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
CACNG6_chr19_53986637_54017666	54011205	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0253 a0001c0001t0004g0253	1	430	0.0023	35	c.545 others(50): Show c.545-745_545-744insAAAAAAAAAAAAAAATATATATATATATAT ATATA	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG6_chr19_53986637_54017666	54011205	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02630.hp2 HG03225.hp1 HG01257.hp1 HG02630.hp2 HG03225.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0012 a0001c0002t0001 a0003c0005t0004 a0001c0001t0012 a0001c0002t0001 a0003c0005t0004	a0001c0001t0012g0221 a0001c0002t0001g0272 a0003c0005t0004g0178 a0001c0001t0012g0221 a0001c0002t0001g0272 a0003c0005t0004g0178	3	430	0.0070	35	c.545 others(50): Show c.545-745_545-744insAAAAAAAAAAAAATATATATATATATATAT ATATA	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG6_chr19_53986637_54017666	54011205	A A	AAAAAAAT others(28): Show AAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0386 a0001c0001t0001g0386	1	430	0.0023	35	c.545 others(50): Show c.545-745_545-744insAAAAATATATATATATATATATATATATAT ATATA	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG8_chr19_53957937_53995215	53990569	C C	CCCCAGCA others(28): Show CCCCAGCACCTCCTCCTTCAGACACAGGAGTTCAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02965.hp1 HG03516.hp2 HG02451.hp1 HG02965.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0015 a0001c0001t0031 a0001c0001t0010 a0001c0001t0015 a0001c0001t0031	a0001c0001t0010g0085 a0001c0001t0015g0084 a0001c0001t0031g0086 a0001c0001t0010g0085 a0001c0001t0015g0084 a0001c0001t0031g0086	3	394	0.0076	35	c.77 others(46): Show c.7720_*7721insCCCAGCACCTCCTCCTTCAGACACAGGAGTTCAG G	CACNG8	ENSG00000142408.7	transcript	ENST00000270458.4	protein_coding		355		chr19	TogoVar
CADM2_chr3_84953989_86079429	85359666	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0068 a0001c0001t0003g0068	1	146	0.0069	35	c.62- others(54): Show c.62-366855_62-366854insATATATATATATATATATATATATAT ATTTTTTTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85637611	A A	AAAAATAA others(28): Show AAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0097 a0001c0001t0020g0097	1	146	0.0069	35	c.62- others(52): Show c.62-88907_62-88906insTAAAATAAAATAAAATAAAATAAAATAA AATAAAA	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADPS2_chr7_122313411_122891460	122315296	T T	TCTCTCTC others(28): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0015 a0001c0004t0002g0015	1	126	0.0079	35	c.48 others(46): Show c.4868_*4869insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA G	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding		3114		chr7	TogoVar
CADPS2_chr7_122313411_122891460	122315298	T T	TCTCTCTC others(28): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0103 a0001c0002t0004g0103	1	126	0.0079	35	c.48 others(46): Show c.4866_*4867insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA G	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding		3112		chr7	TogoVar
CADPS2_chr7_122313411_122891460	122399660	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0111 a0001c0004t0001g0111	1	126	0.0079	35	c.274 others(54): Show c.2747-6113_2747-6079dupAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	20/29			chr7	TogoVar
CAGE1_chr6_7321659_7394742	7351530	A A	AAAAATAA others(28): Show AAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02486.hp1 HG02965.hp2 HG02280.hp1 HG02486.hp1 HG02965.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0003 a0004c0005t0003	a0004c0005t0003g0237 a0004c0005t0003g0238 a0004c0005t0003g0240 a0004c0005t0003g0237 a0004c0005t0003g0238 a0004c0005t0003g0240	3	360	0.0083	35	c.236 others(54): Show c.2369+3510_2369+3511insATTTTATTTTATTTTATTTTATTTTA TTTTATTTT	CAGE1	ENSG00000164304.16	transcript	ENST00000502583.6	protein_coding	11/13			chr6	TogoVar
CALCOCO2_chr17_48826035_48870245	48854396	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0203 a0002c0002t0001g0203	1	328	0.0031	35	c.912 others(52): Show c.912+1385_912+1386insATATATATATATATATATATATATTTTT TTTTTTT	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
CALCOCO2_chr17_48826035_48870245	48858046	A A	AAATAGAA others(28): Show AAATAGAATAGAATAGAATAGAATAGAATAGAATAG	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02257.hp1 HG02572.hp2 others(7): Show HG02148.hp2 HG02257.hp1 HG02572.hp2 HG02896.hp2 HG02897.hp1 HG03139.hp2 HG03195.hp2 NA18971.hp2 NA19058.hp1 NA19067.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0002 a0001c0001t0006 a0003c0006t0015 a0001c0001t0002 a0001c0001t0006 a0003c0006t0015	a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0006 others(7): Show a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0266 a0001c0001t0002g0302 a0001c0001t0002g0312 a0001c0001t0006g0003 a0001c0001t0006g0008 a0001c0001t0006g0311 a0003c0006t0015g0010	10	328	0.0305	35	c.100 others(54): Show c.1008+1887_1008+1888insAGAATAGAATAGAATAGAATAGAATA GAATAGAAT	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
CALM2_chr2_47155084_47181511	47167814	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	432	0.0023	35	c.34+ others(50): Show c.34+2919_34+2920insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	CALM2	ENSG00000143933.20	transcript	ENST00000272298.12	protein_coding	2/5			chr2	TogoVar
CALML4_chr15_68185705_68210332	68199945	G G	GTTGTTTG others(28): Show GTTGTTTGTCTGAAATTCTAATTTAACTGGGTGTCC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	386	0.0026	35	c.35- others(48): Show c.35-299_35-265dupGGACACCCAGTTAAATTAGAATTTCAGACAAA CAA	CALML4	ENSG00000129007.16	transcript	ENST00000467889.3	protein_coding	2/4			chr15	TogoVar
CALN1_chr7_71774491_72417338	71923027	T T	TCTATACT others(28): Show TCTATACTATACTATACTATACTATACTATTCTATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA19043.hp1 HG01109.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0041 a0001c0001t0022 a0001c0001t0041	a0001c0001t0022g0001 a0001c0001t0041g0069 a0001c0001t0022g0001 a0001c0001t0041g0069	2	142	0.0141	35	c.501 others(56): Show c.501+100629_501+100630insTATAGAATAGTATAGTATAGTATA GTATAGTATAG	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	5/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72114309	G G	GAAGGGAA others(28): Show GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGC	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0127 a0001c0001t0046g0127	1	142	0.0070	35	c.245 others(52): Show c.245-8016_245-8015insGCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72205551	A A	AAATATAT others(28): Show AAATATATACATATATACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	142	0.0070	35	c.244 others(54): Show c.244+73134_244+73135insATATATATATATATATATGTATATAT GTATATATT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72205551	A A	AAATATAT others(28): Show AAATATATACATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG06807.hp2 NA18961.hp1 HG01934.hp2 HG06807.hp2 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0086 a0001c0001t0002g0074 a0001c0001t0006g0017 a0001c0001t0001g0086 a0001c0001t0002g0074 a0001c0001t0006g0017	3	142	0.0211	35	c.244 others(54): Show c.244+73134_244+73135insATATATATATATATATATATATATAT GTATATATT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72271575	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0069 a0001c0001t0041g0069	1	142	0.0070	35	c.244 others(52): Show c.244+7110_244+7111insATATATATATTTTTTTTTTTTTTTTTTT TTTTTTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72271575	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0074	1	142	0.0070	35	c.244 others(52): Show c.244+7110_244+7111insATATATATATATATATATTTTTTTTTTT TTTTTTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72271575	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	142	0.0070	35	c.244 others(52): Show c.244+7110_244+7111insATATATATATATATATATATATTTTTTT TTTTTTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALR_chr19_12933609_12949489	12939955	C C	CTTTTTTT others(28): Show CTTTTTTTTTCTTTTTCCTTCTTTCCTTTTCTTTTT	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	350	0.0029	35	c.398 others(48): Show c.398-98_398-97insTTTTTTTTTCTTTTTCCTTCTTTCCTTTTCTT TTT	CALR	ENSG00000179218.15	transcript	ENST00000316448.10	protein_coding	3/8			chr19	TogoVar
CAMKMT_chr2_44356947_44777592	44740359	G G	GGCTTAAG others(28): Show GGCTTAAGCAATCCACCCGCTTCGGTCTCCCAAAGT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0101 a0001c0001t0007g0101	1	198	0.0051	35	c.624 others(52): Show c.624-3259_624-3225dupTAAGCAATCCACCCGCTTCGGTCTCCCA AAGTGCT	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMSAP1_chr9_135803487_135912546	135836412	C C	CGTTCTAC others(28): Show CGTTCTACAGACACGTCACCACACACTTTCTACCCT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	340	0.0029	35	c.104 others(54): Show c.1046-8863_1046-8829dupAGGGTAGAAAGTGTGTGGTGACGTGT CTGTAGAAC	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	7/16			chr9	TogoVar
CAMSAP2_chr1_200733893_200865704	200814131	C C	CGGGGGGA others(28): Show CGGGGGGAGGGGTGGGCGGGGGGGGAGGGGTGGGCG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0028 a0001c0001t0008g0028	1	366	0.0027	35	c.562 others(52): Show c.562-1411_562-1410insGGGGGAGGGGTGGGCGGGGGGGAGGGGT GGGCGGG	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7276303	A A	ATATATAT others(28): Show ATATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0021 a0001c0001t0007g0021	1	58	0.0172	35	c.438 others(54): Show c.438+26678_438+26679insATATATATATATATATATATATTTTT TTTTTTTTT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAND1_chr12_67264358_67324953	67309464	C C	CAGTGGGT others(28): Show CAGTGGGTCTGTCTTCACTTCATTTTTTTATTCTTA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0049 a0001c0002t0049	a0001c0002t0049g0132 a0001c0002t0049g0132	1	328	0.0031	35	c.302 others(52): Show c.3026-436_3026-402dupAGTGGGTCTGTCTTCACTTCATTTTTTT ATTCTTA	CAND1	ENSG00000111530.13	transcript	ENST00000545606.6	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
CANX_chr5_179693967_179736641	179710707	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18997.hp2 NA18950.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0053 a0001c0001t0003g0054	2	380	0.0053	35	c.721 others(50): Show c.721+658_721+659insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	CANX	ENSG00000127022.16	transcript	ENST00000247461.9	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAPN11_chr6_44153820_44189401	44181449	T T	TCACACAC others(28): Show TCACACACACACACACTCACATACACAACCACACCA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp2 HG00558.hp2 others(41): Show HG00140.hp2 HG00544.hp2 HG00558.hp2 HG01167.hp2 HG01975.hp2 HG02027.hp2 HG02083.hp1 HG02132.hp1 HG02273.hp2 HG02300.hp2 HG02738.hp1 HG03491.hp1 HG03492.hp2 HG03704.hp2 HG03710.hp1 HG04204.hp2 HG04228.hp1 NA18940.hp1 NA18942.hp2 NA18948.hp1 NA18955.hp2 NA18960.hp2 NA18962.hp1 NA18970.hp1 NA18970.hp2 NA18977.hp1 NA18978.hp1 NA18980.hp2 NA18985.hp1 NA18994.hp1 NA18998.hp1 NA19005.hp1 NA19005.hp2 NA19012.hp2 NA19054.hp2 NA19060.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19080.hp2 NA19081.hp2 NA19091.hp1 NA19091.hp2 NA20905.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0009	a0001c0001 a0002c0002 a0005c0010 others(1): Show a0001c0001 a0002c0002 a0005c0010 a0009c0009	a0001c0001t0001 a0001c0001t0005 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0005 a0002c0002t0001 a0002c0002t0002 a0005c0010t0005 a0009c0009t0001	a0001c0001t0001g0004 a0001c0001t0001g0293 a0001c0001t0005g0214 others(40): Show a0001c0001t0001g0004 a0001c0001t0001g0293 a0001c0001t0005g0214 a0001c0001t0005g0291 a0001c0001t0005g0340 a0002c0002t0001g0040 a0002c0002t0001g0069 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0082 a0002c0002t0001g0096 a0002c0002t0001g0117 a0002c0002t0001g0132 a0002c0002t0001g0134 a0002c0002t0001g0159 a0002c0002t0001g0175 a0002c0002t0001g0181 a0002c0002t0001g0199 a0002c0002t0001g0215 a0002c0002t0001g0239 a0002c0002t0001g0260 a0002c0002t0001g0263 a0002c0002t0001g0318 a0002c0002t0001g0324 a0002c0002t0001g0341 a0002c0002t0001g0342 a0002c0002t0001g0344 a0002c0002t0001g0348 a0002c0002t0001g0358 a0002c0002t0001g0365 a0002c0002t0001g0375 a0002c0002t0001g0397 a0002c0002t0001g0398 a0002c0002t0001g0404 a0002c0002t0001g0415 a0002c0002t0002g0343 a0005c0010t0005g0038 a0005c0010t0005g0139 a0005c0010t0005g0227 a0009c0009t0001g0169 a0009c0009t0001g0268 a0009c0009t0001g0269 a0009c0009t0001g0369	44	460	0.0957	35	c.193 others(52): Show c.1938+144_1938+145insTCACATACACAACCACACCACACACACA CACACAC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44181617	A A	ACACACAC others(28): Show ACACACACACACACTCACATACAGACACAACCACAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01255.hp2 HG01934.hp2 others(1): Show HG00738.hp2 HG01255.hp2 HG01934.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0158 a0001c0001t0001g0217 others(1): Show a0001c0001t0001g0022 a0001c0001t0001g0158 a0001c0001t0001g0217 a0001c0001t0001g0367	4	460	0.0087	35	c.193 others(52): Show c.1938+307_1938+308insCACTCACATACAGACACAACCACACCAC ACACACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN12_chr19_38725192_38749474	38735670	C C	CGCGGGGC others(28): Show CGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGCGGG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	342	0.0029	35	c.158 others(52): Show c.1584-127_1584-126insCCCGCCCCGCCCCGCCCCCAGAACCCCC GCCCCGC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735772	C C	CAGGGCGG others(28): Show CAGGGCGGGGGTTCTGCGGGCGGGGCGGGGGTTCTG	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0018 a0003c0005t0004g0018	1	342	0.0029	35	c.158 others(52): Show c.1584-229_1584-228insCAGAACCCCCGCCCCGCCCGCAGAACCC CCGCCCT	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735847	C C	CGGGGGTT others(28): Show CGGGGGTTCTGGGGGCGGGGCGGGGCGGGGGTTCTG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0022 a0022	a0022c0035 a0022c0035	a0022c0035t0002 a0022c0035t0002	a0022c0035t0002g0206 a0022c0035t0002g0206	1	342	0.0029	35	c.158 others(52): Show c.1583+262_1583+263insCAGAACCCCCGCCCCGCCCCGCCCCCAG AACCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN13_chr2_30717771_30812446	30759056	C C	CTCCCTCC others(28): Show CTCCCTCCCTCCCTCCTCCCTCCCTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02155.hp2 HG02132.hp1 HG02155.hp2	a0002 a0010 a0002 a0010	a0002c0003 a0010c0015 a0002c0003 a0010c0015	a0002c0003t0001 a0010c0015t0001 a0002c0003t0001 a0010c0015t0001	a0002c0003t0001g0156 a0010c0015t0001g0081 a0002c0003t0001g0156 a0010c0015t0001g0081	2	384	0.0052	35	c.775 others(50): Show c.775-920_775-919insAGGAAGGAAGGAGGGAGGGAGGAGGGAGGG AGGGA	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	7/22			chr2	TogoVar
CAPN15_chr16_522712_559636	550778	T T	TCCCCGGT others(28): Show TCCCCGGTCGGTGAGGGCGCCCCGCCGGTGAGGGTC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0046 a0001c0046	a0001c0046t0037 a0001c0046t0037	a0001c0046t0037g0268 a0001c0046t0037g0268	1	410	0.0024	35	c.206 others(52): Show c.2067-521_2067-520insCGGTCGGTGAGGGCGCCCCGCCGGTGAG GGTCCCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPZB_chr1_19333775_19490539	19416399	T T	TTCCCCAT others(28): Show TTCCCCATAGAGTCTAAATCATCTAAAGGAGGTGAG	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0143 a0001c0002t0003g0143	1	364	0.0028	35	c.93+ others(50): Show c.93+3227_93+3261dupCTCACCTCCTTTAGATGATTTAGACTCTAT GGGGA	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	2/8			chr1	TogoVar
CARD14_chr17_80165030_80214331	80165033	C C	CATTTTAT others(28): Show CATTTTATTTTATTTTATTTTATTTTATTTTATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01515.hp2 HG02683.hp2 others(2): Show HG01243.hp2 HG01515.hp2 HG02683.hp2 HG03471.hp1 NA19240.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0025	a0001c0012 a0001c0023 a0002c0005 others(2): Show a0001c0012 a0001c0023 a0002c0005 a0004c0003 a0025c0054	a0001c0012t0001 a0001c0023t0012 a0002c0005t0007 others(2): Show a0001c0012t0001 a0001c0023t0012 a0002c0005t0007 a0004c0003t0001 a0025c0054t0003	a0001c0012t0001g0029 a0001c0023t0012g0057 a0002c0005t0007g0046 others(2): Show a0001c0012t0001g0029 a0001c0023t0012g0057 a0002c0005t0007g0046 a0004c0003t0001g0028 a0025c0054t0003g0364	5	376	0.0133	35	c.-57 others(46): Show c.-5713_-5712insATTTTATTTTATTTTATTTTATTTTATTTTATTT T	CARD14	ENSG00000141527.19	transcript	ENST00000648509.2	protein_coding		4996		chr17	TogoVar
CARM1_chr19_10866553_10928075	10901948	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA19083.hp1 NA18994.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0233 a0001c0001t0003g0330 a0001c0001t0003g0233 a0001c0001t0003g0330	2	354	0.0057	35	c.221 others(52): Show c.221-3001_221-3000insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	CARM1	ENSG00000142453.13	transcript	ENST00000327064.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr19	TogoVar
CARMIL1_chr6_25274374_25625530	25450912	T T	TTCTCTTC others(28): Show TTCTCTTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0176 a0001c0001t0015g0176	1	186	0.0054	35	c.614 others(50): Show c.614+205_614+206insTTCTCCTCTCCTCTCCTCTCCTCTCCTCTC CTCTC	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25450980	T T	TCCTCTCT others(28): Show TCCTCTCTTCTCTTCTCCTCTCCCCTCTCCCCTCTC	intron_variant intron_variant	MODIFIER	HG03491.hp1 NA19011.hp1 HG03491.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0022 a0001c0001 a0001c0022	a0001c0001t0003 a0001c0022t0002 a0001c0001t0003 a0001c0022t0002	a0001c0001t0003g0128 a0001c0022t0002g0108 a0001c0001t0003g0128 a0001c0022t0002g0108	2	186	0.0108	35	c.614 others(50): Show c.614+271_614+272insTCTCTTCTCTTCTCCTCTCCCCTCTCCCCT CTCCC	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25455712	A A	AGGTCATT others(28): Show AGGTCATTATTTTTTTCTGCCTAGAAGTTTGTAACT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	186	0.0054	35	c.614 others(52): Show c.614+5003_614+5037dupGTCATTATTTTTTTCTGCCTAGAAGTTT GTAACTG	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARS2_chr13_110636417_110711116	110649931	C C	CTGTTTTT others(28): Show CTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0240 a0001c0003t0001g0240	1	372	0.0027	35	c.105 others(54): Show c.1054+1102_1054+1103insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAACA	CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	10/14			chr13	TogoVar
CARS2_chr13_110636417_110711116	110679573	G G	GAGAAAGA others(28): Show GAGAAAGAAAGAAGAGAGAGAGAGAGAGAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0060 a0001c0002t0001g0060	1	372	0.0027	35	c.656 others(52): Show c.656-2471_656-2470insTTCTTTCTCTCTCTCTCTCTCTCTTCTT TCTTTCT	CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	6/14			chr13	TogoVar
CASR_chr3_122178668_122296629	122252448	A A	AGAAAGAA others(28): Show AGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03710.hp2 HG02630.hp1 HG03710.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0002 a0001c0001t0005 a0002c0002t0002	a0001c0001t0005g0183 a0002c0002t0002g0168 a0001c0001t0005g0183 a0002c0002t0002g0168	2	314	0.0064	35	c.-24 others(54): Show c.-242-1500_-242-1499insGAAAGAAAAAGAAAGAAAGAAAGAAA GAAAGAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CATSPER4_chr1_26185602_26207964	26206510	A A	AAAGAAAG others(28): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	398	0.0025	35	c.39 others(46): Show c.3968_*3969insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA G	CATSPER4	ENSG00000188782.9	transcript	ENST00000456354.7	protein_coding		3547		chr1	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	336	0.0030	35	c.142 others(54): Show c.1428-1156_1428-1155insATATATATATATATATATATATATAT ATATTTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERE_chr1_244456273_244645504	244625432	A A	ATATATAT others(28): Show ATATATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0004	1	206	0.0049	35	c.264 others(54): Show c.2648+7747_2648+7748insATATATATATATATATATTTTTTTTT TTTTTTTTT	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244625432	A A	ATATATAT others(28): Show ATATATATATATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0200 a0001c0003t0001g0200	1	206	0.0049	35	c.264 others(54): Show c.2648+7747_2648+7748insATATATATATATATATTTTTTTTTTT TTTTTTTTT	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244643208	A A	AGAACCTG others(28): Show AGAACCTGCCCCGTTTCAGCAGTATACGTACCATTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0143 a0001c0002t0003g0143	1	206	0.0049	35	c.31 others(46): Show c.3127_*3128insGAACCTGCCCCGTTTCAGCAGTATACGTACCATT G	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding		2705		chr1	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0280 a0001c0001t0003g0280	1	342	0.0029	35	c.195 others(52): Show c.195+7707_195+7708insATATATATATATATATATATATATATAT TTTTTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar

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