Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
SRC_chr20_37341140_37411050	37409426	GGCTCAGC others(18): Show GGCTCAGCCTTCTCTCACTTAACGCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0069 a0001c0001t0046g0069	1	280	0.0036	-25	c.60 others(36): Show c.6048_*6072delGCTCAGCCTTCTCTCACTTAACGCT	SRC	ENSG00000197122.13	transcript	ENST00000373578.7	protein_coding		3377		chr20	TogoVar
SRD5A2_chr2_31517480_31585938	31583626	AAACAAAA others(18): Show AAACAAAAAAAAAGCAAAAAAAAAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0163 a0001c0001t0010g0163	1	369	0.0027	-25	c.-27 others(36): Show c.-2751_-2727delGTTTTTTTTTTGCTTTTTTTTTGTT	SRD5A2	ENSG00000277893.2	transcript	ENST00000622030.2	protein_coding		2689		chr2	TogoVar
SRD5A2_chr2_31517480_31585938	31583627	AACAAAAA others(18): Show AACAAAAAAAAAGCAAAAAAAAAACC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01070.hp1 HG01070.hp2 others(28): Show HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp2 HG01261.hp2 HG01346.hp1 HG01891.hp2 HG02109.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02886.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG03017.hp2 HG03139.hp2 HG03239.hp1 HG03654.hp2 HG03834.hp1 HG03834.hp2 HG04204.hp2 NA19240.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0023 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0002c0002t0001	a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0020 others(24): Show a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0174 a0001c0001t0001g0219 a0001c0001t0001g0240 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0283 a0001c0001t0002g0014 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0009g0154 a0001c0001t0023g0282 a0001c0001t0028g0158 a0001c0001t0029g0156 a0001c0001t0030g0157 a0001c0001t0031g0344 a0002c0002t0001g0024	31	381	0.0814	-25	c.-27 others(36): Show c.-2752_-2728delGGTTTTTTTTTTGCTTTTTTTTTGT	SRD5A2	ENSG00000277893.2	transcript	ENST00000622030.2	protein_coding		2690		chr2	TogoVar
SRGAP2_chr1_206198541_206469436	206336702	CAGCATCA others(18): Show CAGCATCAGCAAAATGCATAATAGAG	C C	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0021 a0001c0002t0002g0021	1	180	0.0056	-25	c.261 others(42): Show c.261-6142_261-6118delGCATCAGCAAAATGCATAATAGAGA	SRGAP2	ENSG00000266028.8	transcript	ENST00000573034.8	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2_chr1_206198541_206469436	206372947	CTTTCTTT others(18): Show CTTTCTTTCTTTTCTTTCCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA20300.hp1 HG02109.hp2 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0017 a0001c0003t0004 a0001c0003t0017	a0001c0003t0004g0118 a0001c0003t0017g0003 a0001c0003t0004g0118 a0001c0003t0017g0003	2	173	0.0116	-25	c.424 others(44): Show c.424-11066_424-11042delTTTCTTTCTTTTCTTTCCTTTCTTT	SRGAP2	ENSG00000266028.8	transcript	ENST00000573034.8	protein_coding	4/22			chr1	TogoVar
SRPK2_chr7_105111374_105393921	105164941	GTGCCTCT others(18): Show GTGCCTCTGAGTAAAGTGGTCCGATT	G G	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	280	0.0036	-25	c.514 others(42): Show c.514+2411_514+2435delAATCGGACCACTTTACTCAGAGGCA	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	6/15			chr7	TogoVar
SRRM3_chr7_76196896_76292287	76223820	GCCTTCCC others(18): Show GCCTTCCCTTCCCTTCCCTTCCCTTC	G G	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0001 a0007c0013t0001	a0007c0013t0001g0321 a0007c0013t0001g0321	1	69	0.0145	-25	c.-39 others(44): Show c.-39-11159_-39-11135delTCCCTTCCCTTCCCTTCCCTTCCCT	SRRM3	ENSG00000177679.16	transcript	ENST00000611745.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
SRRM3_chr7_76196896_76292287	76266168	TTATTTAT others(18): Show TTATTTATATATTTAATATATATAAA	T T	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03654.hp1 HG03453.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0247 a0001c0001t0003g0109 a0001c0001t0002g0247 a0001c0001t0003g0109	2	320	0.0063	-25	c.830 others(40): Show c.830+771_830+795delATAAATATTTATATATTTAATATAT	SRRM3	ENSG00000177679.16	transcript	ENST00000611745.2	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
SRRM4_chr12_118976541_119168051	119081885	CTAACAAG others(18): Show CTAACAAGAGCTGCCATTAACGGAGA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp1 HG00597.hp1 others(54): Show HG00280.hp2 HG00438.hp1 HG00597.hp1 HG00609.hp1 HG00673.hp1 HG00733.hp1 HG00735.hp2 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01358.hp2 HG01496.hp2 HG01884.hp2 HG01943.hp1 HG02083.hp2 HG02155.hp1 HG02257.hp2 HG02280.hp1 HG02486.hp2 HG02622.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02895.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03098.hp2 HG03139.hp1 HG03491.hp1 HG03492.hp2 HG03579.hp1 HG03688.hp1 HG04204.hp2 NA18612.hp2 NA18747.hp1 NA18944.hp2 NA18947.hp2 NA18954.hp2 NA18956.hp2 NA18960.hp2 NA18965.hp1 NA18971.hp1 NA18975.hp1 NA18978.hp1 NA18992.hp2 NA18995.hp1 NA19001.hp1 NA19011.hp2 NA19056.hp2 NA19064.hp1 NA19074.hp2 NA19086.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0006 a0008 a0009 a0010 a0011	a0001c0001 a0001c0011 a0002c0002 others(7): Show a0001c0001 a0001c0011 a0002c0002 a0003c0003 a0003c0022 a0006c0006 a0008c0020 a0009c0024 a0010c0021 a0011c0017	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(28): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 a0001c0001t0027 a0001c0001t0029 a0001c0001t0035 a0001c0001t0038 a0001c0001t0044 a0001c0001t0056 a0001c0001t0060 a0001c0001t0065 a0001c0011t0012 a0001c0011t0025 a0002c0002t0002 a0002c0002t0008 a0002c0002t0018 a0002c0002t0020 a0002c0002t0036 a0002c0002t0075 a0003c0003t0013 a0003c0003t0015 a0003c0003t0047 a0003c0022t0041 a0006c0006t0018 a0008c0020t0042 a0009c0024t0001 a0010c0021t0073 a0011c0017t0010	a0001c0001t0001g0094 a0001c0001t0001g0136 a0001c0001t0001g0180 others(54): Show a0001c0001t0001g0094 a0001c0001t0001g0136 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0214 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0228 a0001c0001t0001g0233 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0003g0224 a0001c0001t0003g0230 a0001c0001t0003g0235 a0001c0001t0003g0245 a0001c0001t0004g0132 a0001c0001t0005g0237 a0001c0001t0005g0243 a0001c0001t0005g0247 a0001c0001t0006g0213 a0001c0001t0006g0218 a0001c0001t0014g0182 a0001c0001t0014g0183 a0001c0001t0027g0005 a0001c0001t0029g0206 a0001c0001t0035g0003 a0001c0001t0038g0186 a0001c0001t0038g0187 a0001c0001t0044g0038 a0001c0001t0056g0297 a0001c0001t0060g0261 a0001c0001t0065g0220 a0001c0011t0012g0285 a0001c0011t0025g0006 a0002c0002t0002g0095 a0002c0002t0002g0189 a0002c0002t0002g0221 a0002c0002t0002g0225 a0002c0002t0002g0232 a0002c0002t0002g0242 a0002c0002t0008g0142 a0002c0002t0008g0226 a0002c0002t0008g0229 a0002c0002t0018g0234 a0002c0002t0020g0137 a0002c0002t0020g0227 a0002c0002t0036g0219 a0002c0002t0075g0231 a0003c0003t0013g0311 a0003c0003t0015g0135 a0003c0003t0047g0056 a0003c0022t0041g0063 a0006c0006t0018g0007 a0008c0020t0042g0004 a0009c0024t0001g0184 a0010c0021t0073g0283 a0011c0017t0010g0307	57	326	0.1748	-25	c.132 others(44): Show c.132-20349_132-20325delAACAAGAGCTGCCATTAACGGAGAT	SRRM4	ENSG00000139767.10	transcript	ENST00000267260.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRRT_chr7_100870103_100893664	100889736	GCCCCGCC others(18): Show GCCCCGCCCCTCCCCTCCCCTCCCCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01515.hp2 others(49): Show HG01168.hp2 HG01169.hp1 HG01515.hp2 HG01517.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02735.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03239.hp1 HG03453.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03831.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18955.hp1 NA18969.hp2 NA19043.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0003t0001 a0002c0006t0001	a0001c0001t0001g0023 a0001c0001t0001g0120 a0001c0001t0001g0121 others(29): Show a0001c0001t0001g0023 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0002g0046 a0001c0001t0004g0041 a0001c0002t0001g0007 a0001c0002t0001g0009 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0066 a0001c0002t0001g0087 a0001c0002t0001g0089 a0001c0002t0001g0174 a0001c0002t0001g0176 a0001c0003t0001g0023 a0001c0003t0001g0024 a0001c0003t0001g0028 a0001c0003t0001g0040 a0001c0003t0001g0100 a0001c0003t0001g0101 a0001c0003t0001g0102 a0001c0003t0001g0103 a0001c0003t0001g0104 a0001c0003t0001g0105 a0001c0003t0001g0106 a0001c0003t0001g0107 a0001c0003t0001g0122 a0001c0003t0001g0150 a0001c0003t0001g0151 a0001c0003t0001g0152 a0001c0003t0001g0158 a0002c0006t0001g0091	52	322	0.1615	-25	c.11 others(36): Show c.1188_*1212delCCCCGCCCCTCCCCTCCCCTCCCCT	SRRT	ENSG00000087087.20	transcript	ENST00000611405.5	protein_coding		1073		chr7	TogoVar
SRSF11_chr1_70216380_70258052	70248959	CACAGAGG others(18): Show CACAGAGGGCTGTGTAAGTAGAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19066.hp1 NA19003.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0157 a0001c0001t0001g0151 a0001c0001t0001g0157	2	335	0.0060	-25	c.102 others(42): Show c.1023-991_1023-967delCAGAGGGCTGTGTAAGTAGAAAAAA	SRSF11	ENSG00000116754.14	transcript	ENST00000370949.2	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
SS18L1_chr20_62138769_62187514	62150633	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0284 a0001c0004t0006g0284	1	8	0.1250	-25	c.69+ others(40): Show c.69+6757_69+6781delTTTTTTTTTTTTTTTTTTTTTTTTT	SS18L1	ENSG00000184402.15	transcript	ENST00000331758.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
SS18_chr18_26011253_26095613	26033632	TTCAAGCT others(18): Show TTCAAGCTTAAATAAATTATATCAGC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02055.hp2 HG02615.hp2 others(3): Show HG01081.hp1 HG02055.hp2 HG02615.hp2 HG02717.hp2 HG02896.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0087 a0001c0002t0006g0088 a0001c0002t0006g0089 others(3): Show a0001c0002t0006g0087 a0001c0002t0006g0088 a0001c0002t0006g0089 a0001c0002t0006g0090 a0001c0002t0006g0091 a0001c0002t0006g0112	6	316	0.0190	-25	c.109 others(44): Show c.1097-1125_1097-1101delGCTGATATAATTTATTTAAGCTTGA	SS18	ENSG00000141380.14	transcript	ENST00000415083.7	protein_coding	9/10			chr18	TogoVar
SSBP2_chr5_81407804_81756097	81686868	AAAAAGAA others(18): Show AAAAAGAAAAGAAAAGAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG03453.hp1 others(1): Show HG02895.hp2 HG02897.hp2 HG03453.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0026 a0001c0001t0014 a0001c0001t0026	a0001c0001t0014g0195 a0001c0001t0014g0196 a0001c0001t0014g0197 others(1): Show a0001c0001t0014g0195 a0001c0001t0014g0196 a0001c0001t0014g0197 a0001c0001t0026g0048	4	146	0.0274	-25	c.63- others(42): Show c.63-36554_63-36530delCTTTTCTTTTCTTTTCTTTTCTTTT	SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	1/16			chr5	TogoVar
SSBP3_chr1_54220432_54411394	54240098	GCGTGTGC others(18): Show GCGTGTGCGTGCGCGCGCGCGCGCAA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01257.hp1 others(4): Show HG01069.hp1 HG01071.hp2 HG01257.hp1 HG01258.hp2 HG01361.hp1 HG01516.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(2): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0015	a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0188 others(4): Show a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0188 a0001c0001t0004g0157 a0001c0001t0005g0150 a0001c0001t0007g0207 a0001c0001t0015g0014	7	273	0.0256	-25	c.856 others(40): Show c.856+782_856+806delTTGCGCGCGCGCGCGCACGCACACG	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	13/17			chr1	TogoVar
SSPN_chr12_26190573_26239777	26201021	ATATATAT others(18): Show ATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00642.hp1 NA18951.hp1 others(2): Show HG00621.hp1 HG00642.hp1 NA18951.hp1 NA18960.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0217 a0001c0001t0001g0012 a0001c0001t0001g0217	5	381	0.0131	-25	c.279 others(42): Show c.279+5084_279+5108delATATATATATATTATATATATATAT	SSPN	ENSG00000123096.12	transcript	ENST00000242729.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
SSTR2_chr17_73160010_73181633	73174024	GAGGCTGA others(18): Show GAGGCTGAGACAGGAGAATCGCTTGA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0089 a0001c0001t0089	a0001c0001t0089g0004 a0001c0001t0089g0004	1	452	0.0022	-25	c.35 others(36): Show c.3597_*3621delGGCTGAGACAGGAGAATCGCTTGAA	SSTR2	ENSG00000180616.9	transcript	ENST00000357585.4	protein_coding	2/2	3597	INFO_REALIGN_3_PRIME	chr17	TogoVar
ST14_chr11_130154782_130215362	130181117	TGTCCCTG others(18): Show TGTCCCTGCTGGGTGGGATGGCGGTG	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA19043.hp2 HG01109.hp1 NA19043.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0004 a0004c0008t0004	a0004c0008t0004g0237 a0004c0008t0004g0238 a0004c0008t0004g0237 a0004c0008t0004g0238	2	290	0.0069	-25	c.82- others(40): Show c.82-6976_82-6952delCGGTGGTCCCTGCTGGGTGGGATGG	ST14	ENSG00000149418.11	transcript	ENST00000278742.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr11	TogoVar
ST3GAL1_chr8_133449848_133576887	133576568	AAAAACAA others(18): Show AAAAACAAAAAACAAAAAAAAAAAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02559.hp2 HG02886.hp1 others(4): Show HG01891.hp1 HG02559.hp2 HG02886.hp1 HG03098.hp2 HG03486.hp2 NA19074.hp2 NA19240.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0002 a0001c0003 a0001c0004 others(2): Show a0001c0002 a0001c0003 a0001c0004 a0002c0005 a0005c0009	a0001c0002t0010 a0001c0002t0020 a0001c0002t0042 others(4): Show a0001c0002t0010 a0001c0002t0020 a0001c0002t0042 a0001c0003t0008 a0001c0004t0003 a0002c0005t0003 a0005c0009t0070	a0001c0002t0010g0294 a0001c0002t0020g0189 a0001c0002t0042g0004 others(4): Show a0001c0002t0010g0294 a0001c0002t0020g0189 a0001c0002t0042g0004 a0001c0003t0008g0291 a0001c0004t0003g0295 a0002c0005t0003g0063 a0005c0009t0070g0250	7	310	0.0226	-25	c.-54 others(36): Show c.-5482_-5458delGTTTTTTTTTTTTGTTTTTTGTTTT	ST3GAL1	ENSG00000008513.17	transcript	ENST00000522652.6	protein_coding		4682		chr8	TogoVar
ST6GALNAC2_chr17_76560377_76590860	76563753	CTTTATTT others(18): Show CTTTATTTTATTTTATTTTATTTTAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00408.hp2 others(172): Show HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00639.hp1 HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01993.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02132.hp2 HG02135.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02615.hp1 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03490.hp2 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18949.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp2 NA18956.hp2 NA18957.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18975.hp2 NA18977.hp1 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18993.hp2 NA18998.hp1 NA19000.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19012.hp2 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp2 NA19062.hp1 NA19062.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0016 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0028 a0001c0003t0004	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 others(126): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0074 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0140 a0001c0001t0002g0001 a0001c0001t0002g0018 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0161 a0001c0001t0002g0181 a0001c0001t0002g0188 a0001c0001t0002g0191 a0001c0001t0002g0225 a0001c0001t0002g0241 a0001c0001t0002g0243 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0261 a0001c0001t0002g0285 a0001c0001t0003g0003 a0001c0001t0003g0021 a0001c0001t0003g0047 a0001c0001t0003g0052 a0001c0001t0003g0164 a0001c0001t0003g0170 a0001c0001t0003g0173 a0001c0001t0003g0180 a0001c0001t0003g0185 a0001c0001t0003g0231 a0001c0001t0003g0240 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0001t0003g0272 a0001c0001t0003g0275 a0001c0001t0003g0276 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0003g0283 a0001c0001t0004g0005 a0001c0001t0004g0028 a0001c0001t0004g0034 a0001c0001t0004g0061 a0001c0001t0004g0086 a0001c0001t0004g0090 a0001c0001t0004g0106 a0001c0001t0005g0009 a0001c0001t0005g0022 a0001c0001t0005g0048 a0001c0001t0005g0193 a0001c0001t0005g0208 a0001c0001t0005g0212 a0001c0001t0005g0213 a0001c0001t0005g0216 a0001c0001t0005g0217 a0001c0001t0006g0020 a0001c0001t0006g0153 a0001c0001t0006g0154 a0001c0001t0006g0155 a0001c0001t0006g0156 a0001c0001t0006g0158 a0001c0001t0006g0215 a0001c0001t0006g0220 a0001c0001t0006g0222 a0001c0001t0006g0224 a0001c0001t0006g0226 a0001c0001t0006g0260 a0001c0001t0006g0263 a0001c0001t0006g0264 a0001c0001t0006g0265 a0001c0001t0006g0271 a0001c0001t0006g0284 a0001c0001t0007g0041 a0001c0001t0007g0281 a0001c0001t0008g0006 a0001c0001t0008g0040 a0001c0001t0008g0148 a0001c0001t0008g0214 a0001c0001t0008g0238 a0001c0001t0009g0251 a0001c0001t0010g0012 a0001c0001t0010g0032 a0001c0001t0010g0065 a0001c0001t0010g0067 a0001c0001t0010g0138 a0001c0001t0011g0024 a0001c0001t0011g0255 a0001c0001t0011g0256 a0001c0001t0014g0019 a0001c0001t0016g0068 a0001c0001t0016g0083 a0001c0001t0019g0097 a0001c0001t0021g0262 a0001c0001t0022g0157 a0001c0001t0028g0235 a0001c0003t0004g0122 a0001c0003t0004g0128	175	352	0.4972	-25	c.23 others(36): Show c.2326_*2350delATAAAATAAAATAAAATAAAATAAA	ST6GALNAC2	ENSG00000070731.11	transcript	ENST00000225276.10	protein_coding		1623		chr17	TogoVar
ST6GALNAC2_chr17_76560377_76590860	76590033	GTTTTTTT others(18): Show GTTTTTTTTTCTTTCTTACTGTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00735.hp1 HG00738.hp2 others(39): Show HG00140.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01074.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp2 HG01256.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG01928.hp1 HG02040.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02148.hp1 HG02165.hp2 HG02273.hp2 HG02293.hp2 HG02738.hp1 HG03490.hp1 HG03669.hp2 HG03927.hp1 HG04115.hp1 HG04204.hp1 NA18941.hp2 NA18950.hp1 NA18963.hp2 NA18964.hp1 NA18967.hp1 NA18975.hp2 NA18984.hp1 NA18998.hp2 NA19001.hp2 NA19002.hp2 NA19054.hp1 NA19064.hp1 NA19066.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0024	a0001c0001t0001g0054 a0001c0001t0001g0081 a0001c0001t0001g0108 others(30): Show a0001c0001t0001g0054 a0001c0001t0001g0081 a0001c0001t0001g0108 a0001c0001t0001g0125 a0001c0001t0002g0001 a0001c0001t0002g0016 a0001c0001t0002g0159 a0001c0001t0002g0161 a0001c0001t0002g0163 a0001c0001t0002g0171 a0001c0001t0002g0179 a0001c0001t0002g0181 a0001c0001t0002g0186 a0001c0001t0002g0188 a0001c0001t0002g0192 a0001c0001t0003g0042 a0001c0001t0003g0164 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0170 a0001c0001t0003g0173 a0001c0001t0003g0178 a0001c0001t0003g0180 a0001c0001t0003g0184 a0001c0001t0003g0252 a0001c0001t0004g0005 a0001c0001t0004g0010 a0001c0001t0004g0026 a0001c0001t0004g0059 a0001c0001t0004g0060 a0001c0001t0005g0182 a0001c0001t0007g0187 a0001c0001t0024g0183	42	106	0.3962	-25	c.-42 others(36): Show c.-4250_-4226delAAAAACAGTAAGAAAGAAAAAAAAA	ST6GALNAC2	ENSG00000070731.11	transcript	ENST00000225276.10	protein_coding		4174		chr17	TogoVar
ST8SIA1_chr12_22188391_22339707	22321003	GAAGAAAG others(18): Show GAAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0139 a0001c0002t0139	a0001c0002t0139g0074 a0001c0002t0139g0074	1	161	0.0062	-25	c.236 others(44): Show c.236+12969_236+12993delTTCTTTCTTTCTTTCTTTCTTTCTT	ST8SIA1	ENSG00000111728.11	transcript	ENST00000396037.9	protein_coding	1/4			chr12	TogoVar
ST8SIA6_chr10_17310421_17459595	17333690	TATATATA others(18): Show TATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0186 a0001c0001t0008g0186	1	212	0.0047	-25	c.378 others(42): Show c.378-2163_378-2139delTATATATATATATATATATATATAT	ST8SIA6	ENSG00000148488.17	transcript	ENST00000377602.5	protein_coding	4/7			chr10	TogoVar
STAC_chr3_36375504_36553007	36492028	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0304 a0001c0001t0002g0304	1	312	0.0032	-25	c.688 others(42): Show c.688-1121_688-1097delAAATATATATATATATATATATATA	STAC	ENSG00000144681.11	transcript	ENST00000273183.8	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
STAG1_chr3_136331236_136757378	136370048	TTACTATA others(18): Show TTACTATACTATACTATACTATACTA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0238 a0002c0004t0002g0238	1	9	0.1111	-25	c.237 others(42): Show c.2371-791_2371-767delTAGTATAGTATAGTATAGTATAGTA	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	23/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136714939	ATATATAT others(18): Show ATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00733.hp1 HG00741.hp2 others(27): Show HG00280.hp2 HG00733.hp1 HG00741.hp2 HG01069.hp2 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01167.hp1 HG01346.hp2 HG01433.hp1 HG01496.hp1 HG02055.hp1 HG02300.hp2 HG02683.hp1 HG02723.hp1 HG02809.hp1 HG03017.hp1 HG03139.hp1 HG03195.hp2 HG03239.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03834.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG06807.hp2 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0007 a0001c0002t0009 a0001c0002t0002 a0001c0002t0007 a0001c0002t0009	a0001c0002t0002g0129 a0001c0002t0002g0132 a0001c0002t0002g0133 others(27): Show a0001c0002t0002g0129 a0001c0002t0002g0132 a0001c0002t0002g0133 a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0002t0002g0138 a0001c0002t0002g0139 a0001c0002t0002g0140 a0001c0002t0002g0141 a0001c0002t0002g0142 a0001c0002t0002g0143 a0001c0002t0002g0144 a0001c0002t0002g0145 a0001c0002t0002g0146 a0001c0002t0002g0147 a0001c0002t0002g0148 a0001c0002t0002g0149 a0001c0002t0002g0150 a0001c0002t0002g0151 a0001c0002t0002g0191 a0001c0002t0002g0193 a0001c0002t0002g0194 a0001c0002t0002g0195 a0001c0002t0002g0196 a0001c0002t0007g0134 a0001c0002t0007g0135 a0001c0002t0007g0189 a0001c0002t0007g0190 a0001c0002t0009g0001 a0001c0002t0009g0002	30	238	0.1261	-25	c.-84 others(44): Show c.-84+37231_-84+37255delATATATATATATATATATATATATA	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	1/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136722693	CCCACGGT others(18): Show CCCACGGTCTCCCTCTCCCTCTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02965.hp1 HG02280.hp2 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0164 a0001c0002t0002g0165 a0001c0002t0002g0164 a0001c0002t0002g0165	2	238	0.0084	-25	c.-84 others(44): Show c.-84+29477_-84+29501delAAAGAGAGGGAGAGGGAGACCGTGG	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	1/33			chr3	TogoVar
STAMBP_chr2_73823961_73872168	73834225	AAAAAAAA others(18): Show AAAAAAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03225.hp2 HG02622.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0046 a0001c0001t0027 a0001c0001t0046	a0001c0001t0027g0028 a0001c0001t0046g0030 a0001c0001t0027g0028 a0001c0001t0046g0030	2	361	0.0055	-25	c.203 others(42): Show c.203+3168_203+3192delAAAAAAAAAAATATATATATATATA	STAMBP	ENSG00000124356.17	transcript	ENST00000394070.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
STAMBP_chr2_73823961_73872168	73834237	ATATATAT others(18): Show ATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0203 a0001c0001t0015g0203	1	258	0.0039	-25	c.203 others(42): Show c.203+3179_203+3203delTATATATATATATATATATATATAT	STAMBP	ENSG00000124356.17	transcript	ENST00000394070.7	protein_coding	2/9			chr2	TogoVar
STARD10_chr11_72749729_72799047	72777433	CTGGTTGA others(18): Show CTGGTTGAATGACTGACAGAAGCTCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02683.hp1 HG02738.hp1 others(1): Show HG00099.hp2 HG02683.hp1 HG02738.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0137 a0001c0001t0003g0184 a0001c0001t0003g0186 others(1): Show a0001c0001t0003g0137 a0001c0001t0003g0184 a0001c0001t0003g0186 a0001c0001t0003g0277	4	374	0.0107	-25	c.207 others(42): Show c.207+3517_207+3541delAGAGCTTCTGTCAGTCATTCAACCA	STARD10	ENSG00000214530.10	transcript	ENST00000334805.11	protein_coding	2/6			chr11	TogoVar
STARD8_chrX_68642666_68730836	68643169	GTATATAT others(18): Show GTATATATTATATATATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	157	0.0064	-25	c.-47 others(36): Show c.-4713_-4689delTATATATTATATATATATATATATA	STARD8	ENSG00000130052.14	transcript	ENST00000374599.8	protein_coding		4496		chrX	TogoVar
STARD8_chrX_68642666_68730836	68650782	CAAACAAA others(18): Show CAAACAAAACAAAACAAAACAAAACA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03486.hp1 HG02451.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0181 a0001c0001t0010g0182 a0001c0001t0010g0181 a0001c0001t0010g0182	2	80	0.0250	-25	c.45+ others(40): Show c.45+2890_45+2914delAAAACAAAACAAAACAAAACAAAAC	STARD8	ENSG00000130052.14	transcript	ENST00000374599.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chrX	TogoVar
STARD9_chr15_42570606_42725998	42620727	CTTTTATT others(18): Show CTTTTATTTTATTTTATTTTATTTTA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02886.hp1 HG02145.hp2 HG02886.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0010 a0005c0006t0002g0011 a0005c0006t0002g0010 a0005c0006t0002g0011	2	128	0.0156	-25	c.235 others(44): Show c.235-14109_235-14085delATTTTATTTTATTTTATTTTATTTT	STARD9	ENSG00000159433.12	transcript	ENST00000290607.12	protein_coding	3/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
STARD9_chr15_42570606_42725998	42656327	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02895.hp2 HG02897.hp2 HG01981.hp2 HG02895.hp2 HG02897.hp2	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0008 a0010c0014t0012 a0010c0014t0008 a0010c0014t0012	a0010c0014t0008g0021 a0010c0014t0008g0022 a0010c0014t0012g0157 a0010c0014t0008g0021 a0010c0014t0008g0022 a0010c0014t0012g0157	3	62	0.0484	-25	c.702 others(42): Show c.702+3751_702+3775delAAAAAAAAAAAAAAAAAAAAAAAAA	STARD9	ENSG00000159433.12	transcript	ENST00000290607.12	protein_coding	9/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
STAT5B_chr17_42194177_42281391	42221966	TGTGTGGT others(18): Show TGTGTGGTGTGTGTGTGCTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02602.hp1 NA21309.hp1 HG01243.hp1 HG02602.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0018 a0001c0001t0008 a0001c0001t0018	a0001c0001t0008g0014 a0001c0001t0008g0114 a0001c0001t0018g0075 a0001c0001t0008g0014 a0001c0001t0008g0114 a0001c0001t0018g0075	3	258	0.0116	-25	c.550 others(42): Show c.550+1391_550+1415delCACACACAGCACACACACACCACAC	STAT5B	ENSG00000173757.11	transcript	ENST00000293328.8	protein_coding	5/18			chr17	TogoVar
STAT6_chr12_57090408_57116362	57102965	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00438.hp1 others(122): Show HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp2 HG01952.hp2 HG01981.hp1 HG02040.hp2 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02155.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02559.hp2 HG02683.hp2 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02922.hp1 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03490.hp1 HG03492.hp2 HG03540.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp2 NA18906.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18949.hp2 NA18952.hp1 NA18955.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp2 NA18967.hp1 NA18967.hp2 NA18974.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp2 NA18983.hp2 NA18989.hp2 NA18990.hp2 NA18993.hp2 NA18999.hp1 NA18999.hp2 NA19007.hp1 NA19012.hp1 NA19054.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19062.hp2 NA19064.hp1 NA19067.hp1 NA19070.hp1 NA19082.hp2 NA19084.hp2 NA19086.hp2 NA19091.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(22): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0031 a0001c0001t0032 a0001c0001t0034 a0001c0003t0002 a0001c0003t0007 a0001c0003t0012	a0001c0001t0002g0001 a0001c0001t0002g0010 a0001c0001t0002g0015 others(64): Show a0001c0001t0002g0001 a0001c0001t0002g0010 a0001c0001t0002g0015 a0001c0001t0002g0026 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0003g0174 a0001c0001t0004g0177 a0001c0001t0005g0005 a0001c0001t0005g0206 a0001c0001t0005g0207 a0001c0001t0005g0217 a0001c0001t0005g0218 a0001c0001t0005g0226 a0001c0001t0006g0003 a0001c0001t0006g0016 a0001c0001t0006g0120 a0001c0001t0006g0191 a0001c0001t0007g0090 a0001c0001t0009g0022 a0001c0001t0009g0175 a0001c0001t0009g0176 a0001c0001t0009g0189 a0001c0001t0010g0205 a0001c0001t0011g0105 a0001c0001t0013g0072 a0001c0001t0014g0023 a0001c0001t0014g0219 a0001c0001t0014g0220 a0001c0001t0015g0032 a0001c0001t0015g0067 a0001c0001t0018g0014 a0001c0001t0020g0233 a0001c0001t0020g0234 a0001c0001t0022g0059 a0001c0001t0022g0077 a0001c0001t0023g0033 a0001c0001t0024g0229 a0001c0001t0024g0235 a0001c0001t0025g0232 a0001c0001t0027g0078 a0001c0001t0031g0185 a0001c0001t0032g0203 a0001c0001t0034g0216 a0001c0003t0002g0070 a0001c0003t0002g0080 a0001c0003t0007g0073 a0001c0003t0012g0110	125	149	0.8389	-25	c.121 others(40): Show c.1213-69_1213-45delAAAAAAAAAAAAAAAAAAAAAAAAA	STAT6	ENSG00000166888.12	transcript	ENST00000300134.8	protein_coding	11/21			chr12	TogoVar
STAU1_chr20_49108339_49193334	49189201	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0175 a0001c0001t0001g0177	2	66	0.0303	-25	c.-12 others(36): Show c.-1270_-1246delTTTTTTTTTTTTTTTTTTTTTTTTT	STAU1	ENSG00000124214.21	transcript	ENST00000371856.7	protein_coding		868		chr20	TogoVar
STEAP1B_chr7_22414444_22505188	22449088	ATAATGGA others(18): Show ATAATGGAGAATGGGGTACCCATCCC	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01106.hp2 HG01256.hp1 others(18): Show HG01099.hp1 HG01106.hp2 HG01256.hp1 HG01358.hp1 HG01361.hp1 HG01928.hp2 HG01943.hp1 HG01978.hp2 HG02148.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02976.hp2 HG03041.hp1 HG04199.hp1 NA18939.hp2 NA18967.hp1 NA18978.hp1 NA18990.hp2 NA19091.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(2): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0003c0003t0002 a0004c0004t0001	a0001c0001t0001g0127 a0002c0002t0001g0013 a0002c0002t0001g0228 others(18): Show a0001c0001t0001g0127 a0002c0002t0001g0013 a0002c0002t0001g0228 a0002c0002t0001g0278 a0002c0002t0001g0328 a0003c0003t0001g0203 a0003c0003t0001g0205 a0003c0003t0001g0213 a0003c0003t0002g0193 a0003c0003t0002g0202 a0004c0004t0001g0158 a0004c0004t0001g0159 a0004c0004t0001g0161 a0004c0004t0001g0162 a0004c0004t0001g0163 a0004c0004t0001g0164 a0004c0004t0001g0165 a0004c0004t0001g0166 a0004c0004t0001g0167 a0004c0004t0001g0175 a0004c0004t0001g0176	21	382	0.0550	-25	c.763 others(44): Show c.763-29277_763-29253delGGGATGGGTACCCCATTCTCCATTA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEEP1_chrX_119533149_119570409	119557485	AAAAAAAA others(18): Show AAAAAAAAAAAGAAAAAAGAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	291	0.0034	-25	c.242 others(42): Show c.242+2758_242+2782delCTTTTTTCTTTTTTCTTTTTTTTTT	STEEP1	ENSG00000018610.15	transcript	ENST00000644802.2	protein_coding	2/6			chrX	TogoVar
STIM1_chr11_3850664_4098208	3894561	CTACAGGT others(18): Show CTACAGGTTCTCTTTCAGTTGTCCAA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0120 a0001c0002t0001g0120	1	298	0.0034	-25	c.139 others(44): Show c.139+38153_139+38177delTACAGGTTCTCTTTCAGTTGTCCAA	STIM1	ENSG00000167323.13	transcript	ENST00000526596.2	protein_coding	1/12			chr11	TogoVar
STK10_chr5_172037079_172193224	172076129	CTTTGTTG others(18): Show CTTTGTTGTGGGGGCTGTCCTGTGCA	C C	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	230	0.0043	-25	c.198 others(44): Show c.1989+6172_1989+6196delTGCACAGGACAGCCCCCACAACAAA	STK10	ENSG00000072786.13	transcript	ENST00000176763.10	protein_coding	12/18			chr5	TogoVar
STK32A_chr5_147230026_147392855	147314502	AAAAACAA others(18): Show AAAAACAAAAAAAAACAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0217 a0001c0001t0007g0217	1	314	0.0032	-25	c.261 others(42): Show c.261-9391_261-9367delCAAAAAAAAACAAAAAAAAACAAAA	STK32A	ENSG00000169302.16	transcript	ENST00000397936.8	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
STK32B_chr4_5046480_5505989	5316388	AATATATT others(18): Show AATATATTACATATATAATATATAAT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01256.hp2 HG02486.hp1 HG00544.hp1 HG01256.hp2 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0027 a0001c0001t0001g0161 a0001c0001t0003g0105 a0001c0001t0001g0027 a0001c0001t0001g0161 a0001c0001t0003g0105	3	77	0.0390	-25	c.261 others(44): Show c.261-14633_261-14609delATATATATTACATATATAATATATA	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STK32B_chr4_5046480_5505989	5385913	TCCCCACC others(18): Show TCCCCACCCACAGCCCCACCCACAGC	T T	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	168	0.0060	-25	c.435 others(44): Show c.435-12287_435-12263delCCACAGCCCCACCCACAGCCCCCAC	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STK32B_chr4_5046480_5505989	5385927	CCCACCCA others(18): Show CCCACCCACAGCCCCCACTCACAGCT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00544.hp2 others(88): Show HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01261.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01978.hp1 HG02055.hp1 HG02055.hp2 HG02083.hp1 HG02145.hp1 HG02145.hp2 HG02280.hp1 HG02300.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp1 HG02965.hp1 HG02965.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03516.hp2 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18944.hp2 NA18952.hp2 NA18971.hp1 NA18971.hp2 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA19009.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19065.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp2 NA19240.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0003 a0001c0005 others(8): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0009 a0002c0002 a0002c0004 a0002c0007 a0003c0011 a0004c0008 a0005c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0003t0001 a0001c0003t0002 a0001c0003t0007 a0001c0005t0002 a0001c0005t0008 a0001c0006t0001 a0001c0009t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0004t0001 a0002c0004t0002 a0002c0004t0009 a0002c0004t0017 a0002c0004t0020 a0002c0007t0010 a0003c0011t0001 a0004c0008t0006 a0005c0010t0004	a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0019 others(88): Show a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0040 a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0114 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0001g0146 a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0002g0008 a0001c0001t0002g0020 a0001c0001t0002g0070 a0001c0001t0002g0126 a0001c0001t0003g0024 a0001c0001t0003g0054 a0001c0001t0003g0080 a0001c0001t0003g0093 a0001c0001t0003g0102 a0001c0001t0003g0117 a0001c0001t0005g0077 a0001c0001t0005g0122 a0001c0001t0005g0132 a0001c0001t0005g0164 a0001c0001t0005g0165 a0001c0001t0005g0168 a0001c0001t0006g0047 a0001c0001t0007g0113 a0001c0001t0008g0069 a0001c0001t0010g0004 a0001c0001t0012g0072 a0001c0001t0015g0148 a0001c0001t0016g0055 a0001c0001t0019g0144 a0001c0001t0021g0123 a0001c0001t0022g0134 a0001c0001t0024g0157 a0001c0003t0001g0022 a0001c0003t0001g0061 a0001c0003t0001g0115 a0001c0003t0001g0127 a0001c0003t0001g0129 a0001c0003t0001g0138 a0001c0003t0001g0151 a0001c0003t0002g0035 a0001c0003t0002g0048 a0001c0003t0002g0108 a0001c0003t0002g0120 a0001c0003t0007g0074 a0001c0005t0002g0016 a0001c0005t0002g0017 a0001c0005t0008g0015 a0001c0006t0001g0084 a0001c0006t0001g0155 a0001c0009t0001g0154 a0002c0002t0001g0026 a0002c0002t0001g0039 a0002c0002t0001g0059 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0087 a0002c0002t0001g0095 a0002c0002t0001g0124 a0002c0002t0001g0141 a0002c0002t0001g0145 a0002c0002t0001g0160 a0002c0002t0001g0167 a0002c0002t0002g0064 a0002c0002t0003g0118 a0002c0002t0004g0092 a0002c0002t0004g0104 a0002c0002t0004g0111 a0002c0002t0004g0116 a0002c0004t0001g0140 a0002c0004t0002g0128 a0002c0004t0009g0075 a0002c0004t0009g0149 a0002c0004t0017g0121 a0002c0004t0020g0073 a0002c0007t0010g0003 a0003c0011t0001g0044 a0004c0008t0006g0135 a0005c0010t0004g0119	91	168	0.5417	-25	c.435 others(44): Show c.435-12237_435-12213delTCACAGCTCCACCCACAGCCCCCAC	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STK32C_chr10_132202492_132312950	132205956	CAGCCAAC others(18): Show CAGCCAACATCCAGGGCGGGACAGAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0006 a0006	a0006c0018 a0006c0018	a0006c0018t0013 a0006c0018t0013	a0006c0018t0013g0143 a0006c0018t0013g0143	1	352	0.0028	-25	c.20 others(36): Show c.2029_*2053delCTCTGTCCCGCCCTGGATGTTGGCT	STK32C	ENSG00000165752.17	transcript	ENST00000298630.8	protein_coding		1535		chr10	TogoVar
STK33_chr11_8386870_8599228	8553176	ATATATAT others(18): Show ATATATATATATATATATATATGGTG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0246 a0001c0002t0001g0246	1	330	0.0030	-25	c.-46 others(46): Show c.-466+40882_-466+40906delCACCATATATATATATATATATAT A	STK33	ENSG00000130413.16	transcript	ENST00000687296.1	protein_coding	1/15			chr11	TogoVar
STK39_chr2_167949022_168252595	168018525	AAAGAAAA others(18): Show AAAGAAAAGAAAGAAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01884.hp1 HG01884.hp2 others(6): Show HG01074.hp2 HG01884.hp1 HG01884.hp2 HG02647.hp2 HG02717.hp1 HG03130.hp2 HG03209.hp1 NA19030.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0011 a0001c0001t0013 others(3): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0013 a0001c0003t0029 a0002c0002t0002 a0002c0002t0015	a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0194 others(6): Show a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0011g0129 a0001c0001t0013g0051 a0001c0003t0029g0138 a0002c0002t0002g0073 a0002c0002t0015g0007	9	267	0.0337	-25	c.137 others(44): Show c.1377-1455_1377-1431delCTTTCTTTCTTTTCTTTCTTTTCTT	STK39	ENSG00000198648.12	transcript	ENST00000355999.5	protein_coding	14/17			chr2	TogoVar
STK3_chr8_98449633_98830688	98614587	GGCCAGTG others(18): Show GGCCAGTGGGTGTGCGCACCGTGCGC	G G	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA18522.hp2 HG03098.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0146 a0001c0001t0001g0027 a0001c0001t0001g0146	2	168	0.0119	-25	c.685 others(44): Show c.685-18443_685-18419delGCGCACGGTGCGCACACCCACTGGC	STK3	ENSG00000104375.17	transcript	ENST00000419617.7	protein_coding	6/10			chr8	TogoVar
STK3_chr8_98449633_98830688	98795796	AAATACAA others(18): Show AAATACAATACAATACAATACAATAC	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	69	0.0145	-25	c.27- others(42): Show c.27-21002_27-20978delGTATTGTATTGTATTGTATTGTATT	STK3	ENSG00000104375.17	transcript	ENST00000419617.7	protein_coding	1/10			chr8	TogoVar

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