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
CAMK4_chr5_111219384_111499886	111273708	TATATATA others(9): Show TATATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03195.hp1 HG03225.hp1 others(1): Show HG02622.hp1 HG03195.hp1 HG03225.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0011 a0001c0001t0156 others(1): Show a0001c0001t0010 a0001c0001t0011 a0001c0001t0156 a0001c0001t0171	a0001c0001t0010g0212 a0001c0001t0011g0213 a0001c0001t0156g0208 others(1): Show a0001c0001t0010g0212 a0001c0001t0011g0213 a0001c0001t0156g0208 a0001c0001t0171g0211	4	246	0.0163	-16	c.161 others(35): Show c.161+49066_161+49081delTATATATATACACACA	CAMK4	ENSG00000152495.11	transcript	ENST00000282356.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAMK4_chr5_111219384_111499886	111273710	TATATATA others(9): Show TATATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0170 a0001c0001t0170	a0001c0001t0170g0235 a0001c0001t0170g0235	1	246	0.0041	-16	c.161 others(35): Show c.161+49070_161+49085delTATATACACACACATA	CAMK4	ENSG00000152495.11	transcript	ENST00000282356.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAMK4_chr5_111219384_111499886	111443267	TATATATA others(9): Show TATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02886.hp1 HG01891.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0089 a0001c0001t0121 a0001c0001t0089 a0001c0001t0121	a0001c0001t0089g0182 a0001c0001t0121g0030 a0001c0001t0089g0182 a0001c0001t0121g0030	2	246	0.0081	-16	c.460 others(33): Show c.460-3417_460-3402delTATATATATATACACA	CAMK4	ENSG00000152495.11	transcript	ENST00000282356.9	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAMK4_chr5_111219384_111499886	111443271	TATATATA others(9): Show TATATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG03516.hp1 NA20129.hp2 HG00558.hp2 HG03516.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0011 a0001c0001t0131 a0001c0002t0001 a0001c0001t0011 a0001c0001t0131 a0001c0002t0001	a0001c0001t0011g0168 a0001c0001t0131g0034 a0001c0002t0001g0123 a0001c0001t0011g0168 a0001c0001t0131g0034 a0001c0002t0001g0123	3	246	0.0122	-16	c.460 others(33): Show c.460-3413_460-3398delTATATATACACACACA	CAMK4	ENSG00000152495.11	transcript	ENST00000282356.9	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAMK4_chr5_111219384_111499886	111443275	TATATACA others(9): Show TATATACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02622.hp2 HG02717.hp2 others(3): Show HG02055.hp1 HG02622.hp2 HG02717.hp2 HG02818.hp1 HG03139.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0013 a0001c0001t0161 a0001c0001t0162 others(3): Show a0001c0001t0013 a0001c0001t0161 a0001c0001t0162 a0001c0001t0165 a0001c0001t0167 a0001c0004t0158	a0001c0001t0013g0139 a0001c0001t0161g0040 a0001c0001t0162g0166 others(3): Show a0001c0001t0013g0139 a0001c0001t0161g0040 a0001c0001t0162g0166 a0001c0001t0165g0039 a0001c0001t0167g0052 a0001c0004t0158g0236	6	246	0.0244	-16	c.460 others(33): Show c.460-3409_460-3394delTATACACACACACACA	CAMK4	ENSG00000152495.11	transcript	ENST00000282356.9	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAMK4_chr5_111219384_111499886	111486500	AACACACA others(9): Show AACACACACACACACAC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0145 a0001c0002t0145	a0001c0002t0145g0012 a0001c0002t0145g0012	1	246	0.0041	-16	c.20 others(27): Show c.2061_*2076delACACACACACACACAC	CAMK4	ENSG00000152495.11	transcript	ENST00000282356.9	protein_coding	11/11	2061	INFO_REALIGN_3_PRIME	chr5	TogoVar
CAMKK2_chr12_121232692_121301709	121242351	AAAAGAAA others(9): Show AAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA19240.hp1 HG02258.hp1 NA19240.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0124 a0001c0007t0002g0125 a0001c0007t0002g0124 a0001c0007t0002g0125	2	330	0.0061	-16	c.159 others(35): Show c.1597-1498_1597-1483delCTTTCTTTCTTTCTTT	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	16/16			chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121249941	GGACGGCG others(9): Show GGACGGCGGGAGATACT	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	330	0.0030	-16	c.123 others(30): Show c.1235+4_1235+19delAGTATCTCCCGCCGTC	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	12/16			chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121255206	TTATATAT others(9): Show TTATATATATAATTTTA	T T	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0019 a0003c0003t0019	a0003c0003t0019g0317 a0003c0003t0019g0317	1	330	0.0030	-16	c.907 others(31): Show c.907+328_907+343delTAAAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAMKMT_chr2_44356947_44777592	44400928	GTGTATAT others(9): Show GTGTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01109.hp1 HG01192.hp2 others(11): Show HG00741.hp2 HG01109.hp1 HG01192.hp2 HG02015.hp1 HG02258.hp2 HG02602.hp1 HG02683.hp1 HG02698.hp1 HG03017.hp2 HG03490.hp1 HG03704.hp2 HG03927.hp1 NA18522.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0171 others(11): Show a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0192 a0001c0001t0002g0173	14	198	0.0707	-16	c.376 others(35): Show c.376+10625_376+10640delGTATATATATATATAT	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44439786	AAAATAAA others(9): Show AAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01106.hp2 HG01109.hp1 others(34): Show HG00741.hp2 HG01106.hp2 HG01109.hp1 HG01192.hp2 HG01258.hp2 HG01884.hp2 HG01891.hp1 HG02015.hp1 HG02109.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG02970.hp1 HG03017.hp2 HG03041.hp2 HG03139.hp1 HG03225.hp1 HG03239.hp2 HG03490.hp1 HG03704.hp2 HG03927.hp1 NA18522.hp1 NA19030.hp1 NA19054.hp1 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 others(34): Show a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0105 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0127 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0192 a0001c0001t0002g0042 a0001c0001t0002g0047 a0001c0001t0002g0170 a0001c0001t0002g0173 a0001c0001t0002g0181 a0001c0001t0003g0038 a0001c0001t0003g0117 a0001c0001t0003g0165 a0001c0001t0003g0169 a0001c0001t0006g0160	37	198	0.1869	-16	c.376 others(35): Show c.376+49508_376+49523delATAAATAAATAAATAA	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44445645	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02717.hp1 HG02895.hp2 others(8): Show HG02647.hp2 HG02717.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp2 NA19030.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0015 others(8): Show a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0103 a0001c0001t0002g0006 a0001c0001t0003g0007 a0001c0001t0003g0102 a0001c0001t0005g0005 a0001c0001t0005g0009 a0001c0001t0005g0010 a0001c0001t0005g0012	11	198	0.0556	-16	c.376 others(35): Show c.376+55373_376+55388delTTTTTTTTTTTTTTTT	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44505842	CTTTATTT others(9): Show CTTTATTTATTTATTTA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00423.hp2 others(124): Show HG00280.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00621.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01258.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02145.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp2 NA18942.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18952.hp1 NA18957.hp2 NA18960.hp2 NA18964.hp1 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18993.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19074.hp1 NA19084.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0003t0001 a0001c0004t0003	a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0018 others(124): Show a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0002g0006 a0001c0001t0002g0011 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0029 a0001c0001t0002g0042 a0001c0001t0002g0047 a0001c0001t0002g0078 a0001c0001t0002g0082 a0001c0001t0002g0099 a0001c0001t0002g0109 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0181 a0001c0001t0002g0189 a0001c0001t0003g0092 a0001c0001t0003g0104 a0001c0001t0003g0169 a0001c0001t0004g0030 a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0001t0006g0160 a0001c0001t0007g0070 a0001c0001t0007g0101 a0001c0002t0001g0053 a0001c0002t0002g0028 a0001c0002t0006g0107 a0001c0003t0001g0003 a0001c0004t0003g0063	127	198	0.6414	-16	c.376 others(37): Show c.376+115565_376+115580delATTTATTTATTTATTT	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44542525	ACACACAC others(9): Show ACACACACACACACTCT	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0006 a0001c0002t0001 a0001c0002t0006	a0001c0002t0001g0053 a0001c0002t0006g0107 a0001c0002t0001g0053 a0001c0002t0006g0107	2	198	0.0101	-16	c.376 others(37): Show c.376+152222_376+152237delACACACACACACTCTC	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44542527	ACACACAC others(9): Show ACACACACACACTCTCT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA20129.hp2 NA20300.hp1 HG02886.hp1 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0054 a0001c0001t0001g0115 a0001c0001t0002g0112 a0001c0001t0001g0054 a0001c0001t0001g0115 a0001c0001t0002g0112	3	198	0.0152	-16	c.376 others(37): Show c.376+152224_376+152239delACACACACACTCTCTC	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44542529	ACACACAC others(9): Show ACACACACACTCTCTCT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	198	0.0051	-16	c.376 others(37): Show c.376+152226_376+152241delACACACACTCTCTCTC	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44546154	GACACACA others(9): Show GACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	198	0.0051	-16	c.376 others(37): Show c.376+155883_376+155898delCACACACACACACACA	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44670135	TACAATTA others(9): Show TACAATTATCTTCTCCC	T T	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	198	0.0051	-16	c.377 others(35): Show c.377-34146_377-34131delCAATTATCTTCTCCCA	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44673508	AGGAAGGA others(9): Show AGGAAGGAAGGAAGGAG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01192.hp2 HG01243.hp1 others(23): Show HG01081.hp2 HG01192.hp2 HG01243.hp1 HG01891.hp2 HG01934.hp1 HG01975.hp2 HG02015.hp1 HG02523.hp1 HG02572.hp2 HG02602.hp1 HG02647.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG03130.hp1 HG03139.hp2 HG03579.hp1 HG06807.hp2 NA18522.hp2 NA18942.hp1 NA18946.hp1 NA18999.hp1 NA19000.hp2 NA19030.hp2 NA19063.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0002t0001 a0001c0002t0006	a0001c0001t0001g0065 a0001c0001t0001g0072 a0001c0001t0001g0089 others(23): Show a0001c0001t0001g0065 a0001c0001t0001g0072 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0124 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0159 a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0002g0001 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0112 a0001c0001t0005g0005 a0001c0001t0005g0009 a0001c0001t0005g0010 a0001c0001t0005g0012 a0001c0001t0007g0101 a0001c0002t0001g0053 a0001c0002t0006g0107	26	198	0.1313	-16	c.377 others(35): Show c.377-30765_377-30750delGAAGGAGGGAAGGAAG	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44723591	AATAAATA others(9): Show AATAAATAAATACATAC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0160 a0001c0001t0006g0160	1	198	0.0051	-16	c.623 others(33): Show c.623+8250_623+8265delCATACATAAATAAATA	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44723603	CATACATA others(9): Show CATACATAAATAAATAA	C C	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	198	0.0051	-16	c.623 others(33): Show c.623+8254_623+8269delCATAAATAAATAAATA	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44723607	CATAAATA others(9): Show CATAAATAAATAAATAA	C C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	198	0.0051	-16	c.623 others(33): Show c.623+8288_623+8303delTAAATAAATAAATAAA	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44723642	AAATAAAT others(9): Show AAATAAATAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03516.hp1 NA18522.hp1 HG02258.hp2 HG03516.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0004 a0001c0001t0001g0119 a0001c0001t0001g0120	3	198	0.0152	-16	c.623 others(33): Show c.623+8296_623+8311delTAAATAAAATAATAAA	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMSAP2_chr1_200733893_200865704	200736164	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp1 NA19087.hp1 NA18747.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0340 a0001c0001t0001g0342 a0001c0001t0001g0340 a0001c0001t0001g0342	2	366	0.0055	-16	c.-36 others(27): Show c.-3663_-3648delTTTTTTTTTTTTTTTT	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding		2728		chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200806765	GTATCTAT others(9): Show GTATCTATCTATCTATC	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01069.hp1 HG01071.hp2 others(2): Show HG00438.hp1 HG01069.hp1 HG01071.hp2 NA18955.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0203 a0001c0001t0001g0235 a0001c0001t0001g0321 others(2): Show a0001c0001t0001g0203 a0001c0001t0001g0235 a0001c0001t0001g0321 a0001c0001t0003g0058 a0001c0001t0003g0062	5	366	0.0137	-16	c.400 others(31): Show c.400-575_400-560delCTATCTATCTATCTAT	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200817161	CACACGTG others(9): Show CACACGTGTGTGTATAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00609.hp1 others(91): Show HG00099.hp2 HG00423.hp2 HG00609.hp1 HG01081.hp1 HG01243.hp1 HG01255.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp2 HG02129.hp2 HG02155.hp1 HG02165.hp1 HG02273.hp1 HG02293.hp2 HG02300.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp2 HG03017.hp2 HG03130.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03579.hp2 HG03704.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG04228.hp2 NA18612.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18944.hp2 NA18945.hp2 NA18947.hp2 NA18949.hp1 NA18950.hp2 NA18952.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp1 NA18969.hp1 NA18970.hp2 NA18972.hp2 NA18973.hp1 NA18974.hp2 NA18977.hp2 NA18979.hp2 NA18981.hp2 NA18986.hp2 NA18991.hp2 NA18994.hp1 NA18998.hp1 NA19003.hp2 NA19004.hp1 NA19011.hp2 NA19057.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19064.hp2 NA19068.hp2 NA19080.hp2 NA19081.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp1 NA20129.hp2 NA20905.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0011 others(1): Show a0001c0001 a0001c0002 a0001c0011 a0005c0010	a0001c0001t0003 a0001c0001t0008 a0001c0001t0012 others(9): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0012 a0001c0002t0002 a0001c0002t0010 a0001c0002t0011 a0001c0002t0015 a0001c0002t0018 a0001c0002t0019 a0001c0002t0020 a0001c0011t0002 a0005c0010t0002	a0001c0001t0003g0075 a0001c0001t0008g0028 a0001c0001t0012g0003 others(91): Show a0001c0001t0003g0075 a0001c0001t0008g0028 a0001c0001t0012g0003 a0001c0001t0012g0004 a0001c0002t0002g0030 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0104 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0109 a0001c0002t0002g0112 a0001c0002t0002g0115 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0119 a0001c0002t0002g0121 a0001c0002t0002g0122 a0001c0002t0002g0123 a0001c0002t0002g0124 a0001c0002t0002g0125 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0002g0129 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0002g0133 a0001c0002t0002g0134 a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0002t0002g0138 a0001c0002t0002g0140 a0001c0002t0002g0141 a0001c0002t0002g0142 a0001c0002t0002g0143 a0001c0002t0002g0144 a0001c0002t0002g0145 a0001c0002t0002g0146 a0001c0002t0002g0147 a0001c0002t0002g0148 a0001c0002t0002g0149 a0001c0002t0002g0151 a0001c0002t0002g0152 a0001c0002t0002g0154 a0001c0002t0002g0155 a0001c0002t0002g0156 a0001c0002t0002g0157 a0001c0002t0002g0158 a0001c0002t0002g0159 a0001c0002t0002g0160 a0001c0002t0002g0161 a0001c0002t0002g0162 a0001c0002t0002g0163 a0001c0002t0002g0164 a0001c0002t0002g0165 a0001c0002t0002g0166 a0001c0002t0002g0167 a0001c0002t0002g0168 a0001c0002t0002g0169 a0001c0002t0002g0170 a0001c0002t0002g0171 a0001c0002t0002g0173 a0001c0002t0002g0174 a0001c0002t0002g0175 a0001c0002t0002g0176 a0001c0002t0002g0177 a0001c0002t0002g0178 a0001c0002t0002g0179 a0001c0002t0002g0180 a0001c0002t0002g0181 a0001c0002t0002g0182 a0001c0002t0002g0186 a0001c0002t0002g0187 a0001c0002t0002g0188 a0001c0002t0002g0189 a0001c0002t0002g0190 a0001c0002t0010g0105 a0001c0002t0010g0113 a0001c0002t0010g0114 a0001c0002t0011g0118 a0001c0002t0011g0120 a0001c0002t0015g0110 a0001c0002t0018g0150 a0001c0002t0019g0153 a0001c0002t0020g0172 a0001c0011t0002g0100 a0005c0010t0002g0108	94	366	0.2568	-16	c.645 others(33): Show c.645+1522_645+1537delGTGTGTGTATATACAC	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMSAP3_chr19_7590863_7623304	7599775	TCATCCAC others(9): Show TCATCCACCCGCCCATC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp1 HG02717.hp1 others(7): Show HG02109.hp2 HG02145.hp1 HG02717.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03453.hp1 HG03486.hp2 NA18906.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 a0001c0001t0001 a0001c0002t0001 a0001c0006t0001	a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 others(6): Show a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0002t0001g0080 a0001c0006t0001g0010 a0001c0006t0001g0078	10	358	0.0279	-16	c.148 others(33): Show c.148+3651_148+3666delGCCCATCCATCCACCC	CAMSAP3	ENSG00000076826.10	transcript	ENST00000160298.9	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
CAMTA1_chr1_6780454_7774706	6899548	GCGCGCGC others(9): Show GCGCGCGCACACACACA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA20300.hp1 HG02280.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0002t0001 a0001c0001t0012 a0001c0002t0001	a0001c0001t0012g0019 a0001c0002t0001g0020 a0001c0001t0012g0019 a0001c0002t0001g0020	2	58	0.0345	-16	c.234 others(35): Show c.234+74340_234+74355delGCGCGCACACACACAC	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	6926438	CTCTTTCT others(9): Show CTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02280.hp1 NA18999.hp1 others(1): Show HG02004.hp2 HG02280.hp1 NA18999.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0003 a0001c0001t0012 a0001c0002t0001 others(1): Show a0001c0001t0003 a0001c0001t0012 a0001c0002t0001 a0002c0004t0017	a0001c0001t0003g0048 a0001c0001t0012g0019 a0001c0002t0001g0020 others(1): Show a0001c0001t0003g0048 a0001c0001t0012g0019 a0001c0002t0001g0020 a0002c0004t0017g0042	4	58	0.0690	-16	c.234 others(37): Show c.234+101264_234+101279delTTCTTTCTTTCTTTCT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7102023	AACACACA others(9): Show AACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02630.hp1 HG02723.hp1 others(2): Show HG01884.hp1 HG02630.hp1 HG02723.hp1 HG03041.hp2 HG03486.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0005 a0005c0013 a0001c0001 a0001c0005 a0005c0013	a0001c0001t0004 a0001c0001t0013 a0001c0001t0020 others(2): Show a0001c0001t0004 a0001c0001t0013 a0001c0001t0020 a0001c0005t0009 a0005c0013t0009	a0001c0001t0004g0026 a0001c0001t0013g0056 a0001c0001t0020g0049 others(2): Show a0001c0001t0004g0026 a0001c0001t0013g0056 a0001c0001t0020g0049 a0001c0005t0009g0050 a0005c0013t0009g0033	5	58	0.0862	-16	c.302 others(35): Show c.302+10684_302+10699delCACACACACACACACA	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7276289	ATATATAT others(9): Show ATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03041.hp2 HG03130.hp2 others(3): Show HG02055.hp2 HG03041.hp2 HG03130.hp2 HG03225.hp1 HG03688.hp2 NA19043.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0001c0016 others(1): Show a0001c0001 a0001c0003 a0001c0016 a0005c0013	a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 a0001c0003t0023 a0001c0016t0024 a0005c0013t0009	a0001c0001t0001g0024 a0001c0001t0005g0038 a0001c0001t0011g0058 others(3): Show a0001c0001t0001g0024 a0001c0001t0005g0038 a0001c0001t0011g0058 a0001c0003t0023g0045 a0001c0016t0024g0053 a0005c0013t0009g0033	6	58	0.1035	-16	c.438 others(35): Show c.438+26665_438+26680delATATATATATATATTT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7310700	CTCTTTCT others(9): Show CTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	58	0.0172	-16	c.438 others(35): Show c.438+61104_438+61119delCTTTCTTTCTTTCTTT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7371239	TTTTGTTT others(9): Show TTTTGTTTGTTTGTTTG	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00735.hp1 HG01243.hp2 others(34): Show HG00558.hp1 HG00735.hp1 HG01243.hp2 HG01884.hp1 HG02004.hp2 HG02055.hp1 HG02132.hp1 HG02132.hp2 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02523.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02723.hp2 HG02922.hp1 HG02922.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03486.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 NA18999.hp2 NA19043.hp1 NA20300.hp1 NA20805.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0008	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0009 a0001c0017 a0002c0004 a0003c0012 a0004c0014 a0006c0007 a0008c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0021 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0010 a0001c0003t0001 a0001c0003t0008 a0001c0003t0010 a0001c0003t0023 a0001c0005t0005 a0001c0005t0009 a0001c0006t0001 a0001c0006t0005 a0001c0009t0019 a0001c0017t0026 a0002c0004t0017 a0003c0012t0022 a0004c0014t0001 a0006c0007t0014 a0008c0011t0016	a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0024 others(34): Show a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0024 a0001c0001t0001g0040 a0001c0001t0002g0001 a0001c0001t0002g0009 a0001c0001t0002g0036 a0001c0001t0003g0047 a0001c0001t0004g0034 a0001c0001t0005g0038 a0001c0001t0008g0003 a0001c0001t0011g0058 a0001c0001t0012g0019 a0001c0001t0013g0054 a0001c0001t0013g0056 a0001c0001t0015g0037 a0001c0001t0021g0014 a0001c0002t0001g0020 a0001c0002t0003g0025 a0001c0002t0004g0030 a0001c0002t0006g0008 a0001c0002t0010g0010 a0001c0003t0001g0012 a0001c0003t0008g0032 a0001c0003t0010g0035 a0001c0003t0023g0045 a0001c0005t0005g0044 a0001c0005t0009g0050 a0001c0006t0001g0055 a0001c0006t0005g0057 a0001c0009t0019g0039 a0001c0017t0026g0027 a0002c0004t0017g0042 a0003c0012t0022g0017 a0004c0014t0001g0041 a0006c0007t0014g0018 a0008c0011t0016g0029	37	58	0.6379	-16	c.439 others(35): Show c.439-96571_439-96556delGTTTGTTTGTTTGTTT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7382830	TGATAGAT others(9): Show TGATAGATAGATAGATA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01496.hp1 HG01496.hp2 others(7): Show HG00558.hp2 HG01496.hp1 HG01496.hp2 HG02004.hp1 HG02055.hp2 HG02280.hp2 HG02451.hp2 HG02523.hp1 HG03041.hp2 NA18999.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0007	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0015 a0001c0016 a0002c0004 a0005c0013 a0007c0008	a0001c0001t0003 a0001c0001t0007 a0001c0002t0006 others(6): Show a0001c0001t0003 a0001c0001t0007 a0001c0002t0006 a0001c0003t0001 a0001c0015t0006 a0001c0016t0024 a0002c0004t0011 a0005c0013t0009 a0007c0008t0007	a0001c0001t0003g0022 a0001c0001t0003g0048 a0001c0001t0007g0021 others(7): Show a0001c0001t0003g0022 a0001c0001t0003g0048 a0001c0001t0007g0021 a0001c0002t0006g0008 a0001c0003t0001g0004 a0001c0015t0006g0043 a0001c0016t0024g0053 a0002c0004t0011g0005 a0005c0013t0009g0033 a0007c0008t0007g0023	10	58	0.1724	-16	c.439 others(35): Show c.439-84971_439-84956delGATAGATAGATAGATA	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7398189	CTCTCTAT others(9): Show CTCTCTATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0032 a0001c0003t0008g0032	1	58	0.0172	-16	c.439 others(35): Show c.439-69639_439-69624delCTCTATATATATATAT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7456983	GCCCTCCC others(9): Show GCCCTCCCGTTCCTCCT	G G	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	58	0.0172	-16	c.439 others(35): Show c.439-10839_439-10824delGTTCCTCCTCCCTCCC	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7513926	AACACATA others(9): Show AACACATACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG01243.hp2 others(12): Show HG00558.hp1 HG00558.hp2 HG01243.hp2 HG01884.hp1 HG02004.hp1 HG02055.hp1 HG02132.hp1 HG02132.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02630.hp2 HG02723.hp1 HG03225.hp2 HG03453.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0015 a0002c0004 a0003c0012 a0007c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0013 a0001c0002t0002 a0001c0002t0003 a0001c0003t0001 a0001c0005t0005 a0001c0005t0009 a0001c0015t0006 a0002c0004t0011 a0003c0012t0022 a0007c0008t0007	a0001c0001t0001g0011 a0001c0001t0001g0040 a0001c0001t0003g0047 others(12): Show a0001c0001t0001g0011 a0001c0001t0001g0040 a0001c0001t0003g0047 a0001c0001t0004g0034 a0001c0001t0013g0054 a0001c0001t0013g0056 a0001c0002t0002g0016 a0001c0002t0003g0025 a0001c0003t0001g0012 a0001c0005t0005g0044 a0001c0005t0009g0050 a0001c0015t0006g0043 a0002c0004t0011g0005 a0003c0012t0022g0017 a0007c0008t0007g0023	15	58	0.2586	-16	c.510 others(35): Show c.510+46057_510+46072delCACACATACACACACA	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7528959	GTGCCAGT others(9): Show GTGCCAGTAACTAGTCA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01243.hp1 HG01496.hp2 others(11): Show HG00558.hp1 HG01243.hp1 HG01496.hp2 HG02523.hp2 HG02630.hp1 HG02647.hp2 HG03041.hp1 HG03130.hp1 HG03579.hp2 HG03704.hp2 NA18999.hp1 NA18999.hp2 NA20300.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0015 a0001c0001t0020 a0001c0002t0001 a0001c0003t0005 a0001c0003t0010 a0002c0004t0018	a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0002g0002 others(11): Show a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0002g0002 a0001c0001t0002g0009 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0007g0021 a0001c0001t0008g0003 a0001c0001t0015g0037 a0001c0001t0020g0049 a0001c0002t0001g0020 a0001c0003t0005g0028 a0001c0003t0010g0035 a0002c0004t0018g0015	14	58	0.2414	-16	c.510 others(35): Show c.510+61105_510+61120delCATGCCAGTAACTAGT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7553219	GTGAATGA others(9): Show GTGAATGAATGAGGGAA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01243.hp2 HG01884.hp1 others(34): Show HG00558.hp2 HG01243.hp2 HG01884.hp1 HG01884.hp2 HG02004.hp2 HG02055.hp1 HG02132.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp1 HG02922.hp1 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 NA18999.hp1 NA19043.hp1 NA19043.hp2 NA20300.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0009 a0001c0015 a0002c0004 a0003c0012 a0005c0013 a0006c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0020 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0010 a0001c0003t0001 a0001c0003t0005 a0001c0003t0010 a0001c0003t0023 a0001c0005t0005 a0001c0005t0009 a0001c0006t0001 a0001c0009t0019 a0001c0015t0006 a0002c0004t0011 a0002c0004t0017 a0003c0012t0022 a0005c0013t0009 a0006c0007t0014	a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0024 others(34): Show a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0024 a0001c0001t0002g0009 a0001c0001t0002g0036 a0001c0001t0002g0046 a0001c0001t0003g0048 a0001c0001t0004g0026 a0001c0001t0004g0034 a0001c0001t0005g0038 a0001c0001t0008g0003 a0001c0001t0011g0058 a0001c0001t0012g0019 a0001c0001t0012g0051 a0001c0001t0013g0054 a0001c0001t0013g0056 a0001c0001t0015g0037 a0001c0001t0020g0049 a0001c0002t0002g0016 a0001c0002t0003g0006 a0001c0002t0003g0025 a0001c0002t0004g0030 a0001c0002t0010g0010 a0001c0003t0001g0012 a0001c0003t0005g0028 a0001c0003t0010g0035 a0001c0003t0023g0045 a0001c0005t0005g0044 a0001c0005t0009g0050 a0001c0006t0001g0055 a0001c0009t0019g0039 a0001c0015t0006g0043 a0002c0004t0011g0005 a0002c0004t0017g0042 a0003c0012t0022g0017 a0005c0013t0009g0033 a0006c0007t0014g0018	37	58	0.6379	-16	c.510 others(35): Show c.510+85347_510+85362delGGAATGAATGAATGAG	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7558493	CCTTCTCC others(9): Show CCTTCTCCAGGGAAAAG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03130.hp2 HG01884.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0003t0023 a0001c0002t0003 a0001c0003t0023	a0001c0002t0003g0006 a0001c0003t0023g0045 a0001c0002t0003g0006 a0001c0003t0023g0045	2	58	0.0345	-16	c.511 others(35): Show c.511-81906_511-81891delCTTCTCCAGGGAAAAG	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	6/22			chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7602080	TTTCCTTC others(9): Show TTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03041.hp2 HG02257.hp2 HG03041.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0013 a0001c0001 a0005c0013	a0001c0001t0001 a0005c0013t0009 a0001c0001t0001 a0005c0013t0009	a0001c0001t0001g0007 a0005c0013t0009g0033 a0001c0001t0001g0007 a0005c0013t0009g0033	2	58	0.0345	-16	c.511 others(35): Show c.511-38270_511-38255delTCCTTCCTTCCTTCCT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA2_chr17_4962997_4992675	4965836	TTATTTAT others(9): Show TTATTTATTTATTTATC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02615.hp1 HG02647.hp2 others(5): Show HG02572.hp1 HG02615.hp1 HG02647.hp2 HG02818.hp2 HG03130.hp2 HG03195.hp2 HG03453.hp1 HG03579.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0001 a0006c0007t0001 a0006c0007t0011 a0001c0001t0001 a0006c0007t0001 a0006c0007t0011	a0001c0001t0001g0016 a0001c0001t0001g0106 a0001c0001t0001g0145 others(2): Show a0001c0001t0001g0016 a0001c0001t0001g0106 a0001c0001t0001g0145 a0006c0007t0001g0107 a0006c0007t0011g0108	8	380	0.0211	-16	c.29 others(27): Show c.2904_*2919delGATAAATAAATAAATA	CAMTA2	ENSG00000108509.21	transcript	ENST00000348066.8	protein_coding		2160		chr17	TogoVar
CANT1_chr17_78986716_79014764	79009819	CTCTGCGG others(9): Show CTCTGCGGCTGCGCGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	394	0.0025	-16	c.-31 others(25): Show c.-318_-303delCGCGCGCAGCCGCAGA	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding		56		chr17	TogoVar
CAP2_chr6_17388595_17562780	17444804	CCACACAC others(9): Show CCACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0187 a0001c0002t0001g0187	1	206	0.0049	-16	c.222 others(35): Show c.222+18139_223-18152delCACACACACACACACA	CAP2	ENSG00000112186.13	transcript	ENST00000229922.7	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAP2_chr6_17388595_17562780	17482507	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0002 a0004c0010t0002	a0004c0010t0002g0061 a0004c0010t0002g0061	1	206	0.0049	-16	c.300 others(35): Show c.300+19451_300+19466delAAAAAAAAAAAAAAAA	CAP2	ENSG00000112186.13	transcript	ENST00000229922.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAP2_chr6_17388595_17562780	17500340	AATATATA others(9): Show AATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	206	0.0049	-16	c.301 others(33): Show c.301-6800_301-6785delATATATATATATATAT	CAP2	ENSG00000112186.13	transcript	ENST00000229922.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPG_chr2_85389753_85415366	85408338	TCACACAC others(9): Show TCACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0088 a0001c0003t0001g0088	1	410	0.0024	-16	c.-14 others(33): Show c.-14+1963_-14+1978delTGTGTGTGTGTGTGTG	CAPG	ENSG00000042493.16	transcript	ENST00000263867.9	protein_coding	1/9			chr2	TogoVar
CAPN11_chr6_44153820_44189401	44162368	GACACACA others(9): Show GACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00733.hp2 HG01433.hp1 others(47): Show HG00544.hp1 HG00733.hp2 HG01433.hp1 HG01496.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG02004.hp1 HG02071.hp1 HG02135.hp1 HG02273.hp1 HG03239.hp1 HG03491.hp1 HG03492.hp2 HG03688.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp2 NA18612.hp2 NA18940.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18954.hp1 NA18956.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp1 NA18967.hp1 NA18978.hp2 NA18982.hp1 NA18984.hp2 NA18989.hp1 NA18990.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19006.hp1 NA19009.hp1 NA19054.hp1 NA19056.hp1 NA19059.hp1 NA19063.hp1 NA19064.hp1 NA19081.hp2 NA19082.hp2 NA19085.hp2 NA20300.hp1 NA20905.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0019	a0001c0001 a0002c0002 a0004c0004 others(2): Show a0001c0001 a0002c0002 a0004c0004 a0006c0005 a0019c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0002c0002t0001 a0002c0002t0002 a0004c0004t0001 a0006c0005t0001 a0019c0022t0002	a0001c0001t0001g0004 a0001c0001t0001g0029 a0001c0001t0001g0030 others(43): Show a0001c0001t0001g0004 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0072 a0001c0001t0001g0078 a0001c0001t0001g0094 a0001c0001t0001g0112 a0001c0001t0001g0187 a0001c0001t0001g0192 a0001c0001t0001g0385 a0001c0001t0001g0386 a0001c0001t0001g0403 a0001c0001t0001g0405 a0001c0001t0001g0406 a0001c0001t0001g0408 a0001c0001t0001g0411 a0001c0001t0001g0412 a0001c0001t0001g0413 a0001c0001t0002g0395 a0001c0001t0002g0399 a0001c0001t0002g0400 a0001c0001t0002g0401 a0001c0001t0002g0402 a0001c0001t0005g0214 a0002c0002t0001g0007 a0002c0002t0001g0033 a0002c0002t0001g0079 a0002c0002t0001g0215 a0002c0002t0001g0384 a0002c0002t0001g0397 a0002c0002t0001g0398 a0002c0002t0001g0404 a0002c0002t0001g0409 a0002c0002t0001g0415 a0002c0002t0002g0414 a0004c0004t0001g0016 a0004c0004t0001g0031 a0004c0004t0001g0032 a0004c0004t0001g0100 a0004c0004t0001g0188 a0004c0004t0001g0396 a0004c0004t0001g0407 a0006c0005t0001g0015 a0006c0005t0001g0028 a0006c0005t0001g0410 a0019c0022t0002g0310	50	460	0.1087	-16	c.16+ others(31): Show c.16+3531_16+3546delACACACACACACACAC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44187521	TTTGTTTT others(9): Show TTTGTTTTGTTTTGGGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	460	0.0022	-16	c.35 others(27): Show c.3590_*3605delTTGTTTTGTTTTGGGG	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding		3121		chr6	TogoVar
CAPN12_chr19_38725192_38749474	38735737	CGGGGGTT others(9): Show CGGGGGTTCTGGGGGCG	C C	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0168 a0001c0002t0002g0168	1	342	0.0029	-16	c.158 others(33): Show c.1584-209_1584-194delCGCCCCCAGAACCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar

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