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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RXFP1_chr4_158516882_158658372	158527564	A A	AAAAATAT others(6): Show AAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	210	0.0048	13	c.49+ others(28): Show c.49+5540_49+5541insAAATATATATATA	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXFP1_chr4_158516882_158658372	158527564	A A	AAATATAT others(6): Show AAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	210	0.0048	13	c.49+ others(28): Show c.49+5540_49+5541insATATATATATATA	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXFP1_chr4_158516882_158658372	158542109	A A	ATATATAT others(6): Show ATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	210	0.0048	13	c.49+ others(30): Show c.49+20085_49+20086insATATATATATTTT	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXFP1_chr4_158516882_158658372	158542109	A A	ATATATAT others(6): Show ATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03098.hp1 HG02809.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0025 a0001c0001t0001g0026	2	210	0.0095	13	c.49+ others(30): Show c.49+20085_49+20086insATATATATTTTTT	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXFP1_chr4_158516882_158658372	158623502	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	210	0.0048	13	c.756 others(30): Show c.756-3306_756-3294dupAAAAAAAAAAAAA	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RYK_chr3_134152133_134255859	134204591	C C	CCACAGCA others(6): Show CCACAGCACACACA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18944.hp2 NA19000.hp1 NA18747.hp1 NA18944.hp2 NA19000.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0009 a0002c0002t0001 a0002c0002t0009	a0002c0002t0001g0232 a0002c0002t0001g0285 a0002c0002t0009g0290 a0002c0002t0001g0232 a0002c0002t0001g0285 a0002c0002t0009g0290	3	376	0.0080	13	c.644 others(30): Show c.644-1718_644-1717insTGTGTGTGCTGTG	RYK	ENSG00000163785.14	transcript	ENST00000623711.4	protein_coding	5/14			chr3	TogoVar
RYK_chr3_134152133_134255859	134249917	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0007	a0003c0004t0007g0011 a0003c0004t0007g0011	1	376	0.0027	13	c.232 others(28): Show c.232+493_232+505dupAAAAAAAAAAAAA	RYK	ENSG00000163785.14	transcript	ENST00000623711.4	protein_coding	1/14			chr3	TogoVar
RYR1_chr19_38428691_38592564	38463151	C C	CCCCCCCC others(6): Show CCCCCCCCCCCCCG	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0001 a0001c0032t0001	a0001c0032t0001g0180 a0001c0032t0001g0180	1	218	0.0046	13	c.257 others(30): Show c.2578-268_2578-267insCCCCCCCCGCCCC	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	20/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR1_chr19_38428691_38592564	38551025	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0001 a0004c0013t0001	a0004c0013t0001g0187 a0004c0013t0001g0187	1	218	0.0046	13	c.122 others(34): Show c.12282+2632_12282+2644dupTTTTTTTTTTTTT	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	89/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR1_chr19_38428691_38592564	38590386	A A	ATATATAT others(6): Show ATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0002 a0002	a0002c0098 a0002c0098	a0002c0098t0001 a0002c0098t0001	a0002c0098t0001g0078 a0002c0098t0001g0078	1	218	0.0046	13	c.29 others(24): Show c.2966_*2967insTATATATATATAT	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding		2823		chr19	TogoVar
RYR2_chr1_237037184_237838988	237039710	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0001 a0001c0001t0041g0001	1	100	0.0100	13	c.-28 others(24): Show c.-2812_-2811insTTTTTTTTTTTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding		2473		chr1	TogoVar
RYR2_chr1_237037184_237838988	237065269	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0027 a0001c0008t0027	a0001c0008t0027g0081 a0001c0008t0027g0081	1	100	0.0100	13	c.48+ others(30): Show c.48+22715_48+22727dupTTTTTTTTTTTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237107519	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00741.hp2 HG01081.hp2 others(13): Show HG00280.hp2 HG00741.hp2 HG01081.hp2 HG01099.hp1 HG01175.hp1 HG01261.hp1 HG01361.hp1 HG01496.hp2 HG01928.hp1 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG03209.hp2 HG03831.hp2 NA19066.hp1 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0001c0004 others(9): Show a0001c0002 a0001c0003 a0001c0004 a0001c0027 a0001c0040 a0001c0042 a0001c0044 a0001c0047 a0002c0009 a0002c0039 a0003c0013 a0003c0021	a0001c0002t0003 a0001c0003t0001 a0001c0003t0002 others(12): Show a0001c0002t0003 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0005 a0001c0004t0020 a0001c0027t0002 a0001c0040t0039 a0001c0042t0017 a0001c0044t0002 a0001c0047t0002 a0002c0009t0004 a0002c0039t0036 a0003c0013t0003 a0003c0021t0001	a0001c0002t0003g0052 a0001c0003t0001g0063 a0001c0003t0001g0078 others(13): Show a0001c0002t0003g0052 a0001c0003t0001g0063 a0001c0003t0001g0078 a0001c0003t0002g0087 a0001c0003t0003g0084 a0001c0003t0005g0018 a0001c0004t0020g0093 a0001c0027t0002g0085 a0001c0040t0039g0095 a0001c0042t0017g0050 a0001c0044t0002g0014 a0001c0047t0002g0077 a0002c0009t0004g0067 a0002c0039t0036g0030 a0003c0013t0003g0086 a0003c0021t0001g0019	16	100	0.1600	13	c.48+ others(30): Show c.48+64955_48+64967dupAAAAAAAAAAAAA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237148525	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0083 a0003c0006t0001g0083	1	100	0.0100	13	c.48+ others(32): Show c.48+105956_48+105957insTATATATATATAT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104			chr1	TogoVar
RYR2_chr1_237037184_237838988	237148527	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0031 a0002c0031	a0002c0031t0025 a0002c0031t0025	a0002c0031t0025g0056 a0002c0031t0025g0056	1	100	0.0100	13	c.48+ others(32): Show c.48+105958_48+105959insTATATATATATAT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104			chr1	TogoVar
RYR2_chr1_237037184_237838988	237193167	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02055.hp2 HG02523.hp1 others(6): Show HG01261.hp2 HG02055.hp2 HG02523.hp1 HG03098.hp2 HG03486.hp2 NA18946.hp2 NA19043.hp2 NA19066.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0008 a0001c0011 a0001c0017	a0001c0001t0015 a0001c0001t0041 a0001c0002t0003 others(6): Show a0001c0001t0015 a0001c0001t0041 a0001c0002t0003 a0001c0004t0004 a0001c0004t0018 a0001c0007t0001 a0001c0008t0028 a0001c0011t0004 a0001c0017t0037	a0001c0001t0015g0069 a0001c0001t0041g0001 a0001c0002t0003g0008 others(6): Show a0001c0001t0015g0069 a0001c0001t0041g0001 a0001c0002t0003g0008 a0001c0004t0004g0009 a0001c0004t0018g0047 a0001c0007t0001g0020 a0001c0008t0028g0039 a0001c0011t0004g0064 a0001c0017t0037g0032	9	100	0.0900	13	c.49- others(30): Show c.49-77329_49-77317dupAAAAAAAAAAAAA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237230927	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0070 a0001c0002t0001g0070	1	100	0.0100	13	c.49- others(30): Show c.49-39568_49-39556dupAAAAAAAAAAAAA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237262245	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02572.hp1 NA19066.hp1 HG01243.hp1 HG02572.hp1 NA19066.hp1	a0001 a0002 a0001 a0002	a0001c0030 a0002c0009 a0002c0038 a0001c0030 a0002c0009 a0002c0038	a0001c0030t0005 a0002c0009t0004 a0002c0038t0043 a0001c0030t0005 a0002c0009t0004 a0002c0038t0043	a0001c0030t0005g0053 a0002c0009t0004g0067 a0002c0038t0043g0096 a0001c0030t0005g0053 a0002c0009t0004g0067 a0002c0038t0043g0096	3	100	0.0300	13	c.49- others(28): Show c.49-8237_49-8225dupTTTTTTTTTTTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237346367	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0008 a0001c0002t0003g0008	1	100	0.0100	13	c.274 others(30): Show c.274-9593_274-9581dupAAAAAAAAAAAAA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	3/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237395533	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0036 a0001c0001t0004g0036	1	100	0.0100	13	c.773 others(30): Show c.773+7369_773+7381dupTTTTTTTTTTTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	10/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237594886	G G	GTTTTTTT others(6): Show GTTTTTTTTGTTTT	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0007 a0007	a0007c0033 a0007c0033	a0007c0033t0008 a0007c0033t0008	a0007c0033t0008g0049 a0007c0033t0008g0049	1	100	0.0100	13	c.443 others(30): Show c.4437-604_4437-603insGTTTTTTTTTTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	33/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237594887	T T	TTTTTTTT others(6): Show TTTTTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0087 a0001c0003t0002g0087	1	100	0.0100	13	c.443 others(30): Show c.4437-604_4437-603insGTTTTGTTTTTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	33/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR3_chr15_33305967_33871102	33336554	G G	GAAAGAAG others(6): Show GAAAGAAGGAAAGA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	154	0.0065	13	c.51+ others(30): Show c.51+25460_51+25461insAGAAGGAAAGAAA	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33377868	A A	ACTGCAGC others(6): Show ACTGCAGCCTTGAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00735.hp2 others(99): Show HG00140.hp2 HG00408.hp2 HG00735.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp2 HG01891.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp2 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02486.hp1 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG04184.hp2 HG06807.hp2 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18950.hp1 NA18959.hp1 NA18964.hp1 NA18964.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA19005.hp2 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19056.hp1 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19067.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(41): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0015 a0018 a0020 a0021 a0022 a0023 a0025 a0026 a0027 a0029 a0031 a0032 a0034 a0035 a0036 a0037 a0038 a0039 a0040 a0041 a0042 a0043 a0044 a0045 a0046 a0047 a0048 a0049 a0051 a0053 a0054	a0001c0001 a0001c0002 a0001c0003 others(89): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0010 a0001c0013 a0001c0014 a0001c0015 a0001c0037 a0001c0046 a0001c0047 a0001c0058 a0001c0079 a0001c0082 a0001c0083 a0001c0084 a0001c0095 a0001c0096 a0001c0098 a0001c0099 a0001c0101 a0001c0121 a0002c0044 a0002c0080 a0002c0081 a0002c0088 a0002c0089 a0002c0091 a0002c0120 a0003c0035 a0003c0078 a0003c0107 a0003c0122 a0004c0006 a0004c0016 a0005c0008 a0005c0022 a0005c0028 a0005c0029 a0005c0030 a0005c0032 a0005c0040 a0006c0048 a0006c0061 a0006c0062 a0006c0097 a0007c0021 a0007c0026 a0007c0072 a0007c0073 a0008c0007 a0009c0055 a0010c0017 a0010c0113 a0011c0063 a0011c0086 a0011c0123 a0012c0011 a0013c0057 a0015c0059 a0015c0104 a0018c0102 a0020c0106 a0021c0117 a0022c0116 a0023c0108 a0025c0036 a0026c0118 a0027c0125 a0029c0050 a0031c0052 a0032c0076 a0034c0105 a0035c0094 a0036c0064 a0037c0039 a0038c0020 a0039c0023 a0040c0038 a0041c0041 a0042c0071 a0043c0024 a0044c0074 a0045c0045 a0046c0110 a0047c0056 a0048c0119 a0049c0112 a0051c0060 a0053c0034 a0054c0067	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(94): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0005t0001 a0001c0010t0001 a0001c0013t0005 a0001c0014t0002 a0001c0015t0001 a0001c0037t0003 a0001c0046t0011 a0001c0047t0001 a0001c0058t0002 a0001c0079t0006 a0001c0082t0002 a0001c0083t0001 a0001c0084t0003 a0001c0095t0001 a0001c0096t0001 a0001c0098t0001 a0001c0099t0002 a0001c0101t0001 a0001c0121t0002 a0002c0044t0003 a0002c0080t0002 a0002c0081t0002 a0002c0088t0002 a0002c0089t0008 a0002c0091t0003 a0002c0120t0001 a0003c0035t0004 a0003c0078t0003 a0003c0107t0002 a0003c0122t0008 a0004c0006t0001 a0004c0006t0005 a0004c0016t0002 a0005c0008t0001 a0005c0022t0002 a0005c0028t0003 a0005c0029t0001 a0005c0030t0001 a0005c0032t0003 a0005c0040t0013 a0006c0048t0004 a0006c0061t0001 a0006c0062t0001 a0006c0097t0001 a0007c0021t0001 a0007c0026t0002 a0007c0072t0004 a0007c0073t0001 a0008c0007t0001 a0009c0055t0005 a0010c0017t0003 a0010c0113t0003 a0011c0063t0001 a0011c0086t0002 a0011c0123t0002 a0012c0011t0009 a0013c0057t0003 a0015c0059t0001 a0015c0104t0002 a0018c0102t0001 a0020c0106t0001 a0021c0117t0004 a0022c0116t0006 a0023c0108t0003 a0025c0036t0010 a0026c0118t0002 a0027c0125t0001 a0029c0050t0003 a0031c0052t0001 a0032c0076t0001 a0034c0105t0002 a0035c0094t0003 a0036c0064t0003 a0037c0039t0001 a0038c0020t0001 a0039c0023t0004 a0040c0038t0008 a0041c0041t0002 a0042c0071t0003 a0043c0024t0001 a0044c0074t0002 a0045c0045t0002 a0046c0110t0005 a0047c0056t0001 a0048c0119t0003 a0049c0112t0001 a0051c0060t0001 a0053c0034t0001 a0054c0067t0004	a0001c0001t0001g0044 a0001c0001t0001g0096 a0001c0001t0002g0101 others(99): Show a0001c0001t0001g0044 a0001c0001t0001g0096 a0001c0001t0002g0101 a0001c0001t0005g0008 a0001c0002t0001g0043 a0001c0002t0002g0102 a0001c0003t0001g0032 a0001c0003t0002g0036 a0001c0004t0001g0027 a0001c0005t0001g0127 a0001c0010t0001g0051 a0001c0013t0005g0084 a0001c0014t0002g0015 a0001c0014t0002g0049 a0001c0015t0001g0077 a0001c0015t0001g0118 a0001c0037t0003g0089 a0001c0046t0011g0065 a0001c0047t0001g0135 a0001c0058t0002g0073 a0001c0079t0006g0038 a0001c0082t0002g0025 a0001c0083t0001g0143 a0001c0084t0003g0054 a0001c0095t0001g0041 a0001c0096t0001g0120 a0001c0098t0001g0151 a0001c0099t0002g0139 a0001c0101t0001g0128 a0001c0121t0002g0121 a0002c0044t0003g0105 a0002c0080t0002g0060 a0002c0081t0002g0023 a0002c0088t0002g0072 a0002c0089t0008g0130 a0002c0091t0003g0154 a0002c0120t0001g0090 a0003c0035t0004g0111 a0003c0078t0003g0024 a0003c0107t0002g0080 a0003c0122t0008g0062 a0004c0006t0001g0119 a0004c0006t0005g0098 a0004c0016t0002g0103 a0005c0008t0001g0019 a0005c0008t0001g0124 a0005c0022t0002g0147 a0005c0028t0003g0086 a0005c0029t0001g0075 a0005c0030t0001g0007 a0005c0032t0003g0071 a0005c0040t0013g0145 a0006c0048t0004g0002 a0006c0061t0001g0022 a0006c0062t0001g0107 a0006c0097t0001g0081 a0007c0021t0001g0153 a0007c0026t0002g0108 a0007c0072t0004g0045 a0007c0073t0001g0138 a0008c0007t0001g0100 a0009c0055t0005g0061 a0010c0017t0003g0017 a0010c0113t0003g0020 a0011c0063t0001g0126 a0011c0086t0002g0110 a0011c0123t0002g0055 a0012c0011t0009g0066 a0012c0011t0009g0067 a0013c0057t0003g0082 a0015c0059t0001g0063 a0015c0104t0002g0129 a0018c0102t0001g0078 a0020c0106t0001g0085 a0021c0117t0004g0122 a0022c0116t0006g0042 a0023c0108t0003g0003 a0025c0036t0010g0088 a0026c0118t0002g0123 a0027c0125t0001g0059 a0029c0050t0003g0131 a0031c0052t0001g0137 a0032c0076t0001g0056 a0034c0105t0002g0134 a0035c0094t0003g0070 a0036c0064t0003g0052 a0037c0039t0001g0053 a0038c0020t0001g0074 a0039c0023t0004g0068 a0040c0038t0008g0016 a0041c0041t0002g0114 a0042c0071t0003g0115 a0043c0024t0001g0109 a0044c0074t0002g0148 a0045c0045t0002g0133 a0046c0110t0005g0040 a0047c0056t0001g0093 a0048c0119t0003g0048 a0049c0112t0001g0028 a0051c0060t0001g0125 a0053c0034t0001g0091 a0054c0067t0004g0069	102	154	0.6623	13	c.51+ others(30): Show c.51+66774_51+66775insGCAGCCTTGACCT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33382319	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0003 a0003	a0003c0122 a0003c0122	a0003c0122t0008 a0003c0122t0008	a0003c0122t0008g0062 a0003c0122t0008g0062	1	154	0.0065	13	c.51+ others(30): Show c.51+71233_51+71245dupTTTTTTTTTTTTT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33450087	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA21309.hp1 NA19030.hp1 NA21309.hp1	a0005 a0007 a0005 a0007	a0005c0040 a0007c0072 a0005c0040 a0007c0072	a0005c0040t0013 a0007c0072t0004 a0005c0040t0013 a0007c0072t0004	a0005c0040t0013g0145 a0007c0072t0004g0045 a0005c0040t0013g0145 a0007c0072t0004g0045	2	154	0.0130	13	c.52- others(30): Show c.52-23320_52-23308dupAAAAAAAAAAAAA	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33460940	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02040.hp1 HG02055.hp1 others(9): Show HG01071.hp2 HG02040.hp1 HG02055.hp1 HG02155.hp1 HG02280.hp1 HG02723.hp1 HG02976.hp1 HG03453.hp2 HG03688.hp2 NA18522.hp1 NA18946.hp1 NA20129.hp1	a0001 a0003 a0004 others(6): Show a0001 a0003 a0004 a0005 a0006 a0012 a0014 a0039 a0052	a0001c0002 a0001c0009 a0001c0121 others(9): Show a0001c0002 a0001c0009 a0001c0121 a0003c0012 a0004c0006 a0005c0008 a0006c0097 a0012c0011 a0014c0025 a0014c0027 a0039c0023 a0052c0033	a0001c0002t0001 a0001c0009t0002 a0001c0121t0002 others(9): Show a0001c0002t0001 a0001c0009t0002 a0001c0121t0002 a0003c0012t0003 a0004c0006t0005 a0005c0008t0001 a0006c0097t0001 a0012c0011t0009 a0014c0025t0001 a0014c0027t0001 a0039c0023t0004 a0052c0033t0003	a0001c0002t0001g0018 a0001c0009t0002g0132 a0001c0121t0002g0121 others(9): Show a0001c0002t0001g0018 a0001c0009t0002g0132 a0001c0121t0002g0121 a0003c0012t0003g0113 a0004c0006t0005g0098 a0005c0008t0001g0124 a0006c0097t0001g0081 a0012c0011t0009g0067 a0014c0025t0001g0058 a0014c0027t0001g0046 a0039c0023t0004g0068 a0052c0033t0003g0152	12	154	0.0779	13	c.52- others(30): Show c.52-12469_52-12457dupTTTTTTTTTTTTT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33705101	T T	TCTCTCTC others(6): Show TCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0093 a0002c0093	a0002c0093t0004 a0002c0093t0004	a0002c0093t0004g0050 a0002c0093t0004g0050	1	154	0.0065	13	c.648 others(32): Show c.6484-1818_6484-1817insCTCTCTCTCTCTC	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	42/103			chr15	TogoVar
RYR3_chr15_33305967_33871102	33763892	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0027 a0027	a0027c0125 a0027c0125	a0027c0125t0001 a0027c0125t0001	a0027c0125t0001g0059 a0027c0125t0001g0059	1	154	0.0065	13	c.870 others(32): Show c.8706-4754_8706-4742dupAAAAAAAAAAAAA	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	60/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33789658	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0012 a0012	a0012c0011 a0012c0011	a0012c0011t0009 a0012c0011t0009	a0012c0011t0009g0067 a0012c0011t0009g0067	1	154	0.0065	13	c.983 others(32): Show c.9830+1201_9830+1202insATATATATATATT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	67/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33789659	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01106.hp1 HG00408.hp1 HG01106.hp1	a0001 a0013 a0001 a0013	a0001c0009 a0013c0124 a0001c0009 a0013c0124	a0001c0009t0002 a0013c0124t0003 a0001c0009t0002 a0013c0124t0003	a0001c0009t0002g0099 a0013c0124t0003g0047 a0001c0009t0002g0099 a0013c0124t0003g0047	2	154	0.0130	13	c.983 others(32): Show c.9830+1201_9830+1202insATATATATATATA	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	67/103			chr15	TogoVar
S100A14_chr1_153609255_153621325	153619743	A A	AAGGGTGC others(6): Show AAGGGTGCCTCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	394	0.0025	13	c.-35 others(24): Show c.-3540_-3528dupCCTGAGGCACCCT	S100A14	ENSG00000189334.9	transcript	ENST00000344616.4	protein_coding		3419		chr1	TogoVar
S100A2_chr1_153556108_153570844	153564854	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00438.hp2 others(117): Show HG00099.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01192.hp2 HG01256.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02559.hp1 HG02602.hp1 HG02630.hp1 HG03209.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18612.hp2 NA18941.hp1 NA18944.hp1 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18967.hp1 NA18970.hp1 NA18973.hp2 NA18978.hp1 NA18978.hp2 NA18986.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19011.hp1 NA19011.hp2 NA19060.hp1 NA19064.hp2 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19074.hp2 NA19076.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0003c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(20): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0031 a0001c0001t0001g0037 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0002g0077 a0001c0001t0003g0014 a0001c0001t0003g0024 a0001c0001t0003g0026 a0001c0001t0003g0044 a0003c0003t0001g0036 a0003c0003t0001g0064	120	370	0.3243	13	c.-11 others(28): Show c.-11+639_-11+651dupTTTTTTTTTTTTT	S100A2	ENSG00000196754.13	transcript	ENST00000368708.9	protein_coding	1/2			chr1	TogoVar
S100A7_chr1_153452744_153465651	153461437	C C	CCCGCCCC others(6): Show CCCGCCCCCCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	420	0.0024	13	c.-84 others(22): Show c.-848_-847insCGGGGGGGGGCGG	S100A7	ENSG00000143556.9	transcript	ENST00000368723.4	protein_coding		787		chr1	TogoVar
S100B_chr21_46593604_46610082	46603392	A A	AGGGGGGG others(6): Show AGGGGGGGGCGGGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01123.hp2 HG01192.hp2 HG00099.hp1 HG01123.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0108 a0001c0001t0001g0173 a0001c0002t0001g0200 a0001c0001t0001g0108 a0001c0001t0001g0173 a0001c0002t0001g0200	3	452	0.0066	13	c.-1- others(26): Show c.-1-977_-1-976insCCCCGCCCCCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100B_chr21_46593604_46610082	46603392	A A	AGGGGGGG others(6): Show AGGGGGGGGGCGGG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	452	0.0022	13	c.-1- others(26): Show c.-1-977_-1-976insCCCGCCCCCCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100PBP_chr1_32812653_32863875	32854109	A A	ATCTTTTA others(6): Show ATCTTTTACTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01070.hp2 HG00639.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0104 a0001c0001t0001g0105	2	340	0.0059	13	c.111 others(30): Show c.1112+943_1112+944insTCTTTTACTTTTT	S100PBP	ENSG00000116497.18	transcript	ENST00000373475.10	protein_coding	6/6			chr1	TogoVar
S1PR2_chr19_10216433_10236331	10234492	T T	TGATCCCC others(6): Show TGATCCCCTGACCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	400	0.0025	13	c.-33 others(24): Show c.-3332_-3331insTGGTCAGGGGATC	S1PR2	ENSG00000267534.4	transcript	ENST00000646641.1	protein_coding		3162		chr19	TogoVar
SAA4_chr11_18226355_18241802	18232165	G G	GAGCCCCT others(6): Show GAGCCCCTGCACCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(251): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01516.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02886.hp1 HG02895.hp2 HG02922.hp1 HG03017.hp1 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 others(2): Show a0001 a0003 a0005 a0007 a0008	a0001c0001 a0003c0003 a0005c0005 others(2): Show a0001c0001 a0003c0003 a0005c0005 a0007c0007 a0008c0008	a0001c0001t0001 a0003c0003t0001 a0005c0005t0001 others(2): Show a0001c0001t0001 a0003c0003t0001 a0005c0005t0001 a0007c0007t0001 a0008c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(37): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0003c0003t0001g0017 a0005c0005t0001g0059 a0007c0007t0001g0048 a0008c0008t0001g0065	254	418	0.6077	13	c.230 others(28): Show c.230+217_230+229dupGGGTGCAGGGGCT	SAA4	ENSG00000148965.10	transcript	ENST00000278222.7	protein_coding	3/3			chr11	TogoVar
SAAL1_chr11_18075292_18111082	18076631	A A	AAAAAGAA others(6): Show AAAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02486.hp1 HG02615.hp1 HG02109.hp2 HG02486.hp1 HG02615.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0018 a0004c0004t0001g0067 a0004c0004t0001g0018 a0004c0004t0001g0067	3	284	0.0106	13	c.37 others(24): Show c.3767_*3768insCTTTCTTTCTTTT	SAAL1	ENSG00000166788.10	transcript	ENST00000524803.6	protein_coding		3660		chr11	TogoVar
SAC3D1_chr11_65036210_65049828	65039029	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG03579.hp2 HG02145.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0013 a0001c0002t0001g0022 a0001c0002t0001g0013 a0001c0002t0001g0022	2	352	0.0057	13	c.-22 others(24): Show c.-2264_-2263insTTTTTTTTTTTTT	SAC3D1	ENSG00000168061.17	transcript	ENST00000652489.1	protein_coding		2180		chr11	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATTTTT others(6): Show ATATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 NA19091.hp1 HG02717.hp2 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0042 a0001c0002t0002g0004 a0001c0002t0002g0042	2	354	0.0057	13	c.-28 others(24): Show c.-2803_-2802insTATTTTTTTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACS_chr13_23323830_23438702	23399019	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG00544.hp2 others(56): Show HG00408.hp2 HG00544.hp1 HG00544.hp2 HG01070.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01884.hp2 HG02129.hp2 HG02165.hp2 HG02257.hp1 HG02280.hp1 HG02486.hp1 HG02523.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp2 HG02738.hp2 HG02970.hp2 HG03491.hp2 HG03704.hp2 HG03942.hp1 HG04115.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18949.hp2 NA18952.hp2 NA18953.hp1 NA18957.hp1 NA18971.hp2 NA18974.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18989.hp2 NA19001.hp2 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19057.hp1 NA19068.hp1 NA19068.hp2 NA19085.hp1 NA19089.hp2 NA20129.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0035 a0039	a0001c0002 a0001c0003 a0001c0004 others(7): Show a0001c0002 a0001c0003 a0001c0004 a0001c0028 a0001c0056 a0001c0068 a0002c0001 a0005c0010 a0035c0025 a0039c0055	a0001c0002t0002 a0001c0002t0012 a0001c0002t0025 others(10): Show a0001c0002t0002 a0001c0002t0012 a0001c0002t0025 a0001c0003t0004 a0001c0003t0014 a0001c0004t0002 a0001c0028t0002 a0001c0056t0002 a0001c0068t0002 a0002c0001t0004 a0005c0010t0005 a0035c0025t0002 a0039c0055t0002	a0001c0002t0002g0070 a0001c0002t0002g0082 a0001c0002t0002g0094 others(55): Show a0001c0002t0002g0070 a0001c0002t0002g0082 a0001c0002t0002g0094 a0001c0002t0002g0160 a0001c0002t0002g0176 a0001c0002t0002g0230 a0001c0002t0002g0232 a0001c0002t0002g0242 a0001c0002t0002g0256 a0001c0002t0002g0264 a0001c0002t0002g0295 a0001c0002t0002g0305 a0001c0002t0002g0308 a0001c0002t0002g0359 a0001c0002t0012g0005 a0001c0002t0025g0013 a0001c0003t0004g0106 a0001c0003t0004g0182 a0001c0003t0004g0367 a0001c0003t0004g0369 a0001c0003t0004g0370 a0001c0003t0014g0366 a0001c0003t0014g0372 a0001c0004t0002g0001 a0001c0004t0002g0095 a0001c0004t0002g0124 a0001c0004t0002g0126 a0001c0004t0002g0132 a0001c0004t0002g0146 a0001c0004t0002g0161 a0001c0004t0002g0162 a0001c0004t0002g0192 a0001c0004t0002g0193 a0001c0004t0002g0194 a0001c0004t0002g0198 a0001c0004t0002g0221 a0001c0004t0002g0226 a0001c0004t0002g0246 a0001c0004t0002g0275 a0001c0004t0002g0278 a0001c0004t0002g0333 a0001c0004t0002g0348 a0001c0004t0002g0355 a0001c0028t0002g0310 a0001c0056t0002g0356 a0001c0068t0002g0136 a0002c0001t0004g0014 a0002c0001t0004g0050 a0002c0001t0004g0072 a0002c0001t0004g0097 a0002c0001t0004g0144 a0002c0001t0004g0168 a0002c0001t0004g0175 a0002c0001t0004g0220 a0002c0001t0004g0326 a0005c0010t0005g0064 a0035c0025t0002g0349 a0039c0055t0002g0244	59	378	0.1561	13	c.20+ others(30): Show c.20+12188_20+12200dupTTTTTTTTTTTTT	SACS	ENSG00000151835.17	transcript	ENST00000382292.9	protein_coding	2/9			chr13	TogoVar
SACS_chr13_23323830_23438702	23408120	A A	ATTTTGAG others(6): Show ATTTTGAGCAAGTC	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0333 a0001c0004t0002g0333	1	378	0.0027	13	c.20+ others(28): Show c.20+3087_20+3099dupGACTTGCTCAAAA	SACS	ENSG00000151835.17	transcript	ENST00000382292.9	protein_coding	2/9			chr13	TogoVar
SACS_chr13_23323830_23438702	23409040	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02109.hp1 HG02135.hp1 others(17): Show HG01175.hp1 HG02109.hp1 HG02135.hp1 HG02145.hp2 HG02258.hp1 HG02559.hp1 HG02559.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG03041.hp2 HG03195.hp1 HG03516.hp1 HG03942.hp2 HG04199.hp2 NA18943.hp2 NA18988.hp2 NA19030.hp1 NA19064.hp1 NA20129.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0005 a0006 a0011 a0019 a0023 a0030 a0032 a0041	a0001c0002 a0001c0003 a0001c0008 others(12): Show a0001c0002 a0001c0003 a0001c0008 a0001c0045 a0002c0001 a0003c0005 a0005c0030 a0005c0032 a0006c0009 a0011c0019 a0019c0065 a0023c0059 a0030c0051 a0032c0035 a0041c0046	a0001c0002t0003 a0001c0003t0001 a0001c0008t0001 others(13): Show a0001c0002t0003 a0001c0003t0001 a0001c0008t0001 a0001c0045t0001 a0002c0001t0001 a0002c0001t0013 a0003c0005t0001 a0005c0030t0005 a0005c0032t0005 a0006c0009t0001 a0011c0019t0001 a0019c0065t0001 a0023c0059t0001 a0030c0051t0001 a0032c0035t0001 a0041c0046t0001	a0001c0002t0003g0069 a0001c0003t0001g0020 a0001c0008t0001g0016 others(17): Show a0001c0002t0003g0069 a0001c0003t0001g0020 a0001c0008t0001g0016 a0001c0008t0001g0304 a0001c0045t0001g0302 a0002c0001t0001g0330 a0002c0001t0013g0307 a0003c0005t0001g0296 a0005c0030t0005g0116 a0005c0032t0005g0088 a0006c0009t0001g0057 a0006c0009t0001g0089 a0006c0009t0001g0090 a0006c0009t0001g0092 a0011c0019t0001g0055 a0019c0065t0001g0169 a0023c0059t0001g0054 a0030c0051t0001g0328 a0032c0035t0001g0214 a0041c0046t0001g0306	20	378	0.0529	13	c.20+ others(28): Show c.20+2167_20+2179dupAAAAAAAAAAAAA	SACS	ENSG00000151835.17	transcript	ENST00000382292.9	protein_coding	2/9			chr13	TogoVar
SAE1_chr19_47125835_47215636	47164639	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	380	0.0026	13	c.628 others(30): Show c.628-5164_628-5152dupTTTTTTTTTTTTT	SAE1	ENSG00000142230.13	transcript	ENST00000270225.12	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
SAE1_chr19_47125835_47215636	47201360	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	380	0.0026	13	c.879 others(30): Show c.879-2294_879-2282dupTTTTTTTTTTTTT	SAE1	ENSG00000142230.13	transcript	ENST00000270225.12	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
SAMD10_chr20_63969116_63984642	63976764	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0015 a0001c0002t0004g0015	2	342	0.0059	13	c.445 others(28): Show c.445+194_445+206dupTTTTTTTTTTTTT	SAMD10	ENSG00000130590.14	transcript	ENST00000369886.8	protein_coding	3/4			chr20	TogoVar
SAMD15_chr14_77372379_77397163	77372952	A A	ATATATAT others(6): Show ATATATATATTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	314	0.0032	13	c.-44 others(24): Show c.-4467_-4466insTATATATATTTTT	SAMD15	ENSG00000100583.5	transcript	ENST00000216471.5	protein_coding		4426		chr14	TogoVar
SAMD3_chr6_130139315_130227951	130153669	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0234 a0001c0001t0002g0234	1	338	0.0030	13	c.102 others(32): Show c.1023+1155_1023+1156insTATATATATATAT	SAMD3	ENSG00000164483.17	transcript	ENST00000439090.7	protein_coding	9/11			chr6	TogoVar

Search by Variant

Search

Search Results