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(33): Show ATATATATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19090.hp2 NA19083.hp1 NA19090.hp2	a0002 a0004 a0002 a0004	a0002c0064 a0004c0014 a0002c0064 a0004c0014	a0002c0064t0002 a0004c0014t0001 a0002c0064t0002 a0004c0014t0001	a0002c0064t0002g0114 a0004c0014t0001g0103 a0002c0064t0002g0114 a0004c0014t0001g0103	2	412	0.0049	40	c.138 others(57): Show c.1387+451_1387+452insATATATATATATATATATATATATATAT ATTTTTTTTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSH1_chr12_108773191_108862583	108835881	A A	AATTAATT others(33): Show AATTAATTTATAATATAGTTATAATTAATTATATTAATATG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01257.hp1 HG01358.hp2 others(2): Show HG01081.hp1 HG01257.hp1 HG01358.hp2 NA18999.hp2 NA19009.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0043 a0001c0002t0001g0050 others(1): Show a0001c0002t0001g0003 a0001c0002t0001g0043 a0001c0002t0001g0050 a0001c0002t0001g0056	5	332	0.0151	40	c.111 others(59): Show c.111-12521_111-12520insCATATTAATATAATTAATTATAACTA TATTATAAATTAAT	SSH1	ENSG00000084112.15	transcript	ENST00000326495.10	protein_coding	2/14			chr12	TogoVar
SSH1_chr12_108773191_108862583	108850095	T T	TGAGCTGG others(33): Show TGAGCTGGGGGAGGGGAGATGGGGAGGGGAGCTCCAGGAGG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0210 a0001c0001t0004g0210	1	332	0.0030	40	c.110 others(57): Show c.110+2503_110+2542dupCCTCCTGGAGCTCCCCTCCCCATCTCCC CTCCCCCAGCTC	SSH1	ENSG00000084112.15	transcript	ENST00000326495.10	protein_coding	2/14			chr12	TogoVar
SSH2_chr17_29620938_29935228	29895242	A A	ATTATATA others(33): Show ATTATATATACATTTTATATATGAAATATATAAAATATATT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02074.hp1 HG02258.hp1 others(1): Show HG01952.hp1 HG02074.hp1 HG02258.hp1 NA18998.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0146 a0001c0001t0002g0229 a0002c0002t0002g0172 others(1): Show a0001c0001t0002g0146 a0001c0001t0002g0229 a0002c0002t0002g0172 a0002c0002t0002g0189	4	232	0.0172	40	c.63+ others(57): Show c.63+34656_63+34695dupAATATATTTTATATATTTCATATATAAA ATGTATATATAA	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15			chr17	TogoVar
SSX2_chrX_52691896_52712178	52708959	A A	AAAAGAAA others(33): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	98	0.0102	40	c.-18 others(51): Show c.-1869_-1868insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTT	SSX2	ENSG00000241476.9	transcript	ENST00000337502.6	protein_coding		1782		chrX	TogoVar
ST3GAL2_chr16_70370977_70444100	70410240	C C	CTTTTTTT others(33): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0022 a0001c0001t0063g0022	1	312	0.0032	40	c.-10 others(63): Show c.-1003-10708_-1003-10707insAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAA	ST3GAL2	ENSG00000157350.13	transcript	ENST00000342907.3	protein_coding	1/6			chr16	TogoVar
ST6GAL1_chr3_186925526_187083553	186984789	T T	TTCCTTCC others(33): Show TTCCTTCCTTCCTTCTCTCCCTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03471.hp2 HG03453.hp1 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0027 a0001c0003t0025 a0001c0002t0027 a0001c0003t0025	a0001c0002t0027g0055 a0001c0003t0025g0015 a0001c0002t0027g0055 a0001c0003t0025g0015	2	362	0.0055	40	c.-18 others(61): Show c.-183+20877_-183+20878insTCTCCCTCCCTCCCTCCCTCCCTC CCTCCTTCCTTCCTTC	ST6GAL1	ENSG00000073849.16	transcript	ENST00000169298.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
ST7_chr7_116948501_117235176	117023097	G G	GGAAATGT others(33): Show GGAAATGTCTTCATTTTCAAATATTGTATTGATTAAGTTGA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	188	0.0053	40	c.151 others(59): Show c.151+69407_151+69446dupGAAATGTCTTCATTTTCAAATATTGT ATTGATTAAGTTGA	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(33): Show AAAAGTAAAGTAAAGTAAAGTAAAGTAAAGTAAAGTAAAGT	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	188	0.0053	40	c.152 others(59): Show c.152-72262_152-72261insAGTAAAGTAAAGTAAAGTAAAGTAAA GTAAAGTAAAGTAA	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
ST8SIA5_chr18_46662821_46762053	46719682	T T	TTTTCTTT others(33): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00609.hp1 HG00738.hp1 others(32): Show HG00099.hp2 HG00609.hp1 HG00738.hp1 HG00738.hp2 HG01081.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp2 HG01975.hp2 HG01981.hp1 HG02004.hp2 HG02040.hp1 HG02083.hp1 HG02165.hp1 HG02717.hp1 HG02886.hp1 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04228.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18963.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA19004.hp2 NA19074.hp2 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0027 a0001c0001t0039 a0001c0001t0050 a0001c0001t0059 a0001c0001t0061 a0001c0001t0064 a0001c0001t0065 a0001c0001t0073 a0001c0001t0078 a0001c0001t0101 a0001c0001t0112 a0001c0001t0119 a0001c0001t0126 a0001c0001t0127	a0001c0001t0001g0031 a0001c0001t0001g0122 a0001c0001t0001g0243 others(32): Show a0001c0001t0001g0031 a0001c0001t0001g0122 a0001c0001t0001g0243 a0001c0001t0002g0137 a0001c0001t0002g0169 a0001c0001t0002g0173 a0001c0001t0003g0109 a0001c0001t0004g0345 a0001c0001t0004g0347 a0001c0001t0004g0357 a0001c0001t0005g0032 a0001c0001t0005g0132 a0001c0001t0005g0202 a0001c0001t0006g0192 a0001c0001t0006g0250 a0001c0001t0007g0354 a0001c0001t0008g0318 a0001c0001t0012g0179 a0001c0001t0013g0282 a0001c0001t0015g0204 a0001c0001t0016g0038 a0001c0001t0027g0048 a0001c0001t0039g0273 a0001c0001t0050g0052 a0001c0001t0059g0158 a0001c0001t0061g0248 a0001c0001t0064g0043 a0001c0001t0065g0225 a0001c0001t0073g0165 a0001c0001t0078g0177 a0001c0001t0101g0263 a0001c0001t0112g0336 a0001c0001t0119g0310 a0001c0001t0126g0306 a0001c0001t0127g0301	35	362	0.0967	40	c.132 others(59): Show c.132-15019_132-15018insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAA	ST8SIA5	ENSG00000101638.14	transcript	ENST00000315087.12	protein_coding	1/6			chr18	TogoVar
ST8SIA5_chr18_46662821_46762053	46719704	T T	TTCTTTCT others(33): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC	intron_variant intron_variant	MODIFIER	HG03927.hp1 NA20129.hp1 HG03927.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0024 a0001c0001t0002g0026 a0001c0001t0001g0024 a0001c0001t0002g0026	2	362	0.0055	40	c.132 others(59): Show c.132-15041_132-15040insGAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGA	ST8SIA5	ENSG00000101638.14	transcript	ENST00000315087.12	protein_coding	1/6			chr18	TogoVar
ST8SIA6_chr10_17310421_17459595	17374764	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	296	0.0034	40	c.291 others(59): Show c.291-15165_291-15164insGTGTATATATATATATATATATATAT ATATATATATATAT	ST8SIA6	ENSG00000148488.17	transcript	ENST00000377602.5	protein_coding	3/7			chr10	TogoVar
STAG1_chr3_136331236_136757378	136376016	C C	CAAAATAA others(33): Show CAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01123.hp1 NA18950.hp1 others(9): Show HG00741.hp1 HG01123.hp1 NA18950.hp1 NA18952.hp1 NA18965.hp1 NA18971.hp2 NA18973.hp2 NA18989.hp1 NA18990.hp2 NA19000.hp2 NA19005.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0040 others(9): Show a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0056 a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0231	12	240	0.0500	40	c.237 others(59): Show c.2370+1643_2370+1644insATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	23/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136565011	A A	AAGGAAGG others(33): Show AAGGAAGGAAGGAAGGAAGGCAGGCAGGCAGGCAGGCAGGC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01433.hp2 HG02486.hp1 others(2): Show HG01123.hp2 HG01433.hp2 HG02486.hp1 HG02572.hp1 HG02615.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0002 a0001c0002t0005 a0002c0003t0002 others(2): Show a0001c0001t0002 a0001c0002t0005 a0002c0003t0002 a0002c0003t0008 a0002c0003t0011	a0001c0001t0002g0158 a0001c0002t0005g0179 a0002c0003t0002g0152 others(2): Show a0001c0001t0002g0158 a0001c0002t0005g0179 a0002c0003t0002g0152 a0002c0003t0008g0012 a0002c0003t0011g0153	5	240	0.0208	40	c.394 others(57): Show c.394+3753_394+3754insGCCTGCCTGCCTGCCTGCCTGCCTTCCT TCCTTCCTTCCT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	5/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136565011	A A	AAGGAAGG others(33): Show AAGGAAGGAAGGAAGGCAGGCAGGCAGGCAGGCAGGCAGGC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01517.hp1 HG02015.hp2 others(3): Show HG00738.hp1 HG01517.hp1 HG02015.hp2 HG02896.hp2 HG02897.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0002 a0001c0002t0005 a0001c0002t0012 others(1): Show a0001c0002t0002 a0001c0002t0005 a0001c0002t0012 a0002c0003t0002	a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0002t0005g0175 others(3): Show a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0002t0005g0175 a0001c0002t0005g0176 a0001c0002t0012g0181 a0002c0003t0002g0155	6	240	0.0250	40	c.394 others(57): Show c.394+3753_394+3754insGCCTGCCTGCCTGCCTGCCTGCCTGCCT TCCTTCCTTCCT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	5/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136565011	A A	AAGGCAGG others(33): Show AAGGCAGGCAGGCAGGCAGGCAGGCAGGCAGGCAGGCAGGC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0177 a0001c0002t0005g0177	1	240	0.0042	40	c.394 others(57): Show c.394+3753_394+3754insGCCTGCCTGCCTGCCTGCCTGCCTGCCT GCCTGCCTGCCT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	5/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136702115	G G	GAGAGAGA others(33): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAC	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0138 a0001c0002t0002g0138	1	240	0.0042	40	c.-84 others(59): Show c.-84+50079_-84+50080insGTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	1/33			chr3	TogoVar
STAM2_chr2_152111801_152180763	152159094	C C	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01981.hp2 HG03195.hp2 others(1): Show HG01943.hp1 HG01981.hp2 HG03195.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0022 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0022 a0001c0002t0018	a0001c0001t0003g0225 a0001c0001t0004g0195 a0001c0001t0022g0194 others(1): Show a0001c0001t0003g0225 a0001c0001t0004g0195 a0001c0001t0022g0194 a0001c0002t0018g0153	4	360	0.0111	40	c.41- others(55): Show c.41-8866_41-8865insATATATATATATATATATATATATATATAT ATATATATAT	STAM2	ENSG00000115145.10	transcript	ENST00000263904.5	protein_coding	1/13			chr2	TogoVar
STAMBP_chr2_73823961_73872168	73832108	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0327 a0001c0001t0002g0327	1	368	0.0027	40	c.203 others(57): Show c.203+1050_203+1051insTATATATATATATATATATATATATATA TATATATATACA	STAMBP	ENSG00000124356.17	transcript	ENST00000394070.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AAAAAATA others(33): Show AAAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG02451.hp2 others(2): Show HG01256.hp1 HG01258.hp2 HG02451.hp2 HG02896.hp2 HG03540.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0006 a0001c0001 a0002c0002 a0005c0006	a0001c0001t0001 a0002c0002t0001 a0005c0006t0001 a0001c0001t0001 a0002c0002t0001 a0005c0006t0001	a0001c0001t0001g0211 a0001c0001t0001g0246 a0002c0002t0001g0048 others(2): Show a0001c0001t0001g0211 a0001c0001t0001g0246 a0002c0002t0001g0048 a0005c0006t0001g0053 a0005c0006t0001g0210	5	268	0.0187	40	c.210 others(57): Show c.2102+621_2102+622insATATATATATATATATATATATATATAT ATATATATTTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AAAATATA others(33): Show AAAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02896.hp1 HG01167.hp2 HG02896.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0244 a0002c0002t0001g0043 a0001c0001t0001g0244 a0002c0002t0001g0043	2	268	0.0075	40	c.210 others(57): Show c.2102+621_2102+622insATATATATATATATATATATATATATAT ATATATATATTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02922.hp1 HG01074.hp1 HG02922.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0113 a0002c0002t0001g0031 a0001c0001t0001g0113 a0002c0002t0001g0031	2	268	0.0075	40	c.210 others(57): Show c.2102+621_2102+622insATATATATATATATATATATATATATAT ATATATATATAT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56354016	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	268	0.0037	40	c.782 others(55): Show c.782+449_782+450insATATATATATATATATATATATATATATAT ATATATATAT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	8/23			chr12	TogoVar
STAT3_chr17_42308324_42393442	42338481	G G	GGACCTGA others(33): Show GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0290 a0001c0001t0003g0290	1	302	0.0033	40	c.550 others(55): Show c.550+249_550+250insAAGGAGTATTCCCTCAGGTCCAGGAGTATT CCCTCAGGTC	STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23			chr17	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	384	0.0026	40	c.762 others(59): Show c.762+35592_762+35593insAAAAAAAAAATATATATATATATATA TATATATATATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	384	0.0026	40	c.762 others(59): Show c.762+35592_762+35593insAAAAAAAAAAAATATATATATATATA TATATATATATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(33): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0273 a0002c0002t0002g0273	1	384	0.0026	40	c.762 others(59): Show c.762+35592_762+35593insAAAAAAAAAAAAAAAAAATATATATA TATATATATATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22464948	C C	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01243.hp2 HG01358.hp1 others(19): Show HG00639.hp1 HG01243.hp2 HG01358.hp1 HG01928.hp1 HG01952.hp1 HG01993.hp2 HG02622.hp2 HG02717.hp1 HG02895.hp2 HG02922.hp1 HG02976.hp2 HG03041.hp1 HG03139.hp1 HG03831.hp2 HG04184.hp2 NA18942.hp2 NA18962.hp2 NA18965.hp2 NA18972.hp1 NA18990.hp1 NA19002.hp1 NA19066.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0003c0003t0002 a0005c0005t0002	a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0139 others(19): Show a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0139 a0001c0001t0001g0147 a0001c0001t0002g0059 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0099 a0001c0001t0002g0124 a0002c0002t0001g0276 a0002c0002t0001g0296 a0002c0002t0001g0319 a0002c0002t0002g0228 a0002c0002t0002g0273 a0002c0002t0002g0287 a0002c0002t0002g0290 a0002c0002t0002g0312 a0003c0003t0001g0005 a0003c0003t0001g0184 a0003c0003t0001g0216 a0003c0003t0002g0183 a0005c0005t0002g0359	22	384	0.0573	40	c.762 others(59): Show c.762+27616_762+27617insATATATATATATATATATATATATAT ATATATATATATAT	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP4_chr7_88265892_88311894	88266819	C C	CACTTCCT others(33): Show CACTTCCTAGATGGGATGGCGGCCGGGAAGAGGCGCGCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG03209.hp1 HG02886.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0027 a0001c0001t0026 a0001c0001t0027	a0001c0001t0026g0040 a0001c0001t0027g0041 a0001c0001t0026g0040 a0001c0001t0027g0041	2	318	0.0063	40	c.12 others(53): Show c.12578_*12579insAAGGCGCGCCTCTTCCCGGCCGCCATCCCATC TAGGAAGT	STEAP4	ENSG00000127954.13	transcript	ENST00000380079.9	protein_coding		4072		chr7	TogoVar
STIM2_chr4_26855841_27030381	26885859	A A	ATATATAT others(33): Show ATATATATATATATGTATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	336	0.0030	40	c.151 others(59): Show c.151+24503_151+24504insGTATATATATATATATATATATATAT GTATATATATATAT	STIM2	ENSG00000109689.20	transcript	ENST00000467087.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STIM2_chr4_26855841_27030381	26885859	A A	ATATATAT others(33): Show ATATATATATATGTATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	336	0.0030	40	c.151 others(59): Show c.151+24501_151+24502insGTATATATATATATATATATATATAT ATGTATATATATAT	STIM2	ENSG00000109689.20	transcript	ENST00000467087.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STK10_chr5_172037079_172193224	172056935	A A	AAAAGAAA others(33): Show AAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG03139.hp2 HG03486.hp2 HG00639.hp1 HG03139.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0018 a0001c0002t0008 a0001c0002t0018	a0001c0002t0008g0016 a0001c0002t0008g0136 a0001c0002t0018g0005 a0001c0002t0008g0016 a0001c0002t0008g0136 a0001c0002t0018g0005	3	232	0.0129	40	c.233 others(57): Show c.2337+413_2337+414insCTTTCCTTCCTTCCTTCCTTCCTTCCTT CTTTCTTTCTTT	STK10	ENSG00000072786.13	transcript	ENST00000176763.10	protein_coding	15/18			chr5	TogoVar
STK10_chr5_172037079_172193224	172056935	A A	AAAAGAAA others(33): Show AAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0018 a0001c0007t0001g0018	1	232	0.0043	40	c.233 others(57): Show c.2337+413_2337+414insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CTTTCTTTCTTT	STK10	ENSG00000072786.13	transcript	ENST00000176763.10	protein_coding	15/18			chr5	TogoVar
STK10_chr5_172037079_172193224	172056942	A A	AGAAGGAA others(33): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03041.hp2 HG01884.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0009 a0001c0001t0001 a0001c0008t0009	a0001c0001t0001g0006 a0001c0008t0009g0231 a0001c0001t0001g0006 a0001c0008t0009g0231	2	232	0.0086	40	c.233 others(57): Show c.2337+406_2337+407insCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTC	STK10	ENSG00000072786.13	transcript	ENST00000176763.10	protein_coding	15/18			chr5	TogoVar
STK10_chr5_172037079_172193224	172056995	G G	GAAAGAAA others(33): Show GAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0007 a0007	a0007c0020 a0007c0020	a0007c0020t0001 a0007c0020t0001	a0007c0020t0001g0184 a0007c0020t0001g0184	1	232	0.0043	40	c.233 others(57): Show c.2337+353_2337+354insTTCTTTCTTTCTTTCTCTTTCTTTCTTT CTTTCTTTCTTT	STK10	ENSG00000072786.13	transcript	ENST00000176763.10	protein_coding	15/18			chr5	TogoVar
STK10_chr5_172037079_172193224	172056995	G G	GAAAGAAA others(33): Show GAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA19091.hp2 HG02109.hp2 NA19091.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0001 a0001c0005t0001 a0001c0003t0001 a0001c0005t0001	a0001c0003t0001g0078 a0001c0005t0001g0162 a0001c0003t0001g0078 a0001c0005t0001g0162	2	232	0.0086	40	c.233 others(57): Show c.2337+353_2337+354insTTCTTTCTTTCTTTCTTTCTCTTTCTTT CTTTCTTTCTTT	STK10	ENSG00000072786.13	transcript	ENST00000176763.10	protein_coding	15/18			chr5	TogoVar
STK10_chr5_172037079_172193224	172089399	T T	TGGATGGA others(33): Show TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0022 a0001c0010t0022	a0001c0010t0022g0081 a0001c0010t0022g0081	1	232	0.0043	40	c.168 others(57): Show c.1685+832_1685+833insTTCCATCCATCCATCCATCCATCCATCC ATCCATCCATCC	STK10	ENSG00000072786.13	transcript	ENST00000176763.10	protein_coding	10/18			chr5	TogoVar
STK10_chr5_172037079_172193224	172089407	T T	TGGATGGA others(33): Show TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0005 a0001c0002t0018g0005	1	232	0.0043	40	c.168 others(57): Show c.1685+824_1685+825insTTCCATCCATCCATCCATCCATCCATCC ATCCATCCATCC	STK10	ENSG00000072786.13	transcript	ENST00000176763.10	protein_coding	10/18			chr5	TogoVar
STK10_chr5_172037079_172193224	172171730	T T	TGAATAGA others(33): Show TGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01516.hp1 HG01884.hp1 others(3): Show HG01123.hp1 HG01516.hp1 HG01884.hp1 HG01981.hp2 HG02559.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0027 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0027 a0001c0002t0002 a0001c0002t0039 a0001c0003t0001 a0001c0005t0001	a0001c0001t0001g0006 a0001c0001t0027g0220 a0001c0002t0002g0186 others(3): Show a0001c0001t0001g0006 a0001c0001t0027g0220 a0001c0002t0002g0186 a0001c0002t0039g0028 a0001c0003t0001g0221 a0001c0005t0001g0123	6	232	0.0259	40	c.157 others(59): Show c.157-14943_157-14942insTATTCTATTCTATTCTATTCTATTCT ATTCTATTCTATTC	STK10	ENSG00000072786.13	transcript	ENST00000176763.10	protein_coding	1/18			chr5	TogoVar
STK31_chr7_23705219_23837513	23730878	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0169 a0003c0003t0001g0169	1	404	0.0025	40	c.483 others(57): Show c.483+1630_483+1631insATATATATATATATATATATATATATAT ATATATATTTTT	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(33): Show ATATATATATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0390 a0001c0004t0001g0390	1	404	0.0025	40	c.483 others(57): Show c.483+1630_483+1631insATATATATATATATATATATATATATAT TTTTTTTTTTTT	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(33): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0001 a0003c0015t0001	a0003c0015t0001g0172 a0003c0015t0001g0172	1	404	0.0025	40	c.483 others(57): Show c.483+1630_483+1631insATATATATATATATATATATATATATTT TTTTTTTTTTTT	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(33): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	404	0.0025	40	c.483 others(57): Show c.483+1630_483+1631insATATATATATATATATATATATATTTTT TTTTTTTTTTTT	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(33): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0086 a0003c0003t0001g0086	1	404	0.0025	40	c.483 others(57): Show c.483+1630_483+1631insATATATATATATATATATATATTTTTTT TTTTTTTTTTTT	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
STK32B_chr4_5046480_5505989	5370996	G G	GTGTGTGT others(33): Show GTGTGTGTGTGTGTGTGTGTATATATATATATATATGTATA	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0026 a0002c0002t0001g0026	1	170	0.0059	40	c.435 others(59): Show c.435-27210_435-27209insGTGTGTGTGTGTGTGTGTATATATAT ATATATATGTATAT	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STK33_chr11_8386870_8599228	8439869	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18984.hp1 NA19060.hp2 others(2): Show HG00609.hp1 NA18984.hp1 NA19060.hp2 NA19064.hp1 NA19083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0005 a0001c0002t0001 a0001c0002t0005	a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0212 others(2): Show a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0005g0235	5	334	0.0150	40	c.947 others(55): Show c.947+808_947+809insTATATATATATATATATATATATATATATA TATATATATA	STK33	ENSG00000130413.16	transcript	ENST00000687296.1	protein_coding	12/15			chr11	TogoVar
STOML2_chr9_35094778_35108131	35105463	G G	GGCTCATG others(33): Show GGCTCATGCTTGTAATCCAAACACTTTGGGAGGCTGAGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	428	0.0023	40	c.-23 others(51): Show c.-2370_-2369insTGCCTCAGCCTCCCAAAGTGTTTGGATTACAAGC ATGAGC	STOML2	ENSG00000165283.16	transcript	ENST00000356493.10	protein_coding		2333		chr9	TogoVar
STOML3_chr13_38960925_38995831	38987932	T T	TTATGTTA others(33): Show TTATGTTATATATAATATATTATATTTTATATAATATATTA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0167 a0001c0001t0002g0167	1	396	0.0025	40	c.52+ others(55): Show c.52+2698_52+2737dupTAATATATTATATAAAATATAATATATTAT ATATAACATA	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
STOML3_chr13_38960925_38995831	38988475	T T	TATATGAT others(33): Show TATATGATATTTTATATCATATATTTTATATAAAATATATG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0219 a0001c0001t0002g0219	1	396	0.0025	40	c.52+ others(55): Show c.52+2194_52+2195insCATATATTTTATATAAAATATATGATATAA AATATCATAT	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
STOML3_chr13_38960925_38995831	38988475	T T	TATATTAT others(33): Show TATATTATATTTTATATCATATATTTTATATAAAATATATG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	396	0.0025	40	c.52+ others(55): Show c.52+2194_52+2195insCATATATTTTATATAAAATATATGATATAA AATATAATAT	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar

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