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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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	2194210	T T	TTCC TTCC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03098.hp2 HG02896.hp1 HG03098.hp2	a0001 a0006 a0001 a0006	a0001c0003 a0006c0028 a0001c0003 a0006c0028	a0001c0003t0005 a0006c0028t0006 a0001c0003t0005 a0006c0028t0006	a0001c0003t0005g0031 a0006c0028t0006g0072 a0001c0003t0005g0031 a0006c0028t0006g0072	2	104	0.0192	3	c.477 others(22): Show c.477+73791_477+73793dupCCT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2283020	C C	CTTT CTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02572.hp2 HG02723.hp1 others(1): Show HG02280.hp1 HG02572.hp2 HG02723.hp1 HG03225.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0029 a0002c0040 others(1): Show a0001c0001 a0001c0029 a0002c0040 a0003c0016	a0001c0001t0013 a0001c0029t0019 a0002c0040t0016 others(1): Show a0001c0001t0013 a0001c0029t0019 a0002c0040t0016 a0003c0016t0011	a0001c0001t0013g0014 a0001c0029t0019g0060 a0002c0040t0016g0073 others(1): Show a0001c0001t0013g0014 a0001c0029t0019g0060 a0002c0040t0016g0073 a0003c0016t0011g0082	4	104	0.0385	3	c.477 others(24): Show c.477+162602_477+162604dupTTT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2284293	A A	ATTT ATTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02647.hp2 HG02922.hp2 others(3): Show HG01891.hp2 HG02647.hp2 HG02922.hp2 HG03225.hp2 HG03486.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0008 others(2): Show a0001c0001 a0001c0004 a0001c0008 a0001c0033 a0001c0036	a0001c0001t0004 a0001c0001t0043 a0001c0004t0023 others(3): Show a0001c0001t0004 a0001c0001t0043 a0001c0004t0023 a0001c0008t0033 a0001c0033t0020 a0001c0036t0007	a0001c0001t0004g0008 a0001c0001t0043g0032 a0001c0004t0023g0028 others(3): Show a0001c0001t0004g0008 a0001c0001t0043g0032 a0001c0004t0023g0028 a0001c0008t0033g0051 a0001c0033t0020g0070 a0001c0036t0007g0100	6	104	0.0577	3	c.477 others(24): Show c.477+163878_477+163880dupTTT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2310352	A A	ATAT ATAT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG04115.hp2 NA18966.hp2 HG03239.hp1 HG04115.hp2 NA18966.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0010 a0001c0002 a0001c0006 a0001c0010	a0001c0002t0003 a0001c0006t0003 a0001c0010t0008 a0001c0002t0003 a0001c0006t0003 a0001c0010t0008	a0001c0002t0003g0056 a0001c0006t0003g0069 a0001c0010t0008g0064 a0001c0002t0003g0056 a0001c0006t0003g0069 a0001c0010t0008g0064	3	104	0.0289	3	c.478 others(24): Show c.478-138624_478-138623insTAT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46			chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2360789	A A	AGTC AGTC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01891.hp2 HG02040.hp1 others(30): Show HG01106.hp2 HG01891.hp2 HG02040.hp1 HG02145.hp1 HG02451.hp2 HG02572.hp1 HG02647.hp2 HG02809.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 NA18906.hp1 NA18906.hp2 NA18966.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(16): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0011 a0001c0012 a0001c0024 a0001c0025 a0001c0026 a0001c0032 a0001c0033 a0001c0037 a0002c0013 a0003c0035 a0004c0034 a0004c0039	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0013 a0001c0001t0015 a0001c0001t0024 a0001c0001t0028 a0001c0001t0043 a0001c0002t0003 a0001c0003t0002 a0001c0003t0009 a0001c0003t0018 a0001c0003t0037 a0001c0004t0004 a0001c0004t0023 a0001c0006t0001 a0001c0007t0006 a0001c0008t0033 a0001c0011t0030 a0001c0012t0007 a0001c0024t0003 a0001c0025t0007 a0001c0026t0003 a0001c0032t0031 a0001c0033t0020 a0001c0037t0006 a0002c0013t0016 a0003c0035t0025 a0004c0034t0009 a0004c0039t0009	a0001c0001t0001g0029 a0001c0001t0002g0027 a0001c0001t0003g0063 others(30): Show a0001c0001t0001g0029 a0001c0001t0002g0027 a0001c0001t0003g0063 a0001c0001t0004g0008 a0001c0001t0005g0097 a0001c0001t0013g0024 a0001c0001t0015g0030 a0001c0001t0024g0080 a0001c0001t0028g0081 a0001c0001t0043g0032 a0001c0002t0003g0056 a0001c0003t0002g0045 a0001c0003t0009g0085 a0001c0003t0018g0068 a0001c0003t0037g0003 a0001c0004t0004g0086 a0001c0004t0023g0028 a0001c0006t0001g0102 a0001c0007t0006g0074 a0001c0008t0033g0051 a0001c0011t0030g0039 a0001c0012t0007g0046 a0001c0012t0007g0076 a0001c0024t0003g0067 a0001c0025t0007g0012 a0001c0026t0003g0066 a0001c0032t0031g0103 a0001c0033t0020g0070 a0001c0037t0006g0025 a0002c0013t0016g0022 a0003c0035t0025g0078 a0004c0034t0009g0041 a0004c0039t0009g0040	33	104	0.3173	3	c.478 others(22): Show c.478-88185_478-88184insCGT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2369403	C C	CTTT CTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03139.hp1 HG03139.hp2 others(6): Show HG02451.hp2 HG03139.hp1 HG03139.hp2 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 NA18906.hp2 NA19043.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0006 others(4): Show a0001c0001 a0001c0003 a0001c0006 a0001c0025 a0001c0026 a0002c0013 a0004c0039	a0001c0001t0002 a0001c0001t0013 a0001c0001t0015 others(6): Show a0001c0001t0002 a0001c0001t0013 a0001c0001t0015 a0001c0003t0037 a0001c0006t0001 a0001c0025t0007 a0001c0026t0003 a0002c0013t0035 a0004c0039t0009	a0001c0001t0002g0027 a0001c0001t0013g0024 a0001c0001t0015g0030 others(6): Show a0001c0001t0002g0027 a0001c0001t0013g0024 a0001c0001t0015g0030 a0001c0003t0037g0003 a0001c0006t0001g0102 a0001c0025t0007g0012 a0001c0026t0003g0066 a0002c0013t0035g0035 a0004c0039t0009g0040	9	104	0.0865	3	c.478 others(22): Show c.478-79562_478-79560dupTTT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2391612	A A	AAAC AAAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01071.hp1 HG01071.hp2 others(57): Show HG00140.hp1 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01891.hp1 HG01993.hp1 HG01993.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02572.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03579.hp2 HG04115.hp1 HG04115.hp2 HG06807.hp1 HG06807.hp2 NA18966.hp1 NA18989.hp1 NA18989.hp2 NA19003.hp1 NA19003.hp2 NA19030.hp2 NA19043.hp2 NA20300.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(21): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0010 a0001c0011 a0001c0014 a0001c0017 a0001c0020 a0001c0021 a0001c0022 a0001c0031 a0001c0032 a0001c0033 a0001c0036 a0001c0038 a0002c0040 a0003c0023 a0003c0027 a0004c0034 a0005c0030	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(43): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0013 a0001c0001t0015 a0001c0001t0021 a0001c0001t0022 a0001c0001t0045 a0001c0002t0001 a0001c0002t0003 a0001c0002t0029 a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 a0001c0003t0008 a0001c0003t0010 a0001c0003t0037 a0001c0003t0040 a0001c0003t0044 a0001c0004t0010 a0001c0004t0036 a0001c0005t0002 a0001c0005t0010 a0001c0005t0026 a0001c0006t0001 a0001c0006t0003 a0001c0008t0038 a0001c0010t0003 a0001c0011t0014 a0001c0011t0030 a0001c0014t0032 a0001c0017t0006 a0001c0020t0002 a0001c0021t0027 a0001c0022t0014 a0001c0031t0002 a0001c0032t0031 a0001c0033t0020 a0001c0036t0007 a0001c0038t0041 a0002c0040t0016 a0003c0023t0011 a0003c0027t0011 a0004c0034t0009 a0005c0030t0001	a0001c0001t0001g0088 a0001c0001t0002g0001 a0001c0001t0002g0049 others(57): Show a0001c0001t0001g0088 a0001c0001t0002g0001 a0001c0001t0002g0049 a0001c0001t0004g0005 a0001c0001t0004g0008 a0001c0001t0004g0038 a0001c0001t0004g0104 a0001c0001t0005g0042 a0001c0001t0013g0014 a0001c0001t0013g0024 a0001c0001t0015g0030 a0001c0001t0015g0034 a0001c0001t0021g0055 a0001c0001t0022g0058 a0001c0001t0045g0052 a0001c0002t0001g0016 a0001c0002t0001g0026 a0001c0002t0001g0036 a0001c0002t0001g0043 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0003g0065 a0001c0002t0029g0037 a0001c0003t0001g0009 a0001c0003t0002g0045 a0001c0003t0005g0031 a0001c0003t0008g0059 a0001c0003t0010g0019 a0001c0003t0037g0003 a0001c0003t0040g0011 a0001c0003t0044g0053 a0001c0004t0010g0020 a0001c0004t0036g0099 a0001c0005t0002g0090 a0001c0005t0010g0089 a0001c0005t0026g0079 a0001c0006t0001g0033 a0001c0006t0001g0102 a0001c0006t0003g0069 a0001c0008t0038g0044 a0001c0010t0003g0054 a0001c0011t0014g0007 a0001c0011t0030g0039 a0001c0014t0032g0023 a0001c0017t0006g0006 a0001c0020t0002g0010 a0001c0021t0027g0087 a0001c0022t0014g0050 a0001c0031t0002g0021 a0001c0032t0031g0103 a0001c0033t0020g0070 a0001c0036t0007g0100 a0001c0038t0041g0047 a0002c0040t0016g0073 a0003c0023t0011g0048 a0003c0027t0011g0013 a0004c0034t0009g0041 a0005c0030t0001g0077	60	104	0.5769	3	c.478 others(22): Show c.478-57361_478-57359dupCAA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2428148	A A	ACTG ACTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG01071.hp2 others(83): Show HG00140.hp1 HG00140.hp2 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 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 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG04115.hp1 HG04115.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18966.hp2 NA18989.hp1 NA18989.hp2 NA19003.hp1 NA19003.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0002 a0001c0003 others(30): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0010 a0001c0011 a0001c0012 a0001c0014 a0001c0017 a0001c0019 a0001c0020 a0001c0021 a0001c0024 a0001c0025 a0001c0026 a0001c0029 a0001c0032 a0001c0033 a0001c0037 a0002c0009 a0002c0013 a0002c0040 a0003c0016 a0003c0023 a0003c0027 a0003c0035 a0004c0039 a0005c0030 a0006c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(62): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0001t0028 a0001c0001t0045 a0001c0002t0001 a0001c0002t0003 a0001c0002t0029 a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 a0001c0003t0008 a0001c0003t0009 a0001c0003t0010 a0001c0003t0018 a0001c0003t0040 a0001c0003t0044 a0001c0004t0004 a0001c0004t0010 a0001c0004t0023 a0001c0004t0036 a0001c0005t0002 a0001c0005t0010 a0001c0005t0026 a0001c0006t0001 a0001c0006t0003 a0001c0007t0005 a0001c0007t0006 a0001c0008t0033 a0001c0008t0038 a0001c0010t0003 a0001c0010t0008 a0001c0011t0014 a0001c0011t0030 a0001c0012t0007 a0001c0014t0032 a0001c0014t0039 a0001c0017t0006 a0001c0019t0003 a0001c0020t0002 a0001c0021t0027 a0001c0024t0003 a0001c0025t0007 a0001c0026t0003 a0001c0029t0019 a0001c0032t0031 a0001c0033t0020 a0001c0037t0006 a0002c0009t0012 a0002c0013t0016 a0002c0013t0035 a0002c0040t0016 a0003c0016t0011 a0003c0023t0011 a0003c0027t0011 a0003c0035t0025 a0004c0039t0009 a0005c0030t0001 a0006c0028t0006	a0001c0001t0001g0029 a0001c0001t0001g0088 a0001c0001t0002g0001 others(83): Show a0001c0001t0001g0029 a0001c0001t0001g0088 a0001c0001t0002g0001 a0001c0001t0002g0027 a0001c0001t0002g0049 a0001c0001t0002g0096 a0001c0001t0004g0005 a0001c0001t0004g0008 a0001c0001t0004g0038 a0001c0001t0004g0104 a0001c0001t0005g0042 a0001c0001t0005g0097 a0001c0001t0013g0014 a0001c0001t0013g0024 a0001c0001t0015g0030 a0001c0001t0015g0034 a0001c0001t0017g0004 a0001c0001t0017g0101 a0001c0001t0021g0055 a0001c0001t0022g0058 a0001c0001t0028g0081 a0001c0001t0045g0052 a0001c0002t0001g0016 a0001c0002t0001g0036 a0001c0002t0001g0043 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0003g0056 a0001c0002t0003g0065 a0001c0002t0029g0037 a0001c0003t0001g0009 a0001c0003t0002g0045 a0001c0003t0005g0031 a0001c0003t0008g0057 a0001c0003t0008g0059 a0001c0003t0009g0085 a0001c0003t0010g0019 a0001c0003t0018g0068 a0001c0003t0040g0011 a0001c0003t0044g0053 a0001c0004t0004g0084 a0001c0004t0004g0086 a0001c0004t0010g0020 a0001c0004t0023g0028 a0001c0004t0036g0099 a0001c0005t0002g0098 a0001c0005t0010g0089 a0001c0005t0026g0079 a0001c0006t0001g0033 a0001c0006t0001g0102 a0001c0006t0003g0069 a0001c0007t0005g0002 a0001c0007t0006g0074 a0001c0008t0033g0051 a0001c0008t0038g0044 a0001c0010t0003g0054 a0001c0010t0008g0064 a0001c0011t0014g0007 a0001c0011t0030g0039 a0001c0012t0007g0076 a0001c0014t0032g0023 a0001c0014t0039g0095 a0001c0017t0006g0006 a0001c0019t0003g0071 a0001c0020t0002g0010 a0001c0021t0027g0087 a0001c0024t0003g0067 a0001c0025t0007g0012 a0001c0026t0003g0066 a0001c0029t0019g0060 a0001c0032t0031g0103 a0001c0033t0020g0070 a0001c0037t0006g0025 a0002c0009t0012g0061 a0002c0009t0012g0062 a0002c0013t0016g0022 a0002c0013t0035g0035 a0002c0040t0016g0073 a0003c0016t0011g0082 a0003c0023t0011g0048 a0003c0027t0011g0013 a0003c0035t0025g0078 a0004c0039t0009g0040 a0005c0030t0001g0077 a0006c0028t0006g0072	86	104	0.8269	3	c.478 others(22): Show c.478-20826_478-20825insGCT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2450553	C C	CAAA CAAA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01891.hp2 HG02040.hp1 others(23): Show HG01071.hp1 HG01891.hp2 HG02040.hp1 HG02055.hp1 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02572.hp1 HG02809.hp1 HG02886.hp1 HG02922.hp2 HG02965.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp2 HG03471.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG04115.hp1 HG04115.hp2 NA18906.hp1 NA19030.hp2 NA19043.hp2 NA20300.hp1 NA21309.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0012 a0001c0017 a0001c0018 a0001c0020 a0001c0031 a0001c0032 a0001c0033 a0002c0013 a0006c0028	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(21): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0028 a0001c0002t0001 a0001c0003t0002 a0001c0003t0018 a0001c0003t0037 a0001c0003t0040 a0001c0004t0004 a0001c0004t0023 a0001c0004t0036 a0001c0006t0001 a0001c0006t0003 a0001c0012t0007 a0001c0017t0006 a0001c0018t0042 a0001c0020t0002 a0001c0031t0002 a0001c0032t0031 a0001c0033t0020 a0002c0013t0016 a0002c0013t0035 a0006c0028t0006	a0001c0001t0001g0029 a0001c0001t0003g0063 a0001c0001t0005g0015 others(23): Show a0001c0001t0001g0029 a0001c0001t0003g0063 a0001c0001t0005g0015 a0001c0001t0005g0042 a0001c0001t0005g0097 a0001c0001t0028g0081 a0001c0002t0001g0093 a0001c0003t0002g0045 a0001c0003t0018g0068 a0001c0003t0037g0003 a0001c0003t0040g0011 a0001c0004t0004g0086 a0001c0004t0023g0028 a0001c0004t0036g0099 a0001c0006t0001g0102 a0001c0006t0003g0069 a0001c0012t0007g0046 a0001c0017t0006g0006 a0001c0018t0042g0083 a0001c0020t0002g0010 a0001c0031t0002g0021 a0001c0032t0031g0103 a0001c0033t0020g0070 a0002c0013t0016g0022 a0002c0013t0035g0035 a0006c0028t0006g0072	26	104	0.2500	3	c.617 others(20): Show c.617+1461_617+1463dupAAA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	4/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2468461	T T	TAAA TAAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG03098.hp2 HG03486.hp2 HG01496.hp2 HG03098.hp2 HG03486.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0036 a0003c0027 a0006c0028 a0001c0036 a0003c0027 a0006c0028	a0001c0036t0007 a0003c0027t0011 a0006c0028t0006 a0001c0036t0007 a0003c0027t0011 a0006c0028t0006	a0001c0036t0007g0100 a0003c0027t0011g0013 a0006c0028t0006g0072 a0001c0036t0007g0100 a0003c0027t0011g0013 a0006c0028t0006g0072	3	104	0.0289	3	c.757 others(22): Show c.757+10755_757+10756insAAA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	5/46			chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2484909	C C	CTTT CTTT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01891.hp1 HG02040.hp2 others(35): Show HG01071.hp1 HG01891.hp1 HG02040.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02572.hp1 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp2 NA18906.hp1 NA18906.hp2 NA19030.hp2 NA19043.hp1 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0001c0004 others(16): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0011 a0001c0015 a0001c0017 a0001c0018 a0001c0020 a0001c0025 a0001c0031 a0001c0036 a0001c0037 a0001c0038 a0002c0040 a0003c0016 a0004c0039	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0028 a0001c0001t0045 a0001c0003t0001 a0001c0003t0005 a0001c0003t0018 a0001c0003t0037 a0001c0003t0040 a0001c0004t0004 a0001c0004t0010 a0001c0005t0010 a0001c0005t0026 a0001c0006t0001 a0001c0008t0033 a0001c0011t0014 a0001c0015t0034 a0001c0017t0006 a0001c0018t0042 a0001c0020t0002 a0001c0025t0007 a0001c0031t0002 a0001c0036t0007 a0001c0037t0006 a0001c0038t0041 a0002c0040t0016 a0003c0016t0011 a0004c0039t0009	a0001c0001t0001g0029 a0001c0001t0001g0088 a0001c0001t0002g0027 others(35): Show a0001c0001t0001g0029 a0001c0001t0001g0088 a0001c0001t0002g0027 a0001c0001t0002g0096 a0001c0001t0003g0063 a0001c0001t0004g0008 a0001c0001t0005g0015 a0001c0001t0005g0042 a0001c0001t0013g0024 a0001c0001t0015g0030 a0001c0001t0015g0034 a0001c0001t0017g0101 a0001c0001t0028g0081 a0001c0001t0045g0052 a0001c0003t0001g0009 a0001c0003t0005g0031 a0001c0003t0018g0068 a0001c0003t0037g0003 a0001c0003t0040g0011 a0001c0004t0004g0086 a0001c0004t0010g0020 a0001c0005t0010g0089 a0001c0005t0026g0079 a0001c0006t0001g0102 a0001c0008t0033g0051 a0001c0011t0014g0007 a0001c0015t0034g0075 a0001c0017t0006g0006 a0001c0018t0042g0083 a0001c0020t0002g0010 a0001c0025t0007g0012 a0001c0031t0002g0021 a0001c0036t0007g0100 a0001c0037t0006g0025 a0001c0038t0041g0047 a0002c0040t0016g0073 a0003c0016t0011g0082 a0004c0039t0009g0040	38	104	0.3654	3	c.758 others(20): Show c.758-1184_758-1182dupTTT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	5/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2491633	A A	AAGG AAGG	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01358.hp1 HG01496.hp1 others(20): Show HG01071.hp2 HG01358.hp1 HG01496.hp1 HG01891.hp2 HG01993.hp1 HG02145.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02572.hp1 HG02647.hp1 HG02886.hp1 HG02922.hp1 HG03139.hp2 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03492.hp2 HG03540.hp2 NA18989.hp2 NA20300.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0011 a0001c0012 a0001c0029 a0002c0013 a0003c0023	a0001c0001t0004 a0001c0001t0005 a0001c0001t0017 others(15): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0017 a0001c0002t0001 a0001c0002t0003 a0001c0003t0008 a0001c0003t0010 a0001c0003t0018 a0001c0003t0040 a0001c0004t0004 a0001c0004t0023 a0001c0006t0001 a0001c0007t0005 a0001c0011t0030 a0001c0012t0007 a0001c0029t0019 a0002c0013t0035 a0003c0023t0011	a0001c0001t0004g0005 a0001c0001t0005g0015 a0001c0001t0005g0042 others(20): Show a0001c0001t0004g0005 a0001c0001t0005g0015 a0001c0001t0005g0042 a0001c0001t0017g0004 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0026 a0001c0002t0001g0092 a0001c0002t0001g0094 a0001c0002t0003g0065 a0001c0003t0008g0059 a0001c0003t0010g0019 a0001c0003t0018g0068 a0001c0003t0040g0011 a0001c0004t0004g0084 a0001c0004t0023g0028 a0001c0006t0001g0102 a0001c0007t0005g0002 a0001c0011t0030g0039 a0001c0012t0007g0046 a0001c0029t0019g0060 a0002c0013t0035g0035 a0003c0023t0011g0048	23	104	0.2212	3	c.917 others(20): Show c.917-1540_917-1538dupGGA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	6/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2501209	C C	CAAA CAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02647.hp2 HG02723.hp1 others(3): Show HG02572.hp1 HG02647.hp2 HG02723.hp1 HG02897.hp2 HG03516.hp1 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0008 others(2): Show a0001c0001 a0001c0003 a0001c0008 a0001c0026 a0002c0040	a0001c0001t0004 a0001c0001t0015 a0001c0003t0018 others(3): Show a0001c0001t0004 a0001c0001t0015 a0001c0003t0018 a0001c0008t0033 a0001c0026t0003 a0002c0040t0016	a0001c0001t0004g0104 a0001c0001t0015g0034 a0001c0003t0018g0068 others(3): Show a0001c0001t0004g0104 a0001c0001t0015g0034 a0001c0003t0018g0068 a0001c0008t0033g0051 a0001c0026t0003g0066 a0002c0040t0016g0073	6	104	0.0577	3	c.111 others(22): Show c.1114-3204_1114-3202dupAAA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	7/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2572297	T T	TTCC TTCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG01071.hp1 others(49): Show HG00140.hp1 HG00140.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp2 HG01358.hp1 HG01358.hp2 HG01891.hp2 HG02040.hp2 HG02055.hp1 HG02145.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG06807.hp1 HG06807.hp2 NA18966.hp2 NA18989.hp2 NA19003.hp1 NA20300.hp1 NA20300.hp2 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0001 a0001c0002 a0001c0003 others(20): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0010 a0001c0012 a0001c0014 a0001c0018 a0001c0019 a0001c0022 a0001c0029 a0001c0031 a0001c0036 a0001c0037 a0002c0009 a0002c0013 a0002c0040 a0003c0016 a0005c0030 a0006c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(36): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0022 a0001c0001t0024 a0001c0001t0028 a0001c0001t0043 a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0003t0037 a0001c0004t0004 a0001c0004t0023 a0001c0004t0036 a0001c0005t0002 a0001c0005t0010 a0001c0007t0005 a0001c0007t0006 a0001c0008t0038 a0001c0010t0008 a0001c0012t0007 a0001c0014t0039 a0001c0018t0042 a0001c0019t0003 a0001c0022t0014 a0001c0029t0019 a0001c0031t0002 a0001c0036t0007 a0001c0037t0006 a0002c0009t0012 a0002c0013t0016 a0002c0040t0016 a0003c0016t0011 a0005c0030t0001 a0006c0028t0006	a0001c0001t0001g0088 a0001c0001t0002g0001 a0001c0001t0002g0049 others(49): Show a0001c0001t0001g0088 a0001c0001t0002g0001 a0001c0001t0002g0049 a0001c0001t0002g0096 a0001c0001t0004g0008 a0001c0001t0004g0104 a0001c0001t0005g0097 a0001c0001t0013g0014 a0001c0001t0013g0024 a0001c0001t0015g0030 a0001c0001t0017g0004 a0001c0001t0017g0101 a0001c0001t0022g0058 a0001c0001t0024g0080 a0001c0001t0028g0081 a0001c0001t0043g0032 a0001c0002t0001g0026 a0001c0002t0001g0036 a0001c0002t0001g0043 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0094 a0001c0002t0003g0056 a0001c0002t0003g0065 a0001c0003t0001g0009 a0001c0003t0037g0003 a0001c0004t0004g0084 a0001c0004t0004g0086 a0001c0004t0023g0028 a0001c0004t0036g0099 a0001c0005t0002g0098 a0001c0005t0010g0089 a0001c0007t0005g0002 a0001c0007t0006g0074 a0001c0008t0038g0044 a0001c0010t0008g0064 a0001c0012t0007g0046 a0001c0014t0039g0095 a0001c0018t0042g0083 a0001c0019t0003g0071 a0001c0022t0014g0050 a0001c0029t0019g0060 a0001c0031t0002g0021 a0001c0036t0007g0100 a0001c0037t0006g0025 a0002c0009t0012g0061 a0002c0009t0012g0062 a0002c0013t0016g0022 a0002c0040t0016g0073 a0003c0016t0011g0082 a0005c0030t0001g0077 a0006c0028t0006g0072	52	104	0.5000	3	c.189 others(22): Show c.1895+4524_1895+4526dupCTC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	13/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2572467	T T	TTCC TTCC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01993.hp1 HG01993.hp2 others(27): Show HG01496.hp1 HG01993.hp1 HG01993.hp2 HG02040.hp1 HG02055.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02572.hp1 HG02886.hp1 HG02897.hp2 HG02922.hp2 HG03041.hp1 HG03139.hp2 HG03209.hp1 HG03486.hp1 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG04115.hp2 NA18906.hp2 NA18966.hp1 NA18989.hp1 NA19003.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0010 a0001c0014 a0001c0017 a0001c0020 a0001c0021 a0001c0025 a0001c0026 a0001c0032 a0001c0033 a0002c0013 a0003c0023	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(23): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0015 a0001c0001t0045 a0001c0002t0001 a0001c0002t0029 a0001c0003t0002 a0001c0003t0008 a0001c0003t0010 a0001c0003t0018 a0001c0004t0004 a0001c0005t0002 a0001c0006t0001 a0001c0006t0003 a0001c0010t0003 a0001c0014t0032 a0001c0017t0006 a0001c0020t0002 a0001c0021t0027 a0001c0025t0007 a0001c0026t0003 a0001c0032t0031 a0001c0033t0020 a0002c0013t0035 a0003c0023t0011	a0001c0001t0002g0027 a0001c0001t0004g0005 a0001c0001t0004g0038 others(27): Show a0001c0001t0002g0027 a0001c0001t0004g0005 a0001c0001t0004g0038 a0001c0001t0005g0015 a0001c0001t0015g0034 a0001c0001t0045g0052 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0029g0037 a0001c0003t0002g0045 a0001c0003t0008g0057 a0001c0003t0008g0059 a0001c0003t0010g0019 a0001c0003t0018g0068 a0001c0004t0004g0086 a0001c0005t0002g0090 a0001c0006t0001g0033 a0001c0006t0001g0102 a0001c0006t0003g0069 a0001c0010t0003g0054 a0001c0014t0032g0023 a0001c0017t0006g0006 a0001c0020t0002g0010 a0001c0021t0027g0087 a0001c0025t0007g0012 a0001c0026t0003g0066 a0001c0032t0031g0103 a0001c0033t0020g0070 a0002c0013t0035g0035 a0003c0023t0011g0048	30	104	0.2885	3	c.189 others(22): Show c.1895+4678_1895+4680dupCCT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	13/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2572482	T T	TTCC TTCC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01993.hp1 HG01993.hp2 others(21): Show HG01496.hp1 HG01993.hp1 HG01993.hp2 HG02040.hp1 HG02257.hp1 HG02273.hp1 HG02280.hp2 HG02886.hp1 HG02897.hp2 HG03041.hp1 HG03139.hp2 HG03209.hp1 HG03486.hp1 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG04115.hp2 NA18906.hp2 NA18966.hp1 NA19003.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0014 a0001c0020 a0001c0025 a0001c0026 a0001c0032 a0002c0013 a0003c0023	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(17): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0015 a0001c0002t0001 a0001c0002t0029 a0001c0003t0002 a0001c0003t0008 a0001c0003t0010 a0001c0004t0004 a0001c0005t0002 a0001c0006t0001 a0001c0006t0003 a0001c0014t0032 a0001c0020t0002 a0001c0025t0007 a0001c0026t0003 a0001c0032t0031 a0002c0013t0035 a0003c0023t0011	a0001c0001t0002g0027 a0001c0001t0004g0005 a0001c0001t0004g0038 others(21): Show a0001c0001t0002g0027 a0001c0001t0004g0005 a0001c0001t0004g0038 a0001c0001t0005g0015 a0001c0001t0015g0034 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0029g0037 a0001c0003t0002g0045 a0001c0003t0008g0057 a0001c0003t0008g0059 a0001c0003t0010g0019 a0001c0004t0004g0086 a0001c0005t0002g0090 a0001c0006t0001g0033 a0001c0006t0001g0102 a0001c0006t0003g0069 a0001c0014t0032g0023 a0001c0020t0002g0010 a0001c0025t0007g0012 a0001c0026t0003g0066 a0001c0032t0031g0103 a0002c0013t0035g0035 a0003c0023t0011g0048	24	104	0.2308	3	c.189 others(22): Show c.1895+4703_1895+4705dupCTC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	13/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2579557	G G	GTAT GTAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp2 HG02257.hp2 others(16): Show HG02055.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02572.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03098.hp2 HG03225.hp1 HG03471.hp2 NA18906.hp1 NA19030.hp1 NA19043.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0003 a0001c0004 others(11): Show a0001c0001 a0001c0003 a0001c0004 a0001c0011 a0001c0012 a0001c0017 a0001c0018 a0001c0022 a0001c0029 a0001c0033 a0001c0037 a0003c0016 a0003c0023 a0006c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0015 a0001c0001t0045 a0001c0003t0018 a0001c0004t0036 a0001c0011t0030 a0001c0012t0007 a0001c0017t0006 a0001c0018t0042 a0001c0022t0014 a0001c0029t0019 a0001c0033t0020 a0001c0037t0006 a0003c0016t0011 a0003c0023t0011 a0006c0028t0006	a0001c0001t0001g0029 a0001c0001t0002g0027 a0001c0001t0005g0042 others(16): Show a0001c0001t0001g0029 a0001c0001t0002g0027 a0001c0001t0005g0042 a0001c0001t0015g0030 a0001c0001t0015g0034 a0001c0001t0045g0052 a0001c0003t0018g0068 a0001c0004t0036g0099 a0001c0011t0030g0039 a0001c0012t0007g0076 a0001c0017t0006g0006 a0001c0018t0042g0083 a0001c0022t0014g0050 a0001c0029t0019g0060 a0001c0033t0020g0070 a0001c0037t0006g0025 a0003c0016t0011g0082 a0003c0023t0011g0048 a0006c0028t0006g0072	19	104	0.1827	3	c.189 others(22): Show c.1896-2031_1896-2029dupATT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	13/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2675614	A A	AAAG AAAG	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA18906.hp2 NA19030.hp1 others(1): Show HG03486.hp2 NA18906.hp2 NA19030.hp1 NA21309.hp2	a0001 a0001	a0001c0012 a0001c0025 a0001c0036 a0001c0012 a0001c0025 a0001c0036	a0001c0012t0007 a0001c0025t0007 a0001c0036t0007 a0001c0012t0007 a0001c0025t0007 a0001c0036t0007	a0001c0012t0007g0046 a0001c0012t0007g0076 a0001c0025t0007g0012 others(1): Show a0001c0012t0007g0046 a0001c0012t0007g0076 a0001c0025t0007g0012 a0001c0036t0007g0100	4	104	0.0385	3	c.482 others(20): Show c.4828+973_4828+975dupAAG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	39/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2677366	A A	AGAT AGAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02451.hp1 HG02886.hp1 others(1): Show HG01358.hp1 HG02451.hp1 HG02886.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0007 a0001c0001 a0001c0005 a0001c0007	a0001c0001t0005 a0001c0001t0015 a0001c0005t0026 others(1): Show a0001c0001t0005 a0001c0001t0015 a0001c0005t0026 a0001c0007t0005	a0001c0001t0005g0015 a0001c0001t0015g0034 a0001c0005t0026g0079 others(1): Show a0001c0001t0005g0015 a0001c0001t0015g0034 a0001c0005t0026g0079 a0001c0007t0005g0002	4	104	0.0385	3	c.495 others(20): Show c.4956+147_4956+149dupATG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	40/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1D_chr3_53489611_53818733	53491479	G G	GGCT GGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01361.hp2 NA20805.hp1 others(2): Show HG00735.hp1 HG01361.hp2 NA20805.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 a0001c0001 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 a0001c0006t0001	a0001c0001t0001g0136 a0001c0001t0004g0137 a0001c0004t0001g0134 others(2): Show a0001c0001t0001g0136 a0001c0001t0004g0137 a0001c0004t0001g0134 a0001c0006t0001g0133 a0001c0006t0001g0135	5	210	0.0238	3	c.-36 others(14): Show c.-3688_-3687insGCT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding		3131		chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53492760	C C	CAAA CAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG01884.hp1 HG02109.hp1 others(17): Show HG01496.hp1 HG01884.hp1 HG02109.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02723.hp2 HG02896.hp2 HG02897.hp2 HG02976.hp1 HG03139.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp2 HG03516.hp2 HG03579.hp1 HG06807.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0007 others(2): Show a0001c0001 a0001c0002 a0001c0007 a0001c0012 a0002c0016	a0001c0001t0001 a0001c0001t0032 a0001c0002t0006 others(10): Show a0001c0001t0001 a0001c0001t0032 a0001c0002t0006 a0001c0002t0010 a0001c0002t0027 a0001c0002t0028 a0001c0002t0030 a0001c0002t0034 a0001c0002t0060 a0001c0002t0063 a0001c0007t0031 a0001c0012t0027 a0002c0016t0059	a0001c0001t0001g0173 a0001c0001t0032g0206 a0001c0002t0006g0189 others(17): Show a0001c0001t0001g0173 a0001c0001t0032g0206 a0001c0002t0006g0189 a0001c0002t0006g0192 a0001c0002t0010g0138 a0001c0002t0010g0139 a0001c0002t0010g0190 a0001c0002t0010g0195 a0001c0002t0027g0186 a0001c0002t0028g0188 a0001c0002t0028g0198 a0001c0002t0030g0196 a0001c0002t0034g0183 a0001c0002t0034g0197 a0001c0002t0060g0144 a0001c0002t0063g0191 a0001c0007t0031g0187 a0001c0007t0031g0194 a0001c0012t0027g0193 a0002c0016t0059g0208	20	210	0.0952	3	c.-24 others(14): Show c.-2407_-2406insAAA	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding		1850		chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53500253	T T	TAAA TAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01175.hp2 HG01256.hp1 others(16): Show HG00099.hp1 HG01175.hp2 HG01256.hp1 HG01256.hp2 HG01928.hp1 HG02055.hp1 HG02071.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02683.hp1 HG03942.hp1 HG03942.hp2 HG04199.hp1 NA18747.hp1 NA18982.hp1 NA19004.hp1 NA19066.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008	a0001c0001t0002 a0001c0001t0003 a0001c0001t0022 others(9): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0022 a0001c0001t0045 a0001c0002t0025 a0001c0002t0034 a0001c0003t0002 a0001c0003t0003 a0001c0003t0023 a0001c0004t0002 a0001c0004t0008 a0001c0008t0005	a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0003g0049 others(16): Show a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0003g0049 a0001c0001t0003g0059 a0001c0001t0022g0056 a0001c0001t0022g0060 a0001c0001t0045g0063 a0001c0002t0025g0054 a0001c0002t0034g0183 a0001c0003t0002g0051 a0001c0003t0003g0053 a0001c0003t0003g0057 a0001c0003t0023g0046 a0001c0004t0002g0047 a0001c0004t0002g0050 a0001c0004t0002g0052 a0001c0004t0002g0055 a0001c0004t0008g0048 a0001c0008t0005g0058	19	210	0.0905	3	c.378 others(20): Show c.378-1335_378-1333dupAAA	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	2/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53507072	C C	CAAA CAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01175.hp1 HG02145.hp1 others(2): Show HG01081.hp2 HG01175.hp1 HG02145.hp1 HG02258.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0046 a0001c0002t0006 a0001c0003t0001 others(2): Show a0001c0001t0046 a0001c0002t0006 a0001c0003t0001 a0001c0004t0004 a0001c0005t0062	a0001c0001t0046g0119 a0001c0002t0006g0180 a0001c0003t0001g0146 others(2): Show a0001c0001t0046g0119 a0001c0002t0006g0180 a0001c0003t0001g0146 a0001c0004t0004g0147 a0001c0005t0062g0148	5	210	0.0238	3	c.483 others(20): Show c.483+5371_483+5373dupAAA	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	3/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53520895	T T	TTTC TTTC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02129.hp1 HG03139.hp2 others(2): Show HG01109.hp2 HG02129.hp1 HG03139.hp2 NA18906.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0012 a0001c0002t0018 a0001c0002t0065 others(1): Show a0001c0001t0012 a0001c0002t0018 a0001c0002t0065 a0001c0003t0001	a0001c0001t0012g0166 a0001c0002t0018g0029 a0001c0002t0018g0111 others(2): Show a0001c0001t0012g0166 a0001c0002t0018g0029 a0001c0002t0018g0111 a0001c0002t0065g0201 a0001c0003t0001g0167	5	210	0.0238	3	c.483 others(22): Show c.483+19177_483+19178insCTT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	3/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53520900	T T	TTTC TTTC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02258.hp2 HG02886.hp2 others(4): Show HG01109.hp2 HG02258.hp2 HG02886.hp2 HG03139.hp2 NA18906.hp1 NA18906.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0001t0068 a0001c0002t0018 others(3): Show a0001c0001t0012 a0001c0001t0068 a0001c0002t0018 a0001c0002t0036 a0001c0002t0055 a0001c0002t0065	a0001c0001t0012g0166 a0001c0001t0068g0001 a0001c0002t0018g0029 others(4): Show a0001c0001t0012g0166 a0001c0001t0068g0001 a0001c0002t0018g0029 a0001c0002t0018g0111 a0001c0002t0036g0033 a0001c0002t0055g0013 a0001c0002t0065g0201	7	210	0.0333	3	c.483 others(22): Show c.483+19182_483+19183insCTT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	3/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53536416	T T	TAAC TAAC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0138 a0001c0002t0010g0139 a0001c0002t0010g0138 a0001c0002t0010g0139	2	210	0.0095	3	c.483 others(22): Show c.483+34698_483+34700dupACA	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	3/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53538141	G G	GTTT GTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01978.hp2 HG02040.hp1 others(11): Show HG01109.hp2 HG01978.hp2 HG02040.hp1 HG02572.hp2 HG02809.hp1 HG02976.hp2 HG03017.hp2 HG03669.hp1 NA18747.hp1 NA18979.hp2 NA18986.hp1 NA19004.hp1 NA19056.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0008	a0001c0001t0001 a0001c0001t0012 a0001c0001t0029 others(10): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0029 a0001c0001t0033 a0001c0001t0072 a0001c0002t0027 a0001c0002t0065 a0001c0003t0058 a0001c0004t0002 a0001c0004t0004 a0001c0007t0030 a0001c0008t0007 a0001c0008t0009	a0001c0001t0001g0175 a0001c0001t0012g0166 a0001c0001t0029g0143 others(11): Show a0001c0001t0001g0175 a0001c0001t0012g0166 a0001c0001t0029g0143 a0001c0001t0033g0172 a0001c0001t0072g0007 a0001c0002t0027g0186 a0001c0002t0065g0201 a0001c0003t0058g0178 a0001c0004t0002g0052 a0001c0004t0002g0055 a0001c0004t0004g0036 a0001c0007t0030g0008 a0001c0008t0007g0017 a0001c0008t0009g0076	14	210	0.0667	3	c.483 others(22): Show c.483+36445_483+36447dupTTT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	3/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53555460	G G	GTTT GTTT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01496.hp1 HG01952.hp2 others(5): Show HG01071.hp1 HG01496.hp1 HG01952.hp2 HG02055.hp2 HG02486.hp2 HG02723.hp2 NA18994.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0023	a0001c0001t0001 a0001c0002t0006 a0001c0003t0004 others(4): Show a0001c0001t0001 a0001c0002t0006 a0001c0003t0004 a0001c0004t0011 a0001c0005t0009 a0001c0007t0066 a0001c0023t0077	a0001c0001t0001g0149 a0001c0001t0001g0173 a0001c0002t0006g0192 others(5): Show a0001c0001t0001g0149 a0001c0001t0001g0173 a0001c0002t0006g0192 a0001c0003t0004g0162 a0001c0004t0011g0145 a0001c0005t0009g0080 a0001c0007t0066g0199 a0001c0023t0077g0200	8	210	0.0381	3	c.483 others(22): Show c.483+53760_483+53762dupTTT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	3/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53555461	T T	TGTG TGTG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02572.hp2 HG02723.hp1 others(11): Show HG01109.hp2 HG02572.hp2 HG02723.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG03516.hp1 NA18522.hp2 NA18747.hp1 NA18974.hp1 NA18979.hp2 NA18986.hp1 NA19004.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0009 a0001c0021	a0001c0001t0001 a0001c0001t0029 a0001c0001t0033 others(10): Show a0001c0001t0001 a0001c0001t0029 a0001c0001t0033 a0001c0001t0046 a0001c0001t0057 a0001c0002t0006 a0001c0002t0007 a0001c0002t0054 a0001c0002t0065 a0001c0004t0002 a0001c0007t0030 a0001c0009t0029 a0001c0021t0035	a0001c0001t0001g0175 a0001c0001t0029g0143 a0001c0001t0033g0172 others(11): Show a0001c0001t0001g0175 a0001c0001t0029g0143 a0001c0001t0033g0172 a0001c0001t0046g0119 a0001c0001t0057g0179 a0001c0002t0006g0011 a0001c0002t0007g0006 a0001c0002t0054g0005 a0001c0002t0065g0201 a0001c0004t0002g0052 a0001c0004t0002g0055 a0001c0007t0030g0008 a0001c0009t0029g0185 a0001c0021t0035g0205	14	210	0.0667	3	c.483 others(22): Show c.483+53741_483+53742insGTG	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	3/48			chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53614126	C C	CAAA CAAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01175.hp2 others(21): Show HG01070.hp2 HG01071.hp2 HG01175.hp2 HG01884.hp1 HG02257.hp2 HG02258.hp2 HG02717.hp1 HG02723.hp2 HG02809.hp2 HG02965.hp2 HG03017.hp1 HG03041.hp2 HG03209.hp2 HG03453.hp1 HG03516.hp1 HG03688.hp2 HG04199.hp1 NA18522.hp1 NA18906.hp1 NA18983.hp2 NA19043.hp1 NA20129.hp1 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0009 a0001c0010 a0001c0012 a0001c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0068 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0068 a0001c0002t0006 a0001c0002t0007 a0001c0002t0013 a0001c0002t0015 a0001c0002t0018 a0001c0002t0027 a0001c0002t0028 a0001c0002t0030 a0001c0002t0036 a0001c0002t0054 a0001c0002t0060 a0001c0004t0008 a0001c0004t0011 a0001c0009t0076 a0001c0010t0038 a0001c0012t0006 a0001c0021t0035	a0001c0001t0001g0002 a0001c0001t0002g0061 a0001c0001t0068g0001 others(21): Show a0001c0001t0001g0002 a0001c0001t0002g0061 a0001c0001t0068g0001 a0001c0002t0006g0011 a0001c0002t0006g0189 a0001c0002t0006g0192 a0001c0002t0007g0006 a0001c0002t0007g0158 a0001c0002t0013g0044 a0001c0002t0015g0117 a0001c0002t0018g0029 a0001c0002t0027g0186 a0001c0002t0028g0198 a0001c0002t0030g0196 a0001c0002t0036g0202 a0001c0002t0054g0005 a0001c0002t0060g0144 a0001c0004t0008g0048 a0001c0004t0011g0153 a0001c0009t0076g0032 a0001c0010t0038g0019 a0001c0010t0038g0037 a0001c0012t0006g0132 a0001c0021t0035g0205	24	210	0.1143	3	c.484 others(22): Show c.484-36638_484-36636dupAAA	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	3/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53640995	T T	TGAA TGAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp2 HG01071.hp2 others(35): Show HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01109.hp2 HG01169.hp1 HG01175.hp1 HG01256.hp2 HG01496.hp2 HG01884.hp1 HG01891.hp1 HG02109.hp1 HG02258.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02809.hp2 HG02965.hp2 HG03041.hp1 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03516.hp1 HG03540.hp1 HG03669.hp2 HG06807.hp2 NA18906.hp1 NA19043.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0004 others(10): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0018 a0001c0021 a0001c0023 a0004c0020	a0001c0001t0003 a0001c0001t0004 a0001c0001t0014 others(28): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0014 a0001c0001t0017 a0001c0001t0022 a0001c0001t0045 a0001c0002t0006 a0001c0002t0007 a0001c0002t0009 a0001c0002t0013 a0001c0002t0018 a0001c0002t0019 a0001c0002t0028 a0001c0002t0030 a0001c0002t0034 a0001c0002t0054 a0001c0002t0065 a0001c0004t0004 a0001c0007t0030 a0001c0008t0035 a0001c0009t0017 a0001c0009t0029 a0001c0009t0056 a0001c0009t0076 a0001c0010t0038 a0001c0011t0026 a0001c0012t0006 a0001c0018t0001 a0001c0021t0035 a0001c0023t0077 a0004c0020t0004	a0001c0001t0003g0081 a0001c0001t0003g0084 a0001c0001t0003g0113 others(35): Show a0001c0001t0003g0081 a0001c0001t0003g0084 a0001c0001t0003g0113 a0001c0001t0003g0128 a0001c0001t0004g0137 a0001c0001t0014g0031 a0001c0001t0017g0110 a0001c0001t0022g0060 a0001c0001t0045g0063 a0001c0002t0006g0180 a0001c0002t0007g0006 a0001c0002t0009g0107 a0001c0002t0009g0210 a0001c0002t0013g0021 a0001c0002t0013g0044 a0001c0002t0018g0029 a0001c0002t0019g0115 a0001c0002t0028g0198 a0001c0002t0030g0196 a0001c0002t0034g0197 a0001c0002t0054g0005 a0001c0002t0065g0201 a0001c0004t0004g0147 a0001c0007t0030g0008 a0001c0008t0035g0010 a0001c0009t0017g0085 a0001c0009t0029g0185 a0001c0009t0056g0184 a0001c0009t0076g0032 a0001c0010t0038g0019 a0001c0010t0038g0037 a0001c0011t0026g0030 a0001c0011t0026g0116 a0001c0012t0006g0132 a0001c0018t0001g0177 a0001c0021t0035g0205 a0001c0023t0077g0200 a0004c0020t0004g0182	38	210	0.1810	3	c.484 others(20): Show c.484-9782_484-9780dupAAG	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	3/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53651366	C C	CTTT CTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00621.hp1 others(63): Show HG00140.hp1 HG00323.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00735.hp2 HG01256.hp1 HG01346.hp1 HG01496.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01952.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02258.hp2 HG02602.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02976.hp2 HG03017.hp2 HG03139.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03704.hp1 HG03942.hp2 HG04204.hp2 HG06807.hp1 NA18747.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18977.hp2 NA18982.hp2 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19012.hp2 NA19030.hp1 NA19056.hp1 NA19056.hp2 NA19066.hp1 NA19070.hp2 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0010 a0001c0014 a0003c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(42): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0029 a0001c0001t0032 a0001c0001t0033 a0001c0001t0043 a0001c0001t0045 a0001c0001t0047 a0001c0001t0068 a0001c0001t0072 a0001c0001t0073 a0001c0002t0005 a0001c0002t0007 a0001c0002t0018 a0001c0002t0019 a0001c0002t0028 a0001c0002t0036 a0001c0002t0053 a0001c0002t0064 a0001c0002t0069 a0001c0003t0001 a0001c0003t0002 a0001c0003t0049 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0004t0011 a0001c0004t0012 a0001c0004t0014 a0001c0004t0024 a0001c0005t0007 a0001c0006t0001 a0001c0006t0002 a0001c0007t0031 a0001c0008t0007 a0001c0008t0009 a0001c0010t0002 a0001c0014t0002 a0003c0019t0001	a0001c0001t0001g0015 a0001c0001t0001g0142 a0001c0001t0001g0149 others(63): Show a0001c0001t0001g0015 a0001c0001t0001g0142 a0001c0001t0001g0149 a0001c0001t0001g0173 a0001c0001t0002g0062 a0001c0001t0002g0109 a0001c0001t0002g0122 a0001c0001t0003g0096 a0001c0001t0004g0160 a0001c0001t0012g0166 a0001c0001t0012g0181 a0001c0001t0020g0087 a0001c0001t0021g0131 a0001c0001t0022g0056 a0001c0001t0029g0143 a0001c0001t0032g0012 a0001c0001t0032g0206 a0001c0001t0033g0018 a0001c0001t0033g0172 a0001c0001t0043g0083 a0001c0001t0045g0063 a0001c0001t0047g0066 a0001c0001t0068g0001 a0001c0001t0072g0007 a0001c0001t0073g0203 a0001c0002t0005g0071 a0001c0002t0005g0097 a0001c0002t0005g0103 a0001c0002t0005g0105 a0001c0002t0005g0123 a0001c0002t0005g0124 a0001c0002t0007g0035 a0001c0002t0018g0111 a0001c0002t0019g0126 a0001c0002t0028g0188 a0001c0002t0036g0033 a0001c0002t0053g0159 a0001c0002t0064g0042 a0001c0002t0069g0039 a0001c0003t0001g0157 a0001c0003t0001g0204 a0001c0003t0002g0065 a0001c0003t0002g0089 a0001c0003t0049g0068 a0001c0004t0001g0134 a0001c0004t0001g0154 a0001c0004t0001g0169 a0001c0004t0002g0050 a0001c0004t0002g0070 a0001c0004t0002g0078 a0001c0004t0002g0088 a0001c0004t0004g0036 a0001c0004t0011g0170 a0001c0004t0012g0171 a0001c0004t0014g0023 a0001c0004t0024g0090 a0001c0005t0007g0174 a0001c0006t0001g0151 a0001c0006t0002g0072 a0001c0006t0002g0100 a0001c0007t0031g0194 a0001c0008t0007g0017 a0001c0008t0009g0076 a0001c0010t0002g0092 a0001c0014t0002g0114 a0003c0019t0001g0016	66	210	0.3143	3	c.623 others(18): Show c.623+468_623+470dupTTT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	4/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53679270	C C	CAAA CAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01256.hp2 HG01516.hp1 others(15): Show HG01175.hp1 HG01256.hp2 HG01516.hp1 HG02040.hp2 HG02083.hp1 HG02145.hp1 HG02273.hp2 HG02698.hp1 HG03516.hp2 HG03669.hp2 HG04199.hp2 NA18906.hp1 NA18963.hp1 NA18979.hp1 NA19012.hp1 NA19070.hp1 NA19074.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0022 a0001c0001t0024 a0001c0001t0075 a0001c0002t0005 a0001c0002t0018 a0001c0002t0028 a0001c0003t0001 a0001c0003t0004 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0004t0008	a0001c0001t0001g0156 a0001c0001t0002g0099 a0001c0001t0003g0081 others(15): Show a0001c0001t0001g0156 a0001c0001t0002g0099 a0001c0001t0003g0081 a0001c0001t0003g0084 a0001c0001t0022g0060 a0001c0001t0024g0069 a0001c0001t0075g0009 a0001c0002t0005g0097 a0001c0002t0018g0029 a0001c0002t0028g0188 a0001c0003t0001g0146 a0001c0003t0001g0168 a0001c0003t0004g0155 a0001c0004t0001g0150 a0001c0004t0001g0152 a0001c0004t0002g0070 a0001c0004t0004g0147 a0001c0004t0008g0082	18	210	0.0857	3	c.122 others(22): Show c.1220+5489_1220+5491dupAAA	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	8/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53696941	C C	CAGT CAGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(135): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01109.hp1 HG01109.hp2 HG01169.hp1 HG01175.hp1 HG01256.hp1 HG01256.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18974.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18994.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19066.hp1 NA19070.hp2 NA19074.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(18): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0018 a0001c0023 a0001c0024 a0001c0025 a0002c0016 a0003c0019 a0004c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(79): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0014 a0001c0001t0017 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0032 a0001c0001t0033 a0001c0001t0043 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0057 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0009 a0001c0002t0010 a0001c0002t0013 a0001c0002t0015 a0001c0002t0016 a0001c0002t0019 a0001c0002t0025 a0001c0002t0034 a0001c0002t0036 a0001c0002t0053 a0001c0002t0063 a0001c0002t0064 a0001c0002t0065 a0001c0002t0070 a0001c0002t0082 a0001c0002t0083 a0001c0003t0001 a0001c0003t0002 a0001c0003t0037 a0001c0003t0049 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0004t0008 a0001c0004t0011 a0001c0004t0012 a0001c0004t0014 a0001c0004t0024 a0001c0004t0039 a0001c0005t0007 a0001c0006t0001 a0001c0006t0002 a0001c0007t0031 a0001c0007t0066 a0001c0008t0007 a0001c0008t0009 a0001c0008t0035 a0001c0009t0017 a0001c0009t0029 a0001c0009t0056 a0001c0009t0076 a0001c0010t0002 a0001c0010t0038 a0001c0011t0026 a0001c0012t0006 a0001c0013t0042 a0001c0013t0050 a0001c0014t0002 a0001c0018t0001 a0001c0023t0077 a0001c0024t0079 a0001c0025t0080 a0002c0016t0059 a0003c0019t0001 a0004c0020t0004	a0001c0001t0001g0015 a0001c0001t0001g0136 a0001c0001t0001g0142 others(135): Show a0001c0001t0001g0015 a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0149 a0001c0001t0001g0156 a0001c0001t0001g0173 a0001c0001t0002g0062 a0001c0001t0002g0064 a0001c0001t0002g0091 a0001c0001t0002g0109 a0001c0001t0002g0122 a0001c0001t0003g0049 a0001c0001t0003g0059 a0001c0001t0003g0081 a0001c0001t0003g0084 a0001c0001t0003g0096 a0001c0001t0003g0113 a0001c0001t0003g0128 a0001c0001t0004g0137 a0001c0001t0004g0160 a0001c0001t0004g0207 a0001c0001t0012g0166 a0001c0001t0012g0181 a0001c0001t0014g0031 a0001c0001t0017g0110 a0001c0001t0020g0075 a0001c0001t0020g0087 a0001c0001t0021g0130 a0001c0001t0021g0131 a0001c0001t0022g0056 a0001c0001t0022g0060 a0001c0001t0024g0069 a0001c0001t0032g0012 a0001c0001t0032g0206 a0001c0001t0033g0018 a0001c0001t0033g0172 a0001c0001t0043g0083 a0001c0001t0045g0063 a0001c0001t0046g0119 a0001c0001t0047g0066 a0001c0001t0057g0179 a0001c0001t0071g0034 a0001c0001t0072g0007 a0001c0001t0073g0203 a0001c0001t0074g0004 a0001c0001t0075g0009 a0001c0002t0005g0071 a0001c0002t0005g0097 a0001c0002t0005g0098 a0001c0002t0005g0103 a0001c0002t0005g0105 a0001c0002t0005g0123 a0001c0002t0005g0124 a0001c0002t0006g0011 a0001c0002t0006g0180 a0001c0002t0006g0189 a0001c0002t0006g0192 a0001c0002t0007g0035 a0001c0002t0009g0107 a0001c0002t0009g0210 a0001c0002t0010g0138 a0001c0002t0010g0139 a0001c0002t0010g0190 a0001c0002t0010g0195 a0001c0002t0013g0003 a0001c0002t0013g0021 a0001c0002t0013g0044 a0001c0002t0015g0117 a0001c0002t0016g0129 a0001c0002t0019g0115 a0001c0002t0025g0067 a0001c0002t0034g0183 a0001c0002t0034g0197 a0001c0002t0036g0202 a0001c0002t0053g0159 a0001c0002t0063g0191 a0001c0002t0064g0042 a0001c0002t0065g0201 a0001c0002t0070g0043 a0001c0002t0082g0024 a0001c0002t0083g0209 a0001c0003t0001g0157 a0001c0003t0001g0204 a0001c0003t0002g0065 a0001c0003t0037g0020 a0001c0003t0037g0038 a0001c0003t0049g0068 a0001c0004t0001g0134 a0001c0004t0001g0150 a0001c0004t0001g0152 a0001c0004t0001g0154 a0001c0004t0001g0169 a0001c0004t0002g0050 a0001c0004t0002g0070 a0001c0004t0002g0078 a0001c0004t0002g0088 a0001c0004t0003g0079 a0001c0004t0004g0036 a0001c0004t0004g0147 a0001c0004t0008g0048 a0001c0004t0008g0082 a0001c0004t0008g0101 a0001c0004t0011g0145 a0001c0004t0011g0153 a0001c0004t0011g0170 a0001c0004t0012g0171 a0001c0004t0014g0023 a0001c0004t0024g0090 a0001c0004t0039g0028 a0001c0005t0007g0174 a0001c0006t0001g0151 a0001c0006t0002g0072 a0001c0006t0002g0100 a0001c0007t0031g0187 a0001c0007t0031g0194 a0001c0007t0066g0199 a0001c0008t0007g0017 a0001c0008t0009g0076 a0001c0008t0035g0010 a0001c0009t0017g0085 a0001c0009t0029g0185 a0001c0009t0056g0184 a0001c0009t0076g0032 a0001c0010t0002g0092 a0001c0010t0038g0019 a0001c0010t0038g0037 a0001c0011t0026g0116 a0001c0012t0006g0132 a0001c0013t0042g0102 a0001c0013t0050g0095 a0001c0014t0002g0114 a0001c0018t0001g0177 a0001c0023t0077g0200 a0001c0024t0079g0040 a0001c0025t0080g0041 a0002c0016t0059g0208 a0003c0019t0001g0016 a0004c0020t0004g0182	138	210	0.6571	3	c.122 others(22): Show c.1221-5698_1221-5697insTAG	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	8/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53701124	T T	TTTG TTTG	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02083.hp2 NA18747.hp1 others(3): Show HG02071.hp2 HG02083.hp2 NA18747.hp1 NA18979.hp2 NA19004.hp1 NA19066.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0005c0015	a0001c0001t0001 a0001c0002t0025 a0001c0004t0002 others(1): Show a0001c0001t0001 a0001c0002t0025 a0001c0004t0002 a0005c0015t0001	a0001c0001t0001g0175 a0001c0002t0025g0054 a0001c0004t0002g0047 others(3): Show a0001c0001t0001g0175 a0001c0002t0025g0054 a0001c0004t0002g0047 a0001c0004t0002g0052 a0001c0004t0002g0055 a0005c0015t0001g0141	6	210	0.0286	3	c.122 others(22): Show c.1221-1505_1221-1503dupGTT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	8/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53701136	G G	GTTA GTTA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp2 HG02572.hp2 others(2): Show HG01884.hp1 HG02145.hp2 HG02572.hp2 HG03516.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0001c0021	a0001c0001t0067 a0001c0002t0018 a0001c0002t0030 others(2): Show a0001c0001t0067 a0001c0002t0018 a0001c0002t0030 a0001c0007t0030 a0001c0021t0035	a0001c0001t0067g0045 a0001c0002t0018g0029 a0001c0002t0030g0196 others(2): Show a0001c0001t0067g0045 a0001c0002t0018g0029 a0001c0002t0030g0196 a0001c0007t0030g0008 a0001c0021t0035g0205	5	210	0.0238	3	c.122 others(22): Show c.1221-1487_1221-1485dupATT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	8/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53711185	T T	TGCA TGCA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01109.hp2 HG01891.hp2 others(3): Show HG01074.hp2 HG01109.hp2 HG01891.hp2 HG02572.hp1 NA19043.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0041 a0001c0002t0019 a0001c0002t0028 others(3): Show a0001c0001t0041 a0001c0002t0019 a0001c0002t0028 a0001c0002t0034 a0001c0002t0054 a0001c0002t0065	a0001c0001t0041g0125 a0001c0002t0019g0126 a0001c0002t0028g0198 others(3): Show a0001c0001t0041g0125 a0001c0002t0019g0126 a0001c0002t0028g0198 a0001c0002t0034g0183 a0001c0002t0054g0005 a0001c0002t0065g0201	6	210	0.0286	3	c.139 others(22): Show c.1391-7114_1391-7112dupCAG	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	9/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53812917	T T	TGAA TGAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(82): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01109.hp1 HG01175.hp2 HG01346.hp2 HG01361.hp2 HG01496.hp1 HG01516.hp2 HG01934.hp2 HG01952.hp2 HG01978.hp2 HG02027.hp1 HG02027.hp2 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02486.hp1 HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02735.hp2 HG02922.hp1 HG03017.hp1 HG03579.hp2 HG03688.hp1 HG03704.hp1 HG03942.hp1 HG03942.hp2 HG04199.hp2 HG04204.hp2 NA18747.hp1 NA18747.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18974.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18994.hp2 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19056.hp1 NA19056.hp2 NA19066.hp1 NA19070.hp1 NA19074.hp1 NA20752.hp1 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0003 a0001c0004 others(8): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0010 a0001c0013 a0001c0014 a0001c0018 a0001c0022 a0003c0019 a0005c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(39): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0014 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0033 a0001c0001t0043 a0001c0001t0045 a0001c0001t0047 a0001c0001t0048 a0001c0001t0057 a0001c0001t0067 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0003t0001 a0001c0003t0002 a0001c0003t0014 a0001c0003t0023 a0001c0003t0039 a0001c0003t0044 a0001c0003t0049 a0001c0003t0052 a0001c0003t0058 a0001c0004t0001 a0001c0004t0002 a0001c0004t0012 a0001c0004t0014 a0001c0004t0024 a0001c0004t0039 a0001c0006t0001 a0001c0006t0002 a0001c0010t0002 a0001c0010t0038 a0001c0013t0050 a0001c0014t0002 a0001c0018t0001 a0001c0022t0001 a0003c0019t0001 a0005c0015t0001	a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0136 others(82): Show a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0149 a0001c0001t0001g0156 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0064 a0001c0001t0002g0091 a0001c0001t0002g0099 a0001c0001t0002g0109 a0001c0001t0002g0122 a0001c0001t0012g0166 a0001c0001t0012g0181 a0001c0001t0014g0031 a0001c0001t0020g0075 a0001c0001t0020g0087 a0001c0001t0021g0130 a0001c0001t0021g0131 a0001c0001t0024g0069 a0001c0001t0033g0018 a0001c0001t0033g0172 a0001c0001t0043g0083 a0001c0001t0045g0063 a0001c0001t0047g0066 a0001c0001t0048g0086 a0001c0001t0057g0179 a0001c0001t0067g0045 a0001c0001t0073g0203 a0001c0001t0074g0004 a0001c0001t0075g0009 a0001c0003t0001g0140 a0001c0003t0001g0146 a0001c0003t0001g0157 a0001c0003t0001g0161 a0001c0003t0001g0164 a0001c0003t0001g0167 a0001c0003t0001g0168 a0001c0003t0001g0204 a0001c0003t0002g0051 a0001c0003t0002g0065 a0001c0003t0002g0089 a0001c0003t0002g0093 a0001c0003t0002g0104 a0001c0003t0014g0022 a0001c0003t0023g0046 a0001c0003t0023g0118 a0001c0003t0039g0025 a0001c0003t0044g0077 a0001c0003t0049g0068 a0001c0003t0052g0120 a0001c0003t0058g0178 a0001c0004t0001g0134 a0001c0004t0001g0150 a0001c0004t0001g0152 a0001c0004t0001g0154 a0001c0004t0001g0169 a0001c0004t0002g0047 a0001c0004t0002g0050 a0001c0004t0002g0052 a0001c0004t0002g0055 a0001c0004t0002g0070 a0001c0004t0002g0078 a0001c0004t0002g0088 a0001c0004t0012g0171 a0001c0004t0014g0023 a0001c0004t0024g0090 a0001c0004t0039g0028 a0001c0006t0001g0133 a0001c0006t0001g0135 a0001c0006t0001g0151 a0001c0006t0002g0072 a0001c0006t0002g0100 a0001c0010t0002g0092 a0001c0010t0038g0019 a0001c0010t0038g0037 a0001c0013t0050g0095 a0001c0014t0002g0114 a0001c0018t0001g0177 a0001c0022t0001g0165 a0003c0019t0001g0016 a0005c0015t0001g0141	85	210	0.4048	3	c.15 others(14): Show c.1513_*1515dupAAG	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	49/49	1516	INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53814985	A A	AGAT AGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02897.hp1 HG02717.hp1 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0069 a0001c0002t0013 a0001c0002t0069	a0001c0002t0013g0044 a0001c0002t0069g0039 a0001c0002t0013g0044 a0001c0002t0069g0039	2	210	0.0095	3	c.35 others(14): Show c.3579_*3580insGAT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding		1253		chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53816131	A A	ACCC ACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 HG02258.hp1 HG02717.hp1 others(9): Show HG02132.hp1 HG02258.hp1 HG02717.hp1 HG02723.hp2 HG02897.hp1 HG02965.hp1 HG03041.hp1 HG03041.hp2 HG03209.hp2 HG03453.hp2 NA19002.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0021 a0001c0002t0005 a0001c0002t0006 others(4): Show a0001c0001t0021 a0001c0002t0005 a0001c0002t0006 a0001c0002t0009 a0001c0002t0013 a0001c0002t0069 a0001c0009t0076	a0001c0001t0021g0131 a0001c0002t0005g0103 a0001c0002t0006g0011 others(9): Show a0001c0001t0021g0131 a0001c0002t0005g0103 a0001c0002t0006g0011 a0001c0002t0006g0180 a0001c0002t0006g0189 a0001c0002t0006g0192 a0001c0002t0009g0210 a0001c0002t0013g0003 a0001c0002t0013g0021 a0001c0002t0013g0044 a0001c0002t0069g0039 a0001c0009t0076g0032	12	210	0.0571	3	c.47 others(14): Show c.4725_*4726insCCC	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding		2399		chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53818623	G G	GACA GACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02132.hp1 HG02027.hp2 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0130 a0001c0001t0021g0131 a0001c0001t0021g0130 a0001c0001t0021g0131	2	210	0.0095	3	c.72 others(14): Show c.7217_*7218insACA	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding		4891		chr3	TogoVar
CACNA1E_chr1_181478517_181813084	181490543	G G	GTTT GTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp2 HG01099.hp1 others(3): Show HG00280.hp1 HG00597.hp2 HG01099.hp1 HG02293.hp2 HG02630.hp2 HG04115.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0015 a0002c0002 a0003c0003 a0001c0015 a0002c0002 a0003c0003	a0001c0015t0047 a0002c0002t0001 a0002c0002t0003 others(1): Show a0001c0015t0047 a0002c0002t0001 a0002c0002t0003 a0003c0003t0001	a0001c0015t0047g0027 a0002c0002t0001g0022 a0002c0002t0001g0023 others(3): Show a0001c0015t0047g0027 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0003g0051 a0003c0003t0001g0033 a0003c0003t0001g0096	6	206	0.0291	3	c.266 others(20): Show c.266+6549_266+6551dupTTT	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	1/47		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1E_chr1_181478517_181813084	181575024	C C	CAAA CAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00639.hp1 HG01891.hp2 others(3): Show HG00408.hp2 HG00639.hp1 HG01891.hp2 HG02615.hp1 HG02965.hp1 HG03139.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0005 a0001c0006 a0002c0002 others(1): Show a0001c0005 a0001c0006 a0002c0002 a0003c0010	a0001c0005t0018 a0001c0005t0030 a0001c0006t0004 others(2): Show a0001c0005t0018 a0001c0005t0030 a0001c0006t0004 a0002c0002t0002 a0003c0010t0002	a0001c0005t0018g0061 a0001c0005t0030g0150 a0001c0005t0030g0178 others(3): Show a0001c0005t0018g0061 a0001c0005t0030g0150 a0001c0005t0030g0178 a0001c0006t0004g0102 a0002c0002t0002g0155 a0003c0010t0002g0035	6	206	0.0291	3	c.513 others(20): Show c.513-2731_513-2729dupAAA	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1E_chr1_181478517_181813084	181590410	A A	ATAT ATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp1 HG06807.hp1 others(1): Show HG00323.hp1 HG00642.hp1 HG06807.hp1 NA20752.hp2	a0001 a0009 a0001 a0009	a0001c0004 a0009c0021 a0001c0004 a0009c0021	a0001c0004t0002 a0009c0021t0002 a0001c0004t0002 a0009c0021t0002	a0001c0004t0002g0101 a0001c0004t0002g0160 a0001c0004t0002g0199 others(1): Show a0001c0004t0002g0101 a0001c0004t0002g0160 a0001c0004t0002g0199 a0009c0021t0002g0098	4	206	0.0194	3	c.951 others(20): Show c.951+9634_951+9635insTAT	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	6/47			chr1	TogoVar
CACNA1E_chr1_181478517_181813084	181590416	A A	ATAT ATAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA18906.hp1 NA19240.hp2 HG02976.hp2 NA18906.hp1 NA19240.hp2	a0001 a0001	a0001c0008 a0001c0024 a0001c0008 a0001c0024	a0001c0008t0008 a0001c0008t0051 a0001c0024t0067 a0001c0008t0008 a0001c0008t0051 a0001c0024t0067	a0001c0008t0008g0164 a0001c0008t0051g0165 a0001c0024t0067g0004 a0001c0008t0008g0164 a0001c0008t0051g0165 a0001c0024t0067g0004	3	206	0.0146	3	c.951 others(20): Show c.951+9640_951+9641insTAT	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	6/47			chr1	TogoVar
CACNA1E_chr1_181478517_181813084	181641714	T T	TTTG TTTG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01175.hp1 HG01175.hp2 others(8): Show HG00741.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG02523.hp1 HG02523.hp2 HG02886.hp2 HG03195.hp1 HG03834.hp1 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0008 others(2): Show a0001c0001 a0001c0006 a0001c0008 a0001c0011 a0002c0002	a0001c0001t0004 a0001c0001t0016 a0001c0001t0039 others(8): Show a0001c0001t0004 a0001c0001t0016 a0001c0001t0039 a0001c0001t0048 a0001c0006t0075 a0001c0008t0051 a0001c0011t0004 a0002c0002t0003 a0002c0002t0007 a0002c0002t0015 a0002c0002t0035	a0001c0001t0004g0078 a0001c0001t0016g0181 a0001c0001t0039g0093 others(8): Show a0001c0001t0004g0078 a0001c0001t0016g0181 a0001c0001t0039g0093 a0001c0001t0048g0054 a0001c0006t0075g0064 a0001c0008t0051g0165 a0001c0011t0004g0091 a0002c0002t0003g0159 a0002c0002t0007g0069 a0002c0002t0015g0108 a0002c0002t0035g0145	11	206	0.0534	3	c.952 others(20): Show c.952-9622_952-9621insGTT	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	6/47		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1E_chr1_181478517_181813084	181751252	C C	CATT CATT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00609.hp1 HG00642.hp1 others(65): Show HG00323.hp1 HG00609.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01192.hp2 HG01258.hp2 HG01261.hp2 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp2 HG02071.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02602.hp1 HG02698.hp1 HG02723.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02965.hp1 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03239.hp2 HG03471.hp2 HG03492.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp2 HG04115.hp1 HG04199.hp1 HG06807.hp1 NA18906.hp1 NA18972.hp1 NA18983.hp1 NA18988.hp1 NA19003.hp1 NA19003.hp2 NA19043.hp1 NA19082.hp1 NA19085.hp1 NA19240.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0009 a0011 a0012	a0001c0004 a0001c0005 a0001c0008 others(15): Show a0001c0004 a0001c0005 a0001c0008 a0001c0009 a0001c0011 a0001c0015 a0001c0020 a0001c0022 a0001c0026 a0001c0032 a0002c0029 a0003c0003 a0003c0010 a0003c0014 a0004c0007 a0009c0021 a0011c0017 a0012c0016	a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 others(37): Show a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0004t0008 a0001c0004t0016 a0001c0004t0031 a0001c0004t0045 a0001c0004t0054 a0001c0005t0032 a0001c0008t0008 a0001c0008t0051 a0001c0009t0018 a0001c0009t0040 a0001c0009t0078 a0001c0011t0004 a0001c0015t0047 a0001c0020t0031 a0001c0022t0056 a0001c0026t0042 a0001c0032t0062 a0002c0029t0001 a0003c0003t0001 a0003c0003t0003 a0003c0003t0004 a0003c0003t0005 a0003c0003t0010 a0003c0003t0014 a0003c0003t0022 a0003c0003t0023 a0003c0003t0060 a0003c0003t0061 a0003c0003t0072 a0003c0010t0002 a0003c0014t0069 a0004c0007t0001 a0004c0007t0023 a0004c0007t0046 a0009c0021t0002 a0011c0017t0001 a0012c0016t0055	a0001c0004t0001g0186 a0001c0004t0002g0071 a0001c0004t0002g0101 others(65): Show a0001c0004t0001g0186 a0001c0004t0002g0071 a0001c0004t0002g0101 a0001c0004t0002g0160 a0001c0004t0002g0199 a0001c0004t0004g0072 a0001c0004t0004g0137 a0001c0004t0004g0185 a0001c0004t0008g0032 a0001c0004t0008g0122 a0001c0004t0016g0198 a0001c0004t0031g0095 a0001c0004t0045g0047 a0001c0004t0054g0018 a0001c0005t0032g0029 a0001c0005t0032g0099 a0001c0008t0008g0030 a0001c0008t0008g0039 a0001c0008t0008g0164 a0001c0008t0051g0165 a0001c0009t0018g0041 a0001c0009t0040g0141 a0001c0009t0078g0040 a0001c0011t0004g0091 a0001c0011t0004g0206 a0001c0015t0047g0027 a0001c0020t0031g0074 a0001c0022t0056g0176 a0001c0026t0042g0025 a0001c0032t0062g0073 a0002c0029t0001g0153 a0003c0003t0001g0009 a0003c0003t0001g0012 a0003c0003t0001g0033 a0003c0003t0001g0076 a0003c0003t0001g0096 a0003c0003t0001g0106 a0003c0003t0001g0119 a0003c0003t0001g0120 a0003c0003t0001g0147 a0003c0003t0001g0149 a0003c0003t0001g0200 a0003c0003t0003g0103 a0003c0003t0004g0124 a0003c0003t0005g0083 a0003c0003t0005g0152 a0003c0003t0005g0170 a0003c0003t0005g0180 a0003c0003t0005g0190 a0003c0003t0005g0192 a0003c0003t0010g0127 a0003c0003t0014g0082 a0003c0003t0022g0177 a0003c0003t0022g0193 a0003c0003t0023g0182 a0003c0003t0060g0079 a0003c0003t0061g0059 a0003c0003t0072g0066 a0003c0010t0002g0035 a0003c0010t0002g0113 a0003c0014t0069g0196 a0004c0007t0001g0016 a0004c0007t0001g0171 a0004c0007t0023g0011 a0004c0007t0046g0007 a0009c0021t0002g0098 a0011c0017t0001g0020 a0012c0016t0055g0156	68	206	0.3301	3	c.373 others(20): Show c.3731+766_3731+768dupATT	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1E_chr1_181478517_181813084	181790307	T T	TTTA TTTA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00642.hp2 HG00673.hp1 others(36): Show HG00609.hp1 HG00642.hp2 HG00673.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01123.hp1 HG01258.hp2 HG01261.hp2 HG01496.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02602.hp1 HG02717.hp2 HG02886.hp1 HG02922.hp1 HG02976.hp2 HG03017.hp1 HG03239.hp2 HG03492.hp1 HG03669.hp1 HG03688.hp2 HG03710.hp1 HG03834.hp2 HG04115.hp1 HG04199.hp1 NA18972.hp1 NA18983.hp1 NA18988.hp1 NA19003.hp2 NA19082.hp1 NA19085.hp1	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0005 a0007 a0011	a0001c0001 a0001c0005 a0001c0009 others(7): Show a0001c0001 a0001c0005 a0001c0009 a0001c0015 a0001c0024 a0003c0003 a0004c0007 a0005c0027 a0007c0019 a0011c0017	a0001c0001t0052 a0001c0001t0059 a0001c0005t0018 others(19): Show a0001c0001t0052 a0001c0001t0059 a0001c0005t0018 a0001c0009t0040 a0001c0015t0047 a0001c0024t0067 a0003c0003t0001 a0003c0003t0003 a0003c0003t0004 a0003c0003t0005 a0003c0003t0014 a0003c0003t0022 a0003c0003t0023 a0003c0003t0060 a0003c0003t0061 a0003c0003t0072 a0004c0007t0001 a0004c0007t0023 a0004c0007t0046 a0005c0027t0027 a0007c0019t0041 a0011c0017t0001	a0001c0001t0052g0081 a0001c0001t0059g0107 a0001c0005t0018g0061 others(36): Show a0001c0001t0052g0081 a0001c0001t0059g0107 a0001c0005t0018g0061 a0001c0009t0040g0141 a0001c0015t0047g0027 a0001c0024t0067g0004 a0003c0003t0001g0009 a0003c0003t0001g0012 a0003c0003t0001g0033 a0003c0003t0001g0076 a0003c0003t0001g0096 a0003c0003t0001g0106 a0003c0003t0001g0119 a0003c0003t0001g0120 a0003c0003t0001g0147 a0003c0003t0001g0149 a0003c0003t0001g0200 a0003c0003t0003g0103 a0003c0003t0004g0124 a0003c0003t0005g0083 a0003c0003t0005g0152 a0003c0003t0005g0170 a0003c0003t0005g0180 a0003c0003t0005g0190 a0003c0003t0005g0192 a0003c0003t0014g0082 a0003c0003t0022g0177 a0003c0003t0022g0193 a0003c0003t0023g0182 a0003c0003t0060g0079 a0003c0003t0061g0059 a0003c0003t0072g0066 a0004c0007t0001g0016 a0004c0007t0001g0171 a0004c0007t0023g0011 a0004c0007t0046g0007 a0005c0027t0027g0174 a0007c0019t0041g0116 a0011c0017t0001g0020	39	206	0.1893	3	c.578 others(20): Show c.5787-138_5787-137insTTA	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	43/47			chr1	TogoVar
CACNA1F_chrX_49200063_49238340	49202891	A A	ATTT ATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00438.hp1 others(22): Show HG00140.hp1 HG00408.hp1 HG00438.hp1 HG00639.hp2 HG00735.hp2 HG00741.hp1 HG01099.hp1 HG01106.hp1 HG01516.hp1 HG01993.hp1 HG02735.hp1 HG02818.hp2 HG03017.hp1 HG03579.hp1 HG03669.hp2 HG03927.hp1 HG04228.hp1 NA18941.hp1 NA18953.hp1 NA18977.hp1 NA19000.hp1 NA19068.hp1 NA19077.hp2 NA19086.hp1 NA21309.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0002 a0002c0003 a0009c0013 a0001c0002 a0002c0003 a0009c0013	a0001c0002t0001 a0002c0003t0001 a0009c0013t0001 a0001c0002t0001 a0002c0003t0001 a0009c0013t0001	a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0008 others(17): Show a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0008 a0001c0002t0001g0015 a0001c0002t0001g0022 a0001c0002t0001g0070 a0001c0002t0001g0074 a0001c0002t0001g0090 a0001c0002t0001g0095 a0001c0002t0001g0174 a0001c0002t0001g0175 a0002c0003t0001g0003 a0002c0003t0001g0009 a0002c0003t0001g0014 a0002c0003t0001g0017 a0002c0003t0001g0026 a0002c0003t0001g0101 a0002c0003t0001g0104 a0002c0003t0001g0109 a0009c0013t0001g0077	25	290	0.0862	3	c.22 others(14): Show c.2245_*2246insAAA	CACNA1F	ENSG00000102001.13	transcript	ENST00000323022.10	protein_coding		2171		chrX	TogoVar
CACNA1F_chrX_49200063_49238340	49206392	C C	CAAA CAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01934.hp1 HG02109.hp2 others(11): Show HG01884.hp2 HG01934.hp1 HG02109.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02622.hp2 HG02723.hp2 HG02965.hp1 HG03209.hp1 HG03516.hp1 HG03540.hp1 NA18906.hp1 NA19043.hp1	a0003 a0004 a0003 a0004	a0003c0004 a0004c0005 a0003c0004 a0004c0005	a0003c0004t0001 a0004c0005t0001 a0003c0004t0001 a0004c0005t0001	a0003c0004t0001g0036 a0003c0004t0001g0037 a0003c0004t0001g0163 others(7): Show a0003c0004t0001g0036 a0003c0004t0001g0037 a0003c0004t0001g0163 a0003c0004t0001g0164 a0003c0004t0001g0170 a0003c0004t0001g0171 a0003c0004t0001g0172 a0004c0005t0001g0013 a0004c0005t0001g0052 a0004c0005t0001g0054	14	290	0.0483	3	c.547 others(20): Show c.5472+116_5472+118dupTTT	CACNA1F	ENSG00000102001.13	transcript	ENST00000323022.10	protein_coding	46/47			chrX	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)