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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CAMTA1_chr1_6780454_7774706	7335124	T T	TTGTGTGT others(23): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0006 a0001c0002t0003g0006	1	58	0.0172	30	c.438 others(49): Show c.438+85514_438+85515insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTG		CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22					INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7602020	G G	GGGAGAGG others(23): Show GGGAGAGGAGGGAGAGGAGGGAGAGGAGGGA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0009 a0005c0013t0009	a0005c0013t0009g0033 a0005c0013t0009g0033	1	58	0.0172	30	c.511 others(49): Show c.511-38379_511-38378insGAGAGGAGGGAGAGGAGGGAGAGGAG GGAG		CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	6/22					INFO_REALIGN_3_PRIME	chr1	TogoVar
CAND1_chr12_67264358_67324953	67269643	T T	TGGCGGCG others(23): Show TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0147 a0001c0001t0061g0147	1	328	0.0031	30	c.-57 others(37): Show c.-57_-56insGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC		CAND1	ENSG00000111530.13	transcript	ENST00000545606.6	protein_coding	1/15				56	INFO_REALIGN_3_PRIME	chr12	TogoVar
CANT1_chr17_78986716_79014764	79004897	A A	AGGGGAGT others(23): Show AGGGGAGTTAGGGAGAGGGGATTTAGGGAGG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0232 a0001c0002t0020g0232	1	394	0.0025	30	c.-14 others(49): Show c.-147+4766_-147+4767insCCTCCCTAAATCCCCTCTCCCTAACT CCCC		CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4						chr17	TogoVar
CANX_chr5_179693967_179736641	179710707	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01243.hp1 HG02155.hp2 others(6): Show HG00280.hp1 HG01243.hp1 HG02155.hp2 HG03098.hp2 NA18522.hp1 NA18906.hp1 NA18962.hp2 NA19004.hp2 NA19059.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0002 a0001c0001 a0002c0003 a0003c0002	a0001c0001t0003 a0002c0003t0003 a0003c0002t0020 a0001c0001t0003 a0002c0003t0003 a0003c0002t0020	a0001c0001t0003g0044 a0001c0001t0003g0058 a0001c0001t0003g0059 others(5): Show a0001c0001t0003g0044 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0077 a0002c0003t0003g0029 a0002c0003t0003g0311 a0002c0003t0003g0313 a0003c0002t0020g0060	9	380	0.0237	30	c.721 others(45): Show c.721+658_721+659insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		CANX	ENSG00000127022.16	transcript	ENST00000247461.9	protein_coding	7/14					INFO_REALIGN_3_PRIME	chr5	TogoVar
CAPN10_chr2_240581734_240604104	240590567	A A	AAGAGTTC others(23): Show AAGAGTTCTCTGCGACATCCAGGTGTGCCGT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00544.hp1 others(40): Show HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00642.hp1 HG00733.hp1 HG00738.hp2 HG01074.hp2 HG01167.hp2 HG01192.hp1 HG01256.hp2 HG01258.hp2 HG01346.hp2 HG02055.hp2 HG02523.hp1 HG02602.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp2 HG03017.hp1 HG03491.hp1 HG03654.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 NA18747.hp1 NA18956.hp1 NA18959.hp1 NA18969.hp1 NA18971.hp1 NA18974.hp2 NA18989.hp2 NA18991.hp1 NA18998.hp1 NA19002.hp1 NA19043.hp1 NA19074.hp2 NA19085.hp2 NA19091.hp2 NA20805.hp2 NA20905.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0004 a0002c0003t0003 a0002c0003t0004	a0002c0003t0003g0004 a0002c0003t0003g0008 a0002c0003t0003g0026 others(6): Show a0002c0003t0003g0004 a0002c0003t0003g0008 a0002c0003t0003g0026 a0002c0003t0003g0027 a0002c0003t0003g0044 a0002c0003t0003g0045 a0002c0003t0003g0086 a0002c0003t0003g0088 a0002c0003t0004g0026	43	412	0.1044	30	c.274 others(45): Show c.274-160_274-131dupCGTAGAGTTCTCTGCGACATCCAGGTGTGC		CAPN10	ENSG00000142330.20	transcript	ENST00000391984.7	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr2	TogoVar
CAPN10_chr2_240581734_240604104	240590583	A A	ATCCAGGT others(23): Show ATCCAGGTGTGCCGTAGAGTTCTCTGCGACG	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0087 a0002c0003t0003g0087	1	412	0.0024	30	c.274 others(45): Show c.274-203_274-202insGTCCAGGTGTGCCGTAGAGTTCTCTGCGAC		CAPN10	ENSG00000142330.20	transcript	ENST00000391984.7	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr2	TogoVar
CAPN10_chr2_240581734_240604104	240590642	C C	CATCCAGG others(23): Show CATCCAGGTGTGCCGTAGAGTTCTCTGCGAT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG03704.hp2 HG01168.hp1 HG03704.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0040 a0002c0003t0003g0040	2	412	0.0049	30	c.274 others(45): Show c.274-144_274-143insTATCCAGGTGTGCCGTAGAGTTCTCTGCGA		CAPN10	ENSG00000142330.20	transcript	ENST00000391984.7	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr2	TogoVar
CAPN12_chr19_38725192_38749474	38735837	G G	GCGGGCGG others(23): Show GCGGGCGGGGCGGGGCGGGGGTTCTGGGGGC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0042 a0001c0001t0012g0042	1	342	0.0029	30	c.158 others(47): Show c.1583+272_1583+273insGCCCCCAGAACCCCCGCCCCGCCCCGCC CG		CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20						chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735843	G G	GGGGCGGG others(23): Show GGGGCGGGGCGGGGCGGGGCGGTGGTTCTGC	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	342	0.0029	30	c.158 others(47): Show c.1583+266_1583+267insGCAGAACCACCGCCCCGCCCCGCCCCGC CC		CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20						chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735967	C C	CGGGGCGG others(23): Show CGGGGCGGGGCGGGGCGGGGCGGGGGTTCTG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0001	a0001c0024t0001g0078 a0001c0024t0001g0078	1	342	0.0029	30	c.158 others(47): Show c.1583+142_1583+143insCAGAACCCCCGCCCCGCCCCGCCCCGCC CC		CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20						chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735973	G G	GGGGCGGG others(23): Show GGGGCGGGGCGGGGCGGTGGTTCTGCGGGCA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG03492.hp1 HG01261.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0128 a0001c0001t0001g0086 a0001c0001t0001g0128	2	342	0.0059	30	c.158 others(47): Show c.1583+136_1583+137insTGCCCGCAGAACCACCGCCCCGCCCCGC CC		CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20						chr19	TogoVar
CAPN14_chr2_31168056_31222515	31210460	C C	CATAAAAT others(23): Show CATAAAATAAAATAAAATAAAATAAAATAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 NA20129.hp2 HG02647.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0036 a0002c0002 a0001c0036 a0002c0002	a0001c0036t0004 a0002c0002t0012 a0001c0036t0004 a0002c0002t0012	a0001c0036t0004g0293 a0002c0002t0012g0283 a0001c0036t0004g0293 a0002c0002t0012g0283	2	326	0.0061	30	c.-52 others(47): Show c.-52-4991_-52-4962dupTTTATTTTATTTTATTTTATTTTATTTT AT		CAPN14	ENSG00000214711.10	transcript	ENST00000403897.4	protein_coding	1/21						chr2	TogoVar
CAPN3_chr15_42354501_42417317	42380728	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0264	1	306	0.0033	30	c.310 others(47): Show c.310-3731_310-3730insATATATATATATATATATATATATATAT AT		CAPN3	ENSG00000092529.26	transcript	ENST00000397163.8	protein_coding	1/23					INFO_REALIGN_3_PRIME	chr15	TogoVar
CAPZA1_chr1_112614832_112676616	112638897	C C	CATAGATA others(23): Show CATAGATATAGATATAGATATAGATATAGAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03130.hp1 HG03041.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0118 a0001c0002t0002g0300 a0001c0001t0001g0118 a0001c0002t0002g0300	2	368	0.0054	30	c.40- others(45): Show c.40-8302_40-8273dupATATAGATATAGATATAGATATAGATATAG		CAPZA1	ENSG00000116489.13	transcript	ENST00000263168.4	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPZA1_chr1_112614832_112676616	112638926	A A	ATATAGAT others(23): Show ATATAGATATAGATATAGATATAGATATAGC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0258 a0001c0003t0009g0258	1	368	0.0027	30	c.40- others(45): Show c.40-8273_40-8272insATATAGATATAGATATAGCTATAGATATAG		CAPZA1	ENSG00000116489.13	transcript	ENST00000263168.4	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPZB_chr1_19333775_19490539	19366283	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18995.hp2 NA19004.hp2 HG00558.hp1 NA18995.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0128 a0001c0001t0001g0232 a0001c0001t0001g0067 a0001c0001t0001g0128 a0001c0001t0001g0232	3	364	0.0082	30	c.330 others(47): Show c.330-8721_330-8720insATATATATATATATATATATATATATAT AT		CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	4/8						chr1	TogoVar
CAPZB_chr1_19333775_19490539	19416860	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0303 a0001c0001t0001g0303	1	364	0.0028	30	c.93+ others(45): Show c.93+2800_93+2801insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	2/8						chr1	TogoVar
CARD11_chr7_2901142_3048867	3016384	T T	TCATCCTC others(23): Show TCATCCTCATTGCTATACTCCCACCAGTGCC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19043.hp1 NA19030.hp1 NA19043.hp1	a0001 a0001	a0001c0013 a0001c0037 a0001c0013 a0001c0037	a0001c0013t0001 a0001c0037t0001 a0001c0013t0001 a0001c0037t0001	a0001c0013t0001g0217 a0001c0037t0001g0271 a0001c0013t0001g0217 a0001c0037t0001g0271	2	322	0.0062	30	c.-12 others(51): Show c.-126+27253_-126+27282dupGGCACTGGTGGGAGTATAGCAATG AGGATG		CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	1/24						chr7	TogoVar
CARD11_chr7_2901142_3048867	3022935	A A	AATATTTA others(23): Show AATATTTATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0275 a0001c0008t0001g0275	1	322	0.0031	30	c.-12 others(51): Show c.-126+20731_-126+20732insATATATATATATATATATATATAT AAATAT		CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	1/24						chr7	TogoVar
CARD11_chr7_2901142_3048867	3022938	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0062 a0001c0008t0001g0062	1	322	0.0031	30	c.-12 others(51): Show c.-126+20728_-126+20729insTATATATATATATATATATATATA TATATA		CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	1/24						chr7	TogoVar
CARD14_chr17_80165030_80214331	80165033	C C	CATTTTAT others(23): Show CATTTTATTTTATTTTATTTTATTTTATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG02602.hp2 HG02896.hp2 others(7): Show HG00741.hp2 HG02602.hp2 HG02896.hp2 HG02897.hp1 HG03195.hp1 HG03225.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG04184.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0006 a0003c0010 others(2): Show a0001c0001 a0003c0006 a0003c0010 a0003c0029 a0004c0003	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0003c0006t0008 a0003c0010t0005 a0003c0029t0007 a0004c0003t0001	a0001c0001t0002g0025 a0001c0001t0002g0363 a0001c0001t0004g0026 others(7): Show a0001c0001t0002g0025 a0001c0001t0002g0363 a0001c0001t0004g0026 a0001c0001t0005g0061 a0001c0001t0005g0062 a0001c0001t0005g0155 a0003c0006t0008g0299 a0003c0010t0005g0055 a0003c0029t0007g0087 a0004c0003t0001g0030	10	376	0.0266	30	c.-57 others(41): Show c.-5713_-5712insATTTTATTTTATTTTATTTTATTTTATTTT		CARD14	ENSG00000141527.19	transcript	ENST00000648509.2	protein_coding					4996		chr17	TogoVar
CARD19_chr9_93091217_93118283	93115824	G G	GAGACGGG others(23): Show GAGACGGGGTGAGGGAGGGGTGGGGGTGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0022 a0001c0002t0003g0022	1	358	0.0028	30	c.27 others(41): Show c.2717_*2718insAGACGGGGTGAGGGAGGGGTGGGGGTGAGA		CARD19	ENSG00000165233.18	transcript	ENST00000375464.7	protein_coding					2542		chr9	TogoVar
CARMIL1_chr6_25274374_25625530	25450912	T T	TTCTCTTC others(23): Show TTCTCTTCTCCTCTCCTCTCCTCTCCTCTCC	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18956.hp2 NA18945.hp1 NA18956.hp2	a0001 a0001	a0001c0006 a0001c0008 a0001c0006 a0001c0008	a0001c0006t0002 a0001c0008t0001 a0001c0006t0002 a0001c0008t0001	a0001c0006t0002g0106 a0001c0008t0001g0003 a0001c0006t0002g0106 a0001c0008t0001g0003	2	186	0.0108	30	c.614 others(45): Show c.614+205_614+206insTTCTCCTCTCCTCTCCTCTCCTCTCCTCTC		CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36					INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25459242	C C	CTTTCTTT others(23): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG03209.hp2 HG02083.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0032 a0001c0001 a0001c0032	a0001c0001t0021 a0001c0032t0011 a0001c0001t0021 a0001c0032t0011	a0001c0001t0021g0163 a0001c0032t0011g0097 a0001c0001t0021g0163 a0001c0032t0011g0097	2	186	0.0108	30	c.615 others(47): Show c.615-6604_615-6603insCTTTTTCTTTCTTTCTTTCTTTCTTTCT TT		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(23): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02055.hp2 NA19007.hp2 HG00438.hp2 HG02055.hp2 NA19007.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0006 a0002c0007 a0003c0017 a0001c0006 a0002c0007 a0003c0017	a0001c0006t0002 a0002c0007t0006 a0003c0017t0007 a0001c0006t0002 a0002c0007t0006 a0003c0017t0007	a0001c0006t0002g0074 a0002c0007t0006g0091 a0003c0017t0007g0153 a0001c0006t0002g0074 a0002c0007t0006g0091 a0003c0017t0007g0153	3	186	0.0161	30	c.615 others(47): Show c.615-6604_615-6603insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CT		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(23): Show CTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0052 a0002c0004t0001g0052	1	372	0.0027	30	c.105 others(49): Show c.1054+1102_1054+1103insAAAAAAAAAAAAAAAAAAAAAAAAAA AACA		CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	10/14						chr13	TogoVar
CARS2_chr13_110636417_110711116	110679573	G G	GAGAAAGA others(23): Show GAGAAAGAAAGAAAGAAAGAAAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0002 a0004c0012t0002	a0004c0012t0002g0264 a0004c0012t0002g0264	1	372	0.0027	30	c.656 others(47): Show c.656-2471_656-2470insTTCTCTCTCTTTCTTTCTTTCTTTCTTT CT		CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	6/14						chr13	TogoVar
CARS2_chr13_110636417_110711116	110679573	G G	GAGAAAGA others(23): Show GAGAAAGAAAGAAAGAAAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01069.hp1 HG01167.hp1 others(5): Show HG00738.hp1 HG01069.hp1 HG01167.hp1 HG01169.hp1 HG01255.hp1 HG01257.hp1 HG01496.hp2 HG01952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0072 a0001c0002t0001g0180 others(3): Show a0001c0002t0001g0004 a0001c0002t0001g0072 a0001c0002t0001g0180 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0212	8	372	0.0215	30	c.656 others(47): Show c.656-2471_656-2470insTTCTCTCTCTCTCTTTCTTTCTTTCTTT CT		CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	6/14						chr13	TogoVar
CARS2_chr13_110636417_110711116	110679573	G G	GAGAAAGA others(23): Show GAGAAAGAAAGAAAGAGAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0196 a0001c0002t0001g0196	1	372	0.0027	30	c.656 others(47): Show c.656-2471_656-2470insTTCTCTCTCTCTCTCTCTTTCTTTCTTT CT		CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	6/14						chr13	TogoVar
CASKIN2_chr17_75495261_75520537	75502569	G G	GCGTCCTG others(23): Show GCGTCCTGGCCGCCGGGTAAGGGTAGCATAA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02698.hp2 HG02698.hp2	a0018 a0018	a0018c0033 a0018c0033	a0018c0033t0001 a0018c0033t0001	a0018c0033t0001g0135 a0018c0033t0001g0135	1	414	0.0024	30	c.247 others(39): Show c.2475_2504dupTTATGCTACCCTTACCCGGCGGCCAGGACG	p.Arg others(43): Show p.Arg835_Ser836insTyrAlaThrLeuThrArgArgProGlyArg	CASKIN2	ENSG00000177303.10	transcript	ENST00000321617.8	protein_coding	18/20	3045/4969	2504/3609	835/1202			chr17	TogoVar
CASK_chrX_41509934_41928554	41829696	G G	GATAGATA others(23): Show GATAGATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	164	0.0061	30	c.172 others(49): Show c.172+23418_172+23419insATATATATATATATATATATATATAT CTAT		CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	2/26						chrX	TogoVar
CASP3_chr4_184622696_184654447	184624568	T T	TCCACAGC others(23): Show TCCACAGCCTCCATCACTGACCTGTTTCTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0114 a0001c0001t0016g0114	1	366	0.0027	30	c.47 others(41): Show c.4703_*4704insTCAGAAACAGGTCAGTGATGGAGGCTGTGG		CASP3	ENSG00000164305.20	transcript	ENST00000308394.9	protein_coding					3127		chr4	TogoVar
CASP3_chr4_184622696_184654447	184651290	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG03139.hp1 HG02809.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0013 a0001c0001t0004 a0001c0001t0013	a0001c0001t0004g0054 a0001c0001t0013g0223 a0001c0001t0004g0054 a0001c0001t0013g0223	2	366	0.0055	30	c.-20 others(41): Show c.-2079_-2078insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		CASP3	ENSG00000164305.20	transcript	ENST00000308394.9	protein_coding					1844		chr4	TogoVar
CASQ1_chr1_160185575_160206886	160186086	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	440	0.0023	30	c.-46 others(41): Show c.-4666_-4665insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		CASQ1	ENSG00000143318.13	transcript	ENST00000368078.8	protein_coding					4488		chr1	TogoVar
CASQ1_chr1_160185575_160206886	160202470	G G	GTGTCCAC others(23): Show GTGTCCACAGGGTCTGACACTCAAAAGTTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	440	0.0023	30	c.10 others(41): Show c.1094_*1095insTGTCCACAGGGTCTGACACTCAAAAGTTGT		CASQ1	ENSG00000143318.13	transcript	ENST00000368078.8	protein_coding					585		chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761429	G G	GGGCAACA others(23): Show GGGCAACAGAATAAGACTCAGTCAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02622.hp2 HG02723.hp2 others(2): Show HG02257.hp1 HG02622.hp2 HG02723.hp2 HG02922.hp2 HG03139.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0007 a0002c0004t0011 a0002c0004t0018 a0002c0003t0007 a0002c0004t0011 a0002c0004t0018	a0002c0003t0007g0012 a0002c0003t0007g0014 a0002c0003t0007g0017 others(2): Show a0002c0003t0007g0012 a0002c0003t0007g0014 a0002c0003t0007g0017 a0002c0004t0011g0013 a0002c0004t0018g0016	5	364	0.0137	30	c.234 others(47): Show c.234+6878_234+6879insTTTTTTTTGACTGAGTCTTATTCTGTTG CC		CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10						chr1	TogoVar
CASTOR2_chr7_74959705_75036528	74965882	A A	ACACACAC others(23): Show ACACACACACACACACACTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0057 a0001c0001t0003g0057	1	228	0.0044	30	c.113 others(45): Show c.113+785_113+786insACACACACACACACACTCTCTCTCTCTCTC		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(23): Show ACACACACACACACACTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0226 a0001c0001t0009g0226	1	228	0.0044	30	c.113 others(45): Show c.113+785_113+786insACACACACACACACTCTCTCTCTCTCTCTC		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(23): Show ACACACACACTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0223 a0001c0001t0004g0223	1	228	0.0044	30	c.113 others(45): Show c.113+785_113+786insACACACACTCTCTCTCTCTCTCTCTCTCTC		CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr7	TogoVar
CAST_chr5_96657376_96779683	96736851	G G	GTTATAAA others(23): Show GTTATAAAGAACTTCCCTGAGACTGGGTAAT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0065	1	358	0.0028	30	c.699 others(45): Show c.699+622_699+651dupCTTCCCTGAGACTGGGTAATTTATAAAGAA		CAST	ENSG00000153113.24	transcript	ENST00000675179.1	protein_coding	10/31					INFO_REALIGN_3_PRIME	chr5	TogoVar
CATSPER4_chr1_26185602_26207964	26207777	A A	AAGAAAGA others(23): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0167 a0001c0001t0002g0167	1	398	0.0025	30	c.52 others(41): Show c.5235_*5236insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG		CATSPER4	ENSG00000188782.9	transcript	ENST00000456354.7	protein_coding					4814		chr1	TogoVar
CATSPERB_chr14_91575698_91737086	91661524	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02630.hp2 HG02895.hp1 others(1): Show HG02615.hp2 HG02630.hp2 HG02895.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0001g0123 others(1): Show a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124	4	271	0.0148	30	c.128 others(49): Show c.1288-1544_1288-1543insATATATATATATATATATATATATAT ATAT		CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	14/26						chr14	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(23): Show ATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02135.hp1 HG01346.hp2 HG02135.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0102 a0002c0002t0001g0298 a0001c0001t0001g0102 a0002c0002t0001g0298	2	336	0.0060	30	c.142 others(49): Show c.1428-1156_1428-1155insATATATATATATATATATATATTTTT TTTT		CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21					INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5763847	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03492.hp2 HG02055.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0166 a0001c0001t0002g0059 a0001c0001t0001g0166 a0001c0001t0002g0059	2	336	0.0060	30	c.150 others(47): Show c.1506+572_1506+573insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT		CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	16/21					INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERE_chr1_244456273_244645504	244625432	A A	ATATATAT others(23): Show ATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0011 a0011	a0011c0017 a0011c0017	a0011c0017t0001 a0011c0017t0001	a0011c0017t0001g0145 a0011c0017t0001g0145	1	206	0.0049	30	c.264 others(49): Show c.2648+7747_2648+7748insATATATATATATATTTTTTTTTTTTT TTTT		CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21					INFO_REALIGN_3_PRIME	chr1	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(23): Show ATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02273.hp1 NA19055.hp2 HG02273.hp1 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0191 a0001c0001t0003g0284 a0001c0001t0002g0191 a0001c0001t0003g0284	2	342	0.0059	30	c.195 others(47): Show c.195+7707_195+7708insATATATATATATATATATATATTTTTTT TT		CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(23): Show ATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 NA18955.hp2 NA18999.hp1 HG01069.hp2 NA18955.hp2 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0016 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0001g0016 a0001c0001t0003g0289 a0001c0001t0003g0290	3	342	0.0088	30	c.195 others(47): Show c.195+7707_195+7708insATATATATATATATATATATTTTTTTTT TT		CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(23): Show ATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03098.hp1 NA19090.hp2 HG00735.hp2 HG03098.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0309 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0309	3	342	0.0088	30	c.195 others(47): Show c.195+7707_195+7708insATATATATATATATATTTTTTTTTTTTT TT		CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(23): Show ATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02602.hp2 HG01496.hp1 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0220 a0001c0001t0002g0221	2	342	0.0059	30	c.195 others(47): Show c.195+7707_195+7708insATATATATATATATTTTTTTTTTTTTTT TT		CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr7	TogoVar

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