Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CALML3_chr10_5519961_5531771	5521239	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00673.hp2 HG01975.hp1 others(23): Show HG00438.hp2 HG00673.hp2 HG01975.hp1 HG01978.hp1 HG02027.hp2 HG02129.hp2 HG02148.hp2 HG02273.hp1 HG02615.hp2 HG02630.hp1 HG02723.hp1 HG03654.hp2 NA18906.hp2 NA18939.hp1 NA18956.hp1 NA18963.hp1 NA18970.hp1 NA18970.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA19064.hp1 NA19066.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0028 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0004g0000 others(6): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0004g0000 a0001c0001t0006g0000 a0001c0001t0007g0000 a0001c0001t0028g0000 a0001c0002t0001g0000 a0001c0002t0002g0000 a0001c0002t0003g0000	26	452	0.0575	28	c.-38 others(39): Show c.-3847_-3846insTATATATATATATATATATATATATATG	CALML3	ENSG00000178363.5	transcript	ENST00000315238.3	protein_coding		3721		chr10	TogoVar
CALML3_chr10_5519961_5531771	5521241	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG01106.hp2 HG01346.hp1 others(17): Show HG00280.hp2 HG01106.hp2 HG01346.hp1 HG02056.hp2 HG02523.hp2 HG02970.hp2 HG03041.hp1 HG03239.hp2 HG03490.hp2 HG03492.hp2 HG03688.hp2 HG03704.hp2 HG04199.hp1 NA18962.hp1 NA18972.hp2 NA18992.hp2 NA19005.hp1 NA19054.hp2 NA19058.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0002t0003 a0001c0002t0006	a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 others(3): Show a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 a0001c0001t0005g0000 a0001c0002t0003g0000 a0001c0002t0006g0000	20	452	0.0443	28	c.-38 others(39): Show c.-3845_-3844insTATATATATATATATATATATATATATG	CALML3	ENSG00000178363.5	transcript	ENST00000315238.3	protein_coding		3719		chr10	TogoVar
CALN1_chr7_71774491_72417338	72054548	T T	TATATACA others(21): Show TATATACATATATACATACATATATATAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0001 a0001c0001t0022g0001	1	142	0.0070	28	c.389 others(47): Show c.389-30780_389-30779insGTATATATATGTATGTATATATGTAT AT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	4/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72081406	G G	GGGGTGTG others(21): Show GGGGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0026 a0001c0001t0015g0026	1	142	0.0070	28	c.388 others(47): Show c.388+24744_388+24745insACACACACACACACACACACACACAC CC	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	4/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72081417	G G	GTGTGTGT others(21): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01081.hp1 HG01109.hp1 others(11): Show HG00639.hp2 HG01081.hp1 HG01109.hp1 HG01361.hp2 HG02080.hp2 HG02723.hp1 HG02809.hp1 HG03453.hp1 HG03540.hp2 HG03704.hp1 HG06807.hp1 NA18747.hp2 NA18942.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 a0001c0001t0017 a0001c0001t0037 a0001c0001t0042	a0001c0001t0001g0051 a0001c0001t0001g0108 a0001c0001t0001g0121 others(11): Show a0001c0001t0001g0051 a0001c0001t0001g0108 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0096 a0001c0001t0002g0113 a0001c0001t0004g0071 a0001c0001t0004g0100 a0001c0001t0014g0046 a0001c0001t0017g0028 a0001c0001t0037g0072 a0001c0001t0042g0052	14	142	0.0986	28	c.388 others(47): Show c.388+24733_388+24734insGACACACACACACACACACACACACA CA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	4/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72114256	A A	AGGGAAGG others(21): Show AGGGAAGGGAAGGGAGTAAAAATAAAAGT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0024 a0001c0001t0031g0024	1	142	0.0070	28	c.245 others(45): Show c.245-7963_245-7962insACTTTTATTTTTACTCCCTTCCCTTCCC	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72205551	A A	AATATATA others(21): Show AATATATACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0007 a0001c0001t0005g0007	1	142	0.0070	28	c.244 others(47): Show c.244+73134_244+73135insATATATATATATATATATATGTATAT AT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72271575	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0100 a0001c0001t0004g0100	1	142	0.0070	28	c.244 others(45): Show c.244+7110_244+7111insATATATATATATATATTTTTTTTTTTTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72271575	A A	AAAAAAAA others(21): Show AAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02015.hp2 NA18948.hp2 HG01934.hp2 HG02015.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0048 a0001c0001t0002g0085 a0001c0001t0006g0017 a0001c0001t0002g0048 a0001c0001t0002g0085 a0001c0001t0006g0017	3	142	0.0211	28	c.244 others(45): Show c.244+7110_244+7111insATATATATATATATATATTTTTTTTTTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72338525	G G	GTGTGTGT others(21): Show GTGTGTGTGTGTGTGTGTGTGTGTCTGTC	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0096	1	142	0.0070	28	c.120 others(47): Show c.120-59716_120-59715insGACAGACACACACACACACACACACA CA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	2/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72338527	G G	GTGTGTGT others(21): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0130 a0001c0001t0049g0130	1	142	0.0070	28	c.120 others(47): Show c.120-59718_120-59717insGACACACACACACACACACACACACA CA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	2/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72387306	G G	GAGGGAGG others(21): Show GAGGGAGGGAGGAAGGGAGGAAGGGAGGA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03654.hp2 HG03139.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0013 a0001c0001t0003 a0001c0001t0013	a0001c0001t0003g0044 a0001c0001t0013g0117 a0001c0001t0003g0044 a0001c0001t0013g0117	2	142	0.0141	28	c.119 others(47): Show c.119+15944_119+15945insTCCTCCCTTCCTCCCTTCCTCCCTCC CT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	2/6			chr7	TogoVar
CAMK1D_chr10_12344547_12840545	12387397	T T	TATATTAT others(21): Show TATATTATATATTATATATATAATATATA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0194 a0001c0001t0006g0194	1	214	0.0047	28	c.92+ others(45): Show c.92+37487_92+37488insATATTATATATTATATATATAATATATA	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10			chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12541842	T T	TCTTCCTT others(21): Show TCTTCCTTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG03669.hp1 HG04184.hp1 others(4): Show HG02040.hp2 HG03669.hp1 HG04184.hp1 NA18612.hp1 NA18906.hp2 NA19084.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 others(4): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0033 a0001c0001t0047 a0001c0001t0098 a0001c0001t0112	a0001c0001t0004g0134 a0001c0001t0005g0062 a0001c0001t0009g0122 others(4): Show a0001c0001t0004g0134 a0001c0001t0005g0062 a0001c0001t0009g0122 a0001c0001t0033g0185 a0001c0001t0047g0066 a0001c0001t0098g0037 a0001c0001t0112g0038	7	214	0.0327	28	c.93- others(45): Show c.93-11363_93-11336dupCCTTCCTTCCTTCCTTCCTTCCTTCCTT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12547682	T T	TCTCTCTC others(21): Show TCTCTCTCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0006 a0001c0002t0016g0006	1	214	0.0047	28	c.93- others(43): Show c.93-5542_93-5541insTCTCTCACACACACACACACACACACAC	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12563664	T T	TGAGAGAG others(21): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	214	0.0047	28	c.224 others(47): Show c.224+10316_224+10343dupAGAGAGAGAGAGAGAGAGAGAGAGAG AG	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12620186	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0063 a0001c0002t0063	a0001c0002t0063g0201 a0001c0002t0063g0201	1	214	0.0047	28	c.225 others(47): Show c.225-46545_225-46518dupAAAAAAAAAAAAAAAAAAAAAAAAAA AA	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12623047	C C	CCCTCCCT others(21): Show CCCTCCCTCCCTCCCTTCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0107 a0001c0002t0107	a0001c0002t0107g0117 a0001c0002t0107g0117	1	214	0.0047	28	c.225 others(47): Show c.225-43674_225-43673insTCCTCCCTCCCTTCCTCCCTCCCTCC CT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12623123	T T	TGCTTCTT others(21): Show TGCTTCTTCCCTCCCTTCCTCCCTTCCTC	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02055.hp2 HG02109.hp2 others(8): Show HG01928.hp1 HG02055.hp2 HG02109.hp2 HG02735.hp1 HG03471.hp2 HG03942.hp2 NA18945.hp2 NA18948.hp2 NA18954.hp1 NA18978.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0029 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0029 a0001c0001t0072 a0001c0002t0008 a0001c0002t0011 a0001c0002t0016 a0001c0002t0052 a0001c0003t0022	a0001c0001t0001g0016 a0001c0001t0001g0176 a0001c0001t0002g0197 others(8): Show a0001c0001t0001g0016 a0001c0001t0001g0176 a0001c0001t0002g0197 a0001c0001t0029g0136 a0001c0001t0072g0057 a0001c0002t0008g0113 a0001c0002t0008g0205 a0001c0002t0011g0164 a0001c0002t0016g0186 a0001c0002t0052g0214 a0001c0003t0022g0024	11	214	0.0514	28	c.225 others(47): Show c.225-43613_225-43612insGCTTCTTCCCTCCCTTCCTCCCTTCC TC	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	2/10			chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12623423	T T	TCCTCCCT others(21): Show TCCTCCCTCCCTCCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03942.hp1 HG03491.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0018 a0001c0001t0002 a0001c0001t0018	a0001c0001t0002g0003 a0001c0001t0018g0013 a0001c0001t0002g0003 a0001c0001t0018g0013	2	214	0.0094	28	c.225 others(47): Show c.225-43298_225-43297insCCCTCCCTCCCTCCCTCCCTCCCTCC CT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12801354	T T	TATCTATC others(21): Show TATCTATCTATCTATCTTATCTATCTATC	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0100 a0001c0001t0100	a0001c0001t0100g0135 a0001c0001t0100g0135	1	214	0.0047	28	c.641 others(47): Show c.641+10121_641+10122insATCTATCTATCTATCTTATCTATCTA TC	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	6/10			chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12827462	T T	TTTTCTTT others(21): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0039 a0001c0001t0019g0039	1	214	0.0047	28	c.104 others(47): Show c.1040-1306_1040-1305insTTCTTTCTTTCTTTCTTTCTTTCTTT CT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12827464	G G	GTCTTTCT others(21): Show GTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03209.hp2 HG01891.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0104 a0001c0001t0019 a0001c0001t0104	a0001c0001t0019g0086 a0001c0001t0104g0089 a0001c0001t0019g0086 a0001c0001t0104g0089	2	214	0.0094	28	c.104 others(47): Show c.1040-1302_1040-1301insTTCTTTCTTTCTTTCTTTCTTTCTTT CT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12827468	G G	GTCTTTCT others(21): Show GTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0208 a0001c0002t0004g0208	1	214	0.0047	28	c.104 others(47): Show c.1040-1298_1040-1297insTTCTTTCTTTCTTTCTTTCTTTCTTT CT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12827472	G G	GTCTTTCT others(21): Show GTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA18989.hp1 NA18999.hp1 HG02074.hp2 NA18989.hp1 NA18999.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0021 a0001c0002t0004 a0001c0002t0021	a0001c0002t0004g0077 a0001c0002t0004g0091 a0001c0002t0021g0023 a0001c0002t0004g0077 a0001c0002t0004g0091 a0001c0002t0021g0023	3	214	0.0140	28	c.104 others(47): Show c.1040-1255_1040-1228dupCTTTCTTTCTTTCTTTCTTTCTTTCT TT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12838657	T T	TTTTATTT others(21): Show TTTTATTTATTTATTTATTTATTTATTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG01981.hp1 HG02040.hp2 others(5): Show HG00099.hp2 HG01981.hp1 HG02040.hp2 HG02258.hp2 HG02559.hp2 HG02717.hp2 NA19084.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0031 a0001c0001t0033 a0001c0001t0042 others(4): Show a0001c0001t0031 a0001c0001t0033 a0001c0001t0042 a0001c0001t0102 a0001c0001t0112 a0001c0002t0044 a0001c0002t0045	a0001c0001t0031g0170 a0001c0001t0033g0138 a0001c0001t0033g0185 others(5): Show a0001c0001t0031g0170 a0001c0001t0033g0138 a0001c0001t0033g0185 a0001c0001t0042g0085 a0001c0001t0102g0010 a0001c0001t0112g0038 a0001c0002t0044g0112 a0001c0002t0045g0118	8	214	0.0374	28	c.97 others(39): Show c.9770_*9771insTTTATTTATTTATTTATTTATTTATTTA	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding		3113		chr10	TogoVar
CAMK2D_chr4_113446032_113766738	113709746	G G	GATATATA others(21): Show GATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00642.hp2 HG01099.hp2 others(7): Show HG00423.hp2 HG00642.hp2 HG01099.hp2 HG01168.hp1 HG02080.hp2 HG02135.hp2 HG02965.hp2 NA18944.hp2 NA18953.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0028 a0001c0001t0053	a0001c0001t0001g0054 a0001c0001t0006g0202 a0001c0001t0006g0218 others(7): Show a0001c0001t0001g0054 a0001c0001t0006g0202 a0001c0001t0006g0218 a0001c0001t0008g0199 a0001c0001t0008g0221 a0001c0001t0009g0213 a0001c0001t0009g0244 a0001c0001t0011g0066 a0001c0001t0028g0090 a0001c0001t0053g0182	10	278	0.0360	28	c.161 others(47): Show c.161-48002_161-47975dupATATATATATATATATATATATATAT AT	CAMK2D	ENSG00000145349.20	transcript	ENST00000511664.6	protein_coding	2/20			chr4	TogoVar
CAMK4_chr5_111219384_111499886	111346502	C C	CTATCTAT others(21): Show CTATCTATCTATCTATCTATCTATCTATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0131 a0001c0001t0039g0131	1	246	0.0041	28	c.240 others(45): Show c.240+2413_240+2414insATCTATCTATCTATATATCTATCTATCT	CAMK4	ENSG00000152495.11	transcript	ENST00000282356.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAMKK2_chr12_121232692_121301709	121249687	A A	AGGAGGGT others(21): Show AGGAGGGTGTGGTGCTGTGGACACAAGGG	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	330	0.0030	28	c.132 others(43): Show c.1323+72_1323+99dupCCCTTGTGTCCACAGCACCACACCCTCC	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	13/16			chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121268083	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp2 HG00735.hp2 others(42): Show HG00558.hp2 HG00597.hp2 HG00735.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01261.hp1 HG01346.hp2 HG01943.hp1 HG02135.hp2 HG02572.hp1 HG02735.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02970.hp2 HG03041.hp2 HG03130.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03516.hp1 HG04184.hp2 NA18953.hp2 NA18957.hp2 NA18964.hp1 NA18982.hp1 NA18984.hp1 NA18988.hp2 NA18998.hp2 NA18999.hp2 NA19002.hp2 NA19003.hp1 NA19005.hp1 NA19056.hp1 NA19060.hp1 NA19068.hp2 NA19079.hp2 NA19083.hp1 NA20129.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0009 a0002c0002 a0002c0004 others(8): Show a0001c0009 a0002c0002 a0002c0004 a0002c0006 a0002c0024 a0002c0027 a0004c0005 a0004c0010 a0004c0025 a0005c0012 a0005c0016	a0001c0009t0005 a0002c0002t0001 a0002c0002t0002 others(14): Show a0001c0009t0005 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0012 a0002c0004t0001 a0002c0004t0002 a0002c0006t0004 a0002c0006t0008 a0002c0024t0002 a0002c0027t0003 a0004c0005t0001 a0004c0010t0001 a0004c0010t0002 a0004c0025t0001 a0005c0012t0002 a0005c0016t0002	a0001c0009t0005g0017 a0001c0009t0005g0031 a0001c0009t0005g0034 others(42): Show a0001c0009t0005g0017 a0001c0009t0005g0031 a0001c0009t0005g0034 a0001c0009t0005g0284 a0002c0002t0001g0275 a0002c0002t0002g0117 a0002c0002t0002g0139 a0002c0002t0002g0212 a0002c0002t0002g0217 a0002c0002t0002g0297 a0002c0002t0003g0025 a0002c0002t0012g0122 a0002c0004t0001g0037 a0002c0004t0001g0065 a0002c0004t0001g0206 a0002c0004t0002g0040 a0002c0004t0002g0046 a0002c0004t0002g0050 a0002c0004t0002g0052 a0002c0004t0002g0053 a0002c0004t0002g0078 a0002c0004t0002g0131 a0002c0004t0002g0149 a0002c0004t0002g0204 a0002c0004t0002g0246 a0002c0004t0002g0270 a0002c0004t0002g0271 a0002c0004t0002g0272 a0002c0004t0002g0273 a0002c0004t0002g0274 a0002c0004t0002g0290 a0002c0004t0002g0293 a0002c0006t0004g0209 a0002c0006t0004g0289 a0002c0006t0008g0058 a0002c0024t0002g0243 a0002c0027t0003g0312 a0004c0005t0001g0221 a0004c0005t0001g0296 a0004c0010t0001g0286 a0004c0010t0002g0127 a0004c0025t0001g0240 a0005c0012t0002g0213 a0005c0012t0002g0248 a0005c0016t0002g0112	45	330	0.1364	28	c.625 others(43): Show c.625+554_625+555insATATATATATATATATATATATATATAT	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	5/16			chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121296727	T T	TTCCTCGC others(21): Show TTCCTCGCCCGGGCCGGCCGCGCCGCGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0023 a0002c0015t0023	a0002c0015t0023g0329 a0002c0015t0023g0329	1	330	0.0030	28	c.-15 others(37): Show c.-150_-149insCGCGCGGCGCGGCCGGCCCGGGCGAGGA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding		19		chr12	TogoVar
CAMSAP2_chr1_200733893_200865704	200816723	C C	CATATATG others(21): Show CATATATGTGTGTACACACACACGCGTGT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0330 a0001c0001t0001g0330	1	366	0.0027	28	c.645 others(45): Show c.645+1164_645+1191dupATATATGTGTGTACACACACACGCGTGT	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200817165	C C	CGTGTGTG others(21): Show CGTGTGTGTATATACACACACATATAAGT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0011 a0001c0001t0004g0011	1	366	0.0027	28	c.645 others(45): Show c.645+1542_645+1543insTATAAGTGTGTGTGTATATACACACACA	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7276303	A A	ATATATAT others(21): Show ATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0051 a0001c0001t0012g0051	1	58	0.0172	28	c.438 others(47): Show c.438+26678_438+26679insATATATATATATATTTTTTTTTTTTT TT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7335124	T T	TTGTGTGT others(21): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03041.hp2 HG03579.hp1 HG02630.hp2 HG03041.hp2 HG03579.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0013 a0001c0001 a0005c0013	a0001c0001t0002 a0001c0001t0004 a0005c0013t0009 a0001c0001t0002 a0001c0001t0004 a0005c0013t0009	a0001c0001t0002g0036 a0001c0001t0004g0034 a0005c0013t0009g0033 a0001c0001t0002g0036 a0001c0001t0004g0034 a0005c0013t0009g0033	3	58	0.0517	28	c.438 others(47): Show c.438+85514_438+85515insTGTGTGTGTGTGTGTGTGTGTGTGTG TG	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA2_chr17_4962997_4992675	4963043	A A	AGGTGTGA others(21): Show AGGTGTGAACCACCATGCCTGGACTATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0004 a0003c0004t0002g0004	1	380	0.0026	28	c.56 others(39): Show c.5685_*5712dupCTATAGTCCAGGCATGGTGGTTCACACC	CAMTA2	ENSG00000108509.21	transcript	ENST00000348066.8	protein_coding		4953		chr17	TogoVar
CANT1_chr17_78986716_79014764	79004495	A A	AGAGGGGG others(21): Show AGAGGGGGGTTAGGGAAGGGGGAGTTAGG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0119 a0001c0002t0005g0119	1	394	0.0025	28	c.-14 others(47): Show c.-147+5168_-147+5169insCCTAACTCCCCCTTCCCTAACCCCCC TC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79005056	A A	AGGACAGT others(21): Show AGGACAGTTAGGGAGAGGAGTTAGGGAGG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0255 a0001c0002t0023g0255	1	394	0.0025	28	c.-14 others(47): Show c.-147+4607_-147+4608insCCTCCCTAACTCCTCTCCCTAACTGT CC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79005112	A A	AGAGGGGG others(21): Show AGAGGGGGGTTAGGGAAGGGGGAGTTAGG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02258.hp1 HG03209.hp1 HG02055.hp2 HG02258.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0026 a0001c0002t0027 a0001c0002t0023 a0001c0002t0026 a0001c0002t0027	a0001c0002t0023g0255 a0001c0002t0026g0262 a0001c0002t0027g0263 a0001c0002t0023g0255 a0001c0002t0026g0262 a0001c0002t0027g0263	3	394	0.0076	28	c.-14 others(47): Show c.-147+4551_-147+4552insCCTAACTCCCCCTTCCCTAACCCCCC TC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79005112	A A	AGGGGGGA others(21): Show AGGGGGGAGTTAGGGAAGGGGGAGTTAGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 NA18952.hp2 NA18981.hp1 others(2): Show HG00140.hp1 NA18952.hp2 NA18981.hp1 NA19079.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0002 a0001c0002t0002 a0001c0003t0002	a0001c0002t0002g0028 a0001c0003t0002g0025 a0001c0003t0002g0185 a0001c0002t0002g0028 a0001c0003t0002g0025 a0001c0003t0002g0185	5	394	0.0127	28	c.-14 others(47): Show c.-147+4551_-147+4552insCCTAACTCCCCCTTCCCTAACTCCCC CC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANX_chr5_179693967_179736641	179710707	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01928.hp2 HG03490.hp2 others(1): Show HG00609.hp2 HG01928.hp2 HG03490.hp2 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0001c0001t0013 a0002c0003t0003 a0001c0001t0003 a0001c0001t0013 a0002c0003t0003	a0001c0001t0003g0062 a0001c0001t0003g0067 a0001c0001t0013g0061 others(1): Show a0001c0001t0003g0062 a0001c0001t0003g0067 a0001c0001t0013g0061 a0002c0003t0003g0314	4	380	0.0105	28	c.721 others(43): Show c.721+658_721+659insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CANX	ENSG00000127022.16	transcript	ENST00000247461.9	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAP2_chr6_17388595_17562780	17500340	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0003 a0002c0005t0001g0003	1	206	0.0049	28	c.301 others(45): Show c.301-6812_301-6785dupATATATATATATATATATATATATATAT	CAP2	ENSG00000112186.13	transcript	ENST00000229922.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAP2_chr6_17388595_17562780	17500368	T T	TATATATA others(21): Show TATATATATATATATATATATATTTGGAG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0008 a0001c0014t0008	a0001c0014t0008g0015 a0001c0014t0008g0015	1	206	0.0049	28	c.301 others(45): Show c.301-6785_301-6784insATATATTTGGAGATATATATATATATAT	CAP2	ENSG00000112186.13	transcript	ENST00000229922.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPG_chr2_85389753_85415366	85397704	A A	AAAAGAAA others(21): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA18962.hp2 NA20805.hp2 HG02165.hp1 NA18962.hp2 NA20805.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0034 a0003c0006t0001g0062 a0003c0006t0001g0034 a0003c0006t0001g0062	3	410	0.0073	28	c.892 others(43): Show c.892+315_892+316insCTTTCTTTCTTTCTTTCTTTCTTTCTTT	CAPG	ENSG00000042493.16	transcript	ENST00000263867.9	protein_coding	8/9			chr2	TogoVar
CAPN13_chr2_30717771_30812446	30768678	T T	TTTCCTTC others(21): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02055.hp1 HG02257.hp1 others(6): Show HG01934.hp2 HG02055.hp1 HG02257.hp1 HG02717.hp2 HG02976.hp1 HG03139.hp2 HG03453.hp1 NA18522.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0001g0246 a0001c0001t0001g0271 a0001c0001t0002g0126 others(6): Show a0001c0001t0001g0246 a0001c0001t0001g0271 a0001c0001t0002g0126 a0001c0001t0002g0235 a0001c0001t0002g0272 a0001c0001t0002g0301 a0001c0001t0003g0074 a0001c0001t0003g0286 a0001c0002t0002g0221	9	384	0.0234	28	c.524 others(45): Show c.524+1607_524+1634dupGGAAGGAAGGAAGGAAGGAAGGAAGGAA	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	5/22			chr2	TogoVar
CAPN13_chr2_30717771_30812446	30800116	A A	AAAAGAAA others(21): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA19065.hp1 NA18962.hp2 NA19065.hp1	a0003 a0004 a0003 a0004	a0003c0004 a0004c0005 a0003c0004 a0004c0005	a0003c0004t0002 a0004c0005t0009 a0003c0004t0002 a0004c0005t0009	a0003c0004t0002g0132 a0004c0005t0009g0209 a0003c0004t0002g0132 a0004c0005t0009g0209	2	384	0.0052	28	c.-33 others(45): Show c.-33+7158_-33+7185dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	1/22			chr2	TogoVar
CAPN3_chr15_42354501_42417317	42380728	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0212 a0004c0007t0001g0212	1	306	0.0033	28	c.310 others(45): Show c.310-3731_310-3730insATATATATATATATATATATATATATAT	CAPN3	ENSG00000092529.26	transcript	ENST00000397163.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr15	TogoVar
CAPN3_chr15_42354501_42417317	42380751	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0282 a0002c0009t0001g0282	1	306	0.0033	28	c.310 others(45): Show c.310-3731_310-3730insATATATATATATATATATATATATATTT	CAPN3	ENSG00000092529.26	transcript	ENST00000397163.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr15	TogoVar
CAPN5_chr11_77061971_77131155	77125950	C C	CCCTCTTC others(21): Show CCCTCTTCCATTTTACCCCAAATTCCCTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0159 a0001c0001t0039g0159	1	382	0.0026	28	c.20 others(39): Show c.2080_*2081insCCTCTTCCATTTTACCCCAAATTCCCTT	CAPN5	ENSG00000149260.18	transcript	ENST00000648180.1	protein_coding	13/13	2081		chr11	TogoVar
CAPN9_chr1_230742388_230806989	230761555	A A	AACACACA others(21): Show AACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0001 a0002c0013t0001	a0002c0013t0001g0028 a0002c0013t0001g0028	1	394	0.0025	28	c.403 others(45): Show c.403-1081_403-1080insCACACACACACACACACACACACACACA	CAPN9	ENSG00000135773.13	transcript	ENST00000271971.7	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr1	TogoVar

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Search Results (Total: 10000 hits)