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	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
FSTL1_chr3_120387293_120455992	120413800	C C	CCTCCCTC others(29): Show CCTCCCTCTCCCCCCTCCCTCTCCCTCTCCCCACGGT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03831.hp2 HG01109.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0026 a0001c0001t0005 a0001c0001t0026	a0001c0001t0005g0115 a0001c0001t0026g0184 a0001c0001t0005g0115 a0001c0001t0026g0184	2	332	0.0060	36	c.169 others(53): Show c.169-1818_169-1817insACCGTGGGGAGAGGGAGAGGGAGGGGGG AGAGGGAG		FSTL1	ENSG00000163430.13	transcript	ENST00000295633.8	protein_coding	3/10						chr3	TogoVar
FSTL4_chr5_133191455_133617541	133375291	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01069.hp2 HG02155.hp2 others(5): Show HG00438.hp2 HG01069.hp2 HG02155.hp2 HG03704.hp2 NA18747.hp2 NA18970.hp2 NA18988.hp1 NA20752.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0009 a0003c0004 others(1): Show a0001c0001 a0001c0009 a0003c0004 a0004c0010	a0001c0001t0001 a0001c0001t0003 a0001c0009t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0009t0001 a0003c0004t0002 a0004c0010t0004	a0001c0001t0001g0070 a0001c0001t0001g0091 a0001c0001t0001g0114 others(5): Show a0001c0001t0001g0070 a0001c0001t0001g0091 a0001c0001t0001g0114 a0001c0001t0001g0135 a0001c0001t0003g0149 a0001c0009t0001g0079 a0003c0004t0002g0125 a0004c0010t0004g0088	8	176	0.0455	36	c.409 others(55): Show c.409+25446_409+25447insATATATATATATATATATATATATAT ATATATATAT		FSTL4	ENSG00000053108.18	transcript	ENST00000265342.12	protein_coding	4/15						chr5	TogoVar
FSTL4_chr5_133191455_133617541	133517447	A A	AAAAAAAA others(29): Show AAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	176	0.0057	36	c.160 others(55): Show c.160+49738_160+49739insATATATATATATATATATATATATAT TTTTTTTTTT		FSTL4	ENSG00000053108.18	transcript	ENST00000265342.12	protein_coding	3/15						chr5	TogoVar
FSTL4_chr5_133191455_133617541	133517447	A A	AAAAAAAA others(29): Show AAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 NA19088.hp1 HG01106.hp1 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0002 a0001c0001t0004 a0002c0002t0002	a0001c0001t0004g0016 a0002c0002t0002g0141 a0001c0001t0004g0016 a0002c0002t0002g0141	2	176	0.0114	36	c.160 others(55): Show c.160+49738_160+49739insATATATATATATATATATATATATAT ATTTTTTTTT		FSTL4	ENSG00000053108.18	transcript	ENST00000265342.12	protein_coding	3/15						chr5	TogoVar
FSTL4_chr5_133191455_133617541	133517447	A A	AAAAAATA others(29): Show AAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA20300.hp1 NA18982.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0039 a0001c0001t0003g0102 a0001c0001t0001g0039 a0001c0001t0003g0102	2	176	0.0114	36	c.160 others(55): Show c.160+49738_160+49739insATATATATATATATATATATATATAT ATATATTTTT		FSTL4	ENSG00000053108.18	transcript	ENST00000265342.12	protein_coding	3/15						chr5	TogoVar
FSTL5_chr4_161378897_162169000	161437564	T T	TCAAAAAA others(29): Show TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0057 a0001c0001t0007g0057	1	142	0.0070	36	c.184 others(57): Show c.1841+17439_1841+17440insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTG		FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	15/15						chr4	TogoVar
FSTL5_chr4_161378897_162169000	161437565	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 NA19065.hp2 HG01175.hp2 NA19065.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0005 a0003c0005t0010 a0003c0005t0005 a0003c0005t0010	a0003c0005t0005g0078 a0003c0005t0010g0015 a0003c0005t0005g0078 a0003c0005t0010g0015	2	142	0.0141	36	c.184 others(57): Show c.1841+17438_1841+17439insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT		FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	15/15						chr4	TogoVar
FTCD_chr21_46131779_46160579	46134395	T T	TAGGGTCA others(29): Show TAGGGTCAGGTTTAGGGTCAGGGTCAGGTTTAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0222 a0001c0004t0008g0222	1	230	0.0044	36	c.25 others(47): Show c.2591_*2592insGACCCTAAACCTGACCCTGACCCTAAACCTGACC CT		FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding					2383		chr21	TogoVar
FTCD_chr21_46131779_46160579	46134443	T T	TAGGGTCA others(29): Show TAGGGTCAGGGTCAGGTTTAGGGTCAGGGTCAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0015 a0015	a0015c0023 a0015c0023	a0015c0023t0002 a0015c0023t0002	a0015c0023t0002g0179 a0015c0023t0002g0179	1	230	0.0044	36	c.25 others(47): Show c.2543_*2544insGACCCTGACCCTGACCCTAAACCTGACCCTGACC CT		FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding					2335		chr21	TogoVar
FTCD_chr21_46131779_46160579	46134491	C C	CAGGGTGA others(29): Show CAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 NA20805.hp2 HG01109.hp2 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0044 a0001c0002t0002g0087 a0001c0002t0002g0044 a0001c0002t0002g0087	2	230	0.0087	36	c.24 others(47): Show c.2495_*2496insCACCCTCACCCTGACCCTAAACCTGACCCTCACC CT		FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding					2287		chr21	TogoVar
FTCD_chr21_46131779_46160579	46134501	G G	GTCAGGTT others(29): Show GTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTCAGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 NA19000.hp1 HG03540.hp2 NA19000.hp1	a0001 a0001	a0001c0003 a0001c0010 a0001c0003 a0001c0010	a0001c0003t0002 a0001c0010t0003 a0001c0003t0002 a0001c0010t0003	a0001c0003t0002g0010 a0001c0010t0003g0114 a0001c0003t0002g0010 a0001c0010t0003g0114	2	230	0.0087	36	c.24 others(47): Show c.2485_*2486insACCTGACCCTCACCCTCACCCTGACCCTAAACCT GA		FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding					2277		chr21	TogoVar
FTCD_chr21_46131779_46160579	46134509	G G	GAGGGTGA others(29): Show GAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0140 a0001c0001t0002g0140	1	230	0.0044	36	c.24 others(47): Show c.2477_*2478insGACCCTAAACCTGACCCTCACCCTCACCCTCACC CT		FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding					2269		chr21	TogoVar
FTCD_chr21_46131779_46160579	46134605	C C	CAGGGTCA others(29): Show CAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0217 a0001c0003t0005g0217	1	230	0.0044	36	c.23 others(47): Show c.2381_*2382insCACCCTGACCCTAAACCTGACCCTCACCCTGACC CT		FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding					2173		chr21	TogoVar
FTCD_chr21_46131779_46160579	46134641	G G	GAGGGTGA others(29): Show GAGGGTGAGGGTCAGGTTTAGGGTCAGGGTCAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG02965.hp1 HG03516.hp1 HG00639.hp2 HG02965.hp1 HG03516.hp1	a0001 a0003 a0015 a0001 a0003 a0015	a0001c0004 a0003c0015 a0015c0023 a0001c0004 a0003c0015 a0015c0023	a0001c0004t0002 a0003c0015t0002 a0015c0023t0002 a0001c0004t0002 a0003c0015t0002 a0015c0023t0002	a0001c0004t0002g0178 a0003c0015t0002g0007 a0015c0023t0002g0179 a0001c0004t0002g0178 a0003c0015t0002g0007 a0015c0023t0002g0179	3	230	0.0130	36	c.23 others(47): Show c.2345_*2346insGACCCTGACCCTGACCCTAAACCTGACCCTCACC CT		FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding					2137		chr21	TogoVar
FTCD_chr21_46131779_46160579	46134671	C C	CAGGGTGA others(29): Show CAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0076 a0001c0002t0001g0076	1	230	0.0044	36	c.23 others(47): Show c.2315_*2316insCACCCTCACCCTGACCCTAAACCTGACCCTCACC CT		FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding					2107		chr21	TogoVar
FTHL17_chrX_31066233_31077041	31067559	T T	TATATATA others(29): Show TATATATACACATATATACGTATATATATGTGTGTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 NA19043.hp1 HG00099.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	336	0.0060	36	c.38 others(47): Show c.3842_*3843insGTACACACATATATATACGTATATATGTGTATAT AT		FTHL17	ENSG00000132446.7	transcript	ENST00000359202.5	protein_coding					3673		chrX	TogoVar
FUBP3_chr9_130574577_130643352	130589675	G G	GTGTGTGT others(29): Show GTGTGTGTATGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0104 a0001c0002t0002g0104	1	378	0.0027	36	c.85- others(51): Show c.85-5807_85-5806insGTGTGTATGTGTATATATATATATATATAT ATATAT		FUBP3	ENSG00000107164.17	transcript	ENST00000319725.10	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr9	TogoVar
FUT1_chr19_48743011_48757641	48757635	G G	GGGCTGGG others(29): Show GGGCTGGGGCCTGGAACCCCGGGTCTGAGGGAGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00639.hp1 others(87): Show HG00423.hp2 HG00544.hp1 HG00639.hp1 HG00673.hp2 HG00733.hp2 HG01106.hp1 HG01109.hp1 HG01243.hp2 HG01884.hp1 HG01981.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02135.hp1 HG02165.hp2 HG02523.hp1 HG02630.hp1 HG02922.hp2 HG03017.hp2 HG03139.hp2 HG03209.hp1 HG03579.hp2 HG03688.hp1 HG04184.hp2 HG04228.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18978.hp2 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA18990.hp2 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19043.hp1 NA19054.hp2 NA19057.hp2 NA19058.hp2 NA19059.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp2 NA19081.hp2 NA19086.hp1 NA19090.hp1 NA19090.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0016 a0001c0001t0030 a0001c0003t0024 a0002c0002t0001 a0002c0002t0008	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0015 others(21): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0025 a0001c0001t0001g0051 a0001c0001t0001g0059 a0001c0001t0002g0002 a0001c0001t0002g0011 a0001c0001t0002g0018 a0001c0001t0002g0036 a0001c0001t0004g0008 a0001c0001t0004g0014 a0001c0001t0008g0017 a0001c0001t0008g0074 a0001c0001t0010g0013 a0001c0001t0012g0065 a0001c0001t0016g0022 a0001c0001t0030g0089 a0001c0003t0024g0063 a0002c0002t0001g0003 a0002c0002t0001g0006 a0002c0002t0001g0021 a0002c0002t0001g0085 a0002c0002t0008g0080	90	438	0.2055	36	c.-51 others(47): Show c.-5184_-5149dupTCTCCTCCCTCAGACCCGGGGTTCCAGGCCCCAG CC		FUT1	ENSG00000174951.12	transcript	ENST00000645652.2	protein_coding					4995		chr19	TogoVar
FUT1_chr19_48743011_48757641	48757635	G G	GGGCTGGG others(29): Show GGGCTGGGGCCTGGACCCCTGGGTCTGAGGGAGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	438	0.0023	36	c.-51 others(47): Show c.-5149_-5148insTCTCCTCCCTCAGACCCAGGGGTCCAGGCCCCAG CC		FUT1	ENSG00000174951.12	transcript	ENST00000645652.2	protein_coding					4995		chr19	TogoVar
FUT8_chr14_65407730_65749121	65580070	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	374	0.0027	36	c.203 others(55): Show c.203+18324_203+18325insTATATATATATATATATATATATATA TATATATATA		FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65677162	A A	ACGTGTGT others(29): Show ACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0216 a0001c0001t0009g0216	1	374	0.0027	36	c.835 others(53): Show c.835+7682_835+7683insCGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTG		FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	7/10						chr14	TogoVar
FUT8_chr14_65407730_65749121	65716849	G G	GGGGCGGC others(29): Show GGGGCGGCCGGGCAGAGGCGCTCCTCACCTCCCAGAA	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18988.hp1 NA18978.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0206 a0001c0001t0002g0209 a0001c0001t0002g0206 a0001c0001t0002g0209	2	374	0.0054	36	c.836 others(53): Show c.836-4891_836-4890insAGGGCGGCCGGGCAGAGGCGCTCCTCAC CTCCCAGA		FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT9_chr6_96010974_96220612	96106213	C C	CCCTTCCT others(29): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0275 a0001c0001t0028g0275	1	320	0.0031	36	c.-97 others(53): Show c.-97-7793_-97-7792insCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTC		FUT9	ENSG00000172461.11	transcript	ENST00000302103.6	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr6	TogoVar
FXR2_chr17_7586230_7619897	7609986	A A	ATACATGT others(29): Show ATACATGTATATGTATACATATATATACATGTATATG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0069 a0001c0002t0001g0069	1	426	0.0024	36	c.82- others(51): Show c.82-3838_82-3837insCATATACATGTATATATATGTATACATATA CATGTA		FXR2	ENSG00000129245.13	transcript	ENST00000250113.12	protein_coding	1/16						chr17	TogoVar
FXYD1_chr19_35133824_35148109	35147505	A A	AGTGGAGA others(29): Show AGTGGAGAAAAGTGAATCCAGAGACACACACACATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	408	0.0025	36	c.46 others(47): Show c.4618_*4619insGTGGAGAAAAGTGAATCCAGAGACACACACACAT TT		FXYD1	ENSG00000266964.6	transcript	ENST00000351325.9	protein_coding					4397		chr19	TogoVar
FXYD3_chr19_35110823_35129324	35119618	G G	GGGACCCC others(29): Show GGGACCCCCCCCCCCCCAATCCCCCCCCCCACACCCA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0151 a0001c0001t0002g0151	1	414	0.0024	36	c.40+ others(49): Show c.40+202_40+203insGGACCCCCCCCCCCCCAATCCCCCCCCCCACA CCCA		FXYD3	ENSG00000089356.19	transcript	ENST00000604404.6	protein_coding	3/8						chr19	TogoVar
FXYD5_chr19_35149735_35174881	35161221	A A	AACACACA others(29): Show AACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02886.hp1 HG03942.hp1 HG01361.hp2 HG02886.hp1 HG03942.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0003g0119 a0001c0001t0003g0127 a0002c0002t0001g0092 a0001c0001t0003g0119 a0001c0001t0003g0127 a0002c0002t0001g0092	3	462	0.0065	36	c.292 others(51): Show c.292+447_292+448insCACACACACACACACACACACACACACACA CACACA		FXYD5	ENSG00000089327.15	transcript	ENST00000392219.7	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr19	TogoVar
FYB2_chr1_56713789_56824404	56757675	T T	TTTCCTTC others(29): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0363 a0001c0001t0001g0363	1	380	0.0026	36	c.109 others(55): Show c.1098+1040_1098+1041insGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAA		FYB2	ENSG00000187889.13	transcript	ENST00000343433.7	protein_coding	6/19						chr1	TogoVar
FYB2_chr1_56713789_56824404	56757687	C C	CTTCCTTC others(29): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG03225.hp1 HG03710.hp2 others(1): Show HG01934.hp2 HG03225.hp1 HG03710.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0073 a0001c0001t0001g0211 others(1): Show a0001c0001t0001g0026 a0001c0001t0001g0073 a0001c0001t0001g0211 a0001c0001t0001g0336	4	380	0.0105	36	c.109 others(55): Show c.1098+1028_1098+1029insAGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAA		FYB2	ENSG00000187889.13	transcript	ENST00000343433.7	protein_coding	6/19						chr1	TogoVar
FYB2_chr1_56713789_56824404	56757687	C C	CTTCCTTC others(29): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00673.hp2 HG01928.hp1 HG00609.hp2 HG00673.hp2 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0153 a0001c0001t0001g0285 a0001c0001t0001g0142 a0001c0001t0001g0153 a0001c0001t0001g0285	3	380	0.0079	36	c.109 others(55): Show c.1098+1028_1098+1029insAGAAAGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAA		FYB2	ENSG00000187889.13	transcript	ENST00000343433.7	protein_coding	6/19						chr1	TogoVar
FYB2_chr1_56713789_56824404	56757687	C C	CTTCCTTC others(29): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	380	0.0026	36	c.109 others(55): Show c.1098+1028_1098+1029insAGAAAGAAAGAAGGAAGGAAGGAAGG AAGGAAGGAA		FYB2	ENSG00000187889.13	transcript	ENST00000343433.7	protein_coding	6/19						chr1	TogoVar
FYB2_chr1_56713789_56824404	56757687	C C	CTTCCTTC others(29): Show CTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	380	0.0026	36	c.109 others(55): Show c.1098+1028_1098+1029insAGAAAGAAAGAAAGAAAGAAAGAAAG AAGGAAGGAA		FYB2	ENSG00000187889.13	transcript	ENST00000343433.7	protein_coding	6/19						chr1	TogoVar
FYTTD1_chr3_197744883_197792596	197762288	T T	TTTTATTT others(29): Show TTTTATTTTATTTGTTTTTATTTGTTTATTTGTTTTA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02615.hp2 HG02647.hp1 others(2): Show HG01891.hp1 HG02615.hp2 HG02647.hp1 NA19043.hp1 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0015 a0002c0002t0029 a0002c0002t0002 a0002c0002t0015 a0002c0002t0029	a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0027 others(2): Show a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0027 a0002c0002t0015g0026 a0002c0002t0029g0025	5	256	0.0195	36	c.235 others(53): Show c.235+5734_235+5735insATTTTATTTGTTTTTATTTGTTTATTTG TTTTATTT		FYTTD1	ENSG00000122068.13	transcript	ENST00000241502.9	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr3	TogoVar
FYTTD1_chr3_197744883_197792596	197774675	T T	TACCATCC others(29): Show TACCATCCTGAGCAGCATAGCTCGATCGCCAGTGCAC	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA19003.hp2 HG02040.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0175 a0001c0001t0001g0150 a0001c0001t0001g0175	2	256	0.0078	36	c.656 others(51): Show c.656+470_656+505dupTCCTGAGCAGCATAGCTCGATCGCCAGTGC ACACCA		FYTTD1	ENSG00000122068.13	transcript	ENST00000241502.9	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr3	TogoVar
FYTTD1_chr3_197744883_197792596	197774680	T T	TCCTGAGC others(29): Show TCCTGAGCAGCATAGCTCGATCGCCAGTGCACACCAG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01433.hp2 HG02451.hp2 others(6): Show HG00423.hp1 HG01433.hp2 HG02451.hp2 HG06807.hp2 NA18906.hp1 NA18946.hp2 NA19003.hp1 NA19030.hp1 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0026 a0002c0002t0038 others(1): Show a0002c0002t0005 a0002c0002t0026 a0002c0002t0038 a0002c0002t0053	a0002c0002t0005g0077 a0002c0002t0005g0078 a0002c0002t0005g0079 others(6): Show a0002c0002t0005g0077 a0002c0002t0005g0078 a0002c0002t0005g0079 a0002c0002t0005g0081 a0002c0002t0005g0082 a0002c0002t0005g0083 a0002c0002t0026g0080 a0002c0002t0038g0084 a0002c0002t0053g0076	9	256	0.0352	36	c.656 others(51): Show c.656+527_656+562dupCGCCAGTGCACACCAGCCTGAGCAGCATAG CTCGAT		FYTTD1	ENSG00000122068.13	transcript	ENST00000241502.9	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr3	TogoVar
FYTTD1_chr3_197744883_197792596	197792577	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02132.hp1 NA18522.hp2 others(2): Show HG02040.hp2 HG02132.hp1 NA18522.hp2 NA19010.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0001 a0001c0001t0004 a0001c0001t0006	a0001c0001t0001g0108 a0001c0001t0001g0150 a0001c0001t0004g0118 others(2): Show a0001c0001t0001g0108 a0001c0001t0001g0150 a0001c0001t0004g0118 a0001c0001t0004g0157 a0001c0001t0006g0111	5	256	0.0195	36	c.10 others(49): Show c.10668_*10669insTATATATATATATATATATATATATATATATA TATA		FYTTD1	ENSG00000122068.13	transcript	ENST00000241502.9	protein_coding					4982		chr3	TogoVar
FZD7_chr2_202028855_202043441	202035079	G G	GGGCCCCC others(29): Show GGGCCCCCGGGGGGGCAGGGGACCCCCTGACTAGCGC	stop_gained others(1): Show stop_gained conservative_inframe_insertion	HIGH	HG03704.hp1 HG03704.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0000 a0003c0009t0001g0000	1	420	0.0024	36	c.432 others(43): Show c.432_433insGGCCCCCGGGGGGGCAGGGGACCCCCTGACTAGCGC	p.Glu others(49): Show p.Glu144_Arg145insGlyProArgGlyGlyArgGlyProProAspTe rArg	FZD7	ENSG00000155760.3	transcript	ENST00000286201.3	protein_coding	1/1	1226/4587	433/1725	145/574			chr2	TogoVar
FZD7_chr2_202028855_202043441	202040052	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0000 a0001c0001t0004g0000	1	420	0.0024	36	c.36 others(47): Show c.3680_*3681insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT		FZD7	ENSG00000155760.3	transcript	ENST00000286201.3	protein_coding					1612		chr2	TogoVar
FZR1_chr19_3501311_3543334	3529697	T T	TGAGCGGA others(29): Show TGAGCGGATGGGAGAGCGGATGGGAGAGCGGATGGGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03098.hp2 HG03471.hp2 HG02280.hp2 HG03098.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0032 a0001c0001t0020 a0001c0001t0032	a0001c0001t0020g0040 a0001c0001t0020g0237 a0001c0001t0032g0052 a0001c0001t0020g0040 a0001c0001t0020g0237 a0001c0001t0032g0052	3	314	0.0096	36	c.655 others(53): Show c.655-1068_655-1067insCGGATGGGAGAGCGGATGGGAGAGCGGA TGGGAGAG		FZR1	ENSG00000105325.15	transcript	ENST00000441788.7	protein_coding	7/13					INFO_REALIGN_3_PRIME	chr19	TogoVar
FZR1_chr19_3501311_3543334	3529697	T T	TGAGCGGA others(29): Show TGAGCGGATGGTTGAGCGGATGGGAGAGCGGATGGGA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0166 a0001c0001t0004g0166	1	314	0.0032	36	c.655 others(53): Show c.655-1085_655-1084insTTGAGCGGATGGGAGAGCGGATGGGAGA GCGGATGG		FZR1	ENSG00000105325.15	transcript	ENST00000441788.7	protein_coding	7/13					INFO_REALIGN_3_PRIME	chr19	TogoVar
G2E3_chr14_30554158_30625064	30624582	C C	CCGAGGTC others(29): Show CCGAGGTCCTGTCCACCATGAATTTCTGCAGTAACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	356	0.0028	36	c.80 others(47): Show c.8048_*8049insCGAGGTCCTGTCCACCATGAATTTCTGCAGTAAC CT		G2E3	ENSG00000092140.16	transcript	ENST00000206595.11	protein_coding					4519		chr14	TogoVar
G3BP2_chr4_75637786_75678411	75643295	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01243.hp2 HG01255.hp2 HG02622.hp1 others(1): Show HG01243.hp2 HG01255.hp2 HG02622.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0027 a0001c0001t0025 a0001c0001t0027	a0001c0001t0025g0068 a0001c0001t0025g0080 a0001c0001t0027g0094 others(1): Show a0001c0001t0025g0068 a0001c0001t0025g0080 a0001c0001t0027g0094 a0001c0001t0027g0100	4	330	0.0121	36	c.21 others(47): Show c.2134_*2135insTATATATATATATATATATATATATATATATATA TA		G3BP2	ENSG00000138757.15	transcript	ENST00000359707.9	protein_coding	12/12				2134		chr4	TogoVar
GAB1_chr4_143331876_143479565	143373864	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG04204.hp2 HG03453.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0030 a0001c0001t0004 a0001c0001t0030	a0001c0001t0004g0052 a0001c0001t0030g0019 a0001c0001t0004g0052 a0001c0001t0030g0019	2	194	0.0103	36	c.72+ others(53): Show c.72+36607_72+36608insTATATATATATATATATATATATATATA TATATATA		GAB1	ENSG00000109458.10	transcript	ENST00000262994.9	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr4	TogoVar
GAB1_chr4_143331876_143479565	143373868	A A	AATAAATA others(29): Show AATAAATAAATAAATAAATAAATAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02970.hp2 HG03139.hp2 HG02109.hp1 HG02970.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0063 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0063	3	194	0.0155	36	c.72+ others(53): Show c.72+36611_72+36612insAATAAATAAATAAATAAATAAATATATA TATATATA		GAB1	ENSG00000109458.10	transcript	ENST00000262994.9	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr4	TogoVar
GAB1_chr4_143331876_143479565	143373868	A A	AATAAATA others(29): Show AATAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03834.hp2 HG03942.hp2 HG03209.hp2 HG03834.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0007 a0001c0001t0033 a0001c0004t0034 a0001c0001t0007 a0001c0001t0033 a0001c0004t0034	a0001c0001t0007g0005 a0001c0001t0033g0006 a0001c0004t0034g0075 a0001c0001t0007g0005 a0001c0001t0033g0006 a0001c0004t0034g0075	3	194	0.0155	36	c.72+ others(53): Show c.72+36611_72+36612insAATATATATATATATATATATATATATA TATATATA		GAB1	ENSG00000109458.10	transcript	ENST00000262994.9	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr4	TogoVar
GABBR2_chr9_98283109_98713935	98393157	C C	CCCATCCA others(29): Show CCCATCCATCCATCCATCCATCCATCCATCCATCCAT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0157 a0001c0002t0001g0157	1	164	0.0061	36	c.137 others(55): Show c.1378+1017_1378+1018insATGGATGGATGGATGGATGGATGGAT GGATGGATGG		GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	9/18						chr9	TogoVar
GABBR2_chr9_98283109_98713935	98436286	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATCCATAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0006 a0002c0004t0006	a0002c0004t0006g0112 a0002c0004t0006g0112	1	164	0.0061	36	c.123 others(57): Show c.1236+17694_1236+17695insTTATGGATATATATATATATATAT ATATATATATAT		GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	7/18						chr9	TogoVar
GABBR2_chr9_98283109_98713935	98436288	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATCCATAA	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0155 a0001c0002t0005g0155	1	164	0.0061	36	c.123 others(57): Show c.1236+17692_1236+17693insTTATGGATATATATATATATATAT ATATATATATAT		GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	7/18						chr9	TogoVar
GABBR2_chr9_98283109_98713935	98447063	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0133 a0001c0002t0008g0133	1	164	0.0061	36	c.123 others(55): Show c.1236+6917_1236+6918insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA		GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	7/18						chr9	TogoVar
GABBR2_chr9_98283109_98713935	98463591	C C	CTCTCGCT others(29): Show CTCTCGCTCTCCGTCTCGCTCTCGCTCTCGCTCTCCG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02135.hp1 NA18967.hp1 HG00597.hp1 HG02135.hp1 NA18967.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0011 a0001c0002 a0002c0011	a0001c0002t0001 a0001c0002t0003 a0002c0011t0020 a0001c0002t0001 a0001c0002t0003 a0002c0011t0020	a0001c0002t0001g0156 a0001c0002t0003g0026 a0002c0011t0020g0104 a0001c0002t0001g0156 a0001c0002t0003g0026 a0002c0011t0020g0104	3	164	0.0183	36	c.100 others(55): Show c.1000-9410_1000-9375dupCGGAGAGCGAGAGCGAGAGCGAGACG GAGAGCGAGA		GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	6/18						chr9	TogoVar

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Search Results (Total: 8848 hits)