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
CAMKK2_chr12_121232692_121301709	121268083	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01517.hp1 HG02622.hp1 others(14): Show HG00558.hp1 HG01517.hp1 HG02622.hp1 HG02723.hp1 HG02970.hp1 HG03130.hp2 HG03453.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03834.hp2 NA18946.hp1 NA18950.hp1 NA18983.hp2 NA18999.hp1 NA21309.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0009 a0001c0011 a0002c0002 others(4): Show a0001c0009 a0001c0011 a0002c0002 a0002c0004 a0002c0006 a0002c0015 a0005c0012	a0001c0009t0005 a0001c0011t0017 a0002c0002t0003 others(7): Show a0001c0009t0005 a0001c0011t0017 a0002c0002t0003 a0002c0002t0009 a0002c0002t0013 a0002c0004t0001 a0002c0004t0016 a0002c0006t0004 a0002c0015t0010 a0005c0012t0002	a0001c0009t0005g0029 a0001c0011t0017g0325 a0002c0002t0003g0024 others(14): Show a0001c0009t0005g0029 a0001c0011t0017g0325 a0002c0002t0003g0024 a0002c0002t0003g0027 a0002c0002t0003g0104 a0002c0002t0003g0105 a0002c0002t0003g0155 a0002c0002t0009g0132 a0002c0002t0013g0108 a0002c0004t0001g0210 a0002c0004t0016g0260 a0002c0006t0004g0081 a0002c0006t0004g0082 a0002c0006t0004g0247 a0002c0006t0004g0283 a0002c0015t0010g0026 a0005c0012t0002g0113	17	330	0.0515	26	c.625 others(41): Show c.625+554_625+555insATATATATATATATATATATATATAT	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	5/16			chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121268099	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18994.hp2 NA18982.hp2 NA18994.hp2	a0002 a0004 a0002 a0004	a0002c0004 a0004c0010 a0002c0004 a0004c0010	a0002c0004t0001 a0004c0010t0001 a0002c0004t0001 a0004c0010t0001	a0002c0004t0001g0080 a0004c0010t0001g0079 a0002c0004t0001g0080 a0004c0010t0001g0079	2	330	0.0061	26	c.625 others(41): Show c.625+538_625+539insGTATATATATATATATATATATATAT	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	5/16			chr12	TogoVar
CAMSAP1_chr9_135803487_135912546	135892848	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0026 a0001c0001t0030g0026	1	340	0.0029	26	c.161 others(43): Show c.161-9771_161-9770insTTTTTTTTTTTTTTTTTTTTTTTTTT	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	1/16			chr9	TogoVar
CAMSAP2_chr1_200733893_200865704	200816782	A A	ATATGTGT others(19): Show ATATGTGTGTACACACACACGCGCGTG	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0303 a0001c0001t0001g0303	1	366	0.0027	26	c.645 others(43): Show c.645+1160_645+1161insCGTGTATGTGTGTACACACACACGCG	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200816810	A A	ATATGTGT others(19): Show ATATGTGTGTACACACACACGCGCGTG	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0303 a0001c0001t0001g0303	1	366	0.0027	26	c.645 others(43): Show c.645+1188_645+1189insCGTGTATGTGTGTACACACACACGCG	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200816810	A A	ATATGTGT others(19): Show ATATGTGTGTACACACACACGCGTGTG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03195.hp2 HG03041.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0329 a0001c0001t0001g0331 a0001c0001t0001g0329 a0001c0001t0001g0331	2	366	0.0055	26	c.645 others(43): Show c.645+1304_645+1329dupGTACACACACACGCGTGTGTATGTGT	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7276303	A A	ATAATTTT others(19): Show ATAATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03453.hp2 HG02630.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0020 a0001c0003t0008 a0001c0001t0020 a0001c0003t0008	a0001c0001t0020g0049 a0001c0003t0008g0032 a0001c0001t0020g0049 a0001c0003t0008g0032	2	58	0.0345	26	c.438 others(45): Show c.438+26678_438+26679insAATTTTTTTTTTTTTTTTTTTTTTTT	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(19): Show TTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0004 a0001c0010t0004	a0001c0010t0004g0031 a0001c0010t0004g0031	1	58	0.0172	26	c.438 others(45): Show c.438+85514_438+85515insTGTGTGTGTGTGTGTGTGTGTGTGTG	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7398193	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0006 a0001c0002t0003g0006	1	58	0.0172	26	c.439 others(45): Show c.439-69636_439-69635insCTCTCTCTCTCTCTCTCTATATATAT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CANT1_chr17_78986716_79014764	79004497	G G	GGGAGTTA others(19): Show GGGAGTTAGGGAGATGAGTTAGGGAGA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03927.hp2 HG03669.hp1 HG03927.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0027 a0001c0003t0002g0027	2	394	0.0051	26	c.-14 others(45): Show c.-147+5166_-147+5167insTCTCCCTAACTCATCTCCCTAACTCC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79004499	G G	GGGAGCTG others(19): Show GGGAGCTGGGGGGGAGTTATGGAGCAA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0074 a0001c0002t0002g0074	1	394	0.0025	26	c.-14 others(45): Show c.-147+5164_-147+5165insTTGCTCCATAACTCCCCCCCAGCTCC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79004510	A A	AGAGGAGT others(19): Show AGAGGAGTTAAGGAGAGGGGAGTTAGG	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA19000.hp1 NA19007.hp2 others(1): Show NA18986.hp2 NA19000.hp1 NA19007.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0181 others(1): Show a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0181 a0001c0001t0004g0249	4	394	0.0102	26	c.-14 others(45): Show c.-147+5153_-147+5154insCCTAACTCCCCTCTCCTTAACTCCTC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANX_chr5_179693967_179736641	179710707	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0079 a0001c0001t0003g0079	1	380	0.0026	26	c.721 others(41): Show c.721+658_721+659insAAAAAAAAAAAAAAAAAAAAAAAAAA	CANX	ENSG00000127022.16	transcript	ENST00000247461.9	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAP2_chr6_17388595_17562780	17461992	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0146 a0001c0002t0001g0146	1	206	0.0049	26	c.223 others(41): Show c.223-998_223-973dupAAAAAAAAAAAAAAAAAAAAAAAAAA	CAP2	ENSG00000112186.13	transcript	ENST00000229922.7	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAP2_chr6_17388595_17562780	17500340	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02897.hp2 HG04204.hp2 HG01192.hp1 HG02897.hp2 HG04204.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0010 a0001c0001 a0004c0010	a0001c0001t0001 a0001c0001t0002 a0004c0010t0001 a0001c0001t0001 a0001c0001t0002 a0004c0010t0001	a0001c0001t0001g0007 a0001c0001t0002g0027 a0004c0010t0001g0063 a0001c0001t0001g0007 a0001c0001t0002g0027 a0004c0010t0001g0063	3	206	0.0146	26	c.301 others(43): Show c.301-6810_301-6785dupATATATATATATATATATATATATAT	CAP2	ENSG00000112186.13	transcript	ENST00000229922.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN12_chr19_38725192_38749474	38735777	C C	CGGGGGTT others(19): Show CGGGGGTTCTGGGGGCGGGGCGGGGCG	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0246 a0001c0013t0001g0246	1	342	0.0029	26	c.158 others(43): Show c.1584-234_1584-233insCGCCCCGCCCCGCCCCCAGAACCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735977	C C	CGGGGCGG others(19): Show CGGGGCGGGGCGGGGGTTCTGGGGGCG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0244 a0001c0003t0001g0244	1	342	0.0029	26	c.158 others(43): Show c.1583+132_1583+133insCGCCCCCAGAACCCCCGCCCCGCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN14_chr2_31168056_31222515	31195603	C C	CTGGGATT others(19): Show CTGGGATTACAGGTGTGAGTCACTATG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0118 a0001c0001t0002g0118	1	326	0.0031	26	c.876 others(43): Show c.876-1146_876-1121dupCATAGTGACTCACACCTGTAATCCCA	CAPN14	ENSG00000214711.10	transcript	ENST00000403897.4	protein_coding	8/21			chr2	TogoVar
CAPN2_chr1_223707539_223781018	223737720	G G	GTGGGGGG others(19): Show GTGGGGGGGGGGGGGGCGGGGGCGGGT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0010 a0001c0038t0010	a0001c0038t0010g0351 a0001c0038t0010g0351	1	378	0.0027	26	c.308 others(43): Show c.308-6380_308-6379insTGGGGGGGGGGGGGGCGGGGGCGGGT	CAPN2	ENSG00000162909.18	transcript	ENST00000295006.6	protein_coding	2/20			chr1	TogoVar
CAPZA2_chr7_116857587_116927049	116880696	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	354	0.0028	26	c.40- others(41): Show c.40-7418_40-7393dupTTTTTTTTTTTTTTTTTTTTTTTTTT	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAPZA2_chr7_116857587_116927049	116904969	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0295 a0001c0002t0003g0295	1	354	0.0028	26	c.426 others(41): Show c.426+606_426+607insAAAAAAAAAAAAAAAAAAAAAAAAAA	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAPZB_chr1_19333775_19490539	19366283	A A	AATAAATA others(19): Show AATAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	364	0.0028	26	c.330 others(43): Show c.330-8721_330-8720insATATATATATATATATATATATTTAT	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	4/8			chr1	TogoVar
CAPZB_chr1_19333775_19490539	19366283	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA18990.hp2 HG00438.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0235 a0001c0001t0001g0044 a0001c0001t0001g0235	2	364	0.0055	26	c.330 others(43): Show c.330-8746_330-8721dupATATATATATATATATATATATATAT	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	4/8			chr1	TogoVar
CAPZB_chr1_19333775_19490539	19416860	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02622.hp1 HG02809.hp1 HG02258.hp2 HG02622.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0304	3	364	0.0082	26	c.93+ others(41): Show c.93+2775_93+2800dupTTTTTTTTTTTTTTTTTTTTTTTTTT	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	2/8			chr1	TogoVar
CARD19_chr9_93091217_93118283	93116035	G G	GTTCCTTC others(19): Show GTTCCTTCCACATCTTTCTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0002 a0003c0008t0002	a0003c0008t0002g0014 a0003c0008t0002g0014	1	358	0.0028	26	c.29 others(37): Show c.2928_*2929insTTCCTTCCACATCTTTCTTCTTTCTT	CARD19	ENSG00000165233.18	transcript	ENST00000375464.7	protein_coding		2753		chr9	TogoVar
CARF_chr2_202907275_202993263	202986883	T T	TATACATA others(19): Show TATACATATATATATATATATATATAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03225.hp2 HG03453.hp2 HG03225.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0063 a0001c0001t0045g0098 a0001c0001t0045g0063 a0001c0001t0045g0098	2	334	0.0060	26	c.32 others(37): Show c.3262_*3263insCATATATATATATATATATATACATA	CARF	ENSG00000138380.18	transcript	ENST00000438828.4	protein_coding	17/17	3263	INFO_REALIGN_3_PRIME	chr2	TogoVar
CARHSP1_chr16_8847947_8874006	8851977	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0130 a0001c0002t0002g0130	1	470	0.0021	26	c.31 others(37): Show c.3161_*3186dupAAAAAAAAAAAAAAAAAAAAAAAAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding		969		chr16	TogoVar
CARHSP1_chr16_8847947_8874006	8861989	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01099.hp2 HG00438.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0319 a0001c0001t0001g0195 a0001c0001t0001g0319	2	470	0.0043	26	c.-7- others(41): Show c.-7-2680_-7-2655dupAAAAAAAAAAAAAAAAAAAAAAAAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	1/3			chr16	TogoVar
CARMIL1_chr6_25274374_25625530	25332762	C C	CACACACA others(19): Show CACACACACACACACACACACACGCAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02970.hp2 HG02145.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0008 a0001c0004t0004 a0001c0001t0008 a0001c0004t0004	a0001c0001t0008g0101 a0001c0004t0004g0115 a0001c0001t0008g0101 a0001c0004t0004g0115	2	186	0.0108	26	c.138 others(45): Show c.138+47863_138+47864insACACACACACACGCATACACACACAC	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25459242	C C	CTTTCTTT others(19): Show CTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0089 a0001c0003t0002g0089	1	186	0.0054	26	c.615 others(43): Show c.615-6627_615-6602dupCTTTCTTTCTTTCTTTCTTTCTTTTT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25459268	T T	TTCTTTCT others(19): Show TTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA19007.hp1 HG02922.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0080 a0001c0001t0008g0133 a0001c0001t0001g0080 a0001c0001t0008g0133	2	186	0.0108	26	c.615 others(43): Show c.615-6604_615-6603insCTTTCTTTCTTTCTTTCTTTCTTTCT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25529755	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0185 a0001c0003t0010g0185	1	186	0.0054	26	c.206 others(43): Show c.2067+867_2067+892dupAAAAAAAAAAAAAAAAAAAAAAAAAA	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	24/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARS2_chr13_110636417_110711116	110649931	C C	CTGTTTTT others(19): Show CTGTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02074.hp1 HG03927.hp1 others(3): Show HG00438.hp1 HG02074.hp1 HG03927.hp1 NA18981.hp1 NA19002.hp1 NA19011.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0004 a0001c0001 a0001c0003 a0002c0004	a0001c0001t0002 a0001c0003t0002 a0002c0004t0001 a0001c0001t0002 a0001c0003t0002 a0002c0004t0001	a0001c0001t0002g0307 a0001c0001t0002g0310 a0001c0001t0002g0318 others(3): Show a0001c0001t0002g0307 a0001c0001t0002g0310 a0001c0001t0002g0318 a0001c0003t0002g0304 a0001c0003t0002g0314 a0002c0004t0001g0221	6	372	0.0161	26	c.105 others(45): Show c.1054+1102_1054+1103insAAAAAAAAAAAAAAAAAAAAAAAACA	CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	10/14			chr13	TogoVar
CARS2_chr13_110636417_110711116	110679549	A A	AAAAGAAA others(19): Show AAAAGAAAGAAAGAAAGAAAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02451.hp2 HG02717.hp1 others(4): Show HG02280.hp2 HG02451.hp2 HG02717.hp1 HG02976.hp2 HG03130.hp2 HG03540.hp2 NA20300.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0002 a0003c0011 a0007c0014 a0001c0002 a0003c0011 a0007c0014	a0001c0002t0002 a0003c0011t0002 a0007c0014t0002 a0001c0002t0002 a0003c0011t0002 a0007c0014t0002	a0001c0002t0002g0020 a0001c0002t0002g0254 a0003c0011t0002g0255 others(3): Show a0001c0002t0002g0020 a0001c0002t0002g0254 a0003c0011t0002g0255 a0003c0011t0002g0256 a0007c0014t0002g0252 a0007c0014t0002g0253	7	372	0.0188	26	c.656 others(43): Show c.656-2472_656-2447dupCTCTCTCTTTCTTTCTTTCTTTCTTT	CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	6/14			chr13	TogoVar
CASC3_chr17_40135537_40177171	40140317	A A	AACACACA others(19): Show AACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	266	0.0038	26	c.-23 others(35): Show c.-232_-231insACACACACACACACACACACACACAC	CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding		219		chr17	TogoVar
CASK_chrX_41509934_41928554	41598134	G G	GACACACA others(19): Show GACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03471.hp1 HG02109.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0007 a0001c0006t0028 a0001c0001t0007 a0001c0006t0028	a0001c0001t0007g0006 a0001c0006t0028g0018 a0001c0001t0007g0006 a0001c0006t0028g0018	2	164	0.0122	26	c.115 others(45): Show c.1156-8568_1156-8543dupGTGTGTGTGTGTGTGTGTGTGTGTGT	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	12/26			chrX	TogoVar
CASK_chrX_41509934_41928554	41829696	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	164	0.0061	26	c.172 others(45): Show c.172+23393_172+23418dupATATATATATATATATATATATATAT	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	2/26			chrX	TogoVar
CASP3_chr4_184622696_184654447	184631542	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0213 a0001c0001t0002g0213	1	366	0.0027	26	c.483 others(41): Show c.483+197_483+222dupTTTTTTTTTTTTTTTTTTTTTTTTTT	CASP3	ENSG00000164305.20	transcript	ENST00000308394.9	protein_coding	6/7			chr4	TogoVar
CASQ2_chr1_115695021_115773714	115723283	A A	ATCTATCT others(19): Show ATCTATCTATATCTCTCTATATCTATT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0009 a0001c0007t0009	a0001c0007t0009g0052 a0001c0007t0009g0052	1	364	0.0028	26	c.783 others(43): Show c.783+2224_783+2225insAATAGATATAGAGAGATATAGATAGA	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	7/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115750896	C C	CTGTAGGT others(19): Show CTGTAGGTATGTATCGCACCTACAGGA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00423.hp1 others(200): Show HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03492.hp2 HG03540.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18943.hp2 NA18946.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18955.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp2 NA18971.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19005.hp2 NA19006.hp2 NA19009.hp2 NA19012.hp1 NA19043.hp1 NA19054.hp1 NA19057.hp2 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19067.hp1 NA19074.hp1 NA19077.hp2 NA19078.hp2 NA19080.hp2 NA19081.hp2 NA19085.hp2 NA19086.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0006 others(5): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0001c0010 a0002c0003 a0002c0004 a0003c0005	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(14): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0002t0022 a0001c0006t0003 a0001c0007t0009 a0001c0010t0003 a0002c0003t0001 a0002c0003t0003 a0002c0003t0006 a0002c0004t0002 a0002c0004t0005 a0002c0004t0015 a0003c0005t0001	a0001c0001t0002g0153 a0001c0001t0002g0174 a0001c0001t0004g0192 others(198): Show a0001c0001t0002g0153 a0001c0001t0002g0174 a0001c0001t0004g0192 a0001c0001t0004g0206 a0001c0001t0004g0215 a0001c0001t0004g0216 a0001c0001t0004g0217 a0001c0001t0005g0002 a0001c0001t0005g0076 a0001c0001t0005g0141 a0001c0001t0005g0142 a0001c0001t0005g0143 a0001c0001t0005g0144 a0001c0001t0005g0145 a0001c0001t0005g0146 a0001c0001t0005g0147 a0001c0001t0005g0148 a0001c0001t0005g0149 a0001c0001t0005g0150 a0001c0001t0005g0151 a0001c0001t0005g0165 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0077 a0001c0002t0001g0152 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0175 a0001c0002t0003g0003 a0001c0002t0003g0035 a0001c0002t0003g0036 a0001c0002t0003g0037 a0001c0002t0003g0038 a0001c0002t0003g0039 a0001c0002t0003g0041 a0001c0002t0003g0042 a0001c0002t0003g0047 a0001c0002t0003g0048 a0001c0002t0003g0049 a0001c0002t0003g0086 a0001c0002t0003g0140 a0001c0002t0003g0158 a0001c0002t0003g0160 a0001c0002t0003g0161 a0001c0002t0003g0164 a0001c0002t0003g0170 a0001c0002t0003g0171 a0001c0002t0003g0172 a0001c0002t0003g0173 a0001c0002t0003g0176 a0001c0002t0003g0181 a0001c0002t0003g0185 a0001c0002t0003g0186 a0001c0002t0003g0187 a0001c0002t0003g0188 a0001c0002t0003g0189 a0001c0002t0003g0190 a0001c0002t0003g0191 a0001c0002t0003g0193 a0001c0002t0003g0194 a0001c0002t0003g0196 a0001c0002t0003g0197 a0001c0002t0003g0198 a0001c0002t0003g0199 a0001c0002t0003g0200 a0001c0002t0003g0201 a0001c0002t0003g0202 a0001c0002t0003g0203 a0001c0002t0003g0204 a0001c0002t0003g0205 a0001c0002t0003g0207 a0001c0002t0003g0209 a0001c0002t0003g0210 a0001c0002t0003g0211 a0001c0002t0003g0212 a0001c0002t0003g0213 a0001c0002t0003g0214 a0001c0002t0003g0218 a0001c0002t0003g0219 a0001c0002t0003g0220 a0001c0002t0003g0221 a0001c0002t0003g0222 a0001c0002t0003g0223 a0001c0002t0003g0224 a0001c0002t0003g0225 a0001c0002t0003g0226 a0001c0002t0003g0227 a0001c0002t0003g0228 a0001c0002t0003g0230 a0001c0002t0003g0231 a0001c0002t0003g0232 a0001c0002t0006g0040 a0001c0002t0006g0229 a0001c0002t0022g0178 a0001c0006t0003g0168 a0001c0006t0003g0169 a0001c0006t0003g0177 a0001c0006t0003g0182 a0001c0006t0003g0183 a0001c0006t0003g0184 a0001c0007t0009g0179 a0001c0007t0009g0180 a0001c0010t0003g0208 a0002c0003t0001g0260 a0002c0003t0001g0264 a0002c0003t0001g0265 a0002c0003t0001g0267 a0002c0003t0001g0268 a0002c0003t0001g0270 a0002c0003t0001g0271 a0002c0003t0001g0281 a0002c0003t0001g0283 a0002c0003t0001g0284 a0002c0003t0001g0285 a0002c0003t0001g0286 a0002c0003t0001g0299 a0002c0003t0001g0300 a0002c0003t0001g0301 a0002c0003t0001g0303 a0002c0003t0001g0304 a0002c0003t0001g0305 a0002c0003t0001g0310 a0002c0003t0001g0311 a0002c0003t0001g0313 a0002c0003t0001g0316 a0002c0003t0001g0317 a0002c0003t0001g0318 a0002c0003t0001g0323 a0002c0003t0001g0326 a0002c0003t0001g0328 a0002c0003t0001g0329 a0002c0003t0001g0333 a0002c0003t0001g0338 a0002c0003t0001g0340 a0002c0003t0001g0342 a0002c0003t0001g0344 a0002c0003t0001g0345 a0002c0003t0001g0347 a0002c0003t0001g0348 a0002c0003t0001g0349 a0002c0003t0001g0353 a0002c0003t0001g0354 a0002c0003t0001g0355 a0002c0003t0001g0356 a0002c0003t0001g0357 a0002c0003t0003g0256 a0002c0003t0003g0257 a0002c0003t0003g0261 a0002c0003t0003g0262 a0002c0003t0003g0277 a0002c0003t0003g0341 a0002c0003t0006g0320 a0002c0003t0006g0321 a0002c0003t0006g0331 a0002c0003t0006g0351 a0002c0003t0006g0359 a0002c0003t0006g0360 a0002c0004t0002g0255 a0002c0004t0002g0258 a0002c0004t0002g0259 a0002c0004t0002g0263 a0002c0004t0002g0272 a0002c0004t0002g0274 a0002c0004t0002g0275 a0002c0004t0002g0278 a0002c0004t0002g0279 a0002c0004t0002g0280 a0002c0004t0002g0288 a0002c0004t0002g0312 a0002c0004t0002g0327 a0002c0004t0002g0337 a0002c0004t0002g0343 a0002c0004t0002g0352 a0002c0004t0005g0324 a0002c0004t0015g0330 a0003c0005t0001g0234 a0003c0005t0001g0235 a0003c0005t0001g0236 a0003c0005t0001g0237 a0003c0005t0001g0238 a0003c0005t0001g0239 a0003c0005t0001g0240 a0003c0005t0001g0241 a0003c0005t0001g0242 a0003c0005t0001g0243 a0003c0005t0001g0245 a0003c0005t0001g0246 a0003c0005t0001g0247 a0003c0005t0001g0248 a0003c0005t0001g0249 a0003c0005t0001g0250 a0003c0005t0001g0251 a0003c0005t0001g0252 a0003c0005t0001g0253 a0003c0005t0001g0254	203	364	0.5577	26	c.235 others(43): Show c.235-5985_235-5984insTCCTGTAGGTGCGATACATACCTACA	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASR_chr3_122178668_122296629	122252457	A A	AGAAAGAA others(19): Show AGAAAGAAAGAAAGAAAGAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0177 a0001c0001t0005g0177	1	314	0.0032	26	c.-24 others(45): Show c.-242-1491_-242-1490insGAAAGAAAGAAAGAAAGAAAAAAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASTOR2_chr7_74959705_75036528	74963074	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0001 a0001c0001t0012g0001	1	228	0.0044	26	c.-19 others(37): Show c.-1912_-1911insAAAAAAAAAAAAAAAAAAAAAAAAAA	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding		1630		chr7	TogoVar
CASTOR2_chr7_74959705_75036528	74965882	A A	ACACACAC others(19): Show ACACACACACACACACTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02895.hp2 NA18906.hp1 HG02895.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0059 a0001c0001t0001g0060	2	228	0.0088	26	c.113 others(41): Show c.113+785_113+786insACACACACACACACTCTCTCTCTCTC	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
CASTOR2_chr7_74959705_75036528	74965882	A A	ACACACAC others(19): Show ACACACACACACACTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0010 a0001c0001t0009g0010	1	228	0.0044	26	c.113 others(41): Show c.113+785_113+786insACACACACACACTCTCTCTCTCTCTC	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
CASTOR2_chr7_74959705_75036528	74965882	A A	ACACACAC others(19): Show ACACACACACTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA18522.hp1 HG03516.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0064 a0001c0001t0029g0065 a0001c0001t0029g0064 a0001c0001t0029g0065	2	228	0.0088	26	c.113 others(41): Show c.113+785_113+786insACACACACTCTCTCTCTCTCTCTCTC	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
CASZ1_chr1_10631604_10801646	10700080	G G	GACACACA others(19): Show GACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02080.hp1 NA18969.hp1 HG01928.hp1 HG02080.hp1 NA18969.hp1	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0001 a0001c0008t0011 a0001c0008t0019 a0001c0002t0001 a0001c0008t0011 a0001c0008t0019	a0001c0002t0001g0083 a0001c0008t0011g0103 a0001c0008t0019g0038 a0001c0002t0001g0083 a0001c0008t0011g0103 a0001c0008t0019g0038	3	236	0.0127	26	c.-24 others(43): Show c.-24+5386_-24+5411dupGTGTGTGTGTGTGTGTGTGTGTGTGT	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	3/20			chr1	TogoVar
CATIP_chr2_218351857_218373094	218357259	G G	GTCTCTCT others(19): Show GTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02572.hp1 NA18943.hp2 others(5): Show HG02135.hp2 HG02572.hp1 NA18943.hp2 NA18972.hp2 NA18981.hp2 NA19030.hp2 NA19054.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 others(5): Show a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0006t0001g0059	8	366	0.0219	26	c.118 others(40): Show c.118+78_118+103dupCTCTCTCTCTCTCTCTCTCTCTCTCT	CATIP	ENSG00000158428.4	transcript	ENST00000289388.4	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CATSPER4_chr1_26185602_26207964	26207777	A A	AAAAAAGA others(19): Show AAAAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0007 a0001c0003t0002g0007	1	398	0.0025	26	c.52 others(37): Show c.5235_*5236insAAAAAGAAAGAAAGAAAGAAAGAAAG	CATSPER4	ENSG00000188782.9	transcript	ENST00000456354.7	protein_coding		4814		chr1	TogoVar
CATSPER4_chr1_26185602_26207964	26207777	A A	AAAGAAGA others(19): Show AAAGAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	1	398	0.0025	26	c.52 others(37): Show c.5235_*5236insAAGAAGAAAGAAAGAAAGAAAGAAAG	CATSPER4	ENSG00000188782.9	transcript	ENST00000456354.7	protein_coding		4814		chr1	TogoVar
CATSPER4_chr1_26185602_26207964	26207777	A A	AAGAAAGA others(19): Show AAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0122 a0001c0001t0002g0122	1	398	0.0025	26	c.52 others(37): Show c.5235_*5236insAGAAAGAAAGAAAGAAAGAAAGAAAG	CATSPER4	ENSG00000188782.9	transcript	ENST00000456354.7	protein_coding		4814		chr1	TogoVar

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Search Results (Total: 10000 hits)