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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
FBRSL1_chr12_132485151_132590188	132563199	C C	CGCCTGGC others(101): Show CGCCTGGCCCCCACAGCCTGCACCCCACGCCTGGCCCCCACAGCCTGCAC CCCACGCCTGGCCCCCACAGCCTGCACCCCACGCCTGGCCCCCACAGCCT GCACCCCAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0016 a0001c0003t0004g0016	1	348	0.0029	108	c.646 others(125): Show c.646-4207_646-4206insCCCCACGCCTGGCCCCCACAGCCTGCAC CCCATGCCTGGCCCCCACAGCCTGCACCCCACGCCTGGCCCCCACAGCCT GCACCCCACGCCTGGCCCCCACAGCCTGCA	FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
FBXL16_chr16_687500_710801	696678	T T	TCCCACCC others(101): Show TCCCACCCCAAAGCCACCATCCGCTCCCACCTCCATAGGGTTGCTGCTGC CCGCCCCTGCCCCCCAGCCCTGTCCCCCCCCACCACCCAGCCTGGGCGCA CACCCCCCC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0106 a0001c0001t0012g0106	1	372	0.0027	108	c.633 others(121): Show c.633+94_633+95insGGGGGGGTGTGCGCCCAGGCTGGGTGGTGGGG GGGGACAGGGCTGGGGGGCAGGGGCGGGCAGCAGCAACCCTATGGAGGTG GGAGCGGATGGTGGCTTTGGGGTGGG	FBXL16	ENSG00000127585.13	transcript	ENST00000397621.6	protein_coding	2/5			chr16	TogoVar
FBXL17_chr5_107854035_108387098	107980664	A A	ATATATAT others(101): Show ATATATATGTATATATATATATATATATGTGTATATATATATATATATAT GTATATATATATATATATATATATATATATATATATATATATATATTTTT TTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0050 a0001c0001t0012g0050	1	244	0.0041	108	c.182 others(129): Show c.1822+40260_1822+40261insAAAAAAAAAAAAAATATATATATA TATATATATATATATATATATATATATATATATACATATATATATATATA TATACACATATATATATATATATATACATATATA	FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	7/8			chr5	TogoVar
FBXO11_chr2_47801920_47911498	47900865	C C	CACACACG others(101): Show CACACACGTGTATATATATACACGTATACACACACGTGTATATACACGTA TACACACACGTGTATATATATACACGTATACACACACGTGTATATATATA CACGTATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	318	0.0031	108	c.232 others(125): Show c.232+4623_232+4624insATATACGTGTATATATATACACGTGTGT GTATACGTGTATATATATACACGTGTGTGTATACGTGTATATACACGTGT GTGTATACGTGTATATATATACACGTGTGT	FBXO11	ENSG00000138081.22	transcript	ENST00000403359.8	protein_coding	1/22			chr2	TogoVar
FER1L5_chr2_96637764_96709883	96659404	T T	TCTTCCTT others(101): Show TCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0109 a0001c0004t0001g0109	1	226	0.0044	108	c.748 others(123): Show c.748-934_748-933insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTT	FER1L5	ENSG00000249715.13	transcript	ENST00000624922.6	protein_coding	9/52		INFO_REALIGN_3_PRIME	chr2	TogoVar
FER1L6_chr8_123846987_124125061	123855977	A A	ATATGAGA others(101): Show ATATGAGATATATGTATATACATATGTGTATGAGATATATGTATATACAT ATGTGTATGAGATATATGTATATACATATGTGTATGAGATATATGTATAT ACATATGTG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0002 a0001c0025t0002	a0001c0025t0002g0048 a0001c0025t0002g0048	1	196	0.0051	108	c.-8+ others(123): Show c.-8+3818_-8+3819insGTATGAGATATATGTATATACATATGTGTA TGAGATATATGTATATACATATGTGTATGAGATATATGTATATACATATG TGTATGAGATATATGTATATACATATGT	FER1L6	ENSG00000214814.7	transcript	ENST00000522917.5	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr8	TogoVar
FER1L6_chr8_123846987_124125061	123856004	A A	ATATGAGA others(101): Show ATATGAGATATATGTATATACATATGTGTATGAGATATATGTATATACAT ATGTGTATGAGATATATGTATATACATATGTGTATGAGATATATGTATAT ACATATGTG	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0140 a0002c0011t0001g0140	1	196	0.0051	108	c.-8+ others(123): Show c.-8+3845_-8+3846insGTATGAGATATATGTATATACATATGTGTA TGAGATATATGTATATACATATGTGTATGAGATATATGTATATACATATG TGTATGAGATATATGTATATACATATGT	FER1L6	ENSG00000214814.7	transcript	ENST00000522917.5	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr8	TogoVar
FER1L6_chr8_123846987_124125061	123856031	A A	ATATGAGA others(101): Show ATATGAGATATATGTATATACATATGTGTATGAGATATATGTATATACAT ATGTGTATGAGATATATGTATATACATATGTGTATGAGATATATGTATAT ACATATGTG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0002 a0001c0033t0002	a0001c0033t0002g0102 a0001c0033t0002g0102	1	196	0.0051	108	c.-8+ others(123): Show c.-8+3950_-8+4057dupATGTGTATGAGATATATGTATATACATATG TGTATGAGATATATGTATATACATATGTGTATGAGATATATGTATATACA TATGTGTATGAGATATATGTATATACAT	FER1L6	ENSG00000214814.7	transcript	ENST00000522917.5	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr8	TogoVar
FGFR4_chr5_177081915_177103144	177096959	C C	CTCTTCCT others(101): Show CTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCC TCCTCCTCT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0158 a0002c0002t0001g0158	1	372	0.0027	108	c.215 others(125): Show c.2153+220_2153+221insTTCCTCCTCCTCCTCTTCCTCCTCCTCC TCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCTTCCTCCTCCTCCTCTTC	FGFR4	ENSG00000160867.15	transcript	ENST00000292408.9	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
FGFR4_chr5_177081915_177103144	177097004	C C	CTCCTCCT others(101): Show CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCT CCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCC TCCTCCTCT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0153 a0002c0002t0001g0153	1	372	0.0027	108	c.215 others(125): Show c.2153+274_2153+275insCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCTTCCTCCTCCTCCTCTTCCTCCTCCTC	FGFR4	ENSG00000160867.15	transcript	ENST00000292408.9	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
FGFR4_chr5_177081915_177103144	177097078	C C	CCTCCTCC others(101): Show CCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTT CTCCTCCTG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02165.hp2 NA18959.hp2 others(1): Show HG01934.hp1 HG02165.hp2 NA18959.hp2 NA18983.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0100 a0002c0002t0001g0043 a0002c0002t0001g0184 a0001c0001t0001g0100 a0002c0002t0001g0043 a0002c0002t0001g0184	4	372	0.0108	108	c.215 others(125): Show c.2154-212_2154-211insCCTCCTCCTCCTCCTCCTCCTCTTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCT CCTCCTCCTCTTCCTCCTTCTCCTCCTGCT	FGFR4	ENSG00000160867.15	transcript	ENST00000292408.9	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
FGFR4_chr5_177081915_177103144	177097078	C C	CCTCCTCC others(101): Show CCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTT CTCCTCCTG	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA19081.hp1 NA18969.hp1 NA19081.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0041 a0002c0002t0001g0041	2	372	0.0054	108	c.215 others(125): Show c.2154-212_2154-211insCCTCCTCTTCCTCCTCCTCCTCTTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCT CCTCCTCCTCTTCCTCCTTCTCCTCCTGCT	FGFR4	ENSG00000160867.15	transcript	ENST00000292408.9	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
FGFR4_chr5_177081915_177103144	177097094	C C	CTCTTCCT others(101): Show CTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCC TGCTCCTCT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0143 a0002c0002t0001g0143	1	372	0.0027	108	c.215 others(125): Show c.2154-196_2154-195insTTCCTCCTCCTCCTCTTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTC CTCTTCCTCCTTCTCCTCCTGCTCCTCTTC	FGFR4	ENSG00000160867.15	transcript	ENST00000292408.9	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
FHIT_chr3_59742277_61256452	60860060	C C	CATATATA others(101): Show CATATATATGATATATCTGATATATGATATATATATGATATATCTGATAT ATGATATATATATGATATATCTGATATATGATATATATATGATATATCTG ATATATGAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0022 a0001c0001t0012g0022	1	46	0.0217	108	c.-11 others(129): Show c.-110-38050_-110-38049insATCATATATCAGATATATCATATA TATATCATATATCAGATATATCATATATATATCATATATCAGATATATCA TATATATATCATATATCAGATATATCATATATAT	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	3/9			chr3	TogoVar
FLT3_chr13_27998274_28105576	27999036	C C	CATATAAA others(101): Show CATATAAATATATATGTATATACATATATATATGTATATACATATATATA TATGTATATACATATAAATATATATGTATATACATATAAATATATATGTA TATACATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 HG02074.hp1 HG02080.hp2 others(9): Show HG02015.hp2 HG02074.hp1 HG02080.hp2 NA18953.hp1 NA18971.hp1 NA18982.hp1 NA18991.hp2 NA19002.hp2 NA19064.hp1 NA19066.hp1 NA19081.hp1 NA19091.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0014	a0001c0001 a0001c0004 a0003c0003 others(3): Show a0001c0001 a0001c0004 a0003c0003 a0003c0010 a0004c0005 a0014c0028	a0001c0001t0002 a0001c0004t0002 a0003c0003t0002 others(3): Show a0001c0001t0002 a0001c0004t0002 a0003c0003t0002 a0003c0010t0002 a0004c0005t0002 a0014c0028t0002	a0001c0001t0002g0009 a0001c0001t0002g0028 a0001c0001t0002g0031 others(9): Show a0001c0001t0002g0009 a0001c0001t0002g0028 a0001c0001t0002g0031 a0001c0001t0002g0049 a0001c0001t0002g0058 a0001c0001t0002g0142 a0001c0004t0002g0105 a0003c0003t0002g0253 a0003c0010t0002g0262 a0004c0005t0002g0243 a0004c0005t0002g0264 a0014c0028t0002g0069	12	292	0.0411	108	c.50 others(119): Show c.5015_*5016insATATGTATATACATATATATTTATATGTATATAC ATATATATTTATATGTATATACATATATATATATGTATATACATATATAT ATGTATATACATATATATTTATAT	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4237		chr13	TogoVar
FLT4_chr5_180596506_180654600	180635201	G G	GGTGGGTG others(101): Show GGTGGGTGGGTGGATGGATGCATGGATGGATGGAAGTATGGGTGGATGGG TGGGTGGATGGAAGTATGGGTGGATGGGTGGATGGGTGGGTGGGTGGGTG GATGGATGC	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0273 a0001c0001t0002g0273	1	388	0.0026	108	c.59- others(123): Show c.59-3424_59-3423insGCATCCATCCACCCACCCACCCACCCATCC ACCCATCCACCCATACTTCCATCCACCCACCCATCCACCCATACTTCCAT CCATCCATGCATCCATCCACCCACCCAC	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29			chr5	TogoVar
FMN1_chr15_32760544_33199714	32777963	T T	TATATATT others(101): Show TATATATTATGTATAATATATAATACATTATATATTATGTATAATATATA ATACATTATATATTATGTATAATATATAATACATTATATATTATGTATAA TATATAATA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0026 a0026	a0026c0036 a0026c0036	a0026c0036t0047 a0026c0036t0047	a0026c0036t0047g0079 a0026c0036t0047g0079	1	196	0.0051	108	c.413 others(127): Show c.4131-1045_4131-1044insTATTATATATTATACATAATATATAA TGTATTATATATTATACATAATATATAATGTATTATATATTATACATAAT ATATAATGTATTATATATTATACATAATATAT	FMN1	ENSG00000248905.10	transcript	ENST00000616417.5	protein_coding	19/20			chr15	TogoVar
FMN1_chr15_32760544_33199714	32950018	C C	CATATATA others(101): Show CATATATATATACACATACACATATATATATACACATATATATATACACA TATATATATACACATATATATATATACACATATATATATATACACATATA TATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0007 a0007	a0007c0095 a0007c0095	a0007c0095t0045 a0007c0095t0045	a0007c0095t0045g0142 a0007c0095t0045g0142	1	196	0.0051	108	c.313 others(129): Show c.3138+14088_3138+14089insATATATATATATATGTGTATATAT ATATATGTGTATATATATATATGTGTATATATATATGTGTATATATATAT GTGTATATATATATGTGTATGTGTATATATATAT	FMN1	ENSG00000248905.10	transcript	ENST00000616417.5	protein_coding	9/20			chr15	TogoVar
FMN1_chr15_32760544_33199714	32950022	T T	TATATATA others(101): Show TATATATACACATACACATATATATATACACATATATATATACACATACA CATATATATATACACATATATATATACACATATATATATACACATATATA TATATACAC	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0024 a0024	a0024c0061 a0024c0061	a0024c0061t0001 a0024c0061t0001	a0024c0061t0001g0063 a0024c0061t0001g0063	1	196	0.0051	108	c.313 others(129): Show c.3138+14084_3138+14085insGTGTATATATATATATGTGTATAT ATATATGTGTATATATATATGTGTATATATATATGTGTATGTGTATATAT ATATGTGTATATATATATGTGTATGTGTATATAT	FMN1	ENSG00000248905.10	transcript	ENST00000616417.5	protein_coding	9/20			chr15	TogoVar
FMNL1_chr17_45216885_45252318	45217518	C C	CTCCTTCC others(101): Show CTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	384	0.0026	108	c.-46 others(119): Show c.-4607_-4606insTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCT	FMNL1	ENSG00000184922.15	transcript	ENST00000331495.8	protein_coding		4366		chr17	TogoVar
FMNL1_chr17_45216885_45252318	45217538	T T	TTCCTTCC others(101): Show TTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0028 a0002c0003t0001g0028	1	384	0.0026	108	c.-45 others(119): Show c.-4587_-4586insTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTC CCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTCCCTCCC	FMNL1	ENSG00000184922.15	transcript	ENST00000331495.8	protein_coding		4346		chr17	TogoVar
FMNL1_chr17_45216885_45252318	45217542	T T	TTCCTTCC others(101): Show TTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0061 a0002c0003t0001g0061	1	384	0.0026	108	c.-45 others(119): Show c.-4583_-4582insTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTC CCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTCCCTCCC	FMNL1	ENSG00000184922.15	transcript	ENST00000331495.8	protein_coding		4342		chr17	TogoVar
FMR1NB_chrX_147976337_148031665	147981234	T T	TCACGGAC others(101): Show TCACGGACTGCCCCGGAAGCTTCTGGGCCACGGACTGCCCCGGAAGCTTC TGGGCCACGGACTGCCCCGGAAGCTTCTGGGCCACGGACTGCCCCGGAAG CTTCTGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01361.hp2 HG02080.hp1 others(4): Show HG01192.hp1 HG01361.hp2 HG02080.hp1 HG02630.hp2 NA18941.hp2 NA18947.hp2 NA19055.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0081 a0001c0001t0001g0089 a0001c0001t0001g0091 others(4): Show a0001c0001t0001g0081 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0220 a0001c0001t0001g0225 a0002c0002t0001g0010 a0002c0002t0001g0227	7	275	0.0255	108	c.-16 others(117): Show c.-169_-168insCACGGACTGCCCCGGAAGCTTCTGGGCCACGGACTG CCCCGGAAGCTTCTGGGCCACGGACTGCCCCGGAAGCTTCTGGGCCACGG ACTGCCCCGGAAGCTTCTGGGC	FMR1NB	ENSG00000176988.9	transcript	ENST00000370467.8	protein_coding		102		chrX	TogoVar
FN3K_chr17_82730615_82756196	82738930	A A	ATATATAT others(101): Show ATATATATATATATATATGTGTATATATATATATATATGTGTATATATAT ATATACGTGTATATATATACGTATATATATACGTGTATATATATATATAT ATACACGTG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0198 a0001c0001t0003g0198	1	402	0.0025	108	c.293 others(123): Show c.293+307_293+308insGTGTATATATATATATATATGTGTATATAT ATATATACGTGTATATATATACGTATATATATACGTGTATATATATATAT ATATACACGTGTATATATATATATATAT	FN3K	ENSG00000167363.14	transcript	ENST00000300784.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
FN3K_chr17_82730615_82756196	82738934	A A	ATATATAC others(101): Show ATATATACGTGTATATATATATATATATATATATATACGTGTATATATAT ATATACGTGTATATATATACACGTATATATATACGTGTATATATATATAT ATACACGTG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0144 a0001c0001t0029g0144	1	402	0.0025	108	c.293 others(123): Show c.293+300_293+301insCGTGTATATATATATATATATATATATATA CGTGTATATATATATATACGTGTATATATATACACGTATATATATACGTG TATATATATATATATACACGTGTATATA	FN3K	ENSG00000167363.14	transcript	ENST00000300784.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
FNDC10_chr1_1593012_1605135	1595852	G G	GACAGAGA others(101): Show GACAGAGAGACAGAGAGAAACAGAGACAGAGACAGAGAGGCAGACAGAGA GAGAGAGACAGACAGAGAGCAGAACAGGGAGAGACAAAGAGACAGAGAGA GAGAGACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	406	0.0025	108	c.34 others(119): Show c.3482_*3483insGTGTCTCTCTCTCTCTGTCTCTTTGTCTCTCCCT GTTCTGCTCTCTGTCTGTCTCTCTCTCTCTGTCTGCCTCTCTGTCTCTGT CTCTGTTTCTCTCTGTCTCTCTGT	FNDC10	ENSG00000228594.4	transcript	ENST00000422725.4	protein_coding		2159		chr1	TogoVar
FOLR1_chr11_72187140_72201299	72201226	G G	GTATACAC others(101): Show GTATACACGTATACGTATGTATACACGTATACGTATGTATACACGTATAC ACGTATGTATACGTCTACACGTATGTATACATATACACGTATGTATACGT CTACACGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	412	0.0024	108	c.50 others(119): Show c.5049_*5050insTATACACGTATACGTATGTATACACGTATACGTA TGTATACACGTATACACGTATGTATACGTCTACACGTATGTATACATATA CACGTATGTATACGTCTACACGTA	FOLR1	ENSG00000110195.14	transcript	ENST00000393676.5	protein_coding		4928		chr11	TogoVar
FOLR1_chr11_72187140_72201299	72201298	G G	GTATACAC others(101): Show GTATACACGTATACGTATGTATACACGTATACGTATGTATACACGTATAC ACGTATGTATACGTCTACACGTATGTATACATATACACGTATGTATACGT CTACACGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	412	0.0024	108	c.51 others(119): Show c.5121_*5122insTATACACGTATACGTATGTATACACGTATACGTA TGTATACACGTATACACGTATGTATACGTCTACACGTATGTATACATATA CACGTATGTATACGTCTACACGTA	FOLR1	ENSG00000110195.14	transcript	ENST00000393676.5	protein_coding		5000		chr11	TogoVar
FOXN3_chr14_89151177_89422233	89361920	C C	CACCTCCA others(101): Show CACCTCCACCACCACCTCCACCACTACCACCTCCAGCACTACCTCCACCA CCACCACCTCCAGCACCACCACCTCCAGCACCACCTCCACCACTACCACC TCCACCACT	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0144 a0001c0001t0007g0144	1	230	0.0044	108	c.544 others(127): Show c.544-11113_544-11112insAGTGGTGGAGGTGGTAGTGGTGGAGG TGGTGCTGGAGGTGGTGGTGCTGGAGGTGGTGGTGGTGGAGGTAGTGCTG GAGGTGGTAGTGGTGGAGGTGGTGGTGGAGGT	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXP1_chr3_70949708_71588728	71435687	G G	GGGACGGA others(101): Show GGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGG GAGGGAGGGAAGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGA GGGAGGGAC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0023 a0001c0001t0066g0023	1	96	0.0104	108	c.-16 others(129): Show c.-168+57738_-168+57739insGTCCCTCCCTCCCTCCCTCCGTCC CTCCCTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCCTCCGTCCCTTCCT CCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCC	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
FRMD4A_chr10_13638706_14335924	13884214	A A	ACTCACAC others(101): Show ACTCACACACACACACTCACACACACTCACACACACACACTCACACGCAC ACTCACACACTCACACACACACACTCACACACACTCACACACACTCTCAC ACACACACT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0006 a0001c0009t0002g0006	1	134	0.0075	108	c.46- others(125): Show c.46-25303_46-25302insAGTGTGTGTGTGAGAGTGTGTGTGAGTG TGTGTGAGTGTGTGTGTGTGAGTGTGTGAGTGTGCGTGTGAGTGTGTGTG TGTGAGTGTGTGTGAGTGTGTGTGTGTGAG	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	2/24			chr10	TogoVar
FRMD5_chr15_43865764_44200271	43999961	T T	TATATATA others(101): Show TATATATATATATATGCCATGCATATATATATATATATATGCCATGCATA TATATATATATATATGCCATGCATATATATATATATATATATATATATAT ATGCCATGC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	146	0.0069	108	c.103 others(127): Show c.103-75653_103-75652insGCATGGCATATATATATATATATATA TATATATATATGCATGGCATATATATATATATATATGCATGGCATATATA TATATATATATGCATGGCATATATATATATAT	FRMD5	ENSG00000171877.21	transcript	ENST00000417257.6	protein_coding	1/13			chr15	TogoVar
FTCD_chr21_46131779_46160579	46134455	C C	CAGGGTCA others(101): Show CAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTA GGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTGAGG GTCAGGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0020 a0001c0003t0003g0020	1	230	0.0044	108	c.25 others(119): Show c.2531_*2532insAAACCTGACCCTCACCCTCACCCTCACCCTGACC CTAAACCTGACCCTCACCCTGACCCTAAACCTGACCCTCACCCTGACCCT AAACCTGACCCTCACCCTGACCCT	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding		2323		chr21	TogoVar
FTCD_chr21_46131779_46160579	46134677	C C	CAGGGTCA others(101): Show CAGGGTCAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTCAGGTTTA GGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGGGTCAGGTTTAGGGTGAGG GTCAGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0106 a0001c0003t0003g0106	1	230	0.0044	108	c.23 others(119): Show c.2309_*2310insCACCCTGACCCTCACCCTAAACCTGACCCTGACC CTGACCCTGACCCTAAACCTGACCCTAAACCTGACCCTGACCCTAAACCT GACCCTCACCCTGACCCTGACCCT	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding		2101		chr21	TogoVar
FTCD_chr21_46131779_46160579	46134677	C C	CAGGGTCA others(101): Show CAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTCAGGTTTAGGGTCA GGTTTAGGGTCAGGGTCAGGGTCAGGGTCAGGGTCAGGTTTAGGGTGAGG GTCAGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0110 a0001c0003t0003g0110	1	230	0.0044	108	c.23 others(119): Show c.2309_*2310insCACCCTGACCCTCACCCTAAACCTGACCCTGACC CTGACCCTGACCCTGACCCTAAACCTGACCCTAAACCTGACCCTGACCCT AAACCTGACCCTCACCCTGACCCT	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding		2101		chr21	TogoVar
FTCD_chr21_46131779_46160579	46134677	C C	CAGGTTTA others(101): Show CAGGTTTAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTCAGGGTCA GGTTTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTGAGGGTGAGGGTGAGG GTGAGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0001 a0003c0014t0001	a0003c0014t0001g0137 a0003c0014t0001g0137	1	230	0.0044	108	c.23 others(119): Show c.2309_*2310insCACCCTCACCCTCACCCTCACCCTCACCCTAAAC CTGACCCTCACCCTGACCCTAAACCTGACCCTGACCCTAAACCTGACCCT CACCCTCACCCTCACCCTAAACCT	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding		2101		chr21	TogoVar
FTCD_chr21_46131779_46160579	46134695	T T	TAGGGTCA others(101): Show TAGGGTCAGGGTCAGGTTTAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCA GGGTCAGGTTTAGGGTGAGGGTCAGGGTGAGGGTGAGGGTGAGGGTGAGG GTGAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0020 a0001c0003t0003g0020	1	230	0.0044	108	c.22 others(119): Show c.2291_*2292insGACCCTCACCCTCACCCTCACCCTCACCCTCACC CTGACCCTCACCCTAAACCTGACCCTGACCCTGACCCTGACCCTAAACCT GACCCTAAACCTGACCCTGACCCT	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding		2083		chr21	TogoVar
FTCD_chr21_46131779_46160579	46134695	T T	TAGGGTCA others(101): Show TAGGGTCAGGGTCAGGTTTAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCA GGGTCAGGTTTAGGGTGAGGGTCAGGGTGAGGGTGAGGGTGAGGGTGAGG GTGAGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG01975.hp1 HG00423.hp2 HG01975.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0005 a0001c0003t0003 a0001c0003t0005	a0001c0003t0003g0174 a0001c0003t0005g0221 a0001c0003t0003g0174 a0001c0003t0005g0221	2	230	0.0087	108	c.22 others(119): Show c.2291_*2292insCACCCTCACCCTCACCCTCACCCTCACCCTCACC CTGACCCTCACCCTAAACCTGACCCTGACCCTGACCCTGACCCTAAACCT GACCCTAAACCTGACCCTGACCCT	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding		2083		chr21	TogoVar
FTHL17_chrX_31066233_31077041	31067208	T T	TATGTGGA others(101): Show TATGTGGATATACACACATATACACACATATGTGGATATACACACATATA CACACATATGTGGATATACACACATATACACACATGTGGATATACACACA TATACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	336	0.0030	108	c.41 others(119): Show c.4193_*4194insGTGTGTATATGTGTGTATATCCACATGTGTGTAT ATGTGTGTATATCCACATATGTGTGTATATGTGTGTATATCCACATATGT GTGTATATGTGTGTATATCCACAT	FTHL17	ENSG00000132446.7	transcript	ENST00000359202.5	protein_coding		4024		chrX	TogoVar
FTHL17_chrX_31066233_31077041	31067475	T T	TGCACACA others(101): Show TGCACACACACGTGTGTATATACACATATGCACACACACGTGTGTATATA CACATATGCACACACACGTGTGTATATACACATATGCACACACACGTGTG TATATACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 HG02486.hp1 NA18979.hp1 others(2): Show HG02155.hp2 HG02486.hp1 NA18979.hp1 NA18983.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	5	336	0.0149	108	c.39 others(119): Show c.3926_*3927insGTGTATATACACACGTGTGTGTGCATATGTGTAT ATACACACGTGTGTGTGCATATGTGTATATACACACGTGTGTGTGCATAT GTGTATATACACACGTGTGTGTGC	FTHL17	ENSG00000132446.7	transcript	ENST00000359202.5	protein_coding		3757		chrX	TogoVar
FXR2_chr17_7586230_7619897	7609986	A A	ATACATGT others(101): Show ATACATGTATATGTATACATATATATACATGTATATGTATACATATATAT ACATGTATATGTATACATATATATACATGTATATGTATACATATATATAC ATGTATATG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02280.hp2 HG00639.hp1 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0027 a0001c0002t0001g0027	2	426	0.0047	108	c.82- others(123): Show c.82-3838_82-3837insCATATACATGTATATATATGTATACATATA CATGTATATATATGTATACATATACATGTATATATATGTATACATATACA TGTATATATATGTATACATATACATGTA	FXR2	ENSG00000129245.13	transcript	ENST00000250113.12	protein_coding	1/16			chr17	TogoVar
GAA_chr17_80096581_80124881	80120357	C C	CCCTCCCC others(101): Show CCCTCCCCTCCTTCCCTCCCCTCCTCACCTGACCTCCCCTCCCCACGTCA CCTCCCTTCCCCTCCCCACCTCACCTCCCCTCCCCTCCTCCCCTCCCCTC CTCACCTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0075 a0003c0003t0004g0075	1	416	0.0024	108	c.10 others(119): Show c.1026_*1027insCCTCCCCTCCTTCCCTCCCCTCCTCACCTGACCT CCCCTCCCCACGTCACCTCCCTTCCCCTCCCCACCTCACCTCCCCTCCCC TCCTCCCCTCCCCTCCTCACCTGA	GAA	ENSG00000171298.14	transcript	ENST00000302262.8	protein_coding		477		chr17	TogoVar
GABBR2_chr9_98283109_98713935	98393349	A A	ATCCATCC others(101): Show ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCACACACCCACTCATCCACCCAACCATCCATCCATCCACTCATCCACCA GCCCAACCT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp1 HG02109.hp1 HG02258.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0027 a0002c0016t0044 a0002c0016t0027 a0002c0016t0044	a0002c0016t0027g0048 a0002c0016t0044g0134 a0002c0016t0027g0048 a0002c0016t0044g0134	2	164	0.0122	108	c.137 others(125): Show c.1378+825_1378+826insAGGTTGGGCTGGTGGATGAGTGGATGGA TGGATGGTTGGGTGGATGAGTGGGTGTGTGGATGGATGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATGGA	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	9/18			chr9	TogoVar
GABRA3_chrX_152161234_152456315	152275199	T T	TTTATATT others(101): Show TTTATATTTAATATTATATATATAATTTATATATATTTAATATTATATAT ATAATTTATATTTAATATTATATATATAATTTATATATATTTAATATTAT ATATATAAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0078 a0001c0001t0010g0085 a0001c0001t0010g0078 a0001c0001t0010g0085	2	204	0.0098	108	c.330 others(125): Show c.330+9468_330+9469insTTTATATATATAATATTAAATATATATA AATTATATATATAATATTAAATATAAATTATATATATAATATTAAATATA TATAAATTATATATATAATATTAAATATAA	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	4/9			chrX	TogoVar
GABRP_chr5_170778725_170819047	170802699	T T	TTTTCTCT others(101): Show TTTTCTCTGTTCAGCCTCTGTTTCACATATACCATCCCCAGTGAGCGGAG GGAGTTTTCTCTGTTCAGCCTCTGTTTCACATATACCATCCCCAGTGAGC GGAGGGAGC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02886.hp1 HG02486.hp2 HG02886.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0010	a0001c0005t0010g0035 a0001c0005t0010g0035	2	362	0.0055	108	c.542 others(125): Show c.542-2964_542-2963insTTTTCTCTGTTCAGCCTCTGTTTCACAT ATACCATCCCCAGTGAGCGGAGGGAGCTTTCTCTGTTCAGCCTCTGTTTC ACATATACCATCCCCAGTGAGCGGAGGGAG	GABRP	ENSG00000094755.17	transcript	ENST00000265294.9	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GALNS_chr16_88808734_88861947	88831702	T T	TGCGTGGG others(101): Show TGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAG AGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGA GCACGGGGA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	404	0.0025	108	c.100 others(125): Show c.1002+188_1002+295dupTCCCCGTGCTCGGCCTCACCGCTCTCCT CCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCG TGCTCGGCCTCACCGCTCTCCTCCCCACGC	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13			chr16	TogoVar
GALNS_chr16_88808734_88861947	88831702	T T	TGCGTGGG others(101): Show TGCGTGGGGAGGAGAGCGGTGAGGCGGAGCACGGGGTGCGTGGGGAGGAG AGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGA GCACGGGGA	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0309 a0001c0001t0001g0309	1	404	0.0025	108	c.100 others(125): Show c.1002+295_1002+296insTCCCCGTGCTCGGCCTCACCGCTCTCCT CCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCG TGCTCCGCCTCACCGCTCTCCTCCCCACGC	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13			chr16	TogoVar
GALNS_chr16_88808734_88861947	88831751	G G	GAGCGGTG others(101): Show GAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCG AGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCATGGGGTGCGT GGGGAGGAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02280.hp1 HG02559.hp1 others(3): Show HG01891.hp2 HG02280.hp1 HG02559.hp1 HG02970.hp2 HG03041.hp2 HG03453.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0003 a0007c0009t0003	a0007c0009t0003g0107 a0007c0009t0003g0108 a0007c0009t0003g0109 others(3): Show a0007c0009t0003g0107 a0007c0009t0003g0108 a0007c0009t0003g0109 a0007c0009t0003g0110 a0007c0009t0003g0111 a0007c0009t0003g0112	6	404	0.0149	108	c.100 others(125): Show c.1002+246_1002+247insGTCCTCCCCACGCACCCCATGCTCGGCC TCACCGCTCTCCTCCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCTC CCCACGCACCCCGTGCTCGGCCTCACCGCT	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13			chr16	TogoVar
GALNS_chr16_88808734_88861947	88831751	G G	GAGCGGTG others(101): Show GAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCGG AGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGT GGGGAGGAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01433.hp1 HG01109.hp1 HG01433.hp1	a0001 a0001	a0001c0002 a0001c0018 a0001c0002 a0001c0018	a0001c0002t0002 a0001c0018t0002 a0001c0002t0002 a0001c0018t0002	a0001c0002t0002g0206 a0001c0018t0002g0095 a0001c0002t0002g0206 a0001c0018t0002g0095	2	404	0.0050	108	c.100 others(125): Show c.1002+246_1002+247insGTCCTCCCCACGCACCCCGTGCTCGGCC TCACCGCTCTCCTCCCCACGCACCCCGTGCTCCGCCTCACCGCTCTCCTC CCCACGCACCCCGTGCTCGGCCTCACCGCT	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13			chr16	TogoVar
GALNT9_chr12_132191372_132334589	132247673	G G	GGATGCCG others(101): Show GGATGCCGTGGCCGCACTCGCCCTCACCCCGTCCCCGGATGCCGTGGCCG CACTCGCCCTCACCCCGTCCCCAGACACCGCGGCCTCACTCGCCCTCACC CCGTCCCCA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0067 a0001c0015t0001g0067	1	183	0.0055	108	c.107 others(125): Show c.1077+236_1077+237insTGGGGACGGGGTGAGGGCGAGTGAGGCC GCGGTGTCTGGGGACGGGGTGAGGGCGAGTGCGGCCACGGCATCCGGGGA CGGGGTGAGGGCGAGTGCGGCCACGGCATC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar

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Search Results (Total: 10000 hits)