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
CACNA1A_chr19_13201442_13511479	13510035	A A	AAGGAAGG others(21): Show AAGGAAGGAAGGAAGGAAGGAAGGGAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 NA18747.hp2 NA18964.hp1 others(1): Show HG02040.hp1 NA18747.hp2 NA18964.hp1 NA19043.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0020	a0001c0005 a0002c0002 a0003c0015 others(1): Show a0001c0005 a0002c0002 a0003c0015 a0020c0074	a0001c0005t0001 a0002c0002t0002 a0003c0015t0002 others(1): Show a0001c0005t0001 a0002c0002t0002 a0003c0015t0002 a0020c0074t0012	a0001c0005t0001g0187 a0002c0002t0002g0095 a0003c0015t0002g0167 others(1): Show a0001c0005t0001g0187 a0002c0002t0002g0095 a0003c0015t0002g0167 a0020c0074t0012g0161	4	218	0.0184	28	c.-38 others(39): Show c.-3812_-3811insCCCTCCCTTCCTTCCTTCCTTCCTTCCT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding		3557		chr19	TogoVar
CACNA1B_chr9_137872782_138129619	137954856	T T	TTGTGTGT others(21): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0020 a0002c0001t0020	a0002c0001t0020g0030 a0002c0001t0020g0030	1	248	0.0040	28	c.107 others(45): Show c.1071-818_1071-817insTGTGTGTGTGTGTGTGTGTGTGTGTGTG	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	7/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	138094457	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAAAAAAAAGAAG	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG04199.hp1 NA19043.hp2 others(1): Show HG02015.hp2 HG04199.hp1 NA19043.hp2 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0032 a0001c0053 others(1): Show a0001c0002 a0001c0032 a0001c0053 a0002c0004	a0001c0002t0001 a0001c0032t0001 a0001c0053t0028 others(1): Show a0001c0002t0001 a0001c0032t0001 a0001c0053t0028 a0002c0004t0001	a0001c0002t0001g0072 a0001c0032t0001g0071 a0001c0053t0028g0105 others(1): Show a0001c0002t0001g0072 a0001c0032t0001g0071 a0001c0053t0028g0105 a0002c0004t0001g0201	4	248	0.0161	28	c.509 others(47): Show c.5095-2025_5095-2024insAAAAAAAAAAAAAAAAAAAAAAGAAG AA	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	36/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1C_chr12_2047987_2702950	2071172	C C	CCCTCCCT others(21): Show CCCTCCCTCCCTCCCTCCCTTCCTGCCTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02040.hp1 HG02451.hp1 others(3): Show HG01891.hp2 HG02040.hp1 HG02451.hp1 HG03516.hp2 NA18906.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0003t0002 a0001c0003t0037 others(3): Show a0001c0001t0001 a0001c0003t0002 a0001c0003t0037 a0001c0004t0023 a0001c0005t0002 a0001c0005t0026	a0001c0001t0001g0029 a0001c0003t0002g0045 a0001c0003t0037g0003 others(3): Show a0001c0001t0001g0029 a0001c0003t0002g0045 a0001c0003t0037g0003 a0001c0004t0023g0028 a0001c0005t0002g0090 a0001c0005t0026g0079	6	104	0.0577	28	c.49+ others(45): Show c.49+17564_49+17565insCCCTCCCTCCCTCCCTTCCTGCCTGCCT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2071172	C C	CCCTCCCT others(21): Show CCCTCCCTCCCTTCCTGCCTGCCTGCCTG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0101 a0001c0001t0017g0101	1	104	0.0096	28	c.49+ others(45): Show c.49+17564_49+17565insCCCTCCCTTCCTGCCTGCCTGCCTGCCT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2071172	C C	CCCTGCCT others(21): Show CCCTGCCTGCCTGCCTGCCTGCCTGCCTG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0033 a0001c0008t0033	a0001c0008t0033g0051 a0001c0008t0033g0051	1	104	0.0096	28	c.49+ others(45): Show c.49+17573_49+17600dupGCCTGCCTGCCTGCCTGCCTGCCTGCCT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2378779	G G	GTCCTTCC others(21): Show GTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp2 HG03486.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0036 a0001c0001 a0001c0036	a0001c0001t0004 a0001c0036t0007 a0001c0001t0004 a0001c0036t0007	a0001c0001t0004g0005 a0001c0036t0007g0100 a0001c0001t0004g0005 a0001c0036t0007g0100	2	104	0.0192	28	c.478 others(47): Show c.478-70184_478-70157dupTCCTTCCTTCCTTCCTTCCTTCCTTC CT	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(21): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02809.hp1 HG03098.hp1 HG02055.hp2 HG02809.hp1 HG03098.hp1	a0001 a0001	a0001c0015 a0001c0018 a0001c0021 a0001c0015 a0001c0018 a0001c0021	a0001c0015t0034 a0001c0018t0042 a0001c0021t0027 a0001c0015t0034 a0001c0018t0042 a0001c0021t0027	a0001c0015t0034g0075 a0001c0018t0042g0083 a0001c0021t0027g0087 a0001c0015t0034g0075 a0001c0018t0042g0083 a0001c0021t0027g0087	3	104	0.0289	28	c.478 others(47): Show c.478-28855_478-28828dupGTGTGTGTGTGTGTGTGTGTGTGTGT GT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1D_chr3_53489611_53818733	53682365	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0114 a0001c0014t0002g0114	1	210	0.0048	28	c.122 others(47): Show c.1220+8553_1220+8580dupAAAAAAAAAAAAAAAAAAAAAAAAAA AA	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	8/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53782264	G G	GTGTATAT others(21): Show GTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0157 a0001c0003t0001g0157	1	210	0.0048	28	c.485 others(45): Show c.4852+598_4852+599insGTATATATATATATATATATATATATAT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	40/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53782264	G G	GTGTGTGT others(21): Show GTGTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0044 a0001c0003t0044	a0001c0003t0044g0077 a0001c0003t0044g0077	1	210	0.0048	28	c.485 others(45): Show c.4852+598_4852+599insGTGTGTATATATATATATATATATATAT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	40/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1E_chr1_181478517_181813084	181795767	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0186 a0001c0004t0001g0186	1	206	0.0049	28	c.620 others(45): Show c.6208+743_6208+744insATATATATATATATATATATATATATAT	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	46/47		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1G_chr17_50555715_50632474	50570557	C C	CTGTGTGT others(21): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG03579.hp2 HG01516.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0001 a0001c0008t0001 a0001c0002t0001 a0001c0008t0001	a0001c0002t0001g0087 a0001c0008t0001g0104 a0001c0002t0001g0087 a0001c0008t0001g0104	2	246	0.0081	28	c.586 others(43): Show c.586+759_586+786dupTGTGTGTGTGTGTGTGTGTGTGTGTGTG	CACNA1G	ENSG00000006283.18	transcript	ENST00000359106.10	protein_coding	4/37		INFO_REALIGN_3_PRIME	chr17	TogoVar
CACNA1I_chr22_39565753_39694735	39602018	C C	CTCCCTCC others(21): Show CTCCCTCCCTCCCTCCCTCCCTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0107 a0001c0001t0004g0107	1	236	0.0042	28	c.482 others(45): Show c.482+1368_482+1369insCTCCCTCCCTCCCTCCCTCCTTCCTTCC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39686609	C C	CATATATA others(21): Show CATATATATATATATGCATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0034 a0004c0004t0034	a0004c0004t0034g0011 a0004c0004t0034g0011	1	236	0.0042	28	c.21 others(37): Show c.218_*219insGCATATATATATATATATATATATATAT	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	37/37	219	INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1S_chr1_201034512_201117426	201111922	T T	TCCTCCTC others(21): Show TCCTCCTCCTCTTCCTCCTCCTCCCCCAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(224): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02615.hp1 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(27): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0018 a0020 a0021 a0023 a0024 a0025 a0026 a0027 a0029 a0030 a0031 a0032 a0033 a0034 a0035 a0036	a0001c0001 a0001c0002 a0001c0003 others(69): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0009 a0001c0011 a0001c0014 a0001c0016 a0001c0017 a0001c0021 a0001c0025 a0001c0026 a0001c0030 a0001c0031 a0001c0033 a0001c0038 a0001c0050 a0001c0051 a0001c0063 a0001c0070 a0001c0083 a0001c0084 a0001c0090 a0002c0008 a0002c0010 a0002c0012 a0002c0020 a0002c0023 a0002c0045 a0002c0047 a0002c0048 a0002c0058 a0002c0064 a0002c0067 a0002c0075 a0003c0005 a0003c0015 a0003c0056 a0003c0082 a0003c0086 a0004c0006 a0005c0052 a0005c0054 a0005c0078 a0006c0066 a0006c0088 a0007c0036 a0007c0081 a0009c0018 a0010c0019 a0011c0034 a0012c0037 a0013c0035 a0014c0027 a0015c0028 a0018c0092 a0020c0076 a0021c0080 a0023c0060 a0024c0061 a0025c0059 a0026c0053 a0027c0065 a0029c0087 a0030c0069 a0031c0062 a0032c0091 a0033c0097 a0034c0095 a0035c0096 a0036c0040	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(69): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0007t0001 a0001c0009t0001 a0001c0011t0001 a0001c0014t0001 a0001c0016t0001 a0001c0017t0001 a0001c0021t0001 a0001c0025t0001 a0001c0026t0001 a0001c0030t0001 a0001c0031t0001 a0001c0033t0001 a0001c0038t0001 a0001c0050t0001 a0001c0051t0001 a0001c0063t0001 a0001c0070t0001 a0001c0083t0001 a0001c0084t0001 a0001c0090t0001 a0002c0008t0001 a0002c0010t0001 a0002c0012t0001 a0002c0020t0001 a0002c0023t0001 a0002c0045t0001 a0002c0047t0001 a0002c0048t0001 a0002c0058t0001 a0002c0064t0001 a0002c0067t0001 a0002c0075t0001 a0003c0005t0001 a0003c0015t0001 a0003c0056t0001 a0003c0082t0001 a0003c0086t0001 a0004c0006t0001 a0005c0052t0001 a0005c0054t0001 a0005c0078t0001 a0006c0066t0001 a0006c0088t0001 a0007c0036t0001 a0007c0081t0001 a0009c0018t0001 a0010c0019t0001 a0011c0034t0001 a0012c0037t0001 a0013c0035t0001 a0014c0027t0001 a0015c0028t0001 a0018c0092t0001 a0020c0076t0001 a0021c0080t0001 a0023c0060t0001 a0024c0061t0001 a0025c0059t0001 a0026c0053t0001 a0027c0065t0001 a0029c0087t0001 a0030c0069t0001 a0031c0062t0001 a0032c0091t0001 a0033c0097t0001 a0034c0095t0001 a0035c0096t0001 a0036c0040t0001	a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0020 others(219): Show a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0098 a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0140 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0217 a0001c0001t0001g0230 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0297 a0001c0002t0001g0002 a0001c0002t0001g0028 a0001c0002t0001g0077 a0001c0002t0001g0104 a0001c0002t0001g0115 a0001c0002t0001g0119 a0001c0002t0001g0124 a0001c0002t0001g0141 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0178 a0001c0002t0001g0204 a0001c0002t0001g0206 a0001c0002t0001g0214 a0001c0002t0001g0231 a0001c0003t0001g0005 a0001c0003t0001g0072 a0001c0003t0001g0125 a0001c0003t0001g0143 a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0153 a0001c0003t0001g0159 a0001c0003t0001g0160 a0001c0003t0001g0166 a0001c0003t0001g0210 a0001c0003t0001g0211 a0001c0003t0001g0212 a0001c0003t0001g0213 a0001c0003t0001g0242 a0001c0004t0001g0025 a0001c0004t0001g0029 a0001c0004t0001g0059 a0001c0004t0001g0068 a0001c0004t0001g0071 a0001c0004t0001g0105 a0001c0004t0001g0108 a0001c0004t0001g0121 a0001c0004t0001g0123 a0001c0004t0001g0154 a0001c0004t0001g0157 a0001c0004t0001g0158 a0001c0004t0001g0208 a0001c0004t0001g0224 a0001c0007t0001g0056 a0001c0007t0001g0062 a0001c0007t0001g0097 a0001c0007t0001g0111 a0001c0007t0001g0142 a0001c0007t0001g0162 a0001c0007t0001g0179 a0001c0007t0001g0216 a0001c0009t0001g0186 a0001c0011t0001g0014 a0001c0011t0001g0015 a0001c0011t0001g0016 a0001c0011t0001g0084 a0001c0011t0001g0085 a0001c0011t0001g0169 a0001c0014t0001g0063 a0001c0016t0001g0129 a0001c0016t0001g0152 a0001c0016t0001g0199 a0001c0017t0001g0107 a0001c0017t0001g0223 a0001c0021t0001g0170 a0001c0021t0001g0207 a0001c0021t0001g0232 a0001c0025t0001g0076 a0001c0025t0001g0236 a0001c0026t0001g0027 a0001c0026t0001g0065 a0001c0030t0001g0171 a0001c0030t0001g0200 a0001c0031t0001g0209 a0001c0033t0001g0082 a0001c0038t0001g0096 a0001c0038t0001g0138 a0001c0050t0001g0233 a0001c0051t0001g0064 a0001c0063t0001g0193 a0001c0070t0001g0120 a0001c0083t0001g0101 a0001c0084t0001g0203 a0001c0090t0001g0112 a0002c0008t0001g0013 a0002c0008t0001g0038 a0002c0008t0001g0218 a0002c0008t0001g0220 a0002c0008t0001g0221 a0002c0010t0001g0034 a0002c0010t0001g0099 a0002c0010t0001g0102 a0002c0010t0001g0117 a0002c0010t0001g0173 a0002c0010t0001g0215 a0002c0010t0001g0225 a0002c0012t0001g0194 a0002c0020t0001g0134 a0002c0020t0001g0135 a0002c0020t0001g0139 a0002c0023t0001g0227 a0002c0045t0001g0219 a0002c0047t0001g0187 a0002c0048t0001g0234 a0002c0058t0001g0103 a0002c0064t0001g0238 a0002c0067t0001g0197 a0002c0075t0001g0195 a0003c0005t0001g0073 a0003c0005t0001g0094 a0003c0005t0001g0095 a0003c0005t0001g0110 a0003c0005t0001g0126 a0003c0005t0001g0130 a0003c0005t0001g0131 a0003c0005t0001g0136 a0003c0005t0001g0137 a0003c0005t0001g0149 a0003c0005t0001g0161 a0003c0005t0001g0191 a0003c0015t0001g0061 a0003c0015t0001g0078 a0003c0015t0001g0091 a0003c0015t0001g0118 a0003c0056t0001g0176 a0003c0082t0001g0122 a0003c0086t0001g0093 a0004c0006t0001g0022 a0004c0006t0001g0024 a0004c0006t0001g0026 a0004c0006t0001g0060 a0004c0006t0001g0067 a0004c0006t0001g0074 a0004c0006t0001g0089 a0004c0006t0001g0100 a0004c0006t0001g0106 a0004c0006t0001g0192 a0004c0006t0001g0205 a0005c0052t0001g0185 a0005c0054t0001g0177 a0005c0078t0001g0226 a0006c0066t0001g0196 a0006c0088t0001g0237 a0007c0036t0001g0244 a0007c0081t0001g0023 a0009c0018t0001g0165 a0009c0018t0001g0174 a0009c0018t0001g0189 a0010c0019t0001g0164 a0010c0019t0001g0188 a0011c0034t0001g0001 a0012c0037t0001g0086 a0012c0037t0001g0229 a0013c0035t0001g0004 a0014c0027t0001g0181 a0014c0027t0001g0182 a0015c0028t0001g0058 a0015c0028t0001g0222 a0018c0092t0001g0228 a0020c0076t0001g0087 a0021c0080t0001g0075 a0023c0060t0001g0175 a0024c0061t0001g0190 a0025c0059t0001g0083 a0026c0053t0001g0066 a0027c0065t0001g0113 a0029c0087t0001g0019 a0030c0069t0001g0081 a0031c0062t0001g0243 a0032c0091t0001g0033 a0033c0097t0001g0036 a0034c0095t0001g0235 a0035c0096t0001g0037 a0036c0040t0001g0008	227	314	0.7229	28	c.152 others(43): Show c.152+238_152+265dupGTGGGGGAGGAGGAGGAAGAGGAGGAGG	CACNA1S	ENSG00000081248.12	transcript	ENST00000362061.4	protein_coding	1/43			chr1	TogoVar
CACNA1S_chr1_201034512_201117426	201111985	C C	CCTCTTCC others(21): Show CCTCTTCCTCCTCCTCCCCCACCCTCCTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0006 a0006	a0006c0071 a0006c0071	a0006c0071t0001 a0006c0071t0001	a0006c0071t0001g0039 a0006c0071t0001g0039	1	314	0.0032	28	c.152 others(43): Show c.152+202_152+203insAAGGAGGGTGGGGGAGGAGGAGGAAGAG	CACNA1S	ENSG00000081248.12	transcript	ENST00000362061.4	protein_coding	1/43			chr1	TogoVar
CACNA2D1_chr7_81941444_82448777	82055930	G G	GTGTATAT others(21): Show GTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02970.hp2 HG03130.hp1 HG02257.hp1 HG02970.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0060 a0001c0001t0007g0078 a0001c0001t0007g0084 a0001c0001t0007g0060 a0001c0001t0007g0078 a0001c0001t0007g0084	3	144	0.0208	28	c.879 others(45): Show c.879+4497_879+4498insTATATATATATATATATATATATATACA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	10/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82137707	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02970.hp2 HG01884.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0062 a0001c0001t0007g0078 a0001c0001t0003g0062 a0001c0001t0007g0078	2	144	0.0139	28	c.355 others(45): Show c.355-1032_355-1031insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	4/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82140954	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0074 a0001c0001t0004g0074	1	144	0.0069	28	c.355 others(45): Show c.355-4279_355-4278insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	4/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82186230	A A	AGAAGGAA others(21): Show AGAAGGAAGGAAGGAAGAAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0044 a0001c0001t0004g0044	1	144	0.0069	28	c.295 others(47): Show c.295-15622_295-15621insCTTCCTTCCTTTCTTCCTTCCTTCCT TC	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82186255	A A	AAAGGAAG others(21): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01258.hp2 HG02698.hp1 others(1): Show HG00642.hp1 HG01258.hp2 HG02698.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0006t0013	a0001c0001t0001g0010 a0001c0001t0003g0034 a0001c0001t0004g0046 others(1): Show a0001c0001t0001g0010 a0001c0001t0003g0034 a0001c0001t0004g0046 a0001c0006t0013g0069	4	144	0.0278	28	c.295 others(47): Show c.295-15674_295-15647dupCCTTCCTTCCTTCCTTCCTTCCTTCC TT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82217394	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03139.hp2 HG02698.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0010 a0001c0001t0007g0085 a0001c0001t0001g0010 a0001c0001t0007g0085	2	144	0.0139	28	c.295 others(47): Show c.295-46813_295-46786dupATATATATATATATATATATATATAT AT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82297072	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0129	1	144	0.0069	28	c.294 others(47): Show c.294+38062_294+38063insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82332510	T T	TAAAGAAA others(21): Show TAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0131 a0001c0002t0002g0131	1	144	0.0069	28	c.294 others(45): Show c.294+2597_294+2624dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82385646	G G	GGTTGTTT others(21): Show GGTTGTTTTGTTTTGTTTTGTTGTTTCTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0011 a0001c0003t0001g0011	1	144	0.0069	28	c.96- others(45): Show c.96-35998_96-35997insAAGAAACAACAAAACAAAACAAAACAAC	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	1/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82385655	G G	GTTTTGTT others(21): Show GTTTTGTTTTGTTGTTTCTTGTTGTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01243.hp1 HG02572.hp2 others(4): Show HG00639.hp2 HG01243.hp1 HG02572.hp2 HG02809.hp1 HG02886.hp1 HG02922.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 others(4): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0002t0001 a0001c0003t0001 a0001c0003t0002	a0001c0001t0001g0012 a0001c0001t0007g0059 a0001c0001t0009g0080 others(4): Show a0001c0001t0001g0012 a0001c0001t0007g0059 a0001c0001t0009g0080 a0001c0001t0012g0102 a0001c0002t0001g0017 a0001c0003t0001g0072 a0001c0003t0002g0137	7	144	0.0486	28	c.96- others(45): Show c.96-36007_96-36006insAAAAACAACAAGAAACAACAAAACAAAA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	1/38			chr7	TogoVar
CACNA2D3_chr3_54117552_55079557	54141086	T T	TGTGTGTG others(21): Show TGTGTGTGTGTGTGTGTGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	118	0.0085	28	c.204 others(47): Show c.204+17493_204+17494insTGTGTGTGTGTGTGTGCGCGCGCGCG CG	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54141086	T T	TGTGTGTG others(21): Show TGTGTGTGTGTGTGTGTGTGTGTGCGCGC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0001 a0002c0020t0001	a0002c0020t0001g0021 a0002c0020t0001g0021	1	118	0.0085	28	c.204 others(47): Show c.204+17493_204+17494insTGTGTGTGTGTGTGTGTGTGTGCGCG CG	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54171136	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0034 a0001c0034	a0001c0034t0001 a0001c0034t0001	a0001c0034t0001g0086 a0001c0034t0001g0086	1	118	0.0085	28	c.204 others(47): Show c.204+47564_204+47565insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54249558	T T	TACACACA others(21): Show TACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03516.hp1 HG06807.hp1 HG02970.hp2 HG03516.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0021 a0001c0001 a0001c0008 a0001c0021	a0001c0001t0001 a0001c0008t0001 a0001c0021t0002 a0001c0001t0001 a0001c0008t0001 a0001c0021t0002	a0001c0001t0001g0035 a0001c0008t0001g0092 a0001c0021t0002g0023 a0001c0001t0001g0035 a0001c0008t0001g0092 a0001c0021t0002g0023	3	118	0.0254	28	c.205 others(47): Show c.205-70881_205-70854dupACACACACACACACACACACACACAC AC	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54252100	G G	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0044 a0001c0007t0001g0044	1	118	0.0085	28	c.205 others(47): Show c.205-68328_205-68327insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54338467	C C	CTGTGTGT others(21): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	118	0.0085	28	c.321 others(47): Show c.321+17927_321+17954dupGTGTGTGTGTGTGTGTGTGTGTGTGT GT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	3/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54478660	G G	GTGTATAT others(21): Show GTGTATATATATATATATTGCTATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0003 a0001c0010t0003	a0001c0010t0003g0057 a0001c0010t0003g0057	1	118	0.0085	28	c.382 others(47): Show c.382-24831_382-24830insGTATATATATATATATTGCTATATAT AT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	4/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54500504	T T	TCTTCCTT others(21): Show TCTTCCTTCCTTCCTATCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0031 a0001c0004t0001g0031	1	118	0.0085	28	c.382 others(45): Show c.382-2974_382-2973insATCTTCCTTCCTTCCTTCCTTCCTTCCT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	4/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54822790	C C	CTTTCTTT others(21): Show CTTTCTTTCCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	118	0.0085	28	c.139 others(47): Show c.1398+5920_1398+5921insTTTCTTTCCTTTCTTTCTTTCTTTCT TT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	14/37			chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54822790	C C	CTTTCTTT others(21): Show CTTTCTTTCTTTCTTTCTTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	118	0.0085	28	c.139 others(47): Show c.1398+5920_1398+5921insTTTCTTTCTTTCTTTCTTTTCTTTCT TT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	14/37			chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54883799	A A	ATCTCTCT others(21): Show ATCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01192.hp1 HG02280.hp1 others(1): Show HG00099.hp2 HG01192.hp1 HG02280.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0042 a0001c0002 a0001c0003 a0001c0042	a0001c0002t0001 a0001c0003t0001 a0001c0042t0001 a0001c0002t0001 a0001c0003t0001 a0001c0042t0001	a0001c0002t0001g0082 a0001c0003t0001g0094 a0001c0003t0001g0112 others(1): Show a0001c0002t0001g0082 a0001c0003t0001g0094 a0001c0003t0001g0112 a0001c0042t0001g0078	4	118	0.0339	28	c.191 others(47): Show c.1913-1458_1913-1457insTCTCTCTCTCTCTCTCTCTCTCTCTC TC	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	21/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	55019079	T T	TTTTCTTT others(21): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA19240.hp2 HG02622.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0001 a0001c0014t0001 a0001c0001t0001 a0001c0014t0001	a0001c0001t0001g0061 a0001c0014t0001g0102 a0001c0001t0001g0061 a0001c0014t0001g0102	2	118	0.0170	28	c.298 others(45): Show c.2987+766_2987+793dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	35/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNB2_chr10_18135424_18548557	18325689	C C	CCCTCCCT others(21): Show CCCTCCCTCCCTCCCTCCCTCCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02970.hp1 HG03491.hp1 others(2): Show HG01884.hp2 HG02970.hp1 HG03491.hp1 HG03491.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0018 a0001c0002t0002 a0001c0002t0015 a0001c0001t0018 a0001c0002t0002 a0001c0002t0015	a0001c0001t0018g0014 a0001c0002t0002g0092 a0001c0002t0002g0140 others(2): Show a0001c0001t0018g0014 a0001c0002t0002g0092 a0001c0002t0002g0140 a0001c0002t0015g0018 a0001c0002t0015g0019	5	200	0.0250	28	c.214 others(47): Show c.214-76232_214-76231insCCCTCCCTCCCTCCCTCCCTTCCTTC CT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18325689	C C	CCCTCCCT others(21): Show CCCTCCCTCCCTCCCTCCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0185 a0001c0002t0002g0185	1	200	0.0050	28	c.214 others(47): Show c.214-76232_214-76231insCCCTCCCTCCCTCCCTTCCTTCCTTC CT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18443018	A A	ATATATAT others(21): Show ATATATATATATATGTATATATATATATG	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0074 a0001c0001t0041g0074	1	200	0.0050	28	c.333 others(47): Show c.333+40988_333+40989insGTATATATATATATGTATATATATAT AT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18464418	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0047 a0001c0001t0003g0047	1	200	0.0050	28	c.334 others(47): Show c.334-33915_334-33914insAAAAAAAAAAAAAAAAAAAAAAAAAA AA	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18536243	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0009 a0001c0001t0029g0009	1	200	0.0050	28	c.130 others(43): Show c.1302+50_1302+77dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18443018	A A	ATATATAT others(21): Show ATATATATATATATGTATATATATATATG	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG03704.hp2 NA18986.hp2 others(1): Show HG01928.hp2 HG03704.hp2 NA18986.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0037 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0037 a0001c0002t0002 a0001c0002t0004	a0001c0001t0001g0169 a0001c0001t0037g0195 a0001c0002t0002g0108 others(1): Show a0001c0001t0001g0169 a0001c0001t0037g0195 a0001c0002t0002g0108 a0001c0002t0004g0141	4	302	0.0133	28	c.171 others(47): Show c.171+40988_171+40989insGTATATATATATATGTATATATATAT AT	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18464418	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0282 a0001c0001t0003g0282	1	302	0.0033	28	c.172 others(47): Show c.172-33915_172-33914insAAAAAAAAAAAAAAAAAAAAAAAAAA AA	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18536243	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	302	0.0033	28	c.114 others(43): Show c.1140+50_1140+77dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNG2_chr22_36555857_36708752	36679193	C C	CCTTTCTT others(21): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	214	0.0047	28	c.211 others(47): Show c.211+23172_211+23173insAAAGAAAGAAAGAAAGAAAGAAAGAA AG	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding	1/3			chr22	TogoVar
CACNG2_chr22_36555857_36708752	36679197	C C	CCTTCCTT others(21): Show CCTTCCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	214	0.0047	28	c.211 others(47): Show c.211+23168_211+23169insAAAGAAAGAAAGAAAGAAAGAAAGGA AG	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding	1/3			chr22	TogoVar
CACNG2_chr22_36555857_36708752	36703779	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG03579.hp2 HG02970.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0095 a0001c0001t0097 a0001c0001t0095 a0001c0001t0097	a0001c0001t0095g0192 a0001c0001t0097g0199 a0001c0001t0095g0192 a0001c0001t0097g0199	2	214	0.0094	28	c.-12 others(39): Show c.-1204_-1203insAAGAGAGAGAGAGAGAGAGAGAGAGAGA	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding		28		chr22	TogoVar

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