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
SHC4_chr15_48818741_48968919	48907840	G G	GTGTGTGT others(31): Show GTGTGTGTGTGTATATATATATGTGTGTGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02273.hp2 NA18987.hp1 others(1): Show HG02165.hp2 HG02273.hp2 NA18987.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0179 a0001c0001t0001g0182 others(1): Show a0001c0001t0001g0161 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0224	4	384	0.0104	38	c.657 others(57): Show c.657-17030_657-17029insTATACACACACACACACATATATATA TACACACACACA		SHC4	ENSG00000185634.12	transcript	ENST00000332408.9	protein_coding	2/11						chr15	TogoVar
SHCBP1L_chr1_182894865_182958166	182899481	T T	TTTTACCT others(31): Show TTTTACCTCTCTTGTTATTGTTTTGGTATTGTTTACCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0110 a0004c0004t0001g0110	1	302	0.0033	38	c.50 others(47): Show c.501_*502insGAGGTAAACAATACCAAAACAATAACAAGAGAGGTA AA		SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding					383		chr1	TogoVar
SHISA9_chr16_12896598_13245416	13221858	T T	TTATATAT others(31): Show TTATATATTTGCCTGTTTTGGATATAGCTGTCTCATGTG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0062 a0001c0002t0062	a0001c0002t0062g0182 a0001c0002t0062g0182	1	214	0.0047	38	c.895 others(55): Show c.895+8559_895+8596dupTATATATTTGCCTGTTTTGGATATAGCT GTCTCATGTG		SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	4/4					INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISAL1_chr22_44238665_44317951	44261077	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02083.hp1 HG02896.hp1 others(4): Show HG00741.hp1 HG02083.hp1 HG02896.hp1 HG02897.hp1 HG03710.hp1 HG04228.hp2 NA19079.hp1	a0001 a0001	a0001c0047 a0001c0130 a0001c0158 others(4): Show a0001c0047 a0001c0130 a0001c0158 a0001c0189 a0001c0248 a0001c0249 a0001c0335	a0001c0047t0002 a0001c0130t0087 a0001c0158t0096 others(4): Show a0001c0047t0002 a0001c0130t0087 a0001c0158t0096 a0001c0189t0008 a0001c0248t0001 a0001c0249t0001 a0001c0335t0001	a0001c0047t0002g0161 a0001c0130t0087g0230 a0001c0158t0096g0142 others(4): Show a0001c0047t0002g0161 a0001c0130t0087g0230 a0001c0158t0096g0142 a0001c0189t0008g0170 a0001c0248t0001g0238 a0001c0249t0001g0239 a0001c0335t0001g0193	7	380	0.0184	38	c.600 others(57): Show c.600-11393_600-11392insTATATATATATATATATATATATATA TATATATATATA		SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	4/4						chr22	TogoVar
SHLD1_chr20_5745401_5869395	5764162	A A	ATATATAT others(31): Show ATATATATATATATATATTTTTTTATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0296 a0001c0001t0001g0021 a0001c0001t0001g0296	2	328	0.0061	38	c.-4- others(53): Show c.-4-8687_-4-8686insATATTTTTTTATATATATATATATTTATAT ATATATAT		SHLD1	ENSG00000171984.15	transcript	ENST00000303142.11	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr20	TogoVar
SHLD1_chr20_5745401_5869395	5764162	A A	ATATATAT others(31): Show ATATATATATATATATTTTTTTTTATATATATATATATT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	328	0.0031	38	c.-4- others(53): Show c.-4-8687_-4-8686insATTTTTTTTTATATATATATATATTTATAT ATATATAT		SHLD1	ENSG00000171984.15	transcript	ENST00000303142.11	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr20	TogoVar
SHOX2_chr3_158090905_158111420	158096909	T T	TATATATA others(31): Show TATATATATATATATATATATATATATGGCAAATATATG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02280.hp1 HG03516.hp2 HG02280.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0022 a0001c0001t0033g0022	2	380	0.0053	38	c.11 others(49): Show c.1117_*1118insCATATATTTGCCATATATATATATATATATATAT ATAT		SHOX2	ENSG00000168779.21	transcript	ENST00000483851.7	protein_coding	5/5				1117		chr3	TogoVar
SHOX2_chr3_158090905_158111420	158106571	C C	CAGAGAGA others(31): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0107 a0001c0001t0107	a0001c0001t0107g0148 a0001c0001t0107g0148	1	380	0.0026	38	c.-58 others(47): Show c.-585_-548dupCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CT		SHOX2	ENSG00000168779.21	transcript	ENST00000483851.7	protein_coding					152		chr3	TogoVar
SHPK_chr17_3603240_3641250	3635236	A A	AGGAAGGA others(31): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02970.hp2 HG02622.hp2 HG02970.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0004 a0001c0001t0001 a0003c0003t0004	a0001c0001t0001g0255 a0003c0003t0004g0254 a0001c0001t0001g0255 a0003c0003t0004g0254	2	382	0.0052	38	c.168 others(53): Show c.168+815_168+816insCTTCCTTCCTTCCCTTCCTTCCTTCCTTCC TTCCTTCC		SHPK	ENSG00000197417.9	transcript	ENST00000225519.5	protein_coding	1/6						chr17	TogoVar
SHPK_chr17_3603240_3641250	3635236	A A	AGGAAGGA others(31): Show AGGAAGGAAGGAAGGAAGGAAGGGAGGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00733.hp2 HG00639.hp2 HG00733.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0009 a0001c0001 a0008c0009	a0001c0001t0006 a0008c0009t0006 a0001c0001t0006 a0008c0009t0006	a0001c0001t0006g0355 a0008c0009t0006g0354 a0001c0001t0006g0355 a0008c0009t0006g0354	2	382	0.0052	38	c.168 others(53): Show c.168+815_168+816insCTTCCTTCCTTCCCTCCCTTCCTTCCTTCC TTCCTTCC		SHPK	ENSG00000197417.9	transcript	ENST00000225519.5	protein_coding	1/6						chr17	TogoVar
SHQ1_chr3_72744277_72853445	72765557	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0006 a0002c0002t0004g0006	1	222	0.0045	38	c.118 others(59): Show c.1182-14722_1182-14721insAAAAAAAAAAAATATATATATATA TATATATATATATA		SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding	10/10						chr3	TogoVar
SHROOM3_chr4_76430229_76788253	76646225	A A	AATAAATA others(31): Show AATAAATAAATAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01256.hp2 HG00735.hp1 HG01256.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0006c0013 a0002c0002 a0006c0013	a0002c0002t0001 a0006c0013t0001 a0002c0002t0001 a0006c0013t0001	a0002c0002t0001g0024 a0006c0013t0001g0007 a0002c0002t0001g0024 a0006c0013t0001g0007	2	218	0.0092	38	c.324 others(57): Show c.324-63928_324-63927insAATAAATAAATATATATATATATATA TATATATATATA		SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM3_chr4_76430229_76788253	76646225	A A	AATAAATA others(31): Show AATAAATAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03516.hp1 HG03486.hp1 HG03516.hp1	a0009 a0011 a0009 a0011	a0009c0011 a0011c0012 a0009c0011 a0011c0012	a0009c0011t0013 a0011c0012t0006 a0009c0011t0013 a0011c0012t0006	a0009c0011t0013g0031 a0011c0012t0006g0083 a0009c0011t0013g0031 a0011c0012t0006g0083	2	218	0.0092	38	c.324 others(57): Show c.324-63928_324-63927insAATAAATATATATATATATATATATA TATATATATATA		SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM3_chr4_76430229_76788253	76646225	A A	AATAAATA others(31): Show AATAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0164 a0002c0002t0001g0164	1	218	0.0046	38	c.324 others(57): Show c.324-63928_324-63927insAATATATATATATATATATATATATA TATATATATATA		SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM3_chr4_76430229_76788253	76681625	G G	GTGTGTGT others(31): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01175.hp2 HG01243.hp1 others(12): Show HG00735.hp1 HG01175.hp2 HG01243.hp1 HG01256.hp2 HG01928.hp1 HG02071.hp2 HG02615.hp1 HG02723.hp1 HG02976.hp1 HG03490.hp1 HG04115.hp1 HG04115.hp2 NA18906.hp1 NA18981.hp2 NA19084.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0006 a0012 a0017 a0023	a0001c0001 a0002c0002 a0003c0003 others(4): Show a0001c0001 a0002c0002 a0003c0003 a0006c0013 a0012c0010 a0017c0025 a0023c0027	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0019 a0001c0001t0021 a0002c0002t0001 a0002c0002t0003 a0003c0003t0001 a0006c0013t0001 a0012c0010t0015 a0017c0025t0006 a0023c0027t0001	a0001c0001t0001g0052 a0001c0001t0002g0090 a0001c0001t0002g0185 others(12): Show a0001c0001t0001g0052 a0001c0001t0002g0090 a0001c0001t0002g0185 a0001c0001t0008g0198 a0001c0001t0019g0188 a0001c0001t0021g0048 a0002c0002t0001g0024 a0002c0002t0001g0130 a0002c0002t0001g0172 a0002c0002t0003g0197 a0003c0003t0001g0096 a0006c0013t0001g0007 a0012c0010t0015g0035 a0017c0025t0006g0095 a0023c0027t0001g0126	15	218	0.0688	38	c.324 others(57): Show c.324-28522_324-28521insGTGTGTGTGTGTGTGTGTGTGTGTAT GTATGTGTGTGT		SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM3_chr4_76430229_76788253	76681625	G G	GTGTGTGT others(31): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0006 a0011c0012t0006	a0011c0012t0006g0043 a0011c0012t0006g0043	1	218	0.0046	38	c.324 others(57): Show c.324-28522_324-28521insGTGTGTGTGTGTGTGTGTGTGTGTGT GTATGTGTGTGT		SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
SIGIRR_chr11_400716_419999	401194	A A	ACCCCCCG others(31): Show ACCCCCCGCCCCCCCGCTCACACCCGCCCCGCTCACCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	242	0.0041	38	c.47 others(49): Show c.4701_*4702insGTGGTGAGCGGGGCGGGTGTGAGCGGGGGGGCGG GGGG		SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding					4521		chr11	TogoVar
SIGIRR_chr11_400716_419999	401948	G G	GCCCCGCT others(31): Show GCCCCGCTCACACCCGACCCGCTCACACCCGACCCGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0001 a0005c0013t0001	a0005c0013t0001g0146 a0005c0013t0001g0146	1	242	0.0041	38	c.39 others(49): Show c.3947_*3948insGAGCGGGTCGGGTGTGAGCGGGTCGGGTGTGAGC GGGG		SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding					3767		chr11	TogoVar
SIGIRR_chr11_400716_419999	402254	C C	CGCTCACA others(31): Show CGCTCACACCCGCCCCGCTCACCCGGGACCCCGCTCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	242	0.0041	38	c.36 others(49): Show c.3641_*3642insTGTGAGCGGGGTCCCGGGTGAGCGGGGCGGGTGT GAGC		SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding					3461		chr11	TogoVar
SIGIRR_chr11_400716_419999	402943	G G	GGCTCCGC others(31): Show GGCTCCGCTCACCCCCGACCCCCGGCTCCGCTCACCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	242	0.0041	38	c.29 others(49): Show c.2952_*2953insGGGGGTGAGCGGAGCCGGGGGTCGGGGGTGAGCG GAGC		SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding					2772		chr11	TogoVar
SIGIRR_chr11_400716_419999	410781	G G	GGGGGGGG others(31): Show GGGGGGGGTGCCCAGCTCTGAACATGTCTGGATACAGTC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0229 a0001c0004t0001g0229	1	242	0.0041	38	c.-15 others(55): Show c.-153-755_-153-754insGACTGTATCCAGACATGTTCAGAGCTGG GCACCCCCCC		SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9						chr11	TogoVar
SIGIRR_chr11_400716_419999	411191	G G	GGGGTGCC others(31): Show GGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	242	0.0041	38	c.-15 others(57): Show c.-153-1165_-153-1164insGCCCGACTGCATCCAGACATGGTCAG AGCTGGGCACCC		SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9						chr11	TogoVar
SIK3_chr11_116838402_117103428	117013901	G G	GGTGTGTG others(31): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGT	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0116 a0001c0001t0004g0116	1	366	0.0027	38	c.274 others(57): Show c.274-56838_274-56837insACATACACACACACACACACACACAC ACACACACACAC		SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24						chr11	TogoVar
SIK3_chr11_116838402_117103428	117020246	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG03486.hp1 NA21309.hp2 HG01123.hp1 HG03486.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0005 a0001c0002 a0003c0005	a0001c0002t0005 a0003c0005t0005 a0001c0002t0005 a0003c0005t0005	a0001c0002t0005g0027 a0003c0005t0005g0009 a0003c0005t0005g0020 a0001c0002t0005g0027 a0003c0005t0005g0009 a0003c0005t0005g0020	3	366	0.0082	38	c.274 others(57): Show c.274-63183_274-63182insGTGTATATATATATATATATATATAT ATATATATATAT		SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24						chr11	TogoVar
SIK3_chr11_116838402_117103428	117020246	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02129.hp1 HG02622.hp1 others(4): Show HG00609.hp2 HG02129.hp1 HG02622.hp1 NA18978.hp1 NA18986.hp2 NA19056.hp2 NA19088.hp1	a0001 a0016 a0001 a0016	a0001c0001 a0016c0015 a0001c0001 a0016c0015	a0001c0001t0002 a0001c0001t0004 a0016c0015t0002 a0001c0001t0002 a0001c0001t0004 a0016c0015t0002	a0001c0001t0002g0132 a0001c0001t0004g0046 a0001c0001t0004g0135 others(4): Show a0001c0001t0002g0132 a0001c0001t0004g0046 a0001c0001t0004g0135 a0001c0001t0004g0137 a0001c0001t0004g0147 a0001c0001t0004g0258 a0016c0015t0002g0106	7	366	0.0191	38	c.274 others(57): Show c.274-63183_274-63182insGTATATATATATATATATATATATAT ATATATATATAT		SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24						chr11	TogoVar
SIKE1_chr1_114764479_114785685	114776449	C C	CTCTCAAT others(31): Show CTCTCAATTTCCTGTGAAGATATTAAGGAAACAAAGGTG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA19003.hp1 NA19003.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0055 a0003c0004t0001g0055	1	358	0.0028	38	c.409 others(48): Show c.409-28_418dupCACCTTTGTTTCCTTAATATCTTCACAGGAAATTG AGA	p.Ser others(5): Show p.Ser140fs	SIKE1	ENSG00000052723.12	transcript	ENST00000060969.6	protein_coding	4/5	496/5494	418/624	140/207			chr1	TogoVar
SIL1_chr5_138941724_139203368	139155448	T T	TGAGAGAG others(31): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03239.hp2 HG02738.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0081 a0001c0001t0001g0044 a0001c0001t0001g0081	2	200	0.0100	38	c.-10 others(57): Show c.-10-27596_-10-27595insTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTC		SIL1	ENSG00000120725.13	transcript	ENST00000394817.7	protein_coding	1/9						chr5	TogoVar
SINHCAF_chr12_31275584_31331150	31328401	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAAAAAAAATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0030 a0001c0001t0004g0030	1	349	0.0029	38	c.-23 others(49): Show c.-2399_-2398insATATATATATATATATATTTTTTTTTTTTTTTTT TTTT		SINHCAF	ENSG00000139146.14	transcript	ENST00000337682.9	protein_coding					2252		chr12	TogoVar
SIPA1L2_chr1_232392965_232635133	232528102	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02280.hp1 NA18948.hp1 HG00735.hp2 HG02280.hp1 NA18948.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0017 a0001c0003 a0001c0005 a0001c0017	a0001c0003t0001 a0001c0005t0002 a0001c0017t0005 a0001c0003t0001 a0001c0005t0002 a0001c0017t0005	a0001c0003t0001g0119 a0001c0005t0002g0062 a0001c0017t0005g0073 a0001c0003t0001g0119 a0001c0005t0002g0062 a0001c0017t0005g0073	3	292	0.0103	38	c.-26 others(59): Show c.-269-12495_-269-12494insGATATATATATATATATATATATA TATATATATATATA		SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	2/22						chr1	TogoVar
SIRPG_chr20_1624152_1662779	1650002	G G	GTATATAT others(31): Show GTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0125 a0002c0002t0003g0125	1	396	0.0025	38	c.74- others(51): Show c.74-595_74-594insTATATATATATATATATATATATATATATATA TATATA		SIRPG	ENSG00000089012.14	transcript	ENST00000303415.7	protein_coding	1/5						chr20	TogoVar
SIT1_chr9_35644295_35655931	35647667	T T	TGAGAGAG others(31): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	434	0.0023	38	c.21 others(49): Show c.2180_*2181insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTC		SIT1	ENSG00000137078.10	transcript	ENST00000259608.8	protein_coding					1627		chr9	TogoVar
SIX5_chr19_45759785_45774252	45769834	G G	GTTGTTGG others(31): Show GTTGTTGGGGGTCCTGTAGCCTGTCAGCGAGTCGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0001 a0009c0013t0001	a0009c0013t0001g0025 a0009c0013t0001g0025	1	414	0.0024	38	c.-10 others(48): Show c.-1028_-991dupTCCTCCGACTCGCTGACAGGCTACAGGACCCCCAA CAA		SIX5	ENSG00000177045.11	transcript	ENST00000317578.7	protein_coding					583		chr19	TogoVar
SI_chr3_164973898_165083496	165065464	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA18989.hp2 HG02145.hp1 NA18989.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0001 a0006c0007t0003 a0001c0001t0001 a0006c0007t0003	a0001c0001t0001g0033 a0006c0007t0003g0154 a0001c0001t0001g0033 a0006c0007t0003g0154	2	266	0.0075	38	c.636 others(51): Show c.636-33_636-32insATATATATATATATATATATATATATATATAT ATATAT		SI	ENSG00000090402.8	transcript	ENST00000264382.8	protein_coding	6/47						chr3	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACACACA others(31): Show TACACACACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp1 NA18941.hp1 NA18947.hp2 others(2): Show HG02683.hp1 NA18941.hp1 NA18947.hp2 NA18950.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0090 a0001c0001t0001g0152 others(2): Show a0001c0001t0001g0043 a0001c0001t0001g0090 a0001c0001t0001g0152 a0001c0001t0001g0324 a0001c0001t0001g0348	5	360	0.0139	38	c.46 others(49): Show c.4672_*4709dupGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT		SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding					3161		chr20	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACATACA others(31): Show TACATACACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	360	0.0028	38	c.47 others(49): Show c.4709_*4710insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT ATGT		SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding					3161		chr20	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACATACA others(31): Show TACATACATACATACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01069.hp2 HG03688.hp1 others(1): Show HG00639.hp1 HG01069.hp2 HG03688.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0158 a0001c0001t0001g0208 others(1): Show a0001c0001t0001g0077 a0001c0001t0001g0158 a0001c0001t0001g0208 a0001c0001t0001g0245	4	360	0.0111	38	c.47 others(49): Show c.4709_*4710insGTGTGTGTGTGTGTGTGTGTGTGTGTATGTATGT ATGT		SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding					3161		chr20	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACATACA others(31): Show TACATACATACATATACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG01255.hp1 HG01993.hp2 others(8): Show HG00741.hp1 HG01255.hp1 HG01993.hp2 HG02145.hp1 HG02293.hp2 HG02523.hp2 HG02723.hp2 HG02970.hp1 HG03834.hp1 HG04115.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0079 a0001c0001t0001g0181 a0001c0001t0001g0196 others(8): Show a0001c0001t0001g0079 a0001c0001t0001g0181 a0001c0001t0001g0196 a0001c0001t0001g0220 a0001c0001t0001g0263 a0001c0001t0001g0294 a0001c0001t0001g0308 a0001c0001t0001g0313 a0001c0001t0001g0343 a0001c0001t0001g0352 a0001c0001t0002g0209	11	360	0.0306	38	c.47 others(49): Show c.4709_*4710insGTGTGTGTGTGTGTGTGTGTGTGTATATGTATGT ATGT		SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding					3161		chr20	TogoVar
SLA2_chr20_36607318_36651196	36609256	C C	CACACACA others(31): Show CACACACACACACACACACACACACACACACACACACTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	360	0.0028	38	c.46 others(49): Show c.4609_*4610insTAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT		SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding					3061		chr20	TogoVar
SLAIN1_chr13_77692687_77769229	77704251	T T	TGTTTTAT others(31): Show TGTTTTATATGTATATATATACATAGAAAATATATATAC	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0247 a0001c0001t0002g0247	1	300	0.0033	38	c.626 others(55): Show c.626+5712_626+5713insGTTTTATATGTATATATATACATAGAAA ATATATATAC		SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6						chr13	TogoVar
SLAIN1_chr13_77692687_77769229	77704358	G G	GTATATAC others(31): Show GTATATACAGAGGTTTTATATGTATATATACATAGAAAC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	300	0.0033	38	c.626 others(55): Show c.626+5821_626+5858dupATATACAGAGGTTTTATATGTATATATA CATAGAAACT		SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr13	TogoVar
SLAIN1_chr13_77692687_77769229	77704398	G G	GTATATAC others(31): Show GTATATACAGAGGTTTTATATGTATATATACATAGAAAC	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG03209.hp1 HG02897.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0067 a0001c0001t0002g0006 a0001c0001t0002g0067	2	300	0.0067	38	c.626 others(55): Show c.626+5861_626+5898dupATATACAGAGGTTTTATATGTATATATA CATAGAAACT		SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr13	TogoVar
SLAIN1_chr13_77692687_77769229	77704398	G G	GTATATAC others(31): Show GTATATACATAGGTTTTATATGTATATATACATAGAAAC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	300	0.0033	38	c.626 others(55): Show c.626+5867_626+5868insTAGGTTTTATATGTATATATACATAGAA ACTATATACA		SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr13	TogoVar
SLAIN1_chr13_77692687_77769229	77704438	G G	GTATATAC others(31): Show GTATATACAGAGGTTTTATATGTATATATACATAGAAAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00544.hp1 others(40): Show HG00408.hp1 HG00423.hp1 HG00544.hp1 HG00639.hp2 HG01099.hp2 HG01109.hp1 HG01168.hp1 HG01243.hp2 HG01433.hp1 HG01515.hp1 HG01928.hp1 HG02083.hp2 HG02135.hp1 HG02148.hp1 HG02300.hp1 HG02698.hp2 HG02735.hp1 HG02897.hp1 HG03490.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18947.hp1 NA18951.hp1 NA18953.hp2 NA18956.hp2 NA18959.hp1 NA18966.hp1 NA18969.hp2 NA18971.hp1 NA18974.hp2 NA18979.hp1 NA18995.hp2 NA19002.hp1 NA19054.hp2 NA19062.hp2 NA19066.hp1 NA19077.hp2 NA19088.hp2 NA19090.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0003c0006t0001 a0001c0001t0001 a0001c0001t0002 a0003c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(36): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0022 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0110 a0001c0001t0001g0283 a0001c0001t0002g0046 a0003c0006t0001g0052	43	300	0.1433	38	c.626 others(55): Show c.626+5901_626+5938dupATATACAGAGGTTTTATATGTATATATA CATAGAAACT		SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr13	TogoVar
SLAIN1_chr13_77692687_77769229	77704678	G G	GTATATAC others(31): Show GTATATACAGAGGTTTTATATGTATATATACATAGAAAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01069.hp2 HG01071.hp2 others(3): Show HG00280.hp1 HG01069.hp2 HG01071.hp2 HG01256.hp2 HG01258.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0236 a0001c0001t0001g0237 others(2): Show a0001c0001t0001g0015 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239	6	300	0.0200	38	c.626 others(55): Show c.626+6141_626+6178dupATATACAGAGGTTTTATATGTATATATA CATAGAAACT		SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr13	TogoVar
SLC10A6_chr4_86818468_86854384	86837312	A A	AGGAAGGG others(31): Show AGGAAGGGAGGGAGGGAGGGAGGAAGAGGAAGGAAGTAG	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	350	0.0029	38	c.378 others(55): Show c.378-3889_378-3888insCTACTTCCTTCCTCTTCCTCCCTCCCTC CCTCCCTTCC		SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5						chr4	TogoVar
SLC10A6_chr4_86818468_86854384	86837316	A A	AGGAAGGG others(31): Show AGGAAGGGAGGGAGGGAGGGAGGAAGAGGAAGGAAGTAG	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	350	0.0029	38	c.378 others(55): Show c.378-3893_378-3892insCTACTTCCTTCCTCTTCCTCCCTCCCTC CCTCCCTTCC		SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5						chr4	TogoVar
SLC10A6_chr4_86818468_86854384	86837320	A A	AGGAAGGG others(31): Show AGGAAGGGAGGGAGGGAGGGAGGAAGAGGAAGGAAGTAG	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	350	0.0029	38	c.378 others(55): Show c.378-3897_378-3896insCTACTTCCTTCCTCTTCCTCCCTCCCTC CCTCCCTTCC		SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5						chr4	TogoVar
SLC12A2_chr5_128078766_128194677	128126966	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATAATTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02074.hp1 NA18968.hp2 others(1): Show HG01261.hp2 HG02074.hp1 NA18968.hp2 NA19087.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0006c0010 a0001c0002 a0006c0010	a0001c0002t0001 a0006c0010t0001 a0001c0002t0001 a0006c0010t0001	a0001c0002t0001g0010 a0001c0002t0001g0132 a0001c0002t0001g0160 others(1): Show a0001c0002t0001g0010 a0001c0002t0001g0132 a0001c0002t0001g0160 a0006c0010t0001g0129	4	354	0.0113	38	c.104 others(57): Show c.1049-4100_1049-4099insATATATATATATATATATATATATAT ATATAATTTTTT		SLC12A2	ENSG00000064651.14	transcript	ENST00000262461.7	protein_coding	4/26					INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC14A2_chr18_45610476_45688688	45645622	T T	TATACATA others(31): Show TATACATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01081.hp1 HG01099.hp2 others(10): Show HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01192.hp2 HG01952.hp2 HG01981.hp2 HG01993.hp1 HG02273.hp1 HG02559.hp2 HG02735.hp1 HG03516.hp2 NA19083.hp2	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0005	a0002c0001 a0003c0006 a0004c0003 others(1): Show a0002c0001 a0003c0006 a0004c0003 a0005c0010	a0002c0001t0005 a0003c0006t0002 a0004c0003t0001 others(2): Show a0002c0001t0005 a0003c0006t0002 a0004c0003t0001 a0005c0010t0003 a0005c0010t0014	a0002c0001t0005g0365 a0002c0001t0005g0368 a0003c0006t0002g0030 others(10): Show a0002c0001t0005g0365 a0002c0001t0005g0368 a0003c0006t0002g0030 a0003c0006t0002g0151 a0003c0006t0002g0257 a0003c0006t0002g0342 a0004c0003t0001g0168 a0004c0003t0001g0354 a0004c0003t0001g0366 a0004c0003t0001g0367 a0004c0003t0001g0372 a0005c0010t0003g0101 a0005c0010t0014g0016	13	402	0.0323	38	c.135 others(57): Show c.1351+1463_1351+1464insTACATATATATATATATATATATATA TATATATATACA		SLC14A2	ENSG00000132874.15	transcript	ENST00000255226.11	protein_coding	10/19					INFO_REALIGN_3_PRIME	chr18	TogoVar
SLC16A2_chrX_74416493_74538916	74439186	T T	TTCTTTCT others(31): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02809.hp1 NA20300.hp1 HG01081.hp2 HG02809.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0006 a0002c0002t0001 a0001c0001t0001 a0001c0001t0006 a0002c0002t0001	a0001c0001t0001g0179 a0001c0001t0006g0083 a0002c0002t0001g0064 a0001c0001t0001g0179 a0001c0001t0006g0083 a0002c0002t0001g0064	3	235	0.0128	38	c.430 others(57): Show c.430+17120_430+17121insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCT		SLC16A2	ENSG00000147100.11	transcript	ENST00000587091.6	protein_coding	1/5					INFO_REALIGN_3_PRIME	chrX	TogoVar

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