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
SSTR2_chr17_73160010_73181633	73175198	T T	TCCCCCCC others(22): Show TCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0090 a0001c0001t0090	a0001c0001t0090g0003 a0001c0001t0090g0003	1	454	0.0022	29	c.47 others(40): Show c.4772_*4773insCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	SSTR2	ENSG00000180616.9	transcript	ENST00000357585.4	protein_coding	2/2	4773	INFO_REALIGN_3_PRIME	chr17	TogoVar
SSU72L6_chr7_124471317_124482664	124479398	G G	GGGGAAGA others(22): Show GGGGAAGAAAAAGGAAGGGCTCCTAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	466	0.0022	29	c.24 others(40): Show c.2443_*2444insGGGAAGAAAAAGGAAGGGCTCCTAAAAAA	SSU72L6	ENSG00000230268.4	transcript	ENST00000473520.2	protein_coding		1735		chr7	TogoVar
ST13_chr22_40819535_40861639	40820663	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02572.hp2 HG03130.hp2 others(3): Show HG02280.hp1 HG02572.hp2 HG03130.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0018 a0001c0001t0001g0055 a0001c0001t0001g0195 others(1): Show a0001c0001t0001g0018 a0001c0001t0001g0055 a0001c0001t0001g0195 a0001c0001t0007g0043	6	344	0.0174	29	c.58 others(40): Show c.5874_*5875insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ST13	ENSG00000100380.15	transcript	ENST00000216218.8	protein_coding		3871		chr22	TogoVar
ST3GAL2_chr16_70370977_70444100	70410240	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp1 NA18984.hp2 HG02738.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0027 a0001c0001t0002 a0001c0001t0027	a0001c0001t0002g0047 a0001c0001t0027g0046 a0001c0001t0002g0047 a0001c0001t0027g0046	2	312	0.0064	29	c.-10 others(52): Show c.-1003-10708_-1003-10707insAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	ST3GAL2	ENSG00000157350.13	transcript	ENST00000342907.3	protein_coding	1/6			chr16	TogoVar
ST6GAL1_chr3_186925526_187083553	186984740	T T	TTCCCTTC others(22): Show TTCCCTTCCTCCCTTCCTTCCTTCCTTCTC	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp1 NA20905.hp1 HG01515.hp1 HG01517.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0319 a0001c0001t0004g0306 a0001c0001t0004g0308 a0001c0001t0002g0319 a0001c0001t0004g0306 a0001c0001t0004g0308	3	362	0.0083	29	c.-18 others(50): Show c.-183+20819_-183+20820insTCCTCCCTTCCTTCCTTCCTTCTC TCCCT	ST6GAL1	ENSG00000073849.16	transcript	ENST00000169298.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
ST6GALNAC5_chr1_76862480_77072546	76936953	G G	GGCGTGTG others(22): Show GGCGTGTGGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	202	0.0050	29	c.261 others(48): Show c.261+68212_261+68213insCGTGTGGTGTGTGTGTGTGTGTGTGT GTG	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77070774	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG01358.hp2 HG02723.hp2 HG00280.hp2 HG01358.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0061 a0001c0001t0005g0071 a0001c0001t0005g0200 a0001c0001t0001g0061 a0001c0001t0005g0071 a0001c0001t0005g0200	3	202	0.0149	29	c.75 others(40): Show c.7568_*7569insTATATATATATATATATATATATATATTT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding		3229		chr1	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77070774	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01993.hp1 HG03017.hp2 others(1): Show HG00741.hp2 HG01993.hp1 HG03017.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0075 a0001c0001t0005g0079 a0001c0001t0005g0083 others(1): Show a0001c0001t0005g0075 a0001c0001t0005g0079 a0001c0001t0005g0083 a0001c0001t0005g0103	4	202	0.0198	29	c.75 others(40): Show c.7568_*7569insTATATATATATATATATATATATATTTTT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding		3229		chr1	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77070774	A A	ATATATAT others(22): Show ATATATATATATATATATATATTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0010 a0002c0006t0010	a0002c0006t0010g0192 a0002c0006t0010g0192	1	202	0.0050	29	c.75 others(40): Show c.7568_*7569insTATATATATATATATATATATTTTTTTTT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding		3229		chr1	TogoVar
ST8SIA5_chr18_46662821_46762053	46725982	T T	TATATATA others(22): Show TATATATATATATATATATATATATCCTGG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0116 a0001c0001t0116	a0001c0001t0116g0355 a0001c0001t0116g0355	1	362	0.0028	29	c.132 others(48): Show c.132-21319_132-21318insCCAGGATATATATATATATATATATA TAT	ST8SIA5	ENSG00000101638.14	transcript	ENST00000315087.12	protein_coding	1/6			chr18	TogoVar
ST8SIA5_chr18_46662821_46762053	46725996	T T	TATATATA others(22): Show TATATATATATATATATATATATATCCTGG	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0102 a0001c0001t0056g0102	1	362	0.0028	29	c.132 others(48): Show c.132-21333_132-21332insCCAGGATATATATATATATATATATA TAT	ST8SIA5	ENSG00000101638.14	transcript	ENST00000315087.12	protein_coding	1/6			chr18	TogoVar
STAG1_chr3_136331236_136757378	136396520	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0219 a0001c0001t0003g0219	1	240	0.0042	29	c.227 others(48): Show c.2277+2228_2277+2229insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	22/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136418360	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0140 a0002c0003t0002g0140	1	240	0.0042	29	c.210 others(46): Show c.2109-417_2109-389dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	20/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136540822	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG03492.hp1 HG02074.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0209 a0001c0002t0002g0166 a0001c0001t0003g0209 a0001c0002t0002g0166	2	240	0.0083	29	c.471 others(46): Show c.471+1268_471+1296dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	6/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136579958	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0178 a0001c0006t0005g0178	1	240	0.0042	29	c.298 others(48): Show c.298-11098_298-11097insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	4/33			chr3	TogoVar
STAP2_chr19_4319043_4343827	4321175	C C	CTGAGGAG others(22): Show CTGAGGAGTATCTGGGGGAAACAGCTGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0016 a0002c0002t0001g0016	1	388	0.0026	29	c.29 others(40): Show c.2957_*2958insTCCCAGCTGTTTCCCCCAGATACTCCTCA	STAP2	ENSG00000178078.12	transcript	ENST00000594605.6	protein_coding		2867		chr19	TogoVar
STAP2_chr19_4319043_4343827	4322684	G G	GGGAATAG others(22): Show GGGAATAGCTGCGCCCAAGGAGTATCTGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0176 a0001c0003t0001g0176	1	388	0.0026	29	c.14 others(40): Show c.1448_*1449insTCCAGATACTCCTTGGGCGCAGCTATTCC	STAP2	ENSG00000178078.12	transcript	ENST00000594605.6	protein_coding		1358		chr19	TogoVar
STARD7_chr2_96179859_96213827	96200397	A A	ACACCACC others(22): Show ACACCACCATATATTGTACTATGTATCACT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0188 a0001c0001t0003g0188	1	358	0.0028	29	c.291 others(46): Show c.291-4877_291-4849dupAGTGATACATAGTACAATATATGGTGGT G	STARD7	ENSG00000084090.14	transcript	ENST00000337288.10	protein_coding	1/7			chr2	TogoVar
STARD9_chr15_42570606_42725998	42699392	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0039 a0039	a0039c0033 a0039c0033	a0039c0033t0002 a0039c0033t0002	a0039c0033t0002g0057 a0039c0033t0002g0057	1	210	0.0048	29	c.132 others(50): Show c.13284+3532_13284+3533insTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	STARD9	ENSG00000159433.12	transcript	ENST00000290607.12	protein_coding	26/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AAAAAAAA others(22): Show AAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG06807.hp1 NA19012.hp1 HG02630.hp1 HG06807.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0122 a0001c0001t0001g0136 a0001c0001t0001g0103 a0001c0001t0001g0122 a0001c0001t0001g0136	3	268	0.0112	29	c.210 others(46): Show c.2102+621_2102+622insATATATATATATATATATATATTTTTTT T	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AAAAAAAT others(22): Show AAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02056.hp1 HG03516.hp1 others(2): Show HG01928.hp2 HG02056.hp1 HG03516.hp1 HG03654.hp2 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0131 a0001c0001t0001g0170 a0001c0001t0001g0173 others(2): Show a0001c0001t0001g0131 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0002g0051 a0001c0001t0002g0161	5	268	0.0187	29	c.210 others(46): Show c.2102+621_2102+622insATATATATATATATATATATATATTTTT T	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AAAAATAT others(22): Show AAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02895.hp2 NA18747.hp2 others(4): Show HG00673.hp1 HG02895.hp2 NA18747.hp2 NA18969.hp1 NA18981.hp2 NA19064.hp2 NA19065.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0009 a0003c0003t0003 a0001c0001t0001 a0001c0001t0009 a0003c0003t0003	a0001c0001t0001g0007 a0001c0001t0001g0134 a0001c0001t0001g0141 others(4): Show a0001c0001t0001g0007 a0001c0001t0001g0134 a0001c0001t0001g0141 a0001c0001t0001g0152 a0001c0001t0001g0242 a0001c0001t0009g0147 a0003c0003t0003g0249	7	268	0.0261	29	c.210 others(46): Show c.2102+621_2102+622insATATATATATATATATATATATATATTT T	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AAATATAT others(22): Show AAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02647.hp2 NA19068.hp2 HG02622.hp2 HG02647.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0218 a0001c0001t0001g0236 a0001c0001t0001g0238	3	268	0.0112	29	c.210 others(46): Show c.2102+621_2102+622insATATATATATATATATATATATATATAT T	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	268	0.0037	29	c.210 others(46): Show c.2102+621_2102+622insATATATATATATATATATATATATATAT A	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56354014	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	268	0.0037	29	c.782 others(44): Show c.782+451_782+452insATATATATATATATATATATATATATATA	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	8/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56354016	A A	AAAAAAAA others(22): Show AAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0147 a0001c0001t0009g0147	1	268	0.0037	29	c.782 others(44): Show c.782+449_782+450insATATATATATATATATATATATTTTTTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	8/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56354016	A A	AAAAATAT others(22): Show AAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02300.hp2 NA18981.hp1 others(2): Show HG01928.hp2 HG02300.hp2 NA18981.hp1 NA19010.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 others(2): Show a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0131 a0001c0001t0002g0132	5	268	0.0187	29	c.782 others(44): Show c.782+449_782+450insATATATATATATATATATATATATATTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	8/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56354016	A A	AAATATAT others(22): Show AAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	268	0.0037	29	c.782 others(44): Show c.782+449_782+450insATATATATATATATATATATATATATATT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	8/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56354016	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	268	0.0037	29	c.782 others(44): Show c.782+449_782+450insATATATATATATATATATATATATATATA	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	8/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56363211	A A	AAAAAAAT others(22): Show AAAAAAATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	268	0.0037	29	c.-31 others(40): Show c.-3162_-3161insATATATATATATATATATATATATTTTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding		3105		chr12	TogoVar
STAT5B_chr17_42194177_42281391	42265377	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01993.hp1 HG02280.hp1 others(7): Show HG00438.hp1 HG01993.hp1 HG02280.hp1 HG03669.hp1 NA18982.hp1 NA18999.hp1 NA19000.hp1 NA19005.hp1 NA19087.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0147 a0001c0001t0001g0173 a0001c0001t0001g0174 others(7): Show a0001c0001t0001g0147 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0200 a0001c0001t0001g0213 a0001c0001t0001g0220 a0001c0001t0003g0149 a0001c0001t0004g0172	10	260	0.0385	29	c.-11 others(48): Show c.-11+10870_-11+10871insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	STAT5B	ENSG00000173757.11	transcript	ENST00000293328.8	protein_coding	1/18			chr17	TogoVar
STAU2_chr8_73415369_73751840	73479709	A A	ACAATATA others(22): Show ACAATATACGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03516.hp2 HG03225.hp1 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0045 a0002c0002t0001g0089 a0002c0002t0001g0045 a0002c0002t0001g0089	2	240	0.0083	29	c.153 others(50): Show c.1531-57008_1531-57007insCACACACACACACACACACACGTA TATTG	STAU2	ENSG00000040341.18	transcript	ENST00000524300.6	protein_coding	13/14			chr8	TogoVar
STAU2_chr8_73415369_73751840	73720499	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0065 a0002c0002t0001g0065	1	240	0.0042	29	c.-17 others(48): Show c.-17-11338_-17-11337insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	STAU2	ENSG00000040341.18	transcript	ENST00000524300.6	protein_coding	3/14			chr8	TogoVar
STEAP1B_chr7_22414444_22505188	22454866	T T	TAAATATA others(22): Show TAAATATAAATATATATATGTATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02886.hp2 HG02717.hp2 HG02886.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0342 a0002c0002t0002g0343 a0002c0002t0002g0342 a0002c0002t0002g0343	2	384	0.0052	29	c.763 others(48): Show c.763-35031_763-35030insTATATATATACATATATATATTTATA TTT	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(22): Show ATATATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA19002.hp1 NA18946.hp1 NA19002.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0093 a0003c0003t0001g0184 a0001c0001t0001g0093 a0003c0003t0001g0184	2	384	0.0052	29	c.762 others(48): Show c.762+35592_762+35593insAAAAAAAAAAAAAAAAAAATATATAT ATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP4_chr7_88265892_88311894	88302999	T T	TAGCTTGT others(22): Show TAGCTTGTATTCTACTAATAATCTTCCAAG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02886.hp1 HG03209.hp1 others(2): Show HG02559.hp2 HG02886.hp1 HG03209.hp1 HG03209.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0026 a0001c0001t0027 a0001c0001t0012 a0001c0001t0026 a0001c0001t0027	a0001c0001t0012g0039 a0001c0001t0012g0246 a0001c0001t0026g0040 others(1): Show a0001c0001t0012g0039 a0001c0001t0012g0246 a0001c0001t0026g0040 a0001c0001t0027g0041	5	318	0.0157	29	c.-3+ others(44): Show c.-3+3764_-3+3792dupCTTGGAAGATTATTAGTAGAATACAAGCT	STEAP4	ENSG00000127954.13	transcript	ENST00000380079.9	protein_coding	1/4			chr7	TogoVar
STEEP1_chrX_119533149_119570409	119536967	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01516.hp1 HG02155.hp2 others(2): Show HG01123.hp1 HG01516.hp1 HG02155.hp2 HG02165.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0069 a0001c0001t0001g0082 others(2): Show a0001c0001t0001g0043 a0001c0001t0001g0069 a0001c0001t0001g0082 a0001c0001t0001g0155 a0001c0001t0001g0158	5	293	0.0171	29	c.27 others(40): Show c.2759_*2760insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	STEEP1	ENSG00000018610.15	transcript	ENST00000644802.2	protein_coding		1181		chrX	TogoVar
STK24_chr13_98440185_98582107	98474115	C C	CAAAGTCC others(22): Show CAAAGTCCCGGGATTTTTTGTCCCATCTAA	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0086 a0001c0001t0002g0086	1	322	0.0031	29	c.597 others(44): Show c.597+677_597+705dupTTAGATGGGACAAAAAATCCCGGGACTTT	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
STK24_chr13_98440185_98582107	98494412	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0074	1	322	0.0031	29	c.274 others(48): Show c.274-12092_274-12091insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	2/10			chr13	TogoVar
STK31_chr7_23705219_23837513	23730878	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0020 a0020	a0020c0024 a0020c0024	a0020c0024t0001 a0020c0024t0001	a0020c0024t0001g0097 a0020c0024t0001g0097	1	404	0.0025	29	c.483 others(46): Show c.483+1630_483+1631insATATATATATATATATATATATATATAT T	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(22): Show ATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03540.hp1 NA18959.hp2 others(3): Show HG02970.hp2 HG03540.hp1 NA18959.hp2 NA18991.hp1 NA19011.hp1 NA19086.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0183 others(3): Show a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0183 a0001c0001t0001g0195 a0003c0003t0001g0120 a0003c0003t0001g0140	6	404	0.0149	29	c.483 others(46): Show c.483+1630_483+1631insATATATATATATATATATATATATATTT T	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(22): Show ATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 NA18946.hp2 NA18994.hp2 others(1): Show HG00099.hp1 NA18946.hp2 NA18994.hp2 NA19074.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0171 a0001c0001t0001g0178 a0001c0001t0001g0196 others(1): Show a0001c0001t0001g0171 a0001c0001t0001g0178 a0001c0001t0001g0196 a0003c0003t0001g0088	4	404	0.0099	29	c.483 others(46): Show c.483+1630_483+1631insATATATATATATATATATATATATTTTT T	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(22): Show ATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0134 a0003c0003t0001g0134	1	404	0.0025	29	c.483 others(46): Show c.483+1630_483+1631insATATATATATATATATATATATTTTTTT T	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(22): Show ATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0104 a0003c0003t0001g0104	1	404	0.0025	29	c.483 others(46): Show c.483+1630_483+1631insATATATATATATATATTTTTTTTTTTTT T	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
STK32A_chr5_147230026_147392855	147259864	T T	TTCTGTCT others(22): Show TTCTGTCTCTCTCTCCTGTCTCTCTCTTTC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01167.hp2 HG01169.hp2 others(12): Show HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01243.hp2 HG01261.hp2 HG02015.hp2 HG02895.hp2 HG02897.hp2 NA18945.hp2 NA18965.hp2 NA18984.hp1 NA19091.hp2 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0003 a0001c0001t0001g0049 a0001c0001t0001g0050 others(12): Show a0001c0001t0001g0003 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0187 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0002g0002 a0001c0001t0002g0038 a0001c0001t0002g0180 a0001c0001t0003g0051 a0001c0001t0004g0179	15	316	0.0475	29	c.53- others(46): Show c.53-18256_53-18228dupGTCTCTCTCTCCTGTCTCTCTCTTTCTC T	STK32A	ENSG00000169302.16	transcript	ENST00000397936.8	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
STK32B_chr4_5046480_5505989	5064375	T T	TATATAAT others(22): Show TATATAATATATAAATATATACTTATATAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA19043.hp1 HG02615.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0004 a0001c0003 a0002c0004	a0001c0003t0002 a0002c0004t0019 a0001c0003t0002 a0002c0004t0019	a0001c0003t0002g0034 a0002c0004t0019g0073 a0001c0003t0002g0034 a0002c0004t0019g0073	2	170	0.0118	29	c.52+ others(46): Show c.52+12544_52+12572dupATACATATAATATATAAATATATACTTA T	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STK32B_chr4_5046480_5505989	5470086	C C	CAGAACAT others(22): Show CAGAACATGCTTCAATTTGGATTCTTCCTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0158 a0001c0001t0002g0158	1	170	0.0059	29	c.110 others(48): Show c.1106+2017_1106+2045dupAGAACATGCTTCAATTTGGATTCTTC CTT	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STK32B_chr4_5046480_5505989	5489621	A A	ATTTATTT others(22): Show ATTTATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0101 a0002c0002t0003g0101	1	170	0.0059	29	c.110 others(48): Show c.1107-9321_1107-9320insATTTTTTTTTTTTTTTTTTTTTTTTT TTT	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STK32B_chr4_5046480_5505989	5489621	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0059 a0002c0002t0001g0059	1	170	0.0059	29	c.110 others(48): Show c.1107-9318_1107-9317insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STK33_chr11_8386870_8599228	8553172	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATGGTG	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0098 a0003c0005t0002g0098	1	334	0.0030	29	c.-46 others(50): Show c.-466+40882_-466+40910dupCACCATATATATATATATATATAT ATATA	STK33	ENSG00000130413.16	transcript	ENST00000687296.1	protein_coding	1/15			chr11	TogoVar

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