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
ST3GAL2_chr16_70370977_70444100	70425891	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0197 a0001c0001t0028g0197	1	310	0.0032	32	c.-10 others(55): Show c.-1004+13057_-1004+13058insTATAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	ST3GAL2	ENSG00000157350.13	transcript	ENST00000342907.3	protein_coding	1/6			chr16	TogoVar
ST3GAL3_chr1_43702536_43936159	43857582	C C	CCCTTCCT others(25): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	66	0.0152	32	c.302 others(51): Show c.302+19274_302+19275insTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCT	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST3GAL3_chr1_43702536_43936159	43917443	A A	AATATATA others(25): Show AATATATAATATATAATATATATAATATATAAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	172	0.0058	32	c.745 others(49): Show c.745-2931_745-2900dupAATATATATAATATATAATATATATAAT ATAT	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST3GAL4_chr11_126350686_126419638	126359729	C C	CTCCCTCC others(25): Show CTCCCTCCTTCCCTCCTTCCCTCCTTCCCTCCT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	191	0.0052	32	c.-61 others(49): Show c.-61+3892_-61+3923dupTCCTTCCCTCCTTCCCTCCTTCCCTCCT TCCC	ST3GAL4	ENSG00000110080.20	transcript	ENST00000444328.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
ST6GAL1_chr3_186925526_187083553	186984740	T T	TTCCTTCC others(25): Show TTCCTTCCTCCCTTCCTTCCTTCCTTCCCTCCC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0024 a0001c0001t0032g0024	1	350	0.0029	32	c.-18 others(53): Show c.-183+20817_-183+20818insTTCCTCCCTTCCTTCCTTCCTTCC CTCCCTCC	ST6GAL1	ENSG00000073849.16	transcript	ENST00000169298.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
ST6GALNAC1_chr17_76619763_76648757	76648235	C C	CCTATATA others(25): Show CCTATATAAATCGAAGGATACCTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0129 a0004c0004t0001g0129	1	410	0.0024	32	c.-45 others(43): Show c.-4598_-4597insAAAAAAAAAAAGGTATCCTTCGATTTATATAG	ST6GALNAC1	ENSG00000070526.15	transcript	ENST00000156626.12	protein_coding		4479		chr17	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77070774	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0014 a0002c0003t0014	a0002c0003t0014g0173 a0002c0003t0014g0173	1	88	0.0114	32	c.75 others(43): Show c.7568_*7569insTATATATATATATATATATATATATATTTTTT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding		3229		chr1	TogoVar
ST7_chr7_116948501_117235176	117027463	A A	AAAAGTAA others(25): Show AAAAGTAAAAGTAAAAGTAAAGTAAAGTAAAGT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	14	0.0714	32	c.152 others(51): Show c.152-72291_152-72290insAGTAAAAGTAAAGTAAAGTAAAGTAA AGTAAA	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
ST8SIA1_chr12_22188391_22339707	22218612	A A	AAAATAAA others(25): Show AAAATAAATAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG06807.hp2 HG02896.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0110 a0001c0001t0017 a0001c0001t0110	a0001c0001t0017g0043 a0001c0001t0110g0061 a0001c0001t0017g0043 a0001c0001t0110g0061	2	69	0.0290	32	c.585 others(51): Show c.585-16575_585-16574insATTTATTTATTTATTTATTTATTTAT TTATTT	ST8SIA1	ENSG00000111728.11	transcript	ENST00000396037.9	protein_coding	4/4			chr12	TogoVar
ST8SIA5_chr18_46662821_46762053	46719682	T T	TTTTCTTT others(25): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG00639.hp1 others(66): Show HG00597.hp1 HG00597.hp2 HG00639.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp2 HG01123.hp2 HG01167.hp1 HG01255.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01978.hp2 HG02132.hp2 HG02145.hp2 HG02165.hp2 HG02258.hp2 HG02293.hp1 HG02300.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp2 HG02683.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02976.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03579.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 NA18939.hp1 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18960.hp2 NA18977.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA19004.hp1 NA19009.hp2 NA19012.hp1 NA19056.hp2 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(38): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0022 a0001c0001t0026 a0001c0001t0031 a0001c0001t0033 a0001c0001t0034 a0001c0001t0038 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0057 a0001c0001t0060 a0001c0001t0063 a0001c0001t0064 a0001c0001t0085 a0001c0001t0089 a0001c0001t0100 a0001c0001t0101 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0110 a0001c0001t0111 a0001c0001t0115 a0001c0001t0124 a0001c0002t0005 a0002c0004t0040	a0001c0001t0001g0070 a0001c0001t0001g0077 a0001c0001t0001g0136 others(66): Show a0001c0001t0001g0070 a0001c0001t0001g0077 a0001c0001t0001g0136 a0001c0001t0001g0179 a0001c0001t0001g0230 a0001c0001t0001g0242 a0001c0001t0002g0069 a0001c0001t0002g0072 a0001c0001t0002g0084 a0001c0001t0002g0140 a0001c0001t0002g0161 a0001c0001t0002g0198 a0001c0001t0003g0130 a0001c0001t0003g0172 a0001c0001t0003g0214 a0001c0001t0003g0234 a0001c0001t0004g0295 a0001c0001t0004g0319 a0001c0001t0004g0322 a0001c0001t0004g0332 a0001c0001t0004g0347 a0001c0001t0005g0047 a0001c0001t0005g0111 a0001c0001t0005g0129 a0001c0001t0005g0159 a0001c0001t0006g0042 a0001c0001t0006g0058 a0001c0001t0006g0081 a0001c0001t0007g0299 a0001c0001t0007g0300 a0001c0001t0007g0301 a0001c0001t0008g0298 a0001c0001t0009g0308 a0001c0001t0009g0314 a0001c0001t0012g0120 a0001c0001t0013g0278 a0001c0001t0014g0021 a0001c0001t0014g0029 a0001c0001t0015g0202 a0001c0001t0016g0035 a0001c0001t0020g0183 a0001c0001t0022g0338 a0001c0001t0022g0339 a0001c0001t0026g0162 a0001c0001t0031g0155 a0001c0001t0033g0105 a0001c0001t0033g0106 a0001c0001t0034g0176 a0001c0001t0038g0264 a0001c0001t0042g0343 a0001c0001t0043g0297 a0001c0001t0044g0275 a0001c0001t0057g0092 a0001c0001t0060g0249 a0001c0001t0063g0215 a0001c0001t0064g0071 a0001c0001t0085g0090 a0001c0001t0089g0110 a0001c0001t0100g0256 a0001c0001t0101g0261 a0001c0001t0103g0259 a0001c0001t0104g0260 a0001c0001t0105g0258 a0001c0001t0110g0271 a0001c0001t0111g0270 a0001c0001t0115g0329 a0001c0001t0124g0359 a0001c0002t0005g0186 a0002c0004t0040g0274	69	115	0.6000	32	c.132 others(51): Show c.132-15019_132-15018insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAA	ST8SIA5	ENSG00000101638.14	transcript	ENST00000315087.12	protein_coding	1/6			chr18	TogoVar
ST8SIA5_chr18_46662821_46762053	46719704	T T	TTCTTTCT others(25): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02647.hp1 HG02895.hp2 others(10): Show HG00735.hp1 HG02647.hp1 HG02895.hp2 HG02897.hp2 HG04115.hp2 HG04204.hp2 NA18939.hp2 NA18945.hp1 NA18953.hp1 NA18964.hp2 NA18975.hp1 NA18993.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0017 a0001c0001t0067 a0001c0001t0068	a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0063 others(9): Show a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0063 a0001c0001t0001g0123 a0001c0001t0001g0145 a0001c0001t0001g0226 a0001c0001t0002g0022 a0001c0001t0004g0334 a0001c0001t0017g0001 a0001c0001t0017g0057 a0001c0001t0067g0015 a0001c0001t0068g0014	13	342	0.0380	32	c.132 others(51): Show c.132-15041_132-15040insGAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGA	ST8SIA5	ENSG00000101638.14	transcript	ENST00000315087.12	protein_coding	1/6			chr18	TogoVar
ST8SIA6_chr10_17310421_17459595	17333715	A A	AGATATAT others(25): Show AGATATATATATATAGATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA19043.hp1 HG02451.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0255 a0001c0001t0003g0264 a0001c0001t0003g0255 a0001c0001t0003g0264	2	168	0.0119	32	c.378 others(49): Show c.378-2164_378-2163insAAAATATATATATATATCTATATATATA TATC	ST8SIA6	ENSG00000148488.17	transcript	ENST00000377602.5	protein_coding	4/7			chr10	TogoVar
ST8SIA6_chr10_17310421_17459595	17347953	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0037 a0001c0001t0005g0037	1	108	0.0093	32	c.377 others(51): Show c.377+11560_377+11561insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	ST8SIA6	ENSG00000148488.17	transcript	ENST00000377602.5	protein_coding	4/7			chr10	TogoVar
ST8SIA6_chr10_17310421_17459595	17374764	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01069.hp2 HG01071.hp1 others(10): Show HG00621.hp1 HG01069.hp2 HG01071.hp1 HG01978.hp1 HG02602.hp1 HG02965.hp2 HG03471.hp2 HG04228.hp1 NA18942.hp1 NA18942.hp2 NA18953.hp1 NA18984.hp1 NA19000.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0036 a0003c0004t0004	a0001c0001t0001g0061 a0001c0001t0001g0118 a0001c0001t0001g0171 others(10): Show a0001c0001t0001g0061 a0001c0001t0001g0118 a0001c0001t0001g0171 a0001c0001t0001g0193 a0001c0001t0001g0231 a0001c0001t0002g0154 a0001c0001t0002g0237 a0001c0001t0004g0125 a0001c0001t0007g0032 a0001c0001t0007g0046 a0001c0001t0036g0189 a0003c0004t0004g0120 a0003c0004t0004g0122	13	206	0.0631	32	c.291 others(51): Show c.291-15165_291-15164insGTGTATATATATATATATATATATAT ATATAT	ST8SIA6	ENSG00000148488.17	transcript	ENST00000377602.5	protein_coding	3/7			chr10	TogoVar
STAC_chr3_36375504_36553007	36492031	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	84	0.0119	32	c.688 others(49): Show c.688-1119_688-1118insAAAAAAAAAAAATATATATATATATATA TATA	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(25): Show AAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	84	0.0119	32	c.688 others(49): Show c.688-1119_688-1118insAAAAAAAAAATATATATATATATATATA TATA	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(25): Show AAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 NA18979.hp2 HG01168.hp2 HG01169.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0002t0003g0012 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0002t0003g0012	3	86	0.0349	32	c.688 others(49): Show c.688-1119_688-1118insAAAAAAAATATATATATATATATATATA TATA	STAC	ENSG00000144681.11	transcript	ENST00000273183.8	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
STAG1_chr3_136331236_136757378	136498233	T T	TATATATA others(25): Show TATATATATATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02258.hp2 HG02572.hp1 others(1): Show HG01243.hp1 HG02258.hp2 HG02572.hp1 HG03471.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0008 a0002c0003t0011 a0002c0003t0002 a0002c0003t0008 a0002c0003t0011	a0002c0003t0002g0171 a0002c0003t0002g0172 a0002c0003t0008g0182 others(1): Show a0002c0003t0002g0171 a0002c0003t0002g0172 a0002c0003t0008g0182 a0002c0003t0011g0185	4	118	0.0339	32	c.902 others(49): Show c.902+1989_902+1990insGTGTGTGTGTATATATATATATATATAT ATAT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	9/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136498233	T T	TATATATA others(25): Show TATATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	115	0.0087	32	c.902 others(49): Show c.902+1989_902+1990insGTGTGTGTATATATATATATATATATAT ATAT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	9/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136498233	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0028 a0001c0001t0001g0029	2	116	0.0172	32	c.902 others(49): Show c.902+1989_902+1990insGTGTATATATATATATATATATATATAT ATAT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	9/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136498233	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	115	0.0087	32	c.902 others(49): Show c.902+1989_902+1990insGTATATATATATATATATATATATATAT ATAT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	9/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136541538	T T	TCACACAC others(25): Show TCACACACACACACACACTCACACACACACACA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG04115.hp1 HG03834.hp1 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0139 a0001c0002t0002g0141 a0001c0002t0002g0139 a0001c0002t0002g0141	2	91	0.0220	32	c.471 others(47): Show c.471+580_471+581insTGTGTGTGTGTGTGAGTGTGTGTGTGTGTG TG	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	6/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136565011	A A	AAGGAAGG others(25): Show AAGGAAGGAAGGAAGGCAGGCAGGCAGGCAGGC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02280.hp2 HG03195.hp1 HG01884.hp2 HG02280.hp2 HG03195.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0002 a0002c0003t0002 a0001c0002t0002 a0002c0003t0002	a0001c0002t0002g0164 a0002c0003t0002g0178 a0002c0003t0002g0179 a0001c0002t0002g0164 a0002c0003t0002g0178 a0002c0003t0002g0179	3	145	0.0207	32	c.394 others(49): Show c.394+3753_394+3754insGCCTGCCTGCCTGCCTGCCTTCCTTCCT TCCT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	5/33			chr3	TogoVar
STAM2_chr2_152111801_152180763	152159094	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00609.hp1 HG01517.hp1 others(6): Show HG00408.hp2 HG00609.hp1 HG01517.hp1 HG01928.hp1 HG02148.hp2 HG02738.hp2 HG03239.hp1 HG04199.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0017 others(3): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0017 a0001c0001t0022 a0001c0001t0023 a0001c0001t0045	a0001c0001t0003g0182 a0001c0001t0003g0231 a0001c0001t0003g0247 others(6): Show a0001c0001t0003g0182 a0001c0001t0003g0231 a0001c0001t0003g0247 a0001c0001t0004g0206 a0001c0001t0017g0219 a0001c0001t0022g0232 a0001c0001t0022g0243 a0001c0001t0023g0205 a0001c0001t0045g0244	9	203	0.0443	32	c.41- others(47): Show c.41-8866_41-8865insATATATATATATATATATATATATATATAT AT	STAM2	ENSG00000115145.10	transcript	ENST00000263904.5	protein_coding	1/13			chr2	TogoVar
STAM2_chr2_152111801_152180763	152159110	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0043 a0001c0001t0009g0043	1	243	0.0041	32	c.41- others(47): Show c.41-8882_41-8881insGTATATATATATATATATATATATATATAT AT	STAM2	ENSG00000115145.10	transcript	ENST00000263904.5	protein_coding	1/13			chr2	TogoVar
STAMBP_chr2_73823961_73872168	73832108	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02273.hp2 NA19001.hp1 HG02273.hp2 NA19001.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0024 a0001c0002t0003 a0001c0002t0024	a0001c0002t0003g0064 a0001c0002t0024g0063 a0001c0002t0003g0064 a0001c0002t0024g0063	2	171	0.0117	32	c.203 others(49): Show c.203+1050_203+1051insTATATATATATATATATATATATATATA TACA	STAMBP	ENSG00000124356.17	transcript	ENST00000394070.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
STARD3NL_chr7_38173245_38235669	38197136	T T	TTTTCTTT others(25): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA18983.hp1 NA19078.hp2 HG02965.hp2 NA18983.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0013 a0001c0001t0004g0003 a0001c0001t0004g0018 a0001c0001t0002g0013 a0001c0001t0004g0003 a0001c0001t0004g0018	3	58	0.0517	32	c.-58 others(51): Show c.-58-10283_-58-10252dupCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTT	STARD3NL	ENSG00000010270.14	transcript	ENST00000009041.12	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
STAT2_chr12_56336597_56365107	56345522	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA18968.hp1 HG02723.hp1 NA18968.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0013 a0002c0002t0001 a0001c0001t0013 a0002c0002t0001	a0001c0001t0013g0150 a0002c0002t0001g0044 a0001c0001t0013g0150 a0002c0002t0001g0044	2	249	0.0080	32	c.210 others(49): Show c.2102+623_2102+624insATATATATATATATATATATATATATAT ATAT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AAAAAAAA others(25): Show AAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	31	0.0323	32	c.210 others(49): Show c.2102+621_2102+622insATATATATATATATATATATATATTTTT TTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AAAAAAAA others(25): Show AAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	31	0.0323	32	c.210 others(49): Show c.2102+621_2102+622insATATATATATATATATATATATATATTT TTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AAAAAATA others(25): Show AAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	31	0.0323	32	c.210 others(49): Show c.2102+621_2102+622insATATATATATATATATATATATATATAT TTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AAAATATA others(25): Show AAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG03492.hp1 HG03831.hp2 others(1): Show HG01517.hp2 HG03492.hp1 HG03831.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0108 a0001c0001t0001g0127 others(1): Show a0001c0001t0001g0101 a0001c0001t0001g0108 a0001c0001t0001g0127 a0001c0001t0001g0213	4	34	0.1176	32	c.210 others(49): Show c.2102+621_2102+622insATATATATATATATATATATATATATAT ATTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA18945.hp1 NA18971.hp1 others(1): Show HG03041.hp2 NA18945.hp1 NA18971.hp1 NA18975.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0084 a0001c0001t0001g0169 a0001c0001t0001g0205 others(1): Show a0001c0001t0001g0084 a0001c0001t0001g0169 a0001c0001t0001g0205 a0002c0002t0001g0045	4	34	0.1176	32	c.210 others(49): Show c.2102+621_2102+622insATATATATATATATATATATATATATAT ATAT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56345536	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATGC	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	266	0.0038	32	c.210 others(49): Show c.2102+609_2102+610insGCATATATATATATATATATATATATAT ATAT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56354012	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	207	0.0048	32	c.782 others(47): Show c.782+453_782+454insATATATATATATATATATATATATATATAT AT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	8/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56354016	A A	AAAAAAAA others(25): Show AAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	62	0.0161	32	c.782 others(47): Show c.782+449_782+450insATATATATATATATATATATATATATTTTT TT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	8/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56354016	A A	AAAAAATA others(25): Show AAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG06807.hp2 HG02132.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0187 a0001c0001t0001g0009 a0001c0001t0001g0187	2	63	0.0317	32	c.782 others(47): Show c.782+449_782+450insATATATATATATATATATATATATATATTT TT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	8/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56354016	A A	AAAATATA others(25): Show AAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	62	0.0161	32	c.782 others(47): Show c.782+449_782+450insATATATATATATATATATATATATATATAT TT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	8/23			chr12	TogoVar
STAT4_chr2_191024576_191155994	191079235	T T	TCACACAC others(25): Show TCACACACACACACACACACACGCACACACACA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01496.hp1 HG01516.hp1 others(23): Show HG00639.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp2 HG02004.hp2 HG02074.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp2 HG02717.hp2 HG02809.hp1 HG02922.hp2 HG03490.hp1 HG03492.hp2 HG03540.hp1 HG03710.hp1 NA18940.hp2 NA18979.hp2 NA18987.hp2 NA18994.hp2 NA18999.hp2 NA19009.hp2 NA19056.hp1 NA19060.hp1 NA19066.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0042 a0001c0001t0001g0044 others(22): Show a0001c0001t0001g0002 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0051 a0001c0001t0001g0063 a0001c0001t0001g0071 a0001c0001t0001g0080 a0001c0001t0001g0089 a0001c0001t0001g0101 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0169 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0223 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0268 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0282 a0001c0006t0001g0065	26	99	0.2626	32	c.274 others(49): Show c.274-2911_274-2910insTGTGTGTGTGCGTGTGTGTGTGTGTGTG TGTG	STAT4	ENSG00000138378.19	transcript	ENST00000392320.7	protein_coding	3/23			chr2	TogoVar
STAT5B_chr17_42194177_42281391	42265377	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	141	0.0071	32	c.-11 others(51): Show c.-11+10870_-11+10871insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	STAT5B	ENSG00000173757.11	transcript	ENST00000293328.8	protein_coding	1/18			chr17	TogoVar
STAU1_chr20_49108339_49193334	49108483	T T	TACACACA others(25): Show TACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0057 a0001c0001t0003g0057	1	333	0.0030	32	c.63 others(43): Show c.6394_*6395insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	STAU1	ENSG00000124214.21	transcript	ENST00000371856.7	protein_coding		4855		chr20	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(25): Show ATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA18612.hp1 HG04184.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0063 a0001c0001t0002g0044 a0001c0001t0002g0063	2	193	0.0104	32	c.762 others(51): Show c.762+35592_762+35593insAAAAAAAAAAAATATATATATATATA TATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(25): Show ATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18963.hp2 NA18969.hp2 others(3): Show NA18950.hp2 NA18963.hp2 NA18969.hp2 NA18983.hp2 NA19056.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0023 others(3): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0023 a0001c0001t0002g0026 a0001c0001t0002g0048 a0001c0001t0002g0070	6	197	0.0305	32	c.762 others(51): Show c.762+35592_762+35593insAAAAAAAAAAAAAATATATATATATA TATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(25): Show ATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0243 a0002c0002t0002g0243	1	192	0.0052	32	c.762 others(51): Show c.762+35592_762+35593insAAAAAAAAAAAAAAAATATATATATA TATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(25): Show ATATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0267 a0002c0002t0002g0267	1	192	0.0052	32	c.762 others(51): Show c.762+35592_762+35593insAAAAAAAAAAAAAAAAAATATATATA TATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(25): Show ATATATATATATATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0232 a0002c0002t0002g0232	1	192	0.0052	32	c.762 others(51): Show c.762+35592_762+35593insAAAAAAAAAAAAAAAAAAAATATATA TATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22464948	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02602.hp1 HG03669.hp1 others(3): Show HG01981.hp1 HG02602.hp1 HG03669.hp1 NA18940.hp1 NA18982.hp2 NA19088.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0011 a0001c0001 a0002c0002 a0003c0011	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0003c0011t0001	a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0101 others(3): Show a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0101 a0001c0001t0002g0089 a0002c0002t0001g0327 a0003c0011t0001g0215	6	79	0.0759	32	c.762 others(51): Show c.762+27616_762+27617insATATATATATATATATATATATATAT ATATAT	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STIM2_chr4_26855841_27030381	26885833	A A	ATATACAT others(25): Show ATATACATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18989.hp1 NA18999.hp1 others(4): Show NA18973.hp2 NA18989.hp1 NA18999.hp1 NA19054.hp2 NA19062.hp1 NA19065.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0001 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 others(4): Show a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0140 a0001c0001t0005g0141 a0001c0001t0006g0063	7	332	0.0211	32	c.151 others(51): Show c.151+24468_151+24469insCATATATATATATATATATATATATA TGTATA	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(25): Show ATATATATATATGTATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02273.hp1 HG03239.hp2 HG01192.hp1 HG02273.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0009g0127 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0009g0127	3	248	0.0121	32	c.151 others(51): Show c.151+24501_151+24502insGTATATATATATATATATATGTATAT ATATAT	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(25): Show ATATATATATGTATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0097 a0001c0001t0005g0097	1	246	0.0041	32	c.151 others(51): Show c.151+24499_151+24500insGTATATATATATATATATATATGTAT ATATAT	STIM2	ENSG00000109689.20	transcript	ENST00000467087.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar

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