Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CPQ_chr8_96640242_97148501	96730866	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	126	0.0079	30	c.-34 others(49): Show c.-34-53972_-34-53971insATATATATATATATATATATATATAT ATAT	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	96737355	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	126	0.0079	30	c.-34 others(49): Show c.-34-47495_-34-47494insATATATATATATATATATATATATAT ATAT	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	96926576	C C	CTCTTCCT others(23): Show CTCTTCCTCTTCCTCTTCCTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19088.hp2 NA19060.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0049 a0001c0002t0001g0101 a0001c0002t0001g0049 a0001c0002t0001g0101	2	126	0.0159	30	c.850 others(49): Show c.850-39354_850-39353insCTCTTCCTCTTCCTCTTCTTCTTCTT CTTC	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(23): Show CTCTTCCTCTTCCTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA19057.hp2 NA18979.hp1 NA19057.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0097 a0001c0002t0001g0106 a0001c0002t0001g0097 a0001c0002t0001g0106	2	126	0.0159	30	c.850 others(49): Show c.850-39354_850-39353insCTCTTCCTCTTCTTCTTCTTCTTCTT CTTC	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(23): Show CTCTTCCTCTTCTTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02004.hp1 HG02895.hp2 HG01081.hp1 HG02004.hp1 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0034 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0001g0034 a0001c0001t0002g0011 a0001c0001t0002g0012	3	126	0.0238	30	c.850 others(49): Show c.850-39354_850-39353insCTCTTCTTCTTCTTCTTCTTCTTCTT CTTC	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(23): Show CTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG04184.hp2 NA18945.hp2 others(1): Show HG03195.hp1 HG04184.hp2 NA18945.hp2 NA18964.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0008c0011 a0001c0001 a0001c0002 a0008c0011	a0001c0001t0001 a0001c0002t0001 a0008c0011t0002 a0001c0001t0001 a0001c0002t0001 a0008c0011t0002	a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0002t0001g0124 others(1): Show a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0002t0001g0124 a0008c0011t0002g0037	4	126	0.0318	30	c.850 others(49): Show c.850-39340_850-39311dupTCTTCTTCTTCTTCTTCTTCTTCTTC TTCT	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPSF2_chr14_92116969_92177145	92173331	A A	ATATATAT others(23): Show ATATATATATATACACACGTATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	388	0.0026	30	c.11 others(43): Show c.11587_*11588insTATATATATATACACACGTATATATATATG	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding		1187		chr14	TogoVar
CPSF2_chr14_92116969_92177145	92173388	T T	TACATATG others(23): Show TACATATGTATATATATATGTATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0113 a0001c0001t0113	a0001c0001t0113g0253 a0001c0001t0113g0253	1	388	0.0026	30	c.11 others(43): Show c.11644_*11645insACATATGTATATATATATGTATATATATAC	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding		1244		chr14	TogoVar
CPSF6_chr12_69234569_69279358	69236163	C C	CTAAAATA others(23): Show CTAAAATATATATAGCATATATATTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0182 a0001c0001t0060g0182	1	392	0.0026	30	c.-34 others(41): Show c.-3484_-3483insTAAAATATATATAGCATATATATTATATAT	CPSF6	ENSG00000111605.18	transcript	ENST00000435070.7	protein_coding		3405		chr12	TogoVar
CPSF6_chr12_69234569_69279358	69236174	A A	ATAGCATA others(23): Show ATAGCATATATATTATATATTAAAATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0045 a0001c0001t0027g0045	1	392	0.0026	30	c.-34 others(41): Show c.-3473_-3472insTAGCATATATATTATATATTAAAATATATG	CPSF6	ENSG00000111605.18	transcript	ENST00000435070.7	protein_coding		3394		chr12	TogoVar
CPSF6_chr12_69234569_69279358	69236204	A A	ATAGCATA others(23): Show ATAGCATATATATTATATATTAAAATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0265 a0001c0001t0014g0265	1	392	0.0026	30	c.-34 others(41): Show c.-3443_-3442insTAGCATATATATTATATATTAAAATATATG	CPSF6	ENSG00000111605.18	transcript	ENST00000435070.7	protein_coding		3364		chr12	TogoVar
CPSF6_chr12_69234569_69279358	69236234	A A	ATAGCATA others(23): Show ATAGCATATATATTATATATTAAAATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG01167.hp1 HG01169.hp2 others(6): Show HG00323.hp2 HG01167.hp1 HG01169.hp2 HG01346.hp2 HG01358.hp2 HG02109.hp1 NA18960.hp2 NA18967.hp2 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0017 a0001c0001t0002 a0001c0001t0011 a0001c0001t0017	a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0060 others(5): Show a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0060 a0001c0001t0002g0197 a0001c0001t0002g0248 a0001c0001t0011g0252 a0001c0001t0017g0007 a0001c0001t0017g0213	9	392	0.0230	30	c.-34 others(41): Show c.-3413_-3412insTAGCATATATATTATATATTAAAATATATG	CPSF6	ENSG00000111605.18	transcript	ENST00000435070.7	protein_coding		3334		chr12	TogoVar
CPSF6_chr12_69234569_69279358	69236324	G G	GTAGCATA others(23): Show GTAGCATATATATTATATATTAAAATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG02148.hp1 NA19043.hp2 HG02056.hp2 HG02148.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0057 a0001c0001t0002 a0001c0001t0009 a0001c0001t0057	a0001c0001t0002g0050 a0001c0001t0009g0202 a0001c0001t0057g0226 a0001c0001t0002g0050 a0001c0001t0009g0202 a0001c0001t0057g0226	3	392	0.0077	30	c.-33 others(41): Show c.-3323_-3322insTAGCATATATATTATATATTAAAATATATA	CPSF6	ENSG00000111605.18	transcript	ENST00000435070.7	protein_coding		3244		chr12	TogoVar
CPXM2_chr10_123740639_123896807	123881225	A A	ACCCTCCC others(23): Show ACCCTCCCCTCCCCTCCCCTCCCCTCCCCTT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	288	0.0035	30	c.305 others(45): Show c.305-917_305-916insAAGGGGAGGGGAGGGGAGGGGAGGGGAGGG	CPXM2	ENSG00000121898.13	transcript	ENST00000241305.4	protein_coding	1/13			chr10	TogoVar
CPXM2_chr10_123740639_123896807	123881225	A A	ACCCTCCC others(23): Show ACCCTCCCCTCCCCTCCCCTCCCCTTCCCTC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG04228.hp2 HG01168.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0062 a0001c0003t0001g0064 a0001c0001t0001g0062 a0001c0003t0001g0064	2	288	0.0069	30	c.305 others(45): Show c.305-917_305-916insGAGGGAAGGGGAGGGGAGGGGAGGGGAGGG	CPXM2	ENSG00000121898.13	transcript	ENST00000241305.4	protein_coding	1/13			chr10	TogoVar
CPXM2_chr10_123740639_123896807	123881232	T T	TCTTCCCT others(23): Show TCTTCCCTTCCCTTCCCTTCCCTTCCCTTCC	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19058.hp1 NA19000.hp1 NA19058.hp1	a0001 a0001	a0001c0004 a0001c0013 a0001c0004 a0001c0013	a0001c0004t0001 a0001c0013t0018 a0001c0004t0001 a0001c0013t0018	a0001c0004t0001g0212 a0001c0013t0018g0213 a0001c0004t0001g0212 a0001c0013t0018g0213	2	288	0.0069	30	c.305 others(45): Show c.305-953_305-924dupGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG	CPXM2	ENSG00000121898.13	transcript	ENST00000241305.4	protein_coding	1/13			chr10	TogoVar
CR1L_chr1_207640133_207728703	207683010	T T	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTTTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0285 a0004c0004t0001g0285	1	346	0.0029	30	c.378 others(45): Show c.378-861_378-860insCTTTCTTTCTTTCTTTTTTTCTTTCTTTCT	CR1L	ENSG00000197721.17	transcript	ENST00000508064.7	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1_chr1_207491157_207646765	207617507	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0129 a0002c0002t0001g0129	1	360	0.0028	30	c.689 others(47): Show c.6890-563_6890-562insATATATATATATATATATATATATATAT GT	CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	41/46		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1_chr1_207491157_207646765	207617507	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 NA18994.hp1 NA19002.hp1 HG00099.hp2 NA18994.hp1 NA19002.hp1	a0004 a0005 a0004 a0005	a0004c0004 a0005c0005 a0004c0004 a0005c0005	a0004c0004t0001 a0005c0005t0002 a0004c0004t0001 a0005c0005t0002	a0004c0004t0001g0098 a0005c0005t0002g0325 a0005c0005t0002g0350 a0004c0004t0001g0098 a0005c0005t0002g0325 a0005c0005t0002g0350	3	360	0.0083	30	c.689 others(47): Show c.6890-563_6890-562insATATATATATATATATATATATATATGT GT	CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	41/46		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1_chr1_207491157_207646765	207617507	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02486.hp1 HG03831.hp2 others(1): Show HG02027.hp2 HG02486.hp1 HG03831.hp2 NA18978.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0005 a0002c0002 a0005c0005	a0002c0002t0001 a0005c0005t0002 a0002c0002t0001 a0005c0005t0002	a0002c0002t0001g0168 a0002c0002t0001g0203 a0005c0005t0002g0313 others(1): Show a0002c0002t0001g0168 a0002c0002t0001g0203 a0005c0005t0002g0313 a0005c0005t0002g0332	4	360	0.0111	30	c.689 others(47): Show c.6890-563_6890-562insATATATATATATATATATATATATGTGT GT	CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	41/46		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1_chr1_207491157_207646765	207617507	A A	ATATATAT others(23): Show ATATATATATATATATATATATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02083.hp1 HG03654.hp2 others(1): Show HG01081.hp2 HG02083.hp1 HG03654.hp2 NA18980.hp2	a0002 a0004 a0005 a0002 a0004 a0005	a0002c0002 a0004c0004 a0005c0005 a0002c0002 a0004c0004 a0005c0005	a0002c0002t0001 a0004c0004t0003 a0005c0005t0002 a0002c0002t0001 a0004c0004t0003 a0005c0005t0002	a0002c0002t0001g0212 a0004c0004t0003g0116 a0005c0005t0002g0328 others(1): Show a0002c0002t0001g0212 a0004c0004t0003g0116 a0005c0005t0002g0328 a0005c0005t0002g0353	4	360	0.0111	30	c.689 others(47): Show c.6890-563_6890-562insATATATATATATATATATATATGTGTGT GT	CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	41/46		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1_chr1_207491157_207646765	207617507	A A	ATATATAT others(23): Show ATATATATATATATATATATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0122 a0004c0004t0001g0122	1	360	0.0028	30	c.689 others(47): Show c.6890-563_6890-562insATATATATATATATATATATGTGTGTGT GT	CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	41/46		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR2_chr1_207449328_207494892	207458075	C C	CACACACA others(23): Show CACACACACACACACATACACACACACACAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0187 a0001c0007t0003g0187	1	378	0.0027	30	c.58+ others(45): Show c.58+3614_58+3615insTACACACACACACATACACACACACACACA	CR2	ENSG00000117322.19	transcript	ENST00000367057.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR2_chr1_207449328_207494892	207458077	C C	CACACACA others(23): Show CACACACACACACACATACACACACACACAT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp2 NA19011.hp2 HG03491.hp2 HG03492.hp2 NA19011.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0181 a0001c0003t0001g0182 a0001c0003t0001g0183 a0001c0003t0001g0181 a0001c0003t0001g0182 a0001c0003t0001g0183	3	378	0.0079	30	c.58+ others(45): Show c.58+3616_58+3617insTACACACACACACATACACACACACACACA	CR2	ENSG00000117322.19	transcript	ENST00000367057.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
CRACDL_chr2_98788846_98941225	98795040	A A	AATATATA others(23): Show AATATATAAAAATTTATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	316	0.0032	30	c.275 others(47): Show c.2750-370_2750-369insATATATATATATATATAAATTTTTATAT AT	CRACDL	ENSG00000196872.12	transcript	ENST00000397899.7	protein_coding	9/9			chr2	TogoVar
CRACD_chr4_56044098_56335609	56070847	C C	CTGTGTGT others(23): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0007 a0005c0005t0007	a0005c0005t0007g0055 a0005c0005t0007g0055	1	250	0.0040	30	c.-33 others(51): Show c.-336+21562_-336+21591dupGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	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(23): Show AAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02572.hp1 HG02886.hp1 others(3): Show HG02148.hp1 HG02572.hp1 HG02886.hp1 HG03209.hp2 NA19043.hp2 NA21309.hp1	a0002 a0003 a0008 others(2): Show a0002 a0003 a0008 a0024 a0032	a0002c0006 a0003c0002 a0003c0007 others(3): Show a0002c0006 a0003c0002 a0003c0007 a0008c0010 a0024c0037 a0032c0044	a0002c0006t0001 a0003c0002t0002 a0003c0007t0005 others(3): Show a0002c0006t0001 a0003c0002t0002 a0003c0007t0005 a0008c0010t0008 a0024c0037t0001 a0032c0044t0001	a0002c0006t0001g0018 a0003c0002t0002g0079 a0003c0007t0005g0035 others(3): Show a0002c0006t0001g0018 a0003c0002t0002g0079 a0003c0007t0005g0035 a0008c0010t0008g0094 a0024c0037t0001g0104 a0032c0044t0001g0039	6	250	0.0240	30	c.-18 others(49): Show c.-189+3830_-189+3859dupTAAAATAAAATAAAATAAAATAAAAT AAAA	CRACD	ENSG00000109265.15	transcript	ENST00000682029.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CRACD_chr4_56044098_56335609	56273382	T T	TCCTTTCT others(23): Show TCCTTTCTTCCCTCTCTCTCCCCCACTTCTC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0111 a0003c0002t0002g0111	1	250	0.0040	30	c.-17 others(45): Show c.-17+903_-17+932dupCTCTCTCCCCCACTTCTCCCTTTCTTCCCT	CRACD	ENSG00000109265.15	transcript	ENST00000682029.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CRACD_chr4_56044098_56335609	56286525	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0047 a0003c0002t0002g0047	1	250	0.0040	30	c.-16 others(49): Show c.-16-11667_-16-11666insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	CRACD	ENSG00000109265.15	transcript	ENST00000682029.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CRACR2A_chr12_3610328_3758109	3639457	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02280.hp1 HG01361.hp1 HG02280.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0007 a0001c0001 a0008c0007	a0001c0001t0001 a0008c0007t0001 a0001c0001t0001 a0008c0007t0001	a0001c0001t0001g0202 a0008c0007t0001g0050 a0001c0001t0001g0202 a0008c0007t0001g0050	2	320	0.0063	30	c.127 others(49): Show c.1272-1004_1272-1003insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	CRACR2A	ENSG00000130038.10	transcript	ENST00000440314.7	protein_coding	13/19			chr12	TogoVar
CRACR2A_chr12_3610328_3758109	3745780	A A	AAAAATAA others(23): Show AAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02683.hp2 HG02895.hp1 others(11): Show HG01358.hp2 HG02683.hp2 HG02895.hp1 HG02897.hp1 HG03017.hp2 HG03139.hp1 HG03195.hp2 HG03516.hp1 HG03927.hp1 NA18957.hp1 NA18962.hp2 NA18964.hp2 NA18970.hp1 NA19086.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0003 a0004c0004 a0001c0001 a0003c0003 a0004c0004	a0001c0001t0001 a0003c0003t0001 a0004c0004t0001 a0001c0001t0001 a0003c0003t0001 a0004c0004t0001	a0001c0001t0001g0028 a0001c0001t0001g0094 a0001c0001t0001g0179 others(11): Show a0001c0001t0001g0028 a0001c0001t0001g0094 a0001c0001t0001g0179 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0199 a0001c0001t0001g0282 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0316 a0003c0003t0001g0031 a0004c0004t0001g0211	14	320	0.0438	30	c.-38 others(49): Show c.-387+7205_-387+7234dupATTTTATTTTATTTTATTTTATTTTA TTTT	CRACR2A	ENSG00000130038.10	transcript	ENST00000440314.7	protein_coding	1/19			chr12	TogoVar
CRAMP1_chr16_1607360_1682908	1614311	C C	CCCGGGGC others(23): Show CCCGGGGCCGGGGCCGGGGCCGGGGCCGGGG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0048 a0001c0001t0003g0048	1	332	0.0030	30	c.-1- others(43): Show c.-1-299_-1-298insGCCGGGGCCGGGGCCGGGGCCGGGGCCGGG	CRAMP1	ENSG00000007545.16	transcript	ENST00000397412.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CRB1_chr1_197263252_197483455	197319259	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG03486.hp2 NA18949.hp1 others(2): Show HG02056.hp2 HG03486.hp2 NA18949.hp1 NA19010.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0096 a0001c0001t0001g0099 others(2): Show a0001c0001t0001g0081 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0104 a0001c0001t0001g0108	5	186	0.0269	30	c.71- others(45): Show c.71-9144_71-9143insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CRB1	ENSG00000134376.17	transcript	ENST00000367400.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CREB3L2_chr7_137869979_138007086	137922384	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATGTA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01261.hp1 others(1): Show HG01070.hp1 HG01071.hp2 HG01261.hp1 HG01928.hp2	a0003 a0004 a0003 a0004	a0003c0003 a0004c0005 a0003c0003 a0004c0005	a0003c0003t0004 a0003c0003t0061 a0004c0005t0004 a0003c0003t0004 a0003c0003t0061 a0004c0005t0004	a0003c0003t0004g0164 a0003c0003t0004g0165 a0003c0003t0061g0125 others(1): Show a0003c0003t0004g0164 a0003c0003t0004g0165 a0003c0003t0061g0125 a0004c0005t0004g0166	4	288	0.0139	30	c.319 others(47): Show c.319+5765_319+5766insTACATATATATATATATATATATATATA TA	CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	2/11			chr7	TogoVar
CREB5_chr7_28407518_28830894	28486670	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG02257.hp1 others(2): Show HG01167.hp2 HG01169.hp1 HG02257.hp1 HG02809.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0032 a0001c0001t0001 a0001c0001t0002 a0001c0001t0032	a0001c0001t0001g0060 a0001c0001t0002g0027 a0001c0001t0002g0028 others(2): Show a0001c0001t0001g0060 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0174 a0001c0001t0032g0180	5	198	0.0253	30	c.4-1 others(43): Show c.4-1482_4-1481insATATATATATATATATATATATATATATAT	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28555109	T T	TTGTGTGT others(23): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	198	0.0051	30	c.292 others(49): Show c.292-15239_292-15238insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28560913	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGCGTGTGCGTGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	198	0.0051	30	c.292 others(47): Show c.292-9451_292-9450insTGTGTGTGTGCGTGTGCGTGCGCGCGCG CG	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28560963	T T	TGCGTGCG others(23): Show TGCGTGCGTGTGTGTGCGCGCGTGCGTGCGC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0017	1	198	0.0051	30	c.292 others(47): Show c.292-9401_292-9400insCGTGCGTGTGTGTGCGCGCGTGCGTGCG CG	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28712524	T T	TTTATTAT others(23): Show TTTATTATTATTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00741.hp1 HG01167.hp2 others(21): Show HG00558.hp1 HG00741.hp1 HG01167.hp2 HG01169.hp1 HG01192.hp1 HG01243.hp2 HG01496.hp2 HG01891.hp1 HG02004.hp1 HG02015.hp2 HG02135.hp2 HG02280.hp2 HG02572.hp2 HG02615.hp2 HG03098.hp1 HG03834.hp1 NA18957.hp2 NA19009.hp2 NA19030.hp1 NA19057.hp1 NA19240.hp1 NA20300.hp1 NA20752.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0018 a0001c0001t0021 a0001c0001t0022 a0001c0001t0034 a0001c0001t0044 a0001c0001t0047	a0001c0001t0001g0081 a0001c0001t0002g0018 a0001c0001t0002g0023 others(21): Show a0001c0001t0001g0081 a0001c0001t0002g0018 a0001c0001t0002g0023 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0113 a0001c0001t0002g0120 a0001c0001t0002g0143 a0001c0001t0002g0191 a0001c0001t0008g0014 a0001c0001t0008g0034 a0001c0001t0008g0063 a0001c0001t0008g0103 a0001c0001t0011g0133 a0001c0001t0011g0196 a0001c0001t0012g0141 a0001c0001t0013g0157 a0001c0001t0018g0184 a0001c0001t0021g0001 a0001c0001t0022g0066 a0001c0001t0022g0106 a0001c0001t0034g0111 a0001c0001t0044g0173 a0001c0001t0047g0100	24	198	0.1212	30	c.465 others(47): Show c.465-6206_465-6205insATTATTATTATTATTATTATTATTATTA TT	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28712524	T T	TTTTTTAT others(23): Show TTTTTTATTATTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01069.hp1 HG01167.hp1 others(2): Show HG00735.hp2 HG01069.hp1 HG01167.hp1 HG01433.hp1 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0056 a0001c0001t0003g0069 a0001c0001t0003g0135 others(2): Show a0001c0001t0003g0056 a0001c0001t0003g0069 a0001c0001t0003g0135 a0001c0001t0003g0198 a0001c0001t0006g0105	5	198	0.0253	30	c.465 others(47): Show c.465-6227_465-6226insTTTATTATTATTATTATTATTATTATTA TT	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28775543	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA18983.hp1 HG01884.hp2 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0109 a0001c0001t0007g0114 a0001c0001t0001g0109 a0001c0001t0007g0114	2	198	0.0101	30	c.703 others(49): Show c.703-28634_703-28633insATATATATATATATATATATATATAT ATAT	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CRISP2_chr6_49687359_49718543	49701610	G G	GTATATAT others(23): Show GTATATATGTATACATTATATATGTATACAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00738.hp2 HG01070.hp2 others(5): Show HG00280.hp1 HG00738.hp2 HG01070.hp2 HG01256.hp1 HG02523.hp2 HG03704.hp1 HG03834.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0043 a0001c0001t0001g0169 a0001c0001t0001g0170 others(4): Show a0001c0001t0001g0043 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0007g0183	8	410	0.0195	30	c.67- others(43): Show c.67-827_67-826insATGTATACATATATAATGTATACATATATA	CRISP2	ENSG00000124490.14	transcript	ENST00000339139.5	protein_coding	4/9			chr6	TogoVar
CRISP2_chr6_49687359_49718543	49701690	T T	TATGTATA others(23): Show TATGTATACATTATATATGTATACATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp1 HG02280.hp1 others(1): Show HG02055.hp1 HG02145.hp1 HG02280.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0044 a0001c0001t0001g0177 a0001c0001t0002g0176 a0001c0001t0001g0044 a0001c0001t0001g0177 a0001c0001t0002g0176	4	410	0.0098	30	c.67- others(43): Show c.67-907_67-906insTATATATGTATACATATATAATGTATACAT	CRISP2	ENSG00000124490.14	transcript	ENST00000339139.5	protein_coding	4/9			chr6	TogoVar
CRLF2_chrX_1185490_1217649	1189196	G G	GTGTGTGT others(23): Show GTGTGTGTATGTGTGTATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0004 a0004c0012t0004	a0004c0012t0004g0132 a0004c0012t0004g0132	1	167	0.0060	30	c.17 others(41): Show c.1700_*1701insTATATATATATATATACACACATACACACA	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding		1293		chrX	TogoVar
CRLF2_chrX_1185490_1217649	1189213	G G	GTGTGTAT others(23): Show GTGTGTATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02622.hp1 HG02572.hp1 HG02622.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0025 a0001c0002 a0003c0025	a0001c0002t0005 a0003c0025t0005 a0001c0002t0005 a0003c0025t0005	a0001c0002t0005g0106 a0003c0025t0005g0084 a0001c0002t0005g0106 a0003c0025t0005g0084	2	167	0.0120	30	c.16 others(41): Show c.1683_*1684insTATATATATATATATATATATATATACACA	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding		1276		chrX	TogoVar
CRMP1_chr4_5815764_5898086	5837678	T T	TAAATAAA others(23): Show TAAATAAAATAAAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0061 a0001c0008t0003g0061	1	314	0.0032	30	c.131 others(47): Show c.1311-773_1311-772insTATTTTATTTTATTTTATTTTATTTTAT TT	CRMP1	ENSG00000072832.15	transcript	ENST00000324989.12	protein_coding	9/13			chr4	TogoVar
CRMP1_chr4_5815764_5898086	5891175	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0307 a0001c0010t0001g0307	1	314	0.0032	30	c.381 others(47): Show c.381+1384_381+1413dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	CRMP1	ENSG00000072832.15	transcript	ENST00000324989.12	protein_coding	1/13			chr4	TogoVar
CRPPA_chr7_16082525_16426538	16389928	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18939.hp2 NA18906.hp1 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0017 a0001c0001t0002 a0001c0001t0017	a0001c0001t0002g0024 a0001c0001t0017g0010 a0001c0001t0002g0024 a0001c0001t0017g0010	2	290	0.0069	30	c.535 others(49): Show c.535-13688_535-13687insATATATATATTTTTTTTTTTTTTTTT TTTT	CRPPA	ENSG00000214960.11	transcript	ENST00000407010.7	protein_coding	2/9			chr7	TogoVar
CRTAC1_chr10_97860000_98035621	97900907	G G	GGTAGTGA others(23): Show GGTAGTGATTGGAGCCCGTAGCCCCTTTTCC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03486.hp2 HG02886.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0121 a0001c0001t0001g0020 a0001c0001t0001g0121	2	204	0.0098	30	c.113 others(47): Show c.1133+595_1133+596insGGAAAAGGGGCTACGGGCTCCAATCACT AC	CRTAC1	ENSG00000095713.14	transcript	ENST00000370597.8	protein_coding	8/14			chr10	TogoVar
CRTC1_chr19_18678680_18787333	18689583	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00738.hp2 HG01070.hp1 others(8): Show HG00735.hp2 HG00738.hp2 HG01070.hp1 HG01071.hp2 HG02165.hp1 HG03195.hp2 HG03516.hp2 HG03834.hp1 NA18906.hp1 NA18982.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0003t0002	a0001c0001t0001g0028 a0001c0001t0001g0075 a0001c0001t0001g0076 others(7): Show a0001c0001t0001g0028 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0107 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0006g0029 a0001c0001t0006g0074 a0001c0003t0002g0001 a0001c0003t0002g0030	11	274	0.0402	30	c.126 others(47): Show c.126+5758_126+5759insATATATATATATATATATATATATATGT AT	CRTC1	ENSG00000105662.16	transcript	ENST00000321949.13	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr19	TogoVar

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