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
C9_chr5_39279140_39369495	39359102	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	394	0.0025	22	c.77+ others(37): Show c.77+5264_77+5285dupTATATATATATATATATATATA	C9	ENSG00000113600.12	transcript	ENST00000263408.5	protein_coding	1/10			chr5	TogoVar
C9_chr5_39279140_39369495	39359102	G G	GTGTGTAT others(15): Show GTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01255.hp2 HG01515.hp1 others(4): Show HG00642.hp2 HG01255.hp2 HG01515.hp1 HG02280.hp2 HG02559.hp1 HG03139.hp1 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0018 a0002c0021 a0002c0002 a0002c0018 a0002c0021	a0002c0002t0001 a0002c0002t0003 a0002c0018t0009 others(1): Show a0002c0002t0001 a0002c0002t0003 a0002c0018t0009 a0002c0021t0002	a0002c0002t0001g0343 a0002c0002t0001g0344 a0002c0002t0001g0345 others(4): Show a0002c0002t0001g0343 a0002c0002t0001g0344 a0002c0002t0001g0345 a0002c0002t0001g0347 a0002c0002t0003g0290 a0002c0018t0009g0346 a0002c0021t0002g0289	7	394	0.0178	22	c.77+ others(37): Show c.77+5285_77+5286insTATATATATATATATATACACA	C9	ENSG00000113600.12	transcript	ENST00000263408.5	protein_coding	1/10			chr5	TogoVar
C9_chr5_39279140_39369495	39359102	G G	GTGTGTGT others(15): Show GTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01515.hp2 NA18969.hp1 NA19006.hp1 others(2): Show HG01515.hp2 NA18969.hp1 NA19006.hp1 NA19043.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0333 a0002c0002t0001g0334 a0002c0002t0001g0335 others(2): Show a0002c0002t0001g0333 a0002c0002t0001g0334 a0002c0002t0001g0335 a0002c0002t0001g0336 a0002c0002t0002g0337	5	394	0.0127	22	c.77+ others(37): Show c.77+5285_77+5286insTATATATATATATATACACACA	C9	ENSG00000113600.12	transcript	ENST00000263408.5	protein_coding	1/10			chr5	TogoVar
C9orf152_chr9_110194561_110213159	110198893	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG01069.hp2 HG01433.hp1 others(4): Show HG00323.hp2 HG01069.hp2 HG01433.hp1 HG02451.hp1 HG04204.hp1 NA18522.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0045 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0045 a0001c0001t0001g0088	7	466	0.0150	22	c.20 others(33): Show c.2033_*2054dupTTTTTTTTTTTTTTTTTTTTTT	C9orf152	ENSG00000188959.10	transcript	ENST00000400613.5	protein_coding		667		chr9	TogoVar
C9orf153_chr9_86215265_86264657	86251914	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01109.hp1 HG03195.hp1 others(7): Show HG00735.hp2 HG01109.hp1 HG03195.hp1 HG03453.hp1 HG03669.hp1 NA18522.hp1 NA18952.hp1 NA18999.hp2 NA19009.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0046 a0001c0001t0002g0091 a0001c0001t0002g0098 others(7): Show a0001c0001t0002g0046 a0001c0001t0002g0091 a0001c0001t0002g0098 a0001c0001t0002g0111 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0175 a0001c0001t0003g0298	10	384	0.0260	22	c.-27 others(39): Show c.-27+7614_-27+7635dupGTGTGTGTGTGTGTGTGTGTGT	C9orf153	ENSG00000187753.13	transcript	ENST00000339137.7	protein_coding	1/3			chr9	TogoVar
C9orf57_chr9_72046376_72065613	72055374	C C	CTCCCTCC others(15): Show CTCCCTCCCTCCCTCCCTCCTCT	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	450	0.0022	22	c.280 others(37): Show c.280+699_280+700insAGAGGAGGGAGGGAGGGAGGGA	C9orf57	ENSG00000204669.11	transcript	ENST00000651200.2	protein_coding	4/4			chr9	TogoVar
CA10_chr17_51625320_52163714	51707671	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	156	0.0064	22	c.465 others(41): Show c.465+39940_465+39961dupCACACACACACACACACACACA	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	4/8			chr17	TogoVar
CA12_chr15_63316378_63386846	63376600	T T	TTCTTTCT others(15): Show TTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00741.hp2 HG01070.hp1 others(27): Show HG00408.hp1 HG00741.hp2 HG01070.hp1 HG01106.hp1 HG01257.hp1 HG01258.hp1 HG01433.hp1 HG01978.hp2 HG02004.hp2 HG02015.hp2 HG02135.hp2 HG02273.hp2 HG02572.hp2 HG03471.hp2 HG03927.hp2 NA18747.hp1 NA18939.hp1 NA18941.hp2 NA18944.hp2 NA18947.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18999.hp2 NA19009.hp1 NA19009.hp2 NA19066.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0015 a0001c0001t0020 a0001c0001t0027 a0001c0001t0030 a0001c0001t0047 a0001c0001t0048	a0001c0001t0001g0276 a0001c0001t0001g0318 a0001c0001t0002g0100 others(26): Show a0001c0001t0001g0276 a0001c0001t0001g0318 a0001c0001t0002g0100 a0001c0001t0002g0214 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0279 a0001c0001t0002g0317 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0003g0099 a0001c0001t0004g0008 a0001c0001t0004g0131 a0001c0001t0004g0132 a0001c0001t0004g0277 a0001c0001t0004g0278 a0001c0001t0005g0281 a0001c0001t0005g0282 a0001c0001t0005g0316 a0001c0001t0015g0215 a0001c0001t0015g0219 a0001c0001t0020g0216 a0001c0001t0020g0280 a0001c0001t0027g0222 a0001c0001t0030g0223 a0001c0001t0047g0067 a0001c0001t0048g0224	30	356	0.0843	22	c.86- others(35): Show c.86-923_86-922insGAAAGAAAGAAAGAAAGAAAGA	CA12	ENSG00000074410.14	transcript	ENST00000178638.8	protein_coding	1/10			chr15	TogoVar
CA3_chr8_85433859_85454040	85448891	G G	GCATGATT others(15): Show GCATGATTATTAAAATAAAAACT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0056 a0001c0001t0008g0056	1	364	0.0028	22	c.73 others(31): Show c.739_*760dupCATGATTATTAAAATAAAAACT	CA3	ENSG00000164879.7	transcript	ENST00000285381.3	protein_coding	7/7	761	INFO_REALIGN_3_PRIME	chr8	TogoVar
CA5A_chr16_87883013_87941529	87937799	C C	CTTTCTTT others(15): Show CTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0054 a0001c0003t0002g0054	1	400	0.0025	22	c.-13 others(33): Show c.-1350_-1349insAAGAAAGAAAGAAAGAAAGAAA	CA5A	ENSG00000174990.8	transcript	ENST00000649794.3	protein_coding		1271		chr16	TogoVar
CA6_chr1_8940868_8980092	8960789	C C	CACACACA others(15): Show CACACACACACACACATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0310 a0009c0010t0001g0310	1	452	0.0022	22	c.501 others(39): Show c.501+1788_501+1789insCACACACACACACATATATATA	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
CA6_chr1_8940868_8980092	8960789	C C	CACACACA others(15): Show CACACACACACACATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02040.hp2 HG02258.hp1 others(9): Show HG00738.hp1 HG02040.hp2 HG02258.hp1 HG02738.hp1 NA18946.hp1 NA18974.hp1 NA18991.hp1 NA19064.hp2 NA19065.hp2 NA19083.hp1 NA19088.hp2 NA19091.hp1	a0002 a0003 a0007 a0002 a0003 a0007	a0002c0001 a0003c0003 a0007c0007 a0002c0001 a0003c0003 a0007c0007	a0002c0001t0001 a0002c0001t0002 a0003c0003t0001 others(1): Show a0002c0001t0001 a0002c0001t0002 a0003c0003t0001 a0007c0007t0001	a0002c0001t0001g0240 a0002c0001t0001g0246 a0002c0001t0001g0247 others(8): Show a0002c0001t0001g0240 a0002c0001t0001g0246 a0002c0001t0001g0247 a0002c0001t0001g0248 a0002c0001t0001g0249 a0002c0001t0001g0251 a0002c0001t0001g0262 a0002c0001t0001g0348 a0002c0001t0002g0261 a0003c0003t0001g0048 a0007c0007t0001g0005	12	452	0.0266	22	c.501 others(39): Show c.501+1788_501+1789insCACACACACACATATATATATA	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
CA6_chr1_8940868_8980092	8973784	C C	CTTTTTCT others(15): Show CTTTTTCTTTCTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02896.hp1 HG02723.hp2 HG02896.hp1	a0004 a0009 a0004 a0009	a0004c0009 a0009c0027 a0004c0009 a0009c0027	a0004c0009t0001 a0009c0027t0001 a0004c0009t0001 a0009c0027t0001	a0004c0009t0001g0218 a0009c0027t0001g0017 a0004c0009t0001g0218 a0009c0027t0001g0017	2	452	0.0044	22	c.845 others(37): Show c.845-834_845-833insTCTTTCTTCTTTCTTTCTTTTT	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
CA8_chr8_60180412_60286400	60190957	T T	TATATATA others(15): Show TATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18950.hp2 NA18939.hp1 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0233 a0001c0001t0002g0234	2	344	0.0058	22	c.36 others(37): Show c.36-973_*36-972insGTGTGTATATATATATATATAT	CA8	ENSG00000178538.10	transcript	ENST00000317995.5	protein_coding	8/8			chr8	TogoVar
CAAP1_chr9_26835685_26897802	26847198	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	372	0.0027	22	c.740 others(39): Show c.740-4573_740-4552dupAAAAAAAAAAAAAAAAAAAAAA	CAAP1	ENSG00000120159.13	transcript	ENST00000333916.8	protein_coding	5/5			chr9	TogoVar
CAAP1_chr9_26835685_26897802	26872553	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0024 a0002c0003t0001g0024	1	372	0.0027	22	c.666 others(41): Show c.666-11415_666-11414insATATATATATATATATATATAT	CAAP1	ENSG00000120159.13	transcript	ENST00000333916.8	protein_coding	4/5			chr9	TogoVar
CAB39L_chr13_49303650_49449064	49346100	G G	GATATATA others(15): Show GATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00597.hp2 others(21): Show HG00280.hp2 HG00323.hp1 HG00597.hp2 HG00738.hp1 HG01099.hp1 HG01433.hp1 HG01496.hp2 HG02132.hp2 HG02155.hp2 HG02698.hp1 HG03704.hp2 HG04184.hp1 NA18939.hp1 NA18953.hp1 NA18959.hp1 NA18963.hp2 NA18979.hp1 NA18981.hp1 NA18981.hp2 NA19010.hp1 NA19084.hp1 NA19085.hp1 NA19087.hp1 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0019	a0001c0002t0001g0077 a0001c0002t0001g0085 a0001c0002t0001g0096 others(21): Show a0001c0002t0001g0077 a0001c0002t0001g0085 a0001c0002t0001g0096 a0001c0002t0001g0153 a0001c0002t0001g0158 a0001c0002t0001g0172 a0001c0002t0001g0187 a0001c0002t0001g0203 a0001c0002t0001g0221 a0001c0002t0001g0231 a0001c0002t0001g0267 a0001c0002t0001g0303 a0001c0002t0002g0080 a0001c0002t0002g0118 a0001c0002t0002g0216 a0001c0002t0002g0219 a0001c0002t0002g0255 a0001c0002t0002g0287 a0001c0002t0002g0290 a0001c0002t0002g0304 a0001c0002t0003g0016 a0001c0002t0003g0042 a0001c0002t0003g0045 a0001c0002t0019g0038	24	324	0.0741	22	c.565 others(39): Show c.565-1884_565-1863dupATATATATATATATATATATAT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	7/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49441221	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp1 HG01243.hp2 others(14): Show HG01109.hp2 HG01243.hp1 HG01243.hp2 HG01884.hp2 HG02015.hp1 HG02083.hp1 HG02132.hp2 HG02258.hp2 HG02451.hp1 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG03195.hp1 HG03579.hp1 HG03831.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 a0001c0001t0016 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0002t0013	a0001c0001t0001g0051 a0001c0001t0001g0265 a0001c0001t0001g0296 others(14): Show a0001c0001t0001g0051 a0001c0001t0001g0265 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0315 a0001c0001t0002g0107 a0001c0001t0002g0292 a0001c0001t0004g0268 a0001c0001t0004g0295 a0001c0001t0012g0264 a0001c0001t0016g0314 a0001c0002t0001g0267 a0001c0002t0001g0291 a0001c0002t0001g0322 a0001c0002t0002g0290 a0001c0002t0007g0323 a0001c0002t0013g0266	17	324	0.0525	22	c.-24 others(41): Show c.-246+2743_-246+2764dupTATATATATATATATATATATA	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	1/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49441221	G G	GTGTATAT others(15): Show GTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02451.hp2 HG02818.hp2 others(4): Show HG02109.hp1 HG02451.hp2 HG02818.hp2 HG02897.hp1 HG02965.hp1 HG03098.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0281 others(4): Show a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0281 a0001c0001t0006g0277 a0001c0001t0006g0280 a0001c0001t0006g0282 a0001c0001t0006g0283	7	324	0.0216	22	c.-24 others(41): Show c.-246+2764_-246+2765insTATATATATATATATATATACA	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	1/10			chr13	TogoVar
CAB39_chr2_230707842_230826075	230748827	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0139 a0001c0001t0013g0139	1	342	0.0029	22	c.-43 others(41): Show c.-43-11131_-43-11130insTATATATATATATATATATATA	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230748829	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0298 a0001c0001t0001g0298	1	342	0.0029	22	c.-43 others(41): Show c.-43-11129_-43-11128insTATATATATATATATATATATA	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230782809	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02630.hp2 HG02572.hp1 HG02630.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0012 a0003c0003t0012 a0001c0001t0012 a0003c0003t0012	a0001c0001t0012g0173 a0003c0003t0012g0178 a0001c0001t0012g0173 a0003c0003t0012g0178	2	342	0.0059	22	c.115 others(39): Show c.115-8060_115-8059insTTTTTTTTTTTTTTTTTTTTTT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CABCOCO1_chr10_61657929_61771766	61680652	T T	TTATGTTA others(15): Show TTATGTTATACATGTATAACATA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02083.hp2 HG02132.hp1 others(18): Show HG01123.hp2 HG02083.hp2 HG02132.hp1 HG02135.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02615.hp1 HG02717.hp2 HG02723.hp2 HG02886.hp1 HG02976.hp1 HG03041.hp2 HG03486.hp2 NA18747.hp2 NA18906.hp1 NA18953.hp2 NA18982.hp1 NA19075.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 others(18): Show a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0219 a0001c0001t0001g0234 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0004g0245	21	374	0.0562	22	c.165 others(37): Show c.165-465_165-444dupGTTATACATGTATAACATATAT	CABCOCO1	ENSG00000183346.9	transcript	ENST00000648843.3	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CABCOCO1_chr10_61657929_61771766	61720917	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0016 a0001c0002t0006g0016	1	374	0.0027	22	c.552 others(41): Show c.552+30300_552+30321dupTTTTTTTTTTTTTTTTTTTTTT	CABCOCO1	ENSG00000183346.9	transcript	ENST00000648843.3	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CABIN1_chr22_24006304_24183628	24042818	C C	CTCTGTGT others(15): Show CTCTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0113 a0001c0019t0001g0113	1	268	0.0037	22	c.346 others(35): Show c.346-85_346-84insCTGTGTGTGTGTGTGTGTGTGT	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CABIN1_chr22_24006304_24183628	24042818	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA18963.hp2 NA19005.hp2 others(1): Show HG02145.hp2 NA18963.hp2 NA19005.hp2 NA19083.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0001c0001t0001 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0057 a0001c0001t0001g0242 a0001c0003t0001g0124 others(1): Show a0001c0001t0001g0057 a0001c0001t0001g0242 a0001c0003t0001g0124 a0002c0002t0001g0170	4	268	0.0149	22	c.346 others(35): Show c.346-48_346-27dupGTGTGTGTGTGTGTGTGTGTGT	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CABLES1_chr18_23130485_23265470	23174821	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp2 NA18992.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0033 a0001c0001t0054 a0001c0001t0001 a0001c0001t0033 a0001c0001t0054	a0001c0001t0001g0016 a0001c0001t0033g0140 a0001c0001t0054g0015 a0001c0001t0001g0016 a0001c0001t0033g0140 a0001c0001t0054g0015	3	278	0.0108	22	c.846 others(41): Show c.846-13998_846-13977dupATATATATATATATATATATAT	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23188543	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG03209.hp1 others(1): Show HG01884.hp2 HG01891.hp1 HG03209.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0167 a0001c0001t0010g0168 a0001c0001t0010g0169 others(1): Show a0001c0001t0010g0167 a0001c0001t0010g0168 a0001c0001t0010g0169 a0001c0001t0010g0171	4	278	0.0144	22	c.846 others(37): Show c.846-293_846-272dupGTGTGTGTGTGTGTGTGTGTGT	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES2_chr20_62383634_62412285	62397671	T T	TCCCTTAT others(15): Show TCCCTTATACCGGGAGCCATGAA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0165 a0002c0003t0001g0165	1	400	0.0025	22	c.363 others(39): Show c.363-1101_363-1080dupTTCATGGCTCCCGGTATAAGGG	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar
CABP5_chr19_48024383_48049079	48029798	C C	CAGAGAGA others(15): Show CAGAGAGAGAGAGAGAGAGAGAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01175.hp1 HG02698.hp1 HG03017.hp1 HG01175.hp1 HG02698.hp1 HG03017.hp1	a0002 a0002	a0002c0003 a0002c0006 a0002c0003 a0002c0006	a0002c0003t0025 a0002c0006t0025 a0002c0006t0052 a0002c0003t0025 a0002c0006t0025 a0002c0006t0052	a0002c0003t0025g0065 a0002c0006t0025g0188 a0002c0006t0052g0190 a0002c0003t0025g0065 a0002c0006t0025g0188 a0002c0006t0052g0190	3	376	0.0080	22	c.73 others(31): Show c.737_*758dupCTCTCTCTCTCTCTCTCTCTCT	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	6/6	758		chr19	TogoVar
CACHD1_chr1_64465129_64698053	64543402	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03041.hp2 HG03195.hp2 others(1): Show HG02258.hp2 HG03041.hp2 HG03195.hp2 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0010 a0001c0001 a0003c0010	a0001c0001t0002 a0001c0001t0015 a0001c0001t0016 others(1): Show a0001c0001t0002 a0001c0001t0015 a0001c0001t0016 a0003c0010t0001	a0001c0001t0002g0141 a0001c0001t0015g0048 a0001c0001t0016g0014 others(1): Show a0001c0001t0002g0141 a0001c0001t0015g0048 a0001c0001t0016g0014 a0003c0010t0001g0088	4	166	0.0241	22	c.199 others(39): Show c.199-7189_199-7168dupATATATATATATATATATATAT	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACHD1_chr1_64465129_64698053	64606106	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01168.hp1 HG01258.hp1 others(11): Show HG01099.hp1 HG01168.hp1 HG01258.hp1 HG02055.hp2 HG02135.hp2 HG02523.hp2 HG02895.hp1 HG03130.hp1 HG04199.hp1 HG04228.hp2 NA18955.hp1 NA19002.hp2 NA19056.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0011 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004	a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0002t0001g0023 others(11): Show a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0002t0001g0023 a0001c0002t0002g0128 a0001c0002t0011g0145 a0001c0003t0001g0034 a0001c0003t0001g0077 a0001c0003t0001g0084 a0001c0003t0001g0106 a0001c0003t0002g0139 a0001c0003t0002g0152 a0001c0003t0003g0033 a0001c0003t0003g0035 a0001c0003t0004g0117	14	166	0.0843	22	c.517 others(39): Show c.517+3197_517+3218dupACACACACACACACACACACAC	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1A_chr19_13201442_13511479	13294487	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0015 a0015	a0015c0021 a0015c0021	a0015c0021t0004 a0015c0021t0004	a0015c0021t0004g0044 a0015c0021t0004g0044	1	218	0.0046	22	c.308 others(41): Show c.3089+4035_3089+4056dupAAAAAAAAAAAAAAAAAAAAAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	19/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13310487	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0002 a0002	a0002c0114 a0002c0114	a0002c0114t0002 a0002c0114t0002	a0002c0114t0002g0192 a0002c0114t0002g0192	1	218	0.0046	22	c.166 others(41): Show c.1669-1960_1669-1959insATATATATATATATATATATAT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	12/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13310489	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG04184.hp1 HG02451.hp1 HG04184.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0013 a0002c0002 a0003c0013	a0002c0002t0006 a0003c0013t0027 a0002c0002t0006 a0003c0013t0027	a0002c0002t0006g0142 a0003c0013t0027g0149 a0002c0002t0006g0142 a0003c0013t0027g0149	2	218	0.0092	22	c.166 others(41): Show c.1669-1983_1669-1962dupATATATATATATATATATATAT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	12/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13318890	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01255.hp1 HG02615.hp1 others(6): Show HG01106.hp1 HG01255.hp1 HG02615.hp1 HG02647.hp2 HG03139.hp2 HG03195.hp1 HG03831.hp2 NA18980.hp2 NA19065.hp2	a0001 a0003 a0006 others(3): Show a0001 a0003 a0006 a0027 a0037 a0042	a0001c0037 a0001c0096 a0003c0039 others(6): Show a0001c0037 a0001c0096 a0003c0039 a0003c0116 a0006c0011 a0006c0121 a0027c0064 a0037c0087 a0042c0097	a0001c0037t0004 a0001c0096t0025 a0003c0039t0009 others(6): Show a0001c0037t0004 a0001c0096t0025 a0003c0039t0009 a0003c0116t0045 a0006c0011t0003 a0006c0121t0041 a0027c0064t0004 a0037c0087t0001 a0042c0097t0005	a0001c0037t0004g0021 a0001c0096t0025g0003 a0003c0039t0009g0075 others(6): Show a0001c0037t0004g0021 a0001c0096t0025g0003 a0003c0039t0009g0075 a0003c0116t0045g0111 a0006c0011t0003g0070 a0006c0121t0041g0042 a0027c0064t0004g0101 a0037c0087t0001g0103 a0042c0097t0005g0059	9	218	0.0413	22	c.134 others(41): Show c.1346-1570_1346-1569insAAAAAAAAAAAAAAAAAAAAAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	10/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13336594	G G	GGAGAGAG others(15): Show GGAGAGAGAGGGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02896.hp2 HG02970.hp2 others(6): Show HG00423.hp2 HG02896.hp2 HG02970.hp2 HG03942.hp2 NA18939.hp2 NA18964.hp2 NA18968.hp1 NA18977.hp1 NA18995.hp2	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0012 a0029 a0030 a0035 a0040	a0001c0001 a0002c0082 a0004c0093 others(5): Show a0001c0001 a0002c0082 a0004c0093 a0012c0065 a0029c0063 a0030c0062 a0035c0057 a0040c0069	a0001c0001t0001 a0001c0001t0005 a0002c0082t0003 others(6): Show a0001c0001t0001 a0001c0001t0005 a0002c0082t0003 a0004c0093t0010 a0012c0065t0017 a0029c0063t0002 a0030c0062t0002 a0035c0057t0020 a0040c0069t0014	a0001c0001t0001g0030 a0001c0001t0005g0168 a0002c0082t0003g0058 others(6): Show a0001c0001t0001g0030 a0001c0001t0005g0168 a0002c0082t0003g0058 a0004c0093t0010g0046 a0012c0065t0017g0055 a0029c0063t0002g0196 a0030c0062t0002g0124 a0035c0057t0020g0002 a0040c0069t0014g0040	9	218	0.0413	22	c.979 others(37): Show c.979-686_979-685insTCTCTCTCTCTCCCTCTCTCTC	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13360265	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01978.hp1 NA18979.hp2 HG01978.hp1 NA18979.hp2	a0001 a0005 a0001 a0005	a0001c0004 a0005c0022 a0001c0004 a0005c0022	a0001c0004t0015 a0005c0022t0004 a0001c0004t0015 a0005c0022t0004	a0001c0004t0015g0140 a0005c0022t0004g0092 a0001c0004t0015g0140 a0005c0022t0004g0092	2	218	0.0092	22	c.785 others(37): Show c.785-467_785-466insTATATATATATATATATATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	5/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13406509	A A	ATATATAT others(15): Show ATATATATATATATGTATGTATG	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0028 a0028	a0028c0119 a0028c0119	a0028c0119t0026 a0028c0119t0026	a0028c0119t0026g0131 a0028c0119t0026g0131	1	218	0.0046	22	c.540 others(41): Show c.540-34731_540-34730insCATACATACATATATATATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13413884	A A	AAGAAAAG others(15): Show AAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02698.hp2 NA18906.hp1 NA20300.hp1 HG02698.hp2 NA18906.hp1 NA20300.hp1	a0001 a0004 a0016 a0001 a0004 a0016	a0001c0005 a0004c0007 a0016c0028 a0001c0005 a0004c0007 a0016c0028	a0001c0005t0004 a0004c0007t0001 a0016c0028t0007 a0001c0005t0004 a0004c0007t0001 a0016c0028t0007	a0001c0005t0004g0201 a0004c0007t0001g0114 a0016c0028t0007g0073 a0001c0005t0004g0201 a0004c0007t0001g0114 a0016c0028t0007g0073	3	218	0.0138	22	c.539 others(41): Show c.539+38991_539+38992insCTTTTCTTTTCTTTTCTTTTCT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13415743	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0044 a0044	a0044c0112 a0044c0112	a0044c0112t0012 a0044c0112t0012	a0044c0112t0012g0206 a0044c0112t0012g0206	1	218	0.0046	22	c.539 others(41): Show c.539+37111_539+37132dupTTTTTTTTTTTTTTTTTTTTTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13433460	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp2 HG01993.hp1 HG01993.hp2	a0001 a0012 a0001 a0012	a0001c0018 a0012c0023 a0001c0018 a0012c0023	a0001c0018t0001 a0012c0023t0003 a0001c0018t0001 a0012c0023t0003	a0001c0018t0001g0037 a0012c0023t0003g0164 a0001c0018t0001g0037 a0012c0023t0003g0164	2	218	0.0092	22	c.539 others(41): Show c.539+19394_539+19415dupTTTTTTTTTTTTTTTTTTTTTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13464543	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0135 a0001c0005t0005g0135	1	218	0.0046	22	c.294 others(39): Show c.294-9353_294-9332dupAAAAAAAAAAAAAAAAAAAAAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46			chr19	TogoVar
CACNA1B_chr9_137872782_138129619	137954856	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp2 HG00544.hp2 others(31): Show HG00280.hp2 HG00438.hp2 HG00544.hp2 HG00621.hp1 HG00639.hp2 HG00738.hp2 HG01884.hp2 HG02015.hp2 HG02074.hp1 HG02135.hp2 HG02895.hp2 HG02965.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03453.hp2 HG03579.hp1 HG03704.hp2 HG03834.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18945.hp2 NA18951.hp2 NA18952.hp2 NA18971.hp1 NA18983.hp1 NA19010.hp1 NA19070.hp2 NA19079.hp1 NA19080.hp2 NA19088.hp1 NA20129.hp1 NA20905.hp1	a0001 a0002 a0007 others(2): Show a0001 a0002 a0007 a0015 a0017	a0001c0002 a0001c0003 a0001c0007 others(7): Show a0001c0002 a0001c0003 a0001c0007 a0001c0013 a0001c0017 a0001c0018 a0002c0001 a0007c0016 a0015c0049 a0017c0047	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(15): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0013 a0001c0002t0033 a0001c0003t0006 a0001c0003t0007 a0001c0003t0010 a0001c0007t0003 a0001c0013t0009 a0001c0013t0014 a0001c0017t0006 a0001c0018t0003 a0002c0001t0001 a0007c0016t0007 a0015c0049t0002 a0017c0047t0006	a0001c0002t0001g0035 a0001c0002t0001g0039 a0001c0002t0001g0057 others(31): Show a0001c0002t0001g0035 a0001c0002t0001g0039 a0001c0002t0001g0057 a0001c0002t0001g0060 a0001c0002t0001g0072 a0001c0002t0001g0103 a0001c0002t0001g0238 a0001c0002t0002g0046 a0001c0002t0004g0067 a0001c0002t0004g0070 a0001c0002t0004g0073 a0001c0002t0005g0024 a0001c0002t0013g0128 a0001c0002t0033g0025 a0001c0003t0006g0112 a0001c0003t0006g0136 a0001c0003t0007g0106 a0001c0003t0010g0134 a0001c0007t0003g0027 a0001c0007t0003g0037 a0001c0007t0003g0038 a0001c0007t0003g0041 a0001c0007t0003g0044 a0001c0007t0003g0045 a0001c0007t0003g0074 a0001c0007t0003g0225 a0001c0013t0009g0099 a0001c0013t0014g0158 a0001c0017t0006g0122 a0001c0018t0003g0049 a0002c0001t0001g0036 a0007c0016t0007g0062 a0015c0049t0002g0100 a0017c0047t0006g0116	34	248	0.1371	22	c.107 others(39): Show c.1071-839_1071-818dupTGTGTGTGTGTGTGTGTGTGTG	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	7/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	138094457	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAGAAG	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0051 a0001c0012t0001g0051	1	248	0.0040	22	c.509 others(41): Show c.5095-2025_5095-2024insAAAAAAAAAAAAAAAAGAAGAA	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	36/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	138118339	T T	TTGAGACT others(15): Show TTGAGACTGGGGTGGGGGACGTG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0043 a0001c0003t0043	a0001c0003t0043g0127 a0001c0003t0043g0127	1	248	0.0040	22	c.591 others(39): Show c.5913+275_5914-275dupGACGTGTGAGACTGGGGTGGGG	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	43/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1C_chr12_2047987_2702950	2318903	G G	GAGAGAAG others(15): Show GAGAGAAGGAGAGGGAGGAGAGC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0003 a0003	a0003c0023 a0003c0023	a0003c0023t0011 a0003c0023t0011	a0003c0023t0011g0048 a0003c0023t0011g0048	1	104	0.0096	22	c.478 others(43): Show c.478-130070_478-130049dupAGAAGGAGAGGGAGGAGAGCAG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2380030	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0104 a0001c0001t0004g0104	1	104	0.0096	22	c.478 others(41): Show c.478-68932_478-68931insAAAAAAAAAAAAAAAAAAAAAA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2420102	G G	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp2 HG03239.hp2 others(1): Show HG03041.hp1 HG03041.hp2 HG03239.hp2 HG03516.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0003 a0001c0004 others(1): Show a0001c0002 a0001c0003 a0001c0004 a0003c0035	a0001c0002t0001 a0001c0003t0037 a0001c0004t0004 others(1): Show a0001c0002t0001 a0001c0003t0037 a0001c0004t0004 a0003c0035t0025	a0001c0002t0001g0026 a0001c0003t0037g0003 a0001c0004t0004g0086 others(1): Show a0001c0002t0001g0026 a0001c0003t0037g0003 a0001c0004t0004g0086 a0003c0035t0025g0078	4	104	0.0385	22	c.478 others(41): Show c.478-28849_478-28828dupGTGTGTGTGTGTGTGTGTGTGT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2497969	T T	TCACACAC others(15): Show TCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01993.hp2 NA18966.hp2 NA21309.hp1 HG01993.hp2 NA18966.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0014 a0001c0002 a0001c0003 a0001c0014	a0001c0002t0003 a0001c0003t0009 a0001c0014t0032 a0001c0002t0003 a0001c0003t0009 a0001c0014t0032	a0001c0002t0003g0056 a0001c0003t0009g0085 a0001c0014t0032g0023 a0001c0002t0003g0056 a0001c0003t0009g0085 a0001c0014t0032g0023	3	104	0.0289	22	c.111 others(41): Show c.1113+4596_1113+4617dupCACACACACACACACACACACA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	7/46		INFO_REALIGN_3_PRIME	chr12	TogoVar

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