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
SERPINA5_chr14_94576426_94598118	94591564	A A	ATTCTATT others(46): Show ATTCTATTCTATTCTATTCTATTCTATTCTATTCTATTCTATTCTATTCT ATTC	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA18747.hp1 HG01891.hp1 NA18747.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0004 a0003c0002t0004	a0003c0002t0004g0207 a0003c0002t0004g0239 a0003c0002t0004g0207 a0003c0002t0004g0239	2	464	0.0043	53	c.103 others(70): Show c.1039-444_1039-443insATTCTTCTATTCTATTCTATTCTATTCT ATTCTATTCTATTCTATTCTATTCT	SERPINA5	ENSG00000188488.14	transcript	ENST00000329597.12	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
SERPINB7_chr18_63770418_63810370	63783216	G G	GAGAAAGA others(46): Show GAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGA AGAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03225.hp2 HG02630.hp2 HG03225.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0028 a0001c0004t0006g0383 a0001c0004t0006g0028 a0001c0004t0006g0383	2	432	0.0046	53	c.168 others(68): Show c.168+679_168+680insAAGAAAGAAAGAAAGAAAGAGAAAGAAAGA AAGAAAGAAAGAAAGAAGAAAGA	SERPINB7	ENSG00000166396.13	transcript	ENST00000398019.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETDB2_chr13_49439274_49500003	49441226	T T	TATATATA others(46): Show TATATATATTATATATATATATATATATATAATATATATATATATATATA TATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG02071.hp2 NA18612.hp1 others(13): Show HG00408.hp1 HG02071.hp2 NA18612.hp1 NA18747.hp2 NA18953.hp2 NA18967.hp1 NA18972.hp1 NA18973.hp1 NA18977.hp2 NA18982.hp2 NA18998.hp2 NA19007.hp2 NA19055.hp1 NA19068.hp2 NA19080.hp1 NA19088.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0013 a0001c0002t0002 a0001c0002t0013	a0001c0002t0002g0001 a0001c0002t0002g0240 a0001c0002t0002g0241 others(9): Show a0001c0002t0002g0001 a0001c0002t0002g0240 a0001c0002t0002g0241 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0002g0251 a0001c0002t0002g0252 a0001c0002t0002g0253 a0001c0002t0002g0254 a0001c0002t0013g0242 a0001c0002t0013g0262	16	406	0.0394	53	c.-39 others(64): Show c.-3973_-3972insATATATATTATATATATATATATATATATAATAT ATATATATATATATATATA	SETDB2	ENSG00000136169.17	transcript	ENST00000611815.2	protein_coding		3047		chr13	TogoVar
SEZ6L_chr22_26164462_26388596	26292021	A A	AAGGAAGG others(46): Show AAGGAAGGATGGATGGAAGGAAAGAAGGAAGGAAATGAAGGAAGAAAATG AAGG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0100 a0002c0002t0001g0100	1	240	0.0042	53	c.95- others(66): Show c.95-377_95-376insTGGATGGAAGGAAAGAAGGAAGGAAATGAAGG AAGAAAATGAAGGAGGAAGGA	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26348748	A A	AGGAAGGG others(46): Show AGGAAGGGAGGGGGAGGGAAGGGGAGGGAAGGAGAGGGAAGGGAGGGAAG GGAG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	240	0.0042	53	c.240 others(70): Show c.2407+866_2407+867insAGAGGGAAGGGAGGGAAGGGAGGGAAGG GAGGGGGAGGGAAGGGGAGGGAAGG	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SH3BP2_chr4_2788085_2846096	2802616	A A	ATATACGT others(46): Show ATATACGTGTATGTATGTGGTGTGTGTATATATATATGTATATGTGTGTG TGTG	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0123 a0001c0003t0013g0123	1	378	0.0027	53	c.-5+ others(68): Show c.-5+9482_-5+9483insCGTGTATGTATGTGGTGTGTGTATATATAT ATGTATATGTGTGTGTGTGTATA	SH3BP2	ENSG00000087266.17	transcript	ENST00000503393.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
SH3BP2_chr4_2788085_2846096	2802622	G G	GTGTATGT others(46): Show GTGTATGTATGTGGTGTGTGTATATATATATGTATATGTGTGTGTGTGTA TATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp2 HG01884.hp1 others(18): Show HG01243.hp1 HG01243.hp2 HG01884.hp1 HG01934.hp1 HG01975.hp2 HG02055.hp2 HG02273.hp1 HG02572.hp2 HG03139.hp1 HG03492.hp1 HG03688.hp2 NA18945.hp2 NA18948.hp2 NA18959.hp1 NA18969.hp1 NA18981.hp1 NA18994.hp2 NA19004.hp2 NA19068.hp1 NA19080.hp2 NA19086.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0009 others(1): Show a0001c0002 a0001c0003 a0001c0009 a0001c0011	a0001c0002t0003 a0001c0002t0028 a0001c0003t0008 others(9): Show a0001c0002t0003 a0001c0002t0028 a0001c0003t0008 a0001c0003t0013 a0001c0003t0015 a0001c0003t0021 a0001c0003t0074 a0001c0003t0080 a0001c0003t0081 a0001c0003t0088 a0001c0009t0021 a0001c0011t0003	a0001c0002t0003g0004 a0001c0002t0028g0128 a0001c0003t0008g0125 others(14): Show a0001c0002t0003g0004 a0001c0002t0028g0128 a0001c0003t0008g0125 a0001c0003t0008g0130 a0001c0003t0008g0131 a0001c0003t0013g0122 a0001c0003t0013g0124 a0001c0003t0013g0127 a0001c0003t0015g0041 a0001c0003t0015g0109 a0001c0003t0021g0049 a0001c0003t0074g0050 a0001c0003t0080g0133 a0001c0003t0081g0126 a0001c0003t0088g0135 a0001c0009t0021g0051 a0001c0011t0003g0129	21	378	0.0556	53	c.-5+ others(68): Show c.-5+9532_-5+9533insATATATGTATGTATGTGGTGTGTGTATATA TATATGTATATGTGTGTGTGTGT	SH3BP2	ENSG00000087266.17	transcript	ENST00000503393.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHOX_chrX_625791_656584	626585	G G	GTCTGTCT others(46): Show GTCTGTCTCTGTCTCTCTCTCTCCTCTCTCTGTATCTCTGTCTCTGTCTG TATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02145.hp1 HG02257.hp1 others(17): Show HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02280.hp2 HG02630.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03195.hp1 HG03453.hp2 HG03486.hp1 NA18906.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0008 a0001c0001t0016 others(17): Show a0001c0001t0007 a0001c0001t0008 a0001c0001t0016 a0001c0001t0020 a0001c0001t0029 a0001c0001t0033 a0001c0001t0046 a0001c0001t0090 a0001c0001t0091 a0001c0001t0104 a0001c0001t0157 a0001c0001t0161 a0001c0001t0164 a0001c0001t0174 a0001c0001t0179 a0001c0001t0182 a0001c0001t0183 a0001c0001t0187 a0001c0001t0189 a0001c0001t0196	a0001c0001t0007g0076 a0001c0001t0008g0117 a0001c0001t0016g0074 others(17): Show a0001c0001t0007g0076 a0001c0001t0008g0117 a0001c0001t0016g0074 a0001c0001t0020g0072 a0001c0001t0029g0091 a0001c0001t0033g0006 a0001c0001t0046g0118 a0001c0001t0090g0084 a0001c0001t0091g0119 a0001c0001t0104g0079 a0001c0001t0157g0089 a0001c0001t0161g0086 a0001c0001t0164g0080 a0001c0001t0174g0126 a0001c0001t0179g0116 a0001c0001t0182g0083 a0001c0001t0183g0081 a0001c0001t0187g0071 a0001c0001t0189g0067 a0001c0001t0196g0158	20	220	0.0909	53	c.-43 others(64): Show c.-4313_-4312insTCTGTCTCTGTCTCTCTCTCTCCTCTCTCTGTAT CTCTGTCTCTGTCTGTATC	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		4205		chrX	TogoVar
SIMC1_chr5_176233424_176350989	176305590	G G	GCCCCCCG others(46): Show GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTC AGCC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	360	0.0028	53	c.173 others(72): Show c.1735-8098_1735-8097insCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGGGTCAGCCCCC	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SKAP1_chr17_48128442_48435214	48413523	A A	AAAAAAAA others(46): Show AAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT ATAT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0205 a0001c0005t0002g0205	1	292	0.0034	53	c.46+ others(70): Show c.46+16551_46+16552insATATATATATATATATATATATATATAT ATATTTTTTTTTTTTTTTTTTTTTT	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	1/12			chr17	TogoVar
SKAP1_chr17_48128442_48435214	48413523	A A	AAAAAAAA others(46): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATAT ATAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	292	0.0034	53	c.46+ others(70): Show c.46+16551_46+16552insATATATATATATATATATATATATATAT ATATATATATTTTTTTTTTTTTTTT	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	1/12			chr17	TogoVar
SKAP1_chr17_48128442_48435214	48413523	A A	AAAAAAAT others(46): Show AAAAAAATATATATATATATATATATATATATATATATATATATATATAT ATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0089 a0002c0002t0001g0089	1	292	0.0034	53	c.46+ others(70): Show c.46+16551_46+16552insATATATATATATATATATATATATATAT ATATATATATATATATATATTTTTT	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	1/12			chr17	TogoVar
SLC10A6_chr4_86818468_86854384	86837304	A A	AGGAAGGA others(46): Show AGGAAGGAAGGAAGGAAGGAAGGGAGGAGGGAGGGAGGAAGAGGAAGGAA GTAG	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	350	0.0029	53	c.378 others(70): Show c.378-3881_378-3880insCTACTTCCTTCCTCTTCCTCCCTCCCTC CTCCCTTCCTTCCTTCCTTCCTTCC	SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5			chr4	TogoVar
SLC12A7_chr5_1045384_1117063	1070650	G G	GCCCCAGT others(46): Show GCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATG CAGC	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0067 a0002c0008t0002g0067	1	118	0.0085	53	c.224 others(72): Show c.2241+2982_2241+2983insGCTGCATAAGTGTGATGCCCGTGTGC TGGGGGCTCACTGGGGGCTCACTGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070690	G G	GCCCCAGT others(46): Show GCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGT GAGC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp2 HG02965.hp1 HG02965.hp2	a0002 a0003 a0002 a0003	a0002c0015 a0003c0037 a0002c0015 a0003c0037	a0002c0015t0015 a0003c0037t0003 a0002c0015t0015 a0003c0037t0003	a0002c0015t0015g0085 a0003c0037t0003g0008 a0002c0015t0015g0085 a0003c0037t0003g0008	2	118	0.0170	53	c.224 others(72): Show c.2241+2942_2241+2943insGCTCACTGGGGGCTGCATAAGTGTGA TGCCCGTGTGCTGGGGGCTCACTGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071368	C C	CAGCCCCC others(46): Show CAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCC AGTG	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0070 a0002c0004t0001g0070	1	118	0.0085	53	c.224 others(72): Show c.2241+2264_2241+2265insCACTGGGGGCTGCATAAGTGTGATGC CCGTGTGCTGGGGGCTCACTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071535	G G	GCCCCAGT others(46): Show GCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGTATCACACTTATG CAGC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0038 a0002c0038	a0002c0038t0014 a0002c0038t0014	a0002c0038t0014g0118 a0002c0038t0014g0118	1	118	0.0085	53	c.224 others(72): Show c.2241+2097_2241+2098insGCTGCATAAGTGTGATACCCGTGTGC TGGGGGCTCACTGGGGGCTCACTGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072983	C C	CAGCCCCC others(46): Show CAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCC AGTG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0015 a0002c0015t0015	a0002c0015t0015g0085 a0002c0015t0015g0085	1	118	0.0085	53	c.224 others(70): Show c.2241+597_2241+649dupCACTGGGGGCTGCATAAGTGTGATGCCC GTGTGCTGGGGGCTCACTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1095021	G G	GGCCGGTA others(46): Show GGCCGGTAGGAGGCGGGGGGGCGGTAGGAGGCGGGGGCGGGTAGGAGGCG GGGC	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0011 a0001c0006t0011	a0001c0006t0011g0079 a0001c0006t0011g0079	1	118	0.0085	53	c.125 others(68): Show c.125-774_125-773insGCCCCGCCTCCTACCCGCCCCCGCCTCCTA CCGCCCCCCCGCCTCCTACCGGC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1096737	A A	AAGGGAGG others(46): Show AAGGGAGGGAAGGAAGGAGGGAGGGAAGGAAGGAGGGAAGGGAGGGAAGG AAGG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0002 a0001c0003t0003g0002	1	118	0.0085	53	c.125 others(70): Show c.125-2490_125-2489insCCTTCCTTCCCTCCCTTCCCTCCTTCCT TCCCTCCCTCCTTCCTTCCCTCCCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1098270	G G	GCCCCCCT others(46): Show GCCCCCCTCTAACCCTCTGCACGCCCAGCCCCCCTCTAACCCTCTGCAAG CCCA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0006 a0006	a0006c0019 a0006c0019	a0006c0019t0009 a0006c0019t0009	a0006c0019t0009g0013 a0006c0019t0009g0013	1	118	0.0085	53	c.125 others(70): Show c.125-4023_125-4022insTGGGCTTGCAGAGGGTTAGAGGGGGGCT GGGCGTGCAGAGGGTTAGAGGGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1098431	G G	GGCCCCCT others(46): Show GGCCCCCTCTAACCCTCTGCACGCCCAGCCCCCCTCTAACCCTCTGCTCA CCAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01884.hp1 HG02055.hp1 others(5): Show HG01192.hp2 HG01884.hp1 HG02055.hp1 HG02698.hp1 HG03516.hp1 HG06807.hp2 NA19079.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0010 others(1): Show a0001c0001 a0001c0003 a0001c0010 a0001c0014	a0001c0001t0001 a0001c0003t0003 a0001c0010t0005 others(1): Show a0001c0001t0001 a0001c0003t0003 a0001c0010t0005 a0001c0014t0003	a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0003t0003g0002 others(5): Show a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0003t0003g0002 a0001c0003t0003g0004 a0001c0003t0003g0005 a0001c0003t0003g0006 a0001c0010t0005g0009 a0001c0014t0003g0093	8	118	0.0678	53	c.125 others(70): Show c.125-4184_125-4183insTTGGTGAGCAGAGGGTTAGAGGGGGGCT GGGCGTGCAGAGGGTTAGAGGGGGC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1098676	G G	GCCCCCCT others(46): Show GCCCCCCTCTAACCCTCTGCATGCCCAGCCCCCCTCTAACCCTCTGCACA CCCA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0083 a0002c0002t0002g0083	1	118	0.0085	53	c.125 others(70): Show c.125-4429_125-4428insTGGGTGTGCAGAGGGTTAGAGGGGGGCT GGGCATGCAGAGGGTTAGAGGGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC13A3_chr20_46552828_46656459	46656273	G G	GTATATAT others(46): Show GTATATATACTTAATATATATAATACTGTATATAATATACTATACAGTAT ACTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0359 a0001c0001t0001g0359	1	390	0.0026	53	c.-48 others(64): Show c.-4853_-4852insTAGTATACTGTATAGTATATTATATACAGTATTA TATATATTAAGTATATATA	SLC13A3	ENSG00000158296.14	transcript	ENST00000279027.9	protein_coding		4815		chr20	TogoVar
SLC17A9_chr20_62947709_62974585	62954025	C C	CGCCTTCA others(46): Show CGCCTTCACTACGTCCCTCCCAGGCTCGATGTTTAAAAAGGAGCCCTTGC CACA	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA19010.hp2 NA18947.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0069 a0001c0002t0002g0068 a0001c0001t0001g0069 a0001c0002t0002g0068	2	432	0.0046	53	c.59+ others(68): Show c.59+1186_59+1187insACAGCCTTCACTACGTCCCTCCCAGGCTCG ATGTTTAAAAAGGAGCCCTTGCC	SLC17A9	ENSG00000101194.18	transcript	ENST00000370351.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC18B1_chr6_132764370_132803637	132792356	G G	GAAAGAAG others(46): Show GAAAGAAGGAAAGAAGGAAAGAAAGAAAGAAAGAGAAAGAAAGAGAAAGA AAGA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03579.hp2 HG04204.hp1 others(2): Show HG01109.hp1 HG03579.hp2 HG04204.hp1 NA19091.hp2 NA21309.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0020 a0002c0004t0005 a0002c0004t0020	a0002c0004t0005g0008 a0002c0004t0005g0009 a0002c0004t0005g0010 others(2): Show a0002c0004t0005g0008 a0002c0004t0005g0009 a0002c0004t0005g0010 a0002c0004t0005g0011 a0002c0004t0020g0016	5	304	0.0165	53	c.184 others(70): Show c.184-2085_184-2084insTCTTTCTTTCTCTTTCTTTCTCTTTCTT TCTTTCTTTCCTTCTTTCCTTCTTT	SLC18B1	ENSG00000146409.12	transcript	ENST00000275227.9	protein_coding	2/13			chr6	TogoVar
SLC25A4_chr4_185138266_185155382	185141271	T T	TCTTTCTT others(46): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTTCTTTTCTTTTC TTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 NA18979.hp2 HG02738.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0004 a0001c0001t0005g0008 a0001c0001t0005g0004 a0001c0001t0005g0008	2	444	0.0045	53	c.-21 others(64): Show c.-2102_-2101insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTC TTTTCTTTTCTTTTCTTTC	SLC25A4	ENSG00000151729.11	transcript	ENST00000281456.11	protein_coding		1994		chr4	TogoVar
SLC25A6_chrX_1381152_1397113	1392966	C C	CCCGCCTC others(46): Show CCCGCCTCCCTCCTCCCGCCTCCCGCCTCCCTCCTCCCTCCCTCCCGCCT CCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG02109.hp2 HG02622.hp1 others(4): Show HG01496.hp2 HG02109.hp2 HG02622.hp1 HG02723.hp2 HG02886.hp2 HG02970.hp1 NA19065.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0007 a0001c0002t0001 a0002c0003t0007	a0001c0002t0001g0002 a0001c0002t0001g0027 a0002c0003t0007g0039 a0001c0002t0001g0002 a0001c0002t0001g0027 a0002c0003t0007g0039	7	196	0.0357	53	c.-95 others(62): Show c.-958_-957insCGGGAGGCGGGAGGGAGGGAGGAGGGAGGCGGGAGG CGGGAGGAGGGAGGCGG	SLC25A6	ENSG00000169100.14	transcript	ENST00000381401.11	protein_coding		854		chrX	TogoVar
SLC25A6_chrX_1381152_1397113	1392970	C C	CCCGCCTC others(46): Show CCCGCCTCCCTCCTCCCGCCTCCCGCCTCCCTCCTCCCTCCCTCCCGCCT CCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	196	0.0051	53	c.-96 others(62): Show c.-962_-961insCGGGAGGCGGGAGGGAGGGAGGAGGGAGGCGGGAGG CGGGAGGAGGGAGGCGG	SLC25A6	ENSG00000169100.14	transcript	ENST00000381401.11	protein_coding		858		chrX	TogoVar
SLC2A14_chr12_7807514_7877915	7826860	T T	TCCTTCCT others(46): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTC	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0004 a0001c0008t0001g0004	1	350	0.0029	53	c.864 others(68): Show c.864+634_864+635insGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGG	SLC2A14	ENSG00000173262.12	transcript	ENST00000431042.7	protein_coding	7/10			chr12	TogoVar
SLC30A5_chr5_69089014_69136069	69135279	T T	TTTCCTTA others(46): Show TTTCCTTAAGAACAGGATAGGCTTGCCTAATATGAAAGACTGCAATTGAT ACAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0233 a0001c0002t0001g0233	1	408	0.0025	53	c.56 others(64): Show c.5662_*5663insTTCCTTAAGAACAGGATAGGCTTGCCTAATATGA AAGACTGCAATTGATACAG	SLC30A5	ENSG00000145740.20	transcript	ENST00000396591.8	protein_coding		4211		chr5	TogoVar
SLC35A5_chr3_112557045_112590579	112585928	G G	GTTCTGCA others(46): Show GTTCTGCATGGCTGGGGAGGAGGCCTCAGCCTCCTCTTTAGAAAGACCAC ATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02622.hp1 NA20300.hp1 HG01243.hp1 HG02622.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0028 a0001c0003t0006g0060 a0001c0003t0006g0028 a0001c0003t0006g0060	3	372	0.0081	53	c.31 others(64): Show c.3192_*3193insTTCTGCATGGCTGGGGAGGAGGCCTCAGCCTCCT CTTTAGAAAGACCACATAC	SLC35A5	ENSG00000138459.9	transcript	ENST00000492406.6	protein_coding		350		chr3	TogoVar
SLC35F3_chr1_233899676_234329511	234267519	A A	ACCTCCCT others(46): Show ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCC CCGG	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	158	0.0063	53	c.608 others(72): Show c.608+35809_608+35810insGGGGGGCTGACCCCCCCCCCGGCCTC CCTCCCGGACGGGGCGGCTGGCCGGGC	SLC35F3	ENSG00000183780.13	transcript	ENST00000366618.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC35F3_chr1_233899676_234329511	234267547	G G	GGGCGGGG others(46): Show GGGCGGGGGGCTGACCCCCCCCCCGGCCTCCCTCCCGGACGGGGCGGCTG GCCA	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18960.hp2 NA18974.hp1 others(1): Show HG02083.hp1 NA18960.hp2 NA18974.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0004 a0001c0003t0002 a0001c0001t0001 a0001c0002t0004 a0001c0003t0002	a0001c0001t0001g0067 a0001c0002t0004g0010 a0001c0002t0004g0014 others(1): Show a0001c0001t0001g0067 a0001c0002t0004g0010 a0001c0002t0004g0014 a0001c0003t0002g0001	4	158	0.0253	53	c.608 others(72): Show c.608+35809_608+35810insGGGGGGCTGACCCCCCCCCCGGCCTC CCTCCCGGACGGGGCGGCTGGCCAGGC	SLC35F3	ENSG00000183780.13	transcript	ENST00000366618.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC45A4_chr8_141202174_141313288	141203455	G G	GGAGAGAG others(46): Show GGAGAGAGGGAGAGGGAGACCATGGAGAGAGAGAGAGAGAGAGAGAGGGA GAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0016 a0001c0016t0016	a0001c0016t0016g0001 a0001c0016t0016g0001	1	188	0.0053	53	c.81 others(64): Show c.8116_*8117insTCTCTCCCTCTCTCTCTCTCTCTCTCTCTCCATG GTCTCCCTCTCCCTCTCTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3718		chr8	TogoVar
SLC4A1_chr17_44243390_44273135	44263707	C C	CTCCTTCC others(46): Show CTCCTTCCTTCCTTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCTTCCT TCCT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0089 a0001c0001t0015g0089	1	406	0.0025	53	c.-68 others(68): Show c.-68-774_-68-773insAGGAAGGAAGGAAGGAGGGAAGGGAGGGAA GGAGGGAAGGAAGGAAGGAAGGA	SLC4A1	ENSG00000004939.16	transcript	ENST00000262418.12	protein_coding	1/19			chr17	TogoVar
SLC4A1_chr17_44243390_44273135	44263711	T T	TTCCTTCC others(46): Show TTCCTTCCTTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCTTCCTTCCT TCCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02622.hp1 HG02630.hp2 others(4): Show HG01884.hp1 HG02622.hp1 HG02630.hp2 HG02896.hp2 HG02976.hp1 HG03579.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0033 a0001c0001t0001 a0001c0001t0003 a0001c0001t0033	a0001c0001t0001g0049 a0001c0001t0001g0304 a0001c0001t0003g0117 others(3): Show a0001c0001t0001g0049 a0001c0001t0001g0304 a0001c0001t0003g0117 a0001c0001t0003g0235 a0001c0001t0003g0305 a0001c0001t0033g0116	7	406	0.0172	53	c.-68 others(68): Show c.-68-778_-68-777insGGGAAGGAAGGAAGGAAGGAGGGAAGGGAG GGAAGGAGGGAAGGAAGGAAGGA	SLC4A1	ENSG00000004939.16	transcript	ENST00000262418.12	protein_coding	1/19			chr17	TogoVar
SLC66A2_chr18_79897420_79956653	79944893	T T	TCAGAGCA others(46): Show TCAGAGCAGAAGCAGGGGGAACCCCACAGGCCCCTCAGCACCCCCTTATC AACA	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0029 a0001c0001t0004g0029	1	352	0.0028	53	c.204 others(70): Show c.204-1432_204-1431insTGTTGATAAGGGGGTGCTGAGGGGCCTG TGGGGTTCCCCCTGCTTCTGCTCTG	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	2/5			chr18	TogoVar
SLC9A9_chr3_143260222_143853468	143449378	T T	TATATAAA others(46): Show TATATAAAATAATTATATAAAATATAATTATATAAAATAATTATATAAAA TATA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG03239.hp2 HG03579.hp1 HG01069.hp2 HG03239.hp2 HG03579.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0003 a0001c0001t0011 a0003c0006t0022 a0001c0001t0003 a0001c0001t0011 a0003c0006t0022	a0001c0001t0003g0045 a0001c0001t0011g0024 a0003c0006t0022g0108 a0001c0001t0003g0045 a0001c0001t0011g0024 a0003c0006t0022g0108	3	108	0.0278	53	c.146 others(74): Show c.1469+17658_1469+17659insTATATTTTATATAATTATTTTATA TAATTATATTTTATATAATTATTTTATAT	SLC9A9	ENSG00000181804.15	transcript	ENST00000316549.11	protein_coding	12/15			chr3	TogoVar
SLTM_chr15_58874050_58938679	58882181	C C	CAAAAAAA others(46): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	386	0.0026	53	c.299 others(72): Show c.2996+1444_2996+1445insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTT	SLTM	ENSG00000137776.17	transcript	ENST00000380516.7	protein_coding	20/20			chr15	TogoVar
SLX9_chr21_44935029_44981973	44953449	C C	CGGTGGGG others(46): Show CGGTGGGGCCCCTGCGTCCGGGCCTCGGGAGCCTGTCCTGCACCATCCCC GGCG	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0227 a0004c0004t0001g0227	1	334	0.0030	53	c.284 others(70): Show c.284-6641_284-6640insCTGCGTCCGGGCCTCGGGAGCCTGTCCT GCACCATCCCCGGCGGGTGGGGCCC	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
SMG6_chr17_2054843_2308785	2114959	T T	TAAAATAA others(46): Show TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0002 a0007c0007t0002	a0007c0007t0002g0028 a0007c0007t0002g0028	1	278	0.0036	53	c.335 others(74): Show c.3358-29059_3358-29058insTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	13/18			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55500967	T T	TATATATT others(46): Show TATATATTATAATATATTATATTTTATAACATATAATATATTATATATTA TAAC	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	340	0.0029	53	c.17 others(72): Show c.174+9911_*174+9912insGTTATAATATATAATATATTATATGT TATAAAATATAATATATTATAATATAT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501214	A A	ATATATCT others(46): Show ATATATCTTATATTTTATAATATATAATATATCTTATAATATATAATATA GTAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02965.hp2 HG02257.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0004 a0001c0001t0012g0005 a0001c0001t0012g0004 a0001c0001t0012g0005	2	340	0.0059	53	c.17 others(72): Show c.174+9664_*174+9665insATACTATATTATATATTATAAGATAT ATTATATATTATAAAATATAAGATATA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMYD4_chr17_1774485_1834902	1794105	A A	ATGTGTGT others(46): Show ATGTGTGTATATATATATATGTGTATATATATGTATATATATATATATAT ATAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 NA18957.hp1 HG00741.hp1 NA18957.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0282 a0002c0002t0002g0323 a0002c0002t0002g0282 a0002c0002t0002g0323	2	390	0.0051	53	c.153 others(72): Show c.1537+5751_1537+5752insATATATATATATATATATATACATAT ATATACACATATATATATATACACACA	SMYD4	ENSG00000186532.12	transcript	ENST00000305513.12	protein_coding	5/10			chr17	TogoVar
SNED1_chr2_240993618_241100568	241036070	G G	GTTGGGGG others(46): Show GTTGGGGGGTGGAGGTGCGTCACGGGGTGGGGGCGCGTCACAGGGTGGGG GGGT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0005 a0006c0012t0005	a0006c0012t0005g0309 a0006c0012t0005g0309	1	344	0.0029	53	c.806 others(68): Show c.806-720_806-719insTTGGGGGGTGGAGGTGCGTCACGGGGTGGG GGCGCGTCACAGGGTGGGGGGGT	SNED1	ENSG00000162804.15	transcript	ENST00000310397.13	protein_coding	4/31			chr2	TogoVar
SNTG1_chr8_49906407_50801692	49938603	T T	TTTTTTCT others(46): Show TTTTTTCTTTTCTTTTTTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	106	0.0094	53	c.-10 others(74): Show c.-103+26375_-103+26376insTTCTTTTCTTTTTTTTCTTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTT	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNTG1_chr8_49906407_50801692	50779531	T T	TGTGATTT others(46): Show TGTGATTTTTGTACATTGATTTTGTATCCTGAGACTTTGCCGAAGTTGCT TATC	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA18906.hp1 NA20300.hp1 HG03139.hp1 NA18906.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0037 a0001c0001t0046 a0001c0001t0017 a0001c0001t0037 a0001c0001t0046	a0001c0001t0017g0057 a0001c0001t0037g0034 a0001c0001t0046g0104 a0001c0001t0017g0057 a0001c0001t0037g0034 a0001c0001t0046g0104	3	106	0.0283	53	c.139 others(74): Show c.1396-13139_1396-13087dupGTGATTTTTGTACATTGATTTTGT ATCCTGAGACTTTGCCGAAGTTGCTTATC	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNX9_chr6_157818246_157950077	157826849	T T	TATATATA others(46): Show TATATATAAATATATATTATAGTTTATATATAAATATATATTATAGTTTA TATA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	302	0.0033	53	c.12+ others(68): Show c.12+3432_12+3433insTAAATATATATTATAGTTTATATAATATAT AAATATATATTATAGTTTATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157827211	T T	TTATAGTT others(46): Show TTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATA AACA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0271 a0001c0003t0003g0271	1	302	0.0033	53	c.12+ others(68): Show c.12+3770_12+3822dupGTTTATATAATATATAAACATATATTATAG TTTATATAATATATAAACATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar

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Search Results (Total: 10000 hits)