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
CSF2RA_chrX_1263814_1314935	1298525	T T	TCTCCTAC others(16): Show TCTCCTACCCATGACCCCTGGCAG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01106.hp1 HG01175.hp1 others(22): Show HG00423.hp1 HG01106.hp1 HG01175.hp1 HG01346.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02273.hp1 HG02273.hp2 HG02683.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp1 NA18966.hp2 NA18975.hp2 NA18984.hp2 NA18998.hp2 NA19010.hp2 NA19011.hp1 NA19063.hp1 NA19080.hp2 NA19082.hp1 NA19091.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0013 others(1): Show a0001c0001 a0001c0002 a0001c0013 a0002c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0002t0004 a0001c0013t0003 a0002c0011t0004	a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0019 others(22): Show a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0068 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0102 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0078 a0001c0001t0003g0001 a0001c0001t0003g0087 a0001c0001t0004g0035 a0001c0001t0004g0042 a0001c0001t0004g0073 a0001c0001t0004g0091 a0001c0001t0004g0115 a0001c0001t0008g0121 a0001c0002t0004g0043 a0001c0002t0004g0052 a0001c0002t0004g0053 a0001c0013t0003g0081 a0002c0011t0004g0074	25	146	0.1712	23	c.811 others(40): Show c.811-1966_811-1965insCTCCTACCCATGACCCCTGGCAG		CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12						chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1298572	C C	CCCTACTC others(16): Show CCCTACTCACGACCCCTACAGTCT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02809.hp1 HG03041.hp1 others(1): Show HG01891.hp1 HG02809.hp1 HG03041.hp1 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0002 a0002c0003t0005 a0001c0001t0002 a0002c0003t0002 a0002c0003t0005	a0001c0001t0002g0032 a0002c0003t0002g0006 a0002c0003t0005g0005 others(1): Show a0001c0001t0002g0032 a0002c0003t0002g0006 a0002c0003t0005g0005 a0002c0003t0005g0138	4	86	0.0465	23	c.811 others(40): Show c.811-1914_811-1913insTCACGACCCCTACAGTCTCCTAC		CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12					INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF3R_chr1_36461043_36487913	36464059	A A	ATCTCCCC others(16): Show ATCTCCCCTACTCCTGTGCTTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00438.hp2 HG00609.hp1 others(80): Show HG00099.hp1 HG00438.hp2 HG00609.hp1 HG00609.hp2 HG00673.hp2 HG00733.hp2 HG00738.hp2 HG01106.hp1 HG01123.hp2 HG01243.hp1 HG01256.hp1 HG01346.hp2 HG01358.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02258.hp2 HG02273.hp2 HG02523.hp2 HG02615.hp1 HG02738.hp2 HG02809.hp2 HG02965.hp1 HG03041.hp1 HG03041.hp2 HG03225.hp1 HG03239.hp1 HG03540.hp2 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18944.hp1 NA18945.hp1 NA18948.hp2 NA18950.hp1 NA18955.hp1 NA18960.hp1 NA18962.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp2 NA18972.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18978.hp1 NA18979.hp2 NA18981.hp1 NA18984.hp2 NA18989.hp1 NA18993.hp1 NA18998.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19007.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19062.hp2 NA19065.hp1 NA19066.hp1 NA19077.hp2 NA19079.hp1 NA19084.hp2 NA19088.hp1 NA20752.hp1 NA20805.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0012 a0001c0013	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0012t0001 a0001c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(38): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0066 a0001c0001t0001g0094 a0001c0001t0001g0101 a0001c0001t0001g0106 a0001c0001t0001g0115 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0198 a0001c0002t0001g0028 a0001c0003t0001g0117 a0001c0012t0001g0176 a0001c0013t0001g0178	83	416	0.1995	23	c.22 others(34): Show c.2275_*2297dupAGGAAGCACAGGAGTAGGGGAGA		CSF3R	ENSG00000119535.20	transcript	ENST00000373106.6	protein_coding					1983		chr1	TogoVar
CSGALNACT1_chr8_19399161_19762277	19485759	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG04204.hp1 HG02622.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0047 a0001c0007t0021 a0001c0002t0047 a0001c0007t0021	a0001c0002t0047g0197 a0001c0007t0021g0030 a0001c0002t0047g0197 a0001c0007t0021g0030	2	43	0.0465	23	c.634 others(42): Show c.634+19419_634+19441dupAAAAAAAAAAAAAAAAAAAAAAA		CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	3/8						chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19541553	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03669.hp1 NA19030.hp1 HG02055.hp1 HG03669.hp1 NA19030.hp1	a0001 a0014 a0001 a0014	a0001c0001 a0001c0002 a0014c0013 a0001c0001 a0001c0002 a0014c0013	a0001c0001t0002 a0001c0002t0006 a0014c0013t0004 a0001c0001t0002 a0001c0002t0006 a0014c0013t0004	a0001c0001t0002g0204 a0001c0002t0006g0045 a0014c0013t0004g0220 a0001c0001t0002g0204 a0001c0002t0006g0045 a0014c0013t0004g0220	3	76	0.0395	23	c.-29 others(44): Show c.-296-35446_-296-35424dupAAAAAAAAAAAAAAAAAAAAAAA		CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8						chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19577401	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG03471.hp1 HG00738.hp1 HG03471.hp1	a0002 a0005 a0002 a0005	a0002c0004 a0005c0011 a0002c0004 a0005c0011	a0002c0004t0005 a0005c0011t0003 a0002c0004t0005 a0005c0011t0003	a0002c0004t0005g0015 a0005c0011t0003g0181 a0002c0004t0005g0015 a0005c0011t0003g0181	2	219	0.0091	23	c.-29 others(44): Show c.-297+24369_-297+24370insTTTTTTTTTTTTTTTTTTTTTTT		CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8						chr8	TogoVar
CSH1_chr17_63889918_63901574	63898144	T T	TTCTTTCT others(16): Show TTCTTTCTTTCTTTCTTTCTCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	248	0.0040	23	c.-16 others(34): Show c.-1634_-1633insGAAGAGAAAGAAAGAAAGAAAGA		CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding					1571		chr17	TogoVar
CSH1_chr17_63889918_63901574	63898195	T T	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	426	0.0023	23	c.-16 others(34): Show c.-1685_-1684insGAAAGAAAGAAAGAAAGAAAGAA		CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding					1622		chr17	TogoVar
CSK_chr15_74777080_74808197	74786013	T T	TTTTTTTT others(16): Show TTTTTTTTTTTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0004 a0001c0008t0004	a0001c0008t0004g0137 a0001c0008t0004g0137	1	164	0.0061	23	c.-66 others(40): Show c.-66+3294_-66+3295insTTTTTTTTTGTGTGTGTGTGTGT		CSK	ENSG00000103653.17	transcript	ENST00000220003.14	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr15	TogoVar
CSK_chr15_74777080_74808197	74786013	T T	TTTTTTTT others(16): Show TTTTTTTTTTTTTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG03098.hp2 NA18954.hp1 HG02132.hp2 HG03098.hp2 NA18954.hp1	a0001 a0001	a0001c0004 a0001c0005 a0001c0004 a0001c0005	a0001c0004t0004 a0001c0005t0005 a0001c0004t0004 a0001c0005t0005	a0001c0004t0004g0149 a0001c0005t0005g0055 a0001c0005t0005g0056 a0001c0004t0004g0149 a0001c0005t0005g0055 a0001c0005t0005g0056	3	166	0.0181	23	c.-66 others(40): Show c.-66+3294_-66+3295insTTTTTTTTTTTGTGTGTGTGTGT		CSK	ENSG00000103653.17	transcript	ENST00000220003.14	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr15	TogoVar
CSMD1_chr8_2930361_4999914	3155359	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG03669.hp1 HG01934.hp2 HG03669.hp1	a0001 a0003 a0001 a0003	a0001c0006 a0003c0099 a0001c0006 a0003c0099	a0001c0006t0002 a0003c0099t0012 a0001c0006t0002 a0003c0099t0012	a0001c0006t0002g0109 a0003c0099t0012g0020 a0001c0006t0002g0109 a0003c0099t0012g0020	2	7	0.2857	23	c.591 others(42): Show c.5914+2515_5914+2537dupAAAAAAAAAAAAAAAAAAAAAAA		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	39/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	3439309	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0039 a0039	a0039c0010 a0039c0010	a0039c0010t0068 a0039c0010t0068	a0039c0010t0068g0084 a0039c0010t0068g0084	1	45	0.0222	23	c.156 others(44): Show c.1561+29402_1561+29403insATATATATATATATATATATATA		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	3439309	A A	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0032 a0002c0032	a0002c0032t0053 a0002c0032t0053	a0002c0032t0053g0061 a0002c0032t0053g0061	1	45	0.0222	23	c.156 others(44): Show c.1561+29402_1561+29403insAAAAAAATATATATATATATATA		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	3709680	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0109 a0001c0006t0002g0109	1	37	0.0270	23	c.932 others(40): Show c.932-1212_932-1190dupAAAAAAAAAAAAAAAAAAAAAAA		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	6/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	3796024	T T	TATAGATA others(16): Show TATAGATATAGATATATATCTATC	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA18971.hp1 HG02886.hp1 NA18971.hp1	a0001 a0002 a0001 a0002	a0001c0039 a0002c0077 a0001c0039 a0002c0077	a0001c0039t0064 a0002c0077t0001 a0001c0039t0064 a0002c0077t0001	a0001c0039t0064g0080 a0002c0077t0001g0016 a0001c0039t0064g0080 a0002c0077t0001g0016	2	72	0.0278	23	c.819 others(42): Show c.819-42005_819-41983dupGATAGATATATATCTATATCTAT		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	3796289	G G	GATATAGA others(16): Show GATATAGATATCTATCATGTATAC	intron_variant intron_variant	MODIFIER	HG00735.hp2 NA18906.hp2 HG00735.hp2 NA18906.hp2	a0001 a0006 a0001 a0006	a0001c0073 a0006c0067 a0001c0073 a0006c0067	a0001c0073t0006 a0006c0067t0059 a0001c0073t0006 a0006c0067t0059	a0001c0073t0006g0108 a0006c0067t0059g0079 a0001c0073t0006g0108 a0006c0067t0059g0079	2	116	0.0172	23	c.819 others(42): Show c.819-42248_819-42247insGTATACATGATAGATATCTATAT		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	3796341	T T	TATATCTA others(16): Show TATATCTATCATGTATAGATATAG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0093 a0001c0093	a0001c0093t0009 a0001c0093t0009	a0001c0093t0009g0007 a0001c0093t0009g0007	1	125	0.0080	23	c.819 others(42): Show c.819-42322_819-42300dupCTATATCTATACATGATAGATAT		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	3838534	A A	ACTCTCTG others(16): Show ACTCTCTGTAGATATATATATAGT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03540.hp2 NA18984.hp1 HG02615.hp2 HG03540.hp2 NA18984.hp1	a0001 a0031 a0001 a0031	a0001c0004 a0001c0059 a0031c0113 a0001c0004 a0001c0059 a0031c0113	a0001c0004t0063 a0001c0059t0001 a0031c0113t0013 a0001c0004t0063 a0001c0059t0001 a0031c0113t0013	a0001c0004t0063g0095 a0001c0059t0001g0036 a0031c0113t0013g0043 a0001c0004t0063g0095 a0001c0059t0001g0036 a0031c0113t0013g0043	3	126	0.0238	23	c.819 others(42): Show c.819-84493_819-84492insACTATATATATATCTACAGAGAG		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	3926092	C C	CACACACA others(16): Show CACACACACACAAACACCATACAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0020 a0020	a0020c0112 a0020c0112	a0020c0112t0081 a0020c0112t0081	a0020c0112t0081g0090 a0020c0112t0081g0090	1	125	0.0080	23	c.818 others(42): Show c.818+71810_818+71811insATGTATGGTGTTTGTGTGTGTGT		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	4390497	T T	TTTATTTA others(16): Show TTTATTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0019 a0001c0040t0019	a0001c0040t0019g0123 a0001c0040t0019g0123	1	23	0.0435	23	c.415 others(42): Show c.415+29455_415+29456insTAAATAAATAAATAAATAAATAA		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	4390497	T T	TTTTTTTA others(16): Show TTTTTTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01261.hp2 HG02257.hp1 others(11): Show HG00099.hp2 HG01261.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp2 HG03098.hp1 HG03225.hp1 HG03669.hp2 HG04228.hp2 HG06807.hp2 NA18983.hp2 NA19060.hp1 NA19090.hp1 NA19240.hp1	a0001 a0002 a0008 others(2): Show a0001 a0002 a0008 a0015 a0016	a0001c0001 a0001c0002 a0001c0005 others(11): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0001c0017 a0001c0068 a0001c0085 a0001c0102 a0001c0105 a0002c0012 a0002c0075 a0008c0088 a0015c0063 a0016c0028	a0001c0001t0038 a0001c0002t0026 a0001c0005t0006 others(11): Show a0001c0001t0038 a0001c0002t0026 a0001c0005t0006 a0001c0007t0001 a0001c0017t0005 a0001c0068t0015 a0001c0085t0020 a0001c0102t0005 a0001c0105t0001 a0002c0012t0016 a0002c0075t0028 a0008c0088t0076 a0015c0063t0010 a0016c0028t0024	a0001c0001t0038g0017 a0001c0002t0026g0005 a0001c0005t0006g0070 others(11): Show a0001c0001t0038g0017 a0001c0002t0026g0005 a0001c0005t0006g0070 a0001c0007t0001g0035 a0001c0017t0005g0003 a0001c0068t0015g0049 a0001c0085t0020g0060 a0001c0102t0005g0034 a0001c0105t0001g0029 a0002c0012t0016g0088 a0002c0075t0028g0051 a0008c0088t0076g0057 a0015c0063t0010g0045 a0016c0028t0024g0040	14	36	0.3889	23	c.415 others(42): Show c.415+29455_415+29456insTAAATAAATAAATAAATAAAAAA		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	4441095	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG04204.hp1 HG00735.hp1 HG04204.hp1	a0011 a0034 a0011 a0034	a0011c0016 a0034c0055 a0011c0016 a0034c0055	a0011c0016t0048 a0034c0055t0034 a0011c0016t0048 a0034c0055t0034	a0011c0016t0048g0106 a0034c0055t0034g0047 a0011c0016t0048g0106 a0034c0055t0034g0047	2	33	0.0606	23	c.303 others(42): Show c.303-21053_303-21031dupAAAAAAAAAAAAAAAAAAAAAAA		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	4444346	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0039 a0039	a0039c0010 a0039c0010	a0039c0010t0068 a0039c0010t0068	a0039c0010t0068g0084 a0039c0010t0068g0084	1	15	0.0667	23	c.303 others(42): Show c.303-24304_303-24282dupTTTTTTTTTTTTTTTTTTTTTTT		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	4764885	A A	ACAAAAAA others(16): Show ACAAAAAAAAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00438.hp2 others(17): Show HG00099.hp2 HG00423.hp2 HG00438.hp2 HG01081.hp1 HG01261.hp2 HG01934.hp1 HG02056.hp2 HG02280.hp1 HG02647.hp1 HG02683.hp1 HG03669.hp1 HG03710.hp1 HG04204.hp2 HG04228.hp2 NA18971.hp1 NA18983.hp2 NA18984.hp1 NA18995.hp2 NA19060.hp1 NA19074.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0013 a0015 a0037	a0001c0001 a0001c0003 a0001c0005 others(16): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0021 a0001c0059 a0001c0071 a0001c0081 a0001c0090 a0001c0105 a0002c0012 a0002c0053 a0002c0077 a0002c0089 a0004c0058 a0013c0018 a0015c0063 a0037c0009	a0001c0001t0002 a0001c0003t0019 a0001c0005t0006 others(17): Show a0001c0001t0002 a0001c0003t0019 a0001c0005t0006 a0001c0006t0002 a0001c0006t0060 a0001c0007t0001 a0001c0021t0005 a0001c0059t0001 a0001c0071t0067 a0001c0081t0036 a0001c0090t0001 a0001c0105t0001 a0002c0012t0016 a0002c0053t0022 a0002c0077t0001 a0002c0089t0001 a0004c0058t0056 a0013c0018t0058 a0015c0063t0010 a0037c0009t0001	a0001c0001t0002g0102 a0001c0003t0019g0107 a0001c0005t0006g0070 others(17): Show a0001c0001t0002g0102 a0001c0003t0019g0107 a0001c0005t0006g0070 a0001c0006t0002g0109 a0001c0006t0060g0103 a0001c0007t0001g0035 a0001c0021t0005g0012 a0001c0059t0001g0036 a0001c0071t0067g0115 a0001c0081t0036g0030 a0001c0090t0001g0027 a0001c0105t0001g0029 a0002c0012t0016g0088 a0002c0053t0022g0041 a0002c0077t0001g0016 a0002c0089t0001g0037 a0004c0058t0056g0117 a0013c0018t0058g0068 a0015c0063t0010g0045 a0037c0009t0001g0002	20	123	0.1626	23	c.86- others(42): Show c.86-127328_86-127327insGTTTTGTTTTGTTTTTTTTTTTG		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69						chr8	TogoVar
CSMD2_chr1_33508998_34170230	34076928	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02723.hp2 NA18906.hp2 HG01069.hp1 HG02723.hp2 NA18906.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0044 a0003c0037 a0005c0015 a0001c0044 a0003c0037 a0005c0015	a0001c0044t0002 a0003c0037t0007 a0005c0015t0001 a0001c0044t0002 a0003c0037t0007 a0005c0015t0001	a0001c0044t0002g0026 a0003c0037t0007g0038 a0005c0015t0001g0022 a0001c0044t0002g0026 a0003c0037t0007g0038 a0005c0015t0001g0022	3	40	0.0750	23	c.404 others(42): Show c.404+12048_404+12049insATATATTTTTTTTTTTTTTTTTT		CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	2/70						chr1	TogoVar
CSMD3_chr8_112217928_113441939	112270363	T T	TGTGTGTG others(16): Show TGTGTGTGTGTGTGTTAGGGGTGA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0035 a0002c0005t0001g0035	1	77	0.0130	23	c.950 others(42): Show c.9509-4774_9509-4773insTCACCCCTAACACACACACACAC		CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	59/70						chr8	TogoVar
CSMD3_chr8_112217928_113441939	112405213	C C	CATATATA others(16): Show CATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03041.hp2 HG03516.hp1 HG02717.hp1 HG03041.hp2 HG03516.hp1	a0007 a0017 a0007 a0017	a0007c0012 a0007c0013 a0017c0026 a0007c0012 a0007c0013 a0017c0026	a0007c0012t0001 a0007c0013t0001 a0017c0026t0001 a0007c0012t0001 a0007c0013t0001 a0017c0026t0001	a0007c0012t0001g0038 a0007c0013t0001g0039 a0017c0026t0001g0056 a0007c0012t0001g0038 a0007c0013t0001g0039 a0017c0026t0001g0056	3	58	0.0517	23	c.580 others(42): Show c.5809+1310_5809+1311insCATATATATATATATATATATAT		CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	35/70						chr8	TogoVar
CSNK1E_chr22_38285691_38322433	38303548	C C	CAGACCAC others(16): Show CAGACCACCTAAGGGAGGGGGCTG	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0146 a0001c0001t0051g0146	1	410	0.0024	23	c.77- others(36): Show c.77-323_77-301dupCAGCCCCCTCCCTTAGGTGGTCT		CSNK1E	ENSG00000213923.13	transcript	ENST00000396832.6	protein_coding	2/10						chr22	TogoVar
CSNK1G1_chr15_64160525_64361173	64229902	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	12	0.0833	23	c.293 others(42): Show c.293-13212_293-13190dupAAAAAAAAAAAAAAAAAAAAAAA		CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	4/11						chr15	TogoVar
CSNK1G1_chr15_64160525_64361173	64238518	A A	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0112 a0001c0001t0007g0112	1	47	0.0213	23	c.292 others(42): Show c.292+12993_292+12994insATATATATATATATATATTTTTT		CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	4/11						chr15	TogoVar
CSNK1G1_chr15_64160525_64361173	64238518	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0173 a0001c0001t0026g0173	1	47	0.0213	23	c.292 others(42): Show c.292+12993_292+12994insATATATATATATATATATATATA		CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	4/11						chr15	TogoVar
CSNK1G2_chr19_1936172_1986338	1939438	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp2 HG01516.hp1 HG01928.hp1 others(1): Show HG01169.hp2 HG01516.hp1 HG01928.hp1 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0173 a0001c0001t0001g0212 others(1): Show a0001c0001t0001g0071 a0001c0001t0001g0173 a0001c0001t0001g0212 a0001c0001t0001g0226	4	161	0.0248	23	c.-22 others(34): Show c.-2246_-2245insTTTTTTTTTTTTTTTTTTTTTTT		CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding					1733		chr19	TogoVar
CSNK2A1_chr20_467498_548790	485101	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0165 a0001c0001t0004g0165	1	240	0.0042	23	c.106 others(42): Show c.1061-1026_1061-1025insATATATATATATATATATATATA		CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13						chr20	TogoVar
CSNK2A1_chr20_467498_548790	485103	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0230 a0001c0001t0009g0230	1	221	0.0045	23	c.106 others(42): Show c.1061-1028_1061-1027insATATATATATATATATATATATA		CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13						chr20	TogoVar
CSNK2A1_chr20_467498_548790	485105	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	203	0.0049	23	c.106 others(42): Show c.1061-1030_1061-1029insATATATATATATATATATATATA		CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13						chr20	TogoVar
CSNK2A1_chr20_467498_548790	485109	A A	AAAAATAT others(16): Show AAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02145.hp1 HG01346.hp2 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0016 a0001c0001t0004 a0001c0001t0016	a0001c0001t0004g0236 a0001c0001t0016g0026 a0001c0001t0004g0236 a0001c0001t0016g0026	2	128	0.0156	23	c.106 others(42): Show c.1061-1034_1061-1033insATATATATATATATATATATTTT		CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13						chr20	TogoVar
CSNK2A1_chr20_467498_548790	485109	A A	AAATATAT others(16): Show AAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	127	0.0079	23	c.106 others(42): Show c.1061-1034_1061-1033insATATATATATATATATATATATT		CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13						chr20	TogoVar
CSNK2A1_chr20_467498_548790	485109	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0070	a0001c0001t0070g0082 a0001c0001t0070g0082	1	127	0.0079	23	c.106 others(42): Show c.1061-1034_1061-1033insATATATATATATATATATATATA		CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13						chr20	TogoVar
CSNK2A1_chr20_467498_548790	523858	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0093 a0001c0004t0093	a0001c0004t0093g0005 a0001c0004t0093g0005	1	226	0.0044	23	c.-11 others(42): Show c.-110+4052_-110+4074dupTTTTTTTTTTTTTTTTTTTTTTT		CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	2/13						chr20	TogoVar
CSNK2A2_chr16_58152907_58203106	58171979	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp2 NA19060.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0205 a0001c0001t0001g0104 a0001c0001t0001g0205	2	254	0.0079	23	c.429 others(40): Show c.429+2471_429+2472insATATATATATATATATATATATA		CSNK2A2	ENSG00000070770.10	transcript	ENST00000262506.8	protein_coding	5/11						chr16	TogoVar
CSNK2A2_chr16_58152907_58203106	58171980	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02155.hp1 NA19012.hp2 HG02109.hp1 HG02155.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0275 a0001c0001t0001g0279 a0001c0001t0001g0214 a0001c0001t0001g0275 a0001c0001t0001g0279	3	319	0.0094	23	c.429 others(40): Show c.429+2470_429+2471insTATATATATATATATATATATAT		CSNK2A2	ENSG00000070770.10	transcript	ENST00000262506.8	protein_coding	5/11						chr16	TogoVar
CSPP1_chr8_67059392_67201614	67159956	T T	TTTCTTTT others(16): Show TTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG03225.hp2 NA20752.hp1 HG01978.hp2 HG03225.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0045 a0001c0001t0001g0059 a0001c0001t0001g0004 a0001c0001t0001g0045 a0001c0001t0001g0059	3	117	0.0256	23	c.253 others(40): Show c.2538+819_2538+820insTTCTTTTCTTTTCTTTTCTTTTC		CSPP1	ENSG00000104218.16	transcript	ENST00000678616.1	protein_coding	21/30						chr8	TogoVar
CSRNP3_chr2_165464698_165694407	165666542	A A	AAAGAGAG others(16): Show AAAGAGAGAGGAAAACAGAAAGAG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0114 a0001c0001t0004g0114	1	100	0.0100	23	c.408 others(40): Show c.408+8523_408+8524insAGAGAGAGGAAAACAGAAAGAGA		CSRNP3	ENSG00000178662.16	transcript	ENST00000651982.1	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr2	TogoVar
CSTF1_chr20_56387645_56411362	56404812	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01109.hp1 HG02717.hp2 HG02723.hp2 others(6): Show HG01109.hp1 HG02717.hp2 HG02723.hp2 HG02818.hp1 HG03540.hp1 NA18522.hp1 NA19030.hp2 NA19043.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0020 a0001c0001t0050 a0001c0001t0011 a0001c0001t0020 a0001c0001t0050	a0001c0001t0011g0001 a0001c0001t0011g0028 a0001c0001t0011g0033 others(3): Show a0001c0001t0011g0001 a0001c0001t0011g0028 a0001c0001t0011g0033 a0001c0001t0011g0043 a0001c0001t0020g0010 a0001c0001t0050g0086	9	39	0.2308	23	c.10 others(34): Show c.1089_*1111dupTTTTTTTTTTTTTTTTTTTTTTT		CSTF1	ENSG00000101138.12	transcript	ENST00000217109.9	protein_coding	6/6				1112	INFO_REALIGN_3_PRIME	chr20	TogoVar
CSTPP1_chr11_46931761_47167247	47039443	C C	CAGAGGGA others(16): Show CAGAGGGAGACCGTGGAGAGAGGG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	222	0.0045	23	c.150 others(42): Show c.150-12929_150-12907dupAGAGAGGGAGAGGGAGACCGTGG		CSTPP1	ENSG00000149179.14	transcript	ENST00000278460.12	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
CSTPP1_chr11_46931761_47167247	47101164	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	90	0.0111	23	c.281 others(42): Show c.281-36478_281-36456dupTTTTTTTTTTTTTTTTTTTTTTT		CSTPP1	ENSG00000149179.14	transcript	ENST00000278460.12	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
CT45A5_chrX_135770852_135790503	135786663	A A	AGAAAGAA others(16): Show AGAAAGAAAGAAAGAAAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	130	0.0077	23	c.-14 others(34): Show c.-1434_-1433insCTCTCTCTTTCTTTCTTTCTTTC		CT45A5	ENSG00000228836.9	transcript	ENST00000698999.1	protein_coding					1161		chrX	TogoVar
CTBP2_chr10_124979317_125033071	125027267	A A	ACAGGTGA others(16): Show ACAGGTGACCGGCGTCCTGCAGGG	frameshift_variant frameshift_variant	HIGH	HG00597.hp2 HG00597.hp2	a0015 a0015	a0015c0022 a0015c0022	a0015c0022t0002 a0015c0022t0002	a0015c0022t0002g0160 a0015c0022t0002g0160	1	378	0.0026	23	c.470 others(30): Show c.470_492dupCCCTGCAGGACGCCGGTCACCTG	p.Tyr others(5): Show p.Tyr165fs	CTBP2	ENSG00000175029.17	transcript	ENST00000309035.11	protein_coding	1/9	804/8471	492/2958	164/985			chr10	TogoVar
CTDSP2_chr12_57814927_57851729	57818182	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	21	0.0476	23	c.53 others(34): Show c.5397_*5419dupAAAAAAAAAAAAAAAAAAAAAAA		CTDSP2	ENSG00000175215.11	transcript	ENST00000398073.7	protein_coding					1744		chr12	TogoVar
CTH_chr1_70406268_70444851	70443051	C C	CCTTAATA others(16): Show CCTTAATACTATTAAGATGCAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	187	0.0053	23	c.39 others(34): Show c.3924_*3925insCTTAATACTATTAAGATGCAAAT		CTH	ENSG00000116761.12	transcript	ENST00000370938.8	protein_coding					3201		chr1	TogoVar

Search by Variant

Search

Search Results