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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CABLES1_chr18_23130485_23265470	23209802	G G	GAGACGTT others(8): Show GAGACGTTGCCTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG00673.hp2 others(66): Show HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00735.hp1 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01106.hp2 HG01109.hp1 HG01175.hp1 HG01256.hp1 HG01258.hp2 HG01433.hp2 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01943.hp2 HG01978.hp2 HG02027.hp1 HG02040.hp2 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02523.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02738.hp1 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03471.hp1 HG03492.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp2 NA18948.hp1 NA18953.hp2 NA18954.hp2 NA18959.hp2 NA18964.hp2 NA18967.hp1 NA18968.hp2 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18985.hp1 NA18990.hp2 NA19000.hp2 NA19011.hp2 NA19066.hp1 NA19074.hp2 NA19083.hp2 NA19090.hp1 NA19091.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0011 a0001c0014 a0002c0002 a0007c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0017 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0029 a0001c0001t0030 a0001c0001t0035 a0001c0001t0039 a0001c0001t0041 a0001c0001t0054 a0001c0003t0002 a0001c0004t0001 a0001c0004t0007 a0001c0004t0008 a0001c0004t0016 a0001c0011t0015 a0001c0014t0036 a0002c0002t0001 a0002c0002t0003 a0002c0002t0019 a0002c0002t0027 a0007c0010t0004	a0001c0001t0001g0009 a0001c0001t0001g0029 a0001c0001t0001g0036 others(66): Show a0001c0001t0001g0009 a0001c0001t0001g0029 a0001c0001t0001g0036 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0002g0037 a0001c0001t0002g0044 a0001c0001t0003g0073 a0001c0001t0003g0105 a0001c0001t0003g0272 a0001c0001t0003g0278 a0001c0001t0004g0199 a0001c0001t0004g0204 a0001c0001t0004g0215 a0001c0001t0004g0222 a0001c0001t0004g0223 a0001c0001t0004g0234 a0001c0001t0004g0238 a0001c0001t0004g0246 a0001c0001t0004g0251 a0001c0001t0005g0210 a0001c0001t0005g0247 a0001c0001t0007g0253 a0001c0001t0007g0268 a0001c0001t0008g0096 a0001c0001t0009g0248 a0001c0001t0009g0250 a0001c0001t0010g0168 a0001c0001t0010g0169 a0001c0001t0010g0171 a0001c0001t0011g0209 a0001c0001t0015g0049 a0001c0001t0017g0196 a0001c0001t0020g0139 a0001c0001t0021g0166 a0001c0001t0023g0255 a0001c0001t0029g0068 a0001c0001t0029g0277 a0001c0001t0030g0028 a0001c0001t0035g0138 a0001c0001t0039g0200 a0001c0001t0041g0252 a0001c0001t0054g0015 a0001c0003t0002g0071 a0001c0004t0001g0143 a0001c0004t0007g0257 a0001c0004t0008g0098 a0001c0004t0016g0099 a0001c0011t0015g0081 a0001c0014t0036g0079 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0003g0082 a0002c0002t0003g0084 a0002c0002t0003g0094 a0002c0002t0003g0095 a0002c0002t0003g0125 a0002c0002t0019g0119 a0002c0002t0027g0086 a0007c0010t0004g0177	69	278	0.2482	15	c.101 others(34): Show c.1011-4171_1011-4170insGTTGCCTTTTTAGAC		CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23209808	T T	TTGCCTTT others(8): Show TTGCCTTTTTAGACAC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0013 a0006c0013t0013	a0006c0013t0013g0148 a0006c0013t0013g0148	1	278	0.0036	15	c.101 others(34): Show c.1011-4165_1011-4164insTTTTTAGACACTGCC		CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES2_chr20_62383634_62412285	62397916	A A	AGTGGTGA others(8): Show AGTGGTGATGGCGGTG	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18970.hp2 NA18948.hp1 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0146 a0001c0001t0001g0151	2	400	0.0050	15	c.363 others(32): Show c.363-1325_363-1324insCACCGCCATCACCAC		CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9						chr20	TogoVar
CABLES2_chr20_62383634_62412285	62397927	T T	TGGTGGTG others(8): Show TGGTGGTGGTGATGGC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(175): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG01099.hp2 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01256.hp1 HG01257.hp1 HG01261.hp2 HG01361.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02293.hp2 HG02300.hp1 HG02523.hp1 HG02523.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG03017.hp1 HG03225.hp1 HG03239.hp1 HG03491.hp2 HG03654.hp1 HG03704.hp1 HG03710.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18966.hp1 NA18968.hp1 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19060.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0006 a0008 a0010	a0001c0001 a0001c0002 a0002c0003 others(6): Show a0001c0001 a0001c0002 a0002c0003 a0003c0006 a0005c0009 a0005c0013 a0006c0017 a0008c0016 a0010c0020	a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 others(17): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0001c0001t0013 a0001c0001t0020 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0032 a0001c0002t0010 a0002c0003t0001 a0002c0003t0007 a0002c0003t0033 a0003c0006t0002 a0005c0009t0001 a0005c0013t0029 a0006c0017t0013 a0008c0016t0001 a0010c0020t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0020 others(99): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0079 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0006g0009 a0001c0001t0006g0167 a0001c0001t0009g0132 a0001c0001t0009g0133 a0001c0001t0009g0134 a0001c0001t0009g0138 a0001c0001t0009g0219 a0001c0001t0013g0180 a0001c0001t0020g0098 a0001c0001t0024g0143 a0001c0001t0025g0127 a0001c0001t0026g0124 a0001c0001t0027g0076 a0001c0001t0032g0111 a0001c0002t0010g0028 a0002c0003t0001g0002 a0002c0003t0001g0008 a0002c0003t0001g0019 a0002c0003t0001g0036 a0002c0003t0001g0077 a0002c0003t0001g0078 a0002c0003t0001g0082 a0002c0003t0001g0083 a0002c0003t0001g0084 a0002c0003t0001g0088 a0002c0003t0001g0091 a0002c0003t0001g0092 a0002c0003t0001g0093 a0002c0003t0001g0094 a0002c0003t0001g0165 a0002c0003t0007g0013 a0002c0003t0007g0018 a0002c0003t0007g0085 a0002c0003t0007g0089 a0002c0003t0033g0234 a0003c0006t0002g0229 a0005c0009t0001g0055 a0005c0009t0001g0057 a0005c0013t0029g0056 a0006c0017t0013g0222 a0008c0016t0001g0107 a0010c0020t0001g0231	178	400	0.4450	15	c.363 others(32): Show c.363-1336_363-1335insGCCATCACCACCACC		CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9						chr20	TogoVar
CABLES2_chr20_62383634_62412285	62397938	A A	ATGGCGGT others(8): Show ATGGCGGTGGTGGTGG	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0087 a0002c0003t0001g0087	1	400	0.0025	15	c.363 others(32): Show c.363-1347_363-1346insCCACCACCACCGCCA		CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9						chr20	TogoVar
CABLES2_chr20_62383634_62412285	62398071	C C	CGGTGGTG others(8): Show CGGTGGTGGTGACGGT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0196 a0001c0002t0002g0196	1	400	0.0025	15	c.363 others(32): Show c.363-1480_363-1479insACCGTCACCACCACC		CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9						chr20	TogoVar
CABLES2_chr20_62383634_62412285	62398073	G G	GTTATGAC others(8): Show GTTATGACGGTGGTAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01070.hp2 HG01071.hp2 others(1): Show HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01175.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0015 a0001c0005t0004g0015	4	400	0.0100	15	c.363 others(32): Show c.363-1482_363-1481insTTACCACCGTCATAA		CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9						chr20	TogoVar
CABLES2_chr20_62383634_62412285	62399240	A A	ATATTTTA others(8): Show ATATTTTATTTTATTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00597.hp1 others(90): Show HG00099.hp2 HG00140.hp1 HG00597.hp1 HG00639.hp1 HG00733.hp1 HG01070.hp1 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01891.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp2 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03225.hp2 HG03471.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG04115.hp1 HG04199.hp2 NA18951.hp2 NA18961.hp1 NA18964.hp2 NA18966.hp2 NA18968.hp2 NA18980.hp2 NA18987.hp1 NA18990.hp1 NA18992.hp1 NA19002.hp2 NA19007.hp2 NA19030.hp1 NA19043.hp1 NA19056.hp2 NA19090.hp2 NA19240.hp2 NA20300.hp2 NA20905.hp2 NA21309.hp2	a0001 a0003 a0005 others(3): Show a0001 a0003 a0005 a0007 a0009 a0011	a0001c0001 a0001c0002 a0001c0005 others(7): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008 a0003c0006 a0003c0021 a0005c0012 a0007c0015 a0009c0019 a0011c0018	a0001c0001t0011 a0001c0001t0018 a0001c0002t0001 others(15): Show a0001c0001t0011 a0001c0001t0018 a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0002t0012 a0001c0002t0014 a0001c0002t0030 a0001c0002t0031 a0001c0005t0004 a0001c0008t0003 a0003c0006t0002 a0003c0006t0022 a0003c0021t0002 a0005c0012t0002 a0007c0015t0002 a0009c0019t0002 a0011c0018t0002	a0001c0001t0011g0030 a0001c0001t0018g0215 a0001c0002t0001g0188 others(47): Show a0001c0001t0011g0030 a0001c0001t0018g0215 a0001c0002t0001g0188 a0001c0002t0002g0006 a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0014 a0001c0002t0002g0050 a0001c0002t0002g0137 a0001c0002t0002g0189 a0001c0002t0002g0190 a0001c0002t0002g0191 a0001c0002t0002g0195 a0001c0002t0002g0196 a0001c0002t0002g0199 a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0002g0202 a0001c0002t0002g0203 a0001c0002t0002g0204 a0001c0002t0002g0205 a0001c0002t0002g0209 a0001c0002t0010g0028 a0001c0002t0010g0193 a0001c0002t0012g0048 a0001c0002t0012g0192 a0001c0002t0014g0049 a0001c0002t0030g0194 a0001c0002t0031g0197 a0001c0005t0004g0025 a0001c0005t0004g0184 a0001c0008t0003g0027 a0001c0008t0003g0185 a0001c0008t0003g0186 a0001c0008t0003g0187 a0001c0008t0003g0213 a0003c0006t0002g0005 a0003c0006t0002g0032 a0003c0006t0002g0054 a0003c0006t0002g0224 a0003c0006t0002g0225 a0003c0006t0002g0228 a0003c0006t0002g0229 a0003c0006t0002g0230 a0003c0006t0022g0226 a0003c0021t0002g0232 a0005c0012t0002g0061 a0007c0015t0002g0069 a0009c0019t0002g0227 a0011c0018t0002g0223	93	400	0.2325	15	c.363 others(32): Show c.363-2663_363-2649dupAAATAAAATAAAATA		CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9						chr20	TogoVar
CABP1_chr12_120635626_120672324	120637247	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTGTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	418	0.0024	15	c.-34 others(26): Show c.-3439_-3438insTTTTTTTTTTTGTTT		CABP1	ENSG00000157782.10	transcript	ENST00000316803.8	protein_coding					3378		chr12	TogoVar
CABP5_chr19_48024383_48049079	48028493	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0011 a0003c0004t0011	a0003c0004t0011g0208 a0003c0004t0011g0208	1	376	0.0027	15	c.20 others(26): Show c.2063_*2064insAAAAAAAAAAAAAAA		CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding					889		chr19	TogoVar
CABP5_chr19_48024383_48049079	48037259	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0010 a0005c0008t0010	a0005c0008t0010g0289 a0005c0008t0010g0289	1	376	0.0027	15	c.348 others(32): Show c.348+1934_348+1948dupAAAAAAAAAAAAAAA		CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	4/5						chr19	TogoVar
CACFD1_chr9_133454978_133475848	133460471	C C	CGGCGGGG others(8): Show CGGCGGGGGCGGCGGG	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02027.hp1 HG02004.hp2 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0008 a0001c0014t0001 a0001c0001t0008 a0001c0014t0001	a0001c0001t0008g0088 a0001c0014t0001g0087 a0001c0001t0008g0088 a0001c0014t0001g0087	2	420	0.0048	15	c.121 others(30): Show c.121+295_121+296insCGGGGGCGGGGGCGG		CACFD1	ENSG00000160325.15	transcript	ENST00000316948.9	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1A_chr19_13201442_13511479	13207858	C C	CCTGCTGC others(8): Show CCTGCTGCTGCTGCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19012.hp2 NA19012.hp2	a0031 a0031	a0031c0061 a0031c0061	a0031c0061t0003 a0031c0061t0003	a0031c0061t0003g0106 a0031c0061t0003g0106	1	218	0.0046	15	c.696 others(24): Show c.6961_6975dupCAGCAGCAGCAGCAG	p.Gln others(15): Show p.Gln2321_Gln2325dup	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	47/47	7230/8647	6975/7521	2325/2506			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13294487	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02129.hp2 HG00423.hp1 HG02129.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0003 a0007c0009t0034 a0007c0009t0003 a0007c0009t0034	a0007c0009t0003g0031 a0007c0009t0034g0163 a0007c0009t0003g0031 a0007c0009t0034g0163	2	218	0.0092	15	c.308 others(34): Show c.3089+4042_3089+4056dupAAAAAAAAAAAAAAA		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	19/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13310487	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02895.hp1 HG01952.hp1 HG02895.hp1	a0002 a0034 a0002 a0034	a0002c0019 a0034c0081 a0002c0019 a0034c0081	a0002c0019t0002 a0034c0081t0019 a0002c0019t0002 a0034c0081t0019	a0002c0019t0002g0185 a0034c0081t0019g0152 a0002c0019t0002g0185 a0034c0081t0019g0152	2	218	0.0092	15	c.166 others(34): Show c.1669-1960_1669-1959insATATATATATATATA		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	12/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13318890	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18977.hp1 NA19079.hp2 NA18948.hp2 NA18977.hp1 NA19079.hp2	a0005 a0006 a0029 a0005 a0006 a0029	a0005c0102 a0006c0029 a0029c0063 a0005c0102 a0006c0029 a0029c0063	a0005c0102t0003 a0006c0029t0002 a0029c0063t0002 a0005c0102t0003 a0006c0029t0002 a0029c0063t0002	a0005c0102t0003g0122 a0006c0029t0002g0197 a0029c0063t0002g0196 a0005c0102t0003g0122 a0006c0029t0002g0197 a0029c0063t0002g0196	3	218	0.0138	15	c.134 others(34): Show c.1346-1584_1346-1570dupAAAAAAAAAAAAAAA		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	10/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13320275	A A	AGAGAGAG others(8): Show AGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0003 a0007c0009t0003	a0007c0009t0003g0069 a0007c0009t0003g0069	1	218	0.0046	15	c.134 others(34): Show c.1346-2955_1346-2954insCTCTCTCTCTCTCTC		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	10/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13336640	A A	AGAGAGAG others(8): Show AGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0155 a0001c0001t0004g0155	1	218	0.0046	15	c.979 others(30): Show c.979-732_979-731insCTCTCTCTCTCTCTC		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13346667	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0035 a0035	a0035c0057 a0035c0057	a0035c0057t0020 a0035c0057t0020	a0035c0057t0020g0002 a0035c0057t0020g0002	1	218	0.0046	15	c.979 others(34): Show c.979-10759_979-10758insTATATATATATATAT		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13415743	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 NA18522.hp1 NA18906.hp2 HG02895.hp1 NA18522.hp1 NA18906.hp2	a0001 a0034 a0001 a0034	a0001c0072 a0001c0099 a0034c0081 a0001c0072 a0001c0099 a0034c0081	a0001c0072t0037 a0001c0099t0012 a0034c0081t0019 a0001c0072t0037 a0001c0099t0012 a0034c0081t0019	a0001c0072t0037g0213 a0001c0099t0012g0029 a0034c0081t0019g0152 a0001c0072t0037g0213 a0001c0099t0012g0029 a0034c0081t0019g0152	3	218	0.0138	15	c.539 others(34): Show c.539+37118_539+37132dupTTTTTTTTTTTTTTT		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13433460	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0003 a0003	a0003c0110 a0003c0110	a0003c0110t0006 a0003c0110t0006	a0003c0110t0006g0137 a0003c0110t0006g0137	1	218	0.0046	15	c.539 others(34): Show c.539+19401_539+19415dupTTTTTTTTTTTTTTT		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13461340	A A	AAAAACAA others(8): Show AAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03516.hp2 HG06807.hp2 HG01884.hp1 HG03516.hp2 HG06807.hp2	a0003 a0004 a0003 a0004	a0003c0035 a0004c0123 a0003c0035 a0004c0123	a0003c0035t0016 a0003c0035t0024 a0004c0123t0009 a0003c0035t0016 a0003c0035t0024 a0004c0123t0009	a0003c0035t0016g0076 a0003c0035t0024g0005 a0004c0123t0009g0077 a0003c0035t0016g0076 a0003c0035t0024g0005 a0004c0123t0009g0077	3	218	0.0138	15	c.294 others(32): Show c.294-6143_294-6129dupGTTTTGTTTTGTTTT		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13510036	A A	AGGAGGGA others(8): Show AGGAGGGAGGGAGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0035 a0035	a0035c0057 a0035c0057	a0035c0057t0020 a0035c0057t0020	a0035c0057t0020g0002 a0035c0057t0020g0002	1	218	0.0046	15	c.-38 others(26): Show c.-3813_-3812insCTCCTCCCTCCCTCC		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding					3558		chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13510056	A A	AGGGAGGG others(8): Show AGGGAGGGAGGGAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0028 a0001c0005t0005g0028	1	218	0.0046	15	c.-38 others(26): Show c.-3833_-3832insCCCTCCCTCCCTCCC		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding					3578		chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13510060	A A	AGGGGGGA others(8): Show AGGGGGGAGGGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0015 a0015	a0015c0021 a0015c0021	a0015c0021t0010 a0015c0021t0010	a0015c0021t0010g0045 a0015c0021t0010g0045	1	218	0.0046	15	c.-38 others(26): Show c.-3837_-3836insCTCCCCCCTCCCCCC		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding					3582		chr19	TogoVar
CACNA1B_chr9_137872782_138129619	138121911	C C	CCAACGGT others(8): Show CCAACGGTTACCACTG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19065.hp1 NA19065.hp1	a0016 a0016	a0016c0030 a0016c0030	a0016c0030t0003 a0016c0030t0003	a0016c0030t0003g0097 a0016c0030t0003g0097	1	248	0.0040	15	c.693 others(24): Show c.6935_6949dupACGGTTACCACTGCA	p.Asn others(15): Show p.Asn2312_Cys2316dup	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	47/47	7102/9792	6950/7020	2317/2339		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	138126053	T T	TCAGAGGC others(8): Show TCAGAGGCAGCACATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0016 a0016	a0016c0030 a0016c0030	a0016c0030t0003 a0016c0030t0003	a0016c0030t0003g0097 a0016c0030t0003g0097	1	248	0.0040	15	c.40 others(26): Show c.4054_*4055insCAGAGGCAGCACATG		CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding					1435		chr9	TogoVar
CACNA1C_chr12_2047987_2702950	2175042	C C	CTGTTCAA others(8): Show CTGTTCAAACCTGTGT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03017.hp1 HG02257.hp1 HG03017.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0029 a0001c0004t0010 a0001c0002t0029 a0001c0004t0010	a0001c0002t0029g0037 a0001c0004t0010g0020 a0001c0002t0029g0037 a0001c0004t0010g0020	2	104	0.0192	15	c.477 others(34): Show c.477+54620_477+54634dupACCTGTGTTGTTCAA		CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46					INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2177587	C C	CCCTCCCT others(8): Show CCCTCCCTCCCTCCTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0042 a0001c0018t0042	a0001c0018t0042g0083 a0001c0018t0042g0083	1	104	0.0096	15	c.477 others(34): Show c.477+57160_477+57161insCCCTCCCTCCTTCCT		CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46					INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2177590	T T	TCCCTCCC others(8): Show TCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG03486.hp1 HG03579.hp2 HG02040.hp2 HG03486.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0021 a0001c0001t0002 a0001c0001t0004 a0001c0001t0021	a0001c0001t0002g0096 a0001c0001t0004g0005 a0001c0001t0021g0055 a0001c0001t0002g0096 a0001c0001t0004g0005 a0001c0001t0021g0055	3	104	0.0289	15	c.477 others(34): Show c.477+57160_477+57161insCCCTCCCTCCCTCCC		CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46						chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2380030	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp2 HG03516.hp1 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0026 a0001c0003 a0001c0026	a0001c0003t0037 a0001c0026t0003 a0001c0003t0037 a0001c0026t0003	a0001c0003t0037g0003 a0001c0026t0003g0066 a0001c0003t0037g0003 a0001c0026t0003g0066	2	104	0.0192	15	c.478 others(34): Show c.478-68932_478-68931insAAAAAAAAAAAAAAA		CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46					INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2438359	A A	ATGATGGT others(8): Show ATGATGGTGGTGGTGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01071.hp1 HG01071.hp2 others(52): Show HG00140.hp1 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01496.hp1 HG01891.hp1 HG01891.hp2 HG01993.hp1 HG01993.hp2 HG02040.hp1 HG02040.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02647.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG06807.hp1 NA18906.hp1 NA18966.hp1 NA18966.hp2 NA18989.hp2 NA19003.hp1 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(18): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0011 a0001c0014 a0001c0015 a0001c0018 a0001c0022 a0001c0024 a0001c0029 a0001c0031 a0001c0033 a0001c0038 a0002c0013 a0002c0040 a0003c0016 a0003c0023 a0004c0034 a0004c0039	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(41): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0028 a0001c0001t0043 a0001c0001t0045 a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0003t0002 a0001c0003t0008 a0001c0003t0010 a0001c0003t0018 a0001c0004t0004 a0001c0004t0010 a0001c0004t0023 a0001c0005t0002 a0001c0005t0010 a0001c0011t0014 a0001c0011t0030 a0001c0014t0032 a0001c0014t0039 a0001c0015t0034 a0001c0018t0042 a0001c0022t0014 a0001c0024t0003 a0001c0029t0019 a0001c0031t0002 a0001c0033t0020 a0001c0038t0041 a0002c0013t0016 a0002c0040t0016 a0003c0016t0011 a0003c0023t0011 a0004c0034t0009 a0004c0039t0009	a0001c0001t0001g0029 a0001c0001t0001g0088 a0001c0001t0002g0049 others(52): Show a0001c0001t0001g0029 a0001c0001t0001g0088 a0001c0001t0002g0049 a0001c0001t0002g0096 a0001c0001t0003g0063 a0001c0001t0004g0005 a0001c0001t0004g0008 a0001c0001t0005g0097 a0001c0001t0013g0024 a0001c0001t0015g0030 a0001c0001t0015g0034 a0001c0001t0017g0004 a0001c0001t0021g0055 a0001c0001t0022g0058 a0001c0001t0024g0080 a0001c0001t0028g0081 a0001c0001t0043g0032 a0001c0001t0045g0052 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0036 a0001c0002t0001g0092 a0001c0002t0003g0056 a0001c0002t0003g0065 a0001c0003t0001g0009 a0001c0003t0002g0045 a0001c0003t0008g0057 a0001c0003t0008g0059 a0001c0003t0010g0019 a0001c0003t0018g0068 a0001c0004t0004g0084 a0001c0004t0010g0020 a0001c0004t0023g0028 a0001c0005t0002g0090 a0001c0005t0002g0098 a0001c0005t0010g0089 a0001c0011t0014g0007 a0001c0011t0030g0039 a0001c0014t0032g0023 a0001c0014t0039g0095 a0001c0015t0034g0075 a0001c0018t0042g0083 a0001c0022t0014g0050 a0001c0024t0003g0067 a0001c0029t0019g0060 a0001c0031t0002g0021 a0001c0033t0020g0070 a0001c0038t0041g0047 a0002c0013t0016g0022 a0002c0040t0016g0073 a0003c0016t0011g0082 a0003c0023t0011g0048 a0004c0034t0009g0041 a0004c0039t0009g0040	55	104	0.5289	15	c.478 others(34): Show c.478-10606_478-10592dupGGTGGTGATGGTGGT		CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46					INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2450571	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0008 a0001c0001t0004g0008	1	104	0.0096	15	c.617 others(32): Show c.617+1463_617+1464insAAAAAAACAAAAAAA		CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	4/46					INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1D_chr3_53489611_53818733	53520895	T T	TTTCTTTC others(8): Show TTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0074 a0001c0003t0003g0074	1	210	0.0048	15	c.483 others(34): Show c.483+19177_483+19178insCTTTCTTTCTTTCTT		CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	3/48					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53651366	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA19066.hp2 HG03209.hp1 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0011 a0001c0002 a0001c0011	a0001c0002t0025 a0001c0011t0026 a0001c0002t0025 a0001c0011t0026	a0001c0002t0025g0054 a0001c0011t0026g0116 a0001c0002t0025g0054 a0001c0011t0026g0116	2	210	0.0095	15	c.623 others(30): Show c.623+456_623+470dupTTTTTTTTTTTTTTT		CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	4/48					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53682365	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18979.hp2 NA19004.hp1 others(1): Show NA18747.hp1 NA18979.hp2 NA19004.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0025 a0001c0004t0002 a0001c0001t0001 a0001c0002t0025 a0001c0004t0002	a0001c0001t0001g0175 a0001c0002t0025g0054 a0001c0004t0002g0052 others(1): Show a0001c0001t0001g0175 a0001c0002t0025g0054 a0001c0004t0002g0052 a0001c0004t0002g0055	4	210	0.0191	15	c.122 others(34): Show c.1220+8566_1220+8580dupAAAAAAAAAAAAAAA		CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	8/48					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53810758	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03139.hp1 NA19240.hp2 HG02280.hp2 HG03139.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0025 a0001c0002 a0001c0025	a0001c0002t0010 a0001c0025t0080 a0001c0002t0010 a0001c0025t0080	a0001c0002t0010g0190 a0001c0002t0010g0195 a0001c0025t0080g0041 a0001c0002t0010g0190 a0001c0002t0010g0195 a0001c0025t0080g0041	3	210	0.0143	15	c.625 others(32): Show c.6253-341_6253-327dupAAAAAAAAAAAAAAA		CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	48/48					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1E_chr1_181478517_181813084	181590414	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03209.hp2 HG02886.hp1 HG03209.hp2	a0003 a0005 a0003 a0005	a0003c0003 a0005c0013 a0003c0003 a0005c0013	a0003c0003t0072 a0005c0013t0020 a0003c0003t0072 a0005c0013t0020	a0003c0003t0072g0066 a0005c0013t0020g0194 a0003c0003t0072g0066 a0005c0013t0020g0194	2	206	0.0097	15	c.951 others(32): Show c.951+9638_951+9639insTATATATATATATAT		CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	6/47						chr1	TogoVar
CACNA1G_chr17_50555715_50632474	50569015	T T	TGTGTGTG others(8): Show TGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	246	0.0041	15	c.354 others(28): Show c.354+34_354+35insGTGTGTGTGTGTGTG		CACNA1G	ENSG00000006283.18	transcript	ENST00000359106.10	protein_coding	2/37						chr17	TogoVar
CACNA1I_chr22_39565753_39694735	39597066	T T	TGGGTGTC others(8): Show TGGGTGTCTGACTTCA	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0199 a0001c0002t0004g0199	1	236	0.0042	15	c.237 others(32): Show c.237-1084_237-1070dupGGGTGTCTGACTTCA		CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	1/36					INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39687986	A A	AGGGGGGC others(8): Show AGGGGGGCCTGCCAAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01109.hp2 HG01884.hp1 HG01109.hp2 HG01884.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0051 a0001c0026t0056 a0001c0026t0051 a0001c0026t0056	a0001c0026t0051g0169 a0001c0026t0056g0071 a0001c0026t0051g0169 a0001c0026t0056g0071	2	236	0.0085	15	c.15 others(26): Show c.1591_*1605dupGCCAAGGGGGGGCCT		CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	37/37				1606	INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1S_chr1_201034512_201117426	201035818	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0025 a0001c0004t0001g0025	1	314	0.0032	15	c.40 others(26): Show c.4012_*4013insAAAAAAAAAAAAAAA		CACNA1S	ENSG00000081248.12	transcript	ENST00000362061.4	protein_coding					3693		chr1	TogoVar
CACNA1S_chr1_201034512_201117426	201043059	T T	TGGGGCCA others(8): Show TGGGGCCAATACTGAC	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	314	0.0032	15	c.504 others(32): Show c.5048+207_5048+221dupGTCAGTATTGGCCCC		CACNA1S	ENSG00000081248.12	transcript	ENST00000362061.4	protein_coding	40/43						chr1	TogoVar
CACNA2D1_chr7_81941444_82448777	82099422	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0044 a0001c0001t0004g0044	1	144	0.0069	15	c.527 others(34): Show c.527-14537_527-14523dupAAAAAAAAAAAAAAA		CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	6/38						chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82137707	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01975.hp2 HG02572.hp2 others(10): Show HG01169.hp2 HG01975.hp2 HG02572.hp2 HG02738.hp2 HG02818.hp2 HG03239.hp1 HG03834.hp1 HG03834.hp2 NA18522.hp2 NA19057.hp1 NA19070.hp1 NA20752.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0004t0003	a0001c0001t0002g0097 a0001c0001t0003g0003 a0001c0001t0003g0051 others(10): Show a0001c0001t0002g0097 a0001c0001t0003g0003 a0001c0001t0003g0051 a0001c0001t0005g0096 a0001c0001t0006g0118 a0001c0001t0006g0142 a0001c0001t0010g0089 a0001c0002t0001g0017 a0001c0002t0002g0108 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0010g0090 a0001c0004t0003g0082	13	144	0.0903	15	c.355 others(32): Show c.355-1046_355-1032dupTTTTTTTTTTTTTTT		CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	4/38						chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82139945	C C	CTATTATT others(8): Show CTATTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 NA21309.hp2 HG02970.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0010 a0001c0001t0007 a0001c0001t0010	a0001c0001t0007g0078 a0001c0001t0010g0089 a0001c0001t0007g0078 a0001c0001t0010g0089	2	144	0.0139	15	c.355 others(32): Show c.355-3284_355-3270dupATAATAATAATAATA		CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	4/38						chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82229686	T T	TTTTTATT others(8): Show TTTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp1 HG00735.hp2 others(23): Show HG00639.hp1 HG00735.hp1 HG00735.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01258.hp1 HG01261.hp2 HG01433.hp2 HG01496.hp2 HG02148.hp2 HG02683.hp2 HG02738.hp1 HG03130.hp1 HG04115.hp2 HG04184.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA18960.hp1 NA18968.hp2 NA18981.hp2 NA19057.hp1 NA19060.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0002t0001 a0001c0002t0002 a0001c0002t0010	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0035 others(23): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0002g0094 a0001c0001t0002g0129 a0001c0001t0002g0140 a0001c0001t0002g0143 a0001c0001t0003g0003 a0001c0001t0003g0005 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0029 a0001c0001t0004g0031 a0001c0001t0005g0099 a0001c0001t0005g0109 a0001c0001t0005g0111 a0001c0001t0006g0125 a0001c0001t0007g0084 a0001c0002t0001g0032 a0001c0002t0001g0055 a0001c0002t0001g0057 a0001c0002t0002g0095 a0001c0002t0002g0122 a0001c0002t0002g0128 a0001c0002t0010g0092	26	144	0.1806	15	c.295 others(34): Show c.295-59092_295-59078dupTAAAATAAAATAAAA		CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38						chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82363254	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0060 a0001c0001t0007g0060	1	144	0.0069	15	c.96- others(32): Show c.96-13620_96-13606dupAAAAAAAAAAAAAAA		CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	1/38						chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82432037	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02922.hp1 NA18522.hp1 others(2): Show HG02886.hp2 HG02922.hp1 NA18522.hp1 NA18906.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008	a0001c0001t0001g0012 a0001c0001t0004g0021 a0001c0001t0004g0022 others(2): Show a0001c0001t0001g0012 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0007g0020 a0001c0001t0008g0023	5	144	0.0347	15	c.95+ others(32): Show c.95+11313_95+11327dupTTTTTTTTTTTTTTT		CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	1/38						chr7	TogoVar
CACNA2D2_chr3_50357613_50508634	50363469	T T	TGTGTGTG others(8): Show TGTGTGTGCACAGAGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01243.hp1 HG02451.hp1 HG02572.hp2 others(14): Show HG01243.hp1 HG02451.hp1 HG02572.hp2 HG02818.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03139.hp1 HG03516.hp2 HG06807.hp1 NA18906.hp1 NA19240.hp1 NA20129.hp1 NA21309.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0002c0009 others(1): Show a0001c0001 a0002c0003 a0002c0009 a0004c0005	a0001c0001t0022 a0002c0003t0003 a0002c0003t0025 others(2): Show a0001c0001t0022 a0002c0003t0003 a0002c0003t0025 a0002c0009t0003 a0004c0005t0010	a0001c0001t0022g0097 a0002c0003t0003g0032 a0002c0003t0003g0035 others(14): Show a0001c0001t0022g0097 a0002c0003t0003g0032 a0002c0003t0003g0035 a0002c0003t0003g0036 a0002c0003t0003g0167 a0002c0003t0003g0169 a0002c0003t0003g0170 a0002c0003t0003g0172 a0002c0003t0003g0173 a0002c0003t0003g0175 a0002c0003t0003g0178 a0002c0003t0003g0179 a0002c0003t0003g0180 a0002c0003t0025g0168 a0002c0009t0003g0176 a0004c0005t0010g0028 a0004c0005t0010g0029	17	234	0.0727	15	c.11 others(26): Show c.1196_*1197insGCTCTGTGCACACAC		CACNA2D2	ENSG00000007402.12	transcript	ENST00000424201.7	protein_coding	38/38				1196		chr3	TogoVar

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