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
SSPN_chr12_26190573_26239777	26201017	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0301 a0001c0001t0035g0301	1	384	0.0026	25	c.279 others(42): Show c.279+5067_279+5091dupTATATATATATATATATATATATAT	SSPN	ENSG00000123096.12	transcript	ENST00000242729.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
SSTR2_chr17_73160010_73181633	73171921	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00673.hp1 HG00673.hp2 NA19070.hp2 HG00673.hp1 HG00673.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0006 a0001c0001t0031g0051 a0001c0001t0031g0064 a0001c0001t0031g0006 a0001c0001t0031g0051 a0001c0001t0031g0064	3	454	0.0066	25	c.15 others(36): Show c.1504_*1528dupAAAAAAAAAAAAAAAAAAAAAAAAA	SSTR2	ENSG00000180616.9	transcript	ENST00000357585.4	protein_coding	2/2	1529	INFO_REALIGN_3_PRIME	chr17	TogoVar
SSU72L6_chr7_124471317_124482664	124479016	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG02451.hp1 HG00673.hp2 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	466	0.0043	25	c.20 others(36): Show c.2061_*2062insAAAAAAAAAAAAAAAAAAAAAAAAA	SSU72L6	ENSG00000230268.4	transcript	ENST00000473520.2	protein_coding		1353		chr7	TogoVar
SSX4B_chrX_48397082_48416960	48413935	A A	AGAAGGGA others(18): Show AGAAGGGAAGGGAAGGGAAGGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	180	0.0056	25	c.-20 others(36): Show c.-2095_-2094insCCTTCCCTTCCCTTCCCTTCCCTTC	SSX4B	ENSG00000269791.6	transcript	ENST00000595235.6	protein_coding		1976		chrX	TogoVar
SSX4B_chrX_48397082_48416960	48413991	G G	GGGAAGGG others(18): Show GGGAAGGGAAGGGAAGGGAAGGGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02647.hp1 NA18906.hp2 HG02257.hp2 HG02647.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0013 a0001c0001t0003g0021 a0001c0001t0003g0013 a0001c0001t0003g0021	3	180	0.0167	25	c.-21 others(36): Show c.-2151_-2150insTTTCCCTTCCCTTCCCTTCCCTTCC	SSX4B	ENSG00000269791.6	transcript	ENST00000595235.6	protein_coding		2032		chrX	TogoVar
SSX4_chrX_48378539_48398347	48381275	A A	ATTCCTTT others(18): Show ATTCCTTTTCTCTTCTTTTTCTTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0021 a0001c0001t0003g0021	1	104	0.0096	25	c.-23 others(36): Show c.-2310_-2309insTTCCTTTTCTCTTCTTTTTCTTCCC	SSX4	ENSG00000268009.6	transcript	ENST00000595689.3	protein_coding		2263		chrX	TogoVar
SSX4_chrX_48378539_48398347	48381452	T T	TTTCCCTT others(18): Show TTTCCCTTCCCTTCCCTTCCCTTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0033 a0001c0001t0003g0033	1	104	0.0096	25	c.-21 others(36): Show c.-2133_-2132insTTCCCTTCCCTTCCCTTCCCTTCCC	SSX4	ENSG00000268009.6	transcript	ENST00000595689.3	protein_coding		2086		chrX	TogoVar
ST13_chr22_40819535_40861639	40820663	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 NA19074.hp2 NA19076.hp2 HG01256.hp2 NA19074.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0040 a0001c0001t0003g0009 a0001c0001t0003g0202 a0001c0001t0001g0040 a0001c0001t0003g0009 a0001c0001t0003g0202	3	344	0.0087	25	c.58 others(36): Show c.5874_*5875insTTTTTTTTTTTTTTTTTTTTTTTTT	ST13	ENSG00000100380.15	transcript	ENST00000216218.8	protein_coding		3871		chr22	TogoVar
ST6GAL1_chr3_186925526_187083553	186984743	C C	CCTTCCTC others(18): Show CCTTCCTCCCTTCCTTCCTTCCTTCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00423.hp2 others(53): Show HG00140.hp1 HG00280.hp1 HG00423.hp2 HG00544.hp2 HG00609.hp1 HG00673.hp1 HG00738.hp1 HG00738.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01256.hp2 HG01361.hp1 HG01516.hp2 HG01884.hp1 HG01993.hp2 HG02040.hp2 HG02055.hp2 HG02148.hp2 HG02257.hp1 HG02258.hp2 HG02300.hp2 HG02451.hp1 HG02559.hp2 HG02698.hp2 HG02723.hp1 HG02922.hp1 HG02970.hp2 HG03139.hp2 HG03195.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03669.hp1 HG03704.hp1 HG03834.hp2 HG04115.hp1 HG04184.hp1 HG04228.hp2 NA18948.hp2 NA18971.hp2 NA18974.hp1 NA18981.hp1 NA19003.hp1 NA19089.hp1 NA19240.hp2 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0001t0021 a0001c0001t0032 a0001c0001t0035 a0001c0001t0051 a0001c0001t0055 a0001c0001t0066 a0001c0001t0077 a0001c0002t0008 a0001c0002t0020 a0001c0002t0022 a0001c0003t0017 a0001c0003t0019 a0001c0003t0074 a0001c0004t0023 a0001c0004t0031 a0001c0004t0038 a0001c0005t0026 a0001c0006t0072 a0001c0008t0002	a0001c0001t0001g0074 a0001c0001t0001g0089 a0001c0001t0001g0139 others(53): Show a0001c0001t0001g0074 a0001c0001t0001g0089 a0001c0001t0001g0139 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0220 a0001c0001t0001g0232 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0268 a0001c0001t0002g0297 a0001c0001t0002g0338 a0001c0001t0003g0157 a0001c0001t0003g0168 a0001c0001t0003g0174 a0001c0001t0003g0191 a0001c0001t0003g0194 a0001c0001t0003g0218 a0001c0001t0003g0224 a0001c0001t0004g0069 a0001c0001t0004g0307 a0001c0001t0004g0325 a0001c0001t0004g0341 a0001c0001t0005g0151 a0001c0001t0005g0217 a0001c0001t0006g0206 a0001c0001t0009g0066 a0001c0001t0011g0088 a0001c0001t0011g0238 a0001c0001t0013g0293 a0001c0001t0013g0314 a0001c0001t0016g0008 a0001c0001t0016g0011 a0001c0001t0021g0116 a0001c0001t0032g0114 a0001c0001t0035g0039 a0001c0001t0051g0171 a0001c0001t0055g0219 a0001c0001t0066g0005 a0001c0001t0077g0195 a0001c0002t0008g0027 a0001c0002t0008g0034 a0001c0002t0008g0143 a0001c0002t0020g0019 a0001c0002t0022g0028 a0001c0003t0017g0025 a0001c0003t0019g0035 a0001c0003t0019g0115 a0001c0003t0074g0068 a0001c0004t0023g0026 a0001c0004t0031g0126 a0001c0004t0038g0339 a0001c0005t0026g0070 a0001c0006t0072g0331 a0001c0008t0002g0337	56	362	0.1547	25	c.-18 others(46): Show c.-183+20819_-183+20820insTCCTCCCTTCCTTCCTTCCTTCTC T	ST6GAL1	ENSG00000073849.16	transcript	ENST00000169298.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
ST6GALNAC2_chr17_76560377_76590860	76563753	C C	CTTTATTT others(18): Show CTTTATTTTATTTTATTTTATTTTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0015 a0001c0001t0006g0015	1	426	0.0024	25	c.23 others(36): Show c.2326_*2350dupATAAAATAAAATAAAATAAAATAAA	ST6GALNAC2	ENSG00000070731.11	transcript	ENST00000225276.10	protein_coding		1623		chr17	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77070774	A A	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0148 a0001c0001t0004g0148	1	202	0.0050	25	c.75 others(36): Show c.7568_*7569insTATATATATATATATATATTTTTTT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding		3229		chr1	TogoVar
ST7_chr7_116948501_117235176	117027463	A A	AAAAGTAA others(18): Show AAAAGTAAAGTAAAGTAAAGTAAAGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00438.hp1 others(30): Show HG00280.hp1 HG00280.hp2 HG00438.hp1 HG00741.hp2 HG01496.hp1 HG01496.hp2 HG01978.hp1 HG01978.hp2 HG02027.hp2 HG02273.hp2 HG02300.hp1 HG02572.hp2 HG02683.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03195.hp2 HG03492.hp1 HG03516.hp1 HG03579.hp1 HG04184.hp1 HG04184.hp2 NA18747.hp2 NA18951.hp1 NA18973.hp2 NA18982.hp1 NA19000.hp1 NA19011.hp2 NA19012.hp2 NA19086.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0064 a0001c0001t0001g0065 others(30): Show a0001c0001t0001g0004 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0132 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0152 a0001c0001t0001g0157 a0001c0001t0001g0166 a0001c0001t0001g0171 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0187	33	188	0.1755	25	c.152 others(44): Show c.152-72286_152-72262dupAGTAAAGTAAAGTAAAGTAAAGTAA	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
ST8SIA5_chr18_46662821_46762053	46725972	A A	AAAAAAAT others(18): Show AAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02886.hp2 NA19030.hp2 HG02451.hp2 HG02886.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0052 a0001c0001t0042 a0001c0001t0052	a0001c0001t0042g0343 a0001c0001t0042g0344 a0001c0001t0052g0066 a0001c0001t0042g0343 a0001c0001t0042g0344 a0001c0001t0052g0066	3	362	0.0083	25	c.132 others(44): Show c.132-21309_132-21308insATATATATATATATATATATTTTTT	ST8SIA5	ENSG00000101638.14	transcript	ENST00000315087.12	protein_coding	1/6			chr18	TogoVar
ST8SIA5_chr18_46662821_46762053	46725984	T T	TATATATA others(18): Show TATATATATATATATATATATCCTGG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	362	0.0028	25	c.132 others(44): Show c.132-21321_132-21320insCCAGGATATATATATATATATATAT	ST8SIA5	ENSG00000101638.14	transcript	ENST00000315087.12	protein_coding	1/6			chr18	TogoVar
ST8SIA5_chr18_46662821_46762053	46725996	T T	TATATATA others(18): Show TATATATATATATATATATATCCTGG	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18957.hp1 NA18957.hp2 HG00609.hp2 NA18957.hp1 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0103 a0001c0001t0001g0150 a0001c0001t0003g0142 a0001c0001t0001g0103 a0001c0001t0001g0150 a0001c0001t0003g0142	3	362	0.0083	25	c.132 others(44): Show c.132-21333_132-21332insCCAGGATATATATATATATATATAT	ST8SIA5	ENSG00000101638.14	transcript	ENST00000315087.12	protein_coding	1/6			chr18	TogoVar
ST8SIA6_chr10_17310421_17459595	17324754	T T	TCATGGTA others(18): Show TCATGGTATGTACCATACCATGCATG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01975.hp1 HG02055.hp2 others(9): Show HG01243.hp2 HG01975.hp1 HG02055.hp2 HG02109.hp1 HG02451.hp2 HG02559.hp1 HG02886.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03471.hp1 NA19001.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0002 a0001c0001 a0001c0006 a0002c0002	a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 others(5): Show a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0006t0001 a0002c0002t0006 a0002c0002t0017	a0001c0001t0011g0213 a0001c0001t0012g0047 a0001c0001t0012g0175 others(9): Show a0001c0001t0011g0213 a0001c0001t0012g0047 a0001c0001t0012g0175 a0001c0001t0012g0269 a0001c0001t0015g0035 a0001c0001t0015g0143 a0001c0001t0017g0265 a0001c0001t0018g0293 a0001c0001t0018g0294 a0001c0006t0001g0109 a0002c0002t0006g0002 a0002c0002t0017g0017	12	296	0.0405	25	c.636 others(42): Show c.636-1622_636-1598dupCATGCATGGTATGGTACATACCATG	ST8SIA6	ENSG00000148488.17	transcript	ENST00000377602.5	protein_coding	6/7			chr10	TogoVar
ST8SIA6_chr10_17310421_17459595	17347953	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18951.hp1 NA18971.hp1 others(2): Show NA18906.hp2 NA18951.hp1 NA18971.hp1 NA18998.hp2 NA19063.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0001c0001t0029 a0002c0002t0003 a0001c0001t0005 a0001c0001t0029 a0002c0002t0003	a0001c0001t0005g0022 a0001c0001t0005g0028 a0001c0001t0005g0041 others(2): Show a0001c0001t0005g0022 a0001c0001t0005g0028 a0001c0001t0005g0041 a0001c0001t0029g0030 a0002c0002t0003g0007	5	296	0.0169	25	c.377 others(44): Show c.377+11560_377+11561insTTTTTTTTTTTTTTTTTTTTTTTTT	ST8SIA6	ENSG00000148488.17	transcript	ENST00000377602.5	protein_coding	4/7			chr10	TogoVar
STAB1_chr3_52490338_52529495	52518906	C C	CCCCGCCC others(18): Show CCCCGCCCCGCCCCGCCCCGCCCCGT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp1 HG00738.hp1 others(12): Show HG00323.hp1 HG00642.hp1 HG00738.hp1 HG01074.hp2 HG01106.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01433.hp2 HG02109.hp1 HG02818.hp1 HG03195.hp1	a0002 a0003 a0035 a0002 a0003 a0035	a0002c0003 a0002c0014 a0003c0007 others(1): Show a0002c0003 a0002c0014 a0003c0007 a0035c0075	a0002c0003t0001 a0002c0014t0001 a0003c0007t0001 others(1): Show a0002c0003t0001 a0002c0014t0001 a0003c0007t0001 a0035c0075t0001	a0002c0003t0001g0013 a0002c0003t0001g0033 a0002c0003t0001g0102 others(9): Show a0002c0003t0001g0013 a0002c0003t0001g0033 a0002c0003t0001g0102 a0002c0003t0001g0103 a0002c0003t0001g0104 a0002c0003t0001g0106 a0002c0014t0001g0013 a0002c0014t0001g0076 a0002c0014t0001g0093 a0002c0014t0001g0107 a0003c0007t0001g0035 a0035c0075t0001g0033	15	368	0.0408	25	c.503 others(40): Show c.5034+50_5034+51insGCCCCGCCCCGTCCCGCCCCGCCCC	STAB1	ENSG00000010327.10	transcript	ENST00000321725.10	protein_coding	48/68		INFO_REALIGN_3_PRIME	chr3	TogoVar
STAB2_chr12_103582273_103771719	103664112	A A	AGTTTTGT others(18): Show AGTTTTGTTTTGTTTTGTTTTGTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA19068.hp2 HG02027.hp1 NA19068.hp2	a0002 a0002	a0002c0011 a0002c0037 a0002c0011 a0002c0037	a0002c0011t0001 a0002c0037t0001 a0002c0011t0001 a0002c0037t0001	a0002c0011t0001g0207 a0002c0037t0001g0161 a0002c0011t0001g0207 a0002c0037t0001g0161	2	256	0.0078	25	c.202 others(44): Show c.2022+1134_2022+1135insGTTTTGTTTTGTTTTGTTTTGTTTT	STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding	18/68		INFO_REALIGN_3_PRIME	chr12	TogoVar
STAC2_chr17_39205541_39230945	39219242	T T	TCTCAATT others(18): Show TCTCAATTCATTGAGAATTGAGAATC	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18975.hp2 NA19007.hp2 NA18959.hp2 NA18975.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0135 a0001c0001t0002g0136 a0001c0001t0004g0134 a0001c0001t0001g0135 a0001c0001t0002g0136 a0001c0001t0004g0134	3	368	0.0082	25	c.91- others(40): Show c.91-1094_91-1070dupGATTCTCAATTCTCAATGAATTGAG	STAC2	ENSG00000141750.7	transcript	ENST00000333461.6	protein_coding	1/10			chr17	TogoVar
STAC_chr3_36375504_36553007	36492031	A A	AAAAAAAA others(18): Show AAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0147 a0001c0001t0002g0147	1	316	0.0032	25	c.688 others(42): Show c.688-1119_688-1118insAAAAAAAAATATATATATATATATA	STAC	ENSG00000144681.11	transcript	ENST00000273183.8	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
STAC_chr3_36375504_36553007	36492031	A A	AAAAAAAA others(18): Show AAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	316	0.0032	25	c.688 others(42): Show c.688-1119_688-1118insAAAAAAATATATATATATATATATA	STAC	ENSG00000144681.11	transcript	ENST00000273183.8	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
STAC_chr3_36375504_36553007	36492031	A A	AAAAAAAT others(18): Show AAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0167 a0001c0001t0002g0167	1	316	0.0032	25	c.688 others(42): Show c.688-1119_688-1118insAAAAATATATATATATATATATATA	STAC	ENSG00000144681.11	transcript	ENST00000273183.8	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
STAG1_chr3_136331236_136757378	136376016	C C	CAAAATAA others(18): Show CAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01070.hp2 HG01081.hp2 others(10): Show HG00733.hp2 HG01070.hp2 HG01081.hp2 HG01099.hp2 HG01346.hp2 HG02559.hp1 HG02698.hp2 HG03139.hp2 HG03486.hp2 HG03942.hp1 HG04115.hp2 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 a0001c0002t0002	a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0030 others(10): Show a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0049 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0002g0086 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0016g0236 a0001c0002t0002g0161	13	240	0.0542	25	c.237 others(44): Show c.2370+1619_2370+1643dupATTTTATTTTATTTTATTTTATTTT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	23/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136396520	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA18950.hp2 HG02523.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0214 a0001c0001t0003g0220 a0001c0001t0003g0214 a0001c0001t0003g0220	2	240	0.0083	25	c.227 others(44): Show c.2277+2204_2277+2228dupAAAAAAAAAAAAAAAAAAAAAAAAA	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	22/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136418360	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	240	0.0042	25	c.210 others(42): Show c.2109-413_2109-389dupTTTTTTTTTTTTTTTTTTTTTTTTT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	20/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136498210	T T	TATATATA others(18): Show TATATATATATATATATATATATACA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0019 a0001c0001t0020g0019	1	240	0.0042	25	c.902 others(42): Show c.902+2012_902+2013insTGTATATATATATATATATATATAT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	9/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136498210	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA18984.hp2 HG02135.hp1 NA18984.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0128 a0001c0002t0002g0138 a0001c0002t0002g0128 a0001c0002t0002g0138	2	240	0.0083	25	c.902 others(42): Show c.902+2012_902+2013insTATATATATATATATATATATATAT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	9/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136658151	C C	CCTGATCA others(18): Show CCTGATCATACACTGAGCTATGATCG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02818.hp1 HG03471.hp1 others(1): Show HG01243.hp1 HG02818.hp1 HG03471.hp1 NA18522.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0139 a0002c0003t0002g0140 a0002c0003t0002g0141 others(1): Show a0002c0003t0002g0139 a0002c0003t0002g0140 a0002c0003t0002g0141 a0002c0003t0002g0142	4	240	0.0167	25	c.-83 others(44): Show c.-83-27171_-83-27170insCGATCATAGCTCAGTGTATGATCAG	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	1/33			chr3	TogoVar
STAM_chr10_17639151_17721824	17639402	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0043 a0001c0001t0005g0043	1	426	0.0024	25	c.-49 others(36): Show c.-4938_-4937insTTTTTTTTTTTTTTTTTTTTTTTTT	STAM	ENSG00000136738.15	transcript	ENST00000377524.8	protein_coding		4748		chr10	TogoVar
STARD13_chr13_33098137_33290755	33240683	T T	TATCCTTA others(18): Show TATCCTTAAGTATTTTATCCTTAAGG	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02293.hp2 HG01515.hp2 HG02293.hp2	a0001 a0002 a0001 a0002	a0001c0026 a0002c0003 a0001c0026 a0002c0003	a0001c0026t0001 a0002c0003t0023 a0001c0026t0001 a0002c0003t0023	a0001c0026t0001g0192 a0002c0003t0023g0223 a0001c0026t0001g0192 a0002c0003t0023g0223	2	302	0.0066	25	c.169 others(44): Show c.169+44762_169+44786dupCCTTAAGGATAAAATACTTAAGGAT	STARD13	ENSG00000133121.21	transcript	ENST00000336934.10	protein_coding	1/13			chr13	TogoVar
STARD7_chr2_96179859_96213827	96197066	C C	CAAAATAA others(18): Show CAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01358.hp2 HG02148.hp1 others(3): Show HG01255.hp2 HG01358.hp2 HG02148.hp1 HG03654.hp2 HG06807.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0005 a0001c0001 a0002c0003 a0002c0005	a0001c0001t0001 a0001c0001t0006 a0002c0003t0002 others(1): Show a0001c0001t0001 a0001c0001t0006 a0002c0003t0002 a0002c0005t0002	a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0006g0015 others(2): Show a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0006g0015 a0002c0003t0002g0197 a0002c0005t0002g0053	6	358	0.0168	25	c.291 others(42): Show c.291-1542_291-1518dupATTTTATTTTATTTTATTTTATTTT	STARD7	ENSG00000084090.14	transcript	ENST00000337288.10	protein_coding	1/7			chr2	TogoVar
STARD7_chr2_96179859_96213827	96197069	A A	ACTAAACT others(18): Show ACTAAACTAACCTAACCTAAACTAAC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0027 a0002c0002t0027	a0002c0002t0027g0224 a0002c0002t0027g0224	1	358	0.0028	25	c.291 others(42): Show c.291-1521_291-1520insGTTAGTTTAGGTTAGGTTAGTTTAG	STARD7	ENSG00000084090.14	transcript	ENST00000337288.10	protein_coding	1/7			chr2	TogoVar
STARD9_chr15_42570606_42725998	42710206	T T	TATTTTTG others(18): Show TATTTTTGTTTTCTAGAGATGCCCGG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0023 a0023	a0023c0048 a0023c0048	a0023c0048t0002 a0023c0048t0002	a0023c0048t0002g0071 a0023c0048t0002g0071	1	210	0.0048	25	c.132 others(46): Show c.13285-6471_13285-6470insATTTTTGTTTTCTAGAGATGCCCG G	STARD9	ENSG00000159433.12	transcript	ENST00000290607.12	protein_coding	26/32			chr15	TogoVar
STAT2_chr12_56336597_56365107	56345522	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0001 a0009c0009t0001	a0009c0009t0001g0167 a0009c0009t0001g0167	1	268	0.0037	25	c.210 others(42): Show c.2102+623_2102+624insATATATATATATATATATATATATA	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AAAAAAAT others(18): Show AAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	268	0.0037	25	c.210 others(42): Show c.2102+621_2102+622insATATATATATATATATATATTTTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	268	0.0037	25	c.210 others(42): Show c.2102+621_2102+622insATATATATATATATATATATATTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AAATATAT others(18): Show AAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02523.hp1 HG02109.hp2 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0235 a0001c0001t0001g0079 a0001c0001t0001g0235	2	268	0.0075	25	c.210 others(42): Show c.2102+621_2102+622insATATATATATATATATATATATATT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56354012	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	268	0.0037	25	c.782 others(40): Show c.782+453_782+454insATATATATATATATATATATATATA	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	8/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56354016	A A	AAAAAAAA others(18): Show AAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	268	0.0037	25	c.782 others(40): Show c.782+449_782+450insATATATATATATATATATTTTTTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	8/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56354016	A A	AAATATAT others(18): Show AAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA18971.hp2 HG01243.hp1 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0223 a0001c0001t0001g0137 a0001c0001t0001g0223	2	268	0.0075	25	c.782 others(40): Show c.782+449_782+450insATATATATATATATATATATATATT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	8/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56354016	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03492.hp2 NA20905.hp2 HG03492.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0184 a0001c0001t0001g0127 a0001c0001t0001g0184	2	268	0.0075	25	c.782 others(40): Show c.782+449_782+450insATATATATATATATATATATATATA	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	8/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56363211	A A	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG03041.hp2 HG03130.hp1 HG02109.hp1 HG03041.hp2 HG03130.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0215 a0001c0001t0002g0011 a0002c0002t0001g0034 a0001c0001t0001g0215 a0001c0001t0002g0011 a0002c0002t0001g0034	3	268	0.0112	25	c.-31 others(36): Show c.-3162_-3161insATATATATATATATATATATATTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding		3105		chr12	TogoVar
STAT2_chr12_56336597_56365107	56363211	A A	AAATATAT others(18): Show AAATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG02451.hp2 NA19043.hp1 others(1): Show HG01167.hp2 HG02451.hp2 NA19043.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0002c0002t0001	a0001c0001t0001g0244 a0001c0001t0002g0014 a0001c0001t0012g0016 others(1): Show a0001c0001t0001g0244 a0001c0001t0002g0014 a0001c0001t0012g0016 a0002c0002t0001g0048	4	268	0.0149	25	c.-31 others(36): Show c.-3162_-3161insATATATATATATATATATATATATT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding		3105		chr12	TogoVar
STAT5B_chr17_42194177_42281391	42265377	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01981.hp1 HG03490.hp2 others(3): Show HG00642.hp2 HG01981.hp1 HG03490.hp2 HG04204.hp1 NA19076.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0152 a0001c0001t0001g0196 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0152 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0202 a0001c0001t0001g0204	6	260	0.0231	25	c.-11 others(44): Show c.-11+10870_-11+10871insAAAAAAAAAAAAAAAAAAAAAAAAA	STAT5B	ENSG00000173757.11	transcript	ENST00000293328.8	protein_coding	1/18			chr17	TogoVar
STAU1_chr20_49108339_49193334	49126576	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAACAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	366	0.0027	25	c.610 others(42): Show c.610-1990_610-1989insGTTTTTTTTTTTGTTTTTTTTTTTT	STAU1	ENSG00000124214.21	transcript	ENST00000371856.7	protein_coding	6/13			chr20	TogoVar
STAU1_chr20_49108339_49193334	49126577	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAACAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02559.hp2 HG02280.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0180 a0001c0001t0001g0164 a0001c0001t0001g0180	2	366	0.0055	25	c.610 others(42): Show c.610-1991_610-1990insGTTTTTTTTTTTGTTTTTTTTTTTT	STAU1	ENSG00000124214.21	transcript	ENST00000371856.7	protein_coding	6/13			chr20	TogoVar
STAU1_chr20_49108339_49193334	49126586	A A	ACAAAAAA others(18): Show ACAAAAAAAAAAAACAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0225 a0001c0001t0002g0225	1	366	0.0027	25	c.610 others(42): Show c.610-2000_610-1999insGTTTTTTTTTTGTTTTTTTTTTTTG	STAU1	ENSG00000124214.21	transcript	ENST00000371856.7	protein_coding	6/13			chr20	TogoVar
STAU1_chr20_49108339_49193334	49126588	C C	CAAAAAAA others(18): Show CAAAAAAAAAAACAAAAAAAAAACAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03453.hp1 HG02970.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0072 a0001c0001t0003g0073	2	366	0.0055	25	c.610 others(42): Show c.610-2002_610-2001insTTGTTTTTTTTTTGTTTTTTTTTTT	STAU1	ENSG00000124214.21	transcript	ENST00000371856.7	protein_coding	6/13			chr20	TogoVar
STAU1_chr20_49108339_49193334	49134432	G G	GAAAAAAA others(18): Show GAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	366	0.0027	25	c.609 others(42): Show c.609+1400_609+1401insTTTTTTTTTTTTTTTTTTTTTTTTT	STAU1	ENSG00000124214.21	transcript	ENST00000371856.7	protein_coding	6/13			chr20	TogoVar

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