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
SPG11_chr15_44557696_44668662	44611091	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0011 a0011	a0011c0010 a0011c0010	a0011c0010t0001 a0011c0010t0001	a0011c0010t0001g0181 a0011c0010t0001g0181	1	71	0.0141	21	c.314 others(38): Show c.3146-127_3146-107dupTTTTTTTTTTTTTTTTTTTTT		SPG11	ENSG00000104133.16	transcript	ENST00000261866.12	protein_coding	17/39						chr15	TogoVar
SPG11_chr15_44557696_44668662	44633324	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	27	0.0370	21	c.173 others(38): Show c.1735+160_1735+180dupTTTTTTTTTTTTTTTTTTTTT		SPG11	ENSG00000104133.16	transcript	ENST00000261866.12	protein_coding	8/39						chr15	TogoVar
SPG7_chr16_89503403_89562766	89538955	T T	TGAACACT others(14): Show TGAACACTGAGGATACTGTGGG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02109.hp1 HG02258.hp2 others(4): Show HG01081.hp1 HG02109.hp1 HG02258.hp2 HG02572.hp1 HG02809.hp1 HG03139.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0005t0009 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0005t0009 a0001c0005t0010	a0001c0001t0001g0231 a0001c0001t0002g0222 a0001c0001t0002g0230 others(4): Show a0001c0001t0001g0231 a0001c0001t0002g0222 a0001c0001t0002g0230 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0005t0009g0340 a0001c0005t0010g0238	7	356	0.0197	21	c.132 others(40): Show c.1325-5692_1325-5672dupGAACACTGAGGATACTGTGGG		SPG7	ENSG00000197912.16	transcript	ENST00000645818.2	protein_coding	9/16					INFO_REALIGN_3_PRIME	chr16	TogoVar
SPI1_chr11_47349860_47383547	47380561	T T	TTTGTTGT others(14): Show TTTGTTGTTGTTGTTGTTGTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00423.hp1 others(41): Show HG00280.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00609.hp2 HG00642.hp1 HG01070.hp1 HG01081.hp2 HG01123.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01496.hp1 HG01496.hp2 HG01943.hp2 HG02004.hp2 HG02145.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp2 HG02572.hp1 HG02630.hp1 HG02647.hp1 HG02738.hp2 HG02886.hp1 HG02970.hp1 HG03041.hp1 HG03209.hp2 HG03453.hp2 HG03654.hp2 NA18959.hp2 NA18962.hp1 NA18977.hp2 NA19001.hp1 NA19007.hp2 NA19055.hp1 NA19060.hp2 NA19088.hp2 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(29): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0036 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0094 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0116 a0001c0001t0001g0123 a0001c0001t0001g0154 a0001c0001t0001g0226 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0129	44	49	0.8980	21	c.-22 others(32): Show c.-2229_-2209dupCAACAACAACAACAACAACAA		SPI1	ENSG00000066336.13	transcript	ENST00000378538.8	protein_coding					2015		chr11	TogoVar
SPICE1_chr3_113437718_113520156	113480931	A A	AGAAAGAA others(14): Show AGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA19087.hp1 HG02055.hp1 NA19087.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0253 a0001c0002t0003g0300 a0001c0002t0003g0253 a0001c0002t0003g0300	2	281	0.0071	21	c.611 others(38): Show c.611+8013_611+8014insCTTTCTTTCTTTCTTTCTTTC		SPICE1	ENSG00000163611.11	transcript	ENST00000295872.8	protein_coding	7/17						chr3	TogoVar
SPIDR_chr8_47255938_47741306	47565992	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp2 NA19064.hp2 HG01346.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0111 a0001c0001t0001g0104 a0001c0001t0001g0111	2	75	0.0267	21	c.109 others(42): Show c.1098-29818_1098-29817insATATATATATATATATATATT		SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47565992	A A	ATATATAT others(14): Show ATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG04204.hp1 HG01255.hp2 HG04204.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0005c0006t0002 a0001c0001t0001 a0005c0006t0002	a0001c0001t0001g0083 a0005c0006t0002g0015 a0001c0001t0001g0083 a0005c0006t0002g0015	2	75	0.0267	21	c.109 others(42): Show c.1098-29818_1098-29817insATATATATATATATATATTTT		SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47565992	A A	ATATATAT others(14): Show ATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01106.hp1 HG00733.hp2 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0086 a0001c0001t0001g0087	2	75	0.0267	21	c.109 others(42): Show c.1098-29818_1098-29817insATATATATATATATATTTTTT		SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47565992	A A	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	74	0.0135	21	c.109 others(42): Show c.1098-29818_1098-29817insATATATATATATTTTTTTTTT		SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47565993	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	207	0.0048	21	c.109 others(42): Show c.1098-29818_1098-29817insATATATATATATATATATATA		SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19						chr8	TogoVar
SPIDR_chr8_47255938_47741306	47647616	A A	AGAGAGAG others(14): Show AGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	26	0.0385	21	c.154 others(42): Show c.1545-26185_1545-26184insGAGAGAGAGAGAGAGAGAGAG		SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	10/19						chr8	TogoVar
SPINK13_chr5_148263794_148291255	148267272	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG02572.hp1 others(1): Show HG01069.hp2 HG01071.hp1 HG02572.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0031 a0001c0001t0001g0013 a0001c0001t0001g0031	4	185	0.0216	21	c.-16 others(32): Show c.-1650_-1649insTTTTTTTTTTTTTTTTTTTTT		SPINK13	ENSG00000214510.10	transcript	ENST00000398450.5	protein_coding					1521		chr5	TogoVar
SPINK8_chr3_48301842_48338661	48315720	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	129	0.0078	21	c.239 others(38): Show c.239+3756_239+3776dupTTTTTTTTTTTTTTTTTTTTT		SPINK8	ENSG00000229453.3	transcript	ENST00000434006.3	protein_coding	6/7						chr3	TogoVar
SPINT2_chr19_38259573_38297615	38268771	G G	GTGTGTGT others(14): Show GTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	398	0.0025	21	c.106 others(38): Show c.106+3792_106+3793insGTTGTGTGTGTGTGTGTGTGT		SPINT2	ENSG00000167642.13	transcript	ENST00000301244.12	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
SPINT2_chr19_38259573_38297615	38289484	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	130	0.0077	21	c.391 others(36): Show c.391+302_391+322dupAAAAAAAAAAAAAAAAAAAAA		SPINT2	ENSG00000167642.13	transcript	ENST00000301244.12	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
SPINT4_chr20_45717347_45730830	45724995	A A	ATATATAT others(14): Show ATATATATATATATATACACAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0077 a0002c0002t0001g0077	1	312	0.0032	21	c.294 others(36): Show c.294-634_294-633insTATATATATATATATACACAT		SPINT4	ENSG00000149651.4	transcript	ENST00000279058.4	protein_coding	2/2						chr20	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG04184.hp2 NA18967.hp1 HG04184.hp2 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0134 a0001c0001t0001g0058 a0001c0001t0001g0134	2	139	0.0144	21	c.372 others(40): Show c.372+19716_372+19717insATATTTTTTTTTTTTTTTTTT		SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16						chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	138	0.0072	21	c.372 others(40): Show c.372+19716_372+19717insATATATTTTTTTTTTTTTTTT		SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16						chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01952.hp2 HG03516.hp1 others(1): Show HG01168.hp2 HG01952.hp2 HG03516.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0032 a0001c0001t0003 a0001c0001t0010 a0001c0001t0032	a0001c0001t0003g0276 a0001c0001t0003g0315 a0001c0001t0010g0310 others(1): Show a0001c0001t0003g0276 a0001c0001t0003g0315 a0001c0001t0010g0310 a0001c0001t0032g0316	4	141	0.0284	21	c.372 others(40): Show c.372+19716_372+19717insATATATATTTTTTTTTTTTTT		SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16						chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 NA18962.hp2 NA19000.hp2 HG02895.hp1 NA18962.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0271 a0001c0001t0003g0286 a0001c0001t0003g0314 a0001c0001t0003g0271 a0001c0001t0003g0286 a0001c0001t0003g0314	3	140	0.0214	21	c.372 others(40): Show c.372+19716_372+19717insATATATATATTTTTTTTTTTT		SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16						chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615542	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG04204.hp1 HG02486.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0138 a0001c0001t0003g0280 a0001c0001t0001g0138 a0001c0001t0003g0280	2	206	0.0097	21	c.372 others(40): Show c.372+19519_372+19520insTTTTTTTTTTTTTTTTTTTTT		SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16						chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12660730	A A	AGTTGCAG others(14): Show AGTTGCAGTATATATCACTGTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0107 a0001c0001t0002g0107	1	326	0.0031	21	c.-28 others(32): Show c.-2865_-2864insAACAGTGATATATACTGCAAC		SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding					2624		chr18	TogoVar
SPIRE2_chr16_89823475_89876319	89869045	A A	ACATATAT others(14): Show ACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02083.hp1 HG02056.hp1 HG02083.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0255 a0002c0002t0002g0271 a0002c0002t0002g0255 a0002c0002t0002g0271	2	323	0.0062	21	c.180 others(38): Show c.1807-522_1807-521insCATATATATATATATATATAT		SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14						chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAA others(14): Show AAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03130.hp1 HG03453.hp1 others(1): Show HG02615.hp2 HG03130.hp1 HG03453.hp1 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0119 a0001c0001t0001g0001 a0001c0001t0001g0119	4	33	0.1212	21	c.180 others(38): Show c.1807-513_1807-512insAAAAAAAAATATATATATATA		SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAA others(14): Show AAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA19065.hp2 NA18983.hp2 NA19065.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0109 a0001c0003t0005g0112 a0001c0003t0005g0109 a0001c0003t0005g0112	2	31	0.0645	21	c.180 others(38): Show c.1807-513_1807-512insAAAAAAATATATATATATATA		SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAT others(14): Show AAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02970.hp1 NA18998.hp2 HG02258.hp2 HG02970.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0180 a0001c0001t0001g0189 a0001c0003t0001g0111 a0001c0001t0001g0180 a0001c0001t0001g0189 a0001c0003t0001g0111	3	32	0.0938	21	c.180 others(38): Show c.1807-513_1807-512insAAAAATATATATATATATATA		SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAATAT others(14): Show AAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	30	0.0333	21	c.180 others(38): Show c.1807-513_1807-512insAAATATATATATATATATATA		SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAATATAT others(14): Show AAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0005 a0001c0012t0005	a0001c0012t0005g0051 a0001c0012t0005g0051	1	30	0.0333	21	c.180 others(38): Show c.1807-513_1807-512insATATATATATATATATATATA		SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0016 a0001c0006t0001g0016	1	30	0.0333	21	c.180 others(38): Show c.1807-514_1807-513insTATATATATATATATATATAT		SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14						chr16	TogoVar
SPNS2_chr17_4493881_4544035	4494974	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02647.hp1 HG02896.hp1 others(3): Show HG01243.hp1 HG02647.hp1 HG02896.hp1 HG02897.hp1 HG03579.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0003t0004	a0001c0001t0001g0230 a0001c0001t0003g0231 a0001c0001t0006g0015 others(2): Show a0001c0001t0001g0230 a0001c0001t0003g0231 a0001c0001t0006g0015 a0001c0001t0011g0361 a0001c0003t0004g0232	6	47	0.1277	21	c.-40 others(32): Show c.-4074_-4073insAAAAAAAAAAAAAAAAAAAAA		SPNS2	ENSG00000183018.9	transcript	ENST00000329078.8	protein_coding					3906		chr17	TogoVar
SPNS3_chr17_4428940_4493204	4458621	C C	CTTTCTTT others(14): Show CTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02155.hp2 HG02723.hp2 others(2): Show HG00639.hp2 HG02155.hp2 HG02723.hp2 HG03834.hp1 NA19064.hp2	a0001 a0003 a0001 a0003	a0001c0045 a0003c0005 a0003c0008 others(1): Show a0001c0045 a0003c0005 a0003c0008 a0003c0051	a0001c0045t0003 a0003c0005t0001 a0003c0008t0003 others(1): Show a0001c0045t0003 a0003c0005t0001 a0003c0008t0003 a0003c0051t0001	a0001c0045t0003g0150 a0003c0005t0001g0140 a0003c0005t0001g0235 others(2): Show a0001c0045t0003g0150 a0003c0005t0001g0140 a0003c0005t0001g0235 a0003c0008t0003g0141 a0003c0051t0001g0013	5	312	0.0160	21	c.111 others(40): Show c.1113+5419_1113+5439dupTCTTTCTTTCTTTCTTTCTTT		SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11					INFO_REALIGN_3_PRIME	chr17	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG03453.hp1 HG02145.hp1 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0064 a0002c0002t0001g0226 a0001c0001t0001g0064 a0002c0002t0001g0226	2	36	0.0556	21	c.-12 others(32): Show c.-1200_-1199insAAAAAAAAATATATATATATA		SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding					1099		chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(14): Show ATATATATATATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03942.hp2 NA19058.hp2 HG03453.hp2 HG03942.hp2 NA19058.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0229 a0002c0002t0002g0212 a0002c0002t0002g0235 a0002c0002t0001g0229 a0002c0002t0002g0212 a0002c0002t0002g0235	3	37	0.0811	21	c.-12 others(32): Show c.-1200_-1199insAAAAAAAAAAATATATATATA		SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding					1099		chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(14): Show ATATATATATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02074.hp2 others(3): Show HG01884.hp2 HG01891.hp1 HG02074.hp2 HG02886.hp2 NA18962.hp1 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0224 a0002c0002t0001g0230 a0002c0002t0001g0231 others(3): Show a0002c0002t0001g0224 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0002g0190 a0002c0002t0002g0193 a0002c0002t0002g0214	6	40	0.1500	21	c.-12 others(32): Show c.-1200_-1199insAAAAAAAAAAAAATATATATA		SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding					1099		chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(14): Show ATATATATTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0208 a0002c0002t0001g0208	1	35	0.0286	21	c.-12 others(32): Show c.-1200_-1199insAAAAAAAAAAAAAAATATATA		SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding					1099		chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATTTTT others(14): Show ATATTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0177 a0002c0002t0002g0177	1	35	0.0286	21	c.-12 others(32): Show c.-1200_-1199insAAAAAAAAAAAAAAAAAAATA		SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding					1099		chr1	TogoVar
SPOCK3_chr4_166728384_167239494	166728827	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp2 NA19070.hp1 NA18947.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0053 a0001c0001t0001g0054	2	74	0.0270	21	c.60 others(32): Show c.6093_*6094insTTTTTTTTTTTTTTTTTTTTT		SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding					4556		chr4	TogoVar
SPOCK3_chr4_166728384_167239494	166800183	G G	GAAAAAAA others(14): Show GAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02040.hp2 HG03225.hp1 HG01952.hp1 HG02040.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0092 a0001c0001t0001g0130 a0001c0001t0005g0103 a0001c0001t0001g0092 a0001c0001t0001g0130 a0001c0001t0005g0103	3	64	0.0469	21	c.590 others(38): Show c.590-7915_590-7895dupTTTTTTTTTTTTTTTTTTTTT		SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	6/10						chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167065037	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02273.hp2 HG00642.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0002g0049 a0001c0001t0002g0051	2	8	0.2500	21	c.190 others(38): Show c.190-2521_190-2501dupTTTTTTTTTTTTTTTTTTTTT		SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10						chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167205530	T T	TTATATAA others(14): Show TTATATAATATATATTATATAA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	133	0.0075	21	c.189 others(40): Show c.189+28434_189+28454dupTTATATAATATATATTATATA		SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10						chr4	TogoVar
SPON1_chr11_13957723_14273133	14130809	C C	CTCACCTA others(14): Show CTCACCTAATTATATATTATTT	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	222	0.0045	21	c.677 others(38): Show c.677-4607_677-4587dupCCTAATTATATATTATTTTCA		SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr11	TogoVar
SPON2_chr4_1161932_1177583	1176839	G G	GTTCATTC others(14): Show GTTCATTCACACACTTCATTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00735.hp1 HG01074.hp2 others(39): Show HG00642.hp2 HG00735.hp1 HG01074.hp2 HG01099.hp2 HG01243.hp1 HG01243.hp2 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp2 HG01934.hp2 HG01981.hp2 HG02055.hp1 HG02055.hp2 HG02258.hp2 HG02451.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp2 HG02735.hp1 HG02886.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03669.hp1 HG03688.hp1 HG03834.hp1 HG03927.hp2 HG04199.hp2 HG06807.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1	a0002 a0003 a0005 others(1): Show a0002 a0003 a0005 a0010	a0002c0002 a0002c0003 a0003c0004 others(2): Show a0002c0002 a0002c0003 a0003c0004 a0005c0005 a0010c0022	a0002c0002t0001 a0002c0003t0001 a0003c0004t0001 others(2): Show a0002c0002t0001 a0002c0003t0001 a0003c0004t0001 a0005c0005t0001 a0010c0022t0001	a0002c0002t0001g0003 a0002c0003t0001g0015 a0003c0004t0001g0004 others(9): Show a0002c0002t0001g0003 a0002c0003t0001g0015 a0003c0004t0001g0004 a0003c0004t0001g0024 a0003c0004t0001g0030 a0003c0004t0001g0031 a0003c0004t0001g0032 a0003c0004t0001g0033 a0003c0004t0001g0034 a0005c0005t0001g0009 a0005c0005t0001g0066 a0010c0022t0001g0029	42	425	0.0988	21	c.-43 others(32): Show c.-4320_-4300dupTGAATGAAGTGTGTGAATGAA		SPON2	ENSG00000159674.12	transcript	ENST00000290902.10	protein_coding					4257		chr4	TogoVar
SPPL3_chr12_120757510_120909358	120830580	G G	GAGAGAGA others(14): Show GAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0223 a0001c0001t0002g0223	1	32	0.0313	21	c.24- others(38): Show c.24-19695_24-19694insTCTCTCTCTCTCTCTCTCTCT		SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10						chr12	TogoVar
SPPL3_chr12_120757510_120909358	120830580	G G	GGGAGAGA others(14): Show GGGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0296 a0001c0001t0003g0296	1	32	0.0313	21	c.24- others(38): Show c.24-19695_24-19694insTCTCTCTCTCTCTCTCTCTCC		SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10						chr12	TogoVar
SPPL3_chr12_120757510_120909358	120871130	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02698.hp1 NA18988.hp2 NA19057.hp2 others(3): Show HG02698.hp1 NA18988.hp2 NA19057.hp2 NA19077.hp2 NA19079.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0125 a0001c0001t0004g0152 a0001c0001t0004g0161 others(3): Show a0001c0001t0004g0125 a0001c0001t0004g0152 a0001c0001t0004g0161 a0001c0001t0004g0172 a0001c0001t0004g0177 a0001c0001t0004g0182	6	98	0.0612	21	c.23+ others(38): Show c.23+32714_23+32715insTTTTTTTTTTTTTTTTTTTTT		SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10						chr12	TogoVar
SPPL3_chr12_120757510_120909358	120871144	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0160 a0001c0001t0004g0160	1	266	0.0038	21	c.23+ others(38): Show c.23+32700_23+32701insCTTTTTTTTTTTTTTTTTTTT		SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10						chr12	TogoVar
SPRR2E_chr1_153088135_153099526	153091978	A A	ATTTTTAT others(14): Show ATTTTTATTAAATACTATTCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	454	0.0022	21	c.15 others(32): Show c.1554_*1555insATGAATAGTATTTAATAAAAA		SPRR2E	ENSG00000203785.9	transcript	ENST00000368750.8	protein_coding					1156		chr1	TogoVar
SPRR5_chr1_152942206_152954255	152948656	A A	ACAGTGCT others(14): Show ACAGTGCTGCCCCCGACCCCAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18971.hp1 NA18973.hp2 NA18990.hp1 others(3): Show NA18971.hp1 NA18973.hp2 NA18990.hp1 NA19003.hp2 NA19005.hp2 NA19078.hp2	a0007 a0012 a0007 a0012	a0007c0006 a0012c0012 a0007c0006 a0012c0012	a0007c0006t0006 a0012c0012t0006 a0007c0006t0006 a0012c0012t0006	a0007c0006t0006g0010 a0007c0006t0006g0011 a0012c0012t0006g0011 a0007c0006t0006g0010 a0007c0006t0006g0011 a0012c0012t0006g0011	6	434	0.0138	21	c.115 others(28): Show c.115_116insGACCCCAGCAGTGCTGCCCCC	p.Pro others(32): Show p.Pro38_Pro39insArgProGlnGlnCysCysPro	SPRR5	ENSG00000283227.2	transcript	ENST00000636302.2	protein_coding	2/2	177/762	116/327	39/108		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPRY3_chrX_155607586_155787459	155616130	C C	CTCTCTCT others(14): Show CTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02683.hp2 HG02723.hp1 others(7): Show HG01106.hp1 HG02683.hp2 HG02723.hp1 NA18970.hp1 NA18989.hp1 NA18995.hp1 NA19056.hp1 NA19064.hp2 NA19075.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0017 others(7): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0017 a0001c0001t0027 a0001c0001t0097 a0001c0001t0106 a0001c0001t0108 a0001c0001t0111 a0001c0001t0126 a0001c0001t0146	a0001c0001t0001g0223 a0001c0001t0005g0151 a0001c0001t0017g0197 others(7): Show a0001c0001t0001g0223 a0001c0001t0005g0151 a0001c0001t0017g0197 a0001c0001t0027g0134 a0001c0001t0097g0214 a0001c0001t0106g0226 a0001c0001t0108g0141 a0001c0001t0111g0158 a0001c0001t0126g0138 a0001c0001t0146g0230	10	125	0.0800	21	c.-28 others(40): Show c.-282+3483_-282+3484insTCTCTCTCTCTCTCTCTCTCT		SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2						chrX	TogoVar
SPRY3_chrX_155607586_155787459	155680191	T T	TGTGTGTG others(14): Show TGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0038 a0001c0001t0031g0038	1	213	0.0047	21	c.-28 others(42): Show c.-282+67544_-282+67545insGTGTGTGTGTGTGTGTGTGTG		SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2						chrX	TogoVar

Search by Variant

Search

Search Results