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
CACHD1_chr1_64465129_64698053	64543402	C C	CATATATA others(1): Show CATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02630.hp1 HG02717.hp2 others(2): Show HG02572.hp2 HG02630.hp1 HG02717.hp2 HG02886.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0007 a0001c0001t0018 others(2): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0018 a0001c0002t0001 a0001c0002t0002	a0001c0001t0003g0099 a0001c0001t0007g0130 a0001c0001t0018g0101 others(2): Show a0001c0001t0003g0099 a0001c0001t0007g0130 a0001c0001t0018g0101 a0001c0002t0001g0163 a0001c0002t0002g0153	5	166	0.0301	8	c.199 others(25): Show c.199-7175_199-7168dupATATATAT	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(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03098.hp1 HG02257.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0113 a0001c0002t0001g0158 a0001c0001t0001g0113 a0001c0002t0001g0158	2	166	0.0121	8	c.517 others(25): Show c.517+3211_517+3218dupACACACAC	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACHD1_chr1_64465129_64698053	64681541	G G	GGTTTTTT others(1): Show GGTTTTTTT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02056.hp1 HG02135.hp1 others(7): Show HG02040.hp2 HG02056.hp1 HG02135.hp1 HG02280.hp1 HG02922.hp1 HG02976.hp2 HG03130.hp1 HG03139.hp2 NA18906.hp1 NA19002.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(2): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0011	a0001c0002t0001g0085 a0001c0002t0001g0096 a0001c0002t0002g0128 others(7): Show a0001c0002t0001g0085 a0001c0002t0001g0096 a0001c0002t0002g0128 a0001c0002t0002g0137 a0001c0002t0002g0144 a0001c0002t0002g0154 a0001c0002t0004g0030 a0001c0002t0005g0007 a0001c0002t0005g0016 a0001c0002t0011g0145	10	166	0.0602	8	c.348 others(25): Show c.3484+206_3484+207insGTTTTTTT	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	25/26			chr1	TogoVar
CACNA1A_chr19_13201442_13511479	13202280	T T	TTATCTAT others(1): Show TTATCTATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00735.hp2 HG01099.hp1 others(11): Show HG00544.hp2 HG00735.hp2 HG01099.hp1 HG01261.hp1 HG01981.hp1 HG02273.hp2 HG02896.hp1 HG03704.hp2 NA18939.hp1 NA18948.hp1 NA18955.hp1 NA19000.hp2 NA19030.hp1 NA20752.hp1	a0002 a0003 a0008 others(4): Show a0002 a0003 a0008 a0009 a0012 a0021 a0022	a0002c0002 a0002c0003 a0002c0010 others(9): Show a0002c0002 a0002c0003 a0002c0010 a0002c0070 a0002c0085 a0002c0104 a0003c0110 a0008c0008 a0009c0051 a0012c0023 a0021c0092 a0022c0095	a0002c0002t0002 a0002c0003t0002 a0002c0003t0003 others(10): Show a0002c0002t0002 a0002c0003t0002 a0002c0003t0003 a0002c0010t0002 a0002c0070t0007 a0002c0085t0005 a0002c0104t0040 a0003c0110t0006 a0008c0008t0002 a0009c0051t0002 a0012c0023t0003 a0021c0092t0016 a0022c0095t0003	a0002c0002t0002g0020 a0002c0003t0002g0053 a0002c0003t0003g0166 others(11): Show a0002c0002t0002g0020 a0002c0003t0002g0053 a0002c0003t0003g0166 a0002c0010t0002g0054 a0002c0070t0007g0102 a0002c0085t0005g0085 a0002c0104t0040g0156 a0003c0110t0006g0137 a0008c0008t0002g0033 a0008c0008t0002g0099 a0009c0051t0002g0184 a0012c0023t0003g0180 a0021c0092t0016g0203 a0022c0095t0003g0183	14	218	0.0642	8	c.50 others(19): Show c.5032_*5033insGATAGATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding		4161		chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13202287	T T	TCTATCTA others(1): Show TCTATCTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp2 NA19084.hp2 NA19065.hp2 NA19084.hp2	a0003 a0003	a0003c0055 a0003c0116 a0003c0055 a0003c0116	a0003c0055t0044 a0003c0116t0045 a0003c0055t0044 a0003c0116t0045	a0003c0055t0044g0071 a0003c0116t0045g0111 a0003c0055t0044g0071 a0003c0116t0045g0111	2	218	0.0092	8	c.50 others(19): Show c.5025_*5026insGTAGATAG	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding		4154		chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13202316	C C	CTATCTGT others(1): Show CTATCTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 NA18968.hp1 HG02717.hp2 NA18968.hp1	a0003 a0035 a0003 a0035	a0003c0073 a0035c0057 a0003c0073 a0035c0057	a0003c0073t0042 a0035c0057t0020 a0003c0073t0042 a0035c0057t0020	a0003c0073t0042g0026 a0035c0057t0020g0002 a0003c0073t0042g0026 a0035c0057t0020g0002	2	218	0.0092	8	c.49 others(19): Show c.4996_*4997insCACAGATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding		4125		chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13202322	A A	ATCTATCT others(1): Show ATCTATCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01167.hp1 HG01167.hp2 others(14): Show HG01106.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01255.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02040.hp1 HG02273.hp1 HG02280.hp1 HG02602.hp1 HG03688.hp2 HG03942.hp1 HG04115.hp2 NA18973.hp1 NA20752.hp2	a0001 a0003 a0004 others(6): Show a0001 a0003 a0004 a0011 a0013 a0014 a0017 a0027 a0037	a0001c0001 a0001c0004 a0001c0005 others(11): Show a0001c0001 a0001c0004 a0001c0005 a0001c0018 a0001c0026 a0001c0049 a0003c0015 a0004c0007 a0011c0025 a0013c0089 a0014c0115 a0017c0040 a0027c0064 a0037c0087	a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 others(12): Show a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 a0001c0005t0001 a0001c0018t0001 a0001c0026t0031 a0001c0049t0001 a0003c0015t0035 a0004c0007t0004 a0011c0025t0011 a0013c0089t0001 a0014c0115t0004 a0017c0040t0001 a0027c0064t0004 a0037c0087t0001	a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0004g0013 others(14): Show a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0004g0013 a0001c0001t0004g0017 a0001c0004t0001g0080 a0001c0005t0001g0187 a0001c0018t0001g0037 a0001c0026t0031g0104 a0001c0049t0001g0012 a0003c0015t0035g0119 a0004c0007t0004g0105 a0011c0025t0011g0038 a0013c0089t0001g0143 a0014c0115t0004g0066 a0017c0040t0001g0008 a0027c0064t0004g0101 a0037c0087t0001g0103	17	218	0.0780	8	c.49 others(19): Show c.4990_*4991insCAGATAGA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding		4119		chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13212827	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp2 HG02622.hp2 others(2): Show HG02486.hp1 HG02486.hp2 HG02622.hp2 HG02809.hp2 NA18906.hp2	a0001 a0003 a0017 a0001 a0003 a0017	a0001c0004 a0001c0038 a0001c0099 others(2): Show a0001c0004 a0001c0038 a0001c0099 a0003c0094 a0017c0127	a0001c0004t0001 a0001c0038t0007 a0001c0099t0012 others(2): Show a0001c0004t0001 a0001c0038t0007 a0001c0099t0012 a0003c0094t0018 a0017c0127t0001	a0001c0004t0001g0078 a0001c0038t0007g0205 a0001c0099t0012g0029 others(2): Show a0001c0004t0001g0078 a0001c0038t0007g0205 a0001c0099t0012g0029 a0003c0094t0018g0208 a0017c0127t0001g0007	5	218	0.0229	8	c.594 others(23): Show c.5941-95_5941-88dupGTGTGTGT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	40/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13247713	A A	AAAATAAA others(1): Show AAAATAAAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00609.hp1 others(41): Show HG00099.hp1 HG00140.hp2 HG00609.hp1 HG00609.hp2 HG01070.hp1 HG01081.hp2 HG01099.hp1 HG01167.hp1 HG01192.hp1 HG01255.hp2 HG01261.hp1 HG01516.hp1 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG02109.hp1 HG02165.hp1 HG02280.hp2 HG02451.hp1 HG02622.hp2 HG02647.hp2 HG02698.hp1 HG02723.hp2 HG02809.hp2 HG02895.hp1 HG02976.hp1 HG03139.hp2 HG03225.hp1 HG03516.hp1 HG03540.hp1 HG03669.hp1 HG03688.hp2 HG04115.hp2 HG04184.hp1 NA18939.hp1 NA18944.hp1 NA18948.hp2 NA18955.hp1 NA18980.hp1 NA19000.hp2 NA19012.hp2 NA19079.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0015 a0020 a0021 a0022 a0031 a0034 a0042 a0043	a0001c0004 a0001c0018 a0001c0026 others(32): Show a0001c0004 a0001c0018 a0001c0026 a0001c0038 a0001c0071 a0001c0122 a0002c0002 a0002c0003 a0002c0010 a0002c0019 a0002c0086 a0003c0013 a0003c0039 a0003c0046 a0003c0094 a0003c0105 a0003c0108 a0004c0007 a0005c0102 a0006c0029 a0007c0100 a0008c0008 a0008c0012 a0009c0014 a0009c0051 a0010c0053 a0011c0025 a0015c0021 a0020c0078 a0021c0090 a0022c0095 a0031c0061 a0034c0081 a0042c0097 a0043c0091	a0001c0004t0001 a0001c0018t0001 a0001c0026t0001 others(37): Show a0001c0004t0001 a0001c0018t0001 a0001c0026t0001 a0001c0026t0031 a0001c0038t0007 a0001c0071t0013 a0001c0122t0001 a0002c0002t0002 a0002c0002t0006 a0002c0003t0002 a0002c0010t0002 a0002c0019t0002 a0002c0019t0003 a0002c0086t0003 a0003c0013t0027 a0003c0039t0009 a0003c0046t0003 a0003c0094t0018 a0003c0105t0030 a0003c0108t0012 a0004c0007t0010 a0005c0102t0003 a0006c0029t0002 a0007c0100t0017 a0008c0008t0002 a0008c0012t0003 a0009c0014t0002 a0009c0051t0002 a0010c0053t0003 a0011c0025t0001 a0011c0025t0011 a0015c0021t0004 a0015c0021t0010 a0020c0078t0019 a0021c0090t0007 a0022c0095t0003 a0031c0061t0003 a0034c0081t0019 a0042c0097t0005 a0043c0091t0005	a0001c0004t0001g0080 a0001c0004t0001g0199 a0001c0018t0001g0037 others(41): Show a0001c0004t0001g0080 a0001c0004t0001g0199 a0001c0018t0001g0037 a0001c0018t0001g0056 a0001c0026t0001g0144 a0001c0026t0031g0104 a0001c0038t0007g0205 a0001c0071t0013g0138 a0001c0122t0001g0174 a0002c0002t0002g0020 a0002c0002t0002g0130 a0002c0002t0006g0142 a0002c0003t0002g0126 a0002c0010t0002g0054 a0002c0019t0002g0185 a0002c0019t0003g0009 a0002c0086t0003g0035 a0003c0013t0027g0149 a0003c0039t0009g0075 a0003c0046t0003g0116 a0003c0094t0018g0208 a0003c0105t0030g0141 a0003c0108t0012g0211 a0004c0007t0010g0062 a0005c0102t0003g0122 a0006c0029t0002g0197 a0007c0100t0017g0039 a0008c0008t0002g0033 a0008c0012t0003g0015 a0009c0014t0002g0048 a0009c0014t0002g0195 a0009c0051t0002g0184 a0010c0053t0003g0186 a0011c0025t0001g0093 a0011c0025t0011g0038 a0015c0021t0004g0044 a0015c0021t0010g0045 a0020c0078t0019g0151 a0021c0090t0007g0162 a0022c0095t0003g0183 a0031c0061t0003g0106 a0034c0081t0019g0152 a0042c0097t0005g0059 a0043c0091t0005g0027	44	218	0.2018	8	c.486 others(27): Show c.4867-2456_4867-2449dupATTTATTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	30/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13310515	T T	TAGAGAGA others(1): Show TAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp1 HG00735.hp1 others(31): Show HG00140.hp1 HG00438.hp1 HG00735.hp1 HG01070.hp1 HG01109.hp1 HG01192.hp2 HG01496.hp2 HG01952.hp1 HG01975.hp2 HG01993.hp1 HG02280.hp1 HG02451.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02970.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03669.hp2 HG03834.hp2 NA18944.hp1 NA18955.hp1 NA18955.hp2 NA18968.hp1 NA18980.hp1 NA19000.hp1 NA19030.hp2 NA19043.hp2 NA19084.hp2 NA20905.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0007 a0011 a0014 a0017 a0018 a0025 a0026 a0032 a0033 a0035 a0036 a0042	a0001c0018 a0001c0020 a0001c0037 others(27): Show a0001c0018 a0001c0020 a0001c0037 a0001c0038 a0001c0049 a0001c0096 a0001c0098 a0001c0106 a0002c0003 a0002c0010 a0002c0019 a0002c0050 a0002c0117 a0003c0039 a0003c0046 a0003c0054 a0003c0055 a0003c0056 a0007c0100 a0011c0043 a0014c0048 a0017c0040 a0018c0017 a0025c0041 a0026c0042 a0032c0045 a0033c0088 a0035c0057 a0036c0052 a0042c0097	a0001c0018t0001 a0001c0020t0001 a0001c0037t0004 others(28): Show a0001c0018t0001 a0001c0020t0001 a0001c0037t0004 a0001c0038t0007 a0001c0049t0001 a0001c0096t0025 a0001c0098t0001 a0001c0106t0001 a0002c0003t0003 a0002c0010t0002 a0002c0010t0003 a0002c0019t0002 a0002c0050t0002 a0002c0117t0009 a0003c0039t0009 a0003c0046t0003 a0003c0054t0043 a0003c0055t0044 a0003c0056t0003 a0007c0100t0017 a0011c0043t0015 a0014c0048t0001 a0017c0040t0001 a0018c0017t0014 a0025c0041t0004 a0026c0042t0001 a0032c0045t0005 a0033c0088t0001 a0035c0057t0020 a0036c0052t0006 a0042c0097t0005	a0001c0018t0001g0037 a0001c0018t0001g0056 a0001c0020t0001g0188 others(31): Show a0001c0018t0001g0037 a0001c0018t0001g0056 a0001c0020t0001g0188 a0001c0037t0004g0021 a0001c0038t0007g0205 a0001c0049t0001g0012 a0001c0096t0025g0003 a0001c0098t0001g0112 a0001c0106t0001g0121 a0002c0003t0003g0127 a0002c0010t0002g0054 a0002c0010t0002g0064 a0002c0010t0003g0023 a0002c0019t0002g0185 a0002c0050t0002g0088 a0002c0117t0009g0079 a0003c0039t0009g0075 a0003c0046t0003g0116 a0003c0054t0043g0060 a0003c0055t0044g0071 a0003c0056t0003g0057 a0007c0100t0017g0039 a0011c0043t0015g0043 a0014c0048t0001g0146 a0017c0040t0001g0008 a0018c0017t0014g0212 a0018c0017t0014g0216 a0025c0041t0004g0107 a0026c0042t0001g0089 a0032c0045t0005g0191 a0033c0088t0001g0207 a0035c0057t0020g0002 a0036c0052t0006g0154 a0042c0097t0005g0059	34	218	0.1560	8	c.166 others(27): Show c.1669-1995_1669-1988dupCTCTCTCT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	12/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13320237	C C	CGAGAGAG others(1): Show CGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01123.hp2 NA18964.hp1 others(1): Show HG00423.hp1 HG01123.hp2 NA18964.hp1 NA19084.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0007	a0001c0005 a0003c0015 a0005c0024 others(1): Show a0001c0005 a0003c0015 a0005c0024 a0007c0009	a0001c0005t0008 a0003c0015t0002 a0005c0024t0006 others(1): Show a0001c0005t0008 a0003c0015t0002 a0005c0024t0006 a0007c0009t0034	a0001c0005t0008g0204 a0003c0015t0002g0167 a0005c0024t0006g0117 others(1): Show a0001c0005t0008g0204 a0003c0015t0002g0167 a0005c0024t0006g0117 a0007c0009t0034g0163	4	218	0.0184	8	c.134 others(27): Show c.1346-2924_1346-2917dupTCTCTCTC	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	10/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13336594	G G	GGAGAGAG others(1): Show GGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02683.hp2 HG03516.hp1 others(1): Show HG02630.hp2 HG02683.hp2 HG03516.hp1 NA20752.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0015	a0001c0058 a0002c0124 a0003c0015 others(1): Show a0001c0058 a0002c0124 a0003c0015 a0015c0021	a0001c0058t0004 a0002c0124t0006 a0003c0015t0035 others(1): Show a0001c0058t0004 a0002c0124t0006 a0003c0015t0035 a0015c0021t0010	a0001c0058t0004g0083 a0002c0124t0006g0132 a0003c0015t0035g0119 others(1): Show a0001c0058t0004g0083 a0002c0124t0006g0132 a0003c0015t0035g0119 a0015c0021t0010g0045	4	218	0.0184	8	c.979 others(23): Show c.979-693_979-686dupTCTCTCTC	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13336596	A A	AGAGAGAG others(1): Show AGAGAGAGG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01257.hp1 others(4): Show HG01167.hp2 HG01169.hp1 HG01257.hp1 HG01952.hp2 HG02083.hp2 HG02273.hp1 HG02895.hp1	a0001 a0002 a0034 others(1): Show a0001 a0002 a0034 a0038	a0001c0001 a0002c0003 a0034c0081 others(1): Show a0001c0001 a0002c0003 a0034c0081 a0038c0044	a0001c0001t0001 a0001c0001t0004 a0002c0003t0002 others(2): Show a0001c0001t0001 a0001c0001t0004 a0002c0003t0002 a0034c0081t0019 a0038c0044t0005	a0001c0001t0001g0128 a0001c0001t0001g0193 a0001c0001t0001g0194 others(4): Show a0001c0001t0001g0128 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0004g0013 a0002c0003t0002g0126 a0034c0081t0019g0152 a0038c0044t0005g0175	7	218	0.0321	8	c.979 others(23): Show c.979-688_979-687insCCTCTCTC	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13344736	T T	TTTATTTT others(1): Show TTTATTTTA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01934.hp1 HG02258.hp2 others(9): Show HG01192.hp2 HG01934.hp1 HG02258.hp2 HG02280.hp1 HG02602.hp2 HG02615.hp2 HG02717.hp1 HG03195.hp2 HG03225.hp2 NA18955.hp1 NA19000.hp1 NA20300.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0010 a0014 a0017 a0018 a0024 a0032	a0001c0001 a0001c0016 a0002c0010 others(8): Show a0001c0001 a0001c0016 a0002c0010 a0003c0015 a0003c0056 a0010c0083 a0014c0048 a0017c0040 a0018c0017 a0024c0059 a0032c0045	a0001c0001t0001 a0001c0016t0004 a0002c0010t0002 others(8): Show a0001c0001t0001 a0001c0016t0004 a0002c0010t0002 a0003c0015t0008 a0003c0056t0003 a0010c0083t0014 a0014c0048t0001 a0017c0040t0001 a0018c0017t0014 a0024c0059t0023 a0032c0045t0005	a0001c0001t0001g0025 a0001c0016t0004g0047 a0001c0016t0004g0074 others(9): Show a0001c0001t0001g0025 a0001c0016t0004g0047 a0001c0016t0004g0074 a0002c0010t0002g0054 a0003c0015t0008g0036 a0003c0056t0003g0057 a0010c0083t0014g0159 a0014c0048t0001g0146 a0017c0040t0001g0008 a0018c0017t0014g0212 a0024c0059t0023g0001 a0032c0045t0005g0191	12	218	0.0551	8	c.979 others(25): Show c.979-8828_979-8827insTAAAATAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13360265	G G	GTATATAT others(1): Show GTATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA18906.hp1 HG02559.hp1 NA18906.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0010 a0001c0005t0004 a0001c0005t0010	a0001c0005t0004g0201 a0001c0005t0010g0202 a0001c0005t0004g0201 a0001c0005t0010g0202	2	218	0.0092	8	c.785 others(23): Show c.785-474_785-467dupTATATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	5/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13402803	T T	TATATATA others(1): Show TATATATAC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03225.hp2 NA20300.hp2 HG02723.hp2 HG03225.hp2 NA20300.hp2	a0001 a0001	a0001c0016 a0001c0071 a0001c0016 a0001c0071	a0001c0016t0004 a0001c0071t0013 a0001c0016t0004 a0001c0071t0013	a0001c0016t0004g0047 a0001c0016t0004g0074 a0001c0071t0013g0138 a0001c0016t0004g0047 a0001c0016t0004g0074 a0001c0071t0013g0138	3	218	0.0138	8	c.540 others(27): Show c.540-31025_540-31024insGTATATAT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13406509	A A	ATATGTAT others(1): Show ATATGTATG	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02056.hp2 HG02293.hp2 HG01257.hp1 HG02056.hp2 HG02293.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0009 a0001c0001 a0007c0009	a0001c0001t0001 a0007c0009t0003 a0001c0001t0001 a0007c0009t0003	a0001c0001t0001g0019 a0001c0001t0001g0128 a0007c0009t0003g0069 a0001c0001t0001g0019 a0001c0001t0001g0128 a0007c0009t0003g0069	3	218	0.0138	8	c.540 others(27): Show c.540-34731_540-34730insCATACATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13413895	A A	AAAAGAAA others(1): Show AAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00735.hp2 HG01192.hp1 others(7): Show HG00544.hp2 HG00735.hp2 HG01192.hp1 HG01261.hp1 HG01261.hp2 HG02698.hp1 HG02717.hp2 HG02809.hp2 HG03831.hp2 NA18747.hp2	a0002 a0003 a0006 others(1): Show a0002 a0003 a0006 a0009	a0002c0002 a0002c0003 a0002c0019 others(7): Show a0002c0002 a0002c0003 a0002c0019 a0002c0104 a0002c0114 a0003c0073 a0003c0094 a0006c0121 a0009c0014 a0009c0051	a0002c0002t0002 a0002c0003t0002 a0002c0019t0003 others(7): Show a0002c0002t0002 a0002c0003t0002 a0002c0019t0003 a0002c0104t0040 a0002c0114t0002 a0003c0073t0042 a0003c0094t0018 a0006c0121t0041 a0009c0014t0002 a0009c0051t0002	a0002c0002t0002g0095 a0002c0003t0002g0053 a0002c0019t0003g0009 others(7): Show a0002c0002t0002g0095 a0002c0003t0002g0053 a0002c0019t0003g0009 a0002c0104t0040g0156 a0002c0114t0002g0192 a0003c0073t0042g0026 a0003c0094t0018g0208 a0006c0121t0041g0042 a0009c0014t0002g0048 a0009c0051t0002g0184	10	218	0.0459	8	c.539 others(27): Show c.539+38973_539+38980dupCTTTCTTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13427453	A A	AAAATAAA others(1): Show AAAATAAAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00438.hp2 others(43): Show HG00140.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00609.hp1 HG00738.hp1 HG00738.hp2 HG01070.hp2 HG01099.hp2 HG01192.hp2 HG01256.hp1 HG01516.hp2 HG01884.hp2 HG01975.hp1 HG01978.hp2 HG02165.hp2 HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02976.hp1 HG03516.hp1 HG03688.hp1 HG03942.hp1 HG04115.hp1 HG04204.hp1 NA18522.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18946.hp1 NA18948.hp1 NA18973.hp2 NA18979.hp2 NA18995.hp2 NA19000.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19079.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0014 a0015 a0020 a0021 a0023 a0036	a0001c0001 a0001c0004 a0001c0005 others(32): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0001c0034 a0001c0037 a0001c0058 a0001c0072 a0001c0098 a0001c0099 a0001c0122 a0002c0002 a0002c0003 a0002c0030 a0002c0070 a0002c0082 a0002c0085 a0002c0086 a0003c0056 a0004c0007 a0005c0022 a0005c0033 a0005c0066 a0006c0011 a0006c0029 a0006c0060 a0007c0009 a0008c0008 a0008c0012 a0014c0048 a0015c0021 a0020c0074 a0021c0090 a0023c0113 a0036c0052	a0001c0001t0001 a0001c0004t0015 a0001c0005t0004 others(39): Show a0001c0001t0001 a0001c0004t0015 a0001c0005t0004 a0001c0005t0010 a0001c0006t0005 a0001c0006t0008 a0001c0034t0001 a0001c0037t0004 a0001c0058t0004 a0001c0072t0037 a0001c0098t0001 a0001c0099t0012 a0001c0122t0001 a0002c0002t0002 a0002c0003t0002 a0002c0003t0003 a0002c0030t0002 a0002c0070t0007 a0002c0082t0003 a0002c0085t0005 a0002c0086t0003 a0003c0056t0003 a0004c0007t0004 a0004c0007t0009 a0005c0022t0010 a0005c0033t0011 a0005c0066t0001 a0006c0011t0002 a0006c0029t0002 a0006c0029t0003 a0006c0060t0002 a0007c0009t0034 a0008c0008t0002 a0008c0012t0003 a0008c0012t0006 a0014c0048t0001 a0015c0021t0004 a0015c0021t0010 a0020c0074t0012 a0021c0090t0007 a0023c0113t0013 a0036c0052t0006	a0001c0001t0001g0025 a0001c0001t0001g0050 a0001c0004t0015g0140 others(43): Show a0001c0001t0001g0025 a0001c0001t0001g0050 a0001c0004t0015g0140 a0001c0005t0004g0201 a0001c0005t0010g0202 a0001c0006t0005g0110 a0001c0006t0008g0217 a0001c0034t0001g0068 a0001c0037t0004g0021 a0001c0058t0004g0083 a0001c0072t0037g0213 a0001c0098t0001g0112 a0001c0099t0012g0029 a0001c0122t0001g0174 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0003t0002g0053 a0002c0003t0002g0113 a0002c0003t0003g0166 a0002c0003t0003g0177 a0002c0030t0002g0158 a0002c0070t0007g0102 a0002c0082t0003g0058 a0002c0085t0005g0085 a0002c0086t0003g0035 a0003c0056t0003g0057 a0004c0007t0004g0105 a0004c0007t0009g0147 a0005c0022t0010g0109 a0005c0033t0011g0010 a0005c0066t0001g0034 a0006c0011t0002g0098 a0006c0029t0002g0197 a0006c0029t0003g0169 a0006c0060t0002g0016 a0007c0009t0034g0163 a0008c0008t0002g0033 a0008c0012t0003g0091 a0008c0012t0006g0120 a0014c0048t0001g0146 a0015c0021t0004g0044 a0015c0021t0010g0045 a0020c0074t0012g0161 a0021c0090t0007g0162 a0023c0113t0013g0096 a0036c0052t0006g0154	46	218	0.2110	8	c.539 others(27): Show c.539+25415_539+25422dupATTTATTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13429167	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG03139.hp2 HG02129.hp1 HG03139.hp2	a0003 a0004 a0003 a0004	a0003c0039 a0004c0047 a0003c0039 a0004c0047	a0003c0039t0009 a0004c0047t0001 a0003c0039t0009 a0004c0047t0001	a0003c0039t0009g0075 a0004c0047t0001g0178 a0003c0039t0009g0075 a0004c0047t0001g0178	2	218	0.0092	8	c.539 others(27): Show c.539+23701_539+23708dupGTGTGTGT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13430204	A A	AATATATA others(1): Show AATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02165.hp2 HG02451.hp2 others(8): Show HG02109.hp2 HG02165.hp2 HG02451.hp2 HG02615.hp2 HG02717.hp2 HG02809.hp2 HG02896.hp2 HG02970.hp1 HG03130.hp2 HG03471.hp2 HG03540.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0006 a0010 a0018	a0001c0001 a0001c0006 a0001c0125 others(8): Show a0001c0001 a0001c0006 a0001c0125 a0002c0117 a0003c0073 a0003c0094 a0003c0108 a0006c0029 a0010c0083 a0010c0107 a0018c0017	a0001c0001t0001 a0001c0006t0029 a0001c0125t0013 others(8): Show a0001c0001t0001 a0001c0006t0029 a0001c0125t0013 a0002c0117t0009 a0003c0073t0042 a0003c0094t0018 a0003c0108t0012 a0006c0029t0003 a0010c0083t0014 a0010c0107t0021 a0018c0017t0014	a0001c0001t0001g0030 a0001c0006t0029g0136 a0001c0125t0013g0209 others(8): Show a0001c0001t0001g0030 a0001c0006t0029g0136 a0001c0125t0013g0209 a0002c0117t0009g0079 a0003c0073t0042g0026 a0003c0094t0018g0208 a0003c0108t0012g0211 a0006c0029t0003g0169 a0010c0083t0014g0159 a0010c0107t0021g0004 a0018c0017t0014g0216	11	218	0.0505	8	c.539 others(27): Show c.539+22664_539+22671dupATATATAT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13432416	A A	AAAATAAA others(1): Show AAAATAAAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01167.hp1 HG01192.hp2 others(8): Show HG00735.hp2 HG01167.hp1 HG01192.hp2 HG01257.hp1 HG01257.hp2 HG01981.hp1 HG02809.hp1 HG03453.hp1 HG03471.hp1 HG03540.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0008 a0011	a0001c0001 a0001c0004 a0001c0005 others(7): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0001c0106 a0002c0002 a0002c0104 a0003c0056 a0008c0008 a0011c0103	a0001c0001t0001 a0001c0004t0001 a0001c0004t0011 others(8): Show a0001c0001t0001 a0001c0004t0001 a0001c0004t0011 a0001c0005t0047 a0001c0006t0008 a0001c0106t0001 a0002c0002t0033 a0002c0104t0040 a0003c0056t0003 a0008c0008t0002 a0011c0103t0004	a0001c0001t0001g0128 a0001c0004t0001g0080 a0001c0004t0011g0157 others(8): Show a0001c0001t0001g0128 a0001c0004t0001g0080 a0001c0004t0011g0157 a0001c0005t0047g0024 a0001c0006t0008g0148 a0001c0106t0001g0121 a0002c0002t0033g0082 a0002c0104t0040g0156 a0003c0056t0003g0057 a0008c0008t0002g0099 a0011c0103t0004g0200	11	218	0.0505	8	c.539 others(27): Show c.539+20452_539+20459dupATTTATTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13433460	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02129.hp1 NA19000.hp1 others(2): Show HG02055.hp2 HG02129.hp1 NA19000.hp1 NA20300.hp1 NA20300.hp2	a0001 a0004 a0016 others(2): Show a0001 a0004 a0016 a0032 a0044	a0001c0016 a0004c0047 a0016c0028 others(2): Show a0001c0016 a0004c0047 a0016c0028 a0032c0045 a0044c0112	a0001c0016t0004 a0004c0047t0001 a0016c0028t0007 others(2): Show a0001c0016t0004 a0004c0047t0001 a0016c0028t0007 a0032c0045t0005 a0044c0112t0012	a0001c0016t0004g0047 a0004c0047t0001g0178 a0016c0028t0007g0073 others(2): Show a0001c0016t0004g0047 a0004c0047t0001g0178 a0016c0028t0007g0073 a0032c0045t0005g0191 a0044c0112t0012g0206	5	218	0.0229	8	c.539 others(27): Show c.539+19408_539+19415dupTTTTTTTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13466877	A A	ATTATTTA others(1): Show ATTATTTAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp2 HG00544.hp2 others(49): Show HG00099.hp1 HG00438.hp2 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00735.hp1 HG01109.hp1 HG01167.hp2 HG01169.hp1 HG01192.hp1 HG01261.hp1 HG01261.hp2 HG01952.hp1 HG01993.hp2 HG02040.hp1 HG02040.hp2 HG02109.hp2 HG02129.hp1 HG02165.hp1 HG02273.hp2 HG02451.hp2 HG02559.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02976.hp2 HG03130.hp1 HG03669.hp2 HG03688.hp1 HG03831.hp1 HG03834.hp1 HG04115.hp2 HG04184.hp2 NA18522.hp1 NA18939.hp1 NA18944.hp2 NA18948.hp1 NA18948.hp2 NA18955.hp1 NA18964.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18995.hp1 NA18995.hp2 NA19079.hp1 NA19084.hp2 NA20300.hp2 NA20905.hp2	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0011 a0012 a0013 a0016 a0018 a0019 a0025 a0042	a0001c0001 a0001c0004 a0001c0005 others(38): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0001c0016 a0001c0020 a0001c0026 a0001c0034 a0001c0072 a0001c0122 a0001c0125 a0002c0002 a0002c0003 a0002c0010 a0002c0019 a0002c0082 a0002c0114 a0002c0124 a0003c0015 a0003c0055 a0004c0007 a0004c0047 a0005c0024 a0005c0033 a0005c0102 a0006c0011 a0007c0100 a0007c0118 a0008c0008 a0009c0014 a0009c0051 a0011c0025 a0011c0043 a0012c0023 a0013c0027 a0016c0028 a0018c0017 a0019c0079 a0019c0109 a0025c0041 a0042c0097	a0001c0001t0001 a0001c0004t0001 a0001c0004t0015 others(44): Show a0001c0001t0001 a0001c0004t0001 a0001c0004t0015 a0001c0005t0001 a0001c0005t0005 a0001c0006t0001 a0001c0016t0004 a0001c0020t0001 a0001c0026t0001 a0001c0034t0001 a0001c0072t0037 a0001c0122t0001 a0001c0125t0013 a0002c0002t0002 a0002c0003t0002 a0002c0003t0003 a0002c0010t0002 a0002c0019t0002 a0002c0019t0003 a0002c0082t0003 a0002c0114t0002 a0002c0124t0006 a0003c0015t0002 a0003c0055t0044 a0004c0007t0001 a0004c0007t0009 a0004c0007t0010 a0004c0047t0001 a0005c0024t0008 a0005c0033t0011 a0005c0102t0003 a0006c0011t0003 a0007c0100t0017 a0007c0118t0002 a0008c0008t0002 a0009c0014t0002 a0009c0051t0002 a0011c0025t0011 a0011c0043t0015 a0012c0023t0003 a0013c0027t0001 a0016c0028t0007 a0018c0017t0014 a0019c0079t0007 a0019c0109t0005 a0025c0041t0004 a0042c0097t0005	a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0004t0001g0199 others(49): Show a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0004t0001g0199 a0001c0004t0015g0140 a0001c0005t0001g0187 a0001c0005t0005g0135 a0001c0006t0001g0032 a0001c0016t0004g0047 a0001c0020t0001g0051 a0001c0020t0001g0188 a0001c0026t0001g0144 a0001c0034t0001g0068 a0001c0072t0037g0213 a0001c0122t0001g0174 a0001c0125t0013g0209 a0002c0002t0002g0020 a0002c0002t0002g0130 a0002c0003t0002g0053 a0002c0003t0003g0061 a0002c0003t0003g0166 a0002c0010t0002g0054 a0002c0019t0002g0185 a0002c0019t0003g0009 a0002c0082t0003g0058 a0002c0114t0002g0192 a0002c0124t0006g0132 a0003c0015t0002g0167 a0003c0055t0044g0071 a0004c0007t0001g0049 a0004c0007t0009g0147 a0004c0007t0010g0062 a0004c0047t0001g0178 a0005c0024t0008g0214 a0005c0033t0011g0170 a0005c0102t0003g0122 a0006c0011t0003g0070 a0007c0100t0017g0039 a0007c0118t0002g0052 a0008c0008t0002g0065 a0009c0014t0002g0048 a0009c0051t0002g0184 a0011c0025t0011g0038 a0011c0043t0015g0043 a0012c0023t0003g0164 a0012c0023t0003g0180 a0013c0027t0001g0179 a0016c0028t0007g0084 a0018c0017t0014g0216 a0019c0079t0007g0067 a0019c0109t0005g0198 a0025c0041t0004g0107 a0042c0097t0005g0059	52	218	0.2385	8	c.294 others(27): Show c.294-11673_294-11666dupATAAATAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13489003	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG03195.hp1 HG03195.hp2 others(2): Show HG01934.hp1 HG03195.hp1 HG03195.hp2 HG03540.hp1 NA19043.hp2	a0001 a0003 a0018 others(1): Show a0001 a0003 a0018 a0033	a0001c0096 a0003c0015 a0003c0108 others(2): Show a0001c0096 a0003c0015 a0003c0108 a0018c0017 a0033c0088	a0001c0096t0025 a0003c0015t0008 a0003c0108t0012 others(2): Show a0001c0096t0025 a0003c0015t0008 a0003c0108t0012 a0018c0017t0014 a0033c0088t0001	a0001c0096t0025g0003 a0003c0015t0008g0036 a0003c0108t0012g0211 others(2): Show a0001c0096t0025g0003 a0003c0015t0008g0036 a0003c0108t0012g0211 a0018c0017t0014g0212 a0033c0088t0001g0207	5	218	0.0229	8	c.293 others(27): Show c.293+16921_293+16928dupAAAAAAAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46			chr19	TogoVar
CACNA1B_chr9_137872782_138129619	137939803	A A	AAAATAAA others(1): Show AAAATAAAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 NA18964.hp1 NA18971.hp2 HG02698.hp1 NA18964.hp1 NA18971.hp2	a0002 a0002	a0002c0008 a0002c0056 a0002c0008 a0002c0056	a0002c0008t0015 a0002c0056t0002 a0002c0008t0015 a0002c0056t0002	a0002c0008t0015g0169 a0002c0008t0015g0171 a0002c0056t0002g0245 a0002c0008t0015g0169 a0002c0008t0015g0171 a0002c0056t0002g0245	3	248	0.0121	8	c.967 others(27): Show c.967-12431_967-12424dupTAAATAAA	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	6/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	137954856	T T	TTGTGTGT others(1): Show TTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19060.hp2 NA19079.hp2 NA19056.hp2 NA19060.hp2 NA19079.hp2	a0008 a0008	a0008c0019 a0008c0019	a0008c0019t0017 a0008c0019t0025 a0008c0019t0017 a0008c0019t0025	a0008c0019t0017g0124 a0008c0019t0017g0125 a0008c0019t0025g0126 a0008c0019t0017g0124 a0008c0019t0017g0125 a0008c0019t0025g0126	3	248	0.0121	8	c.107 others(25): Show c.1071-825_1071-818dupTGTGTGTG	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	7/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	138107218	T T	TTTTATTT others(1): Show TTTTATTTA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01069.hp1 HG01071.hp1 others(6): Show HG00642.hp1 HG01069.hp1 HG01071.hp1 HG01109.hp2 NA18612.hp1 NA18960.hp2 NA18963.hp1 NA19002.hp1 NA19030.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0014	a0001c0003 a0001c0007 a0001c0015 others(4): Show a0001c0003 a0001c0007 a0001c0015 a0002c0001 a0003c0006 a0004c0029 a0014c0031	a0001c0003t0005 a0001c0007t0003 a0001c0015t0002 others(5): Show a0001c0003t0005 a0001c0007t0003 a0001c0015t0002 a0002c0001t0001 a0002c0001t0002 a0003c0006t0002 a0004c0029t0036 a0014c0031t0002	a0001c0003t0005g0021 a0001c0007t0003g0041 a0001c0015t0002g0102 others(6): Show a0001c0003t0005g0021 a0001c0007t0003g0041 a0001c0015t0002g0102 a0002c0001t0001g0166 a0002c0001t0001g0209 a0002c0001t0002g0181 a0003c0006t0002g0152 a0004c0029t0036g0206 a0014c0031t0002g0113	9	248	0.0363	8	c.542 others(27): Show c.5428+1453_5428+1460dupTTATTTAT	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	39/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1C_chr12_2047987_2702950	2052893	C C	CCGGGCGG others(1): Show CCGGGCGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02280.hp2 HG02970.hp1 others(1): Show HG01891.hp1 HG02280.hp2 HG02970.hp1 HG03139.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0001c0038 others(1): Show a0001c0001 a0001c0006 a0001c0038 a0003c0023	a0001c0001t0017 a0001c0006t0001 a0001c0038t0041 others(1): Show a0001c0001t0017 a0001c0006t0001 a0001c0038t0041 a0003c0023t0011	a0001c0001t0017g0101 a0001c0006t0001g0102 a0001c0038t0041g0047 others(1): Show a0001c0001t0017g0101 a0001c0006t0001g0102 a0001c0038t0041g0047 a0003c0023t0011g0048	4	104	0.0385	8	c.-67 others(17): Show c.-670_-669insCGGGCGGG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding		93		chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2067449	C C	CGTGTGTG others(1): Show CGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01993.hp1 HG02523.hp2 others(6): Show HG01891.hp1 HG01993.hp1 HG02523.hp2 HG02809.hp1 HG02896.hp1 HG03471.hp1 NA18989.hp1 NA19003.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(3): Show a0001c0001 a0001c0003 a0001c0005 a0001c0010 a0001c0018 a0001c0038	a0001c0001t0002 a0001c0001t0022 a0001c0003t0005 others(6): Show a0001c0001t0002 a0001c0001t0022 a0001c0003t0005 a0001c0003t0008 a0001c0003t0040 a0001c0005t0002 a0001c0010t0003 a0001c0018t0042 a0001c0038t0041	a0001c0001t0002g0027 a0001c0001t0022g0058 a0001c0003t0005g0031 others(6): Show a0001c0001t0002g0027 a0001c0001t0022g0058 a0001c0003t0005g0031 a0001c0003t0008g0059 a0001c0003t0040g0011 a0001c0005t0002g0098 a0001c0010t0003g0054 a0001c0018t0042g0083 a0001c0038t0041g0047	9	104	0.0865	8	c.49+ others(25): Show c.49+13864_49+13871dupTGTGTGTG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2067481	T T	TGTGTGTG others(1): Show TGTGTGTGC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02040.hp2 HG02257.hp1 others(6): Show HG01496.hp2 HG02040.hp2 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02523.hp1 HG02922.hp1 HG03239.hp2 HG03490.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0011 a0001c0014 a0003c0027	a0001c0001t0002 a0001c0002t0001 a0001c0002t0029 others(5): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0029 a0001c0003t0008 a0001c0005t0010 a0001c0011t0030 a0001c0014t0039 a0003c0027t0011	a0001c0001t0002g0096 a0001c0002t0001g0026 a0001c0002t0001g0043 others(6): Show a0001c0001t0002g0096 a0001c0002t0001g0026 a0001c0002t0001g0043 a0001c0002t0029g0037 a0001c0003t0008g0057 a0001c0005t0010g0089 a0001c0011t0030g0039 a0001c0014t0039g0095 a0003c0027t0011g0013	9	104	0.0865	8	c.49+ others(25): Show c.49+13871_49+13872insTGTGTGCG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2071140	T T	TCCTCCCT others(1): Show TCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02886.hp2 HG03486.hp1 HG01496.hp2 HG02886.hp2 HG03486.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0022 a0003c0027 a0001c0001 a0001c0022 a0003c0027	a0001c0001t0004 a0001c0022t0014 a0003c0027t0011 a0001c0001t0004 a0001c0022t0014 a0003c0027t0011	a0001c0001t0004g0005 a0001c0022t0014g0050 a0003c0027t0011g0013 a0001c0001t0004g0005 a0001c0022t0014g0050 a0003c0027t0011g0013	3	104	0.0289	8	c.49+ others(25): Show c.49+17557_49+17564dupCCCTCCCT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2071160	C C	CCCTTCCT others(1): Show CCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02273.hp1 HG04115.hp2 HG01993.hp1 HG02273.hp1 HG04115.hp2	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0008 a0001c0006t0003 a0001c0003t0008 a0001c0006t0003	a0001c0003t0008g0057 a0001c0003t0008g0059 a0001c0006t0003g0069 a0001c0003t0008g0057 a0001c0003t0008g0059 a0001c0006t0003g0069	3	104	0.0289	8	c.49+ others(25): Show c.49+17552_49+17553insTCCTTCCT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2071168	C C	CCCTTCCT others(1): Show CCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01358.hp1 HG02145.hp1 others(6): Show HG01106.hp2 HG01358.hp1 HG02145.hp1 HG02258.hp2 HG02809.hp2 HG03041.hp2 HG03098.hp2 HG03209.hp2 HG03516.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0004 a0001c0007 others(5): Show a0001c0001 a0001c0004 a0001c0007 a0001c0026 a0001c0037 a0002c0013 a0003c0035 a0006c0028	a0001c0001t0024 a0001c0004t0004 a0001c0007t0005 others(6): Show a0001c0001t0024 a0001c0004t0004 a0001c0007t0005 a0001c0007t0006 a0001c0026t0003 a0001c0037t0006 a0002c0013t0016 a0003c0035t0025 a0006c0028t0006	a0001c0001t0024g0080 a0001c0004t0004g0084 a0001c0007t0005g0002 others(6): Show a0001c0001t0024g0080 a0001c0004t0004g0084 a0001c0007t0005g0002 a0001c0007t0006g0074 a0001c0026t0003g0066 a0001c0037t0006g0025 a0002c0013t0016g0022 a0003c0035t0025g0078 a0006c0028t0006g0072	9	104	0.0865	8	c.49+ others(25): Show c.49+17560_49+17561insTCCTTCCT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2071172	C C	CCCTGCCT others(1): Show CCCTGCCTG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp2 HG02257.hp2 others(10): Show HG01496.hp1 HG01496.hp2 HG02257.hp2 HG02647.hp1 HG02886.hp2 HG02922.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03486.hp1 HG03540.hp2 HG04115.hp1 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0011 a0001c0022 a0002c0013 a0003c0027 a0004c0034 a0004c0039	a0001c0001t0004 a0001c0001t0017 a0001c0001t0028 others(10): Show a0001c0001t0004 a0001c0001t0017 a0001c0001t0028 a0001c0001t0045 a0001c0002t0001 a0001c0003t0010 a0001c0006t0001 a0001c0011t0030 a0001c0022t0014 a0002c0013t0035 a0003c0027t0011 a0004c0034t0009 a0004c0039t0009	a0001c0001t0004g0005 a0001c0001t0017g0004 a0001c0001t0028g0081 others(10): Show a0001c0001t0004g0005 a0001c0001t0017g0004 a0001c0001t0028g0081 a0001c0001t0045g0052 a0001c0002t0001g0093 a0001c0003t0010g0019 a0001c0006t0001g0102 a0001c0011t0030g0039 a0001c0022t0014g0050 a0002c0013t0035g0035 a0003c0027t0011g0013 a0004c0034t0009g0041 a0004c0039t0009g0040	13	104	0.1250	8	c.49+ others(25): Show c.49+17593_49+17600dupGCCTGCCT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2120656	C C	CTGTGTGT others(1): Show CTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02965.hp1 HG03209.hp2 others(1): Show HG02451.hp1 HG02965.hp1 HG03209.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0024 a0001c0002t0001 a0001c0003t0044 others(1): Show a0001c0001t0024 a0001c0002t0001 a0001c0003t0044 a0001c0005t0026	a0001c0001t0024g0080 a0001c0002t0001g0026 a0001c0003t0044g0053 others(1): Show a0001c0001t0024g0080 a0001c0002t0001g0026 a0001c0003t0044g0053 a0001c0005t0026g0079	4	104	0.0385	8	c.477 others(23): Show c.477+260_477+267dupGTGTGTGT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2177587	C C	CCCTTCCT others(1): Show CCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02922.hp1 HG03540.hp2 others(1): Show HG02886.hp1 HG02922.hp1 HG03540.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0011 a0001c0032 others(1): Show a0001c0001 a0001c0011 a0001c0032 a0002c0013	a0001c0001t0005 a0001c0011t0030 a0001c0032t0031 others(1): Show a0001c0001t0005 a0001c0011t0030 a0001c0032t0031 a0002c0013t0035	a0001c0001t0005g0015 a0001c0011t0030g0039 a0001c0032t0031g0103 others(1): Show a0001c0001t0005g0015 a0001c0011t0030g0039 a0001c0032t0031g0103 a0002c0013t0035g0035	4	104	0.0385	8	c.477 others(27): Show c.477+57191_477+57198dupCTTCCTTC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2177634	C C	CTCTTTCT others(1): Show CTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01071.hp2 HG01358.hp2 others(10): Show HG00140.hp2 HG01071.hp2 HG01358.hp2 HG01496.hp1 HG02055.hp2 HG02257.hp1 HG02273.hp2 HG02809.hp1 HG03486.hp1 HG03490.hp1 HG03492.hp2 NA18989.hp2 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0018 a0001c0019 a0001c0021	a0001c0001t0004 a0001c0001t0022 a0001c0002t0001 others(7): Show a0001c0001t0004 a0001c0001t0022 a0001c0002t0001 a0001c0002t0003 a0001c0002t0029 a0001c0003t0010 a0001c0008t0038 a0001c0018t0042 a0001c0019t0003 a0001c0021t0027	a0001c0001t0004g0005 a0001c0001t0022g0058 a0001c0002t0001g0017 others(10): Show a0001c0001t0004g0005 a0001c0001t0022g0058 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0043 a0001c0002t0001g0092 a0001c0002t0003g0065 a0001c0002t0029g0037 a0001c0003t0010g0019 a0001c0008t0038g0044 a0001c0018t0042g0083 a0001c0019t0003g0071 a0001c0021t0027g0087	13	104	0.1250	8	c.477 others(27): Show c.477+57218_477+57225dupCTTTCTTT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2378779	G G	GTCCTTCC others(1): Show GTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02040.hp2 HG02809.hp2 others(5): Show HG00140.hp2 HG02040.hp2 HG02809.hp2 HG02965.hp1 HG02970.hp1 HG03195.hp2 HG03225.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0019 others(2): Show a0001c0001 a0001c0003 a0001c0019 a0001c0024 a0001c0037	a0001c0001t0002 a0001c0001t0004 a0001c0001t0017 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0017 a0001c0001t0028 a0001c0003t0044 a0001c0019t0003 a0001c0024t0003 a0001c0037t0006	a0001c0001t0002g0096 a0001c0001t0004g0008 a0001c0001t0017g0101 others(5): Show a0001c0001t0002g0096 a0001c0001t0004g0008 a0001c0001t0017g0101 a0001c0001t0028g0081 a0001c0003t0044g0053 a0001c0019t0003g0071 a0001c0024t0003g0067 a0001c0037t0006g0025	8	104	0.0769	8	c.478 others(27): Show c.478-70164_478-70157dupTCCTTCCT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2378817	C C	CCTTCCTC others(1): Show CCTTCCTCT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02273.hp2 HG02809.hp1 others(10): Show HG01496.hp1 HG02273.hp2 HG02809.hp1 HG02922.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03516.hp1 HG03540.hp2 HG06807.hp2 NA18906.hp2 NA19003.hp1 NA19043.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0015 a0001c0018 a0001c0025 a0001c0026 a0001c0033 a0002c0013 a0004c0034 a0004c0039	a0001c0001t0002 a0001c0001t0004 a0001c0001t0022 others(10): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0022 a0001c0002t0001 a0001c0003t0010 a0001c0015t0034 a0001c0018t0042 a0001c0025t0007 a0001c0026t0003 a0001c0033t0020 a0002c0013t0035 a0004c0034t0009 a0004c0039t0009	a0001c0001t0002g0027 a0001c0001t0004g0104 a0001c0001t0022g0058 others(10): Show a0001c0001t0002g0027 a0001c0001t0004g0104 a0001c0001t0022g0058 a0001c0002t0001g0043 a0001c0003t0010g0019 a0001c0015t0034g0075 a0001c0018t0042g0083 a0001c0025t0007g0012 a0001c0026t0003g0066 a0001c0033t0020g0070 a0002c0013t0035g0035 a0004c0034t0009g0041 a0004c0039t0009g0040	13	104	0.1250	8	c.478 others(27): Show c.478-70157_478-70156insTCCTCTCT	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(1): Show GGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02970.hp2 HG03195.hp1 others(1): Show HG02683.hp2 HG02970.hp2 HG03195.hp1 HG03540.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0003 a0002c0013 a0004c0034 others(1): Show a0001c0003 a0002c0013 a0004c0034 a0005c0030	a0001c0003t0001 a0002c0013t0035 a0004c0034t0009 others(1): Show a0001c0003t0001 a0002c0013t0035 a0004c0034t0009 a0005c0030t0001	a0001c0003t0001g0009 a0002c0013t0035g0035 a0004c0034t0009g0041 others(1): Show a0001c0003t0001g0009 a0002c0013t0035g0035 a0004c0034t0009g0041 a0005c0030t0001g0077	4	104	0.0385	8	c.478 others(27): Show c.478-28835_478-28828dupGTGTGTGT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2446199	G G	GTGGATGG others(1): Show GTGGATGGA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02055.hp1 HG02145.hp1 others(19): Show HG01496.hp2 HG02055.hp1 HG02145.hp1 HG02257.hp2 HG02451.hp2 HG02647.hp1 HG02809.hp1 HG02922.hp2 HG02965.hp2 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03486.hp2 HG03540.hp1 HG03579.hp1 NA18906.hp2 NA19043.hp2 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0004 a0001c0006 others(12): Show a0001c0001 a0001c0004 a0001c0006 a0001c0012 a0001c0015 a0001c0018 a0001c0025 a0001c0032 a0001c0033 a0001c0036 a0002c0013 a0003c0016 a0003c0027 a0004c0034 a0006c0028	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(19): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0013 a0001c0001t0017 a0001c0001t0043 a0001c0001t0045 a0001c0004t0010 a0001c0004t0036 a0001c0006t0001 a0001c0012t0007 a0001c0015t0034 a0001c0018t0042 a0001c0025t0007 a0001c0032t0031 a0001c0033t0020 a0001c0036t0007 a0002c0013t0016 a0003c0016t0011 a0003c0027t0011 a0004c0034t0009 a0006c0028t0006	a0001c0001t0003g0063 a0001c0001t0004g0008 a0001c0001t0005g0097 others(19): Show a0001c0001t0003g0063 a0001c0001t0004g0008 a0001c0001t0005g0097 a0001c0001t0013g0024 a0001c0001t0017g0004 a0001c0001t0043g0032 a0001c0001t0045g0052 a0001c0004t0010g0020 a0001c0004t0036g0099 a0001c0006t0001g0102 a0001c0012t0007g0046 a0001c0015t0034g0075 a0001c0018t0042g0083 a0001c0025t0007g0012 a0001c0032t0031g0103 a0001c0033t0020g0070 a0001c0036t0007g0100 a0002c0013t0016g0022 a0003c0016t0011g0082 a0003c0027t0011g0013 a0004c0034t0009g0041 a0006c0028t0006g0072	22	104	0.2115	8	c.478 others(25): Show c.478-2749_478-2742dupATGGATGG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2446199	G G	GTGGGTGG others(1): Show GTGGGTGGA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01358.hp1 HG01358.hp2 others(5): Show HG01106.hp2 HG01358.hp1 HG01358.hp2 HG01891.hp1 HG02647.hp2 HG02896.hp2 HG02897.hp1 NA18989.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0001c0008 a0001c0010 others(2): Show a0001c0007 a0001c0008 a0001c0010 a0001c0038 a0002c0009	a0001c0007t0005 a0001c0007t0006 a0001c0008t0033 others(4): Show a0001c0007t0005 a0001c0007t0006 a0001c0008t0033 a0001c0008t0038 a0001c0010t0003 a0001c0038t0041 a0002c0009t0012	a0001c0007t0005g0002 a0001c0007t0006g0074 a0001c0008t0033g0051 others(5): Show a0001c0007t0005g0002 a0001c0007t0006g0074 a0001c0008t0033g0051 a0001c0008t0038g0044 a0001c0010t0003g0054 a0001c0038t0041g0047 a0002c0009t0012g0061 a0002c0009t0012g0062	8	104	0.0769	8	c.478 others(25): Show c.478-2774_478-2773insGTGGATGG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2497969	T T	TCTCACAC others(1): Show TCTCACACA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02572.hp2 HG06807.hp2 HG02145.hp1 HG02572.hp2 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0013 a0001c0001 a0002c0013	a0001c0001t0004 a0001c0001t0013 a0002c0013t0016 a0001c0001t0004 a0001c0001t0013 a0002c0013t0016	a0001c0001t0004g0104 a0001c0001t0013g0014 a0002c0013t0016g0022 a0001c0001t0004g0104 a0001c0001t0013g0014 a0002c0013t0016g0022	3	104	0.0289	8	c.111 others(27): Show c.1113+4584_1113+4585insTCACACAC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	7/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2511571	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02258.hp1 HG03098.hp2 others(2): Show HG02055.hp1 HG02258.hp1 HG03098.hp2 HG03225.hp1 HG03471.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0004 a0001c0017 others(2): Show a0001c0001 a0001c0004 a0001c0017 a0003c0016 a0006c0028	a0001c0001t0015 a0001c0004t0036 a0001c0017t0006 others(2): Show a0001c0001t0015 a0001c0004t0036 a0001c0017t0006 a0003c0016t0011 a0006c0028t0006	a0001c0001t0015g0030 a0001c0004t0036g0099 a0001c0017t0006g0006 others(2): Show a0001c0001t0015g0030 a0001c0004t0036g0099 a0001c0017t0006g0006 a0003c0016t0011g0082 a0006c0028t0006g0072	5	104	0.0481	8	c.121 others(27): Show c.1218-1227_1218-1220dupCACACACA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	8/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2638883	T T	TCAGGTGG others(1): Show TCAGGTGGA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02145.hp2 HG02258.hp1 others(10): Show HG02055.hp2 HG02145.hp2 HG02258.hp1 HG02451.hp1 HG02572.hp1 HG02809.hp2 HG02922.hp2 HG02970.hp2 HG03195.hp2 HG03209.hp1 HG03486.hp1 HG03540.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(5): Show a0001c0001 a0001c0003 a0001c0005 a0001c0017 a0001c0021 a0001c0024 a0001c0033 a0001c0037	a0001c0001t0004 a0001c0001t0005 a0001c0003t0001 others(7): Show a0001c0001t0004 a0001c0001t0005 a0001c0003t0001 a0001c0003t0018 a0001c0005t0026 a0001c0017t0006 a0001c0021t0027 a0001c0024t0003 a0001c0033t0020 a0001c0037t0006	a0001c0001t0004g0005 a0001c0001t0004g0038 a0001c0001t0004g0104 others(10): Show a0001c0001t0004g0005 a0001c0001t0004g0038 a0001c0001t0004g0104 a0001c0001t0005g0042 a0001c0001t0005g0097 a0001c0003t0001g0009 a0001c0003t0018g0068 a0001c0005t0026g0079 a0001c0017t0006g0006 a0001c0021t0027g0087 a0001c0024t0003g0067 a0001c0033t0020g0070 a0001c0037t0006g0025	13	104	0.1250	8	c.391 others(27): Show c.3912+5174_3912+5181dupGGTGGACA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	30/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2677684	C C	CTTGGAGG others(1): Show CTTGGAGGA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02280.hp2 HG03041.hp2 others(1): Show HG01496.hp2 HG02280.hp2 HG03041.hp2 HG03225.hp1	a0003 a0003	a0003c0016 a0003c0023 a0003c0027 others(1): Show a0003c0016 a0003c0023 a0003c0027 a0003c0035	a0003c0016t0011 a0003c0023t0011 a0003c0027t0011 others(1): Show a0003c0016t0011 a0003c0023t0011 a0003c0027t0011 a0003c0035t0025	a0003c0016t0011g0082 a0003c0023t0011g0048 a0003c0027t0011g0013 others(1): Show a0003c0016t0011g0082 a0003c0023t0011g0048 a0003c0027t0011g0013 a0003c0035t0025g0078	4	104	0.0385	8	c.495 others(23): Show c.4957-48_4957-41dupTTGGAGGA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	40/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1D_chr3_53489611_53818733	53520849	C C	CCTTTCTT others(1): Show CCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG01070.hp1 others(10): Show HG00280.hp1 HG00639.hp1 HG01070.hp1 HG01496.hp1 HG01516.hp2 HG01884.hp2 HG01928.hp1 HG02559.hp1 HG02647.hp2 HG03453.hp2 HG04204.hp1 NA18986.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0010 a0001c0013	a0001c0001t0001 a0001c0002t0009 a0001c0002t0013 others(9): Show a0001c0001t0001 a0001c0002t0009 a0001c0002t0013 a0001c0002t0064 a0001c0003t0001 a0001c0003t0003 a0001c0003t0023 a0001c0003t0037 a0001c0003t0052 a0001c0004t0003 a0001c0010t0002 a0001c0013t0042	a0001c0001t0001g0173 a0001c0002t0009g0107 a0001c0002t0013g0021 others(10): Show a0001c0001t0001g0173 a0001c0002t0009g0107 a0001c0002t0013g0021 a0001c0002t0064g0042 a0001c0003t0001g0140 a0001c0003t0001g0204 a0001c0003t0003g0057 a0001c0003t0023g0118 a0001c0003t0037g0038 a0001c0003t0052g0120 a0001c0004t0003g0079 a0001c0010t0002g0092 a0001c0013t0042g0102	13	210	0.0619	8	c.483 others(27): Show c.483+19170_483+19177dupCTTTCTTT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	3/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53542580	T T	TTAAATAA others(1): Show TTAAATAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp1 HG01361.hp2 others(19): Show HG00642.hp2 HG00735.hp1 HG01361.hp2 HG01884.hp2 HG02258.hp2 HG02559.hp2 HG02615.hp2 HG02723.hp2 HG02896.hp2 HG02897.hp2 HG02976.hp1 HG03139.hp1 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0009 a0001c0012 a0001c0014 a0002c0016	a0001c0001t0001 a0001c0001t0032 a0001c0001t0068 others(14): Show a0001c0001t0001 a0001c0001t0032 a0001c0001t0068 a0001c0002t0006 a0001c0002t0010 a0001c0002t0018 a0001c0002t0028 a0001c0002t0036 a0001c0002t0063 a0001c0003t0037 a0001c0004t0039 a0001c0006t0001 a0001c0007t0031 a0001c0009t0017 a0001c0012t0027 a0001c0014t0002 a0002c0016t0059	a0001c0001t0001g0136 a0001c0001t0032g0206 a0001c0001t0068g0001 others(19): Show a0001c0001t0001g0136 a0001c0001t0032g0206 a0001c0001t0068g0001 a0001c0002t0006g0189 a0001c0002t0006g0192 a0001c0002t0010g0138 a0001c0002t0010g0139 a0001c0002t0010g0190 a0001c0002t0010g0195 a0001c0002t0018g0029 a0001c0002t0028g0188 a0001c0002t0036g0202 a0001c0002t0063g0191 a0001c0003t0037g0038 a0001c0004t0039g0028 a0001c0006t0001g0135 a0001c0007t0031g0187 a0001c0007t0031g0194 a0001c0009t0017g0085 a0001c0012t0027g0193 a0001c0014t0002g0114 a0002c0016t0059g0208	22	210	0.1048	8	c.483 others(27): Show c.483+40877_483+40884dupTAAATAAA	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	3/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53651366	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp2 HG01070.hp2 others(15): Show HG00323.hp1 HG00642.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01169.hp1 HG01175.hp1 HG01256.hp2 HG02258.hp1 HG02273.hp2 HG02647.hp1 HG02698.hp1 HG03669.hp2 HG04199.hp1 HG04199.hp2 NA18963.hp1 NA18994.hp1 NA20805.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0010 a0001c0011 a0001c0018 a0004c0020	a0001c0001t0003 a0001c0001t0004 a0001c0001t0022 others(12): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0022 a0001c0001t0075 a0001c0002t0006 a0001c0002t0025 a0001c0004t0001 a0001c0004t0004 a0001c0004t0008 a0001c0004t0011 a0001c0004t0039 a0001c0010t0038 a0001c0011t0026 a0001c0018t0001 a0004c0020t0004	a0001c0001t0003g0081 a0001c0001t0003g0084 a0001c0001t0004g0137 others(15): Show a0001c0001t0003g0081 a0001c0001t0003g0084 a0001c0001t0004g0137 a0001c0001t0022g0060 a0001c0001t0075g0009 a0001c0002t0006g0180 a0001c0002t0025g0067 a0001c0004t0001g0150 a0001c0004t0001g0152 a0001c0004t0004g0147 a0001c0004t0008g0048 a0001c0004t0011g0145 a0001c0004t0039g0028 a0001c0010t0038g0019 a0001c0010t0038g0037 a0001c0011t0026g0030 a0001c0018t0001g0177 a0004c0020t0004g0182	18	210	0.0857	8	c.623 others(23): Show c.623+463_623+470dupTTTTTTTT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	4/48		INFO_REALIGN_3_PRIME	chr3	TogoVar

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