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
SHISA7_chr19_55423740_55448300	55443689	A A	AGATGTTT others(12): Show AGATGTTTCCAGGCATTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	372	0.0027	19	c.-82 others(28): Show c.-827_-826insGGCAATGCCTGGAAACATC	SHISA7	ENSG00000187902.13	transcript	ENST00000376325.10	protein_coding		390		chr19	TogoVar
SHISA9_chr16_12896598_13245416	13004954	A A	AAAGAAAA others(12): Show AAAGAAAAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00738.hp1 HG01167.hp1 others(19): Show HG00544.hp2 HG00738.hp1 HG01167.hp1 HG01255.hp2 HG01261.hp2 HG01433.hp1 HG01993.hp2 HG02015.hp2 HG02083.hp1 HG02129.hp2 HG02165.hp1 HG02300.hp2 HG02523.hp1 HG02738.hp2 HG03017.hp2 HG03492.hp2 HG03669.hp1 NA18967.hp1 NA18970.hp1 NA18979.hp2 NA19007.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0018 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0043 a0001c0001t0047 a0001c0001t0071 a0001c0001t0077 a0001c0001t0079 a0001c0001t0084 a0001c0001t0094 a0001c0003t0008	a0001c0001t0001g0031 a0001c0001t0001g0069 a0001c0001t0001g0199 others(19): Show a0001c0001t0001g0031 a0001c0001t0001g0069 a0001c0001t0001g0199 a0001c0001t0001g0208 a0001c0001t0002g0003 a0001c0001t0002g0167 a0001c0001t0002g0213 a0001c0001t0003g0180 a0001c0001t0003g0204 a0001c0001t0018g0141 a0001c0001t0025g0010 a0001c0001t0026g0146 a0001c0001t0028g0172 a0001c0001t0029g0001 a0001c0001t0043g0030 a0001c0001t0047g0174 a0001c0001t0071g0007 a0001c0001t0077g0198 a0001c0001t0079g0164 a0001c0001t0084g0151 a0001c0001t0094g0101 a0001c0003t0008g0002	22	214	0.1028	19	c.691 others(38): Show c.691+88141_691+88142insGAAAAAAAGAAAGAAAGAA	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13071600	C C	CCTTCCTT others(12): Show CCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0057 a0001c0001t0048g0057	1	214	0.0047	19	c.692 others(40): Show c.692-131793_692-131792insTTCCTTCCTTCCTTCCTTC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13143015	T T	TTTTATTT others(12): Show TTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0112 a0001c0001t0064g0112	1	214	0.0047	19	c.692 others(38): Show c.692-60370_692-60369insTTTTATTTTATTTATTTTA	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISAL1_chr22_44238665_44317951	44241646	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0224 a0001c0224	a0001c0224t0010 a0001c0224t0010	a0001c0224t0010g0243 a0001c0224t0010g0243	1	380	0.0026	19	c.80 others(30): Show c.8038_*8039insAAAAAAAAAAAAAAAAAAA	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding		2018		chr22	TogoVar
SHLD1_chr20_5745401_5869395	5775923	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0032 a0002c0004t0001g0032	1	328	0.0031	19	c.178 others(36): Show c.178+2884_178+2902dupTTTTTTTTTTTTTTTTTTT	SHLD1	ENSG00000171984.15	transcript	ENST00000303142.11	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
SHLD1_chr20_5745401_5869395	5778214	T T	TCACGCCA others(12): Show TCACGCCATTCTCCTGCGTC	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18951.hp2 NA18966.hp2 others(2): Show NA18943.hp1 NA18951.hp2 NA18966.hp2 NA19080.hp1 NA20300.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0001 a0002c0003t0003 a0002c0003t0004 others(1): Show a0002c0003t0001 a0002c0003t0003 a0002c0003t0004 a0002c0004t0002	a0002c0003t0001g0019 a0002c0003t0001g0046 a0002c0003t0003g0048 others(2): Show a0002c0003t0001g0019 a0002c0003t0001g0046 a0002c0003t0003g0048 a0002c0003t0004g0144 a0002c0004t0002g0017	5	328	0.0152	19	c.178 others(36): Show c.178+5172_178+5190dupCACGCCATTCTCCTGCGTC	SHLD1	ENSG00000171984.15	transcript	ENST00000303142.11	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
SHLD3_chr5_65620027_65635928	65627131	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	406	0.0025	19	c.-12 others(38): Show c.-121+2033_-121+2051dupAAAAAAAAAAAAAAAAAAA	SHLD3	ENSG00000253251.3	transcript	ENST00000510585.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr5	TogoVar
SHOX2_chr3_158090905_158111420	158106620	A A	AGAGAGAG others(12): Show AGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 NA19084.hp1 HG02027.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0078 a0001c0001t0039 a0001c0001t0078	a0001c0001t0039g0098 a0001c0001t0078g0117 a0001c0001t0039g0098 a0001c0001t0078g0117	2	380	0.0053	19	c.-59 others(28): Show c.-597_-596insCTCTCTCTCTCTCTCTCTC	SHOX2	ENSG00000168779.21	transcript	ENST00000483851.7	protein_coding		201		chr3	TogoVar
SHOX_chrX_625791_656584	626577	G G	GTCTCTGT others(12): Show GTCTCTGTCTCTCTCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp1 HG02922.hp1 HG03486.hp2 HG02897.hp1 HG02922.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0166 a0001c0001t0181 a0001c0001t0016 a0001c0001t0166 a0001c0001t0181	a0001c0001t0016g0069 a0001c0001t0166g0077 a0001c0001t0181g0120 a0001c0001t0016g0069 a0001c0001t0166g0077 a0001c0001t0181g0120	3	220	0.0136	19	c.-43 others(30): Show c.-4321_-4320insTCTCTGTCTCTCTCTCTCC	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		4213		chrX	TogoVar
SHOX_chrX_625791_656584	636970	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0181 a0001c0001t0181	a0001c0001t0181g0120 a0001c0001t0181g0120	1	220	0.0046	19	c.486 others(36): Show c.486+2145_486+2146insATATATATATATATATATT	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding	2/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
SHPK_chr17_3603240_3641250	3635245	G G	GGAAGGAA others(12): Show GGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0091 a0001c0001t0007g0091	1	382	0.0026	19	c.168 others(34): Show c.168+806_168+807insTTCCTTCCTTCCTTCCTTC	SHPK	ENSG00000197417.9	transcript	ENST00000225519.5	protein_coding	1/6			chr17	TogoVar
SHQ1_chr3_72744277_72853445	72765558	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	222	0.0045	19	c.118 others(40): Show c.1182-14723_1182-14722insTATATATATATATATATAT	SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding	10/10			chr3	TogoVar
SHROOM2_chrX_9781429_9954443	9875080	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02683.hp1 homoSapiens_chm13v2.hp1 HG01515.hp1 HG02683.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0096 a0001c0001t0001g0195 a0002c0002t0002g0231 a0001c0001t0001g0096 a0001c0001t0001g0195 a0002c0002t0002g0231	3	256	0.0117	19	c.317 others(36): Show c.317+1289_317+1307dupAAAAAAAAAAAAAAAAAAA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SHROOM3_chr4_76430229_76788253	76727887	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01175.hp1 HG01891.hp2 others(3): Show HG00735.hp2 HG01175.hp1 HG01891.hp2 HG02258.hp1 HG02559.hp2 HG03516.hp1	a0005 a0008 a0009 others(1): Show a0005 a0008 a0009 a0010	a0005c0038 a0008c0007 a0009c0011 others(1): Show a0005c0038 a0008c0007 a0009c0011 a0010c0009	a0005c0038t0004 a0008c0007t0007 a0009c0011t0002 others(3): Show a0005c0038t0004 a0008c0007t0007 a0009c0011t0002 a0009c0011t0013 a0009c0011t0034 a0010c0009t0001	a0005c0038t0004g0143 a0008c0007t0007g0137 a0009c0011t0002g0045 others(3): Show a0005c0038t0004g0143 a0008c0007t0007g0137 a0009c0011t0002g0045 a0009c0011t0013g0031 a0009c0011t0034g0144 a0010c0009t0001g0005	6	218	0.0275	19	c.456 others(36): Show c.456-2908_456-2907insAAAAAAAAAAAAAAAAAAA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM3_chr4_76430229_76788253	76735868	A A	AAAAATAT others(12): Show AAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp2 HG02451.hp1 HG02451.hp2	a0002 a0002	a0002c0002 a0002c0020 a0002c0002 a0002c0020	a0002c0002t0001 a0002c0020t0001 a0002c0002t0001 a0002c0020t0001	a0002c0002t0001g0015 a0002c0020t0001g0058 a0002c0002t0001g0015 a0002c0020t0001g0058	2	218	0.0092	19	c.588 others(36): Show c.588-2892_588-2891insAAATATATATATATATATA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM3_chr4_76430229_76788253	76735868	A A	AAATATAT others(12): Show AAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0180 a0002c0002t0001g0180	1	218	0.0046	19	c.588 others(36): Show c.588-2892_588-2891insATATATATATATATATATA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SIAE_chr11_124628113_124678739	124644351	G G	GAAAAAAA others(12): Show GAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0011 a0001c0005t0011	a0001c0005t0011g0204 a0001c0005t0011g0204	1	290	0.0035	19	c.966 others(36): Show c.966+3013_966+3014insTTTTTTTTTTTTTTTTTTT	SIAE	ENSG00000110013.13	transcript	ENST00000263593.8	protein_coding	7/9			chr11	TogoVar
SIAH3_chr13_45772242_45856753	45822520	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01361.hp1 NA20805.hp1 HG01123.hp1 HG01361.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0068 a0001c0001t0104 a0001c0001t0008 a0001c0001t0068 a0001c0001t0104	a0001c0001t0008g0339 a0001c0001t0068g0128 a0001c0001t0104g0086 a0001c0001t0008g0339 a0001c0001t0068g0128 a0001c0001t0104g0086	3	364	0.0082	19	c.135 others(38): Show c.135+28974_135+28975insATATATATATATATATATA	SIAH3	ENSG00000215475.5	transcript	ENST00000400405.4	protein_coding	1/1			chr13	TogoVar
SIDT2_chr11_117173743_117202442	117195085	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0214 a0001c0001t0006g0214	1	430	0.0023	19	c.232 others(36): Show c.2323-706_2323-688dupAAAAAAAAAAAAAAAAAAA	SIDT2	ENSG00000149577.17	transcript	ENST00000324225.9	protein_coding	24/25		INFO_REALIGN_3_PRIME	chr11	TogoVar
SIGIRR_chr11_400716_419999	401321	G G	GGCCCCGC others(12): Show GGCCCCGCTCACCCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	242	0.0041	19	c.45 others(30): Show c.4574_*4575insGGCCGGGGGTGAGCGGGGC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4394		chr11	TogoVar
SIGLEC12_chr19_51486227_51506800	51486710	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0023 a0001c0003t0001g0023	1	432	0.0023	19	c.49 others(30): Show c.4930_*4931insAAAAAAAAAAAAAAAAAAA	SIGLEC12	ENSG00000254521.7	transcript	ENST00000291707.8	protein_coding		4516		chr19	TogoVar
SIGLEC1_chr20_3681970_3717600	3690824	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03453.hp2 HG02572.hp2 HG03453.hp2	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0001 a0003c0014t0001	a0003c0014t0001g0113 a0003c0014t0001g0115 a0003c0014t0001g0113 a0003c0014t0001g0115	2	428	0.0047	19	c.459 others(36): Show c.4591+515_4591+516insAAAAAAAAAAAAAAAAAAA	SIGLEC1	ENSG00000088827.14	transcript	ENST00000344754.6	protein_coding	18/21			chr20	TogoVar
SIGLEC5_chr19_51605960_51635401	51612090	A A	ATCATCTG others(12): Show ATCATCTGTTTTCTTTCTGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(406): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(24): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027	a0001c0001 a0001c0006 a0001c0009 others(55): Show a0001c0001 a0001c0006 a0001c0009 a0001c0022 a0001c0040 a0001c0044 a0001c0047 a0002c0002 a0002c0005 a0002c0013 a0002c0026 a0002c0042 a0002c0050 a0002c0052 a0003c0004 a0003c0038 a0003c0049 a0004c0003 a0004c0034 a0005c0008 a0005c0014 a0005c0015 a0005c0024 a0005c0028 a0005c0055 a0005c0056 a0005c0057 a0006c0007 a0006c0011 a0006c0045 a0007c0012 a0007c0018 a0007c0046 a0008c0010 a0008c0036 a0009c0016 a0009c0029 a0009c0031 a0010c0020 a0010c0035 a0011c0017 a0012c0019 a0013c0023 a0014c0021 a0015c0025 a0016c0027 a0017c0048 a0017c0053 a0018c0030 a0019c0033 a0020c0054 a0021c0041 a0022c0051 a0023c0039 a0024c0043 a0025c0037 a0026c0032 a0027c0058	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(80): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0020 a0001c0001t0021 a0001c0006t0002 a0001c0006t0013 a0001c0009t0007 a0001c0022t0001 a0001c0040t0016 a0001c0044t0001 a0001c0047t0004 a0002c0002t0001 a0002c0002t0022 a0002c0005t0001 a0002c0005t0006 a0002c0005t0010 a0002c0013t0001 a0002c0013t0006 a0002c0013t0019 a0002c0026t0001 a0002c0042t0001 a0002c0050t0001 a0002c0052t0001 a0003c0004t0001 a0003c0004t0004 a0003c0004t0011 a0003c0004t0018 a0003c0038t0001 a0003c0049t0001 a0004c0003t0001 a0004c0034t0001 a0005c0008t0003 a0005c0014t0003 a0005c0014t0009 a0005c0014t0014 a0005c0015t0003 a0005c0015t0009 a0005c0024t0003 a0005c0028t0003 a0005c0028t0023 a0005c0055t0014 a0005c0056t0024 a0005c0057t0003 a0006c0007t0001 a0006c0007t0004 a0006c0007t0013 a0006c0011t0001 a0006c0011t0015 a0006c0045t0001 a0007c0012t0001 a0007c0012t0017 a0007c0018t0001 a0007c0046t0001 a0008c0010t0001 a0008c0036t0005 a0009c0016t0003 a0009c0029t0003 a0009c0031t0003 a0010c0020t0001 a0010c0020t0011 a0010c0035t0001 a0011c0017t0001 a0011c0017t0006 a0012c0019t0003 a0013c0023t0006 a0013c0023t0012 a0014c0021t0001 a0015c0025t0001 a0016c0027t0001 a0017c0048t0012 a0017c0053t0002 a0018c0030t0003 a0019c0033t0001 a0020c0054t0001 a0021c0041t0002 a0022c0051t0001 a0023c0039t0001 a0024c0043t0001 a0025c0037t0001 a0026c0032t0001 a0027c0058t0003	a0001c0001t0001g0039 a0001c0001t0001g0123 a0001c0001t0001g0135 others(315): Show a0001c0001t0001g0039 a0001c0001t0001g0123 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0247 a0001c0001t0001g0263 a0001c0001t0001g0284 a0001c0001t0001g0303 a0001c0001t0002g0008 a0001c0001t0002g0016 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0004g0015 a0001c0001t0004g0017 a0001c0001t0004g0040 a0001c0001t0004g0042 a0001c0001t0004g0248 a0001c0001t0004g0252 a0001c0001t0004g0253 a0001c0001t0004g0254 a0001c0001t0004g0256 a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0004g0259 a0001c0001t0004g0261 a0001c0001t0004g0262 a0001c0001t0005g0005 a0001c0001t0005g0013 a0001c0001t0005g0030 a0001c0001t0005g0183 a0001c0001t0005g0184 a0001c0001t0005g0186 a0001c0001t0005g0187 a0001c0001t0005g0188 a0001c0001t0005g0189 a0001c0001t0005g0190 a0001c0001t0005g0191 a0001c0001t0005g0192 a0001c0001t0005g0193 a0001c0001t0005g0194 a0001c0001t0005g0196 a0001c0001t0005g0197 a0001c0001t0005g0206 a0001c0001t0020g0185 a0001c0001t0021g0321 a0001c0006t0002g0028 a0001c0006t0002g0031 a0001c0006t0002g0032 a0001c0006t0002g0166 a0001c0006t0002g0167 a0001c0006t0002g0168 a0001c0006t0002g0181 a0001c0006t0002g0182 a0001c0006t0002g0203 a0001c0006t0002g0204 a0001c0006t0002g0205 a0001c0006t0002g0242 a0001c0006t0002g0278 a0001c0006t0002g0279 a0001c0006t0013g0320 a0001c0009t0007g0009 a0001c0009t0007g0049 a0001c0009t0007g0317 a0001c0009t0007g0318 a0001c0022t0001g0025 a0001c0022t0001g0170 a0001c0040t0016g0132 a0001c0044t0001g0295 a0001c0047t0004g0246 a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0007 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0024 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0169 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0207 a0002c0002t0022g0088 a0002c0005t0001g0038 a0002c0005t0001g0195 a0002c0005t0001g0226 a0002c0005t0001g0227 a0002c0005t0001g0230 a0002c0005t0001g0232 a0002c0005t0001g0233 a0002c0005t0001g0234 a0002c0005t0001g0241 a0002c0005t0001g0294 a0002c0005t0006g0014 a0002c0005t0006g0229 a0002c0005t0006g0231 a0002c0005t0006g0240 a0002c0005t0010g0043 a0002c0013t0001g0029 a0002c0013t0006g0266 a0002c0013t0006g0274 a0002c0013t0006g0275 a0002c0013t0019g0202 a0002c0026t0001g0312 a0002c0026t0001g0315 a0002c0042t0001g0228 a0002c0050t0001g0225 a0002c0052t0001g0224 a0003c0004t0001g0006 a0003c0004t0001g0033 a0003c0004t0001g0034 a0003c0004t0001g0035 a0003c0004t0001g0037 a0003c0004t0001g0126 a0003c0004t0001g0208 a0003c0004t0001g0209 a0003c0004t0001g0211 a0003c0004t0001g0212 a0003c0004t0001g0213 a0003c0004t0001g0214 a0003c0004t0001g0216 a0003c0004t0001g0222 a0003c0004t0001g0223 a0003c0004t0001g0267 a0003c0004t0001g0276 a0003c0004t0001g0277 a0003c0004t0004g0036 a0003c0004t0004g0219 a0003c0004t0004g0220 a0003c0004t0004g0221 a0003c0004t0011g0215 a0003c0004t0018g0210 a0003c0038t0001g0179 a0003c0049t0001g0124 a0004c0003t0001g0002 a0004c0003t0001g0003 a0004c0003t0001g0022 a0004c0003t0001g0023 a0004c0003t0001g0091 a0004c0003t0001g0093 a0004c0003t0001g0095 a0004c0003t0001g0099 a0004c0003t0001g0100 a0004c0003t0001g0101 a0004c0003t0001g0102 a0004c0003t0001g0103 a0004c0003t0001g0104 a0004c0003t0001g0105 a0004c0003t0001g0106 a0004c0003t0001g0107 a0004c0003t0001g0108 a0004c0003t0001g0109 a0004c0034t0001g0094 a0005c0008t0003g0020 a0005c0008t0003g0021 a0005c0008t0003g0065 a0005c0008t0003g0066 a0005c0008t0003g0068 a0005c0008t0003g0069 a0005c0008t0003g0070 a0005c0008t0003g0071 a0005c0008t0003g0072 a0005c0008t0003g0073 a0005c0008t0003g0074 a0005c0008t0003g0075 a0005c0014t0003g0081 a0005c0014t0003g0083 a0005c0014t0003g0084 a0005c0014t0003g0086 a0005c0014t0009g0064 a0005c0014t0014g0085 a0005c0015t0003g0059 a0005c0015t0003g0060 a0005c0015t0009g0067 a0005c0015t0009g0078 a0005c0015t0009g0080 a0005c0024t0003g0061 a0005c0024t0003g0062 a0005c0024t0003g0079 a0005c0028t0003g0077 a0005c0028t0023g0076 a0005c0055t0014g0063 a0005c0056t0024g0082 a0005c0057t0003g0058 a0006c0007t0001g0046 a0006c0007t0001g0245 a0006c0007t0001g0286 a0006c0007t0001g0287 a0006c0007t0001g0289 a0006c0007t0001g0290 a0006c0007t0001g0291 a0006c0007t0001g0293 a0006c0007t0001g0296 a0006c0007t0001g0297 a0006c0007t0001g0298 a0006c0007t0001g0299 a0006c0007t0001g0300 a0006c0007t0001g0301 a0006c0007t0004g0288 a0006c0007t0013g0322 a0006c0011t0001g0047 a0006c0011t0001g0243 a0006c0011t0001g0244 a0006c0011t0001g0313 a0006c0011t0001g0314 a0006c0011t0015g0089 a0006c0045t0001g0285 a0007c0012t0001g0302 a0007c0012t0001g0304 a0007c0012t0001g0305 a0007c0012t0001g0306 a0007c0012t0001g0308 a0007c0012t0001g0311 a0007c0012t0017g0309 a0007c0018t0001g0018 a0007c0018t0001g0310 a0007c0046t0001g0307 a0008c0010t0001g0111 a0008c0010t0001g0112 a0008c0010t0001g0113 a0008c0010t0001g0114 a0008c0010t0001g0115 a0008c0010t0001g0118 a0008c0010t0001g0119 a0008c0036t0005g0120 a0009c0016t0003g0019 a0009c0016t0003g0050 a0009c0016t0003g0052 a0009c0029t0003g0051 a0009c0031t0003g0053 a0010c0020t0001g0096 a0010c0020t0001g0098 a0010c0020t0011g0097 a0010c0035t0001g0110 a0011c0017t0001g0292 a0011c0017t0006g0281 a0011c0017t0006g0282 a0011c0017t0006g0283 a0012c0019t0003g0054 a0012c0019t0003g0055 a0013c0023t0006g0163 a0013c0023t0006g0165 a0013c0023t0012g0164 a0014c0021t0001g0116 a0014c0021t0001g0117 a0014c0021t0001g0121 a0015c0025t0001g0217 a0015c0025t0001g0218 a0016c0027t0001g0048 a0017c0048t0012g0316 a0017c0053t0002g0125 a0018c0030t0003g0057 a0019c0033t0001g0092 a0020c0054t0001g0319 a0021c0041t0002g0180 a0022c0051t0001g0280 a0023c0039t0001g0150 a0024c0043t0001g0239 a0025c0037t0001g0122 a0026c0032t0001g0090 a0027c0058t0003g0087	409	414	0.9879	19	c.14 others(28): Show c.140_*141insGCAGAAAGAAAACAGATGA	SIGLEC5	ENSG00000268500.7	transcript	ENST00000683636.1	protein_coding	9/9	140		chr19	TogoVar
SIK3_chr11_116838402_117103428	116947569	A A	ATGTATGT others(12): Show ATGTATGTATGTATGTATTT	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18965.hp2 NA19081.hp1 NA18962.hp1 NA18965.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0110 a0001c0001t0002g0357 a0001c0001t0002g0074 a0001c0001t0002g0110 a0001c0001t0002g0357	3	366	0.0082	19	c.454 others(36): Show c.454+6474_454+6475insAAATACATACATACATACA	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	3/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117013915	G G	GGGGGAGG others(12): Show GGGGGAGGGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02055.hp2 HG03579.hp1 HG00642.hp2 HG02055.hp2 HG03579.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0013 a0006c0008 a0001c0001 a0001c0013 a0006c0008	a0001c0001t0002 a0001c0013t0002 a0006c0008t0013 a0001c0001t0002 a0001c0013t0002 a0006c0008t0013	a0001c0001t0002g0282 a0001c0013t0002g0280 a0006c0008t0013g0274 a0001c0001t0002g0282 a0001c0013t0002g0280 a0006c0008t0013g0274	3	366	0.0082	19	c.274 others(38): Show c.274-56852_274-56851insACACACACACACCCTCCCC	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117021928	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18999.hp2 HG02083.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0231 a0001c0001t0001g0213 a0001c0001t0001g0231	2	366	0.0055	19	c.274 others(38): Show c.274-64883_274-64865dupTTTTTTTTTTTTTTTTTTT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIL1_chr5_138941724_139203368	139057314	T T	TTAAAAAA others(12): Show TTAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02622.hp2 HG03486.hp2 others(3): Show HG01516.hp2 HG02622.hp2 HG03486.hp2 NA19011.hp1 NA20129.hp2 NA21309.hp2	a0001 a0005 a0009 a0001 a0005 a0009	a0001c0001 a0001c0002 a0005c0012 others(1): Show a0001c0001 a0001c0002 a0005c0012 a0009c0013	a0001c0001t0001 a0001c0002t0001 a0005c0012t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0005c0012t0001 a0009c0013t0001	a0001c0001t0001g0024 a0001c0001t0001g0046 a0001c0001t0001g0191 others(3): Show a0001c0001t0001g0024 a0001c0001t0001g0046 a0001c0001t0001g0191 a0001c0002t0001g0025 a0005c0012t0001g0095 a0009c0013t0001g0045	6	200	0.0300	19	c.245 others(36): Show c.245-6269_245-6268insTTTTTTTTTTTTTTTTTTA	SIL1	ENSG00000120725.13	transcript	ENST00000394817.7	protein_coding	3/9			chr5	TogoVar
SIM1_chr6_100380009_100469921	100402565	C C	CTTTTCTC others(12): Show CTTTTCTCTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02135.hp2 NA18998.hp1 HG01192.hp2 HG02135.hp2 NA18998.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0066 a0002c0002t0001 a0002c0002t0066	a0002c0002t0001g0122 a0002c0002t0001g0230 a0002c0002t0066g0062 a0002c0002t0001g0122 a0002c0002t0001g0230 a0002c0002t0066g0062	3	320	0.0094	19	c.116 others(38): Show c.1168-8677_1168-8676insAAAAAAAAAAAAGAGAAAA	SIM1	ENSG00000112246.10	transcript	ENST00000369208.8	protein_coding	10/11			chr6	TogoVar
SIM2_chr21_36694115_36754917	36737961	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02080.hp1 HG02165.hp1 others(9): Show HG02015.hp2 HG02080.hp1 HG02165.hp1 HG02165.hp2 NA18747.hp1 NA18944.hp1 NA18970.hp2 NA18986.hp2 NA19057.hp1 NA19063.hp2 NA19070.hp1 NA20905.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0011 a0001c0001 a0001c0002 a0006c0011	a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 others(2): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0002t0002 a0006c0011t0006	a0001c0001t0004g0018 a0001c0001t0004g0047 a0001c0001t0004g0103 others(9): Show a0001c0001t0004g0018 a0001c0001t0004g0047 a0001c0001t0004g0103 a0001c0001t0004g0108 a0001c0001t0004g0131 a0001c0001t0004g0275 a0001c0001t0007g0331 a0001c0001t0008g0155 a0001c0001t0008g0162 a0001c0002t0002g0255 a0006c0011t0006g0176 a0006c0011t0006g0177	12	410	0.0293	19	c.851 others(36): Show c.851-3753_851-3735dupAAAAAAAAAAAAAAAAAAA	SIM2	ENSG00000159263.16	transcript	ENST00000290399.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
SIPA1L1_chr14_71315476_71746209	71356567	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01258.hp2 HG02602.hp2 others(2): Show HG01081.hp1 HG01258.hp2 HG02602.hp2 HG02922.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0027 a0001c0001t0002g0028 others(2): Show a0001c0001t0002g0022 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0036 a0001c0001t0002g0063	5	174	0.0287	19	c.-46 others(40): Show c.-465+35388_-465+35406dupAAAAAAAAAAAAAAAAAAA	SIPA1L1	ENSG00000197555.10	transcript	ENST00000381232.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
SIPA1L1_chr14_71315476_71746209	71356567	C C	CCAAAAAA others(12): Show CCAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	1	174	0.0058	19	c.-46 others(40): Show c.-465+35386_-465+35387insCAAAAAAAAAAAAAAAAAA	SIPA1L1	ENSG00000197555.10	transcript	ENST00000381232.8	protein_coding	2/23			chr14	TogoVar
SIPA1L1_chr14_71315476_71746209	71502255	A A	AAAAATAT others(12): Show AAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	174	0.0058	19	c.-46 others(40): Show c.-464-10487_-464-10486insAAATATATATATATATATA	SIPA1L1	ENSG00000197555.10	transcript	ENST00000381232.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
SIPA1L1_chr14_71315476_71746209	71742353	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp1 HG01257.hp1 HG01928.hp1 others(4): Show HG01071.hp1 HG01257.hp1 HG01928.hp1 HG01934.hp2 HG02523.hp2 HG02647.hp2 HG03195.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0002c0007t0001 a0001c0001t0001 a0001c0001t0002 a0002c0007t0001	a0001c0001t0001g0071 a0001c0001t0001g0078 a0001c0001t0001g0090 others(4): Show a0001c0001t0001g0071 a0001c0001t0001g0078 a0001c0001t0001g0090 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0035 a0002c0007t0001g0099	7	174	0.0402	19	c.31 others(30): Show c.3192_*3193insAAAAAAAAAAAAAAAAAAA	SIPA1L1	ENSG00000197555.10	transcript	ENST00000381232.8	protein_coding		1145		chr14	TogoVar
SIPA1L2_chr1_232392965_232635133	232443705	C C	CATTAACA others(12): Show CATTAACAGGGCACTGAACT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	292	0.0034	19	c.335 others(34): Show c.3354-39_3354-21dupAGTTCAGTGCCCTGTTAAT	SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	11/22			chr1	TogoVar
SIPA1L3_chr19_37902208_38213369	37937741	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18954.hp2 NA18942.hp1 NA18954.hp2	a0001 a0009 a0001 a0009	a0001c0003 a0009c0013 a0001c0003 a0009c0013	a0001c0003t0007 a0009c0013t0001 a0001c0003t0007 a0009c0013t0001	a0001c0003t0007g0120 a0009c0013t0001g0128 a0001c0003t0007g0120 a0009c0013t0001g0128	2	164	0.0122	19	c.-37 others(40): Show c.-379+30388_-379+30406dupAAAAAAAAAAAAAAAAAAA	SIPA1L3	ENSG00000105738.11	transcript	ENST00000222345.11	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIPA1L3_chr19_37902208_38213369	37962463	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03130.hp1 HG02486.hp1 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0008 a0002c0002t0002 a0002c0002t0008	a0002c0002t0002g0028 a0002c0002t0008g0031 a0002c0002t0002g0028 a0002c0002t0008g0031	2	164	0.0122	19	c.-37 others(40): Show c.-379+55110_-379+55128dupTTTTTTTTTTTTTTTTTTT	SIPA1L3	ENSG00000105738.11	transcript	ENST00000222345.11	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIPA1L3_chr19_37902208_38213369	38138897	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03486.hp2 HG03540.hp2 others(1): Show HG01891.hp2 HG03486.hp2 HG03540.hp2 HG03579.hp1	a0001 a0016 a0001 a0016	a0001c0006 a0016c0022 a0001c0006 a0016c0022	a0001c0006t0009 a0001c0006t0010 a0016c0022t0001 a0001c0006t0009 a0001c0006t0010 a0016c0022t0001	a0001c0006t0009g0140 a0001c0006t0010g0084 a0001c0006t0010g0085 others(1): Show a0001c0006t0009g0140 a0001c0006t0010g0084 a0001c0006t0010g0085 a0016c0022t0001g0030	4	164	0.0244	19	c.314 others(38): Show c.3144-2269_3144-2268insAAAAAAAAAAAAAAAAAAA	SIPA1L3	ENSG00000105738.11	transcript	ENST00000222345.11	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIPA1L3_chr19_37902208_38213369	38138910	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAACAAAAAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00558.hp1 HG01109.hp2 others(30): Show HG00140.hp2 HG00558.hp1 HG01109.hp2 HG01168.hp1 HG01515.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp2 HG01952.hp2 HG02080.hp2 HG02109.hp1 HG02132.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02300.hp1 HG02486.hp1 HG02622.hp1 HG02630.hp1 HG02717.hp2 HG02922.hp2 HG03041.hp1 HG03130.hp1 HG03239.hp2 HG03490.hp1 NA18522.hp2 NA18973.hp1 NA19068.hp1 NA19240.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0014 a0025	a0001c0004 a0002c0002 a0003c0005 others(4): Show a0001c0004 a0002c0002 a0003c0005 a0003c0012 a0005c0039 a0014c0019 a0025c0037	a0001c0004t0003 a0002c0002t0001 a0002c0002t0002 others(9): Show a0001c0004t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0008 a0002c0002t0015 a0003c0005t0003 a0003c0005t0011 a0003c0012t0003 a0005c0039t0001 a0014c0019t0003 a0025c0037t0001	a0001c0004t0003g0100 a0002c0002t0001g0014 a0002c0002t0001g0058 others(30): Show a0001c0004t0003g0100 a0002c0002t0001g0014 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0074 a0002c0002t0001g0088 a0002c0002t0001g0132 a0002c0002t0001g0136 a0002c0002t0001g0143 a0002c0002t0002g0028 a0002c0002t0002g0051 a0002c0002t0003g0017 a0002c0002t0003g0025 a0002c0002t0003g0047 a0002c0002t0003g0048 a0002c0002t0003g0053 a0002c0002t0003g0063 a0002c0002t0003g0064 a0002c0002t0003g0065 a0002c0002t0003g0086 a0002c0002t0003g0094 a0002c0002t0003g0116 a0002c0002t0008g0031 a0002c0002t0008g0082 a0002c0002t0015g0117 a0003c0005t0003g0110 a0003c0005t0011g0029 a0003c0005t0011g0163 a0003c0012t0003g0160 a0003c0012t0003g0161 a0005c0039t0001g0123 a0014c0019t0003g0146 a0025c0037t0001g0129	33	164	0.2012	19	c.314 others(38): Show c.3144-2269_3144-2268insAAAAAAACAAAAACAAAAA	SIPA1L3	ENSG00000105738.11	transcript	ENST00000222345.11	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIPA1L3_chr19_37902208_38213369	38183846	T T	TCGGGCGA others(12): Show TCGGGCGAGGAGGCTGGGCC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0012 a0012	a0012c0040 a0012c0040	a0012c0040t0004 a0012c0040t0004	a0012c0040t0004g0040 a0012c0040t0004g0040	1	164	0.0061	19	c.443 others(38): Show c.4430+1108_4430+1126dupGGGCGAGGAGGCTGGGCCC	SIPA1L3	ENSG00000105738.11	transcript	ENST00000222345.11	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIRT3_chr11_210030_241342	239547	G G	GCACTGCT others(12): Show GCACTGCTTGCTTGCCCAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	414	0.0024	19	c.-32 others(30): Show c.-3238_-3220dupTCTGGGCAAGCAAGCAGTG	SIRT3	ENSG00000142082.15	transcript	ENST00000382743.9	protein_coding		3206		chr11	TogoVar
SIRT3_chr11_210030_241342	240101	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp2 NA19011.hp2 NA18970.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	2	414	0.0048	19	c.-37 others(30): Show c.-3792_-3774dupAAAAAAAAAAAAAAAAAAA	SIRT3	ENSG00000142082.15	transcript	ENST00000382743.9	protein_coding		3760		chr11	TogoVar
SKAP1_chr17_48128442_48435214	48224055	G G	GGAGGAGG others(12): Show GGAGGAGGAGGAGGAGGAGA	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	292	0.0034	19	c.281 others(38): Show c.281-34556_281-34555insTCTCCTCCTCCTCCTCCTC	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	4/12			chr17	TogoVar
SKIDA1_chr10_21508475_21530682	21521088	A A	ACACACAC others(12): Show ACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0191 a0001c0001t0022g0191	1	230	0.0044	19	c.-18 others(38): Show c.-1837+300_-1837+301insGTGTGTGTGTGTGTGTGTG	SKIDA1	ENSG00000180592.17	transcript	ENST00000449193.7	protein_coding	3/3			chr10	TogoVar
SKOR1_chr15_67820509_67839582	67831903	C C	CCGGGGGG others(12): Show CCGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	428	0.0023	19	c.258 others(36): Show c.2588-371_2588-370insCGGGGGGGGGGGGGGGGGG	SKOR1	ENSG00000188779.12	transcript	ENST00000380035.3	protein_coding	5/8			chr15	TogoVar
SKOR1_chr15_67820509_67839582	67834239	C C	CTGAAACT others(12): Show CTGAAACTCCTGTTCCTAAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0004 a0001c0003t0014g0004	1	428	0.0023	19	c.40 others(28): Show c.404_*422dupTGAAACTCCTGTTCCTAAT	SKOR1	ENSG00000188779.12	transcript	ENST00000380035.3	protein_coding	9/9	423	INFO_REALIGN_3_PRIME	chr15	TogoVar
SKOR2_chr18_47201169_47256660	47245478	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0276 a0001c0001t0006g0276	1	344	0.0029	19	c.267 others(34): Show c.2677+19_2677+20insAAAAAAAAAAAAAAAAAAA	SKOR2	ENSG00000215474.8	transcript	ENST00000425639.3	protein_coding	3/8			chr18	TogoVar
SLA2_chr20_36607318_36651196	36636427	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0337 a0001c0001t0001g0337	1	360	0.0028	19	c.92- others(34): Show c.92-1857_92-1839dupTTTTTTTTTTTTTTTTTTT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding	2/7			chr20	TogoVar
SLAIN2_chr4_48336529_48431201	48393386	T T	TTTGTGTG others(12): Show TTTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0221 a0001c0003t0012g0221	1	348	0.0029	19	c.136 others(38): Show c.1360+9603_1360+9604insTGTGTGTGTGTGTGTGTGT	SLAIN2	ENSG00000109171.15	transcript	ENST00000264313.11	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLAMF6_chr1_160480036_160528255	160484243	A A	ATATATAT others(12): Show ATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp2 NA19003.hp2 NA18966.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0144 a0001c0001t0008g0011 a0001c0001t0001g0144 a0001c0001t0008g0011	2	394	0.0051	19	c.24 others(30): Show c.2463_*2464insATATATATATATATATATA	SLAMF6	ENSG00000162739.14	transcript	ENST00000368057.8	protein_coding		792		chr1	TogoVar

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