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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01346.hp2 HG02132.hp1 HG00544.hp1 HG01346.hp2 HG02132.hp1	a0001 a0005 a0001 a0005	a0001c0006 a0001c0088 a0005c0005 a0001c0006 a0001c0088 a0005c0005	a0001c0006t0001 a0001c0088t0001 a0005c0005t0001 a0001c0006t0001 a0001c0088t0001 a0005c0005t0001	a0001c0006t0001g0122 a0001c0088t0001g0291 a0005c0005t0001g0341 a0001c0006t0001g0122 a0001c0088t0001g0291 a0005c0005t0001g0341	3	412	0.0073	35	c.138 others(52): Show c.1387+451_1387+452insATATATATATATATATATATATATATAT ATTTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0048 a0001c0048	a0001c0048t0001 a0001c0048t0001	a0001c0048t0001g0048 a0001c0048t0001g0048	1	412	0.0024	35	c.138 others(52): Show c.1387+451_1387+452insATATATATATATATATATATATATATAT TTTTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	412	0.0024	35	c.138 others(52): Show c.1387+451_1387+452insATATATATATATATATATATATATTTTT TTTTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSH1_chr12_108773191_108862583	108859921	A A	AGGAGGGG others(28): Show AGGAGGGGAGGGGAGGGGAGAGGAGGGGAGGGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02615.hp1 HG02622.hp2 others(2): Show HG01109.hp1 HG02615.hp1 HG02622.hp2 HG02976.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0055 a0001c0001t0007 a0001c0001t0055	a0001c0001t0007g0009 a0001c0001t0007g0118 a0001c0001t0007g0133 others(1): Show a0001c0001t0007g0009 a0001c0001t0007g0118 a0001c0001t0007g0133 a0001c0001t0055g0117	5	332	0.0151	35	c.-24 others(46): Show c.-2426_-2425insCCTCCCCTCCCCTCCTCTCCCCTCCCCTCCCCTC C	SSH1	ENSG00000084112.15	transcript	ENST00000326495.10	protein_coding		2339		chr12	TogoVar
SSR2_chr1_156004048_156025951	156004365	A A	AATATATA others(28): Show AATATATATTATATATAAATAAATAATATATATTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA21309.hp2 NA19030.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	2	356	0.0056	35	c.51 others(46): Show c.5140_*5174dupATAATATATATTATTTATTTATATATAATATATA T	SSR2	ENSG00000163479.14	transcript	ENST00000295702.9	protein_coding		4682		chr1	TogoVar
SSR2_chr1_156004048_156025951	156006363	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	356	0.0028	35	c.31 others(46): Show c.3176_*3177insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	SSR2	ENSG00000163479.14	transcript	ENST00000295702.9	protein_coding		2684		chr1	TogoVar
ST13_chr22_40819535_40861639	40820663	T T	TAAAAAAA others(28): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0064 a0001c0001t0008g0064	1	344	0.0029	35	c.58 others(46): Show c.5874_*5875insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	ST13	ENSG00000100380.15	transcript	ENST00000216218.8	protein_coding		3871		chr22	TogoVar
ST3GAL2_chr16_70370977_70444100	70410240	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0007	1	312	0.0032	35	c.-10 others(58): Show c.-1003-10708_-1003-10707insAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	ST3GAL2	ENSG00000157350.13	transcript	ENST00000342907.3	protein_coding	1/6			chr16	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77070774	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0201 a0001c0001t0016g0201	1	202	0.0050	35	c.75 others(46): Show c.7568_*7569insTATATATATATATATATATATATATATATATATA T	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding		3229		chr1	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77070774	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0094 a0001c0001t0004g0094	1	202	0.0050	35	c.75 others(46): Show c.7568_*7569insTATATATATATATATATATATATATATATTTTTT T	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding		3229		chr1	TogoVar
ST7_chr7_116948501_117235176	117027463	A A	AAAAGTAA others(28): Show AAAAGTAAAAGTAAAAGTAAAAGTAAAAGTAAAAGT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03098.hp1 HG03130.hp1 HG02109.hp1 HG03098.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0097 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0097	3	188	0.0160	35	c.152 others(54): Show c.152-72291_152-72290insAGTAAAAGTAAAAGTAAAAGTAAAAG TAAAGTAAA	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
ST7_chr7_116948501_117235176	117027463	A A	AAAAGTAA others(28): Show AAAAGTAAAGTAAAGTAAAGTAAAGTAAAGTAAAGT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp2 HG01192.hp1 others(4): Show HG00738.hp1 HG00738.hp2 HG01192.hp1 HG01256.hp2 HG02083.hp1 HG03041.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0101 a0001c0001t0001g0107 others(4): Show a0001c0001t0001g0071 a0001c0001t0001g0101 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0136 a0001c0001t0001g0175 a0001c0001t0001g0178	7	188	0.0372	35	c.152 others(54): Show c.152-72296_152-72262dupAGTAAAGTAAAGTAAAGTAAAGTAAA GTAAAGTAA	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
ST8SIA5_chr18_46662821_46762053	46719682	T T	TTTCTTTC others(28): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp2 NA18990.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0045 a0001c0001t0034 a0001c0001t0045	a0001c0001t0034g0175 a0001c0001t0045g0316 a0001c0001t0034g0175 a0001c0001t0045g0316	2	362	0.0055	35	c.132 others(54): Show c.132-15019_132-15018insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAA	ST8SIA5	ENSG00000101638.14	transcript	ENST00000315087.12	protein_coding	1/6			chr18	TogoVar
ST8SIA6_chr10_17310421_17459595	17333715	A A	AGATATAT others(28): Show AGATATATATATATATATAGATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0201 a0001c0001t0003g0201	1	296	0.0034	35	c.378 others(52): Show c.378-2164_378-2163insAAATATATATATATATCTATATATATAT ATATATC	ST8SIA6	ENSG00000148488.17	transcript	ENST00000377602.5	protein_coding	4/7			chr10	TogoVar
ST8SIA6_chr10_17310421_17459595	17342584	A A	AAAAGGGC others(28): Show AAAAGGGCCTACATGAAACAAGTAATTTTAAAGTTG	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0031 a0001c0001t0004g0031	1	296	0.0034	35	c.378 others(54): Show c.378-11067_378-11033dupCAACTTTAAAATTACTTGTTTCATGT AGGCCCTTT	ST8SIA6	ENSG00000148488.17	transcript	ENST00000377602.5	protein_coding	4/7			chr10	TogoVar
STAG1_chr3_136331236_136757378	136376016	C C	CAAAATAA others(28): Show CAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp1 HG00609.hp1 others(31): Show HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00642.hp1 HG00735.hp1 HG01069.hp1 HG01071.hp1 HG01169.hp2 HG01175.hp1 HG01256.hp1 HG01346.hp1 HG01361.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG02074.hp2 HG02080.hp2 HG02300.hp1 HG02523.hp1 HG03017.hp2 HG03669.hp2 HG03710.hp2 HG04228.hp2 NA18747.hp1 NA18941.hp1 NA18945.hp1 NA18954.hp2 NA18975.hp2 NA18984.hp1 NA18986.hp2 NA19010.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0020 a0001c0001t0001 a0001c0001t0020	a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0018 others(31): Show a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0240 a0001c0001t0020g0019	34	240	0.1417	35	c.237 others(54): Show c.2370+1643_2370+1644insATTTTATTTTATTTTATTTTATTTTA TTTTATTTT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	23/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136396520	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0227 a0001c0008t0003g0227	1	240	0.0042	35	c.227 others(54): Show c.2277+2228_2277+2229insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	22/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136540822	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0215 a0001c0001t0003g0215	1	240	0.0042	35	c.471 others(52): Show c.471+1296_471+1297insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	6/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136629468	G G	GTATTTAT others(28): Show GTATTTATACCATATTTATATATGTTCATATATTTA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0193 a0001c0002t0014g0193	1	240	0.0042	35	c.29+ others(50): Show c.29+1367_29+1401dupTAAATATATGAACATATATAAATATGGTAT AAATA	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	2/33			chr3	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AAAAAAAA others(28): Show AAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0117 a0001c0001t0007g0117	1	268	0.0037	35	c.210 others(52): Show c.2102+621_2102+622insATATATATATATATATATATATATATAT TTTTTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AAAAAAAT others(28): Show AAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0033 a0002c0002t0001g0033	1	268	0.0037	35	c.210 others(52): Show c.2102+621_2102+622insATATATATATATATATATATATATATAT ATTTTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AAAAATAT others(28): Show AAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02723.hp2 NA18953.hp1 HG01255.hp1 HG02723.hp2 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0135 a0001c0001t0001g0209 a0001c0001t0001g0129 a0001c0001t0001g0135 a0001c0001t0001g0209	3	268	0.0112	35	c.210 others(52): Show c.2102+621_2102+622insATATATATATATATATATATATATATAT ATATTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AAATATAT others(28): Show AAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02809.hp1 HG02818.hp2 HG02615.hp1 HG02809.hp1 HG02818.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0095 a0002c0002t0001g0036 a0002c0002t0001g0044 a0001c0001t0001g0095 a0002c0002t0001g0036 a0002c0002t0001g0044	3	268	0.0112	35	c.210 others(52): Show c.2102+621_2102+622insATATATATATATATATATATATATATAT ATATATT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	268	0.0037	35	c.210 others(52): Show c.2102+621_2102+622insATATATATATATATATATATATATATAT ATATATA	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56354014	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp2 NA18984.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0107 a0001c0001t0001g0108	2	268	0.0075	35	c.782 others(50): Show c.782+451_782+452insATATATATATATATATATATATATATATAT ATATA	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	8/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56354016	A A	AAAAAAAT others(28): Show AAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	268	0.0037	35	c.782 others(50): Show c.782+449_782+450insATATATATATATATATATATATATATATAT TTTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	8/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56354016	A A	AAATATAT others(28): Show AAATATATATGTATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	268	0.0037	35	c.782 others(50): Show c.782+449_782+450insATATATATATATATATATATATATACATAT ATATT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	8/23			chr12	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	384	0.0026	35	c.762 others(54): Show c.762+35592_762+35593insAAAAAAAAAAATATATATATATATAT ATATATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(28): Show ATATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01081.hp2 HG01074.hp2 HG01081.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0002 a0005c0005t0001 a0001c0001t0002 a0005c0005t0001	a0001c0001t0002g0028 a0005c0005t0001g0347 a0001c0001t0002g0028 a0005c0005t0001g0347	2	384	0.0052	35	c.762 others(54): Show c.762+35592_762+35593insAAAAAAAAAAAAATATATATATATAT ATATATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(28): Show ATATATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 NA18961.hp1 HG01261.hp1 NA18961.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0100 a0002c0002t0002g0298 a0001c0001t0002g0100 a0002c0002t0002g0298	2	384	0.0052	35	c.762 others(54): Show c.762+35592_762+35593insAAAAAAAAAAAAAAAAATATATATAT ATATATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22456973	T T	TATATATA others(28): Show TATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01943.hp1 HG01928.hp2 HG01943.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0160 a0004c0004t0001g0166 a0004c0004t0001g0160 a0004c0004t0001g0166	2	384	0.0052	35	c.762 others(54): Show c.762+35591_762+35592insTATATATATATATATATATATATATA TATATATAT	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP2_chr7_90206740_90242683	90208377	G G	GGAAGGAA others(28): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	390	0.0026	35	c.-38 others(46): Show c.-3815_-3814insGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA A	STEAP2	ENSG00000157214.14	transcript	ENST00000394621.7	protein_coding		3362		chr7	TogoVar
STEEP1_chrX_119533149_119570409	119536967	T T	TAAAAAAA others(28): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	293	0.0034	35	c.27 others(46): Show c.2759_*2760insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	STEEP1	ENSG00000018610.15	transcript	ENST00000644802.2	protein_coding		1181		chrX	TogoVar
STK10_chr5_172037079_172193224	172171730	T T	TGAATAGA others(28): Show TGAATAGAATAGAATAGAATAGAATAGAATAGAATA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG02257.hp2 others(9): Show HG01515.hp1 HG01517.hp1 HG02257.hp2 HG02896.hp2 HG02897.hp1 HG02976.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 NA18952.hp1 NA19003.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008 a0001c0009	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(7): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0002t0002 a0001c0002t0010 a0001c0002t0016 a0001c0005t0001 a0001c0008t0009 a0001c0008t0029 a0001c0009t0001	a0001c0001t0001g0219 a0001c0001t0001g0223 a0001c0001t0005g0035 others(9): Show a0001c0001t0001g0219 a0001c0001t0001g0223 a0001c0001t0005g0035 a0001c0001t0006g0037 a0001c0002t0002g0058 a0001c0002t0010g0043 a0001c0002t0016g0042 a0001c0005t0001g0121 a0001c0005t0001g0122 a0001c0008t0009g0012 a0001c0008t0029g0013 a0001c0009t0001g0036	12	232	0.0517	35	c.157 others(54): Show c.157-14943_157-14942insTATTCTATTCTATTCTATTCTATTCT ATTCTATTC	STK10	ENSG00000072786.13	transcript	ENST00000176763.10	protein_coding	1/18			chr5	TogoVar
STK11IP_chr2_219592857_219621451	219617002	G G	GGAGGCAA others(28): Show GGAGGCAAGTTTCCTCTCAGGGTTGCTGTGAGGATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0142 a0003c0003t0002g0142	1	342	0.0029	35	c.80 others(44): Show c.809_*810insGAGGCAAGTTTCCTCTCAGGGTTGCTGTGAGGATA	STK11IP	ENSG00000144589.22	transcript	ENST00000456909.6	protein_coding		552		chr2	TogoVar
STK31_chr7_23705219_23837513	23730878	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA19087.hp2 NA18986.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0198 a0001c0001t0001g0187 a0001c0001t0001g0198	2	404	0.0050	35	c.483 others(52): Show c.483+1630_483+1631insATATATATATATATATATATATATATAT ATATTTT	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
STK31_chr7_23705219_23837513	23730878	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01256.hp2 HG03834.hp2 others(2): Show HG00609.hp2 HG01256.hp2 HG03834.hp2 NA18977.hp1 NA19007.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0180 a0001c0001t0001g0279 a0001c0001t0001g0400 others(2): Show a0001c0001t0001g0180 a0001c0001t0001g0279 a0001c0001t0001g0400 a0003c0003t0001g0136 a0003c0003t0001g0143	5	404	0.0124	35	c.483 others(52): Show c.483+1630_483+1631insATATATATATATATATATATATATATAT TTTTTTT	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
STK31_chr7_23705219_23837513	23730878	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0135 a0003c0003t0001g0135	1	404	0.0025	35	c.483 others(52): Show c.483+1630_483+1631insATATATATATATATATATATATATTTTT TTTTTTT	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
STK31_chr7_23705219_23837513	23730878	A A	ATATATAT others(28): Show ATATATATATATATGTATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0149 a0001c0005t0001g0149	1	404	0.0025	35	c.483 others(52): Show c.483+1630_483+1631insATATATATATATGTATATATATATATAT TTTTTTT	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
STK31_chr7_23705219_23837513	23808943	T T	TGTGTGTG others(28): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG04204.hp1 HG03098.hp1 HG04204.hp1	a0003 a0008 a0003 a0008	a0003c0003 a0008c0010 a0003c0003 a0008c0010	a0003c0003t0001 a0008c0010t0001 a0003c0003t0001 a0008c0010t0001	a0003c0003t0001g0108 a0008c0010t0001g0254 a0003c0003t0001g0108 a0008c0010t0001g0254	2	404	0.0050	35	c.276 others(54): Show c.2761-6201_2761-6200insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTG	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	22/23			chr7	TogoVar
STK39_chr2_167949022_168252595	168242560	A A	AAAAAAAT others(28): Show AAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0137 a0001c0001t0007g0137	1	270	0.0037	35	c.208 others(52): Show c.208+4667_208+4668insATATATATATATATATATATATATATAT ATTTTTT	STK39	ENSG00000198648.12	transcript	ENST00000355999.5	protein_coding	1/17			chr2	TogoVar
STK4_chr20_44961512_45085021	45062989	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	328	0.0031	35	c.130 others(56): Show c.1306-11999_1306-11998insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	STK4	ENSG00000101109.13	transcript	ENST00000372806.8	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
STMN3_chr20_63634712_63658424	63647765	C C	CATATATA others(28): Show CATATATACACGTGTATATATATAATATATATACGT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02165.hp2 HG00597.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0084 a0001c0001t0002g0085	2	388	0.0052	35	c.20- others(50): Show c.20-3491_20-3457dupACGTATATATATTATATATATACACGTGTA TATAT	STMN3	ENSG00000197457.10	transcript	ENST00000370053.3	protein_coding	1/4			chr20	TogoVar
STOML3_chr13_38960925_38995831	38987894	T T	TTATATTT others(28): Show TTATATTTTATATAATATATTTTATATAATATATTA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	396	0.0025	35	c.52+ others(50): Show c.52+2775_52+2776insTAATATATTATATAAAATATATTATATAAA ATATA	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
STOML3_chr13_38960925_38995831	38988089	T T	TAATATAT others(28): Show TAATATATTATATTTTATATCATATATTTTATATAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	396	0.0025	35	c.52+ others(50): Show c.52+2580_52+2581insTTATATAAAATATATGATATAAAATATAAT ATATT	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
STPG2_chr4_97553872_98148476	97957179	A A	ATATATGA others(28): Show ATATATGAAATATATATGTGAAATATATGTGAAATC	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0028 a0002c0003t0002g0028	1	266	0.0038	35	c.934 others(54): Show c.934-13173_934-13172insGATTTCACATATATTTCACATATATA TTTCATATA	STPG2	ENSG00000163116.10	transcript	ENST00000295268.4	protein_coding	7/10			chr4	TogoVar
STRN3_chr14_30888804_31031379	30929954	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0065 a0001c0004t0007g0065	1	364	0.0028	35	c.989 others(50): Show c.989-644_989-643insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	STRN3	ENSG00000196792.12	transcript	ENST00000357479.10	protein_coding	7/17			chr14	TogoVar
STRN3_chr14_30888804_31031379	31013886	T T	TATTATTA others(28): Show TATTATTATTATTATTATTATTTGAGACAGAGTGTC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02809.hp2 HG02922.hp1 others(1): Show HG02630.hp2 HG02809.hp2 HG02922.hp1 HG03041.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0007 a0002c0005t0001 a0002c0005t0007	a0002c0005t0001g0210 a0002c0005t0001g0294 a0002c0005t0001g0300 others(1): Show a0002c0005t0001g0210 a0002c0005t0001g0294 a0002c0005t0001g0300 a0002c0005t0007g0293	4	364	0.0110	35	c.282 others(54): Show c.282+12017_282+12018insGACACTCTGTCTCAAATAATAATAAT AATAATAAT	STRN3	ENSG00000196792.12	transcript	ENST00000357479.10	protein_coding	1/17			chr14	TogoVar
STX6_chr1_180967725_181027870	181009802	C C	CACAGCCT others(28): Show CACAGCCTGCACCTTTTTATAGTAGCTTTATTAATA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02486.hp2 HG02615.hp2 others(2): Show HG02280.hp1 HG02486.hp2 HG02615.hp2 NA19043.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0029 a0001c0002t0002 a0001c0001t0029 a0001c0002t0002	a0001c0001t0029g0314 a0001c0002t0002g0029 a0001c0002t0002g0030 others(2): Show a0001c0001t0029g0314 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0312 a0001c0002t0002g0313	5	350	0.0143	35	c.36- others(50): Show c.36-4340_36-4339insTATTAATAAAGCTACTATAAAAAGGTGCAG GCTGT	STX6	ENSG00000135823.14	transcript	ENST00000258301.6	protein_coding	1/7			chr1	TogoVar
STX6_chr1_180967725_181027870	181023050	C C	CTCTCTCT others(28): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	350	0.0029	35	c.-37 others(44): Show c.-378_-377insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	STX6	ENSG00000135823.14	transcript	ENST00000258301.6	protein_coding		181		chr1	TogoVar

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