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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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
C1orf100_chr1_244347635_244394663	244373330	A A	AATTTTTA others(28): Show AATTTTTATATATATATATATATATATTATATATAT	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	452	0.0022	35	c.57- others(50): Show c.57-2039_57-2038insTTTATATATATATATATATATATTATATAT ATATT	C1orf100	ENSG00000173728.11	transcript	ENST00000308105.5	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
C1orf105_chr1_172415685_172473829	172469593	C C	CAAATAAA others(28): Show CAAATAAAATAAAATAAAATAAAATAAAATAAAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 NA18906.hp2 HG02965.hp2 NA18906.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0007 a0002c0002 a0004c0007	a0002c0002t0001 a0004c0007t0004 a0002c0002t0001 a0004c0007t0004	a0002c0002t0001g0078 a0004c0007t0004g0086 a0002c0002t0001g0078 a0004c0007t0004g0086	2	320	0.0063	35	c.99 others(45): Show c.999_*1000insAAATAAAATAAAATAAAATAAAATAAAATAAAATA	C1orf105	ENSG00000180999.11	transcript	ENST00000367727.9	protein_coding		765		chr1	TogoVar
C1orf167_chr1_11757193_11794585	11772904	A A	ATTATTAT others(28): Show ATTATTATTATTATTATTATTATTATTATTATTATT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0276	1	350	0.0029	35	c.198 others(52): Show c.1988+656_1988+657insATTATTATTATTATTATTATTATTTTAT TATTATT	C1orf167	ENSG00000215910.8	transcript	ENST00000688073.1	protein_coding	8/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
C21orf58_chr21_46296130_46328870	46296557	T T	TGCGGTTG others(28): Show TGCGGTTGAGTAGGCCGTCCGAGACTGAGTGCGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0280 a0001c0001t0002g0280	1	378	0.0027	35	c.54 others(46): Show c.5441_*5442insCTCCGCACTCAGTCTCGGACGGCCTACTCAACCG C	C21orf58	ENSG00000160298.18	transcript	ENST00000291691.12	protein_coding		4572		chr21	TogoVar
C21orf58_chr21_46296130_46328870	46298434	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01167.hp2 NA18943.hp1 others(1): Show HG00639.hp1 HG01167.hp2 NA18943.hp1 NA19009.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0006c0008 a0002c0002 a0006c0008	a0002c0002t0001 a0006c0008t0001 a0002c0002t0001 a0006c0008t0001	a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0203 others(1): Show a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0203 a0006c0008t0001g0179	4	378	0.0106	35	c.35 others(46): Show c.3564_*3565insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	C21orf58	ENSG00000160298.18	transcript	ENST00000291691.12	protein_coding		2695		chr21	TogoVar
C22orf42_chr22_32144006_32164303	32146007	T T	TAATATAT others(28): Show TAATATATATTAGATAATAATTAGATAATATATAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0019 a0002c0002t0002g0019	1	398	0.0025	35	c.35 others(46): Show c.3532_*3533insCTTATATATTATCTAATTATTATCTAATATATAT T	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		2998		chr22	TogoVar
C22orf42_chr22_32144006_32164303	32146008	A A	AATATATA others(28): Show AATATATATTAGATAATATATTAGATAATATATAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	398	0.0025	35	c.35 others(46): Show c.3531_*3532insCTTATATATTATCTAATATATTATCTAATATATA T	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		2997		chr22	TogoVar
C2CD4C_chr19_400445_414147	404026	G G	GGTCTGAG others(28): Show GGTCTGAGGGGGGGACGGGGTCCTGCCCTGAGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02922.hp1 NA18943.hp1 others(1): Show HG02083.hp1 HG02922.hp1 NA18943.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0039 a0001c0002t0002 a0001c0002t0019 a0001c0001t0039 a0001c0002t0002 a0001c0002t0019	a0001c0001t0039g0102 a0001c0002t0002g0003 a0001c0002t0019g0026 a0001c0001t0039g0102 a0001c0002t0002g0003 a0001c0002t0019g0026	4	322	0.0124	35	c.30 others(46): Show c.3069_*3070insACCCCTCAGGGCAGGACCCCGTCCCCCCCTCAGA C	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1418		chr19	TogoVar
C2CD4C_chr19_400445_414147	404030	T T	TGGGGGGG others(28): Show TGGGGGGGGGACGGGGTCCTGCCCCGAGGGGTGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 NA20300.hp1 HG03579.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0033 a0001c0001t0014 a0001c0001t0033	a0001c0001t0014g0009 a0001c0001t0033g0040 a0001c0001t0014g0009 a0001c0001t0033g0040	2	322	0.0062	35	c.30 others(46): Show c.3065_*3066insTCACACCCCTCGGGGCAGGACCCCGTCCCCCCCC C	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1414		chr19	TogoVar
C2CD4C_chr19_400445_414147	404061	T T	TGGGGGGC others(28): Show TGGGGGGCGGACGGGGTCCTGCCCTGAGGGGTGTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0140 a0001c0001t0140	a0001c0001t0140g0113 a0001c0001t0140g0113	1	322	0.0031	35	c.30 others(46): Show c.3034_*3035insCCACACCCCTCAGGGCAGGACCCCGTCCGCCCCC C	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1383		chr19	TogoVar
C2CD4C_chr19_400445_414147	404156	T T	TGGGGGGG others(28): Show TGGGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0129 a0001c0001t0129	a0001c0001t0129g0104 a0001c0001t0129g0104	1	322	0.0031	35	c.29 others(46): Show c.2939_*2940insCCACACCCCTCAGGGCAGGACCCCGTCCCCCCCC C	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1288		chr19	TogoVar
C2CD4C_chr19_400445_414147	404613	C C	CGGGGTCC others(28): Show CGGGGTCCTGCCCCGAGGGGTGTGAGGGGGGGGACG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0011 a0001c0001t0009g0011	1	322	0.0031	35	c.24 others(46): Show c.2482_*2483insCGTCCCCCCCCTCACACCCCTCGGGGCAGGACCC C	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		831		chr19	TogoVar
C2CD4C_chr19_400445_414147	404930	G G	GGAGGGGG others(28): Show GGAGGGGGGATGGGGTCCTGCCCTGAGGGGTGTGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0025 a0001c0002t0012g0025	1	322	0.0031	35	c.21 others(46): Show c.2165_*2166insTCCACACCCCTCAGGGCAGGACCCCATCCCCCCT C	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		514		chr19	TogoVar
C2CD4C_chr19_400445_414147	404960	T T	TGAGGGGG others(28): Show TGAGGGGGGGGACGGGGTCCTGCCCCGAGGGGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02280.hp1 HG02622.hp1 others(1): Show HG02257.hp2 HG02280.hp1 HG02622.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0004 a0001c0004t0004 a0001c0001t0004 a0001c0004t0004	a0001c0001t0004g0013 a0001c0004t0004g0004 a0001c0001t0004g0013 a0001c0004t0004g0004	4	322	0.0124	35	c.21 others(46): Show c.2135_*2136insCACACCCCTCGGGGCAGGACCCCGTCCCCCCCCT C	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		484		chr19	TogoVar
C2orf68_chr2_85600254_85617066	85614979	A A	AGTGTGGT others(28): Show AGTGTGGTGTGGTGTGGTGTGGTGTGGTGTGGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	376	0.0027	35	c.-30 others(46): Show c.-3030_-2996dupCACACCACACCACACCACACCACACCACACCACA C	C2orf68	ENSG00000168887.11	transcript	ENST00000306336.6	protein_coding		2914		chr2	TogoVar
C3orf70_chr3_185071838_185158060	185079280	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0106 a0002c0002t0106	a0002c0002t0106g0216 a0002c0002t0106g0216	1	388	0.0026	35	c.37 others(46): Show c.3726_*3727insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	C3orf70	ENSG00000187068.3	transcript	ENST00000335012.3	protein_coding	2/2	3726		chr3	TogoVar
C4orf19_chr4_37448925_37598510	37596736	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0148 a0001c0001t0003g0148	1	354	0.0028	35	c.57 others(46): Show c.5736_*5737insTATATATATATATATATATATATATATATTTTTT T	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding		3227		chr4	TogoVar
C4orf47_chr4_185421254_185454826	185443342	A A	ATATATAT others(28): Show ATATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	358	0.0028	35	c.715 others(52): Show c.715-1621_715-1620insATATATATATATATATATATATTTTTTT TTTTTTT	C4orf47	ENSG00000205129.9	transcript	ENST00000378850.5	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf47_chr4_185421254_185454826	185443342	A A	ATATATAT others(28): Show ATATATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA19000.hp1 NA18998.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0233 a0001c0001t0001g0105 a0001c0001t0001g0233	2	358	0.0056	35	c.715 others(52): Show c.715-1621_715-1620insATATATATATATATATATTTTTTTTTTT TTTTTTT	C4orf47	ENSG00000205129.9	transcript	ENST00000378850.5	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf47_chr4_185421254_185454826	185443342	A A	ATATATAT others(28): Show ATATATATATATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	358	0.0028	35	c.715 others(52): Show c.715-1621_715-1620insATATATATATATATATTTTTTTTTTTTT TTTTTTT	C4orf47	ENSG00000205129.9	transcript	ENST00000378850.5	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
C5orf46_chr5_147887722_147911538	147911208	G G	GTCTATTC others(28): Show GTCTATTCTATTCTATTCTATTCTATTCTATTCTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	452	0.0022	35	c.-47 others(46): Show c.-4708_-4707insATAGAATAGAATAGAATAGAATAGAATAGAATAG A	C5orf46	ENSG00000178776.5	transcript	ENST00000318315.5	protein_coding		4671		chr5	TogoVar
C7orf50_chr7_992006_1143247	1041123	T T	TCTCTCTC others(28): Show TCTCTCTCTTTTCCTCCTCCTCCGTTGTTGTTGTTG	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	326	0.0031	35	c.130 others(54): Show c.130-30981_130-30980insCAACAACAACAACGGAGGAGGAGGAA AAGAGAGAG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1136240	T T	TATATATA others(28): Show TATATATAAATATATATAAACATATAAATATATAAA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02083.hp1 HG02132.hp1 others(23): Show HG01934.hp1 HG02083.hp1 HG02132.hp1 HG02300.hp2 HG03927.hp2 NA18612.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18962.hp1 NA18963.hp1 NA18971.hp1 NA18972.hp1 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18998.hp2 NA18999.hp1 NA19005.hp2 NA19007.hp2 NA19055.hp1 NA19056.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0027 a0001c0001t0028 a0001c0001t0004 a0001c0001t0027 a0001c0001t0028	a0001c0001t0004g0176 a0001c0001t0004g0177 a0001c0001t0004g0178 others(23): Show a0001c0001t0004g0176 a0001c0001t0004g0177 a0001c0001t0004g0178 a0001c0001t0004g0179 a0001c0001t0004g0180 a0001c0001t0004g0181 a0001c0001t0004g0182 a0001c0001t0004g0183 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 a0001c0001t0004g0190 a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0004g0194 a0001c0001t0004g0195 a0001c0001t0004g0196 a0001c0001t0004g0197 a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0001t0004g0200 a0001c0001t0027g0193 a0001c0001t0028g0201	26	326	0.0798	35	c.-2+ others(50): Show c.-2+1074_-2+1075insTTTATATATTTATATGTTTATATATATTTA TATAT	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1136391	T T	TATAAATA others(28): Show TATAAATATATATAAACATATATAATATATATAAAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02055.hp2 HG00099.hp1 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0307 a0001c0001t0005g0306 a0001c0001t0003g0307 a0001c0001t0005g0306	2	326	0.0061	35	c.-2+ others(48): Show c.-2+923_-2+924insGTTTATATATATTATATATGTTTATATATATT TAT	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C7orf57_chr7_48030543_48066297	48051806	C C	CTTTCCTT others(28): Show CTTTCCTTCCTTCCTTCCTTCCTTTTCTCTTCTCTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0053 a0002c0001t0002g0053	1	404	0.0025	35	c.606 others(50): Show c.606-894_606-893insTTTCCTTCCTTCCTTCCTTCCTTTTCTCTT CTCTT	C7orf57	ENSG00000164746.14	transcript	ENST00000348904.4	protein_coding	6/8			chr7	TogoVar
C8orf34_chr8_68325955_68824023	68376184	C C	CATAAAAT others(28): Show CATAAAATAAAATAAAATAAAATAAAATAAAATAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02717.hp2 HG03453.hp1 HG02258.hp2 HG02717.hp2 HG03453.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0004 a0003c0006t0001 a0003c0006t0004 a0001c0001t0004 a0003c0006t0001 a0003c0006t0004	a0001c0001t0004g0111 a0003c0006t0001g0122 a0003c0006t0004g0124 a0001c0001t0004g0111 a0003c0006t0001g0122 a0003c0006t0004g0124	3	128	0.0234	35	c.327 others(54): Show c.327+44876_327+44877insTAAAATAAAATAAAATAAAATAAAAT AAAATAAAA	C8orf34	ENSG00000165084.16	transcript	ENST00000518698.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
C8orf34_chr8_68325955_68824023	68794506	T T	TATATATA others(28): Show TATATATATATATATATATATATATATATATATACA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0100 a0002c0004t0001g0100	1	128	0.0078	35	c.154 others(54): Show c.1549+6970_1549+6971insATATATATATATATATATATATATAT ATATATACA	C8orf34	ENSG00000165084.16	transcript	ENST00000518698.6	protein_coding	12/13			chr8	TogoVar
C9orf152_chr9_110194561_110213159	110209892	A A	AAAGAGAA others(28): Show AAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG01255.hp1 HG02155.hp1 others(15): Show HG00544.hp1 HG01255.hp1 HG02155.hp1 HG02258.hp1 HG02451.hp1 HG02698.hp1 HG03239.hp1 HG03927.hp1 HG04115.hp1 NA18941.hp1 NA18945.hp2 NA18956.hp1 NA18984.hp2 NA18993.hp1 NA19004.hp2 NA19009.hp1 NA19082.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0012 a0001c0001t0033 a0001c0001t0038 a0001c0001t0040 a0001c0003t0013	a0001c0001t0001g0001 a0001c0001t0001g0042 a0001c0001t0001g0077 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0042 a0001c0001t0001g0077 a0001c0001t0002g0100 a0001c0001t0003g0005 a0001c0001t0003g0050 a0001c0001t0003g0079 a0001c0001t0008g0009 a0001c0001t0008g0081 a0001c0001t0012g0018 a0001c0001t0033g0078 a0001c0001t0038g0101 a0001c0001t0040g0103 a0001c0003t0013g0084	18	466	0.0386	35	c.-23 others(46): Show c.-2314_-2313insCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCT T	C9orf152	ENSG00000188959.10	transcript	ENST00000400613.5	protein_coding		1734		chr9	TogoVar
CA12_chr15_63316378_63386846	63376599	T T	TTTCTTTC others(28): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	356	0.0028	35	c.86- others(48): Show c.86-922_86-921insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAA	CA12	ENSG00000074410.14	transcript	ENST00000178638.8	protein_coding	1/10			chr15	TogoVar
CA5A_chr16_87883013_87941529	87917737	A A	ACACACAT others(28): Show ACACACATGCACACATGTATACACAGTGCACATGTG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	400	0.0025	35	c.340 others(52): Show c.340+8976_340+9010dupCACATGTGCACTGTGTATACATGTGTGC ATGTGTG	CA5A	ENSG00000174990.8	transcript	ENST00000649794.3	protein_coding	2/6			chr16	TogoVar
CA6_chr1_8940868_8980092	8955032	G G	GGCCGGCA others(28): Show GGCCGGCACTGATCCATTAATATATATTGCCCAGGT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0322 a0001c0002t0002g0322	1	452	0.0022	35	c.260 others(52): Show c.260-2065_260-2031dupGCACTGATCCATTAATATATATTGCCCA GGTGCCG	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAB39L_chr13_49303650_49449064	49441222	T T	TATATATA others(28): Show TATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0053 a0001c0002t0001g0053	1	324	0.0031	35	c.-24 others(54): Show c.-246+2763_-246+2764insTATATATATATATATATATATATATA TATATATAT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	1/10			chr13	TogoVar
CAB39_chr2_230707842_230826075	230782813	C C	CTTTCTTT others(28): Show CTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0018 a0001c0001t0009g0018	1	342	0.0029	35	c.115 others(52): Show c.115-8056_115-8055insCTTTCTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CABP5_chr19_48024383_48049079	48028497	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0011 a0003c0004t0011	a0003c0004t0011g0201 a0003c0004t0011g0201	1	376	0.0027	35	c.20 others(46): Show c.2059_*2060insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding		885		chr19	TogoVar
CACFD1_chr9_133454978_133475848	133460465	G G	GGGGGGCG others(28): Show GGGGGGCGGCGGGGGCGGCGGGGGCGGGGGGGCGGC	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0037 a0001c0001t0009g0037	1	420	0.0024	35	c.121 others(50): Show c.121+295_121+296insCGGGGGCGGGGGGGCGGCGGGGGCGGCGGG GGCGG	CACFD1	ENSG00000160325.15	transcript	ENST00000316948.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1A_chr19_13201442_13511479	13310485	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0049 a0004c0007t0001g0049	1	218	0.0046	35	c.166 others(54): Show c.1669-1958_1669-1957insATATATATATATATATATATATATAT ATATATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	12/46			chr19	TogoVar
CACNA1H_chr16_1148106_1226768	1178032	A A	ACCCCATG others(28): Show ACCCCATGGTCCCTCCCCCACCCCGGAACCCCCCCC	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0007 a0008c0009t0007	a0008c0009t0007g0163 a0008c0009t0007g0163	1	338	0.0030	35	c.300 others(54): Show c.300-16936_300-16902dupCATGGTCCCTCCCCCACCCCGGAACC CCCCCCCCC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA2D1_chr7_81941444_82448777	82137707	T T	TAAAAAAA others(28): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0065 a0001c0001t0009g0065	1	144	0.0069	35	c.355 others(52): Show c.355-1032_355-1031insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	4/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82297072	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0139 a0001c0001t0005g0139	1	144	0.0069	35	c.294 others(54): Show c.294+38062_294+38063insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82307482	C C	CTATATAA others(28): Show CTATATAATTTATAAATTTATAATTCTTAAAATAAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02818.hp2 HG01884.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0068 a0001c0001t0002g0097 a0001c0001t0001g0068 a0001c0001t0002g0097	2	144	0.0139	35	c.294 others(54): Show c.294+27618_294+27652dupATTATTTTAAGAATTATAAATTTATA AATTATATA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNB2_chr10_18135424_18548557	18181562	T T	TTTTTATT others(28): Show TTTTTATTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG03491.hp2 HG03492.hp2 HG01361.hp1 HG03491.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0018 a0001c0002t0026 a0001c0001t0018 a0001c0002t0026	a0001c0001t0018g0011 a0001c0001t0018g0014 a0001c0002t0026g0015 a0001c0001t0018g0011 a0001c0001t0018g0014 a0001c0002t0026g0015	3	200	0.0150	35	c.213 others(54): Show c.213+30622_213+30656dupATTTTATTTTATTTTATTTTATTTTA TTTTATTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB4_chr2_151827771_152104044	152074603	T T	TCTCCACC others(28): Show TCTCCACCATCACCATCACCCCCTCACCATTACCAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01256.hp2 HG01258.hp2 others(9): Show HG01109.hp2 HG01256.hp2 HG01258.hp2 HG02135.hp1 HG02698.hp1 HG03927.hp1 NA18950.hp1 NA18964.hp1 NA18971.hp2 NA18974.hp1 NA18977.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0017 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0130 others(9): Show a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0002g0156 a0001c0001t0007g0120 a0001c0001t0017g0097 a0001c0001t0017g0196 a0001c0002t0002g0002 a0001c0002t0002g0184 a0001c0002t0002g0185 a0001c0002t0003g0137	12	230	0.0522	35	c.147 others(54): Show c.147+23692_147+23726dupGTGGTAATGGTGAGGGGGTGATGGTG ATGGTGGAG	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	2/13			chr2	TogoVar
CACNB4_chr2_151827771_152104044	152074644	T T	TCATCACC others(28): Show TCATCACCATCACCCCCTCACCATTACCACCTCCAC	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0012 a0001c0001t0009g0012	1	230	0.0044	35	c.147 others(54): Show c.147+23685_147+23686insGTGGAGGTGGTAATGGTGAGGGGGTG ATGGTGATG	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	2/13			chr2	TogoVar
CACNB4_chr2_151827771_152104044	152074679	T T	TCATCACC others(28): Show TCATCACCATCACCCCCTCACCATTACCACCTCCAC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02683.hp1 HG01257.hp2 HG02683.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0100 a0001c0003t0008g0101 a0001c0003t0008g0100 a0001c0003t0008g0101	2	230	0.0087	35	c.147 others(54): Show c.147+23650_147+23651insGTGGAGGTGGTAATGGTGAGGGGGTG ATGGTGATG	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	2/13			chr2	TogoVar
CACNB4_chr2_151827771_152104044	152074714	T T	TCATCACC others(28): Show TCATCACCATCACCCCCTCACCATTACCACCTCCAC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01175.hp1 HG01358.hp1 others(1): Show HG01123.hp2 HG01175.hp1 HG01358.hp1 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0001t0009 a0001c0002t0002 a0001c0001t0007 a0001c0001t0009 a0001c0002t0002	a0001c0001t0007g0015 a0001c0001t0009g0013 a0001c0001t0009g0017 others(1): Show a0001c0001t0007g0015 a0001c0001t0009g0013 a0001c0001t0009g0017 a0001c0002t0002g0221	4	230	0.0174	35	c.147 others(54): Show c.147+23615_147+23616insGTGGAGGTGGTAATGGTGAGGGGGTG ATGGTGATG	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	2/13			chr2	TogoVar
CACNG1_chr17_67039554_67061797	67054107	G G	GGTCTGTG others(28): Show GGTCTGTGTTGATGCGACCAAGGAAGCAAATGAAGA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0005 a0005c0008t0005	a0005c0008t0005g0062 a0005c0008t0005g0062	1	428	0.0023	35	c.304 others(48): Show c.304+38_304+39insTCTGTGTTGATGCGACCAAGGAAGCAAATGAA GAG	CACNG1	ENSG00000108878.5	transcript	ENST00000226021.5	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
CACNG2_chr22_36555857_36708752	36703763	C C	CGCTCTCT others(28): Show CGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0162 a0001c0001t0006g0162	1	214	0.0047	35	c.-11 others(46): Show c.-1188_-1187insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG C	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding		12		chr22	TogoVar
CACNG2_chr22_36555857_36708752	36703783	C C	CTCTCTCT others(28): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0189 a0001c0001t0013g0189	1	214	0.0047	35	c.-12 others(46): Show c.-1208_-1207insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG A	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding		32		chr22	TogoVar
CACNG6_chr19_53986637_54017666	53990569	C C	CCCCAGCA others(28): Show CCCCAGCACCTCCTCCTTCAGACACAGGAGTTCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02965.hp1 HG03516.hp2 HG02451.hp1 HG02965.hp1 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0161 a0001c0003t0007g0162 a0001c0003t0007g0163 a0001c0003t0007g0161 a0001c0003t0007g0162 a0001c0003t0007g0163	3	430	0.0070	35	c.-23 others(46): Show c.-2309_-2308insCCCAGCACCTCCTCCTTCAGACACAGGAGTTCAG G	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding		1067		chr19	TogoVar
CACNG6_chr19_53986637_54017666	54011205	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0284 a0001c0002t0019g0284	1	430	0.0023	35	c.545 others(50): Show c.545-745_545-744insAAAAAAAAAAAAAAAAATATATATATATAT ATATA	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar

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