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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
CPO_chr2_206934518_206974474	206945287	A A	ACTCAGTA others(25): Show ACTCAGTATCACTATACAAAAGTTTGTACCCCT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00423.hp1 others(79): Show HG00140.hp2 HG00280.hp1 HG00423.hp1 HG00558.hp1 HG00597.hp1 HG00621.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp2 HG01069.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01167.hp1 HG01243.hp2 HG01261.hp2 HG01346.hp1 HG01433.hp1 HG01433.hp2 HG01516.hp2 HG01517.hp1 HG02056.hp1 HG02109.hp1 HG02129.hp1 HG02135.hp2 HG02523.hp1 HG02622.hp2 HG02723.hp2 HG02809.hp1 HG02965.hp2 HG03130.hp1 HG03209.hp1 HG03453.hp1 HG03490.hp1 HG03579.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG04184.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18943.hp1 NA18944.hp2 NA18947.hp1 NA18951.hp1 NA18951.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp2 NA18960.hp2 NA18962.hp1 NA18967.hp2 NA18970.hp1 NA18975.hp1 NA18979.hp2 NA18982.hp2 NA18983.hp2 NA18986.hp2 NA18991.hp2 NA19000.hp1 NA19001.hp1 NA19002.hp2 NA19054.hp1 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19063.hp2 NA19064.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19075.hp1 NA19078.hp1 NA19080.hp1 NA19086.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA20805.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0002c0003 others(2): Show a0001c0001 a0002c0002 a0002c0003 a0003c0005 a0004c0009	a0001c0001t0001 a0002c0002t0001 a0002c0003t0001 others(2): Show a0001c0001t0001 a0002c0002t0001 a0002c0003t0001 a0003c0005t0001 a0004c0009t0001	a0001c0001t0001g0005 a0001c0001t0001g0051 a0001c0001t0001g0052 others(62): Show a0001c0001t0001g0005 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0252 a0001c0001t0001g0260 a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0007 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0080 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0162 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0169 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0177 a0002c0002t0001g0250 a0002c0002t0001g0253 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0258 a0002c0002t0001g0279 a0002c0002t0001g0308 a0002c0002t0001g0331 a0002c0003t0001g0079 a0002c0003t0001g0081 a0003c0005t0001g0075 a0004c0009t0001g0020 a0004c0009t0001g0160	82	422	0.1943	32	c.69- others(47): Show c.69-4299_69-4298insTCTCAGTATCACTATACAAAAGTTTGTACC CC	CPO	ENSG00000144410.5	transcript	ENST00000272852.4	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CPPED1_chr16_12654799_12808887	12766256	T T	TATATATA others(25): Show TATATATATATATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	290	0.0035	32	c.289 others(51): Show c.289+14928_289+14929insCTCTCTCTCTATATATATATATATAT ATATAT	CPPED1	ENSG00000103381.12	transcript	ENST00000381774.9	protein_coding	2/3			chr16	TogoVar
CPPED1_chr16_12654799_12808887	12766256	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATAGAG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0065 a0002c0002t0065	a0002c0002t0065g0003 a0002c0002t0065g0003	1	290	0.0035	32	c.289 others(51): Show c.289+14928_289+14929insCTCTATATATATATATATATATATAT ATATAT	CPPED1	ENSG00000103381.12	transcript	ENST00000381774.9	protein_coding	2/3			chr16	TogoVar
CPQ_chr8_96640242_97148501	96737355	G G	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02055.hp1 HG02280.hp2 others(3): Show HG01261.hp2 HG02055.hp1 HG02280.hp2 HG02717.hp2 HG02886.hp2 HG03453.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0001 a0001c0002t0001 a0003c0005t0001 a0001c0001t0001 a0001c0002t0001 a0003c0005t0001	a0001c0001t0001g0009 a0001c0001t0001g0041 a0001c0002t0001g0005 others(3): Show a0001c0001t0001g0009 a0001c0001t0001g0041 a0001c0002t0001g0005 a0001c0002t0001g0040 a0001c0002t0001g0122 a0003c0005t0001g0007	6	126	0.0476	32	c.-34 others(51): Show c.-34-47495_-34-47494insATATATATATATATATATATATATAT ATATAT	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPSF2_chr14_92116969_92177145	92173331	A A	ATATATAT others(25): Show ATATATATATATACACACACGTATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0074 a0001c0001t0074	a0001c0001t0074g0038 a0001c0001t0074g0038	1	388	0.0026	32	c.11 others(45): Show c.11587_*11588insTATATATATATACACACACGTATATATATATG	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding		1187		chr14	TogoVar
CPSF2_chr14_92116969_92177145	92173388	T T	TATATATG others(25): Show TATATATGTATATATATATGTATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0039 a0001c0001t0052g0039	1	388	0.0026	32	c.11 others(45): Show c.11644_*11645insATATATGTATATATATATGTATATATATATAC	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding		1244		chr14	TogoVar
CPSF4_chr7_99433943_99462373	99440674	A A	ATATATAT others(25): Show ATATATATATATATATATATATATGTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	364	0.0028	32	c.103 others(49): Show c.103+1490_103+1491insATATATATATATATATATATATGTTTTT TTTT	CPSF4	ENSG00000160917.15	transcript	ENST00000292476.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPT1C_chr19_49686116_49718731	49703587	C C	CCTTCCCT others(25): Show CCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01069.hp2 HG01071.hp2 others(6): Show HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01258.hp1 HG01993.hp2 HG02738.hp2 HG03492.hp2 HG03831.hp2 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0004t0002 a0001c0002t0002 a0001c0004t0002	a0001c0002t0002g0010 a0001c0002t0002g0192 a0001c0002t0002g0199 others(5): Show a0001c0002t0002g0010 a0001c0002t0002g0192 a0001c0002t0002g0199 a0001c0002t0002g0201 a0001c0002t0002g0204 a0001c0002t0002g0206 a0001c0004t0002g0191 a0001c0004t0002g0202	9	350	0.0257	32	c.694 others(49): Show c.694-1122_694-1121insTTCCCTTCCTTCCTTCCTTCCTTCCTTC CTTC	CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
CPTP_chr1_1319802_1333896	1324163	G G	GGGAGCTG others(25): Show GGGAGCTGGGGGGCTGAGGGTCTGCGGGGCTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	1	378	0.0027	32	c.-10 others(43): Show c.-1015_-1014insGGAGCTGGGGGGCTGAGGGTCTGCGGGGCTGA	CPTP	ENSG00000224051.7	transcript	ENST00000343938.9	protein_coding		638		chr1	TogoVar
CPVL_chr7_28990235_29151537	28997783	G G	GCCCTCTG others(25): Show GCCCTCTGAGGTTTATTGACACCTCTCAATAGC	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0011 a0003c0003t0001g0011	1	282	0.0036	32	c.132 others(51): Show c.1321-1902_1321-1901insGCTATTGAGAGGTGTCAATAAACCTC AGAGGG	CPVL	ENSG00000106066.15	transcript	ENST00000265394.10	protein_coding	12/12			chr7	TogoVar
CPXM1_chr20_2789074_2805627	2792412	A A	AACCTGGG others(25): Show AACCTGGGTTATGGGTCCCTGAGTGTGCTCTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	454	0.0022	32	c.17 others(43): Show c.1777_*1778insACAGAGCACACTCAGGGACCCATAACCCAGGT	CPXM1	ENSG00000088882.8	transcript	ENST00000380605.3	protein_coding		1661		chr20	TogoVar
CPZ_chr4_8587765_8624752	8605322	T T	TCATCCAT others(25): Show TCATCCATCTATCCATCCATCCATCCATCCATC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0044 a0001c0044	a0001c0044t0002 a0001c0044t0002	a0001c0044t0002g0206 a0001c0044t0002g0206	1	442	0.0023	32	c.710 others(47): Show c.710-659_710-658insTATCCATCCATCCATCCATCCATCCATCCA TC	CPZ	ENSG00000109625.19	transcript	ENST00000360986.9	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CPZ_chr4_8587765_8624752	8605634	T T	TATCCATC others(25): Show TATCCATCCATCCATCCATCCATCCATCCACCC	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0292 a0001c0001t0002g0292	1	442	0.0023	32	c.710 others(47): Show c.710-349_710-348insCCATCCATCCATCCATCCATCCACCCATCC AT	CPZ	ENSG00000109625.19	transcript	ENST00000360986.9	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CPZ_chr4_8587765_8624752	8605634	T T	TATCCATC others(25): Show TATCCATCCATCCATCCATCCATCCATTCACCC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp1 HG00609.hp1 others(27): Show HG00408.hp2 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp1 HG02080.hp2 HG02165.hp1 HG03491.hp1 HG03492.hp2 NA18612.hp1 NA18947.hp1 NA18950.hp2 NA18959.hp1 NA18963.hp1 NA18964.hp2 NA18972.hp1 NA18974.hp1 NA18975.hp1 NA18977.hp2 NA18991.hp2 NA19000.hp1 NA19000.hp2 NA19055.hp2 NA19072.hp2 NA19081.hp2 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0002c0004t0001 a0002c0004t0002	a0001c0001t0001g0300 a0001c0001t0002g0024 a0001c0001t0002g0025 others(20): Show a0001c0001t0001g0300 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0065 a0001c0001t0002g0154 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0285 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0008g0068 a0002c0004t0001g0265 a0002c0004t0002g0259	30	442	0.0679	32	c.710 others(47): Show c.710-349_710-348insCCATCCATCCATCCATCCATTCACCCATCC AT	CPZ	ENSG00000109625.19	transcript	ENST00000360986.9	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CPZ_chr4_8587765_8624752	8609217	C C	CACTCACT others(25): Show CACTCACTCCCTCACTCACTCACTCATTCACTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01070.hp2 HG01071.hp1 others(5): Show HG00558.hp2 HG01070.hp2 HG01071.hp1 HG01099.hp1 NA18969.hp2 NA18977.hp1 NA19004.hp2 NA19064.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0003 a0001c0001t0001 a0003c0003t0003	a0001c0001t0001g0199 a0003c0003t0003g0031 a0003c0003t0003g0032 others(3): Show a0001c0001t0001g0199 a0003c0003t0003g0031 a0003c0003t0003g0032 a0003c0003t0003g0096 a0003c0003t0003g0097 a0003c0003t0003g0099	8	442	0.0181	32	c.122 others(51): Show c.1227+1795_1227+1796insCACTCCCTCACTCACTCACTCATTCA CTTACT	CPZ	ENSG00000109625.19	transcript	ENST00000360986.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CPZ_chr4_8587765_8624752	8609217	C C	CACTCACT others(25): Show CACTCACTCCCTCACTCACTTACTCATTGACTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00544.hp2 others(27): Show HG00099.hp2 HG00423.hp2 HG00544.hp2 HG01168.hp1 HG01169.hp1 HG01496.hp1 HG01515.hp2 HG01943.hp2 HG02055.hp1 HG02074.hp1 HG02155.hp2 HG02683.hp1 HG03017.hp2 HG03239.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp2 HG04204.hp2 HG04228.hp1 NA18941.hp2 NA18955.hp1 NA18960.hp2 NA18995.hp2 NA19030.hp2 NA19064.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0020 a0027	a0001c0001 a0001c0012 a0001c0042 others(9): Show a0001c0001 a0001c0012 a0001c0042 a0001c0048 a0001c0057 a0002c0004 a0002c0009 a0002c0021 a0002c0022 a0005c0034 a0020c0064 a0027c0047	a0001c0001t0002 a0001c0012t0002 a0001c0042t0002 others(10): Show a0001c0001t0002 a0001c0012t0002 a0001c0042t0002 a0001c0048t0001 a0001c0057t0002 a0002c0004t0002 a0002c0009t0002 a0002c0021t0001 a0002c0021t0002 a0002c0022t0002 a0005c0034t0002 a0020c0064t0002 a0027c0047t0002	a0001c0001t0002g0158 a0001c0012t0002g0108 a0001c0042t0002g0185 others(18): Show a0001c0001t0002g0158 a0001c0012t0002g0108 a0001c0042t0002g0185 a0001c0048t0001g0104 a0001c0057t0002g0070 a0002c0004t0002g0004 a0002c0004t0002g0010 a0002c0004t0002g0256 a0002c0004t0002g0261 a0002c0004t0002g0267 a0002c0004t0002g0270 a0002c0009t0002g0061 a0002c0009t0002g0268 a0002c0021t0001g0260 a0002c0021t0002g0010 a0002c0022t0002g0262 a0002c0022t0002g0277 a0002c0022t0002g0278 a0005c0034t0002g0247 a0020c0064t0002g0258 a0027c0047t0002g0107	30	442	0.0679	32	c.122 others(51): Show c.1227+1795_1227+1796insCACTCCCTCACTCACTTACTCATTGA CTTACT	CPZ	ENSG00000109625.19	transcript	ENST00000360986.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CR1L_chr1_207640133_207728703	207643914	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0328 a0009c0010t0001g0328	1	346	0.0029	32	c.-13 others(43): Show c.-1320_-1319insTATATATATATATATATATATATATATATATA	CR1L	ENSG00000197721.17	transcript	ENST00000508064.7	protein_coding		1218		chr1	TogoVar
CR1L_chr1_207640133_207728703	207683010	T T	TTCTTTCT others(25): Show TTCTTTCTTTCTTTCTTTTTCTTTTTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03704.hp2 NA20905.hp1 HG03704.hp2 NA20905.hp1	a0015 a0015	a0015c0024 a0015c0024	a0015c0024t0001 a0015c0024t0001	a0015c0024t0001g0260 a0015c0024t0001g0262 a0015c0024t0001g0260 a0015c0024t0001g0262	2	346	0.0058	32	c.378 others(47): Show c.378-861_378-860insCTTTCTTTCTTTCTTTTTCTTTTTTTCTTT CT	CR1L	ENSG00000197721.17	transcript	ENST00000508064.7	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1L_chr1_207640133_207728703	207683010	T T	TTCTTTCT others(25): Show TTCTTTCTTTCTTTTTCTTTTTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00558.hp2 HG00597.hp1 others(7): Show HG00280.hp2 HG00558.hp2 HG00597.hp1 HG01934.hp2 HG03688.hp2 HG04199.hp1 NA18612.hp1 NA18944.hp1 NA18952.hp2 NA19063.hp1	a0004 a0027 a0030 a0004 a0027 a0030	a0004c0004 a0027c0034 a0030c0037 a0004c0004 a0027c0034 a0030c0037	a0004c0004t0001 a0027c0034t0001 a0030c0037t0001 a0004c0004t0001 a0027c0034t0001 a0030c0037t0001	a0004c0004t0001g0284 a0004c0004t0001g0286 a0004c0004t0001g0296 others(7): Show a0004c0004t0001g0284 a0004c0004t0001g0286 a0004c0004t0001g0296 a0004c0004t0001g0299 a0004c0004t0001g0300 a0004c0004t0001g0306 a0004c0004t0001g0312 a0004c0004t0001g0314 a0027c0034t0001g0315 a0030c0037t0001g0283	10	346	0.0289	32	c.378 others(47): Show c.378-861_378-860insCTTTCTTTCTTTTTCTTTTTTTCTTTCTTT CT	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(25): Show ATATATATATATATATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01261.hp1 NA18986.hp1 HG00323.hp2 HG01261.hp1 NA18986.hp1	a0004 a0005 a0004 a0005	a0004c0070 a0005c0005 a0004c0070 a0005c0005	a0004c0070t0001 a0005c0005t0002 a0004c0070t0001 a0005c0005t0002	a0004c0070t0001g0194 a0005c0005t0002g0316 a0005c0005t0002g0329 a0004c0070t0001g0194 a0005c0005t0002g0316 a0005c0005t0002g0329	3	360	0.0083	32	c.689 others(49): Show c.6890-563_6890-562insATATATATATATATATATATATATATGT GTGT	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(25): Show ATATATATATATATATATATATATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01433.hp1 HG02004.hp2 others(2): Show HG01261.hp2 HG01433.hp1 HG02004.hp2 HG04204.hp1 NA18981.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0001 a0002c0002t0022 a0004c0004t0001 a0002c0002t0001 a0002c0002t0022 a0004c0004t0001	a0002c0002t0001g0184 a0002c0002t0001g0211 a0002c0002t0001g0309 others(2): Show a0002c0002t0001g0184 a0002c0002t0001g0211 a0002c0002t0001g0309 a0002c0002t0022g0007 a0004c0004t0001g0126	5	360	0.0139	32	c.689 others(49): Show c.6890-563_6890-562insATATATATATATATATATATATATGTGT GTGT	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(25): Show ATATATATATATATATATATATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0327 a0005c0005t0002g0327	1	360	0.0028	32	c.689 others(49): Show c.6890-563_6890-562insATATATATATATATATATATATGTGTGT GTGT	CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	41/46		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1_chr1_207491157_207646765	207643914	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0014 a0014	a0014c0020 a0014c0020	a0014c0020t0002 a0014c0020t0002	a0014c0020t0002g0057 a0014c0020t0002g0057	1	360	0.0028	32	c.45 others(43): Show c.4505_*4506insTATATATATATATATATATATATATATATATA	CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding		2150		chr1	TogoVar
CR2_chr1_207449328_207494892	207458073	C C	CACACACA others(25): Show CACACACACACACACACATACACACACACACAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02717.hp2 HG02896.hp2 HG02257.hp1 HG02717.hp2 HG02896.hp2	a0001 a0001	a0001c0003 a0001c0016 a0001c0003 a0001c0016	a0001c0003t0001 a0001c0016t0003 a0001c0003t0001 a0001c0016t0003	a0001c0003t0001g0184 a0001c0003t0001g0185 a0001c0016t0003g0186 a0001c0003t0001g0184 a0001c0003t0001g0185 a0001c0016t0003g0186	3	378	0.0079	32	c.58+ others(47): Show c.58+3614_58+3615insTACACACACACACATACACACACACACACA CA	CR2	ENSG00000117322.19	transcript	ENST00000367057.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR2_chr1_207449328_207494892	207458073	C C	CACACACA others(25): Show CACACACACATACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0011 a0011	a0011c0026 a0011c0026	a0011c0026t0001 a0011c0026t0001	a0011c0026t0001g0213 a0011c0026t0001g0213	1	378	0.0027	32	c.58+ others(47): Show c.58+3606_58+3607insTACACACACACACACACACACATACACACA CA	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(25): Show CACACACACATACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02922.hp1 NA20300.hp2 HG02809.hp2 HG02922.hp1 NA20300.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0045 a0003c0006t0001g0221 a0003c0006t0001g0045 a0003c0006t0001g0221	3	378	0.0079	32	c.58+ others(47): Show c.58+3610_58+3611insTACACACACACACACACACACATACACACA CA	CR2	ENSG00000117322.19	transcript	ENST00000367057.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR2_chr1_207449328_207494892	207458077	C C	CACACATA others(25): Show CACACATACACACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03579.hp2 NA19240.hp2 HG02451.hp1 HG03579.hp2 NA19240.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0020 a0003c0006t0003g0020	3	378	0.0079	32	c.58+ others(47): Show c.58+3606_58+3607insTACACACACACACACACACACACACATACA CA	CR2	ENSG00000117322.19	transcript	ENST00000367057.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
CRACDL_chr2_98788846_98941225	98795077	A A	ATATATAT others(25): Show ATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0291 a0003c0003t0001g0291	1	316	0.0032	32	c.275 others(49): Show c.2750-407_2750-406insAAAAAAAAAAAATATATATATATATATA TATA	CRACDL	ENSG00000196872.12	transcript	ENST00000397899.7	protein_coding	9/9			chr2	TogoVar
CRACDL_chr2_98788846_98941225	98900094	G G	GAGGGGAG others(25): Show GAGGGGAGGCAGGGGGACAGAGGCTCAGTGGGA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00609.hp2 HG00621.hp2 others(21): Show HG00597.hp2 HG00609.hp2 HG00621.hp2 HG01952.hp1 HG02055.hp1 HG02135.hp2 HG02148.hp2 HG02615.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18941.hp1 NA18943.hp1 NA18945.hp1 NA18954.hp1 NA18956.hp1 NA18960.hp1 NA18962.hp1 NA18968.hp2 NA19043.hp1 NA19064.hp1 NA19070.hp1 NA19074.hp2 NA19086.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 others(21): Show a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0210 a0001c0001t0001g0218 a0001c0001t0001g0223 a0001c0001t0001g0315 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0268	24	316	0.0760	32	c.-11 others(51): Show c.-11+35843_-11+35844insTCCCACTGAGCCTCTGTCCCCCTGCC TCCCCT	CRACDL	ENSG00000196872.12	transcript	ENST00000397899.7	protein_coding	1/9			chr2	TogoVar
CRACD_chr4_56044098_56335609	56214681	C C	CTCTCTCT others(25): Show CTCTCTCTCTCTCTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0026 a0003c0007t0001g0026	1	250	0.0040	32	c.-18 others(53): Show c.-189+35252_-189+35253insCTCTCTCTCTCTATATATATATAT ATATATAT	CRACD	ENSG00000109265.15	transcript	ENST00000682029.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CRACD_chr4_56044098_56335609	56214681	C C	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0003 a0006c0009t0003	a0006c0009t0003g0113 a0006c0009t0003g0113	1	250	0.0040	32	c.-18 others(53): Show c.-189+35252_-189+35253insCTCTCTCTCTCTCTATATATATAT ATATATAT	CRACD	ENSG00000109265.15	transcript	ENST00000682029.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CRACD_chr4_56044098_56335609	56214681	C C	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0242 a0003c0007t0001g0242	1	250	0.0040	32	c.-18 others(53): Show c.-189+35252_-189+35253insCTCTCTCTCTCTCTCTATATATAT ATATATAT	CRACD	ENSG00000109265.15	transcript	ENST00000682029.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CRACR2A_chr12_3610328_3758109	3720416	G G	GAAGAAAG others(25): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	320	0.0031	32	c.-11 others(51): Show c.-117-7131_-117-7100dupTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTT	CRACR2A	ENSG00000130038.10	transcript	ENST00000440314.7	protein_coding	2/19			chr12	TogoVar
CRB2_chr9_123351197_123383753	123364335	T T	TGGGCAGT others(25): Show TGGGCAGTGGGTTGTGCGGGCAGTGGGTTGTGC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01168.hp1 HG00642.hp1 HG01168.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0036 a0002c0001t0001g0036	2	432	0.0046	32	c.418 others(49): Show c.418+1164_418+1195dupGGGCAGTGGGTTGTGCGGGCAGTGGGTT GTGC	CRB2	ENSG00000148204.12	transcript	ENST00000373631.8	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr9	TogoVar
CRB2_chr9_123351197_123383753	123364351	C C	CGGGCAGT others(25): Show CGGGCAGTGAGTTGTTCGGGCAGTGGGTTGTGT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp2 HG02257.hp2 others(14): Show HG01884.hp1 HG01891.hp2 HG02257.hp2 HG02559.hp2 HG02615.hp2 HG02622.hp1 HG02717.hp1 HG02723.hp1 HG02809.hp2 HG02895.hp1 HG02970.hp2 HG03195.hp1 HG03579.hp2 HG06807.hp2 NA18970.hp1 NA18975.hp1 NA19085.hp2	a0004 a0025 a0004 a0025	a0004c0010 a0004c0011 a0004c0024 others(2): Show a0004c0010 a0004c0011 a0004c0024 a0004c0025 a0025c0048	a0004c0010t0002 a0004c0011t0001 a0004c0011t0002 others(3): Show a0004c0010t0002 a0004c0011t0001 a0004c0011t0002 a0004c0024t0002 a0004c0025t0002 a0025c0048t0002	a0004c0010t0002g0030 a0004c0010t0002g0031 a0004c0010t0002g0179 others(11): Show a0004c0010t0002g0030 a0004c0010t0002g0031 a0004c0010t0002g0179 a0004c0010t0002g0182 a0004c0011t0001g0098 a0004c0011t0002g0029 a0004c0011t0002g0170 a0004c0011t0002g0172 a0004c0011t0002g0175 a0004c0024t0002g0173 a0004c0024t0002g0174 a0004c0025t0002g0057 a0004c0025t0002g0058 a0025c0048t0002g0169	17	432	0.0394	32	c.418 others(49): Show c.418+1171_418+1172insAGTTGTTCGGGCAGTGGGTTGTGTGGGC AGTG	CRB2	ENSG00000148204.12	transcript	ENST00000373631.8	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr9	TogoVar
CRB2_chr9_123351197_123383753	123364351	C C	CGGGCAGT others(25): Show CGGGCAGTGGGTTGTGCGGGCAGTGGGTTGTGT	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0213 a0002c0001t0001g0213	1	432	0.0023	32	c.418 others(49): Show c.418+1194_418+1195insTGGGCAGTGGGTTGTGCGGGCAGTGGGT TGTG	CRB2	ENSG00000148204.12	transcript	ENST00000373631.8	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr9	TogoVar
CRBN_chr3_3145011_3184691	3150322	T T	TATCTCAG others(25): Show TATCTCAGAGAAGTTAAAGAAAATGGAAAGGAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01891.hp2 HG02257.hp1 HG01891.hp2 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0035 a0001c0001t0012g0035	2	376	0.0053	32	c.51 others(41): Show c.511_*542dupTTCCTTTCCATTTTCTTTAACTTCTCTGAGAT	CRBN	ENSG00000113851.16	transcript	ENST00000231948.9	protein_coding	11/11	542		chr3	TogoVar
CREB3L2_chr7_137869979_138007086	137899107	A A	AGGAAGGA others(25): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03225.hp2 HG01884.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0053 a0001c0001t0020g0277 a0001c0001t0020g0053 a0001c0001t0020g0277	2	288	0.0069	32	c.104 others(51): Show c.1043+2246_1043+2247insCTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCC	CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	8/11			chr7	TogoVar
CREB3L2_chr7_137869979_138007086	137922384	G G	GTATATAT others(25): Show GTATATATATATATATATATATATGTATATGTA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0126 a0003c0003t0002g0126	1	288	0.0035	32	c.319 others(49): Show c.319+5765_319+5766insTACATATACATATATATATATATATATA TATA	CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	2/11			chr7	TogoVar
CREB3L2_chr7_137869979_138007086	137922418	A A	ATGTATAT others(25): Show ATGTATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0018 a0002c0002t0018	a0002c0002t0018g0113 a0002c0002t0018g0113	1	288	0.0035	32	c.319 others(49): Show c.319+5731_319+5732insCATATATATATATATATATATATATATA TACA	CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	2/11			chr7	TogoVar
CREB3L3_chr19_4148631_4178054	4163328	A A	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0036 a0001c0002t0003g0036	1	404	0.0025	32	c.577 others(49): Show c.577-1149_577-1148insAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAA	CREB3L3	ENSG00000060566.14	transcript	ENST00000078445.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
CREB3L3_chr19_4148631_4178054	4163351	A A	AGAAAGAA others(25): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01168.hp1 HG02155.hp2 others(9): Show HG00323.hp1 HG01168.hp1 HG02155.hp2 HG02698.hp2 HG04204.hp1 NA18943.hp2 NA18955.hp2 NA18966.hp1 NA18979.hp1 NA18979.hp2 NA18992.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0003	a0001c0001t0001g0045 a0001c0001t0001g0062 a0001c0001t0001g0174 others(9): Show a0001c0001t0001g0045 a0001c0001t0001g0062 a0001c0001t0001g0174 a0001c0001t0002g0321 a0001c0001t0002g0337 a0001c0001t0004g0219 a0001c0002t0001g0021 a0001c0002t0003g0024 a0001c0002t0003g0026 a0001c0002t0003g0063 a0001c0002t0003g0288 a0001c0002t0003g0311	12	404	0.0297	32	c.577 others(49): Show c.577-1149_577-1148insAGAAAGAAAGAAAGAAAGAAAGAAAGAA GGAA	CREB3L3	ENSG00000060566.14	transcript	ENST00000078445.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
CREB5_chr7_28407518_28830894	28486670	T T	TTAAATAT others(25): Show TTAAATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03579.hp1 HG03453.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0035 a0001c0001t0006g0036 a0001c0001t0006g0035 a0001c0001t0006g0036	2	198	0.0101	32	c.4-1 others(45): Show c.4-1503_4-1502insAATATATATATATATATATATATATATATATA	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(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02055.hp1 HG03834.hp2 others(2): Show HG01071.hp2 HG02055.hp1 HG03834.hp2 NA18971.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0019 others(2): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0019 a0001c0001t0040 a0001c0001t0041	a0001c0001t0004g0062 a0001c0001t0008g0072 a0001c0001t0019g0021 others(2): Show a0001c0001t0004g0062 a0001c0001t0008g0072 a0001c0001t0019g0021 a0001c0001t0040g0042 a0001c0001t0041g0121	5	198	0.0253	32	c.4-1 others(45): Show c.4-1482_4-1481insATATATATATATATATATATATATATATATAT	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28560911	T T	TGTGTGTG others(25): Show TGTGTGTGCGCGCGTGCATGCGCGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03041.hp2 HG03098.hp2 others(2): Show HG02647.hp1 HG03041.hp2 HG03098.hp2 HG03516.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0011 a0001c0001t0042	a0001c0001t0002g0158 a0001c0001t0004g0020 a0001c0001t0009g0161 others(2): Show a0001c0001t0002g0158 a0001c0001t0004g0020 a0001c0001t0009g0161 a0001c0001t0011g0197 a0001c0001t0042g0134	5	198	0.0253	32	c.292 others(49): Show c.292-9451_292-9450insTGTGCGCGCGTGCATGCGCGTGTGTGTG CGTG	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28560985	C C	CGCGTGCG others(25): Show CGCGTGCGTGTGTGCGCGTGTGTGCGCGTGCGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00639.hp1 others(21): Show HG00099.hp2 HG00408.hp2 HG00639.hp1 HG00741.hp2 HG01192.hp1 HG01192.hp2 HG01258.hp2 HG01433.hp2 HG01515.hp2 HG01884.hp2 HG02280.hp2 HG02486.hp2 HG02602.hp2 HG02647.hp1 HG02698.hp1 HG02970.hp1 HG03041.hp2 HG03098.hp2 HG03516.hp2 HG04115.hp2 HG04184.hp1 NA18522.hp1 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0020 a0001c0001t0025 a0001c0001t0029 a0001c0001t0042 a0001c0001t0047	a0001c0001t0001g0013 a0001c0001t0001g0058 a0001c0001t0001g0081 others(21): Show a0001c0001t0001g0013 a0001c0001t0001g0058 a0001c0001t0001g0081 a0001c0001t0001g0109 a0001c0001t0002g0033 a0001c0001t0002g0158 a0001c0001t0002g0191 a0001c0001t0003g0065 a0001c0001t0003g0148 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0004g0020 a0001c0001t0004g0149 a0001c0001t0004g0175 a0001c0001t0005g0159 a0001c0001t0007g0059 a0001c0001t0007g0195 a0001c0001t0009g0161 a0001c0001t0011g0197 a0001c0001t0020g0169 a0001c0001t0025g0080 a0001c0001t0029g0110 a0001c0001t0042g0134 a0001c0001t0047g0100	24	198	0.1212	32	c.292 others(49): Show c.292-9379_292-9378insCGTGCGTGTGTGCGCGTGTGTGCGCGTG CGTG	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28560987	T T	TGCGCGTG others(25): Show TGCGCGTGCGTGTGTGCGCGTGTGTGCGCGTGC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02155.hp1 HG02523.hp1 others(5): Show HG00408.hp1 HG02155.hp1 HG02523.hp1 HG02523.hp2 HG04184.hp2 NA18954.hp2 NA18971.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0020	a0001c0001t0001g0016 a0001c0001t0001g0048 a0001c0001t0001g0097 others(5): Show a0001c0001t0001g0016 a0001c0001t0001g0048 a0001c0001t0001g0097 a0001c0001t0004g0128 a0001c0001t0006g0009 a0001c0001t0008g0071 a0001c0001t0008g0072 a0001c0001t0020g0126	8	198	0.0404	32	c.292 others(49): Show c.292-9377_292-9376insCGCGTGCGTGTGTGCGCGTGTGTGCGCG TGCG	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28658949	G G	GTGTGTAT others(25): Show GTGTGTATATAATATATATATATATATAATATA	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0075 a0001c0001t0007g0075	1	198	0.0051	32	c.465 others(51): Show c.465-59794_465-59793insATATATATATATATATAATATATGTG TATATA	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREBBP_chr16_3720054_3885713	3787070	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0007 a0001c0027t0007	a0001c0027t0007g0007 a0001c0027t0007g0007	1	286	0.0035	32	c.133 others(51): Show c.1331-4145_1331-4144insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	CREBBP	ENSG00000005339.15	transcript	ENST00000262367.10	protein_coding	5/30			chr16	TogoVar
CREBRF_chr5_173051352_173144284	173117579	C C	CTCCCTCC others(25): Show CTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG03139.hp1 HG03239.hp1 HG02129.hp2 HG03139.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0237 a0001c0001t0002g0252 a0001c0001t0002g0288 a0001c0001t0002g0237 a0001c0001t0002g0252 a0001c0001t0002g0288	3	292	0.0103	32	c.168 others(51): Show c.1681+5203_1681+5204insCTCCCTCCCTCCCTCCCTCCTTCCTT CCTTCC	CREBRF	ENSG00000164463.12	transcript	ENST00000296953.6	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr5	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)