Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CRACR2A_chr12_3610328_3758109	3613407	G G	GCGCGCAC others(7): Show GCGCGCACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG01515.hp1 HG01517.hp2 others(3): Show HG00597.hp2 HG01515.hp1 HG01517.hp2 HG03834.hp2 NA18940.hp2 NA18979.hp2	a0001 a0011 a0016 a0001 a0011 a0016	a0001c0001 a0011c0010 a0016c0015 a0001c0001 a0011c0010 a0016c0015	a0001c0001t0001 a0001c0001t0003 a0011c0010t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0011c0010t0001 a0016c0015t0001	a0001c0001t0001g0152 a0001c0001t0001g0226 a0001c0001t0003g0023 others(3): Show a0001c0001t0001g0152 a0001c0001t0001g0226 a0001c0001t0003g0023 a0001c0001t0003g0024 a0011c0010t0001g0119 a0016c0015t0001g0292	6	320	0.0188	14	c.19 others(25): Show c.1947_*1948insTGTGTGTGTGCGCG	CRACR2A	ENSG00000130038.10	transcript	ENST00000440314.7	protein_coding		1920		chr12	TogoVar
CRACR2A_chr12_3610328_3758109	3621648	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01109.hp1 HG01243.hp1 others(16): Show HG00738.hp1 HG01109.hp1 HG01243.hp1 HG01256.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG02155.hp1 HG02293.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG03579.hp2 HG06807.hp1 NA18962.hp1 NA19030.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0018 a0022	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0018c0030 a0022c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0002c0002t0001 a0003c0003t0001 a0004c0004t0001 a0018c0030t0002 a0022c0028t0001	a0001c0001t0001g0034 a0001c0001t0001g0058 a0001c0001t0001g0075 others(16): Show a0001c0001t0001g0034 a0001c0001t0001g0058 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0219 a0001c0001t0001g0297 a0001c0001t0002g0057 a0001c0001t0002g0304 a0001c0001t0002g0308 a0001c0001t0003g0016 a0001c0001t0005g0205 a0002c0002t0001g0234 a0003c0003t0001g0061 a0004c0004t0001g0104 a0018c0030t0002g0209 a0022c0028t0001g0254	19	320	0.0594	14	c.193 others(33): Show c.1933-2290_1933-2277dupTTTTTTTTTTTTTT	CRACR2A	ENSG00000130038.10	transcript	ENST00000440314.7	protein_coding	17/19			chr12	TogoVar
CRACR2A_chr12_3610328_3758109	3639457	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00642.hp2 others(20): Show HG00099.hp1 HG00099.hp2 HG00642.hp2 HG01071.hp2 HG01168.hp2 HG01884.hp1 HG01993.hp2 HG02257.hp1 HG02451.hp1 HG02622.hp1 HG02647.hp1 HG02717.hp2 HG02738.hp1 HG02886.hp1 HG02965.hp2 HG02970.hp2 HG03139.hp1 HG03486.hp2 NA18906.hp1 NA18954.hp1 NA19030.hp1 NA19240.hp2 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0014 a0018 a0026	a0001c0001 a0001c0023 a0002c0002 others(6): Show a0001c0001 a0001c0023 a0002c0002 a0003c0003 a0004c0004 a0005c0005 a0014c0016 a0018c0030 a0026c0022	a0001c0001t0001 a0001c0001t0002 a0001c0023t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0023t0001 a0002c0002t0001 a0003c0003t0001 a0004c0004t0001 a0005c0005t0001 a0014c0016t0001 a0018c0030t0002 a0026c0022t0001	a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 others(19): Show a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0102 a0001c0001t0001g0130 a0001c0001t0001g0147 a0001c0001t0001g0203 a0001c0001t0001g0303 a0001c0001t0001g0306 a0001c0001t0001g0312 a0001c0001t0001g0316 a0001c0001t0001g0318 a0001c0001t0002g0277 a0001c0023t0001g0309 a0002c0002t0001g0301 a0003c0003t0001g0133 a0004c0004t0001g0286 a0005c0005t0001g0307 a0014c0016t0001g0001 a0018c0030t0002g0209 a0026c0022t0001g0112	23	320	0.0719	14	c.127 others(33): Show c.1272-1017_1272-1004dupGTGTGTGTGTGTGT	CRACR2A	ENSG00000130038.10	transcript	ENST00000440314.7	protein_coding	13/19			chr12	TogoVar
CRACR2A_chr12_3610328_3758109	3666330	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02258.hp1 NA19240.hp1 HG01192.hp2 HG02258.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0099 a0001c0001t0002g0053 a0001c0001t0002g0097 a0001c0001t0001g0099 a0001c0001t0002g0053 a0001c0001t0002g0097	3	320	0.0094	14	c.672 others(31): Show c.672-6690_672-6677dupACACACACACACAC	CRACR2A	ENSG00000130038.10	transcript	ENST00000440314.7	protein_coding	7/19			chr12	TogoVar
CRACR2A_chr12_3610328_3758109	3666330	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01081.hp2 others(9): Show HG01069.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01167.hp2 HG01168.hp2 HG01346.hp1 HG02074.hp1 HG02683.hp1 HG02735.hp1 HG03491.hp1 homoSapiens_chm13v2.hp1	a0003 a0009 a0030 a0003 a0009 a0030	a0003c0003 a0009c0012 a0030c0027 a0003c0003 a0009c0012 a0030c0027	a0003c0003t0001 a0009c0012t0001 a0030c0027t0001 a0003c0003t0001 a0009c0012t0001 a0030c0027t0001	a0003c0003t0001g0091 a0003c0003t0001g0129 a0003c0003t0001g0133 others(9): Show a0003c0003t0001g0091 a0003c0003t0001g0129 a0003c0003t0001g0133 a0003c0003t0001g0140 a0003c0003t0001g0141 a0003c0003t0001g0142 a0003c0003t0001g0163 a0003c0003t0001g0279 a0003c0003t0001g0285 a0009c0012t0001g0096 a0009c0012t0001g0125 a0030c0027t0001g0266	12	320	0.0375	14	c.672 others(31): Show c.672-6677_672-6676insAAACACACACACAC	CRACR2A	ENSG00000130038.10	transcript	ENST00000440314.7	protein_coding	7/19			chr12	TogoVar
CRACR2A_chr12_3610328_3758109	3666358	T T	TGTGTGTG others(7): Show TGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02622.hp2 HG02723.hp2 others(1): Show HG02055.hp2 HG02622.hp2 HG02723.hp2 HG02886.hp2	a0001 a0017 a0023 a0001 a0017 a0023	a0001c0001 a0017c0013 a0023c0024 a0001c0001 a0017c0013 a0023c0024	a0001c0001t0001 a0017c0013t0001 a0023c0024t0001 a0001c0001t0001 a0017c0013t0001 a0023c0024t0001	a0001c0001t0001g0030 a0001c0001t0001g0058 a0017c0013t0001g0317 others(1): Show a0001c0001t0001g0030 a0001c0001t0001g0058 a0017c0013t0001g0317 a0023c0024t0001g0208	4	320	0.0125	14	c.672 others(31): Show c.672-6705_672-6704insGCACACACACACAC	CRACR2A	ENSG00000130038.10	transcript	ENST00000440314.7	protein_coding	7/19			chr12	TogoVar
CRACR2A_chr12_3610328_3758109	3745780	A A	AAAAATAA others(7): Show AAAAATAAAATAAAT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	320	0.0031	14	c.-38 others(33): Show c.-387+7234_-387+7235insATTTATTTTATTTT	CRACR2A	ENSG00000130038.10	transcript	ENST00000440314.7	protein_coding	1/19			chr12	TogoVar
CRACR2A_chr12_3610328_3758109	3745825	T T	TAAAATAA others(7): Show TAAAATAAAATAAAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00639.hp2 others(23): Show HG00099.hp2 HG00438.hp1 HG00639.hp2 HG00741.hp1 HG01167.hp1 HG01192.hp1 HG01361.hp2 HG01515.hp2 HG01884.hp2 HG01934.hp1 HG01952.hp1 HG01975.hp1 HG01981.hp2 HG02257.hp2 HG02293.hp2 HG02300.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp2 HG02965.hp2 HG03579.hp1 HG03834.hp2 NA18959.hp1 NA18990.hp1 NA18990.hp2 NA20805.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0007 a0010 a0011 a0018 a0019 a0022	a0001c0001 a0002c0002 a0002c0033 others(7): Show a0001c0001 a0002c0002 a0002c0033 a0003c0003 a0007c0008 a0010c0011 a0011c0010 a0018c0030 a0019c0032 a0022c0028	a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 others(9): Show a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0033t0006 a0003c0003t0001 a0007c0008t0001 a0007c0008t0003 a0010c0011t0002 a0011c0010t0001 a0018c0030t0002 a0019c0032t0002 a0022c0028t0001	a0001c0001t0001g0130 a0001c0001t0001g0169 a0001c0001t0001g0250 others(23): Show a0001c0001t0001g0130 a0001c0001t0001g0169 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0310 a0001c0001t0004g0006 a0002c0002t0001g0067 a0002c0002t0001g0081 a0002c0002t0001g0144 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0249 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0255 a0002c0033t0006g0007 a0003c0003t0001g0109 a0007c0008t0001g0084 a0007c0008t0001g0311 a0007c0008t0003g0026 a0010c0011t0002g0106 a0010c0011t0002g0108 a0011c0010t0001g0119 a0018c0030t0002g0209 a0019c0032t0002g0272 a0022c0028t0001g0254	26	320	0.0813	14	c.-38 others(33): Show c.-387+7189_-387+7190insCTTTATTTTATTTT	CRACR2A	ENSG00000130038.10	transcript	ENST00000440314.7	protein_coding	1/19			chr12	TogoVar
CRADD_chr12_93672375_93855756	93790912	G G	GACACACA others(7): Show GACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01099.hp2 HG01106.hp1 others(51): Show HG01071.hp2 HG01099.hp2 HG01106.hp1 HG01167.hp1 HG01943.hp2 HG01975.hp2 HG02258.hp1 HG02293.hp1 HG02451.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02630.hp1 HG02809.hp2 HG02970.hp1 HG02976.hp1 HG03130.hp1 HG03209.hp2 HG03540.hp1 HG03579.hp2 HG03704.hp1 HG03710.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18942.hp2 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18962.hp2 NA18968.hp2 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18981.hp1 NA18988.hp1 NA18988.hp2 NA18993.hp1 NA19002.hp2 NA19009.hp2 NA19011.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0003c0004 others(1): Show a0001c0001 a0001c0002 a0003c0004 a0004c0006	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0001c0002t0005 a0003c0004t0004 a0004c0006t0001	a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0017 others(51): Show a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0055 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0081 a0001c0001t0001g0090 a0001c0001t0001g0097 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0150 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0166 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0236 a0001c0001t0006g0133 a0001c0002t0001g0011 a0001c0002t0001g0031 a0001c0002t0001g0054 a0001c0002t0001g0059 a0001c0002t0001g0088 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0129 a0001c0002t0001g0142 a0001c0002t0001g0177 a0001c0002t0001g0192 a0001c0002t0001g0204 a0001c0002t0001g0211 a0001c0002t0001g0229 a0001c0002t0005g0089 a0003c0004t0004g0200 a0004c0006t0001g0195	54	248	0.2177	14	c.299 others(33): Show c.299-59043_299-59030dupACACACACACACAC	CRADD	ENSG00000169372.13	transcript	ENST00000332896.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
CRADD_chr12_93672375_93855756	93846581	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18978.hp1 NA19030.hp1 NA18971.hp1 NA18978.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0096 a0001c0001t0001g0247 a0001c0001t0001g0035 a0001c0001t0001g0096 a0001c0001t0001g0247	3	248	0.0121	14	c.299 others(31): Show c.299-3358_299-3345dupACACACACACACAC	CRADD	ENSG00000169372.13	transcript	ENST00000332896.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
CRADD_chr12_93672375_93855756	93846588	A A	ACACACAC others(7): Show ACACACACACGCGCG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02572.hp2 HG03540.hp1 others(1): Show HG02559.hp1 HG02572.hp2 HG03540.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0070 a0001c0001t0001g0072 others(1): Show a0001c0001t0001g0013 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0242	4	248	0.0161	14	c.299 others(31): Show c.299-3373_299-3372insGCGCGCACACACAC	CRADD	ENSG00000169372.13	transcript	ENST00000332896.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
CRAMP1_chr16_1607360_1682908	1677059	G G	GAGGGAGG others(7): Show GAGGGAGGAGGAAGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02723.hp1 HG02723.hp2 HG02809.hp2 others(6): Show HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02895.hp2 HG02897.hp2 HG03139.hp1 HG03209.hp2 HG06807.hp1 NA18522.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0272 a0001c0005t0005g0273 a0001c0005t0005g0274 others(6): Show a0001c0005t0005g0272 a0001c0005t0005g0273 a0001c0005t0005g0274 a0001c0005t0005g0275 a0001c0005t0005g0276 a0001c0005t0005g0277 a0001c0005t0005g0278 a0001c0005t0005g0279 a0001c0005t0005g0280	9	332	0.0271	14	c.30 others(25): Show c.3015_*3028dupAGGGAGGAGGAAGA	CRAMP1	ENSG00000007545.16	transcript	ENST00000397412.8	protein_coding	21/21	3029	INFO_REALIGN_3_PRIME	chr16	TogoVar
CRB1_chr1_197263252_197483455	197319259	T T	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01934.hp1 NA18965.hp2 NA18975.hp2 others(1): Show HG01934.hp1 NA18965.hp2 NA18975.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0128 others(1): Show a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0128 a0001c0002t0001g0185	4	186	0.0215	14	c.71- others(29): Show c.71-9157_71-9144dupAAAAAAAAAAAAAA	CRB1	ENSG00000134376.17	transcript	ENST00000367400.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CRB1_chr1_197263252_197483455	197319278	A A	AAAAAAAA others(7): Show AAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0167 a0001c0002t0001g0167	1	186	0.0054	14	c.71- others(29): Show c.71-9144_71-9143insAAAAAAAAAAAAAT	CRB1	ENSG00000134376.17	transcript	ENST00000367400.8	protein_coding	1/11			chr1	TogoVar
CRB2_chr9_123351197_123383753	123359430	G G	GTTTGTTT others(7): Show GTTTGTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0081 a0001c0005t0001g0081	1	432	0.0023	14	c.94+ others(29): Show c.94+3079_94+3080insGTTTTTTTTTTTTT	CRB2	ENSG00000148204.12	transcript	ENST00000373631.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr9	TogoVar
CRB2_chr9_123351197_123383753	123359430	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02895.hp2 HG02602.hp1 HG02895.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0008 a0001c0005t0001 a0001c0005t0008	a0001c0005t0001g0104 a0001c0005t0008g0080 a0001c0005t0001g0104 a0001c0005t0008g0080	2	432	0.0046	14	c.94+ others(29): Show c.94+3081_94+3082insTTTTTTTTTTTTTT	CRB2	ENSG00000148204.12	transcript	ENST00000373631.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr9	TogoVar
CRB2_chr9_123351197_123383753	123378798	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0045 a0001c0002t0002g0045	1	432	0.0023	14	c.17 others(25): Show c.1736_*1737insTTTTTTTTTTTTTT	CRB2	ENSG00000148204.12	transcript	ENST00000373631.8	protein_coding		46		chr9	TogoVar
CRBN_chr3_3145011_3184691	3150776	A A	ACTTAGGT others(7): Show ACTTAGGTATGTATC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0106 a0001c0001t0014g0106	1	376	0.0027	14	c.75 others(21): Show c.75_*88dupGATACATACCTAAG	CRBN	ENSG00000113851.16	transcript	ENST00000231948.9	protein_coding	11/11	88		chr3	TogoVar
CREB3L1_chr11_46272662_46326409	46305692	G G	GTGTGTGT others(7): Show GTGTGTGTGTATATA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01515.hp2 HG03654.hp1 others(2): Show HG01361.hp1 HG01515.hp2 HG03654.hp1 NA19082.hp1 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0018 a0002c0002t0002 a0001c0001t0001 a0001c0001t0018 a0002c0002t0002	a0001c0001t0001g0116 a0001c0001t0018g0246 a0002c0002t0002g0235 others(2): Show a0001c0001t0001g0116 a0001c0001t0018g0246 a0002c0002t0002g0235 a0002c0002t0002g0238 a0002c0002t0002g0252	5	304	0.0165	14	c.332 others(31): Show c.332-2115_332-2114insATATATGTGTGTGT	CREB3L1	ENSG00000157613.11	transcript	ENST00000621158.5	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
CREB3L2_chr7_137869979_138007086	137895642	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02109.hp2 HG02486.hp1 others(6): Show HG01099.hp2 HG02109.hp2 HG02486.hp1 HG02809.hp1 HG02970.hp2 HG03041.hp1 HG03209.hp2 HG03540.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0007 others(2): Show a0001c0001 a0001c0004 a0001c0007 a0002c0006 a0002c0008	a0001c0001t0005 a0001c0001t0008 a0001c0004t0067 others(6): Show a0001c0001t0005 a0001c0001t0008 a0001c0004t0067 a0001c0007t0015 a0001c0007t0066 a0002c0006t0015 a0002c0006t0043 a0002c0008t0008 a0002c0008t0041	a0001c0001t0005g0030 a0001c0001t0008g0112 a0001c0004t0067g0286 others(6): Show a0001c0001t0005g0030 a0001c0001t0008g0112 a0001c0004t0067g0286 a0001c0007t0015g0120 a0001c0007t0066g0239 a0002c0006t0015g0014 a0002c0006t0043g0076 a0002c0008t0008g0007 a0002c0008t0041g0272	9	288	0.0313	14	c.104 others(33): Show c.1043+5711_1043+5712insTTTTTTTTTTTTTT	CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	8/11			chr7	TogoVar
CREB3L2_chr7_137869979_138007086	137899041	A A	AAAAAAGA others(7): Show AAAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00673.hp2 others(58): Show HG00140.hp2 HG00408.hp2 HG00673.hp2 HG01074.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01258.hp2 HG01358.hp2 HG01884.hp2 HG01891.hp2 HG01978.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG06807.hp2 NA18944.hp1 NA18955.hp1 NA18964.hp2 NA19002.hp2 NA19010.hp1 NA19030.hp1 NA19054.hp2 NA19240.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0004 a0001c0007 others(5): Show a0001c0001 a0001c0004 a0001c0007 a0001c0011 a0002c0002 a0002c0006 a0003c0003 a0006c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0016 a0001c0001t0020 a0001c0001t0025 a0001c0001t0046 a0001c0001t0055 a0001c0001t0058 a0001c0001t0063 a0001c0004t0008 a0001c0004t0010 a0001c0004t0016 a0001c0004t0017 a0001c0004t0019 a0001c0004t0030 a0001c0004t0031 a0001c0004t0056 a0001c0007t0019 a0001c0007t0028 a0001c0007t0066 a0001c0011t0012 a0002c0002t0001 a0002c0002t0005 a0002c0002t0018 a0002c0002t0032 a0002c0002t0052 a0002c0002t0069 a0002c0006t0017 a0003c0003t0001 a0003c0003t0014 a0006c0012t0065	a0001c0001t0001g0090 a0001c0001t0001g0101 a0001c0001t0001g0110 others(57): Show a0001c0001t0001g0090 a0001c0001t0001g0101 a0001c0001t0001g0110 a0001c0001t0001g0175 a0001c0001t0001g0236 a0001c0001t0002g0142 a0001c0001t0003g0055 a0001c0001t0005g0002 a0001c0001t0005g0016 a0001c0001t0005g0030 a0001c0001t0005g0035 a0001c0001t0005g0271 a0001c0001t0008g0210 a0001c0001t0008g0214 a0001c0001t0009g0174 a0001c0001t0012g0062 a0001c0001t0012g0119 a0001c0001t0012g0121 a0001c0001t0012g0223 a0001c0001t0016g0031 a0001c0001t0016g0275 a0001c0001t0020g0053 a0001c0001t0020g0277 a0001c0001t0020g0279 a0001c0001t0025g0249 a0001c0001t0046g0276 a0001c0001t0055g0026 a0001c0001t0058g0064 a0001c0001t0063g0068 a0001c0004t0008g0173 a0001c0004t0010g0078 a0001c0004t0010g0162 a0001c0004t0010g0200 a0001c0004t0010g0278 a0001c0004t0010g0280 a0001c0004t0016g0157 a0001c0004t0017g0240 a0001c0004t0019g0017 a0001c0004t0019g0080 a0001c0004t0030g0191 a0001c0004t0030g0281 a0001c0004t0031g0009 a0001c0004t0031g0111 a0001c0004t0056g0250 a0001c0007t0019g0154 a0001c0007t0028g0222 a0001c0007t0066g0239 a0001c0011t0012g0263 a0002c0002t0001g0266 a0002c0002t0005g0041 a0002c0002t0018g0032 a0002c0002t0018g0156 a0002c0002t0032g0037 a0002c0002t0052g0085 a0002c0002t0069g0285 a0002c0006t0017g0011 a0003c0003t0001g0084 a0003c0003t0001g0254 a0003c0003t0014g0135 a0006c0012t0065g0252	61	288	0.2118	14	c.104 others(33): Show c.1043+2299_1043+2312dupCTTTCTTTCTTTTT	CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	8/11			chr7	TogoVar
CREB3L2_chr7_137869979_138007086	137946852	T T	TTATATAT others(7): Show TTATATATATAGTTA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0009 a0001c0007t0009	a0001c0007t0009g0246 a0001c0007t0009g0246	1	288	0.0035	14	c.103 others(33): Show c.103-18487_103-18486insTAACTATATATATA	CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	1/11			chr7	TogoVar
CREB3L2_chr7_137869979_138007086	137946856	C C	CTATATAT others(7): Show CTATATATAGTTATA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03130.hp1 HG02257.hp2 HG03130.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0009 a0004c0005t0004 a0001c0001t0009 a0004c0005t0004	a0001c0001t0009g0174 a0004c0005t0004g0116 a0001c0001t0009g0174 a0004c0005t0004g0116	2	288	0.0069	14	c.103 others(33): Show c.103-18491_103-18490insTATAACTATATATA	CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	1/11			chr7	TogoVar
CREB3L2_chr7_137869979_138007086	137946892	A A	ATATATAT others(7): Show ATATATATAGTTATC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0017 a0002c0006t0017	a0002c0006t0017g0011 a0002c0006t0017g0011	1	288	0.0035	14	c.103 others(33): Show c.103-18527_103-18526insGATAACTATATATA	CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	1/11			chr7	TogoVar
CREB3L2_chr7_137869979_138007086	137946900	T T	TTATATAT others(7): Show TTATATATATAGTTA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	288	0.0035	14	c.103 others(33): Show c.103-18548_103-18535dupTAACTATATATATA	CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	1/11			chr7	TogoVar
CREB3L2_chr7_137869979_138007086	137946924	T T	TTATATAT others(7): Show TTATATATATAGTTA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0029 a0004c0005t0029	a0004c0005t0029g0184 a0004c0005t0029g0184	1	288	0.0035	14	c.103 others(33): Show c.103-18572_103-18559dupTAACTATATATATA	CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	1/11			chr7	TogoVar
CREB3L2_chr7_137869979_138007086	137946988	T T	TTATATAT others(7): Show TTATATATATAGTTA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0048 a0001c0004t0048	a0001c0004t0048g0019 a0001c0004t0048g0019	1	288	0.0035	14	c.103 others(33): Show c.103-18636_103-18623dupTAACTATATATATA	CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	1/11			chr7	TogoVar
CREB3L2_chr7_137869979_138007086	137969761	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02055.hp1 HG02055.hp2 others(9): Show HG00741.hp2 HG02055.hp1 HG02055.hp2 HG02622.hp2 HG02818.hp1 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03195.hp2 NA18906.hp1 NA19043.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0006 a0001c0001 a0001c0004 a0002c0006	a0001c0001t0007 a0001c0001t0016 a0001c0004t0001 others(6): Show a0001c0001t0007 a0001c0001t0016 a0001c0004t0001 a0001c0004t0003 a0001c0004t0010 a0001c0004t0031 a0002c0006t0015 a0002c0006t0017 a0002c0006t0023	a0001c0001t0007g0077 a0001c0001t0016g0031 a0001c0004t0001g0100 others(9): Show a0001c0001t0007g0077 a0001c0001t0016g0031 a0001c0004t0001g0100 a0001c0004t0003g0102 a0001c0004t0010g0078 a0001c0004t0010g0278 a0001c0004t0010g0280 a0001c0004t0031g0009 a0001c0004t0031g0111 a0002c0006t0015g0014 a0002c0006t0017g0020 a0002c0006t0023g0219	12	288	0.0417	14	c.102 others(33): Show c.102+31829_102+31842dupGTGTGTGTGTGTGT	CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	1/11			chr7	TogoVar
CREB3L2_chr7_137869979_138007086	137969791	C C	CACACACA others(7): Show CACACACATACACAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01361.hp1 HG01515.hp2 others(9): Show HG01069.hp2 HG01361.hp1 HG01515.hp2 HG02148.hp2 HG02257.hp1 HG02698.hp1 HG02895.hp1 HG02897.hp2 HG02970.hp2 HG03516.hp1 NA18979.hp2 NA19056.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0008 others(1): Show a0001c0001 a0001c0004 a0002c0008 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0025 a0001c0001t0026 a0001c0004t0059 a0002c0008t0022 a0003c0003t0001	a0001c0001t0001g0059 a0001c0001t0001g0117 a0001c0001t0001g0145 others(9): Show a0001c0001t0001g0059 a0001c0001t0001g0117 a0001c0001t0001g0145 a0001c0001t0002g0225 a0001c0001t0003g0070 a0001c0001t0005g0030 a0001c0001t0025g0249 a0001c0001t0026g0146 a0001c0004t0059g0094 a0002c0008t0022g0033 a0002c0008t0022g0034 a0003c0003t0001g0131	12	288	0.0417	14	c.102 others(33): Show c.102+31812_102+31813insATGTGTATGTGTGT	CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	1/11			chr7	TogoVar
CREB3L2_chr7_137869979_138007086	137999379	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18984.hp1 NA18995.hp1 others(3): Show NA18944.hp2 NA18984.hp1 NA18995.hp1 NA18995.hp2 NA19057.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0050 a0001c0001t0001g0074 a0001c0001t0001g0075 others(3): Show a0001c0001t0001g0050 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0151 a0001c0001t0003g0073 a0001c0001t0003g0109	6	288	0.0208	14	c.102 others(31): Show c.102+2211_102+2224dupGTGTGTGTGTGTGT	CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	1/11			chr7	TogoVar
CREB3L2_chr7_137869979_138007086	138001082	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18950.hp2 NA18990.hp2 HG02027.hp1 NA18950.hp2 NA18990.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0027 a0002c0002t0003 a0002c0002t0021 a0001c0001t0027 a0002c0002t0003 a0002c0002t0021	a0001c0001t0027g0039 a0002c0002t0003g0040 a0002c0002t0021g0038 a0001c0001t0027g0039 a0002c0002t0003g0040 a0002c0002t0021g0038	3	288	0.0104	14	c.102 others(29): Show c.102+508_102+521dupGTGTGTGTGTGTGT	CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	1/11			chr7	TogoVar
CREB3L3_chr19_4148631_4178054	4167494	A A	AAGAGAAA others(7): Show AAGAGAAAGAGAAAG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG00639.hp2 others(80): Show HG00423.hp1 HG00544.hp2 HG00639.hp2 HG00673.hp2 HG00735.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01123.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01361.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02056.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02148.hp2 HG02155.hp2 HG02258.hp1 HG02293.hp2 HG02523.hp1 HG02698.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG03195.hp1 HG03491.hp1 HG03492.hp1 HG03669.hp2 HG03710.hp2 HG03834.hp2 NA18612.hp1 NA18612.hp2 NA18940.hp2 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18984.hp1 NA18993.hp2 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA19011.hp2 NA19012.hp1 NA19062.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19070.hp2 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19081.hp2 NA19085.hp1 NA19087.hp1 NA19091.hp1 NA20300.hp1 NA20905.hp2 NA21309.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0003c0006 others(1): Show a0001c0001 a0001c0002 a0003c0006 a0004c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0002t0001 a0003c0006t0002 a0004c0014t0002	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0078 others(71): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0158 a0001c0001t0001g0163 a0001c0001t0001g0194 a0001c0001t0001g0207 a0001c0001t0001g0250 a0001c0001t0001g0269 a0001c0001t0001g0279 a0001c0001t0001g0340 a0001c0001t0001g0343 a0001c0001t0001g0348 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0014 a0001c0001t0002g0016 a0001c0001t0002g0020 a0001c0001t0002g0064 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0164 a0001c0001t0002g0177 a0001c0001t0002g0190 a0001c0001t0002g0193 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0247 a0001c0001t0002g0249 a0001c0001t0002g0253 a0001c0001t0002g0258 a0001c0001t0002g0264 a0001c0001t0002g0267 a0001c0001t0002g0280 a0001c0001t0002g0291 a0001c0001t0002g0313 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0342 a0001c0001t0005g0104 a0001c0001t0005g0105 a0001c0001t0008g0094 a0001c0001t0008g0111 a0001c0002t0001g0065 a0001c0002t0001g0261 a0003c0006t0002g0277 a0004c0014t0002g0300	83	404	0.2055	14	c.715 others(29): Show c.715-845_715-832dupAAGAGAGAAAGAGA	CREB3L3	ENSG00000060566.14	transcript	ENST00000078445.7	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
CREB5_chr7_28407518_28830894	28413092	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG03098.hp2 HG01934.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0003 a0001c0001t0011	a0001c0001t0003g0198 a0001c0001t0011g0197 a0001c0001t0003g0198 a0001c0001t0011g0197	2	198	0.0101	14	c.3+1 others(25): Show c.3+196_3+209dupTGTGTGTGTGTGTG	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28486670	T T	TTAAATAT others(7): Show TTAAATATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03195.hp2 NA19043.hp2 HG02630.hp2 HG03195.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0012 a0001c0001t0002 a0001c0001t0010 a0001c0001t0012	a0001c0001t0002g0165 a0001c0001t0010g0171 a0001c0001t0012g0154 a0001c0001t0002g0165 a0001c0001t0010g0171 a0001c0001t0012g0154	3	198	0.0152	14	c.4-1 others(27): Show c.4-1503_4-1502insAATATATATATATA	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28486670	T T	TTATATAT others(7): Show TTATATATATATATA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0189 a0001c0001t0003g0189	1	198	0.0051	14	c.4-1 others(27): Show c.4-1495_4-1482dupATATATATATATAT	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28524316	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	198	0.0051	14	c.291 others(33): Show c.291+16610_291+16623dupACACACACACACAC	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28555109	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00639.hp1 others(56): Show HG00099.hp2 HG00408.hp2 HG00639.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01081.hp1 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01361.hp2 HG01433.hp2 HG01515.hp2 HG01884.hp2 HG01891.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp2 HG02135.hp1 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03453.hp2 HG03516.hp1 HG03516.hp2 HG04115.hp2 HG04184.hp1 NA18522.hp1 NA18522.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp2 NA20300.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0019 a0001c0001t0020 a0001c0001t0025 a0001c0001t0026 a0001c0001t0029 a0001c0001t0036 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0053 a0001c0002t0051 a0001c0003t0031	a0001c0001t0001g0013 a0001c0001t0001g0078 a0001c0001t0001g0081 others(56): Show a0001c0001t0001g0013 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0109 a0001c0001t0002g0017 a0001c0001t0002g0033 a0001c0001t0002g0094 a0001c0001t0002g0116 a0001c0001t0002g0120 a0001c0001t0002g0136 a0001c0001t0002g0140 a0001c0001t0002g0143 a0001c0001t0002g0158 a0001c0001t0002g0191 a0001c0001t0003g0065 a0001c0001t0003g0112 a0001c0001t0003g0148 a0001c0001t0003g0186 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0004g0020 a0001c0001t0004g0082 a0001c0001t0004g0149 a0001c0001t0004g0175 a0001c0001t0005g0026 a0001c0001t0005g0095 a0001c0001t0005g0159 a0001c0001t0005g0163 a0001c0001t0005g0164 a0001c0001t0005g0172 a0001c0001t0007g0195 a0001c0001t0008g0063 a0001c0001t0009g0161 a0001c0001t0009g0178 a0001c0001t0010g0144 a0001c0001t0010g0145 a0001c0001t0010g0146 a0001c0001t0011g0197 a0001c0001t0012g0119 a0001c0001t0012g0154 a0001c0001t0013g0093 a0001c0001t0015g0162 a0001c0001t0015g0190 a0001c0001t0019g0021 a0001c0001t0019g0024 a0001c0001t0020g0169 a0001c0001t0025g0080 a0001c0001t0026g0182 a0001c0001t0029g0110 a0001c0001t0036g0179 a0001c0001t0041g0121 a0001c0001t0042g0134 a0001c0001t0043g0156 a0001c0001t0046g0019 a0001c0001t0047g0100 a0001c0001t0048g0061 a0001c0001t0053g0030 a0001c0002t0051g0047 a0001c0003t0031g0160	59	198	0.2980	14	c.292 others(33): Show c.292-15252_292-15239dupGTGTGTGTGTGTGT	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28560909	C C	CATGCGCG others(7): Show CATGCGCGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02970.hp2 HG03017.hp1 others(1): Show HG00099.hp2 HG02970.hp2 HG03017.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0043 a0001c0001t0047 a0001c0001t0003 a0001c0001t0043 a0001c0001t0047	a0001c0001t0003g0112 a0001c0001t0003g0148 a0001c0001t0043g0156 others(1): Show a0001c0001t0003g0112 a0001c0001t0003g0148 a0001c0001t0043g0156 a0001c0001t0047g0100	4	198	0.0202	14	c.292 others(31): Show c.292-9456_292-9455insATGCGCGTGTGTGT	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	4/10			chr7	TogoVar
CREB5_chr7_28407518_28830894	28560911	T T	TGCGCGTG others(7): Show TGCGCGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01168.hp2 HG01192.hp1 others(5): Show HG00741.hp2 HG01168.hp2 HG01192.hp1 HG01258.hp2 HG01515.hp2 HG02602.hp2 HG02698.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0021 a0001c0001t0025	a0001c0001t0001g0058 a0001c0001t0001g0081 a0001c0001t0003g0186 others(5): Show a0001c0001t0001g0058 a0001c0001t0001g0081 a0001c0001t0003g0186 a0001c0001t0003g0188 a0001c0001t0007g0059 a0001c0001t0007g0195 a0001c0001t0021g0090 a0001c0001t0025g0080	8	198	0.0404	14	c.292 others(31): Show c.292-9453_292-9452insCGCGTGTGTGTGCG	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28580429	C C	CCACACAC others(7): Show CCACACACACACACA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG04204.hp1 HG00639.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0033 a0001c0001t0003 a0001c0001t0033	a0001c0001t0003g0150 a0001c0001t0033g0068 a0001c0001t0003g0150 a0001c0001t0033g0068	2	198	0.0101	14	c.464 others(31): Show c.464+9913_464+9926dupCACACACACACACA	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28638264	G G	GACACACA others(7): Show GACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	198	0.0051	14	c.464 others(33): Show c.464+67744_464+67757dupACACACACACACAC	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28642987	T T	TACACACA others(7): Show TACACACATACACAC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01106.hp2 HG01192.hp2 others(4): Show HG00735.hp1 HG01106.hp2 HG01192.hp2 HG02280.hp1 HG02559.hp1 HG02630.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0053	a0001c0001t0001g0187 a0001c0001t0002g0139 a0001c0001t0002g0155 others(4): Show a0001c0001t0001g0187 a0001c0001t0002g0139 a0001c0001t0002g0155 a0001c0001t0002g0165 a0001c0001t0003g0065 a0001c0001t0006g0052 a0001c0001t0053g0030	7	198	0.0354	14	c.464 others(33): Show c.464+72457_464+72458insTACACACACACACA	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28642989	C C	CACACACA others(7): Show CACACACACACACAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0076 a0001c0001t0049g0076	1	198	0.0051	14	c.464 others(33): Show c.464+72465_464+72466insTACACACACACACA	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28816055	G G	GCACACAC others(7): Show GCACACACACACACA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0119 a0001c0001t0012g0119	1	198	0.0051	14	c.125 others(33): Show c.1255-1999_1255-1986dupCACACACACACACA	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREBBP_chr16_3720054_3885713	3768136	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02004.hp1 NA20129.hp1 HG02004.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0002 a0001c0007t0002 a0001c0002t0002 a0001c0007t0002	a0001c0002t0002g0217 a0001c0007t0002g0218 a0001c0002t0002g0217 a0001c0007t0002g0218	2	286	0.0070	14	c.306 others(31): Show c.3061-241_3061-228dupAAAAAAAAAAAAAA	CREBBP	ENSG00000005339.15	transcript	ENST00000262367.10	protein_coding	15/30			chr16	TogoVar
CREBBP_chr16_3720054_3885713	3787070	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03225.hp2 HG02145.hp1 HG03225.hp2	a0001 a0001	a0001c0004 a0001c0007 a0001c0004 a0001c0007	a0001c0004t0006 a0001c0007t0018 a0001c0004t0006 a0001c0007t0018	a0001c0004t0006g0228 a0001c0007t0018g0225 a0001c0004t0006g0228 a0001c0007t0018g0225	2	286	0.0070	14	c.133 others(33): Show c.1331-4158_1331-4145dupTTTTTTTTTTTTTT	CREBBP	ENSG00000005339.15	transcript	ENST00000262367.10	protein_coding	5/30			chr16	TogoVar
CREBBP_chr16_3720054_3885713	3849378	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG06807.hp1 NA18747.hp1 HG02965.hp1 HG06807.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0009 a0001c0001t0001 a0001c0007t0009	a0001c0001t0001g0033 a0001c0001t0001g0227 a0001c0007t0009g0237 a0001c0001t0001g0033 a0001c0001t0001g0227 a0001c0007t0009g0237	3	286	0.0105	14	c.798 others(29): Show c.798+905_798+918dupACACACACACACAC	CREBBP	ENSG00000005339.15	transcript	ENST00000262367.10	protein_coding	2/30			chr16	TogoVar
CREBBP_chr16_3720054_3885713	3851860	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02486.hp1 HG03041.hp1 others(1): Show HG02451.hp2 HG02486.hp1 HG03041.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0024 a0001c0001t0004 a0001c0001t0024	a0001c0001t0004g0240 a0001c0001t0004g0243 a0001c0001t0004g0245 others(1): Show a0001c0001t0004g0240 a0001c0001t0004g0243 a0001c0001t0004g0245 a0001c0001t0024g0268	4	286	0.0140	14	c.86- others(27): Show c.86-865_86-852dupTTTTTTTTTTTTTT	CREBBP	ENSG00000005339.15	transcript	ENST00000262367.10	protein_coding	1/30			chr16	TogoVar
CREBL2_chr12_12606876_12650108	12617643	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0122 a0001c0001t0002g0122	1	372	0.0027	14	c.15+ others(29): Show c.15+5481_15+5494dupTTTTTTTTTTTTTT	CREBL2	ENSG00000111269.3	transcript	ENST00000228865.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr12	TogoVar
CREBL2_chr12_12606876_12650108	12632068	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0322 a0001c0001t0008g0322	1	372	0.0027	14	c.16- others(29): Show c.16-3695_16-3682dupTTTTTTTTTTTTTT	CREBL2	ENSG00000111269.3	transcript	ENST00000228865.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr12	TogoVar

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