Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SS18_chr18_26011253_26095613	26027703	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAAAAGAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	208	0.0048	27	c.123 others(46): Show c.1230+4695_1230+4696insGTCTTTTTTTTTTTTTTTTTTTTTTT T	SS18	ENSG00000141380.14	transcript	ENST00000415083.7	protein_coding	10/10			chr18	TogoVar
SSBP2_chr5_81407804_81756097	81415922	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAGAAAAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03139.hp2 NA19043.hp2 HG03139.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0048 a0001c0001t0026g0190 a0001c0001t0026g0048 a0001c0001t0026g0190	2	72	0.0278	27	c.45 others(38): Show c.4581_*4582insCTTTTCTTTTTTTTTTTTTTTTTTTTT	SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	17/17	4581		chr5	TogoVar
SSBP3_chr1_54220432_54411394	54235448	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0091 a0001c0001t0014g0091	1	126	0.0079	27	c.927 others(44): Show c.927+3680_927+3681insAAAAAAAAAAAAAAAAAAAAAAAAAAA	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	14/17			chr1	TogoVar
SSBP3_chr1_54220432_54411394	54386683	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01243.hp2 HG02630.hp1 HG00280.hp1 HG01243.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0121 a0001c0001t0002g0155 a0001c0001t0011g0016 a0001c0001t0002g0121 a0001c0001t0002g0155 a0001c0001t0011g0016	3	78	0.0385	27	c.276 others(46): Show c.276+15177_276+15178insAAAAAAAAAAAAAAAAAAAAAAAAAA A	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17			chr1	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0243 a0005c0005t0001g0243	1	190	0.0053	27	c.138 others(44): Show c.1387+451_1387+452insATATATATATATATATATATATTTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG03041.hp2 NA18973.hp1 HG01361.hp1 HG03041.hp2 NA18973.hp1	a0005 a0020 a0005 a0020	a0005c0005 a0020c0044 a0005c0005 a0020c0044	a0005c0005t0001 a0020c0044t0001 a0005c0005t0001 a0020c0044t0001	a0005c0005t0001g0220 a0005c0005t0001g0378 a0020c0044t0001g0385 a0005c0005t0001g0220 a0005c0005t0001g0378 a0020c0044t0001g0385	3	192	0.0156	27	c.138 others(44): Show c.1387+451_1387+452insATATATATATATATATATATTTTTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(20): Show ATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0059 a0002c0003t0003g0059	1	190	0.0053	27	c.138 others(44): Show c.1387+451_1387+452insATATATATATATATATATTTTTTTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(20): Show ATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01978.hp1 HG01975.hp1 HG01978.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0203 a0005c0005t0001g0224 a0005c0005t0001g0203 a0005c0005t0001g0224	2	191	0.0105	27	c.138 others(44): Show c.1387+451_1387+452insATATATATATATATATTTTTTTTTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(20): Show ATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0054 a0054	a0054c0087 a0054c0087	a0054c0087t0004 a0054c0087t0004	a0054c0087t0004g0247 a0054c0087t0004g0247	1	190	0.0053	27	c.138 others(44): Show c.1387+451_1387+452insATATATATATATATTTTTTTTTTTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495234	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02735.hp1 HG01167.hp1 HG02735.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0003 a0002c0003t0001 a0002c0003t0003	a0002c0003t0001g0057 a0002c0003t0003g0056 a0002c0003t0001g0057 a0002c0003t0003g0056	2	343	0.0058	27	c.138 others(44): Show c.1387+451_1387+452insATATATATATATATATATATATATATA	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13			chr19	TogoVar
SSH2_chr17_29620938_29935228	29913347	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAATTATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 NA19030.hp1 HG01081.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0016 a0001c0001t0001g0017	2	86	0.0233	27	c.63+ others(44): Show c.63+16590_63+16591insATATATATATAATTTTTTTTTTTTTTT	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15			chr17	TogoVar
SSPN_chr12_26190573_26239777	26201031	A A	ATTATATA others(20): Show ATTATATATATATATAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02886.hp1 HG01884.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0033 a0001c0002t0028 a0001c0002t0033	a0001c0002t0028g0160 a0001c0002t0033g0162 a0001c0002t0028g0160 a0001c0002t0033g0162	2	333	0.0060	27	c.279 others(44): Show c.279+5081_279+5082insTATATATATATATAATATATATATATT	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(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0149 a0001c0001t0149	a0001c0001t0149g0118 a0001c0001t0149g0118	1	76	0.0132	27	c.15 others(38): Show c.1502_*1528dupAAAAAAAAAAAAAAAAAAAAAAAAAAA	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(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG00738.hp2 others(4): Show HG00099.hp2 HG00639.hp1 HG00738.hp2 HG01361.hp2 HG02055.hp1 HG03579.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0000 a0001c0001t0009g0000 a0001c0001t0001g0000 a0001c0001t0009g0000	7	290	0.0241	27	c.20 others(38): Show c.2061_*2062insAAAAAAAAAAAAAAAAAAAAAAAAAAA	SSU72L6	ENSG00000230268.4	transcript	ENST00000473520.2	protein_coding		1353		chr7	TogoVar
ST13_chr22_40819535_40861639	40820663	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02738.hp1 HG02970.hp2 others(2): Show HG02723.hp1 HG02738.hp1 HG02970.hp2 HG02976.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0058 others(2): Show a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0058 a0001c0001t0001g0109 a0001c0001t0001g0190	5	149	0.0336	27	c.58 others(38): Show c.5874_*5875insTTTTTTTTTTTTTTTTTTTTTTTTTTT	ST13	ENSG00000100380.15	transcript	ENST00000216218.8	protein_coding		3871		chr22	TogoVar
ST3GAL2_chr16_70370977_70444100	70410240	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA19081.hp2 HG03710.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0070 a0001c0001t0002g0004 a0001c0001t0002g0070	2	93	0.0215	27	c.-10 others(50): Show c.-1003-10734_-1003-10708dupAAAAAAAAAAAAAAAAAAAAAA AAAAA	ST3GAL2	ENSG00000157350.13	transcript	ENST00000342907.3	protein_coding	1/6			chr16	TogoVar
ST3GAL3_chr1_43702536_43936159	43740212	A A	AAGATATC others(20): Show AAGATATCTACACACAGCAACTAGGATT	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	272	0.0037	27	c.118 others(44): Show c.118+3833_118+3834insGATATCTACACACAGCAACTAGGATTA	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST3GAL4_chr11_126350686_126419638	126416130	T T	TTGGGGGG others(20): Show TTGGGGGGGGTGGGGGTGGCTGTTCGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	322	0.0031	27	c.20 others(38): Show c.2083_*2084insTGGGGGGGGTGGGGGTGGCTGTTCGGG	ST3GAL4	ENSG00000110080.20	transcript	ENST00000444328.7	protein_coding		1493		chr11	TogoVar
ST7L_chr1_112518514_112624141	112599073	A A	AAATATAT others(20): Show AAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0321 a0001c0001t0002g0321	1	242	0.0041	27	c.507 others(42): Show c.507-988_507-987insATATATATATATATATATATATATATT	ST7L	ENSG00000007341.19	transcript	ENST00000358039.9	protein_coding	4/14			chr1	TogoVar
ST7_chr7_116948501_117235176	117097908	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	96	0.0104	27	c.152 others(44): Show c.152-1853_152-1852insATATATATATATATATATATATATTTT	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
ST8SIA5_chr18_46662821_46762053	46688192	T T	TTCTTTTA others(20): Show TTCTTTTATGTGAAAGGAAAAAAATAAA	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	360	0.0028	27	c.456 others(42): Show c.456+556_456+582dupTTTATTTTTTTCCTTTCACATAAAAGA	ST8SIA5	ENSG00000101638.14	transcript	ENST00000315087.12	protein_coding	4/6			chr18	TogoVar
ST8SIA5_chr18_46662821_46762053	46725982	T T	TATATATA others(20): Show TATATATATATATATATATATATCCTGG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0345 a0001c0001t0004g0345	1	331	0.0030	27	c.132 others(46): Show c.132-21319_132-21318insCCAGGATATATATATATATATATATA T	ST8SIA5	ENSG00000101638.14	transcript	ENST00000315087.12	protein_coding	1/6			chr18	TogoVar
ST8SIA5_chr18_46662821_46762053	46725984	T T	TATATATA others(20): Show TATATATATATATATATATATATCCTGG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02717.hp1 HG02886.hp1 others(2): Show HG02559.hp2 HG02717.hp1 HG02886.hp1 HG02895.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0027 a0001c0001t0107 others(2): Show a0001c0001t0007 a0001c0001t0027 a0001c0001t0107 a0001c0001t0108 a0001c0001t0111	a0001c0001t0007g0354 a0001c0001t0027g0048 a0001c0001t0107g0269 others(2): Show a0001c0001t0007g0354 a0001c0001t0027g0048 a0001c0001t0107g0269 a0001c0001t0108g0268 a0001c0001t0111g0270	5	348	0.0144	27	c.132 others(46): Show c.132-21321_132-21320insCCAGGATATATATATATATATATATA T	ST8SIA5	ENSG00000101638.14	transcript	ENST00000315087.12	protein_coding	1/6			chr18	TogoVar
ST8SIA6_chr10_17310421_17459595	17333718	T T	TAGATATA others(20): Show TAGATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0164 a0001c0001t0003g0164	1	287	0.0035	27	c.378 others(44): Show c.378-2167_378-2166insTATATATATATATATATATATATATCT	ST8SIA6	ENSG00000148488.17	transcript	ENST00000377602.5	protein_coding	4/7			chr10	TogoVar
ST8SIA6_chr10_17310421_17459595	17347953	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02027.hp1 NA18977.hp2 HG01891.hp2 HG02027.hp1 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0023 a0001c0001t0005g0034 a0001c0001t0005g0217 a0001c0001t0005g0023 a0001c0001t0005g0034 a0001c0001t0005g0217	3	110	0.0273	27	c.377 others(46): Show c.377+11560_377+11561insTTTTTTTTTTTTTTTTTTTTTTTTTT T	ST8SIA6	ENSG00000148488.17	transcript	ENST00000377602.5	protein_coding	4/7			chr10	TogoVar
STAC_chr3_36375504_36553007	36492031	A A	AAAAAAAA others(20): Show AAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01261.hp2 HG03041.hp1 others(1): Show HG00741.hp2 HG01261.hp2 HG03041.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0015 a0001c0002t0008 a0001c0001t0001 a0001c0001t0015 a0001c0002t0008	a0001c0001t0001g0115 a0001c0001t0001g0216 a0001c0001t0015g0146 others(1): Show a0001c0001t0001g0115 a0001c0001t0001g0216 a0001c0001t0015g0146 a0001c0002t0008g0007	4	87	0.0460	27	c.688 others(44): Show c.688-1119_688-1118insAAAAAAAAATATATATATATATATATA	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(20): Show AAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA19083.hp1 HG02027.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0005 a0001c0001t0001 a0001c0002t0005	a0001c0001t0001g0102 a0001c0002t0005g0008 a0001c0001t0001g0102 a0001c0002t0005g0008	2	85	0.0235	27	c.688 others(44): Show c.688-1119_688-1118insAAAAAAATATATATATATATATATATA	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(20): Show AAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0036 a0001c0002t0003g0036	1	84	0.0119	27	c.688 others(44): Show c.688-1119_688-1118insAAAAATATATATATATATATATATATA	STAC	ENSG00000144681.11	transcript	ENST00000273183.8	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
STAC_chr3_36375504_36553007	36492031	A A	AAAAATAT others(20): Show AAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0071 a0001c0007t0001g0071	1	84	0.0119	27	c.688 others(44): Show c.688-1119_688-1118insAAATATATATATATATATATATATATA	STAC	ENSG00000144681.11	transcript	ENST00000273183.8	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
STAG1_chr3_136331236_136757378	136396520	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA18963.hp2 HG02486.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0088 a0001c0001t0003g0218 a0001c0001t0002g0088 a0001c0001t0003g0218	2	26	0.0769	27	c.227 others(46): Show c.2277+2228_2277+2229insAAAAAAAAAAAAAAAAAAAAAAAAAA A	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	22/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136498210	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0212 a0001c0001t0003g0212	1	158	0.0063	27	c.902 others(44): Show c.902+2012_902+2013insTATATATATATATATATATATATATAT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	9/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136540822	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0129 a0001c0002t0002g0129	1	32	0.0313	27	c.471 others(44): Show c.471+1270_471+1296dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	6/33			chr3	TogoVar
STARD10_chr11_72749729_72799047	72781533	C C	CCGGGACC others(20): Show CCGGGACCCGAGGGGAGGGACGGTGCGG	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	374	0.0027	27	c.-11 others(44): Show c.-113-266_-113-240dupCCGCACCGTCCCTCCCCTCGGGTCCCG	STARD10	ENSG00000214530.10	transcript	ENST00000334805.11	protein_coding	1/6			chr11	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AAAAAAAT others(20): Show AAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01978.hp2 NA19077.hp2 HG01978.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0096 a0001c0001t0001g0085 a0001c0001t0001g0096	2	32	0.0625	27	c.210 others(44): Show c.2102+621_2102+622insATATATATATATATATATATATTTTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AAAAATAT others(20): Show AAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01975.hp1 NA18966.hp1 NA19010.hp1 others(1): Show HG01975.hp1 NA18966.hp1 NA19010.hp1 NA19081.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0003 a0001c0001t0001 a0003c0003t0003	a0001c0001t0001g0064 a0001c0001t0001g0136 a0003c0003t0003g0236 others(1): Show a0001c0001t0001g0064 a0001c0001t0001g0136 a0003c0003t0003g0236 a0003c0003t0003g0239	4	34	0.1176	27	c.210 others(44): Show c.2102+621_2102+622insATATATATATATATATATATATATTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AAATATAT others(20): Show AAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03831.hp1 NA18974.hp2 HG02559.hp1 HG03831.hp1 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0162 a0001c0001t0001g0219 a0001c0001t0002g0145 a0001c0001t0001g0162 a0001c0001t0001g0219 a0001c0001t0002g0145	3	33	0.0909	27	c.210 others(44): Show c.2102+621_2102+622insATATATATATATATATATATATATATT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA20805.hp1 NA19010.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0098 a0001c0001t0004g0221 a0001c0001t0001g0098 a0001c0001t0004g0221	2	32	0.0625	27	c.210 others(44): Show c.2102+621_2102+622insATATATATATATATATATATATATATA	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56354014	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18952.hp2 NA20805.hp1 HG02056.hp1 NA18952.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0098 a0001c0001t0001g0158 a0001c0001t0010g0186 a0001c0001t0001g0098 a0001c0001t0001g0158 a0001c0001t0010g0186	3	187	0.0160	27	c.782 others(42): Show c.782+451_782+452insATATATATATATATATATATATATATA	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	8/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56354016	A A	AAAAAAAA others(20): Show AAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03492.hp1 NA18946.hp1 NA19065.hp1 HG03492.hp1 NA18946.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0127 a0001c0001t0001g0216 a0001c0001t0001g0217	3	64	0.0469	27	c.782 others(42): Show c.782+449_782+450insATATATATATATATATATATTTTTTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	8/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56354016	A A	AAAAAAAT others(20): Show AAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02523.hp1 NA18747.hp2 others(1): Show HG01255.hp2 HG02523.hp1 NA18747.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0061 a0001c0001t0001g0079 others(1): Show a0001c0001t0001g0018 a0001c0001t0001g0061 a0001c0001t0001g0079 a0001c0001t0001g0113	4	65	0.0615	27	c.782 others(42): Show c.782+449_782+450insATATATATATATATATATATATTTTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	8/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56354016	A A	AAAAATAT others(20): Show AAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA18962.hp2 HG01496.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0192 a0001c0001t0001g0013 a0001c0001t0001g0192	2	63	0.0317	27	c.782 others(42): Show c.782+449_782+450insATATATATATATATATATATATATTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	8/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56354016	A A	AAATATAT others(20): Show AAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02273.hp2 HG02818.hp1 others(2): Show HG01255.hp1 HG02273.hp2 HG02818.hp1 NA18968.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0140 a0001c0001t0001g0178 others(2): Show a0001c0001t0001g0126 a0001c0001t0001g0140 a0001c0001t0001g0178 a0001c0001t0001g0209 a0001c0001t0001g0214	5	66	0.0758	27	c.782 others(42): Show c.782+449_782+450insATATATATATATATATATATATATATT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	8/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56354016	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02080.hp2 HG02698.hp1 others(3): Show HG01169.hp1 HG02080.hp2 HG02698.hp1 HG02698.hp2 HG02976.hp2 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0068 a0001c0001t0001g0071 others(3): Show a0001c0001t0001g0009 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0091 a0001c0001t0001g0142 a0001c0001t0001g0184	6	67	0.0896	27	c.782 others(42): Show c.782+449_782+450insATATATATATATATATATATATATATA	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	8/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56363211	A A	AAAAATAT others(20): Show AAAAATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02615.hp1 HG03453.hp1 HG02055.hp1 HG02615.hp1 HG03453.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0049 a0002c0002t0001g0054 a0002c0002t0001g0008 a0002c0002t0001g0049 a0002c0002t0001g0054	3	54	0.0556	27	c.-31 others(38): Show c.-3162_-3161insATATATATATATATATATATATATTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding		3105		chr12	TogoVar
STAT4_chr2_191024576_191155994	191125476	T T	TTTATTAT others(20): Show TTTATTATTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01257.hp1 HG01257.hp2 others(1): Show HG00733.hp2 HG01257.hp1 HG01257.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0077 a0001c0001t0001g0078 others(1): Show a0001c0001t0001g0013 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0138	4	85	0.0471	27	c.273 others(46): Show c.273+21110_273+21136dupTAATAATAATAATAATAATAATAATA A	STAT4	ENSG00000138378.19	transcript	ENST00000392320.7	protein_coding	3/23			chr2	TogoVar
STAT5B_chr17_42194177_42281391	42265377	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02004.hp1 HG02040.hp2 others(9): Show HG00558.hp1 HG02004.hp1 HG02040.hp2 HG02723.hp1 HG02735.hp1 HG02896.hp2 HG03098.hp1 HG04184.hp1 HG04204.hp2 NA18970.hp2 NA19056.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0001t0001 a0001c0001t0002 a0001c0001t0014	a0001c0001t0001g0146 a0001c0001t0001g0159 a0001c0001t0001g0161 others(9): Show a0001c0001t0001g0146 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0201 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0002g0185 a0001c0001t0014g0184	12	152	0.0789	27	c.-11 others(46): Show c.-11+10870_-11+10871insAAAAAAAAAAAAAAAAAAAAAAAAAA A	STAT5B	ENSG00000173757.11	transcript	ENST00000293328.8	protein_coding	1/18			chr17	TogoVar
STAU1_chr20_49108339_49193334	49126588	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAACAAAAAAAAAACAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0328 a0001c0001t0008g0328	1	210	0.0048	27	c.610 others(44): Show c.610-2002_610-2001insTTGTTTTTTTTTTGTTTTTTTTTTTTT	STAU1	ENSG00000124214.21	transcript	ENST00000371856.7	protein_coding	6/13			chr20	TogoVar
STAU1_chr20_49108339_49193334	49126588	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAACAAAAAAAAAAACAA	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0314 a0001c0001t0002g0314	1	210	0.0048	27	c.610 others(44): Show c.610-2002_610-2001insTTGTTTTTTTTTTTGTTTTTTTTTTTT	STAU1	ENSG00000124214.21	transcript	ENST00000371856.7	protein_coding	6/13			chr20	TogoVar
STAU1_chr20_49108339_49193334	49126588	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAACAAAAAAAAAACAAA	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA20805.hp1 HG04184.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0215 a0001c0001t0002g0290 a0001c0001t0002g0215 a0001c0001t0002g0290	2	211	0.0095	27	c.610 others(44): Show c.610-2002_610-2001insTTTGTTTTTTTTTTGTTTTTTTTTTTT	STAU1	ENSG00000124214.21	transcript	ENST00000371856.7	protein_coding	6/13			chr20	TogoVar
STAU1_chr20_49108339_49193334	49126588	C C	CAAAAAAA others(20): Show CAAAAAAAAAAACAAAAAAAAAAAACAA	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0313 a0001c0001t0002g0313	1	210	0.0048	27	c.610 others(44): Show c.610-2002_610-2001insTTGTTTTTTTTTTTTGTTTTTTTTTTT	STAU1	ENSG00000124214.21	transcript	ENST00000371856.7	protein_coding	6/13			chr20	TogoVar

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