0002c0004t0001g0055 a0002c0004t0001g0054 a0002c0004t0001g0055	2	342	0.0059	15	c.158 others(32): Show c.1583+147_1583+148insGCCCCGCCCCGCCCG	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735962	G G	GGGGGCGG others(8): Show GGGGGCGGGGCGGGGC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01074.hp1 HG01952.hp1 others(8): Show HG00558.hp1 HG01074.hp1 HG01952.hp1 HG01981.hp2 HG02630.hp1 HG02809.hp2 NA18982.hp2 NA18986.hp2 NA19068.hp1 NA19070.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0001 a0001c0001t0010 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0005c0007t0003	a0001c0001t0001g0013 a0001c0001t0001g0085 a0001c0001t0010g0276 others(7): Show a0001c0001t0001g0013 a0001c0001t0001g0085 a0001c0001t0010g0276 a0001c0001t0011g0043 a0001c0001t0012g0042 a0005c0007t0003g0267 a0005c0007t0003g0269 a0005c0007t0003g0270 a0005c0007t0003g0271 a0005c0007t0003g0272	11	342	0.0322	15	c.158 others(32): Show c.1583+133_1583+147dupGCCCCGCCCCGCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735968	G G	GGGGCGGT others(8): Show GGGGCGGTGGTTCTGC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0076 a0002c0004t0001g0076	1	342	0.0029	15	c.158 others(32): Show c.1583+141_1583+142insGCAGAACCACCGCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735972	C C	CGGGGCGG others(8): Show CGGGGCGGGGGTTCTG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02055.hp2 HG01081.hp1 HG02055.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0005 a0002c0004t0001 a0001c0001t0005 a0002c0004t0001	a0001c0001t0005g0299 a0002c0004t0001g0071 a0001c0001t0005g0299 a0002c0004t0001g0071	2	342	0.0059	15	c.158 others(32): Show c.1583+137_1583+138insCAGAACCCCCGCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38736578	A A	AGCAAGGG others(8): Show AGCAAGGGGCGTCGGG	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0157 a0001c0002t0002g0157	1	342	0.0029	15	c.136 others(30): Show c.1363-30_1363-16dupCCCGACGCCCCTTGC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	10/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38742850	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA18941.hp1 HG02015.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0305 a0001c0001t0005g0306 a0001c0001t0005g0305 a0001c0001t0005g0306	2	342	0.0059	15	c.307 others(30): Show c.307+168_307+182dupTTTTTTTTTTTTTTT	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	2/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38749044	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 NA18986.hp2 NA19000.hp2 HG01952.hp1 NA18986.hp2 NA19000.hp2	a0005 a0025 a0005 a0025	a0005c0007 a0025c0017 a0005c0007 a0025c0017	a0005c0007t0003 a0025c0017t0003 a0005c0007t0003 a0025c0017t0003	a0005c0007t0003g0271 a0005c0007t0003g0272 a0025c0017t0003g0274 a0005c0007t0003g0271 a0005c0007t0003g0272 a0025c0017t0003g0274	3	342	0.0088	15	c.-48 others(26): Show c.-4880_-4879insTTTTTTTTTTTTTTT	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding		4571		chr19	TogoVar
CAPN13_chr2_30717771_30812446	30800116	A A	AAAGAAAG others(8): Show AAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA18971.hp1 HG03041.hp1 NA18971.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0004 a0001c0002 a0003c0004	a0001c0002t0005 a0003c0004t0002 a0001c0002t0005 a0003c0004t0002	a0001c0002t0005g0346 a0003c0004t0002g0065 a0001c0002t0005g0346 a0003c0004t0002g0065	2	384	0.0052	15	c.-33 others(32): Show c.-33+7185_-33+7186insCTTTCTTTCTTTCTT	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	1/22			chr2	TogoVar
CAPN13_chr2_30717771_30812446	30805747	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp2 NA19090.hp2 NA20805.hp1 HG02738.hp2 NA19090.hp2 NA20805.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0005c0006t0001 a0001c0001t0001 a0005c0006t0001	a0001c0001t0001g0247 a0005c0006t0001g0265 a0005c0006t0001g0266 a0001c0001t0001g0247 a0005c0006t0001g0265 a0005c0006t0001g0266	3	384	0.0078	15	c.-33 others(32): Show c.-33+1554_-33+1555insAAAAAAAAAAAAAAA	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	1/22			chr2	TogoVar
CAPN14_chr2_31168056_31222515	31210460	C C	CATAAAAT others(8): Show CATAAAATAAAATAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01070.hp2 HG01358.hp2 others(22): Show HG00735.hp2 HG01070.hp2 HG01358.hp2 HG01361.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01993.hp2 HG02055.hp1 HG02273.hp1 HG02293.hp2 HG02486.hp1 HG02738.hp1 HG02738.hp2 HG02886.hp2 HG02922.hp1 HG03516.hp1 HG03579.hp2 HG03704.hp1 NA18991.hp2 NA19081.hp1 NA19086.hp2 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0005 a0006 a0007 a0009 a0014 a0015 a0016 a0021	a0001c0001 a0001c0003 a0002c0002 others(10): Show a0001c0001 a0001c0003 a0002c0002 a0003c0005 a0003c0025 a0005c0013 a0006c0007 a0007c0009 a0009c0010 a0014c0023 a0015c0024 a0016c0026 a0021c0030	a0001c0001t0004 a0001c0001t0019 a0001c0003t0003 others(13): Show a0001c0001t0004 a0001c0001t0019 a0001c0003t0003 a0001c0003t0004 a0002c0002t0020 a0003c0005t0001 a0003c0025t0001 a0005c0013t0006 a0006c0007t0008 a0007c0009t0006 a0009c0010t0011 a0014c0023t0006 a0015c0024t0004 a0016c0026t0020 a0016c0026t0031 a0021c0030t0001	a0001c0001t0004g0284 a0001c0001t0004g0286 a0001c0001t0019g0279 others(22): Show a0001c0001t0004g0284 a0001c0001t0004g0286 a0001c0001t0019g0279 a0001c0001t0019g0280 a0001c0003t0003g0287 a0001c0003t0004g0285 a0002c0002t0020g0296 a0003c0005t0001g0140 a0003c0005t0001g0141 a0003c0025t0001g0164 a0005c0013t0006g0132 a0005c0013t0006g0133 a0006c0007t0008g0265 a0006c0007t0008g0266 a0006c0007t0008g0267 a0006c0007t0008g0277 a0007c0009t0006g0153 a0007c0009t0006g0154 a0009c0010t0011g0299 a0014c0023t0006g0268 a0014c0023t0006g0269 a0015c0024t0004g0270 a0016c0026t0020g0298 a0016c0026t0031g0297 a0021c0030t0001g0271	25	326	0.0767	15	c.-52 others(32): Show c.-52-4976_-52-4962dupTTTATTTTATTTTAT	CAPN14	ENSG00000214711.10	transcript	ENST00000403897.4	protein_coding	1/21			chr2	TogoVar
CAPN15_chr16_522712_559636	536705	T T	TGAGCCTT others(8): Show TGAGCCTTACAGGCGG	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0396 a0001c0001t0002g0396	1	410	0.0024	15	c.-23 others(30): Show c.-23+568_-23+569insTTACAGGCGGGAGCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN2_chr1_223707539_223781018	223741435	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02622.hp2 HG02615.hp1 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0006 a0001c0002t0001 a0001c0002t0006	a0001c0002t0001g0339 a0001c0002t0006g0076 a0001c0002t0001g0339 a0001c0002t0006g0076	2	378	0.0053	15	c.308 others(32): Show c.308-2665_308-2664insTATATATATATATAT	CAPN2	ENSG00000162909.18	transcript	ENST00000295006.6	protein_coding	2/20			chr1	TogoVar
CAPN2_chr1_223707539_223781018	223746475	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02886.hp1 HG02258.hp1 HG02886.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0003 a0005c0009t0001 a0005c0009t0003	a0005c0009t0001g0018 a0005c0009t0003g0331 a0005c0009t0001g0018 a0005c0009t0003g0331	2	378	0.0053	15	c.561 others(30): Show c.561-515_561-501dupTTTTTTTTTTTTTTT	CAPN2	ENSG00000162909.18	transcript	ENST00000295006.6	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN5_chr11_77061971_77131155	77093583	A A	AGTCTGTG others(8): Show AGTCTGTGTCTGTCAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02451.hp2 HG03209.hp1 HG02145.hp2 HG02451.hp2 HG03209.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0021 a0003c0004t0021	a0003c0004t0021g0009 a0003c0004t0021g0235 a0003c0004t0021g0009 a0003c0004t0021g0235	3	382	0.0079	15	c.166 others(28): Show c.166-84_166-70dupCGTCTGTGTCTGTCA	CAPN5	ENSG00000149260.18	transcript	ENST00000648180.1	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
CAPN6_chrX_111240099_111275483	111270389	C C	CCTGCTGC others(8): Show CCTGCTGCTGCTGCTG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02818.hp1 HG02897.hp2 HG02818.hp1 HG02897.hp2	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0021 a0002c0005t0022 a0002c0002t0021 a0002c0005t0022	a0002c0002t0021g0049 a0002c0005t0022g0048 a0002c0002t0021g0049 a0002c0005t0022g0048	2	242	0.0083	15	c.-49 others(22): Show c.-49_-35dupCAGCAGCAGCAGCAG	CAPN6	ENSG00000077274.9	transcript	ENST00000324068.2	protein_coding	1/13	6454		chrX	TogoVar
CAPN7_chr3_15201246_15257916	15210596	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03209.hp1 HG03453.hp2 others(3): Show HG03098.hp1 HG03209.hp1 HG03453.hp2 HG03540.hp2 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0006 a0001c0001t0004g0044 a0001c0001t0004g0045 a0001c0001t0004g0006 a0001c0001t0004g0044 a0001c0001t0004g0045	6	376	0.0160	15	c.103 others(32): Show c.103-1505_103-1491dupTTTTTTTTTTTTTTT	CAPN7	ENSG00000131375.10	transcript	ENST00000253693.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
CAPSL_chr5_35899288_35943622	35919170	A A	AAAAAAAT others(8): Show AAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	402	0.0025	15	c.137 others(32): Show c.137+1813_137+1814insATATATATATTTTTT	CAPSL	ENSG00000152611.12	transcript	ENST00000651391.1	protein_coding	2/4			chr5	TogoVar
CAPZA2_chr7_116857587_116927049	116880696	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02683.hp2 HG03098.hp1 others(3): Show HG02602.hp2 HG02683.hp2 HG03098.hp1 HG03130.hp2 HG03927.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0026 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0026 a0001c0001t0039	a0001c0001t0001g0258 a0001c0001t0001g0289 a0001c0001t0002g0155 others(3): Show a0001c0001t0001g0258 a0001c0001t0001g0289 a0001c0001t0002g0155 a0001c0001t0002g0345 a0001c0001t0026g0167 a0001c0001t0039g0185	6	354	0.0170	15	c.40- others(30): Show c.40-7407_40-7393dupTTTTTTTTTTTTTTT	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAPZA2_chr7_116857587_116927049	116904969	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02293.hp2 HG00673.hp2 HG02293.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0302 a0001c0002t0004g0327 a0001c0002t0004g0302 a0001c0002t0004g0327	2	354	0.0057	15	c.426 others(30): Show c.426+592_426+606dupAAAAAAAAAAAAAAA	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAPZA3_chr12_18733119_18744188	18743656	G G	GTTTGTTT others(8): Show GTTTGTTTTGTTTTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	392	0.0026	15	c.44 others(26): Show c.4488_*4489insTTTGTTTTGTTTTGT	CAPZA3	ENSG00000177938.5	transcript	ENST00000317658.5	protein_coding		4469		chr12	TogoVar
CAPZB_chr1_19333775_19490539	19333899	C C	CAAACAAA others(8): Show CAAACAAAACAAAACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01175.hp1 HG01978.hp1 others(7): Show HG01070.hp2 HG01175.hp1 HG01978.hp1 HG02615.hp2 HG02965.hp1 HG03017.hp2 HG03453.hp1 HG03516.hp2 HG03704.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0022 others(7): Show a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0100 a0001c0001t0001g0131 a0001c0001t0001g0144 a0001c0001t0001g0177 a0001c0001t0001g0259 a0001c0001t0001g0293 a0001c0001t0001g0309	10	364	0.0275	15	c.56 others(26): Show c.5630_*5631insTGTTTTGTTTTGTTT	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding		4875		chr1	TogoVar
CAPZB_chr1_19333775_19490539	19333935	A A	AAACAAAA others(8): Show AAACAAAACAAAACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02109.hp1 HG02572.hp1 others(4): Show HG01884.hp2 HG02109.hp1 HG02572.hp1 HG02717.hp2 HG03098.hp2 HG03471.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0090 a0001c0001t0001g0194 others(4): Show a0001c0001t0001g0004 a0001c0001t0001g0090 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0201 a0001c0001t0001g0243	7	364	0.0192	15	c.55 others(26): Show c.5594_*5595insGTGTTTTGTTTTGTT	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding		4839		chr1	TogoVar
CAPZB_chr1_19333775_19490539	19422729	A A	AAACAACA others(8): Show AAACAACAACAACAAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03491.hp2 HG03492.hp1 HG02258.hp1 HG03491.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0305 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0305	3	364	0.0082	15	c.4-2 others(28): Show c.4-2994_4-2980dupGTTGTTGTTGTTGTT	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	1/8			chr1	TogoVar
CARD11_chr7_2901142_3048867	2909474	C C	TCCCTCCG others(8): Show TCCCTCCGCCCCTCAC	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	322	0.0031	15	c.326 others(32): Show c.3260+576_3260+577insTGAGGGGCGGAGGGA	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	24/24			chr7	TogoVar
CARD11_chr7_2901142_3048867	2910718	A A	ACACACAC others(8): Show ACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0007 a0007	a0007c0038 a0007c0038	a0007c0038t0001 a0007c0038t0001	a0007c0038t0001g0056 a0007c0038t0001g0056	1	322	0.0031	15	c.314 others(32): Show c.3145-554_3145-553insGTGTGTGTGTGTGTG	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	23/24			chr7	TogoVar
CARD11_chr7_2901142_3048867	2910743	A A	ACACACAC others(8): Show ACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	322	0.0031	15	c.314 others(32): Show c.3145-579_3145-578insGTGTGTGTGTGTGTG	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	23/24			chr7	TogoVar
CARD11_chr7_2901142_3048867	2941539	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0001 a0001c0037t0001	a0001c0037t0001g0271 a0001c0037t0001g0271	1	322	0.0031	15	c.685 others(32): Show c.685-1626_685-1612dupTTTTTTTTTTTTTTT	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	5/24			chr7	TogoVar
CARD11_chr7_2901142_3048867	3022935	A A	ATATTTAT others(8): Show ATATTTATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0018 a0018	a0018c0045 a0018c0045	a0018c0045t0001 a0018c0045t0001	a0018c0045t0001g0320 a0018c0045t0001g0320	1	322	0.0031	15	c.-12 others(36): Show c.-126+20731_-126+20732insATATATATATAAATA	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	1/24			chr7	TogoVar
CARD14_chr17_80165030_80214331	80165033	C C	CATTTTAT others(8): Show CATTTTATTTTATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00558.hp1 others(88): Show HG00323.hp1 HG00408.hp2 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01975.hp1 HG01993.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02074.hp1 HG02080.hp1 HG02165.hp1 HG02258.hp2 HG02486.hp1 HG02572.hp1 HG02615.hp2 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02895.hp1 HG02897.hp2 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03490.hp2 HG03491.hp2 HG03654.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG04199.hp1 HG04199.hp2 NA18612.hp1 NA18747.hp1 NA18948.hp1 NA18949.hp1 NA18956.hp1 NA18957.hp2 NA18960.hp1 NA18968.hp1 NA18970.hp2 NA18973.hp2 NA18975.hp1 NA18978.hp2 NA18983.hp2 NA18984.hp1 NA18989.hp2 NA18991.hp1 NA18993.hp1 NA18999.hp2 NA19001.hp2 NA19003.hp2 NA19012.hp2 NA19084.hp1 NA19084.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20805.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0012 a0014 a0018 a0019 a0026 a0029	a0001c0001 a0001c0007 a0001c0012 others(26): Show a0001c0001 a0001c0007 a0001c0012 a0001c0024 a0001c0027 a0001c0051 a0002c0002 a0002c0005 a0002c0017 a0003c0006 a0003c0013 a0004c0003 a0004c0008 a0004c0031 a0004c0052 a0004c0053 a0005c0004 a0005c0014 a0006c0009 a0006c0015 a0007c0011 a0007c0050 a0008c0018 a0012c0034 a0014c0033 a0018c0042 a0019c0043 a0026c0047 a0029c0041	a0001c0001t0002 a0001c0001t0009 a0001c0007t0002 others(31): Show a0001c0001t0002 a0001c0001t0009 a0001c0007t0002 a0001c0007t0004 a0001c0012t0001 a0001c0024t0011 a0001c0027t0002 a0001c0051t0001 a0002c0002t0001 a0002c0005t0001 a0002c0017t0001 a0003c0006t0001 a0003c0006t0002 a0003c0006t0026 a0003c0013t0002 a0004c0003t0001 a0004c0003t0010 a0004c0008t0001 a0004c0031t0007 a0004c0052t0001 a0004c0053t0001 a0005c0004t0001 a0005c0014t0002 a0006c0009t0001 a0006c0015t0001 a0007c0011t0003 a0007c0050t0003 a0008c0018t0001 a0012c0034t0001 a0014c0033t0001 a0018c0042t0002 a0019c0043t0001 a0026c0047t0001 a0029c0041t0001	a0001c0001t0002g0019 a0001c0001t0002g0254 a0001c0001t0002g0261 others(87): Show a0001c0001t0002g0019 a0001c0001t0002g0254 a0001c0001t0002g0261 a0001c0001t0002g0264 a0001c0001t0002g0271 a0001c0001t0002g0281 a0001c0001t0002g0292 a0001c0001t0002g0321 a0001c0001t0002g0323 a0001c0001t0002g0339 a0001c0001t0002g0346 a0001c0001t0002g0356 a0001c0001t0002g0358 a0001c0001t0002g0359 a0001c0001t0009g0090 a0001c0001t0009g0092 a0001c0001t0009g0093 a0001c0007t0002g0007 a0001c0007t0002g0293 a0001c0007t0002g0316 a0001c0007t0002g0325 a0001c0007t0002g0329 a0001c0007t0002g0331 a0001c0007t0002g0337 a0001c0007t0002g0340 a0001c0007t0004g0338 a0001c0012t0001g0279 a0001c0012t0001g0344 a0001c0024t0011g0361 a0001c0027t0002g0089 a0001c0027t0002g0091 a0001c0051t0001g0351 a0002c0002t0001g0258 a0002c0002t0001g0317 a0002c0005t0001g0257 a0002c0005t0001g0318 a0002c0005t0001g0334 a0002c0017t0001g0016 a0003c0006t0001g0295 a0003c0006t0002g0035 a0003c0006t0026g0369 a0003c0013t0002g0017 a0003c0013t0002g0304 a0003c0013t0002g0313 a0003c0013t0002g0314 a0003c0013t0002g0319 a0003c0013t0002g0324 a0004c0003t0001g0272 a0004c0003t0001g0283 a0004c0003t0001g0354 a0004c0003t0010g0269 a0004c0008t0001g0294 a0004c0008t0001g0306 a0004c0008t0001g0315 a0004c0008t0001g0328 a0004c0008t0001g0333 a0004c0008t0001g0341 a0004c0008t0001g0349 a0004c0008t0001g0353 a0004c0031t0007g0045 a0004c0052t0001g0352 a0004c0053t0001g0168 a0005c0004t0001g0255 a0005c0004t0001g0265 a0005c0004t0001g0266 a0005c0004t0001g0267 a0005c0004t0001g0268 a0005c0004t0001g0273 a0005c0004t0001g0280 a0005c0004t0001g0312 a0005c0004t0001g0327 a0005c0004t0001g0335 a0005c0004t0001g0348 a0005c0014t0002g0345 a0006c0009t0001g0274 a0006c0009t0001g0347 a0006c0015t0001g0336 a0007c0011t0003g0365 a0007c0011t0003g0366 a0007c0050t0003g0355 a0008c0018t0001g0290 a0008c0018t0001g0291 a0012c0034t0001g0260 a0012c0034t0001g0270 a0014c0033t0001g0262 a0014c0033t0001g0282 a0018c0042t0002g0309 a0019c0043t0001g0305 a0026c0047t0001g0332 a0029c0041t0001g0350	91	376	0.2420	15	c.-57 others(26): Show c.-5713_-5712insATTTTATTTTATTTT	CARD14	ENSG00000141527.19	transcript	ENST00000648509.2	protein_coding		4996		chr17	TogoVar
CARD14_chr17_80165030_80214331	80165054	A A	ATTTTATT others(8): Show ATTTTATTTTATTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02809.hp1 HG03453.hp2 HG02258.hp1 HG02809.hp1 HG03453.hp2	a0004 a0005 a0022 a0004 a0005 a0022	a0004c0003 a0005c0004 a0022c0060 a0004c0003 a0005c0004 a0022c0060	a0004c0003t0001 a0005c0004t0001 a0022c0060t0002 a0004c0003t0001 a0005c0004t0001 a0022c0060t0002	a0004c0003t0001g0263 a0005c0004t0001g0259 a0022c0060t0002g0278 a0004c0003t0001g0263 a0005c0004t0001g0259 a0022c0060t0002g0278	3	376	0.0080	15	c.-56 others(26): Show c.-5692_-5691insTTTTATTTTATTTTG	CARD14	ENSG00000141527.19	transcript	ENST00000648509.2	protein_coding		4975		chr17	TogoVar
CARD14_chr17_80165030_80214331	80170765	C C	CTCCCCTC others(8): Show CTCCCCTCCCCTCCCG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00408.hp2 others(102): Show HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01934.hp1 HG01975.hp1 HG01978.hp1 HG01993.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02145.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02572.hp1 HG02615.hp1 HG02630.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02895.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03453.hp1 HG03453.hp2 HG03490.hp2 HG03491.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG04199.hp1 HG04199.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18948.hp1 NA18949.hp1 NA18952.hp1 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18968.hp1 NA18970.hp2 NA18973.hp2 NA18975.hp1 NA18978.hp2 NA18983.hp2 NA18984.hp1 NA18989.hp2 NA18991.hp1 NA18993.hp1 NA18999.hp2 NA19001.hp2 NA19003.hp2 NA19012.hp2 NA19043.hp1 NA19060.hp1 NA19084.hp1 NA19084.hp2 NA19091.hp2 NA20129.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0012 a0014 a0017 a0018 a0019 a0021 a0022 a0023 a0026 a0029	a0001c0001 a0001c0007 a0001c0012 others(28): Show a0001c0001 a0001c0007 a0001c0012 a0001c0051 a0001c0069 a0002c0002 a0002c0005 a0003c0006 a0003c0010 a0003c0013 a0004c0003 a0004c0008 a0004c0052 a0005c0004 a0005c0014 a0005c0048 a0006c0009 a0006c0015 a0007c0011 a0007c0022 a0008c0018 a0012c0034 a0014c0033 a0017c0068 a0018c0042 a0019c0043 a0021c0065 a0022c0060 a0023c0049 a0026c0047 a0029c0041	a0001c0001t0002 a0001c0007t0002 a0001c0007t0004 others(31): Show a0001c0001t0002 a0001c0007t0002 a0001c0007t0004 a0001c0012t0001 a0001c0051t0001 a0001c0069t0002 a0002c0002t0001 a0002c0005t0001 a0003c0006t0001 a0003c0006t0008 a0003c0010t0013 a0003c0013t0002 a0004c0003t0001 a0004c0003t0010 a0004c0008t0001 a0004c0052t0001 a0005c0004t0001 a0005c0014t0002 a0005c0048t0001 a0006c0009t0001 a0006c0015t0001 a0007c0011t0003 a0007c0022t0021 a0008c0018t0001 a0012c0034t0001 a0014c0033t0001 a0017c0068t0008 a0018c0042t0002 a0019c0043t0001 a0021c0065t0022 a0022c0060t0002 a0023c0049t0004 a0026c0047t0001 a0029c0041t0001	a0001c0001t0002g0254 a0001c0001t0002g0261 a0001c0001t0002g0264 others(100): Show a0001c0001t0002g0254 a0001c0001t0002g0261 a0001c0001t0002g0264 a0001c0001t0002g0271 a0001c0001t0002g0281 a0001c0001t0002g0292 a0001c0001t0002g0321 a0001c0001t0002g0323 a0001c0001t0002g0339 a0001c0001t0002g0346 a0001c0007t0002g0007 a0001c0007t0002g0293 a0001c0007t0002g0316 a0001c0007t0002g0325 a0001c0007t0002g0329 a0001c0007t0002g0330 a0001c0007t0002g0331 a0001c0007t0002g0337 a0001c0007t0002g0340 a0001c0007t0004g0338 a0001c0012t0001g0256 a0001c0012t0001g0279 a0001c0012t0001g0344 a0001c0051t0001g0351 a0001c0069t0002g0326 a0002c0002t0001g0258 a0002c0002t0001g0317 a0002c0002t0001g0322 a0002c0005t0001g0257 a0002c0005t0001g0318 a0002c0005t0001g0334 a0003c0006t0001g0295 a0003c0006t0008g0296 a0003c0006t0008g0298 a0003c0006t0008g0299 a0003c0006t0008g0320 a0003c0010t0013g0301 a0003c0010t0013g0302 a0003c0013t0002g0303 a0003c0013t0002g0304 a0003c0013t0002g0313 a0003c0013t0002g0314 a0003c0013t0002g0319 a0003c0013t0002g0324 a0004c0003t0001g0263 a0004c0003t0001g0272 a0004c0003t0001g0283 a0004c0003t0001g0354 a0004c0003t0010g0269 a0004c0008t0001g0294 a0004c0008t0001g0297 a0004c0008t0001g0306 a0004c0008t0001g0307 a0004c0008t0001g0308 a0004c0008t0001g0315 a0004c0008t0001g0328 a0004c0008t0001g0333 a0004c0008t0001g0341 a0004c0008t0001g0349 a0004c0008t0001g0353 a0004c0052t0001g0352 a0005c0004t0001g0255 a0005c0004t0001g0259 a0005c0004t0001g0265 a0005c0004t0001g0266 a0005c0004t0001g0267 a0005c0004t0001g0268 a0005c0004t0001g0273 a0005c0004t0001g0276 a0005c0004t0001g0277 a0005c0004t0001g0280 a0005c0004t0001g0312 a0005c0004t0001g0327 a0005c0004t0001g0335 a0005c0004t0001g0343 a0005c0004t0001g0348 a0005c0014t0002g0345 a0005c0048t0001g0342 a0006c0009t0001g0274 a0006c0009t0001g0275 a0006c0009t0001g0347 a0006c0015t0001g0336 a0007c0011t0003g0006 a0007c0011t0003g0284 a0007c0011t0003g0285 a0007c0011t0003g0286 a0007c0011t0003g0287 a0007c0011t0003g0289 a0007c0022t0021g0310 a0008c0018t0001g0290 a0008c0018t0001g0291 a0012c0034t0001g0260 a0012c0034t0001g0270 a0014c0033t0001g0262 a0014c0033t0001g0282 a0017c0068t0008g0300 a0018c0042t0002g0309 a0019c0043t0001g0305 a0021c0065t0022g0311 a0022c0060t0002g0278 a0023c0049t0004g0288 a0026c0047t0001g0332 a0029c0041t0001g0350	105	376	0.2793	15	c.-69 others(32): Show c.-690+738_-690+752dupCGTCCCCTCCCCTCC	CARD14	ENSG00000141527.19	transcript	ENST00000648509.2	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
CARD14_chr17_80165030_80214331	80172872	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp2 HG01346.hp2 HG02630.hp1 others(1): Show HG00323.hp2 HG01346.hp2 HG02630.hp1 HG02970.hp2	a0003 a0005 a0007 a0003 a0005 a0007	a0003c0006 a0005c0048 a0007c0022 a0003c0006 a0005c0048 a0007c0022	a0003c0006t0008 a0005c0048t0001 a0007c0022t0021 a0003c0006t0008 a0005c0048t0001 a0007c0022t0021	a0003c0006t0008g0296 a0003c0006t0008g0298 a0005c0048t0001g0342 others(1): Show a0003c0006t0008g0296 a0003c0006t0008g0298 a0005c0048t0001g0342 a0007c0022t0021g0310	4	376	0.0106	15	c.-68 others(29): Show c.-689-22_-689-8dupTTTTTTTTTTTTTTT	CARD14	ENSG00000141527.19	transcript	ENST00000648509.2	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
CARD19_chr9_93091217_93118283	93116911	A A	ACAGAGGC others(8): Show ACAGAGGCTGCAGCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	358	0.0028	15	c.38 others(26): Show c.3804_*3805insCAGAGGCTGCAGCTG	CARD19	ENSG00000165233.18	transcript	ENST00000375464.7	protein_coding		3629		chr9	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)