Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	260	0.0039	23	c.-12 others(34): Show c.-1200_-1199insATATATATATATATATATATATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(16): Show ATATATATATATATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0022 a0022	a0022c0024 a0022c0024	a0022c0024t0002 a0022c0024t0002	a0022c0024t0002g0251 a0022c0024t0002g0251	1	260	0.0039	23	c.-12 others(34): Show c.-1200_-1199insAAAAAAAAAAATATATATATATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(16): Show ATATATATATATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG02027.hp1 HG01257.hp1 HG02027.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0174 a0002c0002t0002g0211 a0002c0002t0002g0174 a0002c0002t0002g0211	2	260	0.0077	23	c.-12 others(34): Show c.-1200_-1199insAAAAAAAAAAAAATATATATATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(16): Show ATATATATATTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG00741.hp1 HG01433.hp1 others(5): Show HG00609.hp2 HG00741.hp1 HG01433.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02300.hp1 NA19067.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0192 a0002c0002t0001g0215 a0002c0002t0002g0071 others(5): Show a0002c0002t0001g0192 a0002c0002t0001g0215 a0002c0002t0002g0071 a0002c0002t0002g0180 a0002c0002t0002g0185 a0002c0002t0002g0197 a0002c0002t0002g0199 a0002c0002t0002g0220	8	260	0.0308	23	c.-12 others(34): Show c.-1200_-1199insAAAAAAAAAAAAAAATATATATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(16): Show ATATATATTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0188 a0002c0002t0001g0188	1	260	0.0039	23	c.-12 others(34): Show c.-1200_-1199insAAAAAAAAAAAAAAAAATATATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCK1_chr5_136970298_137504326	137131989	A A	AAAAATAT others(16): Show AAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	152	0.0066	23	c.347 others(40): Show c.347+8590_347+8591insATATATATATATATATATATTTT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	4/10			chr5	TogoVar
SPOCK3_chr4_166728384_167239494	166728827	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	144	0.0069	23	c.60 others(34): Show c.6093_*6094insTTTTTTTTTTTTTTTTTTTTTTT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding		4556		chr4	TogoVar
SPOCK3_chr4_166728384_167239494	166800183	G G	GAAAAAAA others(16): Show GAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	144	0.0069	23	c.590 others(40): Show c.590-7917_590-7895dupTTTTTTTTTTTTTTTTTTTTTTT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	6/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167065037	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	144	0.0069	23	c.190 others(40): Show c.190-2523_190-2501dupTTTTTTTTTTTTTTTTTTTTTTT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167116686	C C	CACATATA others(16): Show CACATATAGTATATATGTATATAT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0124 a0001c0001t0002g0124	1	144	0.0069	23	c.190 others(42): Show c.190-54150_190-54149insATATATACATATATACTATATGT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPPL2A_chr15_50697266_50770706	50703356	A A	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0138 a0001c0001t0138	a0001c0001t0138g0250 a0001c0001t0138g0250	1	336	0.0030	23	c.44 others(34): Show c.4443_*4444insAAAAAAAAATATATATATATATA	SPPL2A	ENSG00000138600.11	transcript	ENST00000261854.10	protein_coding	15/15	4443		chr15	TogoVar
SPPL2A_chr15_50697266_50770706	50765255	C C	CGGGAAAG others(16): Show CGGGAAAGTTGGGGGAAAGAGGGT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02922.hp2 HG02818.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0009 a0001c0001t0023g0010 a0001c0001t0023g0009 a0001c0001t0023g0010	2	336	0.0060	23	c.66+ others(36): Show c.66+190_66+212dupACCCTCTTTCCCCCAACTTTCCC	SPPL2A	ENSG00000138600.11	transcript	ENST00000261854.10	protein_coding	1/14			chr15	TogoVar
SPPL2B_chr19_2323684_2360095	2338957	T T	TGGCCCCT others(16): Show TGGCCCCTGCAGGCCAGGGTCTCC	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0236 a0001c0001t0002g0236	1	414	0.0024	23	c.460 others(37): Show c.460-111_460-89dupGGCCCCTGCAGGCCAGGGTCTCC	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPPL3_chr12_120757510_120909358	120830606	A A	AGAGAGAG others(16): Show AGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0303 a0001c0001t0019g0303	1	320	0.0031	23	c.24- others(40): Show c.24-19721_24-19720insCTCTCTCTCTCTCTCTCTCTCTC	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10			chr12	TogoVar
SPPL3_chr12_120757510_120909358	120871130	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG03491.hp2 HG03492.hp2 others(2): Show HG01175.hp2 HG03491.hp2 HG03492.hp2 NA18941.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0017 a0001c0001t0004 a0001c0001t0017	a0001c0001t0004g0158 a0001c0001t0004g0162 a0001c0001t0004g0167 others(2): Show a0001c0001t0004g0158 a0001c0001t0004g0162 a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0017g0128	5	320	0.0156	23	c.23+ others(40): Show c.23+32714_23+32715insTTTTTTTTTTTTTTTTTTTTTTT	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10			chr12	TogoVar
SPRED1_chr15_38247836_38362249	38310115	T T	TGTGTGTG others(16): Show TGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0230 a0001c0001t0002g0230	1	378	0.0027	23	c.207 others(42): Show c.207+10568_207+10569insGTGTGTGTGTGTGTGTGTGTGTG	SPRED1	ENSG00000166068.13	transcript	ENST00000299084.9	protein_coding	2/6			chr15	TogoVar
SPRED1_chr15_38247836_38362249	38310153	G G	GTGTGTGT others(16): Show GTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0333 a0001c0001t0004g0333	1	378	0.0027	23	c.207 others(42): Show c.207+10607_207+10608insGTGTGTGTGTGTGTGTGTGTGTT	SPRED1	ENSG00000166068.13	transcript	ENST00000299084.9	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr15	TogoVar
SPRED2_chr2_65305851_65437599	65342367	T T	TTATGTAT others(16): Show TTATGTATGTATATTTTGTATACG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0001 a0001c0001t0009g0001	1	276	0.0036	23	c.204 others(40): Show c.204+2351_204+2352insCGTATACAAAATATACATACATA	SPRED2	ENSG00000198369.10	transcript	ENST00000356388.9	protein_coding	2/5			chr2	TogoVar
SPRED3_chr19_38383697_38404587	38397903	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0032 a0001c0001t0013g0032	1	360	0.0028	23	c.17 others(34): Show c.1773_*1774insAAAAAAAAAAAAAAAAAAAAAAA	SPRED3	ENSG00000188766.13	transcript	ENST00000691638.1	protein_coding	6/6	1774	INFO_REALIGN_3_PRIME	chr19	TogoVar
SPRR2B_chr1_153065226_153076611	153069533	A A	ACAATACA others(16): Show ACAATACAAATTTCAAAATACAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG00597.hp1 others(116): Show HG00438.hp1 HG00558.hp1 HG00597.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG01069.hp2 HG01106.hp2 HG01175.hp1 HG01255.hp1 HG01256.hp2 HG01258.hp2 HG01433.hp1 HG01496.hp1 HG01943.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02135.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02293.hp2 HG02523.hp2 HG02602.hp2 HG02647.hp2 HG02683.hp1 HG02738.hp2 HG03688.hp2 HG03704.hp2 HG03942.hp1 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18990.hp2 NA18993.hp1 NA18995.hp2 NA18999.hp2 NA19004.hp1 NA19006.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19012.hp2 NA19054.hp1 NA19057.hp1 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19076.hp2 NA19077.hp1 NA19080.hp2 NA19081.hp2 NA19083.hp2 NA19084.hp2 NA19086.hp2 NA19087.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0002 a0001c0001t0003g0004 a0001c0001t0001g0002 a0001c0001t0003g0004	119	430	0.2767	23	c.10 others(34): Show c.1087_*1088insATTGTATTTTGAAATTTGTATTG	SPRR2B	ENSG00000196805.8	transcript	ENST00000368755.3	protein_coding		692		chr1	TogoVar
SPRTN_chr1_231333293_231360023	231357145	T T	TCCTGGTC others(16): Show TCCTGGTCCACATGGTGAAACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG02451.hp1 HG02723.hp2 others(5): Show HG01106.hp2 HG02451.hp1 HG02723.hp2 HG02886.hp1 HG03098.hp2 HG03130.hp1 HG03540.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0007 a0002c0002t0002g0007	8	352	0.0227	23	c.37 others(34): Show c.3784_*3785insCCTGGTCCACATGGTGAAACCCC	SPRTN	ENSG00000010072.16	transcript	ENST00000295050.12	protein_coding		2123		chr1	TogoVar
SPRY3_chrX_155607586_155787459	155616100	G G	GTCTCTCT others(16): Show GTCTCTCTCCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA18945.hp1 NA19011.hp1 others(1): Show HG02015.hp1 NA18945.hp1 NA19011.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0032 a0001c0001t0033 others(1): Show a0001c0001t0002 a0001c0001t0032 a0001c0001t0033 a0001c0001t0066	a0001c0001t0002g0222 a0001c0001t0032g0220 a0001c0001t0033g0219 others(1): Show a0001c0001t0002g0222 a0001c0001t0032g0220 a0001c0001t0033g0219 a0001c0001t0066g0221	4	231	0.0173	23	c.-28 others(42): Show c.-282+3461_-282+3462insCTCTCTCTCTCTCTCTCTCTCTC	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155616130	C C	CTCTCTCT others(16): Show CTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00738.hp1 HG01071.hp2 others(34): Show HG00544.hp1 HG00738.hp1 HG01071.hp2 HG01074.hp1 HG01167.hp1 HG01192.hp1 HG01496.hp1 HG01928.hp1 HG01943.hp1 HG01993.hp1 HG02056.hp1 HG02083.hp1 HG02132.hp1 HG02148.hp1 HG02155.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02559.hp2 HG03490.hp1 HG03834.hp2 HG03942.hp1 NA18953.hp1 NA18957.hp1 NA18962.hp1 NA18984.hp1 NA18986.hp1 NA19000.hp1 NA19012.hp1 NA19062.hp1 NA19066.hp1 NA19070.hp1 NA19072.hp1 NA19082.hp1 NA19090.hp2 NA20752.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0017 a0001c0001t0022 a0001c0001t0025 a0001c0001t0027 a0001c0001t0034 a0001c0001t0050 a0001c0001t0056 a0001c0001t0057 a0001c0001t0060 a0001c0001t0061 a0001c0001t0105 a0001c0001t0112 a0001c0001t0119 a0001c0001t0127 a0001c0001t0130 a0001c0001t0133 a0001c0001t0149 a0001c0002t0026 a0001c0002t0139 a0001c0002t0140	a0001c0001t0001g0152 a0001c0001t0001g0164 a0001c0001t0002g0170 others(34): Show a0001c0001t0001g0152 a0001c0001t0001g0164 a0001c0001t0002g0170 a0001c0001t0002g0211 a0001c0001t0004g0145 a0001c0001t0004g0156 a0001c0001t0005g0161 a0001c0001t0009g0150 a0001c0001t0009g0157 a0001c0001t0009g0165 a0001c0001t0009g0169 a0001c0001t0010g0149 a0001c0001t0011g0146 a0001c0001t0011g0148 a0001c0001t0014g0158 a0001c0001t0014g0160 a0001c0001t0017g0171 a0001c0001t0022g0162 a0001c0001t0022g0224 a0001c0001t0025g0163 a0001c0001t0027g0172 a0001c0001t0034g0166 a0001c0001t0050g0155 a0001c0001t0056g0153 a0001c0001t0057g0159 a0001c0001t0060g0223 a0001c0001t0061g0143 a0001c0001t0105g0147 a0001c0001t0112g0213 a0001c0001t0119g0173 a0001c0001t0127g0144 a0001c0001t0130g0154 a0001c0001t0133g0168 a0001c0001t0149g0151 a0001c0002t0026g0167 a0001c0002t0139g0212 a0001c0002t0140g0142	37	231	0.1602	23	c.-28 others(42): Show c.-282+3483_-282+3484insTCTCTCTCTCTCTCTCTCTCTCT	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2			chrX	TogoVar
SPRY3_chrX_155607586_155787459	155688794	C C	CTAGCTAT others(16): Show CTAGCTATTAAGCCCAGCATGCCT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03195.hp2 HG03579.hp1 others(1): Show HG02451.hp1 HG03195.hp2 HG03579.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0036 a0001c0001t0037 others(1): Show a0001c0001t0007 a0001c0001t0036 a0001c0001t0037 a0001c0001t0039	a0001c0001t0007g0099 a0001c0001t0036g0098 a0001c0001t0037g0097 others(1): Show a0001c0001t0007g0099 a0001c0001t0036g0098 a0001c0001t0037g0097 a0001c0001t0039g0093	4	231	0.0173	23	c.-28 others(44): Show c.-282+76152_-282+76153insATTAAGCCCAGCATGCCTTAGCT	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRYD3_chr12_53059316_53084390	53065765	T T	TCAGGAAC others(16): Show TCAGGAACTGGGTGCCTGGCCCAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0057 a0001c0001t0016g0057	1	404	0.0025	23	c.44 others(30): Show c.44_*66dupCTGGGCCAGGCACCCAGTTCCTG	SPRYD3	ENSG00000167778.9	transcript	ENST00000301463.9	protein_coding	11/11	66		chr12	TogoVar
SPTA1_chr1_158605704_158691715	158659595	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18991.hp1 NA18991.hp2 others(1): Show NA18943.hp2 NA18991.hp1 NA18991.hp2 NA19000.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0003c0092 a0001c0001 a0003c0005 a0003c0092	a0001c0001t0002 a0001c0001t0043 a0003c0005t0021 others(1): Show a0001c0001t0002 a0001c0001t0043 a0003c0005t0021 a0003c0092t0010	a0001c0001t0002g0125 a0001c0001t0043g0145 a0003c0005t0021g0061 others(1): Show a0001c0001t0002g0125 a0001c0001t0043g0145 a0003c0005t0021g0061 a0003c0092t0010g0079	4	370	0.0108	23	c.258 others(42): Show c.2587+1669_2587+1691dupAAAAAAAAAAAAAAAAAAAAAAA	SPTA1	ENSG00000163554.15	transcript	ENST00000643759.2	protein_coding	18/51			chr1	TogoVar
SPTAN1_chr9_128547587_128638662	128561662	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	312	0.0032	23	c.-3- others(38): Show c.-3-5072_-3-5050dupAAAAAAAAAAAAAAAAAAAAAAA	SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	1/56		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPTAN1_chr9_128547587_128638662	128574972	G G	GCTCTCCA others(16): Show GCTCTCCAGCTCTCCTAGCTGCTC	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0114 a0001c0001t0001g0115	2	312	0.0064	23	c.504 others(38): Show c.504+157_504+158insCTCTCCAGCTCTCCTAGCTGCTC	SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	4/56			chr9	TogoVar
SPTBN1_chr2_54451327_54676446	54576055	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0007 a0001c0029t0007	a0001c0029t0007g0290 a0001c0029t0007g0290	1	370	0.0027	23	c.149 others(42): Show c.149-23020_149-23019insTTTTTTTTTTTTTTTTTTTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54581577	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0304 a0001c0003t0003g0304	1	370	0.0027	23	c.149 others(42): Show c.149-17514_149-17492dupTTTTTTTTTTTTTTTTTTTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54594833	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0011 a0001c0005t0011	a0001c0005t0011g0051 a0001c0005t0011g0051	1	370	0.0027	23	c.149 others(40): Show c.149-4241_149-4240insTTTTTTTTTTTTTTTTTTTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTB_chr14_64741283_64884907	64744771	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0110 a0002c0003t0005g0110	1	268	0.0037	23	c.45 others(34): Show c.4534_*4535insAAAAAAAAAAAAAAAAAAAAAAA	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding		1511		chr14	TogoVar
SPTB_chr14_64741283_64884907	64751927	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0005 a0005	a0005c0036 a0005c0036	a0005c0036t0017 a0005c0036t0017	a0005c0036t0017g0209 a0005c0036t0017g0209	1	268	0.0037	23	c.660 others(42): Show c.6602+1609_6602+1610insTTTTTTTTTTTTTTTTTTTTTTT	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	33/35			chr14	TogoVar
SPTY2D1_chr11_18601403_18639342	18622086	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00609.hp1 HG00735.hp2 others(14): Show HG00544.hp1 HG00609.hp1 HG00735.hp2 HG02040.hp2 HG02155.hp1 HG02886.hp1 HG03195.hp1 HG03834.hp2 HG04228.hp1 NA18947.hp1 NA18957.hp1 NA18973.hp2 NA18979.hp1 NA18990.hp1 NA18998.hp1 NA19070.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 others(13): Show a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0338 a0002c0003t0001g0014 a0002c0003t0001g0048 a0002c0003t0001g0053 a0002c0003t0001g0062 a0002c0003t0001g0063 a0002c0003t0001g0069 a0002c0003t0001g0086 a0002c0003t0001g0089 a0002c0003t0001g0091 a0002c0003t0001g0092 a0002c0003t0001g0093 a0002c0003t0001g0096	17	444	0.0383	23	c.61- others(38): Show c.61-5098_61-5097insTTTTTTTTTTTTTTTTTTTTTTT	SPTY2D1	ENSG00000179119.15	transcript	ENST00000336349.6	protein_coding	1/5			chr11	TogoVar
SPTY2D1_chr11_18601403_18639342	18622091	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA19068.hp1 NA18945.hp1 NA19068.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0054 a0002c0003t0001g0055 a0002c0003t0001g0054 a0002c0003t0001g0055	2	444	0.0045	23	c.61- others(38): Show c.61-5103_61-5102insGTTTTTTTTTTTTTTTTTTTTTT	SPTY2D1	ENSG00000179119.15	transcript	ENST00000336349.6	protein_coding	1/5			chr11	TogoVar
SPTY2D1_chr11_18601403_18639342	18622100	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0365 a0001c0001t0001g0365	1	444	0.0023	23	c.61- others(38): Show c.61-5112_61-5111insGTTTTTTTTTTTTTTTTTTTTTT	SPTY2D1	ENSG00000179119.15	transcript	ENST00000336349.6	protein_coding	1/5			chr11	TogoVar
SRBD1_chr2_45383680_45616267	45571517	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG04184.hp2 HG01433.hp2 HG04184.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0276 a0003c0003t0001g0308 a0003c0003t0001g0276 a0003c0003t0001g0308	2	358	0.0056	23	c.130 others(42): Show c.1305+1667_1305+1689dupTTTTTTTTTTTTTTTTTTTTTTT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	9/20			chr2	TogoVar
SRCIN1_chr17_38525031_38610952	38566866	T T	TTCCTTCC others(16): Show TTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	261	0.0038	23	c.345 others(40): Show c.345+1344_345+1345insGGAAGGAAGGAAGGAAGGAAGGA	SRCIN1	ENSG00000277363.5	transcript	ENST00000617146.5	protein_coding	3/18			chr17	TogoVar
SREBF1_chr17_17806334_17841986	17829205	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03579.hp2 HG03471.hp2 HG03579.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0011 a0006c0009t0011	a0006c0009t0011g0145 a0006c0009t0011g0146 a0006c0009t0011g0145 a0006c0009t0011g0146	2	352	0.0057	23	c.91+ others(38): Show c.91+7521_91+7522insATATATATTTTTTTTTTTTTTTT	SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding	1/18			chr17	TogoVar
SREK1IP1_chr5_64713148_64773691	64727553	A A	ATATATAT others(16): Show ATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0061 a0001c0003t0014g0061	1	342	0.0029	23	c.278 others(38): Show c.278+553_278+554insAAAAAAAAAAATATATATATATA	SREK1IP1	ENSG00000153006.16	transcript	ENST00000513458.9	protein_coding	4/4			chr5	TogoVar
SREK1IP1_chr5_64713148_64773691	64727553	A A	ATATATAT others(16): Show ATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02572.hp1 HG02145.hp1 HG02572.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0014 a0001c0003t0010 a0001c0003t0014	a0001c0003t0010g0053 a0001c0003t0014g0064 a0001c0003t0010g0053 a0001c0003t0014g0064	2	342	0.0059	23	c.278 others(38): Show c.278+553_278+554insAAAAAAAAAAAAATATATATATA	SREK1IP1	ENSG00000153006.16	transcript	ENST00000513458.9	protein_coding	4/4			chr5	TogoVar
SREK1IP1_chr5_64713148_64773691	64731521	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03195.hp1 HG02818.hp1 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0031 a0001c0003t0005g0040 a0001c0003t0005g0031 a0001c0003t0005g0040	2	342	0.0059	23	c.206 others(40): Show c.206-3343_206-3342insTTTTTTTTTTTTTTTTTTTTTTT	SREK1IP1	ENSG00000153006.16	transcript	ENST00000513458.9	protein_coding	3/4			chr5	TogoVar
SRF_chr6_43166269_43186506	43177228	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0056 a0001c0001t0007g0056	1	356	0.0028	23	c.116 others(40): Show c.1162+578_1162+579insTTTTTTTTTTTTTTTTTTTTTTT	SRF	ENSG00000112658.8	transcript	ENST00000265354.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
SRGAP1_chr12_63839700_64167217	63913454	C C	CTTATAAT others(16): Show CTTATAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0056 a0001c0002t0056	a0001c0002t0056g0061 a0001c0002t0056g0061	1	170	0.0059	23	c.67+ others(40): Show c.67+68571_67+68572insTTATAATATATATATATATATAT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21			chr12	TogoVar
SRGAP1_chr12_63839700_64167217	64044674	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0129 a0001c0002t0014g0129	1	170	0.0059	23	c.801 others(40): Show c.801+1102_801+1124dupTTTTTTTTTTTTTTTTTTTTTTT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP2B_chr1_144882288_145100328	144882394	T T	TGGGGCAA others(16): Show TGGGGCAAAAAGCCGCGGCGGCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01109.hp2 HG02602.hp1 others(1): Show HG01099.hp2 HG01109.hp2 HG02602.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0002g0002 others(1): Show a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0002g0002 a0001c0001t0002g0035	4	56	0.0714	23	c.97 others(34): Show c.9765_*9766insCCGCCGCCGCGGCTTTTTGCCCC	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding		4893		chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121331144	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	274	0.0037	23	c.423 others(40): Show c.423+6511_423+6533dupAAAAAAAAAAAAAAAAAAAAAAA	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121396304	C C	CCCGCCGC others(16): Show CCCGCCGCGGCTTTTTACCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0096 a0002c0002t0002g0096	1	274	0.0037	23	c.84 others(34): Show c.8449_*8450insCCGCCGCGGCTTTTTACCCCCCG	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding		3431		chr1	TogoVar
SRGAP3_chr3_8975591_9254646	9015219	T T	TCTTGCAC others(16): Show TCTTGCACCATGCACAGGCTGGGA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02451.hp2 HG02647.hp1 others(6): Show HG02145.hp1 HG02451.hp2 HG02647.hp1 HG02809.hp1 HG02818.hp2 HG02922.hp1 HG03130.hp1 HG03453.hp2 HG03516.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0019 a0001c0001 a0006c0019	a0001c0001t0002 a0001c0001t0004 a0001c0001t0015 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0015 a0001c0001t0017 a0001c0001t0042 a0001c0001t0052 a0006c0019t0017	a0001c0001t0002g0016 a0001c0001t0002g0155 a0001c0001t0004g0036 others(6): Show a0001c0001t0002g0016 a0001c0001t0002g0155 a0001c0001t0004g0036 a0001c0001t0015g0041 a0001c0001t0015g0154 a0001c0001t0017g0098 a0001c0001t0042g0185 a0001c0001t0052g0188 a0006c0019t0017g0089	9	228	0.0395	23	c.181 others(40): Show c.1813+355_1813+377dupTCCCAGCCTGTGCATGGTGCAAG	SRGAP3	ENSG00000196220.17	transcript	ENST00000383836.8	protein_coding	15/21			chr3	TogoVar
SRMS_chr20_63533489_63552749	63535771	C C	CCCTCACC others(16): Show CCCTCACCTGGCCTCCCGCCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0020 a0020	a0020c0018 a0020c0018	a0020c0018t0009 a0020c0018t0009	a0020c0018t0009g0057 a0020c0018t0009g0057	1	356	0.0028	23	c.50 others(34): Show c.5024_*5046dupAGGGGGCGGGAGGCCAGGTGAGG	SRMS	ENSG00000125508.4	transcript	ENST00000217188.2	protein_coding		2717		chr20	TogoVar

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Search Results (Total: 8696 hits)