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
CACNA1C_chr12_2047987_2702950	2380030	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp2 HG03540.hp2 others(2): Show HG03139.hp1 HG03139.hp2 HG03540.hp2 NA18906.hp2 NA19043.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0006 a0001c0025 others(2): Show a0001c0001 a0001c0006 a0001c0025 a0002c0013 a0004c0039	a0001c0001t0002 a0001c0006t0001 a0001c0025t0007 others(2): Show a0001c0001t0002 a0001c0006t0001 a0001c0025t0007 a0002c0013t0035 a0004c0039t0009	a0001c0001t0002g0027 a0001c0006t0001g0102 a0001c0025t0007g0012 others(2): Show a0001c0001t0002g0027 a0001c0006t0001g0102 a0001c0025t0007g0012 a0002c0013t0035g0035 a0004c0039t0009g0040	5	104	0.0481	14	c.478 others(33): Show c.478-68945_478-68932dupAAAAAAAAAAAAAA	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(7): Show GGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0101 a0001c0001t0017g0101	1	104	0.0096	14	c.478 others(33): Show c.478-28841_478-28828dupGTGTGTGTGTGTGT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2497969	T T	TCACACAC others(7): Show TCACACACACACACA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02970.hp2 HG03139.hp2 others(2): Show HG02055.hp2 HG02970.hp2 HG03139.hp2 HG03516.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 others(1): Show a0001c0001 a0001c0003 a0001c0006 a0001c0021	a0001c0001t0028 a0001c0003t0001 a0001c0003t0037 others(2): Show a0001c0001t0028 a0001c0003t0001 a0001c0003t0037 a0001c0006t0001 a0001c0021t0027	a0001c0001t0028g0081 a0001c0003t0001g0009 a0001c0003t0037g0003 others(2): Show a0001c0001t0028g0081 a0001c0003t0001g0009 a0001c0003t0037g0003 a0001c0006t0001g0102 a0001c0021t0027g0087	5	104	0.0481	14	c.111 others(33): Show c.1113+4604_1113+4617dupCACACACACACACA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	7/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2501209	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02647.hp1 NA20300.hp1 HG01358.hp1 HG02647.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0017 a0001c0001t0028 a0001c0007t0005 a0001c0001t0017 a0001c0001t0028 a0001c0007t0005	a0001c0001t0017g0004 a0001c0001t0028g0081 a0001c0007t0005g0002 a0001c0001t0017g0004 a0001c0001t0028g0081 a0001c0007t0005g0002	3	104	0.0289	14	c.111 others(33): Show c.1114-3215_1114-3202dupAAAAAAAAAAAAAA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	7/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2691850	C C	CGCCGCCG others(7): Show CGCCGCCGGGAAGGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG01071.hp1 others(99): Show HG00140.hp1 HG00140.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01891.hp1 HG01891.hp2 HG01993.hp1 HG01993.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG04115.hp1 HG04115.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18966.hp1 NA18966.hp2 NA18989.hp1 NA18989.hp2 NA19003.hp1 NA19003.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0002 a0001c0003 others(37): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0010 a0001c0011 a0001c0012 a0001c0014 a0001c0015 a0001c0017 a0001c0018 a0001c0019 a0001c0020 a0001c0021 a0001c0022 a0001c0024 a0001c0025 a0001c0026 a0001c0029 a0001c0031 a0001c0032 a0001c0033 a0001c0036 a0001c0037 a0001c0038 a0002c0009 a0002c0013 a0002c0040 a0003c0016 a0003c0023 a0003c0027 a0003c0035 a0004c0034 a0004c0039 a0005c0030 a0006c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(72): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0015 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0028 a0001c0001t0043 a0001c0001t0045 a0001c0002t0001 a0001c0002t0003 a0001c0002t0029 a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 a0001c0003t0008 a0001c0003t0009 a0001c0003t0010 a0001c0003t0018 a0001c0003t0037 a0001c0003t0040 a0001c0003t0044 a0001c0004t0004 a0001c0004t0010 a0001c0004t0023 a0001c0004t0036 a0001c0005t0002 a0001c0005t0010 a0001c0005t0026 a0001c0006t0001 a0001c0006t0003 a0001c0007t0005 a0001c0007t0006 a0001c0008t0033 a0001c0008t0038 a0001c0010t0003 a0001c0010t0008 a0001c0011t0014 a0001c0011t0030 a0001c0012t0007 a0001c0014t0032 a0001c0014t0039 a0001c0015t0034 a0001c0017t0006 a0001c0018t0042 a0001c0019t0003 a0001c0020t0002 a0001c0021t0027 a0001c0022t0014 a0001c0024t0003 a0001c0025t0007 a0001c0026t0003 a0001c0029t0019 a0001c0031t0002 a0001c0032t0031 a0001c0033t0020 a0001c0036t0007 a0001c0037t0006 a0001c0038t0041 a0002c0009t0012 a0002c0013t0016 a0002c0013t0035 a0002c0040t0016 a0003c0016t0011 a0003c0023t0011 a0003c0027t0011 a0003c0035t0025 a0004c0034t0009 a0004c0039t0009 a0005c0030t0001 a0006c0028t0006	a0001c0001t0001g0029 a0001c0001t0001g0088 a0001c0001t0002g0001 others(99): Show a0001c0001t0001g0029 a0001c0001t0001g0088 a0001c0001t0002g0001 a0001c0001t0002g0027 a0001c0001t0002g0049 a0001c0001t0002g0096 a0001c0001t0003g0063 a0001c0001t0004g0005 a0001c0001t0004g0008 a0001c0001t0004g0038 a0001c0001t0004g0104 a0001c0001t0005g0015 a0001c0001t0005g0042 a0001c0001t0005g0097 a0001c0001t0015g0030 a0001c0001t0015g0034 a0001c0001t0017g0004 a0001c0001t0017g0101 a0001c0001t0021g0055 a0001c0001t0022g0058 a0001c0001t0024g0080 a0001c0001t0028g0081 a0001c0001t0043g0032 a0001c0001t0045g0052 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0026 a0001c0002t0001g0036 a0001c0002t0001g0043 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0003g0056 a0001c0002t0003g0065 a0001c0002t0029g0037 a0001c0003t0001g0009 a0001c0003t0002g0045 a0001c0003t0005g0031 a0001c0003t0008g0057 a0001c0003t0008g0059 a0001c0003t0009g0085 a0001c0003t0010g0019 a0001c0003t0018g0068 a0001c0003t0037g0003 a0001c0003t0040g0011 a0001c0003t0044g0053 a0001c0004t0004g0084 a0001c0004t0004g0086 a0001c0004t0010g0020 a0001c0004t0023g0028 a0001c0004t0036g0099 a0001c0005t0002g0090 a0001c0005t0002g0098 a0001c0005t0010g0089 a0001c0005t0026g0079 a0001c0006t0001g0033 a0001c0006t0001g0102 a0001c0006t0003g0069 a0001c0007t0005g0002 a0001c0007t0006g0074 a0001c0008t0033g0051 a0001c0008t0038g0044 a0001c0010t0003g0054 a0001c0010t0008g0064 a0001c0011t0014g0007 a0001c0011t0030g0039 a0001c0012t0007g0046 a0001c0012t0007g0076 a0001c0014t0032g0023 a0001c0014t0039g0095 a0001c0015t0034g0075 a0001c0017t0006g0006 a0001c0018t0042g0083 a0001c0019t0003g0071 a0001c0020t0002g0010 a0001c0021t0027g0087 a0001c0022t0014g0050 a0001c0024t0003g0067 a0001c0025t0007g0012 a0001c0026t0003g0066 a0001c0029t0019g0060 a0001c0031t0002g0021 a0001c0032t0031g0103 a0001c0033t0020g0070 a0001c0036t0007g0100 a0001c0037t0006g0025 a0001c0038t0041g0047 a0002c0009t0012g0061 a0002c0009t0012g0062 a0002c0013t0016g0022 a0002c0013t0035g0035 a0002c0040t0016g0073 a0003c0016t0011g0082 a0003c0023t0011g0048 a0003c0027t0011g0013 a0003c0035t0025g0078 a0004c0034t0009g0041 a0004c0039t0009g0040 a0005c0030t0001g0077 a0006c0028t0006g0072	102	104	0.9808	14	c.65 others(23): Show c.659_*660insGAAGGGGCCGCCGG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	47/47	660	INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1D_chr3_53489611_53818733	53651366	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0055 a0001c0004t0002g0055	1	210	0.0048	14	c.623 others(29): Show c.623+457_623+470dupTTTTTTTTTTTTTT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	4/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53682365	T T	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0035 a0001c0008t0035	a0001c0008t0035g0010 a0001c0008t0035g0010	1	210	0.0048	14	c.122 others(33): Show c.1220+8567_1220+8580dupAAAAAAAAAAAAAA	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	8/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53713543	T T	TGTGTGTG others(7): Show TGTGTGTGTGTGAGA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0017 a0001c0009t0017	a0001c0009t0017g0085 a0001c0009t0017g0085	1	210	0.0048	14	c.139 others(33): Show c.1391-4757_1391-4756insTGTGTGTGTGAGAG	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	9/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53713543	T T	TGTGTGTG others(7): Show TGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02717.hp1 HG03041.hp1 HG01169.hp2 HG02717.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0009 a0001c0002t0013 a0001c0005t0040 a0001c0002t0009 a0001c0002t0013 a0001c0005t0040	a0001c0002t0009g0210 a0001c0002t0013g0044 a0001c0005t0040g0108 a0001c0002t0009g0210 a0001c0002t0013g0044 a0001c0005t0040g0108	3	210	0.0143	14	c.139 others(33): Show c.1391-4757_1391-4756insTGTGTGTGTGTGAG	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	9/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53782264	G G	GTATATAT others(7): Show GTATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00735.hp2 HG01081.hp1 others(11): Show HG00099.hp2 HG00735.hp2 HG01081.hp1 HG01175.hp2 HG02258.hp2 HG02273.hp1 HG02559.hp1 HG02698.hp2 HG03139.hp2 NA18522.hp2 NA18974.hp2 NA19056.hp2 NA19074.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0018 a0001c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0020 a0001c0001t0046 a0001c0001t0068 a0001c0002t0010 a0001c0002t0018 a0001c0003t0023 a0001c0003t0061 a0001c0018t0001 a0001c0022t0001	a0001c0001t0001g0015 a0001c0001t0002g0061 a0001c0001t0002g0099 others(11): Show a0001c0001t0001g0015 a0001c0001t0002g0061 a0001c0001t0002g0099 a0001c0001t0012g0166 a0001c0001t0020g0075 a0001c0001t0020g0087 a0001c0001t0046g0119 a0001c0001t0068g0001 a0001c0002t0010g0195 a0001c0002t0018g0111 a0001c0003t0023g0118 a0001c0003t0061g0176 a0001c0018t0001g0177 a0001c0022t0001g0165	14	210	0.0667	14	c.485 others(31): Show c.4852+613_4852+626dupATATATATATATAT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	40/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53782264	G G	GTGTATAT others(7): Show GTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0114 a0001c0014t0002g0114	1	210	0.0048	14	c.485 others(31): Show c.4852+598_4852+599insGTATATATATATAT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	40/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53782264	G G	GTGTGTAT others(7): Show GTGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01070.hp1 HG02559.hp2 HG00673.hp2 HG01070.hp1 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0012 a0001c0002 a0001c0003 a0001c0012	a0001c0002t0009 a0001c0003t0014 a0001c0012t0027 a0001c0002t0009 a0001c0003t0014 a0001c0012t0027	a0001c0002t0009g0107 a0001c0003t0014g0022 a0001c0012t0027g0193 a0001c0002t0009g0107 a0001c0003t0014g0022 a0001c0012t0027g0193	3	210	0.0143	14	c.485 others(31): Show c.4852+598_4852+599insGTGTATATATATAT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	40/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53787425	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01934.hp1 HG01952.hp1 others(8): Show HG01884.hp2 HG01934.hp1 HG01952.hp1 HG02559.hp1 HG02559.hp2 HG02886.hp2 HG03540.hp2 HG03942.hp2 HG06807.hp2 NA18974.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0012	a0001c0001t0003 a0001c0001t0057 a0001c0002t0036 others(6): Show a0001c0001t0003 a0001c0001t0057 a0001c0002t0036 a0001c0002t0083 a0001c0003t0004 a0001c0003t0023 a0001c0003t0037 a0001c0004t0002 a0001c0012t0027	a0001c0001t0003g0113 a0001c0001t0057g0179 a0001c0002t0036g0033 others(8): Show a0001c0001t0003g0113 a0001c0001t0057g0179 a0001c0002t0036g0033 a0001c0002t0083g0209 a0001c0003t0004g0163 a0001c0003t0023g0118 a0001c0003t0037g0020 a0001c0003t0037g0038 a0001c0004t0002g0050 a0001c0004t0002g0088 a0001c0012t0027g0193	11	210	0.0524	14	c.498 others(31): Show c.4983+489_4983+502dupGTGTGTGTGTGTGT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	41/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53810758	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02976.hp1 HG02897.hp2 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0063 a0001c0002t0010 a0001c0002t0063	a0001c0002t0010g0138 a0001c0002t0063g0191 a0001c0002t0010g0138 a0001c0002t0063g0191	2	210	0.0095	14	c.625 others(31): Show c.6253-340_6253-327dupAAAAAAAAAAAAAA	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	48/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53811434	G G	GTTCAAAA others(7): Show GTTCAAAAACAACAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0063 a0001c0002t0063	a0001c0002t0063g0191 a0001c0002t0063g0191	1	210	0.0048	14	c.28 others(21): Show c.28_*29insTTCAAAAACAACAA	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	49/49	29		chr3	TogoVar
CACNA1E_chr1_181478517_181813084	181508147	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0054 a0001c0004t0054	a0001c0004t0054g0018 a0001c0004t0054g0018	1	206	0.0049	14	c.267 others(31): Show c.267-2315_267-2302dupTGTGTGTGTGTGTG	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	1/47		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1E_chr1_181478517_181813084	181590414	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0034 a0002c0002t0034	a0002c0002t0034g0080 a0002c0002t0034g0080	1	206	0.0049	14	c.951 others(31): Show c.951+9639_951+9640insTATATATATATATA	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	6/47		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1E_chr1_181478517_181813084	181596557	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG03704.hp2 NA18942.hp1 others(1): Show HG02135.hp1 HG03704.hp2 NA18942.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0022 a0002c0002 a0001c0001 a0001c0022 a0002c0002	a0001c0001t0003 a0001c0001t0014 a0001c0022t0056 others(1): Show a0001c0001t0003 a0001c0001t0014 a0001c0022t0056 a0002c0002t0021	a0001c0001t0003g0130 a0001c0001t0014g0142 a0001c0022t0056g0176 others(1): Show a0001c0001t0003g0130 a0001c0001t0014g0142 a0001c0022t0056g0176 a0002c0002t0021g0115	4	206	0.0194	14	c.951 others(33): Show c.951+15808_951+15821dupGTGTGTGTGTGTGT	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	6/47		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1E_chr1_181478517_181813084	181759395	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0005 a0005	a0005c0027 a0005c0027	a0005c0027t0027 a0005c0027t0027	a0005c0027t0027g0174 a0005c0027t0027g0174	1	206	0.0049	14	c.460 others(31): Show c.4605+545_4605+558dupGTGTGTGTGTGTGT	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	32/47		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1E_chr1_181478517_181813084	181779819	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA19003.hp1 homoSapiens_chm13v2.hp1 HG02071.hp1 NA19003.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0016 a0001c0004t0045 a0001c0004t0054 a0001c0004t0016 a0001c0004t0045 a0001c0004t0054	a0001c0004t0016g0198 a0001c0004t0045g0047 a0001c0004t0054g0018 a0001c0004t0016g0198 a0001c0004t0045g0047 a0001c0004t0054g0018	3	206	0.0146	14	c.526 others(33): Show c.5268-1590_5268-1577dupCACACACACACACA	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	38/47		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1E_chr1_181478517_181813084	181795767	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01496.hp2 HG01891.hp1 others(8): Show HG01123.hp1 HG01496.hp2 HG01891.hp1 HG01934.hp2 HG02071.hp1 HG02300.hp1 HG03239.hp2 HG03516.hp1 HG03834.hp2 HG04115.hp1 HG04199.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0011	a0001c0001 a0001c0004 a0002c0002 others(3): Show a0001c0001 a0001c0004 a0002c0002 a0003c0003 a0004c0007 a0011c0017	a0001c0001t0019 a0001c0001t0052 a0001c0004t0045 others(5): Show a0001c0001t0019 a0001c0001t0052 a0001c0004t0045 a0002c0002t0057 a0003c0003t0001 a0003c0003t0022 a0004c0007t0023 a0011c0017t0001	a0001c0001t0019g0034 a0001c0001t0052g0081 a0001c0004t0045g0047 others(8): Show a0001c0001t0019g0034 a0001c0001t0052g0081 a0001c0004t0045g0047 a0002c0002t0057g0168 a0003c0003t0001g0033 a0003c0003t0001g0149 a0003c0003t0001g0200 a0003c0003t0022g0177 a0003c0003t0022g0193 a0004c0007t0023g0011 a0011c0017t0001g0020	11	206	0.0534	14	c.620 others(31): Show c.6208+730_6208+743dupATATATATATATAT	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	46/47		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1F_chrX_49200063_49238340	49235826	T T	TACACACA others(7): Show TACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01070.hp2 HG00741.hp2 HG01070.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0006 a0003c0004t0001g0169 a0003c0004t0001g0006 a0003c0004t0001g0169	2	290	0.0069	14	c.-25 others(25): Show c.-2531_-2518dupGTGTGTGTGTGTGT	CACNA1F	ENSG00000102001.13	transcript	ENST00000323022.10	protein_coding		2487		chrX	TogoVar
CACNA1F_chrX_49200063_49238340	49235861	A A	ACACACAC others(7): Show ACACACACACACACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG02622.hp2 HG01081.hp1 HG02622.hp2	a0004 a0004	a0004c0005 a0004c0007 a0004c0005 a0004c0007	a0004c0005t0001 a0004c0007t0001 a0004c0005t0001 a0004c0007t0001	a0004c0005t0001g0013 a0004c0007t0001g0049 a0004c0005t0001g0013 a0004c0007t0001g0049	2	290	0.0069	14	c.-25 others(25): Show c.-2553_-2552insCGTGTGTGTGTGTG	CACNA1F	ENSG00000102001.13	transcript	ENST00000323022.10	protein_coding		2522		chrX	TogoVar
CACNA1G_chr17_50555715_50632474	50564125	A A	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01070.hp2 HG01256.hp2 others(20): Show HG00642.hp2 HG01070.hp2 HG01256.hp2 HG01516.hp2 HG01891.hp2 HG02080.hp1 HG02451.hp1 HG02572.hp1 HG02615.hp1 HG02647.hp2 HG02683.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG04199.hp2 HG06807.hp1 NA18953.hp2 NA19057.hp1 NA20300.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0020 a0001c0026 a0001c0034 a0001c0040 a0001c0043 a0002c0014 a0006c0015	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(14): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0001 a0001c0003t0008 a0001c0004t0001 a0001c0005t0001 a0001c0006t0002 a0001c0008t0001 a0001c0020t0001 a0001c0026t0001 a0001c0034t0001 a0001c0040t0002 a0001c0043t0001 a0002c0014t0002 a0006c0015t0001	a0001c0001t0001g0102 a0001c0002t0001g0092 a0001c0002t0001g0097 others(19): Show a0001c0001t0001g0102 a0001c0002t0001g0092 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0002g0094 a0001c0002t0003g0095 a0001c0003t0001g0105 a0001c0003t0001g0106 a0001c0003t0001g0111 a0001c0003t0008g0226 a0001c0004t0001g0096 a0001c0004t0001g0103 a0001c0005t0001g0101 a0001c0006t0002g0100 a0001c0008t0001g0104 a0001c0020t0001g0107 a0001c0026t0001g0099 a0001c0034t0001g0108 a0001c0040t0002g0110 a0001c0043t0001g0109 a0002c0014t0002g0093 a0006c0015t0001g0003	23	246	0.0935	14	c.242 others(31): Show c.242+2449_242+2462dupGTGTGTGTGTGTGT	CACNA1G	ENSG00000006283.18	transcript	ENST00000359106.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr17	TogoVar
CACNA1G_chr17_50555715_50632474	50569015	T T	TGTGTGTG others(7): Show TGTGTGTGTGTGTTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00408.hp2 others(45): Show HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00558.hp1 HG00639.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01952.hp2 HG01981.hp2 HG02040.hp1 HG02080.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02602.hp2 HG02683.hp2 HG02896.hp1 HG03490.hp1 HG03492.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp2 HG03942.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18942.hp1 NA18942.hp2 NA18954.hp1 NA18961.hp1 NA18961.hp2 NA18973.hp2 NA18980.hp1 NA18983.hp1 NA19002.hp1 NA19002.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19056.hp1 NA19066.hp1 NA20300.hp1 NA20905.hp1	a0001 a0010 a0012 a0001 a0010 a0012	a0001c0001 a0001c0002 a0001c0005 others(8): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0007 a0001c0012 a0001c0024 a0001c0028 a0001c0045 a0010c0027 a0012c0025	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 others(13): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0002t0003 a0001c0005t0001 a0001c0005t0003 a0001c0006t0001 a0001c0006t0002 a0001c0007t0001 a0001c0007t0004 a0001c0012t0001 a0001c0024t0001 a0001c0028t0001 a0001c0045t0001 a0010c0027t0004 a0012c0025t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0011 others(44): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0102 a0001c0001t0001g0166 a0001c0001t0001g0170 a0001c0001t0001g0185 a0001c0001t0001g0203 a0001c0001t0001g0222 a0001c0001t0001g0238 a0001c0001t0004g0156 a0001c0001t0011g0001 a0001c0002t0003g0058 a0001c0005t0001g0054 a0001c0005t0003g0010 a0001c0005t0003g0050 a0001c0006t0001g0028 a0001c0006t0001g0033 a0001c0006t0001g0184 a0001c0006t0001g0241 a0001c0006t0002g0112 a0001c0007t0001g0049 a0001c0007t0001g0149 a0001c0007t0001g0202 a0001c0007t0001g0239 a0001c0007t0004g0154 a0001c0012t0001g0005 a0001c0024t0001g0014 a0001c0028t0001g0204 a0001c0045t0001g0043 a0010c0027t0004g0147 a0012c0025t0001g0035	48	246	0.1951	14	c.354 others(27): Show c.354+34_354+35insGTGTGTGTGTGTTG	CACNA1G	ENSG00000006283.18	transcript	ENST00000359106.10	protein_coding	2/37			chr17	TogoVar
CACNA1G_chr17_50555715_50632474	50570557	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00741.hp2 HG02559.hp2 others(8): Show HG00140.hp1 HG00741.hp2 HG02559.hp2 HG02615.hp1 HG02717.hp1 HG03017.hp2 HG03225.hp2 HG03486.hp1 HG03540.hp2 HG03704.hp2 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0005 others(5): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0007 a0001c0010 a0001c0020 a0003c0021	a0001c0001t0001 a0001c0002t0004 a0001c0005t0003 others(5): Show a0001c0001t0001 a0001c0002t0004 a0001c0005t0003 a0001c0006t0002 a0001c0007t0001 a0001c0010t0001 a0001c0020t0001 a0003c0021t0002	a0001c0001t0001g0017 a0001c0002t0004g0155 a0001c0002t0004g0174 others(8): Show a0001c0001t0001g0017 a0001c0002t0004g0155 a0001c0002t0004g0174 a0001c0005t0003g0045 a0001c0006t0002g0100 a0001c0007t0001g0049 a0001c0007t0001g0205 a0001c0010t0001g0072 a0001c0010t0001g0128 a0001c0020t0001g0107 a0003c0021t0002g0127	11	246	0.0447	14	c.586 others(29): Show c.586+773_586+786dupTGTGTGTGTGTGTG	CACNA1G	ENSG00000006283.18	transcript	ENST00000359106.10	protein_coding	4/37		INFO_REALIGN_3_PRIME	chr17	TogoVar
CACNA1G_chr17_50555715_50632474	50589912	C C	CTCTCTCT others(7): Show CTCTCTCTCTCTGTG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA19030.hp2 NA18522.hp1 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0004 a0001c0003t0004 a0001c0002t0004 a0001c0003t0004	a0001c0002t0004g0152 a0001c0003t0004g0173 a0001c0002t0004g0152 a0001c0003t0004g0173	2	246	0.0081	14	c.230 others(31): Show c.2302-558_2302-557insCTCTCTCTCTGTGT	CACNA1G	ENSG00000006283.18	transcript	ENST00000359106.10	protein_coding	9/37		INFO_REALIGN_3_PRIME	chr17	TogoVar
CACNA1G_chr17_50555715_50632474	50589912	C C	CTCTCTCT others(7): Show CTCTCTCTCTGTGTG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01069.hp2 HG01071.hp1	a0005 a0005	a0005c0018 a0005c0018	a0005c0018t0001 a0005c0018t0001	a0005c0018t0001g0176 a0005c0018t0001g0177 a0005c0018t0001g0176 a0005c0018t0001g0177	2	246	0.0081	14	c.230 others(31): Show c.2302-558_2302-557insCTCTCTCTGTGTGT	CACNA1G	ENSG00000006283.18	transcript	ENST00000359106.10	protein_coding	9/37		INFO_REALIGN_3_PRIME	chr17	TogoVar
CACNA1S_chr1_201034512_201117426	201036004	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG01952.hp2 others(16): Show HG00140.hp2 HG00408.hp1 HG01952.hp2 HG02056.hp2 HG02074.hp2 HG02165.hp1 HG02738.hp2 HG03688.hp1 HG04115.hp2 NA18946.hp2 NA18950.hp1 NA18959.hp2 NA18986.hp2 NA19062.hp1 NA19070.hp1 NA19077.hp2 NA19078.hp2 NA19081.hp2 NA19086.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0016 a0001c0031 a0004c0006	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0007t0001 a0001c0016t0001 a0001c0031t0001 a0004c0006t0001	a0001c0001t0001g0109 a0001c0001t0001g0201 a0001c0001t0001g0297 others(16): Show a0001c0001t0001g0109 a0001c0001t0001g0201 a0001c0001t0001g0297 a0001c0002t0001g0028 a0001c0002t0001g0119 a0001c0002t0001g0148 a0001c0002t0001g0204 a0001c0002t0001g0231 a0001c0002t0001g0277 a0001c0003t0001g0145 a0001c0003t0001g0159 a0001c0003t0001g0160 a0001c0007t0001g0062 a0001c0007t0001g0216 a0001c0016t0001g0129 a0001c0031t0001g0048 a0001c0031t0001g0209 a0004c0006t0001g0089 a0004c0006t0001g0205	19	314	0.0605	14	c.38 others(25): Show c.3826_*3827insCACACACACACACA	CACNA1S	ENSG00000081248.12	transcript	ENST00000362061.4	protein_coding		3507		chr1	TogoVar
CACNA1S_chr1_201034512_201117426	201056070	G G	GACACACA others(7): Show GACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02056.hp2 HG04115.hp1 others(12): Show HG00544.hp2 HG02056.hp2 HG04115.hp1 HG04115.hp2 NA18612.hp1 NA18945.hp1 NA18949.hp2 NA18967.hp1 NA18971.hp2 NA18981.hp1 NA19005.hp2 NA19043.hp2 NA19062.hp1 NA19078.hp1 NA19078.hp2	a0001 a0031 a0032 a0001 a0031 a0032	a0001c0001 a0001c0002 a0001c0007 others(7): Show a0001c0001 a0001c0002 a0001c0007 a0001c0009 a0001c0016 a0001c0021 a0001c0038 a0001c0090 a0031c0062 a0032c0091	a0001c0001t0001 a0001c0002t0001 a0001c0007t0001 others(7): Show a0001c0001t0001 a0001c0002t0001 a0001c0007t0001 a0001c0009t0001 a0001c0016t0001 a0001c0021t0001 a0001c0038t0001 a0001c0090t0001 a0031c0062t0001 a0032c0091t0001	a0001c0001t0001g0079 a0001c0002t0001g0204 a0001c0002t0001g0231 others(12): Show a0001c0001t0001g0079 a0001c0002t0001g0204 a0001c0002t0001g0231 a0001c0007t0001g0056 a0001c0007t0001g0162 a0001c0007t0001g0216 a0001c0009t0001g0264 a0001c0016t0001g0129 a0001c0016t0001g0152 a0001c0021t0001g0170 a0001c0038t0001g0096 a0001c0038t0001g0138 a0001c0090t0001g0112 a0031c0062t0001g0243 a0032c0091t0001g0033	15	314	0.0478	14	c.361 others(33): Show c.3610-1523_3610-1510dupGTGTGTGTGTGTGT	CACNA1S	ENSG00000081248.12	transcript	ENST00000362061.4	protein_coding	28/43			chr1	TogoVar
CACNA1S_chr1_201034512_201117426	201056080	C C	CACACACA others(7): Show CACACACACACACAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02486.hp1 HG03195.hp1 others(1): Show HG01243.hp1 HG02486.hp1 HG03195.hp1 NA18906.hp1	a0001 a0001	a0001c0004 a0001c0009 a0001c0011 a0001c0004 a0001c0009 a0001c0011	a0001c0004t0001 a0001c0009t0001 a0001c0011t0001 a0001c0004t0001 a0001c0009t0001 a0001c0011t0001	a0001c0004t0001g0059 a0001c0009t0001g0262 a0001c0011t0001g0014 others(1): Show a0001c0004t0001g0059 a0001c0009t0001g0262 a0001c0011t0001g0014 a0001c0011t0001g0016	4	314	0.0127	14	c.361 others(33): Show c.3610-1520_3610-1519insATGTGTGTGTGTGT	CACNA1S	ENSG00000081248.12	transcript	ENST00000362061.4	protein_coding	28/43			chr1	TogoVar
CACNA1S_chr1_201034512_201117426	201060591	T T	TCATCCTG others(7): Show TCATCCTGCCCTACC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00544.hp2 others(28): Show HG00280.hp2 HG00323.hp1 HG00544.hp2 HG00597.hp2 HG01516.hp2 HG02015.hp2 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02896.hp1 HG02897.hp1 HG03710.hp1 HG03831.hp2 NA18612.hp1 NA18747.hp2 NA18945.hp1 NA18945.hp2 NA18949.hp2 NA18950.hp2 NA18959.hp2 NA18967.hp1 NA18969.hp2 NA18971.hp2 NA18981.hp1 NA18989.hp1 NA19005.hp2 NA19054.hp2 NA19062.hp1 NA19062.hp2 NA19077.hp1 NA19078.hp1	a0001 a0003 a0014 others(4): Show a0001 a0003 a0014 a0015 a0022 a0031 a0032	a0001c0001 a0001c0007 a0001c0016 others(12): Show a0001c0001 a0001c0007 a0001c0016 a0001c0021 a0001c0026 a0001c0029 a0001c0038 a0001c0090 a0003c0057 a0003c0086 a0014c0027 a0015c0028 a0022c0041 a0031c0062 a0032c0091	a0001c0001t0001 a0001c0007t0001 a0001c0007t0002 others(14): Show a0001c0001t0001 a0001c0007t0001 a0001c0007t0002 a0001c0016t0001 a0001c0016t0002 a0001c0021t0001 a0001c0026t0001 a0001c0029t0001 a0001c0038t0001 a0001c0090t0001 a0003c0057t0001 a0003c0086t0001 a0014c0027t0001 a0015c0028t0001 a0022c0041t0001 a0031c0062t0001 a0032c0091t0001	a0001c0001t0001g0151 a0001c0007t0001g0056 a0001c0007t0001g0062 others(28): Show a0001c0001t0001g0151 a0001c0007t0001g0056 a0001c0007t0001g0062 a0001c0007t0001g0097 a0001c0007t0001g0111 a0001c0007t0001g0142 a0001c0007t0001g0162 a0001c0007t0001g0179 a0001c0007t0001g0216 a0001c0007t0001g0284 a0001c0007t0002g0303 a0001c0016t0001g0129 a0001c0016t0001g0152 a0001c0016t0002g0302 a0001c0021t0001g0170 a0001c0021t0001g0207 a0001c0021t0001g0232 a0001c0026t0001g0065 a0001c0029t0001g0049 a0001c0038t0001g0096 a0001c0038t0001g0138 a0001c0090t0001g0112 a0003c0057t0001g0291 a0003c0086t0001g0093 a0014c0027t0001g0181 a0014c0027t0001g0182 a0015c0028t0001g0058 a0015c0028t0001g0222 a0022c0041t0001g0044 a0031c0062t0001g0243 a0032c0091t0001g0033	31	314	0.0987	14	c.341 others(29): Show c.3414+53_3414+66dupGGTAGGGCAGGATG	CACNA1S	ENSG00000081248.12	transcript	ENST00000362061.4	protein_coding	26/43			chr1	TogoVar
CACNA2D1_chr7_81941444_82448777	81978753	G G	GTGTGTGT others(7): Show GTGTGTGTATATATA	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0121 a0001c0001t0006g0121	1	144	0.0069	14	c.195 others(33): Show c.1955+3813_1955+3814insTATATATACACACA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	24/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82055930	G G	GTGTATAT others(7): Show GTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0127 a0001c0001t0012g0127	1	144	0.0069	14	c.879 others(31): Show c.879+4497_879+4498insTATATATATATACA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	10/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82111428	G G	GTGTGTAT others(7): Show GTGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02257.hp1 HG02886.hp1 others(2): Show HG00639.hp2 HG02257.hp1 HG02886.hp1 HG02970.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012	a0001c0001t0005g0126 a0001c0001t0007g0059 a0001c0001t0007g0060 others(2): Show a0001c0001t0005g0126 a0001c0001t0007g0059 a0001c0001t0007g0060 a0001c0001t0007g0084 a0001c0001t0012g0102	5	144	0.0347	14	c.526 others(31): Show c.526+5615_526+5616insTATATATATACACA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	6/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82111444	A A	ATATATAT others(7): Show ATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0066 a0001c0001t0011g0066	1	144	0.0069	14	c.526 others(31): Show c.526+5599_526+5600insAAAATATATATATA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	6/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82137707	T T	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 NA19002.hp1 HG01167.hp1 HG01169.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0004g0071 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0004g0071	3	144	0.0208	14	c.355 others(31): Show c.355-1045_355-1032dupTTTTTTTTTTTTTT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	4/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82181041	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03041.hp1 HG01891.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0001 a0001c0001t0008 a0001c0002t0001	a0001c0001t0008g0083 a0001c0002t0001g0018 a0001c0001t0008g0083 a0001c0002t0001g0018	2	144	0.0139	14	c.295 others(33): Show c.295-10446_295-10433dupAAAAAAAAAAAAAA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82217390	C C	CACATACA others(7): Show CACATACATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0064 a0001c0002t0001g0064	1	144	0.0069	14	c.295 others(33): Show c.295-46782_295-46781insATATATATGTATGT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82217394	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02895.hp1 HG03041.hp1 others(5): Show HG02572.hp2 HG02895.hp1 HG03041.hp1 HG03130.hp1 HG03834.hp1 NA18522.hp1 NA18906.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 others(5): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001	a0001c0001t0004g0021 a0001c0001t0007g0084 a0001c0001t0008g0083 others(5): Show a0001c0001t0004g0021 a0001c0001t0007g0084 a0001c0001t0008g0083 a0001c0001t0010g0089 a0001c0001t0011g0028 a0001c0002t0001g0017 a0001c0002t0002g0108 a0001c0003t0001g0072	8	144	0.0556	14	c.295 others(33): Show c.295-46799_295-46786dupATATATATATATAT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82245676	A A	ACACACAC others(7): Show ACACACACACACACT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01261.hp2 HG02630.hp2 others(4): Show HG01167.hp2 HG01261.hp2 HG02630.hp2 HG02886.hp2 HG03453.hp2 HG03834.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 others(4): Show a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0017 a0001c0001t0021 a0001c0002t0010	a0001c0001t0006g0142 a0001c0001t0008g0023 a0001c0001t0009g0027 others(4): Show a0001c0001t0006g0142 a0001c0001t0008g0023 a0001c0001t0009g0027 a0001c0001t0011g0066 a0001c0001t0017g0091 a0001c0001t0021g0113 a0001c0002t0010g0092	7	144	0.0486	14	c.295 others(33): Show c.295-75068_295-75067insAGTGTGTGTGTGTG	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82258817	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0023 a0001c0001t0008g0023	1	144	0.0069	14	c.294 others(33): Show c.294+76304_294+76317dupAAAAAAAAAAAAAA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82332512	A A	AAGAAAGA others(7): Show AAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	144	0.0069	14	c.294 others(31): Show c.294+2609_294+2622dupCTTTCTTTCTTTCT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82432037	T T	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02886.hp1 HG03041.hp2 HG02630.hp1 HG02886.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0016 a0001c0001t0001 a0001c0001t0007 a0001c0001t0016	a0001c0001t0001g0058 a0001c0001t0007g0059 a0001c0001t0016g0019 a0001c0001t0001g0058 a0001c0001t0007g0059 a0001c0001t0016g0019	3	144	0.0208	14	c.95+ others(31): Show c.95+11314_95+11327dupTTTTTTTTTTTTTT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	1/38			chr7	TogoVar
CACNA2D2_chr3_50357613_50508634	50468379	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0179 a0002c0003t0003g0179	1	234	0.0043	14	c.288 others(31): Show c.288+7738_288+7739insCACACACACACACA	CACNA2D2	ENSG00000007402.12	transcript	ENST00000424201.7	protein_coding	2/37			chr3	TogoVar
CACNA2D2_chr3_50357613_50508634	50468380	A A	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA18940.hp1 NA18940.hp2 others(3): Show HG00673.hp1 NA18940.hp1 NA18940.hp2 NA18948.hp2 NA18967.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0014	a0001c0001t0001g0109 a0001c0001t0001g0199 a0001c0001t0002g0049 others(3): Show a0001c0001t0001g0109 a0001c0001t0001g0199 a0001c0001t0002g0049 a0001c0001t0002g0186 a0001c0001t0007g0022 a0001c0001t0014g0233	6	234	0.0256	14	c.288 others(31): Show c.288+7724_288+7737dupACACACACACACAC	CACNA2D2	ENSG00000007402.12	transcript	ENST00000424201.7	protein_coding	2/37			chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54125242	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA18522.hp1 HG02258.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0003 a0001c0001t0001 a0001c0005t0003	a0001c0001t0001g0016 a0001c0005t0003g0055 a0001c0001t0001g0016 a0001c0005t0003g0055	2	118	0.0170	14	c.204 others(31): Show c.204+1667_204+1680dupACACACACACACAC	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54141061	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01243.hp2 HG02486.hp2 others(5): Show HG01175.hp2 HG01243.hp2 HG02486.hp2 HG02572.hp1 HG02630.hp1 HG03041.hp1 HG03453.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0031	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0031t0001	a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0037 others(5): Show a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0003t0001g0042 a0001c0003t0001g0054 a0001c0031t0001g0032	8	118	0.0678	14	c.204 others(33): Show c.204+17480_204+17493dupTGTGTGTGTGTGTG	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54149267	G G	GCACACAC others(7): Show GCACACACACACACA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG03516.hp2 HG01934.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0028 a0001c0002 a0001c0028	a0001c0002t0002 a0001c0028t0001 a0001c0002t0002 a0001c0028t0001	a0001c0002t0002g0091 a0001c0028t0001g0090 a0001c0002t0002g0091 a0001c0028t0001g0090	2	118	0.0170	14	c.204 others(33): Show c.204+25692_204+25705dupCACACACACACACA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54149877	G G	GTGTCTCT others(7): Show GTGTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0010 a0001c0038t0010	a0001c0038t0010g0059 a0001c0038t0010g0059	1	118	0.0085	14	c.204 others(33): Show c.204+26284_204+26285insGTCTCTCTCTCTCT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37		INFO_REALIGN_3_PRIME	chr3	TogoVar

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