Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CPQ_chr8_96640242_97148501	97123024	T T	TAAAATAA others(8): Show TAAAATAAATAAAATA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	31	0.0323	15	c.125 others(36): Show c.1256-19993_1256-19992insATAAATAAAATAAAA		CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	7/7					INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	97123100	T T	TAAATAAA others(8): Show TAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0056 a0001c0002t0001g0056	1	113	0.0088	15	c.125 others(36): Show c.1256-19907_1256-19893dupATAAAATAAAATAAA		CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	7/7					INFO_REALIGN_3_PRIME	chr8	TogoVar
CPSF1_chr8_144388231_144414335	144392334	T T	TGGGGGTG others(8): Show TGGGGGTGCAAGGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(119): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01169.hp2 HG01175.hp2 HG01255.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01975.hp1 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02293.hp1 HG02451.hp1 HG02572.hp2 HG02615.hp1 HG02683.hp2 HG02735.hp1 HG03017.hp1 HG03130.hp1 HG03239.hp1 HG03471.hp1 HG03491.hp2 HG03492.hp2 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03927.hp1 HG04184.hp1 HG04199.hp2 HG06807.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp1 NA18947.hp2 NA18952.hp2 NA18955.hp1 NA18957.hp1 NA18961.hp1 NA18966.hp1 NA18967.hp2 NA18969.hp1 NA18971.hp1 NA18973.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp2 NA18987.hp2 NA18989.hp1 NA18990.hp1 NA18994.hp2 NA18998.hp1 NA19000.hp1 NA19002.hp1 NA19009.hp2 NA19055.hp1 NA19056.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19080.hp1 NA19084.hp2 NA19087.hp2 NA19240.hp1 NA20129.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0006 a0009	a0001c0001 a0001c0008 a0001c0009 others(5): Show a0001c0001 a0001c0008 a0001c0009 a0001c0018 a0002c0004 a0005c0035 a0006c0017 a0009c0022	a0001c0001t0001 a0001c0008t0001 a0001c0009t0001 others(5): Show a0001c0001t0001 a0001c0008t0001 a0001c0009t0001 a0001c0018t0001 a0002c0004t0001 a0005c0035t0001 a0006c0017t0001 a0009c0022t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(44): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0136 a0001c0001t0001g0148 a0001c0008t0001g0127 a0001c0008t0001g0128 a0001c0009t0001g0047 a0001c0009t0001g0050 a0001c0018t0001g0062 a0002c0004t0001g0028 a0002c0004t0001g0116 a0005c0035t0001g0115 a0006c0017t0001g0110 a0009c0022t0001g0111	122	347	0.3516	15	c.96 others(24): Show c.969_*983dupTCACCTTGCACCCCC		CPSF1	ENSG00000071894.17	transcript	ENST00000616140.2	protein_coding					896		chr8	TogoVar
CPSF1_chr8_144388231_144414335	144398292	C C	CCCACCAC others(8): Show CCCACCACCGTCCCCA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03453.hp2 HG02976.hp2 HG03453.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0151 a0001c0011t0001g0157 a0001c0011t0001g0151 a0001c0011t0001g0157	2	348	0.0057	15	c.189 others(29): Show c.1894+9_1894+10insTGGGGACGGTGGTGG		CPSF1	ENSG00000071894.17	transcript	ENST00000616140.2	protein_coding	19/37						chr8	TogoVar
CPSF2_chr14_92116969_92177145	92149119	T T	TACTGGTA others(8): Show TACTGGTAAGATGATA	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0111 a0001c0001t0060g0111	1	386	0.0026	15	c.114 others(34): Show c.1141-5238_1141-5224dupACTGGTAAGATGATA		CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding	9/15					INFO_REALIGN_3_PRIME	chr14	TogoVar
CPSF2_chr14_92116969_92177145	92165854	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01074.hp2 HG01081.hp1 HG01106.hp2 others(28): Show HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01934.hp2 HG01978.hp1 HG02015.hp2 HG02027.hp2 HG02135.hp1 HG02148.hp1 HG02602.hp1 HG02630.hp2 HG03130.hp2 HG03139.hp2 HG03654.hp1 NA18747.hp2 NA18949.hp2 NA18979.hp1 NA18984.hp1 NA18989.hp2 NA18991.hp2 NA18993.hp2 NA19001.hp1 NA19007.hp2 NA19009.hp1 NA19066.hp1 NA19066.hp2 NA19077.hp1 NA19088.hp1 NA19088.hp2 NA20300.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0001c0001t0010 a0001c0001t0019 others(9): Show a0001c0001t0006 a0001c0001t0010 a0001c0001t0019 a0001c0001t0054 a0001c0001t0133 a0001c0001t0134 a0001c0001t0155 a0001c0001t0156 a0001c0001t0157 a0001c0001t0158 a0001c0001t0163 a0002c0002t0010	a0001c0001t0006g0002 a0001c0001t0006g0008 a0001c0001t0006g0014 others(24): Show a0001c0001t0006g0002 a0001c0001t0006g0008 a0001c0001t0006g0014 a0001c0001t0006g0018 a0001c0001t0006g0204 a0001c0001t0006g0205 a0001c0001t0006g0211 a0001c0001t0010g0010 a0001c0001t0010g0030 a0001c0001t0010g0061 a0001c0001t0010g0081 a0001c0001t0010g0092 a0001c0001t0010g0095 a0001c0001t0010g0109 a0001c0001t0019g0086 a0001c0001t0019g0089 a0001c0001t0019g0093 a0001c0001t0019g0107 a0001c0001t0054g0208 a0001c0001t0133g0187 a0001c0001t0134g0201 a0001c0001t0155g0076 a0001c0001t0156g0073 a0001c0001t0157g0100 a0001c0001t0158g0067 a0001c0001t0163g0014 a0002c0002t0010g0080	31	105	0.2952	15	c.41 others(26): Show c.4121_*4135dupTTTTTTTTTTTTTTT		CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding	16/16				4136	INFO_REALIGN_3_PRIME	chr14	TogoVar
CPSF2_chr14_92116969_92177145	92173321	A A	ATTATATA others(8): Show ATTATATAATTATATC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0088 a0001c0001t0088	a0001c0001t0088g0155 a0001c0001t0088g0155	1	386	0.0026	15	c.11 others(28): Show c.11577_*11578insTTATATAATTATATC		CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding					1177		chr14	TogoVar
CPSF3_chr2_9418654_9478101	9436774	A A	AAATAATA others(8): Show AAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00738.hp1 HG01109.hp2 others(21): Show HG00639.hp2 HG00738.hp1 HG01109.hp2 HG01884.hp1 HG02055.hp1 HG02055.hp2 HG02451.hp1 HG02486.hp1 HG02615.hp1 HG02615.hp2 HG02717.hp1 HG02886.hp1 HG02976.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03471.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA19030.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0006 a0001c0001 a0001c0002 a0002c0006	a0001c0001t0001 a0001c0002t0001 a0002c0006t0001 a0001c0001t0001 a0001c0002t0001 a0002c0006t0001	a0001c0001t0001g0049 a0001c0001t0001g0166 a0001c0002t0001g0009 others(20): Show a0001c0001t0001g0049 a0001c0001t0001g0166 a0001c0002t0001g0009 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0169 a0001c0002t0001g0170 a0002c0006t0001g0030	24	143	0.1678	15	c.760 others(30): Show c.760+421_760+435dupATAATAATAATAATA		CPSF3	ENSG00000119203.14	transcript	ENST00000238112.8	protein_coding	7/17					INFO_REALIGN_3_PRIME	chr2	TogoVar
CPSF4_chr7_99433943_99462373	99434138	G G	GCAGCGCA others(8): Show GCAGCGCAGGTAATCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	362	0.0028	15	c.-49 others(26): Show c.-4945_-4944insCAGCGCAGGTAATCA		CPSF4	ENSG00000160917.15	transcript	ENST00000292476.10	protein_coding					4804		chr7	TogoVar
CPSF6_chr12_69234569_69279358	69249152	C C	CGGTGGGG others(8): Show CGGTGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01069.hp1 HG01928.hp2 others(3): Show HG00735.hp1 HG01069.hp1 HG01928.hp2 HG02148.hp2 HG04204.hp2 NA18974.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0002t0035 a0001c0005t0001 a0001c0002t0001 a0001c0002t0035 a0001c0005t0001	a0001c0002t0001g0003 a0001c0002t0001g0012 a0001c0002t0001g0039 others(3): Show a0001c0002t0001g0003 a0001c0002t0001g0012 a0001c0002t0001g0039 a0001c0002t0001g0052 a0001c0002t0035g0122 a0001c0005t0001g0105	6	161	0.0373	15	c.61- others(30): Show c.61-1975_61-1974insTGGGGGGGGGGGGGG		CPSF6	ENSG00000111605.18	transcript	ENST00000435070.7	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
CPSF6_chr12_69234569_69279358	69249163	G G	GGGGGGGG others(8): Show GGGGGGGGGGGGGGGT	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0136 a0001c0001t0002g0136	1	320	0.0031	15	c.61- others(30): Show c.61-1960_61-1959insGGGGGGGGTGGGGGG		CPSF6	ENSG00000111605.18	transcript	ENST00000435070.7	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
CPSF7_chr11_61397729_61434975	61434591	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02965.hp1 HG02615.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0130 a0001c0001t0002g0132 a0001c0001t0001g0130 a0001c0001t0002g0132	2	132	0.0152	15	c.-47 others(26): Show c.-4748_-4734dupAAAAAAAAAAAAAAA		CPSF7	ENSG00000149532.16	transcript	ENST00000439958.8	protein_coding					4617		chr11	TogoVar
CPT1A_chr11_68749883_68846916	68750768	A A	ACAGCCAA others(8): Show ACAGCCAAGGGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0159 a0001c0002t0003g0159	1	62	0.0161	15	c.68 others(26): Show c.6861_*6875dupCCCCTCCCTTGGCTG		CPT1A	ENSG00000110090.13	transcript	ENST00000265641.10	protein_coding					4114		chr11	TogoVar
CPT1A_chr11_68749883_68846916	68750932	T T	TAGGTGAG others(8): Show TAGGTGAGGGGCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02965.hp1 HG02723.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0166 a0001c0002t0002g0167 a0001c0002t0002g0166 a0001c0002t0002g0167	2	221	0.0090	15	c.66 others(26): Show c.6697_*6711dupGGCCGCCCCTCACCT		CPT1A	ENSG00000110090.13	transcript	ENST00000265641.10	protein_coding					3950		chr11	TogoVar
CPT1A_chr11_68749883_68846916	68801773	A A	ACTAAAGC others(8): Show ACTAAAGCACCCATGC	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	234	0.0043	15	c.555 others(32): Show c.555+2212_555+2226dupGCATGGGTGCTTTAG		CPT1A	ENSG00000110090.13	transcript	ENST00000265641.10	protein_coding	5/18						chr11	TogoVar
CPT1A_chr11_68749883_68846916	68803712	A A	AAAAATAA others(8): Show AAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01433.hp2 HG01891.hp2 others(13): Show HG01081.hp1 HG01433.hp2 HG01891.hp2 HG01952.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02615.hp2 HG02647.hp2 HG02717.hp1 HG02896.hp2 HG03579.hp2 HG04115.hp2 NA18906.hp2 NA19002.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0009 a0001c0001 a0001c0002 a0002c0009	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0033 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0008 a0002c0009t0032	a0001c0001t0002g0008 a0001c0001t0003g0198 a0001c0001t0005g0122 others(13): Show a0001c0001t0002g0008 a0001c0001t0003g0198 a0001c0001t0005g0122 a0001c0001t0005g0123 a0001c0001t0033g0130 a0001c0002t0001g0212 a0001c0002t0002g0150 a0001c0002t0002g0193 a0001c0002t0002g0195 a0001c0002t0002g0200 a0001c0002t0002g0214 a0001c0002t0002g0220 a0001c0002t0003g0141 a0001c0002t0003g0151 a0001c0002t0008g0218 a0002c0009t0032g0216	16	126	0.1270	15	c.555 others(30): Show c.555+273_555+287dupATTTTATTTTATTTT		CPT1A	ENSG00000110090.13	transcript	ENST00000265641.10	protein_coding	5/18						chr11	TogoVar
CPT1A_chr11_68749883_68846916	68838571	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00735.hp2 HG00738.hp1 others(28): Show HG00099.hp1 HG00735.hp2 HG00738.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01169.hp1 HG01433.hp2 HG01515.hp2 HG01978.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02257.hp1 HG02559.hp2 HG02922.hp1 HG03239.hp1 HG03239.hp2 HG03492.hp1 HG03579.hp2 HG03710.hp1 HG06807.hp2 NA18950.hp1 NA18951.hp2 NA18966.hp2 NA18983.hp1 NA19002.hp2 NA19056.hp1 NA19240.hp1 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0012 a0001c0001t0020 a0001c0001t0042 a0001c0002t0002 a0001c0002t0023 a0001c0003t0043 a0003c0005t0002 a0003c0005t0008	a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0176 others(28): Show a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0176 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0002g0182 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0191 a0001c0001t0003g0198 a0001c0001t0003g0202 a0001c0001t0007g0177 a0001c0001t0012g0199 a0001c0001t0020g0197 a0001c0001t0042g0233 a0001c0002t0002g0185 a0001c0002t0002g0190 a0001c0002t0002g0192 a0001c0002t0002g0193 a0001c0002t0002g0194 a0001c0002t0002g0195 a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0023g0196 a0001c0003t0043g0234 a0003c0005t0002g0184 a0003c0005t0008g0189	31	151	0.2053	15	c.-14 others(32): Show c.-14+3203_-14+3204insTTTTTTTTTTTTTTT		CPT1A	ENSG00000110090.13	transcript	ENST00000265641.10	protein_coding	1/18						chr11	TogoVar
CPT1A_chr11_68749883_68846916	68838572	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03486.hp2 HG02630.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0038 a0001c0001t0014 a0001c0001t0038	a0001c0001t0014g0106 a0001c0001t0038g0228 a0001c0001t0014g0106 a0001c0001t0038g0228	2	6	0.3333	15	c.-14 others(32): Show c.-14+3188_-14+3202dupTTTTTTTTTTTTTTT		CPT1A	ENSG00000110090.13	transcript	ENST00000265641.10	protein_coding	1/18						chr11	TogoVar
CPT1A_chr11_68749883_68846916	68838579	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG03710.hp2 NA18942.hp2 NA18977.hp2 HG03710.hp2 NA18942.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 a0001c0001t0001 a0001c0001t0003 a0001c0001t0015	a0001c0001t0001g0224 a0001c0001t0003g0222 a0001c0001t0015g0223 a0001c0001t0001g0224 a0001c0001t0003g0222 a0001c0001t0015g0223	3	233	0.0129	15	c.-14 others(32): Show c.-14+3195_-14+3196insGTTTTTTTTTTTTTT		CPT1A	ENSG00000110090.13	transcript	ENST00000265641.10	protein_coding	1/18						chr11	TogoVar
CPT1A_chr11_68749883_68846916	68838582	A A	AAAAACAA others(8): Show AAAAACAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02896.hp2 HG03486.hp1 others(1): Show HG02615.hp2 HG02896.hp2 HG03486.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0027 a0001c0002t0002 others(1): Show a0001c0001t0003 a0001c0001t0027 a0001c0002t0002 a0001c0002t0008	a0001c0001t0003g0221 a0001c0001t0027g0219 a0001c0002t0002g0220 others(1): Show a0001c0001t0003g0221 a0001c0001t0027g0219 a0001c0002t0002g0220 a0001c0002t0008g0218	4	233	0.0172	15	c.-14 others(32): Show c.-14+3192_-14+3193insGTTTTTTTTTGTTTT		CPT1A	ENSG00000110090.13	transcript	ENST00000265641.10	protein_coding	1/18						chr11	TogoVar
CPT1C_chr19_49686116_49718731	49712343	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02080.hp2 HG02602.hp1 others(3): Show HG02015.hp1 HG02080.hp2 HG02602.hp1 HG04184.hp1 NA18967.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0150 others(3): Show a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0150 a0001c0001t0001g0156 a0001c0001t0001g0210 a0001c0001t0002g0096	6	305	0.0197	15	c.201 others(32): Show c.2019+384_2020-377dupAAAAAAAAAAAAAAA		CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	17/19					INFO_REALIGN_3_PRIME	chr19	TogoVar
CPXM2_chr10_123740639_123896807	123832826	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0205 a0001c0013t0001g0205	1	150	0.0067	15	c.653 others(32): Show c.653+9522_653+9523insTTTTTTTTTTTTTTT		CPXM2	ENSG00000121898.13	transcript	ENST00000241305.4	protein_coding	4/13						chr10	TogoVar
CPXM2_chr10_123740639_123896807	123881232	T T	TCTTCCCT others(8): Show TCTTCCCTTCCCTTCC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01081.hp2 HG01109.hp2 others(12): Show HG00673.hp2 HG01081.hp2 HG01109.hp2 HG01952.hp2 HG03239.hp2 HG03491.hp1 HG03492.hp2 HG03654.hp1 NA18959.hp2 NA18979.hp1 NA18989.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0018	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0008 a0001c0002t0012 a0001c0003t0001 a0001c0003t0002 a0001c0018t0001	a0001c0001t0001g0207 a0001c0001t0001g0218 a0001c0001t0002g0202 others(12): Show a0001c0001t0001g0207 a0001c0001t0001g0218 a0001c0001t0002g0202 a0001c0002t0001g0286 a0001c0002t0008g0206 a0001c0002t0008g0208 a0001c0002t0012g0201 a0001c0003t0001g0203 a0001c0003t0001g0214 a0001c0003t0001g0215 a0001c0003t0001g0217 a0001c0003t0001g0236 a0001c0003t0001g0287 a0001c0003t0002g0204 a0001c0018t0001g0285	15	128	0.1172	15	c.305 others(30): Show c.305-938_305-924dupGGAAGGGAAGGGAAG		CPXM2	ENSG00000121898.13	transcript	ENST00000241305.4	protein_coding	1/13						chr10	TogoVar
CPZ_chr4_8587765_8624752	8609140	T T	TTCTCATT others(8): Show TTCTCATTAACTCAGC	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA20905.hp1 NA18985.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0129 a0001c0001t0001g0131	2	434	0.0046	15	c.122 others(34): Show c.1227+1715_1227+1716insTCTCATTAACTCAGC		CPZ	ENSG00000109625.19	transcript	ENST00000360986.9	protein_coding	7/10						chr4	TogoVar
CPZ_chr4_8587765_8624752	8622800	G G	GAAAAAAA others(8): Show GAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp1 NA18999.hp2 NA18747.hp1 NA18999.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0002 a0005c0005t0002 a0001c0001t0002 a0005c0005t0002	a0001c0001t0002g0073 a0005c0005t0002g0251 a0001c0001t0002g0073 a0005c0005t0002g0251	2	428	0.0047	15	c.31 others(26): Show c.3183_*3184insAAAAAAAAAAAAAAA		CPZ	ENSG00000109625.19	transcript	ENST00000360986.9	protein_coding					3049		chr4	TogoVar
CR1_chr1_207491157_207646765	207545757	G G	GCTTAAAA others(8): Show GCTTAAAAGAAAGACA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01167.hp1 HG01169.hp1 others(10): Show HG00735.hp2 HG01167.hp1 HG01169.hp1 HG01496.hp2 HG02055.hp2 HG02083.hp2 HG02257.hp2 HG02630.hp1 HG02896.hp2 HG02922.hp1 HG03098.hp1 HG03710.hp1 NA18906.hp1	a0001 a0004 a0005 others(4): Show a0001 a0004 a0005 a0012 a0021 a0025 a0029	a0001c0001 a0004c0015 a0005c0008 others(5): Show a0001c0001 a0004c0015 a0005c0008 a0012c0021 a0012c0028 a0021c0030 a0025c0040 a0029c0049	a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 others(7): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0004c0015t0002 a0005c0008t0002 a0012c0021t0005 a0012c0028t0005 a0021c0030t0016 a0025c0040t0005 a0029c0049t0002	a0001c0001t0003g0247 a0001c0001t0004g0223 a0001c0001t0007g0131 others(10): Show a0001c0001t0003g0247 a0001c0001t0004g0223 a0001c0001t0007g0131 a0004c0015t0002g0189 a0004c0015t0002g0190 a0004c0015t0002g0191 a0005c0008t0002g0303 a0012c0021t0005g0068 a0012c0021t0005g0255 a0012c0028t0005g0067 a0021c0030t0016g0061 a0025c0040t0005g0069 a0029c0049t0002g0066	13	345	0.0377	15	c.251 others(30): Show c.2516+80_2516+81insTTAAAAGAAAGACAC		CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	15/46					INFO_REALIGN_3_PRIME	chr1	TogoVar
CR2_chr1_207449328_207494892	207486230	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02970.hp1 NA18522.hp1 HG01891.hp1 HG02970.hp1 NA18522.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0003 a0001c0007t0001 a0001c0007t0003	a0001c0007t0001g0195 a0001c0007t0001g0207 a0001c0007t0003g0194 a0001c0007t0001g0195 a0001c0007t0001g0207 a0001c0007t0003g0194	3	159	0.0189	15	c.18 others(30): Show c.18+670_*18+684dupAAAAAAAAAAAAAAA		CR2	ENSG00000117322.19	transcript	ENST00000367057.8	protein_coding	19/19					INFO_REALIGN_3_PRIME	chr1	TogoVar
CRACDL_chr2_98788846_98941225	98795077	A A	ATATTTTT others(8): Show ATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA20805.hp2 NA18943.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0132 a0001c0001t0001g0107 a0001c0001t0001g0132	2	52	0.0385	15	c.275 others(32): Show c.2750-407_2750-406insAAAAAAAAAAAAATA		CRACDL	ENSG00000196872.12	transcript	ENST00000397899.7	protein_coding	9/9						chr2	TogoVar
CRACDL_chr2_98788846_98941225	98795077	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01168.hp1 HG00639.hp2 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0232 a0001c0001t0001g0075 a0001c0001t0001g0232	2	52	0.0385	15	c.275 others(32): Show c.2750-421_2750-407dupAAAAAAAAAAAAAAA		CRACDL	ENSG00000196872.12	transcript	ENST00000397899.7	protein_coding	9/9						chr2	TogoVar
CRACDL_chr2_98788846_98941225	98891376	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01433.hp1 HG01981.hp2 others(6): Show HG00423.hp2 HG01433.hp1 HG01981.hp2 HG02280.hp1 HG02615.hp1 HG02922.hp1 HG03688.hp1 NA18522.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0044 others(6): Show a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0069 a0001c0001t0001g0098 a0001c0001t0001g0228 a0001c0001t0001g0279 a0001c0001t0001g0280	9	96	0.0938	15	c.-11 others(34): Show c.-11+44547_-11+44561dupTTTTTTTTTTTTTTT		CRACDL	ENSG00000196872.12	transcript	ENST00000397899.7	protein_coding	1/9						chr2	TogoVar
CRACDL_chr2_98788846_98941225	98918539	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0012 a0003c0003t0002g0012	1	74	0.0135	15	c.-11 others(34): Show c.-11+17384_-11+17398dupTTTTTTTTTTTTTTT		CRACDL	ENSG00000196872.12	transcript	ENST00000397899.7	protein_coding	1/9						chr2	TogoVar
CRACD_chr4_56044098_56335609	56172020	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02717.hp1 HG02145.hp2 HG02717.hp1	a0005 a0013 a0005 a0013	a0005c0009 a0013c0019 a0005c0009 a0013c0019	a0005c0009t0003 a0013c0019t0011 a0005c0009t0003 a0013c0019t0011	a0005c0009t0003g0048 a0013c0019t0011g0041 a0005c0009t0003g0048 a0013c0019t0011g0041	2	92	0.0217	15	c.-33 others(34): Show c.-335-7263_-335-7249dupTTTTTTTTTTTTTTT		CRACD	ENSG00000109265.15	transcript	ENST00000682029.1	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
CRACD_chr4_56044098_56335609	56183235	A A	AAAAATAA others(8): Show AAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01433.hp2 HG02145.hp2 others(6): Show HG00741.hp2 HG01433.hp2 HG02145.hp2 HG02300.hp1 HG02647.hp1 HG02922.hp2 HG03098.hp1 HG03239.hp1 HG03654.hp1	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0013	a0001c0001 a0002c0002 a0008c0028 others(1): Show a0001c0001 a0002c0002 a0008c0028 a0013c0019	a0001c0001t0001 a0001c0001t0003 a0002c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0002 a0008c0028t0013 a0013c0019t0011	a0001c0001t0001g0102 a0001c0001t0003g0002 a0001c0001t0003g0054 others(6): Show a0001c0001t0001g0102 a0001c0001t0003g0002 a0001c0001t0003g0054 a0001c0001t0003g0197 a0001c0001t0003g0237 a0002c0002t0002g0156 a0002c0002t0002g0159 a0008c0028t0013g0109 a0013c0019t0011g0041	9	45	0.2000	15	c.-18 others(34): Show c.-189+3845_-189+3859dupTAAAATAAAATAAAA		CRACD	ENSG00000109265.15	transcript	ENST00000682029.1	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
CRACD_chr4_56044098_56335609	56218428	T T	TTCCCCTC others(8): Show TTCCCCTCCCTTTCCA	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0001 a0008c0014t0001	a0008c0014t0001g0169 a0008c0014t0001g0169	1	219	0.0046	15	c.-18 others(36): Show c.-189+39013_-189+39027dupATCCCCTCCCTTTCC		CRACD	ENSG00000109265.15	transcript	ENST00000682029.1	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
CRACD_chr4_56044098_56335609	56286525	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01069.hp1 HG01069.hp2 others(17): Show HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01109.hp1 HG01358.hp1 HG01496.hp1 HG01928.hp1 HG02602.hp2 HG03669.hp2 HG03704.hp2 HG04115.hp2 NA18945.hp2 NA18952.hp2 NA18971.hp2 NA19002.hp1 NA19005.hp1 NA19011.hp2 NA19066.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0026	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0026c0030	a0001c0001t0003 a0001c0001t0005 a0001c0001t0033 others(5): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0033 a0002c0002t0002 a0003c0003t0001 a0003c0003t0015 a0004c0004t0014 a0026c0030t0001	a0001c0001t0003g0006 a0001c0001t0003g0009 a0001c0001t0003g0012 others(17): Show a0001c0001t0003g0006 a0001c0001t0003g0009 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0157 a0001c0001t0003g0164 a0001c0001t0003g0179 a0001c0001t0005g0173 a0001c0001t0005g0174 a0001c0001t0033g0152 a0002c0002t0002g0106 a0002c0002t0002g0156 a0002c0002t0002g0172 a0002c0002t0002g0207 a0003c0003t0001g0198 a0003c0003t0001g0221 a0003c0003t0001g0222 a0003c0003t0015g0060 a0004c0004t0014g0163 a0026c0030t0001g0203	20	66	0.3030	15	c.-16 others(34): Show c.-16-11681_-16-11667dupAAAAAAAAAAAAAAA		CRACD	ENSG00000109265.15	transcript	ENST00000682029.1	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
CRACR2A_chr12_3610328_3758109	3621648	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01993.hp1 HG01993.hp2 others(10): Show HG00735.hp2 HG01993.hp1 HG01993.hp2 HG02055.hp1 HG02080.hp1 HG02132.hp2 HG03139.hp1 NA18969.hp2 NA18970.hp2 NA19009.hp1 NA19011.hp2 NA19074.hp2 NA19088.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0002c0002 a0004c0004 others(1): Show a0001c0001 a0002c0002 a0004c0004 a0005c0005	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0004c0004t0001 a0005c0005t0001	a0001c0001t0001g0095 a0001c0001t0001g0184 a0001c0001t0001g0186 others(10): Show a0001c0001t0001g0095 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0256 a0001c0001t0001g0316 a0001c0001t0003g0017 a0001c0001t0003g0018 a0002c0002t0001g0076 a0002c0002t0001g0166 a0002c0002t0001g0247 a0004c0004t0001g0284 a0005c0005t0001g0088 a0005c0005t0001g0240	13	34	0.3824	15	c.193 others(34): Show c.1933-2291_1933-2277dupTTTTTTTTTTTTTTT		CRACR2A	ENSG00000130038.10	transcript	ENST00000440314.7	protein_coding	17/19						chr12	TogoVar
CRACR2A_chr12_3610328_3758109	3639457	A A	ACACACAC others(8): Show ACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0274 a0003c0003t0001g0274	1	76	0.0132	15	c.127 others(34): Show c.1272-1004_1272-1003insGTGTGTGTGTGTGTG		CRACR2A	ENSG00000130038.10	transcript	ENST00000440314.7	protein_coding	13/19						chr12	TogoVar
CRACR2A_chr12_3610328_3758109	3666330	C C	CGTGTGTG others(8): Show CGTGTGTGTGTGTTGT	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0090 a0003c0003t0001g0090	1	230	0.0043	15	c.672 others(32): Show c.672-6677_672-6676insACAACACACACACAC		CRACR2A	ENSG00000130038.10	transcript	ENST00000440314.7	protein_coding	7/19						chr12	TogoVar
CRACR2A_chr12_3610328_3758109	3720416	G G	GAAGAAGA others(8): Show GAAGAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	65	0.0154	15	c.-11 others(34): Show c.-117-7100_-117-7099insTCTTTCTTTCTTCTT		CRACR2A	ENSG00000130038.10	transcript	ENST00000440314.7	protein_coding	2/19						chr12	TogoVar
CRACR2A_chr12_3610328_3758109	3745780	A A	AAAAATAA others(8): Show AAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01071.hp2 HG01261.hp2 others(20): Show HG00642.hp2 HG01071.hp2 HG01261.hp2 HG01358.hp1 HG01433.hp2 HG02055.hp2 HG02698.hp1 HG02698.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02976.hp2 HG03041.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03654.hp2 HG03704.hp1 NA18964.hp1 NA18974.hp1 NA18979.hp1 NA18998.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0006 a0015 a0029	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0006c0006 a0015c0013 a0029c0026	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0002 a0003c0003t0001 a0006c0006t0001 a0006c0006t0002 a0015c0013t0001 a0029c0026t0002	a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0036 others(20): Show a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0118 a0001c0001t0001g0135 a0001c0001t0001g0167 a0001c0001t0001g0267 a0001c0001t0001g0270 a0001c0001t0001g0277 a0001c0001t0001g0288 a0001c0001t0002g0269 a0001c0001t0002g0287 a0001c0001t0002g0306 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0003g0008 a0001c0001t0003g0016 a0002c0002t0002g0065 a0003c0003t0001g0274 a0006c0006t0001g0265 a0006c0006t0002g0225 a0015c0013t0001g0307 a0029c0026t0002g0092	23	152	0.1513	15	c.-38 others(34): Show c.-387+7220_-387+7234dupATTTTATTTTATTTT		CRACR2A	ENSG00000130038.10	transcript	ENST00000440314.7	protein_coding	1/19						chr12	TogoVar
CRAT_chr9_129089794_129115793	129097250	C C	CCGGTCGG others(8): Show CCGGTCGGTGTAGCCT	disruptive_inframe_insertion others(1): Show disruptive_inframe_insertion splice_region_variant	MODERATE	NA18988.hp1 NA18988.hp1	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0104 a0009c0012t0001g0104	1	418	0.0024	15	c.151 others(24): Show c.1512_1526dupAGGCTACACCGACCG	p.Arg others(28): Show p.Arg509_Ala510insGlyTyrThrAspArg	CRAT	ENSG00000095321.18	transcript	ENST00000318080.7	protein_coding	12/14	1810/2768	1526/1881	509/626			chr9	TogoVar
CRB1_chr1_197263252_197483455	197276183	A A	ATGCTGTA others(8): Show ATGCTGTATCCCATAC	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA20300.hp1 HG02818.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0167 a0001c0002t0001g0168 a0001c0001t0001g0167 a0001c0002t0001g0168	2	184	0.0109	15	c.70+ others(30): Show c.70+7728_70+7742dupATACTGCTGTATCCC		CRB1	ENSG00000134376.17	transcript	ENST00000367400.8	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
CRB1_chr1_197263252_197483455	197294591	A A	AGCATGCA others(8): Show AGCATGCACATGCTAT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	184	0.0054	15	c.70+ others(32): Show c.70+26109_70+26110insGCATGCACATGCTAT		CRB1	ENSG00000134376.17	transcript	ENST00000367400.8	protein_coding	1/11						chr1	TogoVar
CRB1_chr1_197263252_197483455	197319259	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02280.hp1 HG03098.hp1 HG01361.hp2 HG02280.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0050 a0001c0001t0001g0170 a0001c0002t0001g0169 a0001c0001t0001g0050 a0001c0001t0001g0170 a0001c0002t0001g0169	3	48	0.0625	15	c.71- others(30): Show c.71-9158_71-9144dupAAAAAAAAAAAAAAA		CRB1	ENSG00000134376.17	transcript	ENST00000367400.8	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
CRB1_chr1_197263252_197483455	197354823	C C	CCCCCCCC others(8): Show CCCCCCCCCCCGCCCA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	168	0.0060	15	c.989 others(32): Show c.989-2007_989-2006insCCCCCCCCCGCCCAC		CRB1	ENSG00000134376.17	transcript	ENST00000367400.8	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
CRB1_chr1_197263252_197483455	197354860	A A	ACCCCCAC others(8): Show ACCCCCACCCCCCCCG	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	81	0.0123	15	c.989 others(32): Show c.989-1968_989-1967insCCACCCCCCCCGCCC		CRB1	ENSG00000134376.17	transcript	ENST00000367400.8	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
CRB2_chr9_123351197_123383753	123359430	G G	GTTTGTTT others(8): Show GTTTGTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0087 a0001c0005t0001g0087	1	309	0.0032	15	c.94+ others(30): Show c.94+3079_94+3080insGTTTTTTTTTTTTTT		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(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02293.hp1 HG01993.hp1 HG02293.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0024 a0001c0005t0001g0024	2	310	0.0065	15	c.94+ others(30): Show c.94+3081_94+3082insTTTTTTTTTTTTTTT		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(8): Show GTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0033 a0001c0006t0002g0033	1	215	0.0047	15	c.17 others(26): Show c.1736_*1737insTTTTTTTTTTTTTTT		CRB2	ENSG00000148204.12	transcript	ENST00000373631.8	protein_coding					46		chr9	TogoVar
CRBN_chr3_3145011_3184691	3148962	A A	ATATTCTC others(8): Show ATATTCTCTAAAGATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(104): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00544.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00733.hp1 HG00735.hp1 HG01069.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01516.hp1 HG01884.hp2 HG01891.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02135.hp1 HG02165.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02615.hp2 HG02698.hp2 HG02717.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp2 HG03486.hp1 HG03654.hp2 HG03688.hp2 HG03710.hp1 HG03942.hp1 HG04204.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18940.hp1 NA18940.hp2 NA18943.hp1 NA18944.hp2 NA18949.hp1 NA18953.hp1 NA18956.hp2 NA18961.hp1 NA18964.hp1 NA18965.hp1 NA18967.hp1 NA18968.hp1 NA18973.hp2 NA18977.hp1 NA18986.hp2 NA18990.hp1 NA18993.hp2 NA19001.hp2 NA19004.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp1 NA19054.hp2 NA19055.hp1 NA19060.hp2 NA19066.hp1 NA19074.hp2 NA19084.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 others(4): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0003t0003 a0001c0003t0007 a0001c0004t0002 a0001c0004t0008	a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0020 others(46): Show a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0020 a0001c0001t0002g0025 a0001c0001t0002g0029 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0074 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0159 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0174 a0001c0001t0005g0014 a0001c0001t0005g0023 a0001c0001t0005g0050 a0001c0001t0005g0051 a0001c0001t0005g0092 a0001c0001t0005g0138 a0001c0001t0005g0168 a0001c0001t0005g0170 a0001c0001t0005g0173 a0001c0001t0009g0059 a0001c0001t0009g0140 a0001c0001t0009g0141 a0001c0001t0009g0142 a0001c0003t0003g0091 a0001c0003t0007g0008 a0001c0003t0007g0054 a0001c0004t0002g0026 a0001c0004t0002g0088 a0001c0004t0008g0094 a0001c0004t0008g0137	107	346	0.3092	15	c.18 others(26): Show c.1888_*1902dupAATCTTTAGAGAATA		CRBN	ENSG00000113851.16	transcript	ENST00000231948.9	protein_coding					1048		chr3	TogoVar

Search by Variant

Search

Search Results