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
CPNE9_chr3_9698833_9734908	9731752	T T	TCGCCGCC others(8): Show TCGCCGCCGCTGCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG02735.hp2 NA18949.hp2 others(1): Show HG00741.hp1 HG02735.hp2 NA18949.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0132 a0001c0001t0001g0338 a0001c0001t0001g0339 others(1): Show a0001c0001t0001g0132 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0006t0001g0332	4	440	0.0091	15	c.20 others(26): Show c.2060_*2061insCGCCGCCGCTGCTGC		CPNE9	ENSG00000144550.14	transcript	ENST00000383832.8	protein_coding					1845		chr3	TogoVar
CPQ_chr8_96640242_97148501	96784145	C C	CTTGCATG others(8): Show CTTGCATGCACTATAT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0045 a0006c0010t0001g0045	1	126	0.0079	15	c.-34 others(30): Show c.-34-719_-34-718insTTGCATGCACTATAT		CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	1/7						chr8	TogoVar
CPQ_chr8_96640242_97148501	96926570	C C	CTCTTCTT others(8): Show CTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02809.hp1 HG02970.hp2 HG02280.hp2 HG02809.hp1 HG02970.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0001c0002t0001 a0002c0003t0001	a0001c0002t0001g0005 a0001c0002t0001g0084 a0002c0003t0001g0087 a0001c0002t0001g0005 a0001c0002t0001g0084 a0002c0003t0001g0087	3	126	0.0238	15	c.850 others(34): Show c.850-39360_850-39359insTTCTTCTTCTTCTTC		CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	96926576	C C	CTCTTCCT others(8): Show CTCTTCCTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0015 a0002c0003t0001g0015	1	126	0.0079	15	c.850 others(34): Show c.850-39354_850-39353insCTCTTCTTCTTCTTC		CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	96926576	C C	CTCTTCTT others(8): Show CTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG01884.hp2 others(5): Show HG00099.hp1 HG00099.hp2 HG01884.hp2 HG02273.hp2 HG02723.hp1 HG03453.hp1 HG03486.hp1 NA18522.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003 a0007c0009	a0001c0001t0001 a0001c0002t0002 a0001c0004t0001 others(2): Show a0001c0001t0001 a0001c0002t0002 a0001c0004t0001 a0002c0003t0001 a0007c0009t0001	a0001c0001t0001g0009 a0001c0001t0001g0026 a0001c0001t0001g0046 others(5): Show a0001c0001t0001g0009 a0001c0001t0001g0026 a0001c0001t0001g0046 a0001c0001t0001g0125 a0001c0002t0002g0085 a0001c0004t0001g0114 a0002c0003t0001g0008 a0007c0009t0001g0062	8	126	0.0635	15	c.850 others(34): Show c.850-39325_850-39311dupTCTTCTTCTTCTTCT		CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	97022981	T T	TATAGTAT others(8): Show TATAGTATATATATAC	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0111 a0001c0002t0001g0111	1	126	0.0079	15	c.962 others(32): Show c.962-6420_962-6406dupTAGTATATATATACA		CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	97123024	T T	TAAAATAA others(8): Show TAAAATAAATAAAATA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	126	0.0079	15	c.125 others(36): Show c.1256-19993_1256-19992insATAAATAAAATAAAA		CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	7/7					INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	97123100	T T	TAAATAAA others(8): Show TAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0055 a0001c0002t0001g0055	1	126	0.0079	15	c.125 others(36): Show c.1256-19907_1256-19893dupATAAAATAAAATAAA		CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	7/7					INFO_REALIGN_3_PRIME	chr8	TogoVar
CPSF1_chr8_144388231_144414335	144392334	T T	TGGGGGTG others(8): Show TGGGGGTGCAAGGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(120): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01169.hp2 HG01175.hp2 HG01255.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01975.hp1 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02293.hp1 HG02451.hp1 HG02572.hp2 HG02615.hp1 HG02683.hp2 HG02735.hp1 HG03017.hp1 HG03130.hp1 HG03239.hp1 HG03471.hp1 HG03491.hp2 HG03492.hp2 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03927.hp1 HG04184.hp1 HG04199.hp2 HG06807.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp1 NA18947.hp2 NA18952.hp2 NA18955.hp1 NA18957.hp1 NA18961.hp1 NA18966.hp1 NA18967.hp2 NA18969.hp1 NA18971.hp1 NA18973.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp2 NA18987.hp2 NA18989.hp1 NA18990.hp1 NA18994.hp2 NA18998.hp1 NA19000.hp1 NA19002.hp1 NA19009.hp2 NA19055.hp1 NA19056.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19080.hp1 NA19084.hp2 NA19087.hp2 NA19240.hp1 NA20129.hp1 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0008 others(2): Show a0001 a0002 a0008 a0011 a0013	a0001c0001 a0001c0008 a0001c0009 others(5): Show a0001c0001 a0001c0008 a0001c0009 a0001c0018 a0002c0004 a0008c0035 a0011c0017 a0013c0022	a0001c0001t0001 a0001c0008t0001 a0001c0009t0001 others(5): Show a0001c0001t0001 a0001c0008t0001 a0001c0009t0001 a0001c0018t0001 a0002c0004t0001 a0008c0035t0001 a0011c0017t0001 a0013c0022t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(50): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0154 a0001c0008t0001g0133 a0001c0008t0001g0134 a0001c0009t0001g0047 a0001c0009t0001g0050 a0001c0018t0001g0062 a0002c0004t0001g0028 a0002c0004t0001g0122 a0008c0035t0001g0121 a0011c0017t0001g0115 a0013c0022t0001g0116	123	350	0.3514	15	c.96 others(24): Show c.969_*983dupTCACCTTGCACCCCC		CPSF1	ENSG00000071894.17	transcript	ENST00000616140.2	protein_coding					896		chr8	TogoVar
CPSF1_chr8_144388231_144414335	144398292	C C	CCCACCAC others(8): Show CCCACCACCGTCCCCA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03453.hp2 HG02976.hp2 HG03453.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0157 a0001c0011t0001g0164 a0001c0011t0001g0157 a0001c0011t0001g0164	2	350	0.0057	15	c.189 others(29): Show c.1894+9_1894+10insTGGGGACGGTGGTGG		CPSF1	ENSG00000071894.17	transcript	ENST00000616140.2	protein_coding	19/37						chr8	TogoVar
CPSF2_chr14_92116969_92177145	92149119	T T	TACTGGTA others(8): Show TACTGGTAAGATGATA	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0116 a0001c0001t0060g0116	1	388	0.0026	15	c.114 others(34): Show c.1141-5238_1141-5224dupACTGGTAAGATGATA		CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding	9/15					INFO_REALIGN_3_PRIME	chr14	TogoVar
CPSF2_chr14_92116969_92177145	92165854	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01074.hp2 HG01081.hp1 HG01106.hp2 others(28): Show HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01934.hp2 HG01978.hp1 HG02015.hp2 HG02027.hp2 HG02135.hp1 HG02148.hp1 HG02602.hp1 HG02630.hp2 HG03130.hp2 HG03139.hp2 HG03654.hp1 NA18747.hp2 NA18949.hp2 NA18979.hp1 NA18984.hp1 NA18989.hp2 NA18991.hp2 NA18993.hp2 NA19001.hp1 NA19007.hp2 NA19009.hp1 NA19066.hp1 NA19066.hp2 NA19077.hp1 NA19088.hp1 NA19088.hp2 NA20300.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0001c0001t0010 a0001c0001t0019 others(9): Show a0001c0001t0006 a0001c0001t0010 a0001c0001t0019 a0001c0001t0054 a0001c0001t0133 a0001c0001t0134 a0001c0001t0155 a0001c0001t0156 a0001c0001t0157 a0001c0001t0158 a0001c0001t0163 a0002c0002t0010	a0001c0001t0006g0002 a0001c0001t0006g0007 a0001c0001t0006g0014 others(24): Show a0001c0001t0006g0002 a0001c0001t0006g0007 a0001c0001t0006g0014 a0001c0001t0006g0018 a0001c0001t0006g0210 a0001c0001t0006g0211 a0001c0001t0006g0217 a0001c0001t0010g0010 a0001c0001t0010g0028 a0001c0001t0010g0063 a0001c0001t0010g0080 a0001c0001t0010g0097 a0001c0001t0010g0100 a0001c0001t0010g0114 a0001c0001t0019g0086 a0001c0001t0019g0094 a0001c0001t0019g0098 a0001c0001t0019g0112 a0001c0001t0054g0214 a0001c0001t0133g0192 a0001c0001t0134g0207 a0001c0001t0155g0075 a0001c0001t0156g0074 a0001c0001t0157g0106 a0001c0001t0158g0069 a0001c0001t0163g0014 a0002c0002t0010g0078	31	388	0.0799	15	c.41 others(26): Show c.4121_*4135dupTTTTTTTTTTTTTTT		CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding	16/16				4136	INFO_REALIGN_3_PRIME	chr14	TogoVar
CPSF2_chr14_92116969_92177145	92173321	A A	ATTATATA others(8): Show ATTATATAATTATATC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0088 a0001c0001t0088	a0001c0001t0088g0160 a0001c0001t0088g0160	1	388	0.0026	15	c.11 others(28): Show c.11577_*11578insTTATATAATTATATC		CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding					1177		chr14	TogoVar
CPSF3_chr2_9418654_9478101	9436774	A A	AAATAATA others(8): Show AAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00738.hp1 HG01109.hp2 others(21): Show HG00639.hp2 HG00738.hp1 HG01109.hp2 HG01884.hp1 HG02055.hp1 HG02055.hp2 HG02451.hp1 HG02486.hp1 HG02615.hp1 HG02615.hp2 HG02717.hp1 HG02886.hp1 HG02976.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03471.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA19030.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0006 a0001c0001 a0001c0002 a0002c0006	a0001c0001t0001 a0001c0002t0001 a0002c0006t0001 a0001c0001t0001 a0001c0002t0001 a0002c0006t0001	a0001c0001t0001g0048 a0001c0001t0001g0168 a0001c0002t0001g0008 others(20): Show a0001c0001t0001g0048 a0001c0001t0001g0168 a0001c0002t0001g0008 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0171 a0001c0002t0001g0172 a0002c0006t0001g0027	24	230	0.1044	15	c.760 others(30): Show c.760+421_760+435dupATAATAATAATAATA		CPSF3	ENSG00000119203.14	transcript	ENST00000238112.8	protein_coding	7/17					INFO_REALIGN_3_PRIME	chr2	TogoVar
CPSF4_chr7_99433943_99462373	99434138	G G	GCAGCGCA others(8): Show GCAGCGCAGGTAATCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0159 a0001c0001t0003g0159	1	364	0.0028	15	c.-49 others(26): Show c.-4945_-4944insCAGCGCAGGTAATCA		CPSF4	ENSG00000160917.15	transcript	ENST00000292476.10	protein_coding					4804		chr7	TogoVar
CPSF6_chr12_69234569_69279358	69249152	C C	CGGTGGGG others(8): Show CGGTGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01069.hp1 HG01928.hp2 others(3): Show HG00735.hp1 HG01069.hp1 HG01928.hp2 HG02148.hp2 HG04204.hp2 NA18974.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0002t0035 a0001c0005t0001 a0001c0002t0001 a0001c0002t0035 a0001c0005t0001	a0001c0002t0001g0046 a0001c0002t0001g0134 a0001c0002t0001g0136 others(3): Show a0001c0002t0001g0046 a0001c0002t0001g0134 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0035g0138 a0001c0005t0001g0135	6	392	0.0153	15	c.61- others(30): Show c.61-1975_61-1974insTGGGGGGGGGGGGGG		CPSF6	ENSG00000111605.18	transcript	ENST00000435070.7	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
CPSF6_chr12_69234569_69279358	69249163	G G	GGGGGGGG others(8): Show GGGGGGGGGGGGGGGT	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0174 a0001c0001t0002g0174	1	392	0.0026	15	c.61- others(30): Show c.61-1960_61-1959insGGGGGGGGTGGGGGG		CPSF6	ENSG00000111605.18	transcript	ENST00000435070.7	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
CPSF7_chr11_61397729_61434975	61434591	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02965.hp1 HG02615.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0132 a0001c0001t0002g0134 a0001c0001t0001g0132 a0001c0001t0002g0134	2	190	0.0105	15	c.-47 others(26): Show c.-4748_-4734dupAAAAAAAAAAAAAAA		CPSF7	ENSG00000149532.16	transcript	ENST00000439958.8	protein_coding					4617		chr11	TogoVar
CPT1A_chr11_68749883_68846916	68750768	A A	ACAGCCAA others(8): Show ACAGCCAAGGGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0159 a0001c0002t0003g0159	1	236	0.0042	15	c.68 others(26): Show c.6861_*6875dupCCCCTCCCTTGGCTG		CPT1A	ENSG00000110090.13	transcript	ENST00000265641.10	protein_coding					4114		chr11	TogoVar
CPT1A_chr11_68749883_68846916	68750932	T T	TAGGTGAG others(8): Show TAGGTGAGGGGCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02965.hp1 HG02723.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0166 a0001c0002t0002g0167 a0001c0002t0002g0166 a0001c0002t0002g0167	2	236	0.0085	15	c.66 others(26): Show c.6697_*6711dupGGCCGCCCCTCACCT		CPT1A	ENSG00000110090.13	transcript	ENST00000265641.10	protein_coding					3950		chr11	TogoVar
CPT1A_chr11_68749883_68846916	68801773	A A	ACTAAAGC others(8): Show ACTAAAGCACCCATGC	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	236	0.0042	15	c.555 others(32): Show c.555+2212_555+2226dupGCATGGGTGCTTTAG		CPT1A	ENSG00000110090.13	transcript	ENST00000265641.10	protein_coding	5/18						chr11	TogoVar
CPT1A_chr11_68749883_68846916	68803712	A A	AAAAATAA others(8): Show AAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01433.hp2 HG01891.hp2 others(13): Show HG01081.hp1 HG01433.hp2 HG01891.hp2 HG01952.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02615.hp2 HG02647.hp2 HG02717.hp1 HG02896.hp2 HG03579.hp2 HG04115.hp2 NA18906.hp2 NA19002.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0009 a0001c0001 a0001c0002 a0002c0009	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0033 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0008 a0002c0009t0032	a0001c0001t0002g0008 a0001c0001t0003g0198 a0001c0001t0005g0122 others(13): Show a0001c0001t0002g0008 a0001c0001t0003g0198 a0001c0001t0005g0122 a0001c0001t0005g0123 a0001c0001t0033g0130 a0001c0002t0001g0212 a0001c0002t0002g0150 a0001c0002t0002g0193 a0001c0002t0002g0195 a0001c0002t0002g0200 a0001c0002t0002g0214 a0001c0002t0002g0220 a0001c0002t0003g0141 a0001c0002t0003g0151 a0001c0002t0008g0218 a0002c0009t0032g0216	16	236	0.0678	15	c.555 others(30): Show c.555+273_555+287dupATTTTATTTTATTTT		CPT1A	ENSG00000110090.13	transcript	ENST00000265641.10	protein_coding	5/18						chr11	TogoVar
CPT1A_chr11_68749883_68846916	68838571	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00735.hp2 HG00738.hp1 others(28): Show HG00099.hp1 HG00735.hp2 HG00738.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01169.hp1 HG01433.hp2 HG01515.hp2 HG01978.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02257.hp1 HG02559.hp2 HG02922.hp1 HG03239.hp1 HG03239.hp2 HG03492.hp1 HG03579.hp2 HG03710.hp1 HG06807.hp2 NA18950.hp1 NA18951.hp2 NA18966.hp2 NA18983.hp1 NA19002.hp2 NA19056.hp1 NA19240.hp1 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0012 a0001c0001t0020 a0001c0001t0042 a0001c0002t0002 a0001c0002t0023 a0001c0003t0043 a0003c0005t0002 a0003c0005t0008	a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0176 others(28): Show a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0176 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0002g0182 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0191 a0001c0001t0003g0198 a0001c0001t0003g0202 a0001c0001t0007g0177 a0001c0001t0012g0199 a0001c0001t0020g0197 a0001c0001t0042g0233 a0001c0002t0002g0185 a0001c0002t0002g0190 a0001c0002t0002g0192 a0001c0002t0002g0193 a0001c0002t0002g0194 a0001c0002t0002g0195 a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0023g0196 a0001c0003t0043g0234 a0003c0005t0002g0184 a0003c0005t0008g0189	31	236	0.1314	15	c.-14 others(32): Show c.-14+3203_-14+3204insTTTTTTTTTTTTTTT		CPT1A	ENSG00000110090.13	transcript	ENST00000265641.10	protein_coding	1/18						chr11	TogoVar
CPT1A_chr11_68749883_68846916	68838572	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03486.hp2 HG02630.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0038 a0001c0001t0014 a0001c0001t0038	a0001c0001t0014g0106 a0001c0001t0038g0228 a0001c0001t0014g0106 a0001c0001t0038g0228	2	236	0.0085	15	c.-14 others(32): Show c.-14+3188_-14+3202dupTTTTTTTTTTTTTTT		CPT1A	ENSG00000110090.13	transcript	ENST00000265641.10	protein_coding	1/18						chr11	TogoVar
CPT1A_chr11_68749883_68846916	68838579	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG03710.hp2 NA18942.hp2 NA18977.hp2 HG03710.hp2 NA18942.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 a0001c0001t0001 a0001c0001t0003 a0001c0001t0015	a0001c0001t0001g0224 a0001c0001t0003g0222 a0001c0001t0015g0223 a0001c0001t0001g0224 a0001c0001t0003g0222 a0001c0001t0015g0223	3	236	0.0127	15	c.-14 others(32): Show c.-14+3195_-14+3196insGTTTTTTTTTTTTTT		CPT1A	ENSG00000110090.13	transcript	ENST00000265641.10	protein_coding	1/18						chr11	TogoVar
CPT1A_chr11_68749883_68846916	68838582	A A	AAAAACAA others(8): Show AAAAACAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02896.hp2 HG03486.hp1 others(1): Show HG02615.hp2 HG02896.hp2 HG03486.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0027 a0001c0002t0002 others(1): Show a0001c0001t0003 a0001c0001t0027 a0001c0002t0002 a0001c0002t0008	a0001c0001t0003g0221 a0001c0001t0027g0219 a0001c0002t0002g0220 others(1): Show a0001c0001t0003g0221 a0001c0001t0027g0219 a0001c0002t0002g0220 a0001c0002t0008g0218	4	236	0.0170	15	c.-14 others(32): Show c.-14+3192_-14+3193insGTTTTTTTTTGTTTT		CPT1A	ENSG00000110090.13	transcript	ENST00000265641.10	protein_coding	1/18						chr11	TogoVar
CPT1C_chr19_49686116_49718731	49712343	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02080.hp2 HG02602.hp1 others(3): Show HG02015.hp1 HG02080.hp2 HG02602.hp1 HG04184.hp1 NA18967.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0144 others(3): Show a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0144 a0001c0001t0001g0158 a0001c0001t0001g0211 a0001c0001t0002g0058	6	350	0.0171	15	c.201 others(32): Show c.2019+384_2020-377dupAAAAAAAAAAAAAAA		CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	17/19					INFO_REALIGN_3_PRIME	chr19	TogoVar
CPXM2_chr10_123740639_123896807	123832826	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0205 a0001c0013t0001g0205	1	288	0.0035	15	c.653 others(32): Show c.653+9522_653+9523insTTTTTTTTTTTTTTT		CPXM2	ENSG00000121898.13	transcript	ENST00000241305.4	protein_coding	4/13						chr10	TogoVar
CPXM2_chr10_123740639_123896807	123881232	T T	TCTTCCCT others(8): Show TCTTCCCTTCCCTTCC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01081.hp2 HG01109.hp2 others(12): Show HG00673.hp2 HG01081.hp2 HG01109.hp2 HG01952.hp2 HG03239.hp2 HG03491.hp1 HG03492.hp2 HG03654.hp1 NA18959.hp2 NA18979.hp1 NA18989.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0018	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0008 a0001c0002t0012 a0001c0003t0001 a0001c0003t0002 a0001c0018t0001	a0001c0001t0001g0207 a0001c0001t0001g0218 a0001c0001t0002g0202 others(12): Show a0001c0001t0001g0207 a0001c0001t0001g0218 a0001c0001t0002g0202 a0001c0002t0001g0286 a0001c0002t0008g0206 a0001c0002t0008g0208 a0001c0002t0012g0201 a0001c0003t0001g0203 a0001c0003t0001g0214 a0001c0003t0001g0215 a0001c0003t0001g0217 a0001c0003t0001g0236 a0001c0003t0001g0287 a0001c0003t0002g0204 a0001c0018t0001g0285	15	288	0.0521	15	c.305 others(30): Show c.305-938_305-924dupGGAAGGGAAGGGAAG		CPXM2	ENSG00000121898.13	transcript	ENST00000241305.4	protein_coding	1/13						chr10	TogoVar
CPZ_chr4_8587765_8624752	8609140	T T	TTCTCATT others(8): Show TTCTCATTAACTCAGC	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA20905.hp1 NA18985.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0131 a0001c0001t0001g0133	2	442	0.0045	15	c.122 others(34): Show c.1227+1715_1227+1716insTCTCATTAACTCAGC		CPZ	ENSG00000109625.19	transcript	ENST00000360986.9	protein_coding	7/10						chr4	TogoVar
CPZ_chr4_8587765_8624752	8622800	G G	GAAAAAAA others(8): Show GAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp1 NA18999.hp2 NA18747.hp1 NA18999.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0002 a0005c0005t0002 a0001c0001t0002 a0005c0005t0002	a0001c0001t0002g0072 a0005c0005t0002g0253 a0001c0001t0002g0072 a0005c0005t0002g0253	2	442	0.0045	15	c.31 others(26): Show c.3183_*3184insAAAAAAAAAAAAAAA		CPZ	ENSG00000109625.19	transcript	ENST00000360986.9	protein_coding					3049		chr4	TogoVar
CR1_chr1_207491157_207646765	207545757	G G	GCTTAAAA others(8): Show GCTTAAAAGAAAGACA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01167.hp1 HG01169.hp1 others(10): Show HG00735.hp2 HG01167.hp1 HG01169.hp1 HG01496.hp2 HG02055.hp2 HG02083.hp2 HG02257.hp2 HG02630.hp1 HG02896.hp2 HG02922.hp1 HG03098.hp1 HG03710.hp1 NA18906.hp1	a0019 a0021 a0022 others(6): Show a0019 a0021 a0022 a0034 a0035 a0036 a0039 a0044 a0054	a0019c0019 a0021c0035 a0021c0050 others(7): Show a0019c0019 a0021c0035 a0021c0050 a0022c0029 a0034c0049 a0035c0048 a0036c0038 a0039c0064 a0044c0072 a0054c0076	a0019c0019t0002 a0021c0035t0005 a0021c0050t0005 others(8): Show a0019c0019t0002 a0021c0035t0005 a0021c0050t0005 a0022c0029t0004 a0022c0029t0007 a0034c0049t0005 a0035c0048t0005 a0036c0038t0016 a0039c0064t0003 a0044c0072t0002 a0054c0076t0002	a0019c0019t0002g0188 a0019c0019t0002g0189 a0019c0019t0002g0190 others(10): Show a0019c0019t0002g0188 a0019c0019t0002g0189 a0019c0019t0002g0190 a0021c0035t0005g0066 a0021c0050t0005g0256 a0022c0029t0004g0224 a0022c0029t0007g0130 a0034c0049t0005g0067 a0035c0048t0005g0068 a0036c0038t0016g0060 a0039c0064t0003g0247 a0044c0072t0002g0304 a0054c0076t0002g0065	13	360	0.0361	15	c.251 others(30): Show c.2516+80_2516+81insTTAAAAGAAAGACAC		CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	15/46					INFO_REALIGN_3_PRIME	chr1	TogoVar
CR2_chr1_207449328_207494892	207486230	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02970.hp1 NA18522.hp1 HG01891.hp1 HG02970.hp1 NA18522.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0003 a0001c0007t0001 a0001c0007t0003	a0001c0007t0001g0195 a0001c0007t0001g0207 a0001c0007t0003g0194 a0001c0007t0001g0195 a0001c0007t0001g0207 a0001c0007t0003g0194	3	378	0.0079	15	c.18 others(30): Show c.18+670_*18+684dupAAAAAAAAAAAAAAA		CR2	ENSG00000117322.19	transcript	ENST00000367057.8	protein_coding	19/19					INFO_REALIGN_3_PRIME	chr1	TogoVar
CRACDL_chr2_98788846_98941225	98795077	A A	ATATTTTT others(8): Show ATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA20805.hp2 NA18943.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0140 a0001c0001t0001g0112 a0001c0001t0001g0140	2	316	0.0063	15	c.275 others(32): Show c.2750-407_2750-406insAAAAAAAAAAAAATA		CRACDL	ENSG00000196872.12	transcript	ENST00000397899.7	protein_coding	9/9						chr2	TogoVar
CRACDL_chr2_98788846_98941225	98795077	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01168.hp1 HG00639.hp2 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0237 a0001c0001t0001g0074 a0001c0001t0001g0237	2	316	0.0063	15	c.275 others(32): Show c.2750-421_2750-407dupAAAAAAAAAAAAAAA		CRACDL	ENSG00000196872.12	transcript	ENST00000397899.7	protein_coding	9/9						chr2	TogoVar
CRACDL_chr2_98788846_98941225	98891376	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01433.hp1 HG01981.hp2 others(6): Show HG00423.hp2 HG01433.hp1 HG01981.hp2 HG02280.hp1 HG02615.hp1 HG02922.hp1 HG03688.hp1 NA18522.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 others(6): Show a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0044 a0001c0001t0001g0065 a0001c0001t0001g0099 a0001c0001t0001g0234 a0001c0001t0001g0287 a0001c0001t0001g0288	9	316	0.0285	15	c.-11 others(34): Show c.-11+44547_-11+44561dupTTTTTTTTTTTTTTT		CRACDL	ENSG00000196872.12	transcript	ENST00000397899.7	protein_coding	1/9						chr2	TogoVar
CRACDL_chr2_98788846_98941225	98918539	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0006 a0003c0003t0002g0006	1	316	0.0032	15	c.-11 others(34): Show c.-11+17384_-11+17398dupTTTTTTTTTTTTTTT		CRACDL	ENSG00000196872.12	transcript	ENST00000397899.7	protein_coding	1/9						chr2	TogoVar
CRACD_chr4_56044098_56335609	56172020	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02717.hp1 HG02145.hp2 HG02717.hp1	a0006 a0016 a0006 a0016	a0006c0009 a0016c0019 a0006c0009 a0016c0019	a0006c0009t0003 a0016c0019t0011 a0006c0009t0003 a0016c0019t0011	a0006c0009t0003g0048 a0016c0019t0011g0041 a0006c0009t0003g0048 a0016c0019t0011g0041	2	250	0.0080	15	c.-33 others(34): Show c.-335-7263_-335-7249dupTTTTTTTTTTTTTTT		CRACD	ENSG00000109265.15	transcript	ENST00000682029.1	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
CRACD_chr4_56044098_56335609	56183235	A A	AAAAATAA others(8): Show AAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01433.hp2 HG02145.hp2 others(6): Show HG00741.hp2 HG01433.hp2 HG02145.hp2 HG02300.hp1 HG02647.hp1 HG02922.hp2 HG03098.hp1 HG03239.hp1 HG03654.hp1	a0001 a0003 a0010 others(1): Show a0001 a0003 a0010 a0016	a0001c0001 a0003c0002 a0010c0028 others(1): Show a0001c0001 a0003c0002 a0010c0028 a0016c0019	a0001c0001t0001 a0001c0001t0003 a0003c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0003 a0003c0002t0002 a0010c0028t0013 a0016c0019t0011	a0001c0001t0001g0102 a0001c0001t0003g0002 a0001c0001t0003g0054 others(6): Show a0001c0001t0001g0102 a0001c0001t0003g0002 a0001c0001t0003g0054 a0001c0001t0003g0197 a0001c0001t0003g0237 a0003c0002t0002g0156 a0003c0002t0002g0164 a0010c0028t0013g0109 a0016c0019t0011g0041	9	250	0.0360	15	c.-18 others(34): Show c.-189+3845_-189+3859dupTAAAATAAAATAAAA		CRACD	ENSG00000109265.15	transcript	ENST00000682029.1	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
CRACD_chr4_56044098_56335609	56218428	T T	TTCCCCTC others(8): Show TTCCCCTCCCTTTCCA	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0001 a0010c0014t0001	a0010c0014t0001g0169 a0010c0014t0001g0169	1	250	0.0040	15	c.-18 others(36): Show c.-189+39013_-189+39027dupATCCCCTCCCTTTCC		CRACD	ENSG00000109265.15	transcript	ENST00000682029.1	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
CRACD_chr4_56044098_56335609	56286525	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01069.hp1 HG01069.hp2 others(17): Show HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01109.hp1 HG01358.hp1 HG01496.hp1 HG01928.hp1 HG02602.hp2 HG03669.hp2 HG03704.hp2 HG04115.hp2 NA18945.hp2 NA18952.hp2 NA18971.hp2 NA19002.hp1 NA19005.hp1 NA19011.hp2 NA19066.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0028	a0001c0001 a0002c0003 a0003c0002 others(2): Show a0001c0001 a0002c0003 a0003c0002 a0004c0004 a0028c0030	a0001c0001t0003 a0001c0001t0005 a0001c0001t0033 others(5): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0033 a0002c0003t0001 a0002c0003t0015 a0003c0002t0002 a0004c0004t0014 a0028c0030t0001	a0001c0001t0003g0006 a0001c0001t0003g0009 a0001c0001t0003g0012 others(17): Show a0001c0001t0003g0006 a0001c0001t0003g0009 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0157 a0001c0001t0003g0162 a0001c0001t0003g0177 a0001c0001t0005g0172 a0001c0001t0005g0173 a0001c0001t0033g0152 a0002c0003t0001g0198 a0002c0003t0001g0211 a0002c0003t0001g0221 a0002c0003t0015g0060 a0003c0002t0002g0106 a0003c0002t0002g0156 a0003c0002t0002g0184 a0003c0002t0002g0207 a0004c0004t0014g0163 a0028c0030t0001g0203	20	250	0.0800	15	c.-16 others(34): Show c.-16-11681_-16-11667dupAAAAAAAAAAAAAAA		CRACD	ENSG00000109265.15	transcript	ENST00000682029.1	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
CRACR2A_chr12_3610328_3758109	3621648	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01993.hp1 HG01993.hp2 others(10): Show HG00735.hp2 HG01993.hp1 HG01993.hp2 HG02055.hp1 HG02080.hp1 HG02132.hp2 HG03139.hp1 NA18969.hp2 NA18970.hp2 NA19009.hp1 NA19011.hp2 NA19074.hp2 NA19088.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0002c0002 a0004c0004 others(1): Show a0001c0001 a0002c0002 a0004c0004 a0005c0005	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0004c0004t0001 a0005c0005t0001	a0001c0001t0001g0095 a0001c0001t0001g0180 a0001c0001t0001g0182 others(10): Show a0001c0001t0001g0095 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0244 a0001c0001t0001g0316 a0001c0001t0003g0014 a0001c0001t0003g0022 a0002c0002t0001g0083 a0002c0002t0001g0166 a0002c0002t0001g0236 a0004c0004t0001g0286 a0005c0005t0001g0086 a0005c0005t0001g0229	13	320	0.0406	15	c.193 others(34): Show c.1933-2291_1933-2277dupTTTTTTTTTTTTTTT		CRACR2A	ENSG00000130038.10	transcript	ENST00000440314.7	protein_coding	17/19						chr12	TogoVar
CRACR2A_chr12_3610328_3758109	3639457	A A	ACACACAC others(8): Show ACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0275 a0003c0003t0001g0275	1	320	0.0031	15	c.127 others(34): Show c.1272-1004_1272-1003insGTGTGTGTGTGTGTG		CRACR2A	ENSG00000130038.10	transcript	ENST00000440314.7	protein_coding	13/19						chr12	TogoVar
CRACR2A_chr12_3610328_3758109	3666330	C C	CGTGTGTG others(8): Show CGTGTGTGTGTGTTGT	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0090 a0003c0003t0001g0090	1	320	0.0031	15	c.672 others(32): Show c.672-6677_672-6676insACAACACACACACAC		CRACR2A	ENSG00000130038.10	transcript	ENST00000440314.7	protein_coding	7/19						chr12	TogoVar
CRACR2A_chr12_3610328_3758109	3720416	G G	GAAGAAGA others(8): Show GAAGAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	320	0.0031	15	c.-11 others(34): Show c.-117-7100_-117-7099insTCTTTCTTTCTTCTT		CRACR2A	ENSG00000130038.10	transcript	ENST00000440314.7	protein_coding	2/19						chr12	TogoVar
CRACR2A_chr12_3610328_3758109	3745780	A A	AAAAATAA others(8): Show AAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01071.hp2 HG01261.hp2 others(20): Show HG00642.hp2 HG01071.hp2 HG01261.hp2 HG01358.hp1 HG01433.hp2 HG02055.hp2 HG02698.hp1 HG02698.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02976.hp2 HG03041.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03654.hp2 HG03704.hp1 NA18964.hp1 NA18974.hp1 NA18979.hp1 NA18998.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0006 a0017 a0029	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0006c0006 a0017c0013 a0029c0026	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0002 a0003c0003t0001 a0006c0006t0001 a0006c0006t0002 a0017c0013t0001 a0029c0026t0002	a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0039 others(20): Show a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0278 a0001c0001t0001g0288 a0001c0001t0002g0274 a0001c0001t0002g0277 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0308 a0001c0001t0003g0008 a0001c0001t0003g0019 a0002c0002t0002g0065 a0003c0003t0001g0275 a0006c0006t0001g0265 a0006c0006t0002g0248 a0017c0013t0001g0317 a0029c0026t0002g0092	23	320	0.0719	15	c.-38 others(34): Show c.-387+7220_-387+7234dupATTTTATTTTATTTT		CRACR2A	ENSG00000130038.10	transcript	ENST00000440314.7	protein_coding	1/19						chr12	TogoVar
CRAT_chr9_129089794_129115793	129097250	C C	CCGGTCGG others(8): Show CCGGTCGGTGTAGCCT	disruptive_inframe_insertion others(1): Show disruptive_inframe_insertion splice_region_variant	MODERATE	NA18988.hp1 NA18988.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0108 a0007c0012t0001g0108	1	420	0.0024	15	c.151 others(24): Show c.1512_1526dupAGGCTACACCGACCG	p.Arg others(28): Show p.Arg509_Ala510insGlyTyrThrAspArg	CRAT	ENSG00000095321.18	transcript	ENST00000318080.7	protein_coding	12/14	1810/2768	1526/1881	509/626			chr9	TogoVar
CRB1_chr1_197263252_197483455	197276183	A A	ATGCTGTA others(8): Show ATGCTGTATCCCATAC	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA20300.hp1 HG02818.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0168 a0001c0002t0001g0167 a0001c0001t0001g0168 a0001c0002t0001g0167	2	186	0.0108	15	c.70+ others(30): Show c.70+7728_70+7742dupATACTGCTGTATCCC		CRB1	ENSG00000134376.17	transcript	ENST00000367400.8	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
CRB1_chr1_197263252_197483455	197294591	A A	AGCATGCA others(8): Show AGCATGCACATGCTAT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	186	0.0054	15	c.70+ others(32): Show c.70+26109_70+26110insGCATGCACATGCTAT		CRB1	ENSG00000134376.17	transcript	ENST00000367400.8	protein_coding	1/11						chr1	TogoVar
CRB1_chr1_197263252_197483455	197319259	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02280.hp1 HG03098.hp1 HG01361.hp2 HG02280.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0050 a0001c0001t0001g0170 a0001c0002t0001g0169 a0001c0001t0001g0050 a0001c0001t0001g0170 a0001c0002t0001g0169	3	186	0.0161	15	c.71- others(30): Show c.71-9158_71-9144dupAAAAAAAAAAAAAAA		CRB1	ENSG00000134376.17	transcript	ENST00000367400.8	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr1	TogoVar

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