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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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
C5orf24_chr5_134840968_134864735	134853360	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0119 a0001c0001t0014g0119	1	402	0.0025	-21	c.-3- others(36): Show c.-3-1537_-3-1517delAAAAAAAAAAAAAAAAAAAAC	C5orf24	ENSG00000181904.9	transcript	ENST00000394976.4	protein_coding	1/1			chr5	TogoVar
C5orf34_chr5_43481709_43520148	43512760	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01884.hp1 HG01891.hp2 others(11): Show HG01167.hp2 HG01884.hp1 HG01891.hp2 HG02257.hp2 HG02572.hp2 HG02615.hp2 HG02735.hp2 HG02976.hp1 HG03486.hp2 HG03490.hp2 HG03540.hp2 HG04228.hp1 NA18522.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0012 a0001c0001t0014	a0001c0001t0001g0016 a0001c0001t0001g0189 a0001c0001t0001g0190 others(8): Show a0001c0001t0001g0016 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0004g0018 a0001c0001t0004g0041 a0001c0001t0004g0043 a0001c0001t0008g0044 a0001c0001t0012g0210 a0001c0001t0014g0212	14	340	0.0412	-21	c.-37 others(38): Show c.-37+2025_-37+2045delAAAAAAAAAAAAAAAAAAAAA	C5orf34	ENSG00000172244.9	transcript	ENST00000306862.7	protein_coding	1/12			chr5	TogoVar
C5orf46_chr5_147887722_147911538	147911316	GACCACCA others(14): Show GACCACCACCACCACCACCACC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(96): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01106.hp1 HG01168.hp2 HG01255.hp2 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01517.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01978.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02080.hp1 HG02080.hp2 HG02165.hp1 HG02486.hp1 HG02523.hp2 HG02602.hp1 HG02735.hp2 HG03239.hp1 HG03490.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp2 HG04204.hp2 NA18522.hp1 NA18939.hp2 NA18941.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp2 NA18954.hp2 NA18957.hp1 NA18963.hp2 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp2 NA18974.hp2 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18987.hp1 NA18989.hp1 NA18992.hp2 NA18993.hp1 NA18997.hp1 NA18997.hp2 NA19000.hp2 NA19001.hp1 NA19004.hp2 NA19007.hp2 NA19012.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp2 NA19059.hp2 NA19072.hp2 NA19077.hp2 NA19082.hp1 NA19083.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19240.hp2 NA20752.hp1 NA20805.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0002c0004 others(1): Show a0001c0001 a0002c0003 a0002c0004 a0003c0002	a0001c0001t0001 a0002c0003t0001 a0002c0004t0001 others(1): Show a0001c0001t0001 a0002c0003t0001 a0002c0004t0001 a0003c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0010 others(29): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0041 a0001c0001t0001g0104 a0001c0001t0001g0123 a0001c0001t0001g0125 a0002c0003t0001g0006 a0002c0003t0001g0014 a0002c0003t0001g0022 a0002c0003t0001g0034 a0002c0003t0001g0056 a0002c0004t0001g0004 a0002c0004t0001g0011 a0002c0004t0001g0032 a0002c0004t0001g0047 a0002c0004t0001g0068 a0002c0004t0001g0073 a0003c0002t0001g0002 a0003c0002t0001g0005 a0003c0002t0001g0007 a0003c0002t0001g0015 a0003c0002t0001g0035 a0003c0002t0001g0086 a0003c0002t0001g0087 a0003c0002t0001g0088 a0003c0002t0001g0090 a0003c0002t0001g0092 a0003c0002t0001g0094 a0003c0002t0001g0097 a0003c0002t0001g0098	99	452	0.2190	-21	c.-48 others(32): Show c.-4836_-4816delGGTGGTGGTGGTGGTGGTGGT	C5orf46	ENSG00000178776.5	transcript	ENST00000318315.5	protein_coding		4779		chr5	TogoVar
C5orf63_chr5_127046304_127078502	127073174	CGAGATGT others(14): Show CGAGATGTTTTCTGCTTTCTCT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02257.hp1 HG02258.hp1 others(17): Show HG01433.hp1 HG02257.hp1 HG02258.hp1 HG02559.hp1 HG02615.hp1 HG02630.hp1 HG02717.hp2 HG02886.hp1 HG03139.hp2 HG03195.hp2 HG03453.hp1 HG03516.hp1 HG03579.hp2 HG04204.hp2 NA18612.hp1 NA18981.hp2 NA19001.hp1 NA19002.hp1 NA19058.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0003t0002 a0001c0001t0002 a0001c0001t0003 a0001c0003t0002	a0001c0001t0002g0006 a0001c0001t0002g0072 a0001c0001t0002g0077 others(6): Show a0001c0001t0002g0006 a0001c0001t0002g0072 a0001c0001t0002g0077 a0001c0001t0003g0009 a0001c0001t0003g0026 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0003t0002g0073	20	350	0.0571	-21	c.-11 others(38): Show c.-110+256_-110+276delAGAGAAAGCAGAAAACATCTC	C5orf63	ENSG00000164241.14	transcript	ENST00000296662.10	protein_coding	1/4			chr5	TogoVar
C6orf15_chr6_31106223_31117575	31114860	TCATGACT others(14): Show TCATGACTCCCAGAGAGGATGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0002 a0010c0011t0002	a0010c0011t0002g0012 a0010c0011t0002g0012	1	437	0.0023	-21	c.-23 others(32): Show c.-2326_-2306delCCATCCTCTCTGGGAGTCATG	C6orf15	ENSG00000204542.3	transcript	ENST00000259870.4	protein_coding		2286		chr6	TogoVar
C7_chr5_40904497_40989643	40968557	TTATATAT others(14): Show TTATATATATTTTATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0014 a0014	a0014c0027 a0014c0027	a0014c0027t0018 a0014c0027t0018	a0014c0027t0018g0156 a0014c0027t0018g0156	1	380	0.0026	-21	c.188 others(40): Show c.1882+3694_1882+3714delTTTATATATATATATATATAT	C7	ENSG00000112936.21	transcript	ENST00000313164.10	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
C7_chr5_40904497_40989643	40968586	ATATATAT others(14): Show ATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0369 a0001c0001t0020g0369	1	380	0.0026	-21	c.188 others(40): Show c.1882+3715_1882+3735delATATATATATATATTTTTTTT	C7	ENSG00000112936.21	transcript	ENST00000313164.10	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
C7_chr5_40904497_40989643	40968588	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02280.hp1 HG02451.hp1 others(1): Show HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02647.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0008 a0002c0002t0008 a0001c0001t0008 a0002c0002t0008	a0001c0001t0008g0288 a0002c0002t0008g0070 a0002c0002t0008g0071 others(1): Show a0001c0001t0008g0288 a0002c0002t0008g0070 a0002c0002t0008g0071 a0002c0002t0008g0072	4	380	0.0105	-21	c.188 others(40): Show c.1882+3717_1882+3737delATATATATATATTTTTTTTTT	C7	ENSG00000112936.21	transcript	ENST00000313164.10	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
C7_chr5_40904497_40989643	40968590	ATATATAT others(14): Show ATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0146 a0002c0002t0011g0146	1	380	0.0026	-21	c.188 others(40): Show c.1882+3719_1882+3739delATATATATATTTTTTTTTTTT	C7	ENSG00000112936.21	transcript	ENST00000313164.10	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
C7_chr5_40904497_40989643	40968592	ATATATAT others(14): Show ATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03486.hp1 HG03195.hp1 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0008 a0002c0002t0008 a0001c0001t0008 a0002c0002t0008	a0001c0001t0008g0289 a0002c0002t0008g0157 a0001c0001t0008g0289 a0002c0002t0008g0157	2	380	0.0053	-21	c.188 others(40): Show c.1882+3721_1882+3741delATATATATTTTTTTTTTTTTT	C7	ENSG00000112936.21	transcript	ENST00000313164.10	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
C7_chr5_40904497_40989643	40968594	ATATATAT others(14): Show ATATATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 NA19065.hp2 HG01069.hp1 NA19065.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0226 a0003c0003t0001g0253 a0003c0003t0001g0226 a0003c0003t0001g0253	2	380	0.0053	-21	c.188 others(40): Show c.1882+3723_1882+3743delATATATTTTTTTTTTTTTTTT	C7	ENSG00000112936.21	transcript	ENST00000313164.10	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
C7_chr5_40904497_40989643	40968596	ATATATTT others(14): Show ATATATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0127 a0005c0005t0001g0127	1	380	0.0026	-21	c.188 others(40): Show c.1882+3725_1882+3745delATATTTTTTTTTTTTTTTTTT	C7	ENSG00000112936.21	transcript	ENST00000313164.10	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
C8orf58_chr8_22594599_22609142	22599428	GCTCCCCT others(14): Show GCTCCCCTACCTTGCCTCGCCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG00738.hp2 HG02055.hp2 others(5): Show HG00733.hp1 HG00738.hp2 HG02055.hp2 HG02280.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG06807.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0005 a0002c0004t0002g0005	8	332	0.0241	-21	c.-29 others(30): Show c.-292_-272delCTCCCCTACCTTGCCTCGCCC	C8orf58	ENSG00000241852.11	transcript	ENST00000289989.10	protein_coding		170		chr8	TogoVar
C8orf58_chr8_22594599_22609142	22599552	CCCCCGCC others(14): Show CCCCCGCCCCCCCAGCCCCGCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG02258.hp1 HG02886.hp1 others(10): Show HG02056.hp2 HG02258.hp1 HG02886.hp1 HG03225.hp1 HG03579.hp1 NA18522.hp1 NA18955.hp2 NA18956.hp2 NA18970.hp2 NA18986.hp2 NA18998.hp2 NA19010.hp1 NA19060.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0005 a0001c0002 a0003c0005	a0001c0002t0003 a0003c0005t0003 a0001c0002t0003 a0003c0005t0003	a0001c0002t0003g0006 a0001c0002t0003g0013 a0001c0002t0003g0021 others(1): Show a0001c0002t0003g0006 a0001c0002t0003g0013 a0001c0002t0003g0021 a0003c0005t0003g0010	13	332	0.0392	-21	c.-16 others(30): Show c.-168_-148delCCCCGCCCCCCCAGCCCCGCT	C8orf58	ENSG00000241852.11	transcript	ENST00000289989.10	protein_coding		46		chr8	TogoVar
CA10_chr17_51625320_52163714	51691824	CTGTCCTT others(14): Show CTGTCCTTTCCCCAGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG03486.hp1 HG01167.hp2 HG01169.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0092 a0001c0002t0001g0021 a0001c0002t0001g0067 a0001c0001t0001g0092 a0001c0002t0001g0021 a0001c0002t0001g0067	3	156	0.0192	-21	c.466 others(40): Show c.466-38109_466-38089delACACACACTGGGGAAAGGACA	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	4/8			chr17	TogoVar
CA10_chr17_51625320_52163714	51831667	AAGCAGCA others(14): Show AAGCAGCAGCAGCAGCAGCAGC	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	156	0.0064	-21	c.280 others(40): Show c.280-83870_280-83850delGCTGCTGCTGCTGCTGCTGCT	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8			chr17	TogoVar
CA4_chr17_60144973_60164546	60150654	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	380	0.0026	-21	c.58+ others(34): Show c.58+578_58+598delAAAAAAAAAAAAAAAAAAAAA	CA4	ENSG00000167434.10	transcript	ENST00000300900.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr17	TogoVar
CA5A_chr16_87883013_87941529	87892510	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01074.hp1 others(33): Show HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01109.hp1 HG01109.hp2 HG01175.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02572.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03209.hp1 HG03225.hp1 HG03516.hp2 HG03579.hp2 NA18522.hp2 NA18906.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0005 a0003c0006 others(1): Show a0001c0001 a0002c0005 a0003c0006 a0005c0008	a0001c0001t0001 a0002c0005t0001 a0003c0006t0001 others(1): Show a0001c0001t0001 a0002c0005t0001 a0003c0006t0001 a0005c0008t0001	a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0045 others(33): Show a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0089 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0127 a0001c0001t0001g0137 a0001c0001t0001g0175 a0001c0001t0001g0182 a0001c0001t0001g0199 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0316 a0001c0001t0001g0335 a0001c0001t0001g0359 a0001c0001t0001g0364 a0001c0001t0001g0377 a0001c0001t0001g0385 a0002c0005t0001g0021 a0002c0005t0001g0022 a0003c0006t0001g0003 a0003c0006t0001g0009 a0005c0008t0001g0050 a0005c0008t0001g0052	36	400	0.0900	-21	c.619 others(36): Show c.619-577_619-557delATTATTATTATTATTATTATT	CA5A	ENSG00000174990.8	transcript	ENST00000649794.3	protein_coding	5/6			chr16	TogoVar
CAB39L_chr13_49303650_49449064	49329545	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01433.hp1 HG02895.hp2 others(4): Show HG01243.hp1 HG01433.hp1 HG02895.hp2 HG02922.hp1 HG03225.hp1 HG03453.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 a0001c0002t0007	a0001c0001t0002g0251 a0001c0001t0006g0162 a0001c0002t0001g0077 others(4): Show a0001c0001t0002g0251 a0001c0001t0006g0162 a0001c0002t0001g0077 a0001c0002t0001g0205 a0001c0002t0007g0320 a0001c0002t0007g0321 a0001c0002t0007g0323	7	324	0.0216	-21	c.834 others(38): Show c.834+2381_834+2401delATATATATATATATATATATA	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	10/10			chr13	TogoVar
CAB39_chr2_230707842_230826075	230748830	AAATATAT others(14): Show AAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0240 a0001c0001t0018g0240	1	342	0.0029	-21	c.-43 others(40): Show c.-43-11127_-43-11107delATATATATATATATATATATA	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CABCOCO1_chr10_61657929_61771766	61680666	TATAACAT others(14): Show TATAACATATATGTTATACATG	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0299 a0001c0001t0001g0299	1	374	0.0027	-21	c.165 others(36): Show c.165-476_165-456delATAACATATATGTTATACATG	CABCOCO1	ENSG00000183346.9	transcript	ENST00000648843.3	protein_coding	2/7			chr10	TogoVar
CABLES2_chr20_62383634_62412285	62398137	TGATGGTG others(14): Show TGATGGTGGTGGTGGTGGTGAC	T T	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02074.hp2 NA19002.hp2 HG02071.hp2 HG02074.hp2 NA19002.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0224 a0003c0006t0002g0228 a0003c0006t0002g0230 a0003c0006t0002g0224 a0003c0006t0002g0228 a0003c0006t0002g0230	3	400	0.0075	-21	c.363 others(38): Show c.363-1566_363-1546delGTCACCACCACCACCACCATC	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar
CACHD1_chr1_64465129_64698053	64658947	CCCCACCC others(14): Show CCCCACCCCTCCAAAAAAGATA	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03516.hp2 HG03195.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0099 a0001c0001t0004g0108 a0001c0001t0003g0099 a0001c0001t0004g0108	2	166	0.0121	-21	c.195 others(36): Show c.1951+76_1951+96delCCACCCCTCCAAAAAAGATAC	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	13/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACHD1_chr1_64465129_64698053	64675993	TTAATAAT others(14): Show TTAATAATAATAATAATAATAA	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00639.hp2 HG01099.hp2 others(34): Show HG00597.hp2 HG00639.hp2 HG01099.hp2 HG01168.hp1 HG01192.hp2 HG01258.hp2 HG01433.hp2 HG02056.hp2 HG02109.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02615.hp2 HG02647.hp1 HG02738.hp1 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG03130.hp1 HG03195.hp2 HG03486.hp2 HG03942.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp2 NA18955.hp1 NA18962.hp1 NA18962.hp2 NA19002.hp1 NA19043.hp2 NA19056.hp1 NA19070.hp1 NA19070.hp2 NA19240.hp1 NA19240.hp2 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0003c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0002t0011 a0001c0003t0001 a0001c0003t0003 a0003c0010t0001	a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0027 others(34): Show a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0050 a0001c0001t0001g0058 a0001c0001t0001g0072 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0094 a0001c0001t0001g0103 a0001c0001t0001g0116 a0001c0001t0001g0148 a0001c0001t0001g0161 a0001c0001t0002g0013 a0001c0001t0002g0017 a0001c0001t0002g0129 a0001c0001t0002g0134 a0001c0001t0002g0136 a0001c0001t0002g0138 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0003g0155 a0001c0001t0005g0008 a0001c0001t0006g0065 a0001c0001t0006g0068 a0001c0001t0006g0075 a0001c0001t0007g0130 a0001c0002t0011g0145 a0001c0003t0001g0052 a0001c0003t0001g0106 a0001c0003t0003g0033 a0001c0003t0003g0035 a0003c0010t0001g0088	37	166	0.2229	-21	c.297 others(36): Show c.2975+37_2975+57delATAATAATAATAATAATAATA	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	21/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1A_chr19_13201442_13511479	13346645	TATATATA others(14): Show TATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0049 a0004c0007t0001g0049	1	218	0.0046	-21	c.979 others(40): Show c.979-10757_979-10737delTATATATATATATATATATAT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13346646	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18946.hp1 NA18995.hp1 HG00609.hp1 NA18946.hp1 NA18995.hp1	a0001 a0005 a0001 a0005	a0001c0122 a0005c0033 a0001c0122 a0005c0033	a0001c0122t0001 a0005c0033t0011 a0001c0122t0001 a0005c0033t0011	a0001c0122t0001g0174 a0005c0033t0011g0010 a0005c0033t0011g0170 a0001c0122t0001g0174 a0005c0033t0011g0010 a0005c0033t0011g0170	3	218	0.0138	-21	c.979 others(40): Show c.979-10758_979-10738delATATATATATATATATATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13346648	ATATATAT others(14): Show ATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG03471.hp1 NA18747.hp1 HG00438.hp2 HG03471.hp1 NA18747.hp1	a0001 a0004 a0011 a0001 a0004 a0011	a0001c0006 a0004c0007 a0011c0103 a0001c0006 a0004c0007 a0011c0103	a0001c0006t0009 a0004c0007t0009 a0011c0103t0004 a0001c0006t0009 a0004c0007t0009 a0011c0103t0004	a0001c0006t0009g0189 a0004c0007t0009g0147 a0011c0103t0004g0200 a0001c0006t0009g0189 a0004c0007t0009g0147 a0011c0103t0004g0200	3	218	0.0138	-21	c.979 others(40): Show c.979-10760_979-10740delAAATATATATATATATATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13346650	ATATATAT others(14): Show ATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18948.hp2 NA20905.hp1 HG02083.hp1 NA18948.hp2 NA20905.hp1	a0001 a0005 a0045 a0001 a0005 a0045	a0001c0098 a0005c0102 a0045c0036 a0001c0098 a0005c0102 a0045c0036	a0001c0098t0001 a0005c0102t0003 a0045c0036t0028 a0001c0098t0001 a0005c0102t0003 a0045c0036t0028	a0001c0098t0001g0112 a0005c0102t0003g0122 a0045c0036t0028g0173 a0001c0098t0001g0112 a0005c0102t0003g0122 a0045c0036t0028g0173	3	218	0.0138	-21	c.979 others(40): Show c.979-10762_979-10742delAAAAATATATATATATATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13346652	ATATATAT others(14): Show ATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA19079.hp2 HG01109.hp2 NA19079.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0029 a0001c0001 a0006c0029	a0001c0001t0004 a0006c0029t0002 a0001c0001t0004 a0006c0029t0002	a0001c0001t0004g0155 a0006c0029t0002g0197 a0001c0001t0004g0155 a0006c0029t0002g0197	2	218	0.0092	-21	c.979 others(40): Show c.979-10764_979-10744delAAAAAAATATATATATATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13497514	AAAAAAAA others(14): Show AAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02273.hp1 HG01975.hp2 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0049 a0001c0001 a0001c0049	a0001c0001t0004 a0001c0049t0001 a0001c0001t0004 a0001c0049t0001	a0001c0001t0004g0013 a0001c0049t0001g0012 a0001c0001t0004g0013 a0001c0049t0001g0012	2	218	0.0092	-21	c.293 others(38): Show c.293+8397_293+8417delATATATATATATATTTTTTTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13497520	AAATATAT others(14): Show AAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01261.hp1 HG01952.hp1 HG01255.hp2 HG01261.hp1 HG01952.hp1	a0002 a0009 a0010 a0002 a0009 a0010	a0002c0019 a0009c0051 a0010c0053 a0002c0019 a0009c0051 a0010c0053	a0002c0019t0002 a0009c0051t0002 a0010c0053t0003 a0002c0019t0002 a0009c0051t0002 a0010c0053t0003	a0002c0019t0002g0185 a0009c0051t0002g0184 a0010c0053t0003g0186 a0002c0019t0002g0185 a0009c0051t0002g0184 a0010c0053t0003g0186	3	218	0.0138	-21	c.293 others(38): Show c.293+8391_293+8411delATATATATATATATATATATT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13497522	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01261.hp2 others(3): Show HG01167.hp2 HG01169.hp1 HG01261.hp2 NA18939.hp2 NA18977.hp1 NA19000.hp1	a0001 a0002 a0029 others(1): Show a0001 a0002 a0029 a0032	a0001c0001 a0002c0114 a0029c0063 others(1): Show a0001c0001 a0002c0114 a0029c0063 a0032c0045	a0001c0001t0001 a0001c0001t0005 a0002c0114t0002 others(2): Show a0001c0001t0001 a0001c0001t0005 a0002c0114t0002 a0029c0063t0002 a0032c0045t0005	a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0005g0168 others(3): Show a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0005g0168 a0002c0114t0002g0192 a0029c0063t0002g0196 a0032c0045t0005g0191	6	218	0.0275	-21	c.293 others(38): Show c.293+8389_293+8409delATATATATATATATATATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46			chr19	TogoVar
CACNA1B_chr9_137872782_138129619	137900723	CGTGTGTC others(14): Show CGTGTGTCTCTGTGTCTGTGCT	C C	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0043 a0001c0003t0043	a0001c0003t0043g0127 a0001c0003t0043g0127	1	248	0.0040	-21	c.531 others(40): Show c.531-12446_531-12426delGTGTCTGTGCTGTGTGTCTCT	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	138088959	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0012 a0002c0010t0012	a0002c0010t0012g0233 a0002c0010t0012g0233	1	248	0.0040	-21	c.509 others(40): Show c.5095-7510_5095-7490delAAAAAAAAAAAAAAAAAAAAA	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	36/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1D_chr3_53489611_53818733	53511433	CACTTTCT others(14): Show CACTTTCTAGGAAGCACATCCA	C C	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA19012.hp2 NA19056.hp1 NA18977.hp1 NA19012.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0002 a0001c0004t0024 a0001c0001t0002 a0001c0004t0002 a0001c0004t0024	a0001c0001t0002g0064 a0001c0004t0002g0088 a0001c0004t0024g0090 a0001c0001t0002g0064 a0001c0004t0002g0088 a0001c0004t0024g0090	3	210	0.0143	-21	c.483 others(38): Show c.483+9715_483+9735delCTTTCTAGGAAGCACATCCAA	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	3/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1H_chr16_1148106_1226768	1154051	CGGCGGGG others(14): Show CGGCGGGGGGCGGGGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG00423.hp2 others(43): Show HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00597.hp1 HG01069.hp1 HG01071.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01884.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02074.hp2 HG02083.hp1 HG02135.hp2 HG02486.hp2 HG02622.hp2 HG02647.hp2 HG02818.hp2 HG03041.hp2 HG03098.hp1 HG03453.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp2 HG03540.hp1 NA18945.hp2 NA18948.hp2 NA18951.hp1 NA18954.hp1 NA18954.hp2 NA18966.hp1 NA18969.hp1 NA18969.hp2 NA18995.hp1 NA19002.hp1 NA19005.hp1 NA19010.hp1 NA19030.hp1 NA19080.hp1 NA19088.hp1 NA19090.hp1 NA20752.hp2	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0006 a0010 a0011 a0012 a0014 a0016 a0024 a0032 a0052 a0054 a0067 a0075	a0001c0001 a0001c0091 a0001c0092 others(24): Show a0001c0001 a0001c0091 a0001c0092 a0002c0002 a0002c0007 a0002c0008 a0002c0010 a0002c0011 a0002c0012 a0002c0035 a0002c0063 a0002c0135 a0003c0060 a0003c0068 a0004c0006 a0006c0004 a0010c0024 a0011c0020 a0012c0038 a0014c0018 a0016c0134 a0024c0037 a0032c0071 a0052c0051 a0054c0074 a0067c0130 a0075c0119	a0001c0001t0001 a0001c0001t0014 a0001c0001t0022 others(26): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0022 a0001c0091t0029 a0001c0092t0009 a0002c0002t0001 a0002c0007t0003 a0002c0008t0001 a0002c0010t0001 a0002c0011t0001 a0002c0012t0001 a0002c0035t0001 a0002c0063t0001 a0002c0135t0043 a0003c0060t0039 a0003c0068t0004 a0004c0006t0001 a0006c0004t0004 a0010c0024t0001 a0011c0020t0041 a0012c0038t0001 a0014c0018t0004 a0016c0134t0003 a0024c0037t0004 a0032c0071t0001 a0052c0051t0001 a0054c0074t0001 a0067c0130t0004 a0075c0119t0001	a0001c0001t0001g0281 a0001c0001t0001g0292 a0001c0001t0001g0296 others(42): Show a0001c0001t0001g0281 a0001c0001t0001g0292 a0001c0001t0001g0296 a0001c0001t0001g0302 a0001c0001t0001g0307 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0001t0014g0293 a0001c0001t0014g0299 a0001c0001t0022g0298 a0001c0091t0029g0328 a0001c0092t0009g0306 a0002c0002t0001g0284 a0002c0007t0003g0304 a0002c0008t0001g0316 a0002c0010t0001g0319 a0002c0010t0001g0320 a0002c0011t0001g0289 a0002c0012t0001g0318 a0002c0035t0001g0288 a0002c0063t0001g0287 a0002c0135t0043g0282 a0003c0060t0039g0317 a0003c0068t0004g0290 a0004c0006t0001g0291 a0004c0006t0001g0294 a0004c0006t0001g0301 a0004c0006t0001g0303 a0004c0006t0001g0305 a0006c0004t0004g0003 a0006c0004t0004g0285 a0006c0004t0004g0286 a0010c0024t0001g0300 a0011c0020t0041g0297 a0012c0038t0001g0295 a0014c0018t0004g0311 a0016c0134t0003g0308 a0024c0037t0004g0280 a0032c0071t0001g0310 a0052c0051t0001g0312 a0054c0074t0001g0283 a0067c0130t0004g0309 a0075c0119t0001g0313	46	338	0.1361	-21	c.299 others(34): Show c.299+20_299+40delGGGGGCGGGGGGCGGGGGGCG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1189397	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01981.hp2 HG01069.hp1 HG01071.hp2 HG01981.hp2	a0002 a0016 a0002 a0016	a0002c0010 a0016c0026 a0002c0010 a0016c0026	a0002c0010t0001 a0016c0026t0008 a0002c0010t0001 a0016c0026t0008	a0002c0010t0001g0319 a0002c0010t0001g0320 a0016c0026t0008g0279 a0002c0010t0001g0319 a0002c0010t0001g0320 a0016c0026t0008g0279	3	338	0.0089	-21	c.300 others(38): Show c.300-5558_300-5538delTTTTTTTTTTTTTTTTTTTTT	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1I_chr22_39565753_39694735	39666785	CACCTGGG others(14): Show CACCTGGGAGGGGAGCCACAGG	C C	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0168 a0001c0001t0047g0168	1	236	0.0042	-21	c.410 others(38): Show c.4104+780_4104+800delACCTGGGAGGGGAGCCACAGG	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	23/36			chr22	TogoVar
CACNA2D1_chr7_81941444_82448777	82099422	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	144	0.0069	-21	c.527 others(40): Show c.527-14543_527-14523delAAAAAAAAAAAAAAAAAAAAA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	6/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82185480	GGGGAGGA others(14): Show GGGGAGGAGGAGGGGGAGGGGA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00735.hp2 HG01261.hp1 others(32): Show HG00621.hp2 HG00735.hp2 HG01261.hp1 HG02027.hp2 HG02080.hp1 HG02258.hp1 HG02451.hp2 HG02572.hp2 HG02683.hp2 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG03130.hp1 HG03195.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03834.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18952.hp1 NA18961.hp2 NA18981.hp1 NA18986.hp1 NA18995.hp2 NA19002.hp1 NA19007.hp1 NA19043.hp1 NA19057.hp2 NA19066.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(12): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0015 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0004t0003 a0001c0004t0008	a0001c0001t0002g0100 a0001c0001t0002g0129 a0001c0001t0003g0007 others(32): Show a0001c0001t0002g0100 a0001c0001t0002g0129 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0013 a0001c0001t0003g0016 a0001c0001t0003g0039 a0001c0001t0003g0052 a0001c0001t0003g0067 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0029 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0044 a0001c0001t0004g0071 a0001c0001t0005g0096 a0001c0001t0005g0136 a0001c0001t0006g0093 a0001c0001t0006g0115 a0001c0001t0006g0124 a0001c0001t0006g0142 a0001c0001t0007g0020 a0001c0001t0007g0084 a0001c0001t0008g0023 a0001c0001t0011g0028 a0001c0001t0015g0006 a0001c0002t0001g0014 a0001c0002t0001g0017 a0001c0002t0001g0026 a0001c0002t0002g0128 a0001c0003t0001g0025 a0001c0003t0002g0137 a0001c0004t0003g0082 a0001c0004t0008g0024	35	144	0.2431	-21	c.295 others(40): Show c.295-14892_295-14872delTCCCCTCCCCCTCCTCCTCCC	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D3_chr3_54117552_55079557	54122471	GCCTCCCT others(14): Show GCCTCCCTCCCCACCTCTCCTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG01106.hp1 HG02615.hp2 others(5): Show HG00423.hp1 HG01106.hp1 HG02615.hp2 HG03041.hp2 HG04115.hp1 NA18979.hp2 NA19068.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0036	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 others(4): Show a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0004t0002 a0001c0005t0001 a0001c0006t0001 a0001c0036t0005	a0001c0001t0001g0006 a0001c0001t0001g0053 a0001c0003t0001g0011 others(5): Show a0001c0001t0001g0006 a0001c0001t0001g0053 a0001c0003t0001g0011 a0001c0004t0001g0007 a0001c0004t0002g0008 a0001c0005t0001g0005 a0001c0006t0001g0009 a0001c0036t0005g0002	8	118	0.0678	-21	c.-24 others(30): Show c.-242_-222delCCTCCCTCCCCACCTCTCCTC	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding		80		chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54355517	GGTTGGCC others(14): Show GGTTGGCCATGGGGGAGCATGT	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0110 a0001c0003t0001g0110	1	118	0.0085	-21	c.322 others(40): Show c.322-31161_322-31141delGCATGTGTTGGCCATGGGGGA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	3/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54565382	AAGGAGAA others(14): Show AAGGAGAATTTTGGTAAGCATT	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0002 a0001c0021t0002	a0001c0021t0002g0023 a0001c0021t0002g0023	1	118	0.0085	-21	c.676 others(38): Show c.676+2454_676+2474delGAGAATTTTGGTAAGCATTAG	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	6/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54639062	GGATTGGG others(14): Show GGATTGGGGCGCAGAGATAAGA	G G	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02615.hp2 HG02965.hp2 others(3): Show HG01169.hp2 HG02615.hp2 HG02965.hp2 HG03471.hp1 NA18522.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0010 others(2): Show a0001c0001 a0001c0004 a0001c0010 a0001c0013 a0001c0036	a0001c0001t0001 a0001c0004t0001 a0001c0010t0001 others(2): Show a0001c0001t0001 a0001c0004t0001 a0001c0010t0001 a0001c0013t0001 a0001c0036t0005	a0001c0001t0001g0016 a0001c0001t0001g0083 a0001c0004t0001g0050 others(3): Show a0001c0001t0001g0016 a0001c0001t0001g0083 a0001c0004t0001g0050 a0001c0010t0001g0065 a0001c0013t0001g0105 a0001c0036t0005g0002	6	118	0.0509	-21	c.105 others(40): Show c.1054-3055_1054-3035delCAGAGATAAGAGATTGGGGCG	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	10/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54811465	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01934.hp1 HG02622.hp1 others(1): Show HG01243.hp2 HG01934.hp1 HG02622.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0010 a0001c0001 a0001c0004 a0001c0010	a0001c0001t0001 a0001c0004t0001 a0001c0010t0006 a0001c0001t0001 a0001c0004t0001 a0001c0010t0006	a0001c0001t0001g0029 a0001c0001t0001g0104 a0001c0004t0001g0022 others(1): Show a0001c0001t0001g0029 a0001c0001t0001g0104 a0001c0004t0001g0022 a0001c0010t0006g0062	4	118	0.0339	-21	c.138 others(40): Show c.1381-5358_1381-5338delTTTTTTTTTTTTTTTTTTTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	13/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	55073334	AATTTGCT others(14): Show AATTTGCTTTACAAAATATGGT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01169.hp2 HG02300.hp1 others(9): Show HG01106.hp1 HG01169.hp2 HG02300.hp1 HG02486.hp2 HG02630.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03516.hp1 HG03516.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0010 a0001c0021 a0001c0031 a0001c0038	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(8): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0004t0002 a0001c0007t0001 a0001c0010t0001 a0001c0010t0003 a0001c0021t0002 a0001c0031t0001 a0001c0038t0010	a0001c0001t0001g0104 a0001c0002t0001g0020 a0001c0002t0002g0066 others(9): Show a0001c0001t0001g0104 a0001c0002t0001g0020 a0001c0002t0002g0066 a0001c0002t0002g0091 a0001c0003t0001g0084 a0001c0004t0002g0008 a0001c0007t0001g0044 a0001c0010t0001g0065 a0001c0010t0003g0057 a0001c0021t0002g0023 a0001c0031t0001g0032 a0001c0038t0010g0059	12	118	0.1017	-21	c.298 others(37): Show c.2988-109_2988-89delTTTGCTTTACAAAATATGGTA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	35/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNB2_chr10_18135424_18548557	18358454	GAATACAG others(14): Show GAATACAGCAATGAATGAGGGA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0003 a0001c0001t0012g0003	1	200	0.0050	-21	c.214 others(40): Show c.214-43466_214-43446delACAGCAATGAATGAGGGAAAT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18358454	GAATACAG others(14): Show GAATACAGCAATGAATGAGGGA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0184 a0001c0001t0012g0184	1	302	0.0033	-21	c.51+ others(38): Show c.51+17481_51+17501delACAGCAATGAATGAGGGAAAT	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18481212	ATATATAT others(14): Show ATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0071 a0001c0001t0030g0071	1	302	0.0033	-21	c.172 others(40): Show c.172-17141_172-17121delATATATATATATATATATTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18481214	ATATATAT others(14): Show ATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG04184.hp1 HG03017.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0096 a0001c0001t0001g0024 a0001c0001t0001g0096	2	302	0.0066	-21	c.172 others(40): Show c.172-17139_172-17119delATATATATATATATATTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar

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