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
STARD8_chrX_68642666_68730836	68661966	CTCTCTCT others(29): Show CTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02895.hp1 HG02897.hp2 HG00735.hp1 HG02895.hp1 HG02897.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0001 a0003c0002t0005 a0001c0001t0001 a0003c0002t0005	a0001c0001t0001g0008 a0003c0002t0005g0024 a0001c0001t0001g0008 a0003c0002t0005g0024	3	182	0.0165	-36	c.46- others(51): Show c.46-3529_46-3494delCTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCT		STARD8	ENSG00000130052.14	transcript	ENST00000374599.8	protein_coding	1/14					INFO_REALIGN_3_PRIME	chrX	TogoVar
STAT6_chr12_57090408_57116362	57100676	GAAAGAAA others(29): Show GAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02293.hp1 NA19058.hp1 HG02293.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0005 a0001c0001t0005g0215 a0001c0001t0005g0005 a0001c0001t0005g0215	2	364	0.0055	-36	c.151 others(53): Show c.1513-622_1513-587delTTCTTTCTTTCTCTTTCTTTCTTTCTTT CTTTCTTT		STAT6	ENSG00000166888.12	transcript	ENST00000300134.8	protein_coding	13/21						chr12	TogoVar
STAT6_chr12_57090408_57116362	57100680	GAAAGAAA others(29): Show GAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01192.hp1 HG01891.hp2 others(2): Show HG01070.hp2 HG01192.hp1 HG01891.hp2 HG02083.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 a0001c0001t0013	a0001c0001t0002g0001 a0001c0001t0006g0003 a0001c0001t0012g0034 others(1): Show a0001c0001t0002g0001 a0001c0001t0006g0003 a0001c0001t0012g0034 a0001c0001t0013g0013	5	352	0.0142	-36	c.151 others(53): Show c.1513-626_1513-591delTTCTTTCTTTCTTTCTCTTTCTTTCTTT CTTTCTTT		STAT6	ENSG00000166888.12	transcript	ENST00000300134.8	protein_coding	13/21						chr12	TogoVar
STAT6_chr12_57090408_57116362	57100684	GAAAGAAA others(29): Show GAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01981.hp1 HG01517.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0032 a0001c0001t0002 a0001c0001t0032	a0001c0001t0002g0083 a0001c0001t0032g0203 a0001c0001t0002g0083 a0001c0001t0032g0203	2	336	0.0060	-36	c.151 others(53): Show c.1513-630_1513-595delTTCTTTCTTTCTTTCTTTCTCTTTCTTT CTTTCTTT		STAT6	ENSG00000166888.12	transcript	ENST00000300134.8	protein_coding	13/21						chr12	TogoVar
STAT6_chr12_57090408_57116362	57100688	GAAAGAAA others(29): Show GAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG00558.hp1 others(5): Show HG00408.hp2 HG00544.hp1 HG00558.hp1 HG01167.hp1 HG01346.hp2 HG01358.hp1 HG02027.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0020 a0001c0001t0003 a0001c0001t0010 a0001c0001t0020	a0001c0001t0003g0041 a0001c0001t0003g0119 a0001c0001t0003g0145 others(4): Show a0001c0001t0003g0041 a0001c0001t0003g0119 a0001c0001t0003g0145 a0001c0001t0003g0167 a0001c0001t0003g0188 a0001c0001t0010g0227 a0001c0001t0020g0234	8	329	0.0243	-36	c.151 others(53): Show c.1513-634_1513-599delTTCTTTCTTTCTTTCTTTCTTTCTCTTT CTTTCTTT		STAT6	ENSG00000166888.12	transcript	ENST00000300134.8	protein_coding	13/21						chr12	TogoVar
STIM1_chr11_3850664_4098208	3895647	TTTCTTTC others(29): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG03704.hp1 NA19001.hp1 others(1): Show HG02004.hp2 HG03704.hp1 NA19001.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0183 a0001c0002t0001g0112 a0001c0002t0001g0132 others(1): Show a0001c0001t0001g0183 a0001c0002t0001g0112 a0001c0002t0001g0132 a0001c0002t0001g0141	4	298	0.0134	-36	c.139 others(55): Show c.139+39266_139+39301delCTTCCTTCCTTCTTTCTTTCTTTCTT TCTTTCTTTC		STIM1	ENSG00000167323.13	transcript	ENST00000526596.2	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
STIM2_chr4_26855841_27030381	26885821	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0267 a0001c0001t0004g0267	1	110	0.0091	-36	c.151 others(55): Show c.151+24470_151+24505delATATATATATATATATATATATATAT ATATATATAT		STIM2	ENSG00000109689.20	transcript	ENST00000467087.7	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr4	TogoVar
STK10_chr5_172037079_172193224	172190150	AGTAGATT others(29): Show AGTAGATTAATGGTTGCCTGGAGCTGGGTGTGAAATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0181 a0001c0004t0001g0181	1	230	0.0043	-36	c.-21 others(47): Show c.-2144_-2109delCATTTCACACCCAGCTCCAGGCAACCATTAATCT AC		STK10	ENSG00000072786.13	transcript	ENST00000176763.10	protein_coding					1927		chr5	TogoVar
STK32B_chr4_5046480_5505989	5064770	ATATACAT others(29): Show ATATACATATATAATATATAAATATATACTTATGTTG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01256.hp1 HG01516.hp1 others(8): Show HG00738.hp1 HG01256.hp1 HG01516.hp1 HG01928.hp2 HG01934.hp1 HG02083.hp1 HG02155.hp1 HG02300.hp1 HG03669.hp1 NA18990.hp2 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 a0001c0001 a0002c0002 a0002c0004	a0001c0001t0001 a0001c0001t0016 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0016 a0002c0002t0001 a0002c0004t0003	a0001c0001t0001g0028 a0001c0001t0001g0038 a0001c0001t0001g0043 others(8): Show a0001c0001t0001g0028 a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0060 a0001c0001t0001g0082 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0166 a0001c0001t0016g0055 a0002c0002t0001g0026 a0002c0004t0003g0029	11	168	0.0655	-36	c.52+ others(53): Show c.52+12883_52+12918delCTTATGTTGTATACATATATAATATATA AATATATA		STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr4	TogoVar
STK32B_chr4_5046480_5505989	5100410	CTCCCTCC others(29): Show CTCCCTCCTTGCCTTCCTTCCCTCCTTCCTCCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	165	0.0061	-36	c.53- others(53): Show c.53-39491_53-39456delCTCCTTGCCTTCCTTCCCTCCTTCCTCC TTTCTTCC		STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr4	TogoVar
STK32B_chr4_5046480_5505989	5249441	ACCTTCCT others(29): Show ACCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG03209.hp2 HG03540.hp2 others(3): Show HG01167.hp2 HG03209.hp2 HG03540.hp2 NA18522.hp1 NA19030.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0004 a0002c0007 a0001c0003 a0002c0004 a0002c0007	a0001c0003t0001 a0001c0003t0002 a0002c0004t0020 others(1): Show a0001c0003t0001 a0001c0003t0002 a0002c0004t0020 a0002c0007t0010	a0001c0003t0001g0018 a0001c0003t0001g0061 a0001c0003t0001g0112 others(3): Show a0001c0003t0001g0018 a0001c0003t0001g0061 a0001c0003t0001g0112 a0001c0003t0002g0048 a0002c0004t0020g0073 a0002c0007t0010g0003	6	81	0.0741	-36	c.260 others(55): Show c.260+81019_260+81054delTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCT		STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr4	TogoVar
STK32C_chr10_132202492_132312950	132235042	GTGGTATG others(29): Show GTGGTATGAACTGTCTGAGTGGTGTGAGCTGTGTGAC	G G	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0231 a0001c0005t0002g0231	1	366	0.0027	-36	c.319 others(53): Show c.319-6950_319-6915delGTCACACAGCTCACACCACTCAGACAGT TCATACCA		STK32C	ENSG00000165752.17	transcript	ENST00000298630.8	protein_coding	2/11						chr10	TogoVar
STON1_chr2_48525154_48603513	48564459	TTCTTCTT others(29): Show TTCTTCTTCTTCTTCTTCTTCTTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0001 a0013c0015t0001	a0013c0015t0001g0303 a0013c0015t0001g0303	1	373	0.0027	-36	c.-47 others(55): Show c.-47-16126_-47-16091delCTTCTTCTTCTTCTTCTTCTTTCTTC TTCTTCTTCT		STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
STRIP1_chr1_110029624_110059641	110040849	AGTAGGAA others(29): Show AGTAGGAACTGCTGAGGGCTCGTCCTAGGTGGGACTC	A A	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	404	0.0025	-36	c.650 others(51): Show c.650+147_650+182delGTAGGAACTGCTGAGGGCTCGTCCTAGGTG GGACTC		STRIP1	ENSG00000143093.15	transcript	ENST00000369795.8	protein_coding	6/20						chr1	TogoVar
STX6_chr1_180967725_181027870	181023086	CCTCTCTC others(29): Show CCTCTCTCTCCTCTCTCTCCTCTCTCTCTCTCTCTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0016 a0001c0002t0002g0016	1	292	0.0034	-36	c.-44 others(45): Show c.-449_-414delAGAGAGAGAGAGAGAGAGGAGAGAGAGGAGAGAGAG		STX6	ENSG00000135823.14	transcript	ENST00000258301.6	protein_coding					217		chr1	TogoVar
STXBP3_chr1_108741674_108814523	108771416	AATATATA others(29): Show AATATATAAATATATATGATATATATCTATATATATC	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0106	1	317	0.0032	-36	c.439 others(53): Show c.439-1188_439-1153delTCTATATATATCATATATAAATATATAT GATATATA		STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18					INFO_REALIGN_3_PRIME	chr1	TogoVar
STXBP3_chr1_108741674_108814523	108771558	GATATATA others(29): Show GATATATAAATATATATGATATATATCTATATATATC	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp1 HG02738.hp2 others(1): Show HG00597.hp1 HG00609.hp1 HG02738.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0043 others(1): Show a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0151	4	232	0.0172	-36	c.439 others(53): Show c.439-1073_439-1038delATCATATATAAATATATATGATATATAT CTATATAT		STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18					INFO_REALIGN_3_PRIME	chr1	TogoVar
STXBP3_chr1_108741674_108814523	108771620	CTATATAT others(29): Show CTATATATCATATATAAATATATATGATATATATCTA	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01071.hp2 HG01074.hp2 others(6): Show HG00558.hp1 HG01071.hp2 HG01074.hp2 HG02135.hp2 HG02559.hp2 HG02615.hp2 HG02622.hp1 HG03486.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0023 a0001c0001t0002g0025 others(6): Show a0001c0001t0002g0008 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0032 a0001c0001t0002g0052 a0001c0001t0002g0073 a0001c0001t0002g0124	9	191	0.0471	-36	c.439 others(52): Show c.439-1015_439-980delATATCTATATATATCATATATAAATATAT ATGATAT		STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18					INFO_REALIGN_3_PRIME	chr1	TogoVar
STXBP3_chr1_108741674_108814523	108771650	ATATCTAT others(29): Show ATATCTATATATATCATATATAAATATATATGATATC	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp2 HG00733.hp2 others(38): Show HG00408.hp1 HG00597.hp2 HG00733.hp2 HG00735.hp2 HG01081.hp1 HG01358.hp1 HG01884.hp1 HG02015.hp1 HG02071.hp2 HG02145.hp1 HG02258.hp1 HG02280.hp1 HG02486.hp2 HG02647.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03453.hp1 HG03471.hp2 HG03492.hp1 HG03927.hp1 HG03942.hp1 HG06807.hp1 NA18941.hp2 NA18944.hp1 NA18946.hp2 NA18947.hp2 NA18951.hp1 NA18962.hp1 NA18967.hp2 NA18971.hp1 NA18977.hp2 NA18987.hp1 NA18991.hp1 NA19004.hp1 NA19005.hp1 NA19060.hp1 NA19063.hp2 NA19068.hp2 NA19085.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0021 others(37): Show a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0021 a0001c0001t0002g0024 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0046 a0001c0001t0002g0049 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0096 a0001c0001t0002g0102 a0001c0001t0002g0119 a0001c0001t0002g0125 a0001c0001t0002g0131 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0003g0017 a0001c0001t0003g0022 a0001c0001t0003g0029 a0001c0001t0003g0123	41	316	0.1297	-36	c.439 others(51): Show c.439-931_439-896delATCATATATAAATATATATGATATCTATCT ATATAT		STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18					INFO_REALIGN_3_PRIME	chr1	TogoVar
STYK1_chr12_10613923_10679052	10630032	GGAGAGAG others(29): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0011 a0003c0005t0011	a0003c0005t0011g0074 a0003c0005t0011g0074	1	7	0.1429	-36	c.452 others(51): Show c.452-394_452-359delTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTC		STYK1	ENSG00000060140.9	transcript	ENST00000075503.8	protein_coding	5/10						chr12	TogoVar
STYXL1_chr7_75991342_76053000	76046274	CTGTGTGT others(29): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0153 a0001c0002t0002g0153	1	211	0.0047	-36	c.-5+ others(51): Show c.-5+1352_-5+1387delCACACACACACACACACACACACACACACA CACACA		STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	1/8						chr7	TogoVar
STYXL1_chr7_75991342_76053000	76046313	TGTGTGTG others(29): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01943.hp2 HG01952.hp1 others(21): Show HG00609.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG02027.hp2 HG02040.hp2 HG02273.hp1 HG02300.hp1 NA18939.hp2 NA18963.hp1 NA18965.hp1 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19012.hp2 NA19057.hp1 NA19066.hp2 NA19080.hp1 NA19084.hp1 NA19090.hp1 NA19091.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0008 a0002c0004t0001 a0002c0004t0008	a0002c0004t0001g0166 a0002c0004t0001g0168 a0002c0004t0001g0169 others(21): Show a0002c0004t0001g0166 a0002c0004t0001g0168 a0002c0004t0001g0169 a0002c0004t0001g0180 a0002c0004t0001g0181 a0002c0004t0001g0184 a0002c0004t0001g0185 a0002c0004t0001g0187 a0002c0004t0001g0188 a0002c0004t0001g0191 a0002c0004t0001g0192 a0002c0004t0001g0193 a0002c0004t0001g0194 a0002c0004t0001g0195 a0002c0004t0001g0196 a0002c0004t0001g0197 a0002c0004t0001g0198 a0002c0004t0001g0200 a0002c0004t0001g0202 a0002c0004t0001g0203 a0002c0004t0001g0204 a0002c0004t0001g0205 a0002c0004t0001g0206 a0002c0004t0008g0199	24	348	0.0690	-36	c.-5+ others(51): Show c.-5+1313_-5+1348delGCGCGCGCGCACACACACACACACACACAC ACACAC		STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	1/8						chr7	TogoVar
STYXL1_chr7_75991342_76053000	76046315	TGTGTGTG others(29): Show TGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGC	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0350 a0001c0003t0005g0350	1	341	0.0029	-36	c.-5+ others(51): Show c.-5+1311_-5+1346delGCGCGCGCGCGCACACACACACACACACAC ACACAC		STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	1/8						chr7	TogoVar
STYXL2_chr1_167089075_167134165	167120829	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00597.hp2 others(120): Show HG00408.hp1 HG00408.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG01167.hp1 HG01169.hp1 HG01192.hp1 HG01243.hp2 HG01433.hp2 HG01884.hp1 HG01934.hp1 HG01993.hp2 HG02056.hp2 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03471.hp2 HG03490.hp2 HG03516.hp1 HG03654.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG06807.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18955.hp1 NA18956.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18965.hp1 NA18966.hp2 NA18971.hp1 NA18974.hp2 NA18975.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp2 NA18982.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18992.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19007.hp2 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19043.hp2 NA19056.hp2 NA19057.hp2 NA19068.hp2 NA19072.hp1 NA19074.hp1 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19081.hp2 NA19082.hp2 NA19086.hp1 NA19089.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA21309.hp2	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0006 a0007 a0008 a0010 a0012 a0014 a0017 a0020 a0022 a0023	a0001c0001 a0001c0007 a0001c0011 others(15): Show a0001c0001 a0001c0007 a0001c0011 a0002c0002 a0002c0017 a0003c0003 a0003c0016 a0006c0006 a0007c0008 a0007c0013 a0008c0010 a0010c0012 a0012c0023 a0014c0022 a0017c0018 a0020c0019 a0022c0021 a0023c0024	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(20): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0007t0001 a0001c0011t0001 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0017t0003 a0003c0003t0002 a0003c0016t0002 a0006c0006t0005 a0007c0008t0002 a0007c0013t0005 a0008c0010t0003 a0008c0010t0004 a0010c0012t0001 a0012c0023t0002 a0014c0022t0001 a0017c0018t0001 a0020c0019t0001 a0022c0021t0001 a0023c0024t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(92): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0031 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0249 a0001c0001t0001g0257 a0001c0001t0001g0261 a0001c0001t0003g0001 a0001c0001t0003g0093 a0001c0001t0006g0048 a0001c0001t0006g0060 a0001c0001t0006g0203 a0001c0007t0001g0001 a0001c0007t0001g0006 a0001c0007t0001g0097 a0001c0011t0001g0035 a0002c0002t0001g0101 a0002c0002t0003g0011 a0002c0002t0003g0019 a0002c0002t0003g0061 a0002c0002t0003g0072 a0002c0002t0003g0119 a0002c0002t0003g0123 a0002c0002t0003g0127 a0002c0002t0004g0079 a0002c0002t0004g0095 a0002c0002t0004g0099 a0002c0017t0003g0239 a0003c0003t0002g0020 a0003c0003t0002g0047 a0003c0003t0002g0057 a0003c0003t0002g0065 a0003c0003t0002g0068 a0003c0003t0002g0109 a0003c0003t0002g0121 a0003c0003t0002g0215 a0003c0016t0002g0241 a0006c0006t0005g0003 a0006c0006t0005g0012 a0007c0008t0002g0262 a0007c0013t0005g0067 a0008c0010t0003g0003 a0008c0010t0004g0056 a0010c0012t0001g0001 a0010c0012t0001g0104 a0012c0023t0002g0001 a0014c0022t0001g0126 a0017c0018t0001g0010 a0020c0019t0001g0077 a0022c0021t0001g0001 a0023c0024t0001g0023	123	124	0.9919	-36	c.655 others(53): Show c.655+1385_655+1420delTATATATATATATATATATATATATATA TATATATA		STYXL2	ENSG00000198842.10	transcript	ENST00000361200.7	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
SULF1_chr8_69487847_69665912	69616129	TATATATA others(29): Show TATATATATACACACATATATGTGTGTGTATATATAC	T T	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18967.hp2 NA19068.hp2 NA18940.hp2 NA18967.hp2 NA19068.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0003 a0004c0005t0005 a0004c0005t0001 a0004c0005t0003 a0004c0005t0005	a0004c0005t0001g0217 a0004c0005t0003g0028 a0004c0005t0005g0111 a0004c0005t0001g0217 a0004c0005t0003g0028 a0004c0005t0005g0111	3	294	0.0102	-36	c.137 others(55): Show c.1378-4897_1378-4862delACACACATATATGTGTGTGTATATAT ACATATATAT		SULF1	ENSG00000137573.14	transcript	ENST00000402687.9	protein_coding	13/22					INFO_REALIGN_3_PRIME	chr8	TogoVar
SULF1_chr8_69487847_69665912	69617373	CTATATAT others(29): Show CTATATATATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02055.hp1 HG02559.hp2 others(9): Show HG00323.hp2 HG02055.hp1 HG02559.hp2 HG02647.hp1 HG02723.hp2 HG03017.hp2 HG03688.hp1 HG03710.hp2 HG04115.hp1 HG04199.hp2 HG04204.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0015 a0001c0001t0021	a0001c0001t0001g0008 a0001c0001t0001g0235 a0001c0001t0001g0241 others(9): Show a0001c0001t0001g0008 a0001c0001t0001g0235 a0001c0001t0001g0241 a0001c0001t0002g0113 a0001c0001t0003g0055 a0001c0001t0003g0177 a0001c0001t0005g0187 a0001c0001t0007g0051 a0001c0001t0010g0006 a0001c0001t0010g0225 a0001c0001t0015g0133 a0001c0001t0021g0117	12	29	0.4138	-36	c.137 others(55): Show c.1378-3636_1378-3601delATATATATATATATATATATATATAT ATATATATAT		SULF1	ENSG00000137573.14	transcript	ENST00000402687.9	protein_coding	13/22					INFO_REALIGN_3_PRIME	chr8	TogoVar
SULF2_chr20_47652406_47790481	47745396	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	350	0.0029	-36	c.176 others(53): Show c.176-8490_176-8455delATATATATATATATATATATATTTTTTT TTTTTTTT		SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	2/20						chr20	TogoVar
SULT1B1_chr4_69716167_69765620	69726030	GTACATAT others(29): Show GTACATATATATATATATATATATATATATATATATA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00423.hp2 others(33): Show HG00140.hp1 HG00280.hp1 HG00423.hp2 HG00544.hp2 HG00621.hp1 HG01361.hp2 HG01928.hp1 HG01952.hp1 HG01975.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02135.hp1 HG02258.hp2 HG02622.hp1 HG02698.hp2 HG02970.hp2 HG03209.hp2 HG04228.hp2 NA18612.hp2 NA18953.hp2 NA18960.hp2 NA18965.hp1 NA18967.hp1 NA18979.hp1 NA18982.hp1 NA18983.hp1 NA18988.hp1 NA18989.hp1 NA19000.hp2 NA19004.hp2 NA19009.hp1 NA19030.hp2 NA19064.hp1 NA19086.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0008 a0001c0001t0021 others(9): Show a0001c0001t0006 a0001c0001t0008 a0001c0001t0021 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0041 a0001c0001t0042 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063	a0001c0001t0006g0005 a0001c0001t0006g0171 a0001c0001t0006g0172 others(13): Show a0001c0001t0006g0005 a0001c0001t0006g0171 a0001c0001t0006g0172 a0001c0001t0008g0008 a0001c0001t0008g0034 a0001c0001t0008g0201 a0001c0001t0021g0040 a0001c0001t0036g0174 a0001c0001t0037g0173 a0001c0001t0038g0176 a0001c0001t0039g0175 a0001c0001t0041g0109 a0001c0001t0042g0107 a0001c0001t0061g0199 a0001c0001t0062g0202 a0001c0001t0063g0200	36	404	0.0891	-36	c.10 others(47): Show c.1022_*1057delTATATATATATATATATATATATATATATATATG TA		SULT1B1	ENSG00000173597.9	transcript	ENST00000310613.8	protein_coding	8/8				1022		chr4	TogoVar
SUN1_chr7_827476_879934	864647	GACAAAGA others(29): Show GACAAAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC	G G	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0069 a0002c0002t0001g0069	1	416	0.0024	-36	c.186 others(55): Show c.1865-1303_1865-1268delCAAAGAGTCTCGCTCTGTCGCCCAGG CTGGAGTGCA		SUN1	ENSG00000164828.18	transcript	ENST00000401592.6	protein_coding	15/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
SUPT20HL1_chrX_24355639_24372839	24364290	TGCTGCTG others(29): Show TGCTGCTGCTGCTGCTGCTGCTCCTGCTCCTGCTCTA	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01243.hp1 HG01891.hp2 HG02647.hp1 others(4): Show HG01243.hp1 HG01891.hp2 HG02647.hp1 HG02717.hp1 HG02809.hp1 HG03098.hp1 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0000 a0002c0002t0003g0000	7	313	0.0224	-36	c.154 others(45): Show c.1546_1581delGCTGCTCCTGCTCCTGCTCTAGCTGCTGCTGCTGCT	p.Ala others(13): Show p.Ala516_Ala527del	SUPT20HL1	ENSG00000223731.4	transcript	ENST00000686983.1	protein_coding	1/1	3668/7201	1546/2664	516/887		INFO_REALIGN_3_PRIME	chrX	TogoVar
SUPT3H_chr6_44821726_45382934	45212481	ATGTGTGT others(29): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01257.hp1 HG01258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0002g0112 a0001c0002t0002g0113	2	183	0.0109	-36	c.102 others(57): Show c.102-106511_102-106476delCACACACACACACACACACACACA CACACACACACA		SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10						chr6	TogoVar
SUPT3H_chr6_44821726_45382934	45288563	ATGTATAT others(29): Show ATGTATATATATATATATATGTATATATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03453.hp2 HG03540.hp2 others(7): Show HG01243.hp2 HG03453.hp2 HG03540.hp2 HG04199.hp1 NA18955.hp1 NA18981.hp1 NA18986.hp2 NA19000.hp1 NA19081.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0069 a0001c0001t0001g0080 a0001c0001t0001g0088 others(7): Show a0001c0001t0001g0069 a0001c0001t0001g0080 a0001c0001t0001g0088 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0226 a0001c0001t0001g0234 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0013g0059	10	231	0.0433	-36	c.101 others(55): Show c.101+76602_101+76637delCACATATATATATATACATATATATA TATATATACA		SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10						chr6	TogoVar
SUSD4_chr1_223215831_223369176	223304793	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	4	0.2500	-36	c.149 others(55): Show c.149-12178_149-12143delATATATATATATATATATATATATAT ATATATATAT		SUSD4	ENSG00000143502.16	transcript	ENST00000366878.9	protein_coding	2/8						chr1	TogoVar
SV2C_chr5_76078383_76338956	76223440	CATACATA others(29): Show CATACATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA19030.hp2 HG01243.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0089 a0002c0003t0129 a0001c0002t0089 a0002c0003t0129	a0001c0002t0089g0081 a0002c0003t0129g0177 a0001c0002t0089g0081 a0002c0003t0129g0177	2	179	0.0112	-36	c.913 others(55): Show c.913+13557_913+13592delCATATATATATATATATATATATATA TATATATATA		SV2C	ENSG00000122012.14	transcript	ENST00000502798.7	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr5	TogoVar
SVEP1_chr9_110360248_110584741	110390111	ATATATAC others(29): Show ATATATACATACATACTTATATAAGTATATATACAAG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00609.hp1 others(24): Show HG00323.hp2 HG00408.hp2 HG00609.hp1 HG00621.hp2 HG01346.hp2 HG01433.hp2 HG01496.hp2 HG02040.hp2 HG02135.hp2 NA18747.hp1 NA18939.hp2 NA18954.hp1 NA18961.hp1 NA18979.hp1 NA18982.hp1 NA18987.hp2 NA18999.hp1 NA19000.hp1 NA19009.hp2 NA19010.hp1 NA19060.hp1 NA19068.hp1 NA19080.hp2 NA19081.hp2 NA19083.hp2 NA19088.hp2 NA19090.hp2	a0003 a0009 a0016 others(10): Show a0003 a0009 a0016 a0019 a0026 a0027 a0028 a0035 a0058 a0060 a0062 a0071 a0075	a0003c0004 a0009c0010 a0016c0012 others(10): Show a0003c0004 a0009c0010 a0016c0012 a0019c0015 a0026c0018 a0027c0028 a0028c0072 a0035c0027 a0058c0037 a0060c0063 a0062c0151 a0071c0086 a0075c0090	a0003c0004t0001 a0009c0010t0003 a0016c0012t0003 others(10): Show a0003c0004t0001 a0009c0010t0003 a0016c0012t0003 a0019c0015t0003 a0026c0018t0003 a0027c0028t0003 a0028c0072t0003 a0035c0027t0003 a0058c0037t0003 a0060c0063t0003 a0062c0151t0003 a0071c0086t0003 a0075c0090t0003	a0003c0004t0001g0320 a0009c0010t0003g0169 a0009c0010t0003g0242 others(24): Show a0003c0004t0001g0320 a0009c0010t0003g0169 a0009c0010t0003g0242 a0009c0010t0003g0327 a0016c0012t0003g0145 a0016c0012t0003g0152 a0016c0012t0003g0170 a0016c0012t0003g0304 a0019c0015t0003g0135 a0019c0015t0003g0146 a0026c0018t0003g0156 a0026c0018t0003g0311 a0026c0018t0003g0313 a0026c0018t0003g0319 a0027c0028t0003g0044 a0027c0028t0003g0185 a0027c0028t0003g0186 a0028c0072t0003g0307 a0035c0027t0003g0168 a0035c0027t0003g0187 a0035c0027t0003g0265 a0058c0037t0003g0226 a0058c0037t0003g0336 a0060c0063t0003g0020 a0062c0151t0003g0356 a0071c0086t0003g0201 a0075c0090t0003g0231	27	334	0.0808	-36	c.982 others(53): Show c.9823-560_9823-525delCTTGTATATATACTTATATAAGTATGTA TGTATATA		SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	40/47						chr9	TogoVar
SVOPL_chr7_138589285_138706362	138621882	CTATCTAT others(29): Show CTATCTATCTATCTATCTATCTATGTATCTATCTATG	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02723.hp1 HG02572.hp1 HG02723.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0006 a0001c0005 a0002c0006	a0001c0005t0001 a0002c0006t0006 a0001c0005t0001 a0002c0006t0006	a0001c0005t0001g0063 a0002c0006t0006g0359 a0001c0005t0001g0063 a0002c0006t0006g0359	2	284	0.0070	-36	c.126 others(53): Show c.1264-783_1264-748delCATAGATAGATACATAGATAGATAGATA GATAGATA		SVOPL	ENSG00000157703.16	transcript	ENST00000674285.1	protein_coding	13/15						chr7	TogoVar
SVOPL_chr7_138589285_138706362	138621910	CTATCTAT others(29): Show CTATCTATGTATCTATCTATGTATCTATCTATCTATG	C C	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0198 a0001c0008t0002g0198	1	268	0.0037	-36	c.126 others(53): Show c.1264-811_1264-776delCATAGATAGATAGATACATAGATAGATA CATAGATA		SVOPL	ENSG00000157703.16	transcript	ENST00000674285.1	protein_coding	13/15						chr7	TogoVar
SVOPL_chr7_138589285_138706362	138621990	GTATCTAT others(29): Show GTATCTATCTATCTATGTATCTATCTATGTATCTATC	G G	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	336	0.0030	-36	c.126 others(53): Show c.1264-891_1264-856delGATAGATACATAGATAGATACATAGATA GATAGATA		SVOPL	ENSG00000157703.16	transcript	ENST00000674285.1	protein_coding	13/15						chr7	TogoVar
SVOPL_chr7_138589285_138706362	138622146	CTATGTAT others(29): Show CTATGTATCTATCTGTCTATGTATCTATCTGTCTATG	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0063 a0001c0005t0001g0063	1	358	0.0028	-36	c.126 others(55): Show c.1264-1047_1264-1012delCATAGACAGATAGATACATAGACAGA TAGATACATA		SVOPL	ENSG00000157703.16	transcript	ENST00000674285.1	protein_coding	13/15						chr7	TogoVar
SVOPL_chr7_138589285_138706362	138622160	GTCTATGT others(29): Show GTCTATGTATCTATCTGTCTATGTATCTATCTATCTA	G G	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0226 a0001c0005t0001g0226	1	348	0.0029	-36	c.126 others(55): Show c.1264-1061_1264-1026delTAGATAGATAGATACATAGACAGATA GATACATAGA		SVOPL	ENSG00000157703.16	transcript	ENST00000674285.1	protein_coding	13/15						chr7	TogoVar
SVOPL_chr7_138589285_138706362	138622186	CTATCTAT others(29): Show CTATCTATCTATCTATGTATCTATCTATCTATCTATG	C C	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0147 a0002c0003t0001g0147	1	337	0.0030	-36	c.126 others(55): Show c.1264-1087_1264-1052delCATAGATAGATAGATAGATACATAGA TAGATAGATA		SVOPL	ENSG00000157703.16	transcript	ENST00000674285.1	protein_coding	13/15						chr7	TogoVar
SVOPL_chr7_138589285_138706362	138622218	CTATGTAT others(29): Show CTATGTATCTATCTATGTATCTATCTATCTATCTATG	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02922.hp2 HG03130.hp1 HG02486.hp1 HG02922.hp2 HG03130.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0020 a0001c0001 a0008c0020	a0001c0001t0001 a0008c0020t0001 a0001c0001t0001 a0008c0020t0001	a0001c0001t0001g0148 a0001c0001t0001g0333 a0008c0020t0001g0017 a0001c0001t0001g0148 a0001c0001t0001g0333 a0008c0020t0001g0017	3	254	0.0118	-36	c.126 others(55): Show c.1264-1119_1264-1084delCATAGATAGATAGATAGATACATAGA TAGATACATA		SVOPL	ENSG00000157703.16	transcript	ENST00000674285.1	protein_coding	13/15						chr7	TogoVar
SWAP70_chr11_9659077_9757993	9675320	CGAGAGAG others(29): Show CGAGAGAGAGAGAGAGAGAGAGGGAGCGAGAGAGAGA	C C	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0097 a0002c0004t0005g0097	1	258	0.0039	-36	c.99+ others(53): Show c.99+11064_99+11099delGGAGCGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAG		SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr11	TogoVar
SWAP70_chr11_9659077_9757993	9675346	CGAGAGAG others(29): Show CGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0020 a0001c0002t0002g0020	1	209	0.0048	-36	c.99+ others(53): Show c.99+11108_99+11143delAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAG		SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr11	TogoVar
SWI5_chr9_128271276_128293989	128291978	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG01099.hp2 HG01243.hp1 others(10): Show HG00741.hp1 HG01099.hp2 HG01243.hp1 HG01358.hp1 HG01891.hp1 HG02486.hp2 HG02886.hp1 HG02897.hp1 HG02922.hp1 HG03209.hp2 HG03471.hp1 HG03516.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0026 a0001c0001t0001g0121 a0001c0001t0001g0155 others(9): Show a0001c0001t0001g0026 a0001c0001t0001g0121 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0002t0001g0044 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0168 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0172	13	15	0.8667	-36	c.32 others(47): Show c.3263_*3298delAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA		SWI5	ENSG00000175854.15	transcript	ENST00000418976.3	protein_coding					2990		chr9	TogoVar
SYN3_chr22_32502820_33063381	32990376	GCATCCAT others(29): Show GCATCCATCCACCCATCCATCCATCCATCCAGCCATC	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02723.hp2 HG06807.hp2 others(1): Show HG02258.hp1 HG02723.hp2 HG06807.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0007 others(1): Show a0001c0001 a0001c0004 a0001c0007 a0002c0002	a0001c0001t0032 a0001c0004t0017 a0001c0007t0080 others(1): Show a0001c0001t0032 a0001c0004t0017 a0001c0007t0080 a0002c0002t0004	a0001c0001t0032g0150 a0001c0004t0017g0055 a0001c0007t0080g0112 others(1): Show a0001c0001t0032g0150 a0001c0004t0017g0055 a0001c0007t0080g0112 a0002c0002t0004g0111	4	184	0.0217	-36	c.312 others(53): Show c.312-9710_312-9675delGATGGCTGGATGGATGGATGGATGGGTG GATGGATG		SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	2/13						chr22	TogoVar
SYN3_chr22_32502820_33063381	33028655	GTGGTGGT others(29): Show GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0023 a0002c0002t0023	a0002c0002t0023g0119 a0002c0002t0023g0119	1	183	0.0055	-36	c.-16 others(57): Show c.-162-21867_-162-21832delTCACCACCACCACCACCACCACCA CCACCACCACCA		SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	1/13						chr22	TogoVar
SYNCRIP_chr6_85608976_85647886	85642935	CCGATCCA others(29): Show CCGATCCAGTTCCACTCGCCTCCGAGCGCGCTCCCGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	362	0.0028	-36	c.-18 others(45): Show c.-187_-152delCCGGGAGCGCGCTCGGAGGCGAGTGGAACTGGATCG		SYNCRIP	ENSG00000135316.20	transcript	ENST00000369622.8	protein_coding					50		chr6	TogoVar
SYNCRIP_chr6_85608976_85647886	85643811	GTCCACGC others(29): Show GTCCACGCCGCTGCCACCGCCCCGCGCTCTCCTCCTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	362	0.0028	-36	c.-10 others(47): Show c.-1063_-1028delGAGGAGGAGAGCGCGGGGCGGTGGCAGCGGCGTG GA		SYNCRIP	ENSG00000135316.20	transcript	ENST00000369622.8	protein_coding					926		chr6	TogoVar
SYNE2_chr14_63848004_64231433	64014944	TATATATA others(29): Show TATATATATATATATATATATATATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0014 a0014	a0014c0071 a0014c0071	a0014c0071t0001 a0014c0071t0001	a0014c0071t0001g0129 a0014c0071t0001g0129	1	148	0.0068	-36	c.472 others(55): Show c.4729-1527_4729-1492delTATATATATATATATATATATATATA TATACACACA		SYNE2	ENSG00000054654.20	transcript	ENST00000555002.6	protein_coding	32/115					INFO_REALIGN_3_PRIME	chr14	TogoVar

Search by Variant

Search

Search Results