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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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
C7orf33_chr7_148585766_148620860	148598753	TATATATA others(23): Show TATATATATATAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02886.hp2 HG02451.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0004 a0001c0001t0001 a0001c0004t0004	a0001c0001t0001g0388 a0001c0004t0004g0351 a0001c0001t0001g0388 a0001c0004t0004g0351	2	444	0.0045	-30	c.204 others(47): Show c.204+7626_204+7655delTATATATATAGAGAGAGAGAGAGAGAGA GA	C7orf33	ENSG00000170279.3	transcript	ENST00000307003.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
C7orf33_chr7_148585766_148620860	148598755	TATATATA others(23): Show TATATATATAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0377 a0001c0001t0001g0378 a0001c0001t0001g0377 a0001c0001t0001g0378	2	444	0.0045	-30	c.204 others(47): Show c.204+7628_204+7657delTATATATAGAGAGAGAGAGAGAGAGAGA GA	C7orf33	ENSG00000170279.3	transcript	ENST00000307003.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
C7orf50_chr7_992006_1143247	1016206	CCAGCACA others(23): Show CCAGCACACAGCAGCACACGCCAGCACACAG	C C	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0166 a0001c0001t0008g0166	1	326	0.0031	-30	c.130 others(47): Show c.130-6093_130-6064delCTGTGTGCTGGCGTGTGCTGCTGTGTGC TG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1023624	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0006 a0008c0009t0006	a0008c0009t0006g0003 a0008c0009t0006g0003	1	326	0.0031	-30	c.130 others(49): Show c.130-13511_130-13482delGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1028882	TCCCCAGT others(23): Show TCCCCAGTCTGACTCCATGTCCCCCCATCTC	T T	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18999.hp1 NA18962.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0181 a0001c0001t0004g0197 a0001c0001t0004g0181 a0001c0001t0004g0197	2	326	0.0061	-30	c.130 others(49): Show c.130-18769_130-18740delGAGATGGGGGGACATGGAGTCAGACT GGGG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1036410	CTCGGGTG others(23): Show CTCGGGTGCTCGTGGTGTGGCCGTGTAGGGT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01071.hp2 HG01074.hp2 others(12): Show HG00741.hp1 HG01071.hp2 HG01074.hp2 HG01109.hp1 HG01168.hp1 HG01169.hp1 HG01515.hp2 HG01884.hp2 HG01978.hp1 HG01981.hp2 HG02602.hp1 HG02615.hp1 HG02735.hp2 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0010 a0001c0001t0007 a0001c0001t0010	a0001c0001t0007g0124 a0001c0001t0007g0126 a0001c0001t0007g0127 others(12): Show a0001c0001t0007g0124 a0001c0001t0007g0126 a0001c0001t0007g0127 a0001c0001t0007g0129 a0001c0001t0007g0135 a0001c0001t0007g0146 a0001c0001t0010g0120 a0001c0001t0010g0121 a0001c0001t0010g0122 a0001c0001t0010g0123 a0001c0001t0010g0125 a0001c0001t0010g0134 a0001c0001t0010g0136 a0001c0001t0010g0138 a0001c0001t0010g0149	15	326	0.0460	-30	c.130 others(49): Show c.130-26297_130-26268delACCCTACACGGCCACACCACGAGCAC CCGA	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C8orf34_chr8_68325955_68824023	68401629	CTTTTCTT others(23): Show CTTTTCTTCATCTCTTGAAATGGCCATTTGT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00735.hp1 HG01071.hp1 others(81): Show HG00558.hp2 HG00735.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01243.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01978.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02486.hp1 HG02486.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03453.hp1 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18961.hp2 NA18983.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19062.hp1 NA19062.hp2 NA19084.hp1 NA19084.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0009 a0010	a0001c0001 a0001c0002 a0001c0005 others(8): Show a0001c0001 a0001c0002 a0001c0005 a0001c0014 a0002c0003 a0002c0004 a0002c0007 a0003c0006 a0003c0008 a0009c0015 a0010c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0001c0014t0004 a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 a0002c0004t0001 a0002c0004t0002 a0002c0007t0001 a0002c0007t0003 a0003c0006t0001 a0003c0006t0004 a0003c0008t0001 a0009c0015t0002 a0010c0016t0001	a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0012 others(81): Show a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0002g0016 a0001c0001t0002g0022 a0001c0001t0002g0025 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0088 a0001c0001t0003g0023 a0001c0001t0003g0077 a0001c0001t0003g0112 a0001c0001t0003g0114 a0001c0001t0004g0074 a0001c0001t0004g0111 a0001c0001t0005g0117 a0001c0001t0006g0127 a0001c0001t0008g0089 a0001c0002t0001g0007 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0084 a0001c0002t0001g0093 a0001c0002t0001g0096 a0001c0002t0001g0101 a0001c0002t0002g0006 a0001c0002t0002g0014 a0001c0002t0002g0018 a0001c0002t0002g0085 a0001c0002t0004g0063 a0001c0005t0001g0043 a0001c0005t0001g0044 a0001c0005t0002g0042 a0001c0005t0003g0046 a0001c0014t0004g0008 a0002c0003t0001g0027 a0002c0003t0001g0028 a0002c0003t0001g0031 a0002c0003t0001g0034 a0002c0003t0001g0086 a0002c0003t0001g0087 a0002c0003t0002g0015 a0002c0003t0002g0026 a0002c0003t0002g0039 a0002c0003t0002g0109 a0002c0003t0005g0062 a0002c0003t0005g0073 a0002c0004t0001g0019 a0002c0004t0001g0020 a0002c0004t0001g0048 a0002c0004t0001g0099 a0002c0004t0001g0100 a0002c0004t0002g0121 a0002c0007t0001g0045 a0002c0007t0003g0041 a0003c0006t0001g0122 a0003c0006t0001g0125 a0003c0006t0004g0124 a0003c0008t0001g0123 a0009c0015t0002g0080 a0010c0016t0001g0013	84	128	0.6563	-30	c.328 others(49): Show c.328-37861_328-37832delATCTCTTGAAATGGCCATTTGTTTTT CTTC	C8orf34	ENSG00000165084.16	transcript	ENST00000518698.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
CA10_chr17_51625320_52163714	51878829	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	156	0.0064	-30	c.279 others(49): Show c.279+52131_279+52160delATATATATATATATATATATATATAT ATAT	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8			chr17	TogoVar
CA10_chr17_51625320_52163714	52120413	ACCTTATC others(23): Show ACCTTATCCTTATCCTTATCCTTATCCTTAT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0112 a0001c0001t0010g0112	1	156	0.0064	-30	c.61+ others(47): Show c.61+37283_61+37312delATAAGGATAAGGATAAGGATAAGGATAA GG	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	1/8			chr17	TogoVar
CA13_chr8_85240458_85289073	85242632	AACATGGT others(23): Show AACATGGTGAAATCCCGTCTCTTCTAAAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG03471.hp1 NA18522.hp2 HG02055.hp1 HG03471.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069	3	350	0.0086	-30	c.-31 others(41): Show c.-3196_-3167delACATGGTGAAATCCCGTCTCTTCTAAAAAT	CA13	ENSG00000185015.8	transcript	ENST00000321764.4	protein_coding		2825		chr8	TogoVar
CA6_chr1_8940868_8980092	8973712	CTTTCTTT others(23): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0257 a0001c0006t0002g0257	1	452	0.0022	-30	c.845 others(45): Show c.845-908_845-879delTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
CABIN1_chr22_24006304_24183628	24011133	ACGCGCAC others(23): Show ACGCGCACGCGCGCACACACGCGCACACACG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp1 NA18981.hp1 NA18961.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0099 a0001c0001t0001g0055 a0001c0001t0001g0099	2	268	0.0075	-30	c.-30 others(39): Show c.-308_-279delCGCGCACGCGCGCACACACGCGCACACACG	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding		170		chr22	TogoVar
CABLES1_chr18_23130485_23265470	23135487	GAGCCAGC others(23): Show GAGCCAGCGGCCAGGCGACCGGCGGGCGGCC	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01070.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0031 a0001c0001t0030 a0001c0001t0031	a0001c0001t0030g0028 a0001c0001t0031g0027 a0001c0001t0030g0028 a0001c0001t0031g0027	2	278	0.0072	-30	c.-26 others(39): Show c.-267_-238delGCCAGGCGACCGGCGGGCGGCCAGCCAGCG	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	1/10	238	INFO_REALIGN_3_PRIME	chr18	TogoVar
CABP1_chr12_120635626_120672324	120669472	CAGGAACA others(23): Show CAGGAACACCACTCAGGATAGACTTAGGGAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	418	0.0024	-30	c.25 others(41): Show c.2573_*2602delAGGAACACCACTCAGGATAGACTTAGGGAT	CABP1	ENSG00000157782.10	transcript	ENST00000316803.8	protein_coding		2149		chr12	TogoVar
CACHD1_chr1_64465129_64698053	64466165	TACATACA others(23): Show TACATACACATGTATACACGTGTATATATAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	166	0.0060	-30	c.-45 others(41): Show c.-4579_-4550delACATACACATGTATACACGTGTATATATAC	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding		3963		chr1	TogoVar
CACHD1_chr1_64465129_64698053	64466200	ACACATGT others(23): Show ACACATGTATACACGTGTATATATACACATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp2 NA18962.hp2 NA19002.hp1 others(1): Show NA18955.hp2 NA18962.hp2 NA19002.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0058 a0001c0001t0006g0065 a0001c0001t0006g0075 others(1): Show a0001c0001t0001g0058 a0001c0001t0006g0065 a0001c0001t0006g0075 a0001c0001t0006g0133	4	166	0.0241	-30	c.-45 others(41): Show c.-4544_-4515delCACATGTATACACGTGTATATATACACATG	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding		3928		chr1	TogoVar
CACNA1A_chr19_13201442_13511479	13346638	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG03139.hp2 HG01099.hp1 HG03139.hp2	a0003 a0022 a0003 a0022	a0003c0039 a0022c0095 a0003c0039 a0022c0095	a0003c0039t0009 a0022c0095t0003 a0003c0039t0009 a0022c0095t0003	a0003c0039t0009g0075 a0022c0095t0003g0183 a0003c0039t0009g0075 a0022c0095t0003g0183	2	218	0.0092	-30	c.979 others(49): Show c.979-10759_979-10730delAATATATATATATATATATATATATA TATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13346640	ATATATAT others(23): Show ATATATATATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG01169.hp2 NA18955.hp2 NA18980.hp2 others(2): Show HG01169.hp2 NA18955.hp2 NA18980.hp2 NA19000.hp2 NA19065.hp1	a0002 a0003 a0006 others(1): Show a0002 a0003 a0006 a0008	a0002c0003 a0003c0013 a0006c0011 others(1): Show a0002c0003 a0003c0013 a0006c0011 a0008c0008	a0002c0003t0003 a0002c0003t0007 a0003c0013t0007 others(2): Show a0002c0003t0003 a0002c0003t0007 a0003c0013t0007 a0006c0011t0003 a0008c0008t0002	a0002c0003t0003g0127 a0002c0003t0007g0086 a0003c0013t0007g0041 others(2): Show a0002c0003t0003g0127 a0002c0003t0007g0086 a0003c0013t0007g0041 a0006c0011t0003g0070 a0008c0008t0002g0033	5	218	0.0229	-30	c.979 others(49): Show c.979-10761_979-10732delAAAATATATATATATATATATATATA TATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13346642	ATATATAT others(23): Show ATATATATATATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00544.hp1 others(22): Show HG00099.hp2 HG00140.hp2 HG00544.hp1 HG00639.hp1 HG00738.hp1 HG01081.hp2 HG01099.hp2 HG01192.hp1 HG01255.hp2 HG01256.hp1 HG01261.hp1 HG01516.hp1 HG01978.hp1 HG01981.hp1 HG02040.hp1 HG02083.hp2 HG04184.hp2 NA18946.hp2 NA18964.hp2 NA18973.hp1 NA18977.hp2 NA18995.hp2 NA19012.hp1 NA19084.hp1 NA20752.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010 a0011 a0013 a0030 a0038	a0001c0001 a0001c0005 a0001c0020 others(20): Show a0001c0001 a0001c0005 a0001c0020 a0001c0120 a0002c0003 a0002c0019 a0002c0070 a0002c0082 a0002c0086 a0003c0013 a0004c0080 a0005c0022 a0005c0024 a0006c0060 a0008c0008 a0008c0012 a0009c0051 a0009c0076 a0010c0053 a0011c0025 a0013c0089 a0030c0062 a0038c0044	a0001c0001t0001 a0001c0005t0001 a0001c0020t0001 others(21): Show a0001c0001t0001 a0001c0005t0001 a0001c0020t0001 a0001c0120t0004 a0002c0003t0002 a0002c0003t0003 a0002c0019t0003 a0002c0070t0007 a0002c0082t0003 a0002c0086t0003 a0003c0013t0018 a0004c0080t0009 a0005c0022t0004 a0005c0024t0006 a0006c0060t0002 a0008c0008t0002 a0008c0012t0003 a0009c0051t0002 a0009c0076t0002 a0010c0053t0003 a0011c0025t0001 a0013c0089t0001 a0030c0062t0002 a0038c0044t0005	a0001c0001t0001g0115 a0001c0005t0001g0187 a0001c0020t0001g0051 others(22): Show a0001c0001t0001g0115 a0001c0005t0001g0187 a0001c0020t0001g0051 a0001c0120t0004g0014 a0002c0003t0002g0113 a0002c0003t0003g0061 a0002c0019t0003g0009 a0002c0070t0007g0102 a0002c0082t0003g0058 a0002c0086t0003g0035 a0003c0013t0018g0063 a0004c0080t0009g0129 a0005c0022t0004g0092 a0005c0024t0006g0117 a0006c0060t0002g0016 a0008c0008t0002g0099 a0008c0012t0003g0015 a0008c0012t0003g0091 a0009c0051t0002g0184 a0009c0076t0002g0108 a0010c0053t0003g0186 a0011c0025t0001g0093 a0013c0089t0001g0143 a0030c0062t0002g0124 a0038c0044t0005g0175	25	218	0.1147	-30	c.979 others(49): Show c.979-10763_979-10734delAAAAAATATATATATATATATATATA TATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13346644	ATATATAT others(23): Show ATATATATATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02559.hp2 HG04228.hp2 others(3): Show HG01934.hp2 HG02559.hp2 HG04228.hp2 NA18944.hp2 NA18948.hp1 NA18998.hp1	a0002 a0005 a0006 others(2): Show a0002 a0005 a0006 a0008 a0013	a0002c0003 a0005c0024 a0006c0011 others(2): Show a0002c0003 a0005c0024 a0006c0011 a0008c0008 a0013c0027	a0002c0003t0003 a0005c0024t0008 a0006c0011t0002 others(2): Show a0002c0003t0003 a0005c0024t0008 a0006c0011t0002 a0008c0008t0002 a0013c0027t0001	a0002c0003t0003g0166 a0005c0024t0008g0214 a0006c0011t0002g0133 others(3): Show a0002c0003t0003g0166 a0005c0024t0008g0214 a0006c0011t0002g0133 a0008c0008t0002g0125 a0013c0027t0001g0118 a0013c0027t0001g0179	6	218	0.0275	-30	c.979 others(49): Show c.979-10765_979-10736delAAAAAAAATATATATATATATATATA TATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13346646	ATATATAT others(23): Show ATATATATATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03942.hp2 NA18977.hp1 HG03942.hp2 NA18977.hp1	a0029 a0040 a0029 a0040	a0029c0063 a0040c0069 a0029c0063 a0040c0069	a0029c0063t0002 a0040c0069t0014 a0029c0063t0002 a0040c0069t0014	a0029c0063t0002g0196 a0040c0069t0014g0040 a0029c0063t0002g0196 a0040c0069t0014g0040	2	218	0.0092	-30	c.979 others(49): Show c.979-10767_979-10738delAAAAAAAAAATATATATATATATATA TATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13406465	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0029 a0029	a0029c0063 a0029c0063	a0029c0063t0002 a0029c0063t0002	a0029c0063t0002g0196 a0029c0063t0002g0196	1	218	0.0046	-30	c.540 others(49): Show c.540-34716_540-34687delTATATATATATATATATATATATATA TATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13497511	AAAAAAAA others(23): Show AAAAAAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0044 a0044	a0044c0112 a0044c0112	a0044c0112t0012 a0044c0112t0012	a0044c0112t0012g0206 a0044c0112t0012g0206	1	218	0.0046	-30	c.293 others(47): Show c.293+8391_293+8420delATATATATATATATATATATTTTTTTTT TT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13497515	AAAAAAAA others(23): Show AAAAAAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp2 HG03195.hp1 HG03195.hp2	a0001 a0018 a0001 a0018	a0001c0096 a0018c0017 a0001c0096 a0018c0017	a0001c0096t0025 a0018c0017t0014 a0001c0096t0025 a0018c0017t0014	a0001c0096t0025g0003 a0018c0017t0014g0212 a0001c0096t0025g0003 a0018c0017t0014g0212	2	218	0.0092	-30	c.293 others(47): Show c.293+8387_293+8416delATATATATATATATATATATATATTTTT TT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13497517	AAAAAATA others(23): Show AAAAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02896.hp1 HG03704.hp2 HG02622.hp2 HG02896.hp1 HG03704.hp2	a0001 a0003 a0021 a0001 a0003 a0021	a0001c0038 a0003c0110 a0021c0092 a0001c0038 a0003c0110 a0021c0092	a0001c0038t0007 a0003c0110t0006 a0021c0092t0016 a0001c0038t0007 a0003c0110t0006 a0021c0092t0016	a0001c0038t0007g0205 a0003c0110t0006g0137 a0021c0092t0016g0203 a0001c0038t0007g0205 a0003c0110t0006g0137 a0021c0092t0016g0203	3	218	0.0138	-30	c.293 others(47): Show c.293+8385_293+8414delATATATATATATATATATATATATATTT TT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13497521	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0003 a0003	a0003c0035 a0003c0035	a0003c0035t0024 a0003c0035t0024	a0003c0035t0024g0005 a0003c0035t0024g0005	1	218	0.0046	-30	c.293 others(47): Show c.293+8381_293+8410delATATATATATATATATATATATATATAT AT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46			chr19	TogoVar
CACNA1B_chr9_137872782_138129619	138125983	CCGTGCTA others(23): Show CCGTGCTACCCACCCCCCCTTAAAAATCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0016 a0016	a0016c0030 a0016c0030	a0016c0030t0003 a0016c0030t0003	a0016c0030t0003g0097 a0016c0030t0003g0097	1	248	0.0040	-30	c.39 others(41): Show c.3985_*4014delCGTGCTACCCACCCCCCCTTAAAAATCCCT	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding		1365		chr9	TogoVar
CACNA1C_chr12_2047987_2702950	2558326	GTTAGGGC others(23): Show GTTAGGGCATCCACTGCTGGAGTCCATGCCC	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02896.hp2 HG02897.hp1 others(3): Show HG01106.hp2 HG02896.hp2 HG02897.hp1 HG02970.hp1 HG03225.hp2 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0001c0036 others(1): Show a0001c0001 a0001c0007 a0001c0036 a0002c0009	a0001c0001t0004 a0001c0001t0017 a0001c0007t0006 others(2): Show a0001c0001t0004 a0001c0001t0017 a0001c0007t0006 a0001c0036t0007 a0002c0009t0012	a0001c0001t0004g0008 a0001c0001t0017g0101 a0001c0007t0006g0074 others(3): Show a0001c0001t0004g0008 a0001c0001t0017g0101 a0001c0007t0006g0074 a0001c0036t0007g0100 a0002c0009t0012g0061 a0002c0009t0012g0062	6	104	0.0577	-30	c.150 others(49): Show c.1508+1381_1508+1410delTAGGGCATCCACTGCTGGAGTCCATG CCCT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	11/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1D_chr3_53489611_53818733	53520870	CTTTCTTT others(23): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0016 a0001c0017t0016	a0001c0017t0016g0112 a0001c0017t0016g0112	1	210	0.0048	-30	c.483 others(49): Show c.483+19158_483+19187delCTTTCTTTCTTTCTTTCTTTTCTTTT CTTT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	3/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53672758	CTGTGTGT others(23): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0066 a0001c0001t0047g0066	1	210	0.0048	-30	c.111 others(47): Show c.1117-923_1117-894delGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	7/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53713494	CTGTGTGT others(23): Show CTGTGTGTATGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0076 a0001c0009t0076	a0001c0009t0076g0032 a0001c0009t0076g0032	1	210	0.0048	-30	c.139 others(49): Show c.1391-4799_1391-4770delATGTGTGTGTGTGTGTGTGTGTGTGT GTGT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	9/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53805805	TATCTTCC others(23): Show TATCTTCCCTCCTCCTCCTCCATCTTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0034 a0001c0001t0071g0034	1	210	0.0048	-30	c.580 others(47): Show c.5809+660_5809+689delATCTTCCCTCCTCCTCCTCCATCTTCCC TC	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	46/48			chr3	TogoVar
CACNA1F_chrX_49200063_49238340	49229712	GGGTTCAC others(23): Show GGGTTCACGCCATTCTCCTGCCTCAGCCTCA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp2 HG01070.hp2 others(32): Show HG00738.hp1 HG00741.hp2 HG01070.hp2 HG01081.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG02055.hp1 HG02109.hp2 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02622.hp2 HG02647.hp1 HG02723.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG02976.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03453.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA19043.hp1	a0003 a0004 a0003 a0004	a0003c0004 a0003c0029 a0004c0005 others(1): Show a0003c0004 a0003c0029 a0004c0005 a0004c0007	a0003c0004t0001 a0003c0029t0001 a0004c0005t0001 others(1): Show a0003c0004t0001 a0003c0029t0001 a0004c0005t0001 a0004c0007t0001	a0003c0004t0001g0006 a0003c0004t0001g0036 a0003c0004t0001g0037 others(21): Show a0003c0004t0001g0006 a0003c0004t0001g0036 a0003c0004t0001g0037 a0003c0004t0001g0163 a0003c0004t0001g0164 a0003c0004t0001g0165 a0003c0004t0001g0167 a0003c0004t0001g0168 a0003c0004t0001g0169 a0003c0004t0001g0170 a0003c0004t0001g0171 a0003c0004t0001g0172 a0003c0004t0001g0173 a0003c0029t0001g0166 a0004c0005t0001g0013 a0004c0005t0001g0051 a0004c0005t0001g0052 a0004c0005t0001g0053 a0004c0005t0001g0054 a0004c0005t0001g0055 a0004c0007t0001g0047 a0004c0007t0001g0048 a0004c0007t0001g0049 a0004c0007t0001g0050	35	290	0.1207	-30	c.817 others(45): Show c.817+478_817+507delTGAGGCTGAGGCAGGAGAATGGCGTGAACC	CACNA1F	ENSG00000102001.13	transcript	ENST00000323022.10	protein_coding	6/47			chrX	TogoVar
CACNA1H_chr16_1148106_1226768	1157968	GCCTTGCC others(23): Show GCCTTGCCCGTGGCGCCCTTGCCCGTGGCAC	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA20129.hp2 HG02451.hp1 NA20129.hp2	a0017 a0026 a0017 a0026	a0017c0066 a0026c0128 a0017c0066 a0026c0128	a0017c0066t0025 a0026c0128t0040 a0017c0066t0025 a0026c0128t0040	a0017c0066t0025g0232 a0026c0128t0040g0014 a0017c0066t0025g0232 a0026c0128t0040g0014	2	338	0.0059	-30	c.299 others(47): Show c.299+3957_299+3986delTGGCACCCTTGCCCGTGGCGCCCTTGCC CG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA2D3_chr3_54117552_55079557	54811465	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp2 HG03453.hp2 HG02258.hp2 HG02280.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0001 a0001c0007t0001 a0001c0002t0001 a0001c0007t0001	a0001c0002t0001g0039 a0001c0007t0001g0043 a0001c0007t0001g0067 a0001c0002t0001g0039 a0001c0007t0001g0043 a0001c0007t0001g0067	3	118	0.0254	-30	c.138 others(49): Show c.1381-5367_1381-5338delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	13/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNB2_chr10_18135424_18548557	18220110	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	200	0.0050	-30	c.213 others(49): Show c.213+69151_213+69180delTATATATATATATATATATATATATA TATA	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18282056	GGCCCCCT others(23): Show GGCCCCCTGGAAGATGTACCAAAACCTTCCA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02145.hp1 HG02622.hp1 others(5): Show HG02109.hp1 HG02145.hp1 HG02622.hp1 HG02965.hp1 HG02970.hp2 HG03209.hp2 HG03225.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0040 a0001c0002t0002 a0002c0003t0013 a0002c0003t0024	a0001c0001t0001g0058 a0001c0001t0003g0026 a0001c0001t0006g0023 others(5): Show a0001c0001t0001g0058 a0001c0001t0003g0026 a0001c0001t0006g0023 a0001c0001t0006g0174 a0001c0001t0040g0021 a0001c0002t0002g0184 a0002c0003t0013g0022 a0002c0003t0024g0110	8	200	0.0400	-30	c.214 others(51): Show c.214-119866_214-119837delCCCCCTGGAAGATGTACCAAAACC TTCCAG	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18358523	TCTCTCTC others(23): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCG	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01891.hp1 HG02055.hp1 others(3): Show HG00738.hp1 HG01891.hp1 HG02055.hp1 HG02109.hp2 HG03486.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0007 a0001c0001t0035 others(1): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0035 a0001c0002t0002	a0001c0001t0003g0044 a0001c0001t0003g0193 a0001c0001t0007g0188 others(3): Show a0001c0001t0003g0044 a0001c0001t0003g0193 a0001c0001t0007g0188 a0001c0001t0007g0189 a0001c0001t0035g0086 a0001c0002t0002g0004	6	200	0.0300	-30	c.214 others(49): Show c.214-43382_214-43353delCTCTCTCTCTCGCTCTCTCTCTCTCT CTCT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18442968	ATGTGTAT others(23): Show ATGTGTATATATATATATGTATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00438.hp1 others(4): Show HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00609.hp1 HG01257.hp2 HG01258.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0023 a0001c0001t0047 others(3): Show a0001c0001t0001 a0001c0001t0023 a0001c0001t0047 a0001c0002t0002 a0001c0002t0005 a0001c0002t0060	a0001c0001t0001g0171 a0001c0001t0023g0191 a0001c0001t0023g0192 others(4): Show a0001c0001t0001g0171 a0001c0001t0023g0191 a0001c0001t0023g0192 a0001c0001t0047g0001 a0001c0002t0002g0106 a0001c0002t0005g0105 a0001c0002t0060g0155	7	200	0.0350	-30	c.333 others(49): Show c.333+40929_333+40958delGTATATATATATATGTATATATATAT GTGT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18442986	GTATATAT others(23): Show GTATATATATATGTGTATATATATATATGTA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02040.hp1 HG02148.hp2 others(4): Show HG00642.hp2 HG02040.hp1 HG02148.hp2 HG02886.hp1 HG02895.hp1 HG06807.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0003 a0001c0001t0004 a0001c0002t0002 others(2): Show a0001c0001t0003 a0001c0001t0004 a0001c0002t0002 a0001c0002t0034 a0002c0003t0013	a0001c0001t0003g0108 a0001c0001t0003g0115 a0001c0001t0004g0152 others(4): Show a0001c0001t0003g0108 a0001c0001t0003g0115 a0001c0001t0004g0152 a0001c0002t0002g0059 a0001c0002t0002g0061 a0001c0002t0034g0068 a0002c0003t0013g0109	7	200	0.0350	-30	c.333 others(49): Show c.333+40955_333+40984delGTGTATATATATATATGTATATATAT ATAT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18481204	ATATATAT others(23): Show ATATATATATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0049 a0001c0006t0049	a0001c0006t0049g0076 a0001c0006t0049g0076	1	200	0.0050	-30	c.334 others(49): Show c.334-17149_334-17120delATATATATATATATATATATATATAT TTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18481206	ATATATAT others(23): Show ATATATATATATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02723.hp1 HG02572.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0048 a0001c0001t0008 a0001c0001t0048	a0001c0001t0008g0007 a0001c0001t0048g0195 a0001c0001t0008g0007 a0001c0001t0048g0195	2	200	0.0100	-30	c.334 others(49): Show c.334-17147_334-17118delATATATATATATATATATATATATTT TTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18358523	TCTCTCTC others(23): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00738.hp2 others(7): Show HG00099.hp2 HG00140.hp2 HG00738.hp2 HG01081.hp2 HG01099.hp1 HG01891.hp2 HG02055.hp1 HG02109.hp1 HG03486.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0025 a0001c0002t0002 a0002c0003t0018 a0002c0003t0035	a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0003g0277 others(7): Show a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0003g0277 a0001c0001t0003g0280 a0001c0001t0010g0287 a0001c0001t0010g0289 a0001c0001t0025g0241 a0001c0002t0002g0288 a0002c0003t0018g0211 a0002c0003t0035g0275	10	302	0.0331	-30	c.51+ others(47): Show c.51+17565_51+17594delCTCTCTCTCTCGCTCTCTCTCTCTCTCT CT	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18442968	ATGTGTAT others(23): Show ATGTGTATATATATATATGTATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00438.hp1 others(15): Show HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00609.hp2 HG01257.hp2 HG01258.hp1 HG02135.hp2 HG02698.hp1 HG03654.hp2 HG04184.hp2 NA18945.hp2 NA18955.hp2 NA18979.hp1 NA18982.hp2 NA18984.hp2 NA19007.hp2 NA19080.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0022 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0022 a0001c0001t0058 a0001c0001t0060 a0001c0001t0064 a0001c0002t0002 a0001c0002t0004 a0001c0002t0054	a0001c0001t0001g0031 a0001c0001t0001g0121 a0001c0001t0001g0196 others(15): Show a0001c0001t0001g0031 a0001c0001t0001g0121 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0003g0268 a0001c0001t0022g0036 a0001c0001t0022g0038 a0001c0001t0058g0032 a0001c0001t0060g0123 a0001c0001t0064g0050 a0001c0002t0002g0039 a0001c0002t0002g0045 a0001c0002t0002g0193 a0001c0002t0002g0197 a0001c0002t0004g0087 a0001c0002t0004g0135 a0001c0002t0004g0194 a0001c0002t0054g0295	18	302	0.0596	-30	c.171 others(49): Show c.171+40929_171+40958delGTATATATATATATGTATATATATAT GTGT	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18442986	GTATATAT others(23): Show GTATATATATATGTGTATATATATATATGTA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp1 HG02040.hp2 others(4): Show HG00639.hp2 HG00642.hp1 HG02040.hp2 HG02148.hp1 HG02886.hp2 HG02895.hp2 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0030 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0030 a0001c0002t0002 a0002c0003t0013	a0001c0001t0001g0297 a0001c0001t0003g0051 a0001c0001t0003g0269 others(4): Show a0001c0001t0001g0297 a0001c0001t0003g0051 a0001c0001t0003g0269 a0001c0001t0030g0071 a0001c0002t0002g0270 a0001c0002t0002g0271 a0002c0003t0013g0189	7	302	0.0232	-30	c.171 others(49): Show c.171+40955_171+40984delGTGTATATATATATATGTATATATAT ATAT	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18481204	ATATATAT others(23): Show ATATATATATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0068 a0001c0008t0068	a0001c0008t0068g0066 a0001c0008t0068g0066	1	302	0.0033	-30	c.172 others(49): Show c.172-17149_172-17120delATATATATATATATATATATATATAT TTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18481206	ATATATAT others(23): Show ATATATATATATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02723.hp1 HG02572.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0061 a0001c0001t0007 a0001c0001t0061	a0001c0001t0007g0179 a0001c0001t0061g0180 a0001c0001t0007g0179 a0001c0001t0061g0180	2	302	0.0066	-30	c.172 others(49): Show c.172-17147_172-17118delATATATATATATATATATATATATTT TTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB4_chr2_151827771_152104044	152092402	ATTCTAGT others(23): Show ATTCTAGTATCAACCTAAAAATCTGAATGTT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0203 a0001c0001t0005g0203	1	230	0.0044	-30	c.147 others(47): Show c.147+5898_147+5927delAACATTCAGATTTTTAGGTTGATACTAG AA	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	2/13			chr2	TogoVar
CACNG2_chr22_36555857_36708752	36609657	GCCCCCCA others(23): Show GCCCCCCAGAGCGTGATCGGGCAGGAATCAA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02257.hp2 HG02451.hp1 others(16): Show HG01884.hp1 HG02257.hp2 HG02451.hp1 HG02572.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03453.hp1 HG06807.hp1 HG06807.hp2 NA20129.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 others(10): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 a0001c0001t0018 a0001c0001t0020 a0001c0001t0050 a0001c0001t0051 a0001c0001t0054 a0001c0001t0056 a0001c0001t0065 a0001c0001t0077 a0001c0001t0087 a0001c0001t0094	a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0035 others(16): Show a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0035 a0001c0001t0002g0047 a0001c0001t0002g0050 a0001c0001t0008g0150 a0001c0001t0011g0102 a0001c0001t0018g0028 a0001c0001t0018g0036 a0001c0001t0020g0100 a0001c0001t0020g0101 a0001c0001t0050g0096 a0001c0001t0051g0095 a0001c0001t0054g0103 a0001c0001t0056g0105 a0001c0001t0065g0117 a0001c0001t0077g0140 a0001c0001t0087g0186 a0001c0001t0094g0193	19	214	0.0888	-30	c.212 others(49): Show c.212-22139_212-22110delTTGATTCCTGCCCGATCACGCTCTGG GGGG	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding	1/3			chr22	TogoVar
CACNG4_chr17_66959707_67038398	66968623	CCCTCCTC others(23): Show CCCTCCTCCTCTCCCTCCTCTCCCCTCCCCT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp2 HG02572.hp1 others(10): Show HG01109.hp2 HG01884.hp2 HG02572.hp1 HG02622.hp1 HG02630.hp2 HG02809.hp1 HG02886.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp2 HG03486.hp1 HG03579.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0014 a0001c0001t0019 others(2): Show a0001c0001t0006 a0001c0001t0014 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021	a0001c0001t0006g0239 a0001c0001t0006g0240 a0001c0001t0006g0241 others(9): Show a0001c0001t0006g0239 a0001c0001t0006g0240 a0001c0001t0006g0241 a0001c0001t0006g0242 a0001c0001t0006g0243 a0001c0001t0006g0245 a0001c0001t0006g0248 a0001c0001t0006g0249 a0001c0001t0014g0008 a0001c0001t0019g0247 a0001c0001t0020g0246 a0001c0001t0021g0244	13	352	0.0369	-30	c.220 others(47): Show c.220+3500_220+3529delCTCTCCCTCCTCTCCCCTCCCCTCCTCC TC	CACNG4	ENSG00000075461.6	transcript	ENST00000262138.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr17	TogoVar

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