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
SCUBE1_chr22_43192280_43348372	43281003	TCCCTTGG others(37): Show TCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTATCCTGTCA	T T	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0005 a0001c0035t0005	a0001c0035t0005g0208 a0001c0035t0005g0208	1	278	0.0036	-44	c.484 others(62): Show c.484+9999_484+10042delTGACAGGATAGCTGAGGAGGAGATGAC AGAAGGGTGGCCAAGGG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281113	CTGTCACC others(37): Show CTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA18990.hp2 HG02109.hp2 NA18990.hp2	a0001 a0002 a0001 a0002	a0001c0012 a0002c0002 a0001c0012 a0002c0002	a0001c0012t0090 a0002c0002t0013 a0001c0012t0090 a0002c0002t0013	a0001c0012t0090g0277 a0002c0002t0013g0169 a0001c0012t0090g0277 a0002c0002t0013g0169	2	278	0.0072	-44	c.484 others(61): Show c.484+9889_484+9932delTAGCTGAGGAGGAGATGACAGAAGGGTG GCCAAGGGAGGTGACA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281232	TGTCACCT others(37): Show TGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTAC	T T	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02109.hp2 HG02165.hp2 others(6): Show HG02074.hp1 HG02109.hp2 HG02165.hp2 HG02886.hp2 HG03098.hp2 HG03130.hp2 NA18747.hp2 NA19002.hp2 NA19080.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0012 a0001c0024 a0002c0002 others(2): Show a0001c0012 a0001c0024 a0002c0002 a0003c0001 a0005c0030	a0001c0012t0090 a0001c0024t0088 a0002c0002t0001 others(4): Show a0001c0012t0090 a0001c0024t0088 a0002c0002t0001 a0002c0002t0002 a0002c0002t0089 a0003c0001t0001 a0005c0030t0014	a0001c0012t0090g0277 a0001c0024t0088g0272 a0002c0002t0001g0120 others(6): Show a0001c0012t0090g0277 a0001c0024t0088g0272 a0002c0002t0001g0120 a0002c0002t0002g0105 a0002c0002t0002g0223 a0002c0002t0089g0278 a0003c0001t0001g0157 a0003c0001t0001g0174 a0005c0030t0014g0238	9	278	0.0324	-44	c.484 others(61): Show c.484+9770_484+9813delGTAGCTGAGGAGGAGATGACAGAAGGGT GGCCAAGGGAGGTGAC	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281352	CTGTCACC others(37): Show CTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02257.hp1 HG02615.hp2 others(9): Show HG02055.hp2 HG02257.hp1 HG02615.hp2 HG02896.hp2 HG02897.hp2 HG03041.hp2 HG03130.hp2 HG03225.hp2 NA18943.hp2 NA19003.hp2 NA19005.hp1 NA20129.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0020 a0001c0021 a0002c0002 others(4): Show a0001c0020 a0001c0021 a0002c0002 a0003c0001 a0005c0030 a0005c0031 a0006c0015	a0001c0020t0017 a0001c0021t0004 a0001c0021t0021 others(8): Show a0001c0020t0017 a0001c0021t0004 a0001c0021t0021 a0002c0002t0002 a0002c0002t0004 a0002c0002t0011 a0003c0001t0001 a0003c0001t0048 a0005c0030t0014 a0005c0031t0004 a0006c0015t0007	a0001c0020t0017g0014 a0001c0021t0004g0073 a0001c0021t0021g0075 others(9): Show a0001c0020t0017g0014 a0001c0021t0004g0073 a0001c0021t0021g0075 a0002c0002t0002g0263 a0002c0002t0004g0033 a0002c0002t0011g0012 a0003c0001t0001g0201 a0003c0001t0001g0210 a0003c0001t0048g0141 a0005c0030t0014g0238 a0005c0031t0004g0255 a0006c0015t0007g0069	12	278	0.0432	-44	c.484 others(61): Show c.484+9650_484+9693delTAGCTGAGGAGGAGATGACAGAAGGGTG GCCAAGGGAGGTGACA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281364	TTGGCCAC others(37): Show TTGGCCACCCTTCTGTCATCTCCTCCTCAGCTATCCTGTCACCTC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0163 a0002c0002t0002g0163	1	278	0.0036	-44	c.484 others(61): Show c.484+9638_484+9681delGAGGTGACAGGATAGCTGAGGAGGAGAT GACAGAAGGGTGGCCA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCYL3_chr1_169844631_169898896	169854094	CATTTTTC others(37): Show CATTTTTCTGGGGGAAGGAAAGATAGATACCAATGATAGAAACTG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02976.hp2 HG03041.hp2 others(2): Show HG01884.hp1 HG02976.hp2 HG03041.hp2 HG03516.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0026 a0001c0001t0015g0101 a0001c0001t0015g0154 others(1): Show a0001c0001t0015g0026 a0001c0001t0015g0101 a0001c0001t0015g0154 a0001c0001t0015g0162	5	416	0.0120	-44	c.200 others(61): Show c.2007+132_2007+175delCAGTTTCTATCATTGGTATCTATCTTTC CTTCCCCCAGAAAAAT	SCYL3	ENSG00000000457.14	transcript	ENST00000367771.11	protein_coding	12/12			chr1	TogoVar
SDK2_chr17_73329384_73649445	73371223	CTGATGCT others(37): Show CTGATGCTAAAAGTTTGCCATTATTAGCACACAGGTGGTCTTCCG	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02451.hp2 HG02976.hp1 HG02109.hp1 HG02451.hp2 HG02976.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0073 a0002c0059 a0006c0042 a0001c0073 a0002c0059 a0006c0042	a0001c0073t0038 a0002c0059t0063 a0006c0042t0053 a0001c0073t0038 a0002c0059t0063 a0006c0042t0053	a0001c0073t0038g0080 a0002c0059t0063g0145 a0006c0042t0053g0030 a0001c0073t0038g0080 a0002c0059t0063g0145 a0006c0042t0053g0030	3	202	0.0149	-44	c.498 others(63): Show c.4981-2674_4981-2631delCGGAAGACCACCTGTGTGCTAATAAT GGCAAACTTTTAGCATCA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	36/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73595948	TGGAGAAG others(37): Show TGGAGAAGCCCTTGACACATAGGATTGCAGAAGTCAGAGGTCTTG	T T	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01981.hp2 HG04115.hp2 HG01361.hp1 HG01981.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0023 a0001c0002 a0001c0007 a0001c0023	a0001c0002t0001 a0001c0007t0003 a0001c0023t0017 a0001c0002t0001 a0001c0007t0003 a0001c0023t0017	a0001c0002t0001g0139 a0001c0007t0003g0026 a0001c0023t0017g0187 a0001c0002t0001g0139 a0001c0007t0003g0026 a0001c0023t0017g0187	3	202	0.0149	-44	c.64+ others(61): Show c.64+48033_64+48076delCAAGACCTCTGACTTCTGCAATCCTATG TGTCAAGGGCTTCTCC	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	1/44			chr17	TogoVar
SELENON_chr1_25795193_25823221	25808294	CTGCGCCT others(37): Show CTGCGCCTGGGTGGGCTGTGCCTGGGTGGGCTGTGCCTGGGTGGG	C C	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0118 a0001c0001t0002g0118	1	390	0.0026	-44	c.538 others(59): Show c.538-285_538-242delTGCGCCTGGGTGGGCTGTGCCTGGGTGGGC TGTGCCTGGGTGGG	SELENON	ENSG00000162430.18	transcript	ENST00000361547.7	protein_coding	4/12		WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS	chr1	TogoVar
SEMA6A_chr5_116438555_116579823	116471619	ATAGATGA others(37): Show ATAGATGAGGGAACATTAAAGTTGGATGAATTCTGTGGGCTTATC	A A	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0261 a0001c0001t0064g0261	1	302	0.0033	-44	c.172 others(63): Show c.1729+1410_1729+1453delGATAAGCCCACAGAATTCATCCAACT TTAATGTTCCCTCATCTA	SEMA6A	ENSG00000092421.17	transcript	ENST00000343348.11	protein_coding	17/18			chr5	TogoVar
SENP3_chr17_7556919_7576969	7571868	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATATATAAAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0010	1	438	0.0023	-44	c.39 others(53): Show c.393_*436delTATATATATATATATATATATATATATATATATAAA AATATATA	SENP3	ENSG00000161956.14	transcript	ENST00000321337.12	protein_coding	11/11	393	INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN7_chr7_35796057_35912110	35838282	TTCCTTCC others(37): Show TTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01099.hp1 HG01123.hp2 others(1): Show HG00140.hp2 HG01099.hp1 HG01123.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0160 a0001c0001t0002g0161 others(1): Show a0001c0001t0002g0073 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0166	4	314	0.0127	-44	c.169 others(61): Show c.169+5386_169+5429delTTCCTTCCTTCCTTCCTTCCCTCCCTCC CTCCCTCCCTCCCTCC	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEPTIN7_chr7_35796057_35912110	35838286	TTCCTTCC others(37): Show TTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18973.hp1 NA18991.hp2 others(3): Show HG00609.hp2 NA18973.hp1 NA18991.hp2 NA19006.hp2 NA19070.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 others(3): Show a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0007g0157	6	305	0.0197	-44	c.169 others(61): Show c.169+5390_169+5433delTTCCTTCCTTCCTTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCC	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEPTIN7_chr7_35796057_35912110	35838290	TTCCTTCC others(37): Show TTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00673.hp1 others(36): Show HG00408.hp1 HG00438.hp1 HG00673.hp1 HG02074.hp1 HG02080.hp2 HG02257.hp2 HG02615.hp2 HG02622.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG03041.hp2 HG03098.hp2 HG03453.hp2 HG04115.hp1 NA18906.hp1 NA18940.hp1 NA18954.hp2 NA18966.hp1 NA18974.hp1 NA18974.hp2 NA18989.hp1 NA18989.hp2 NA18995.hp2 NA19001.hp1 NA19010.hp2 NA19043.hp1 NA19072.hp1 NA19078.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp2 NA19087.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0017 a0001c0001t0028 a0001c0001t0031 a0001c0002t0001 a0001c0004t0013	a0001c0001t0001g0182 a0001c0001t0002g0028 a0001c0001t0002g0108 others(34): Show a0001c0001t0001g0182 a0001c0001t0002g0028 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0125 a0001c0001t0002g0149 a0001c0001t0003g0002 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0212 a0001c0001t0003g0215 a0001c0001t0003g0217 a0001c0001t0004g0007 a0001c0001t0006g0057 a0001c0001t0008g0019 a0001c0001t0008g0020 a0001c0001t0008g0021 a0001c0001t0008g0022 a0001c0001t0008g0023 a0001c0001t0008g0024 a0001c0001t0008g0025 a0001c0001t0008g0026 a0001c0001t0011g0065 a0001c0001t0011g0067 a0001c0001t0017g0209 a0001c0001t0017g0216 a0001c0001t0028g0054 a0001c0001t0031g0167 a0001c0002t0001g0299 a0001c0004t0013g0044	39	322	0.1211	-44	c.169 others(61): Show c.169+5394_169+5437delTTCCTTCCTTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCC	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEPTIN7_chr7_35796057_35912110	35838294	TTCCTTCC others(37): Show TTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03486.hp1 HG03471.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0193 a0001c0001t0022g0194 a0001c0001t0022g0193 a0001c0001t0022g0194	2	295	0.0068	-44	c.169 others(61): Show c.169+5398_169+5441delTTCCTTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCC	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEPTIN7_chr7_35796057_35912110	35838298	TTCCTTCC others(37): Show TTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG01517.hp1 NA18941.hp1 HG01517.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0324 a0001c0001t0001g0231 a0001c0001t0001g0324	2	287	0.0070	-44	c.169 others(61): Show c.169+5402_169+5445delTTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCC	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SERPINB13_chr18_63582343_63604192	63591366	GCCTTCCT others(37): Show GCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTTTTTCTTT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00544.hp2 others(56): Show HG00099.hp1 HG00140.hp2 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00738.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01496.hp2 HG01934.hp2 HG01981.hp1 HG02055.hp1 HG02083.hp2 HG02135.hp2 HG02738.hp1 HG03831.hp2 HG04228.hp2 HG06807.hp2 NA18612.hp2 NA18747.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18949.hp2 NA18956.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18968.hp2 NA18977.hp1 NA18988.hp2 NA18991.hp1 NA18991.hp2 NA18997.hp1 NA19002.hp1 NA19006.hp1 NA19006.hp2 NA19056.hp2 NA19058.hp2 NA19059.hp1 NA19063.hp2 NA19064.hp2 NA19072.hp1 NA19074.hp1 NA19076.hp1 NA19078.hp2 NA19080.hp1 NA19084.hp1 NA19084.hp2 NA19086.hp2 NA19087.hp1 NA19091.hp1 NA20752.hp2 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0007 a0001c0001t0017 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0017 a0001c0001t0019 a0003c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0018 others(19): Show a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0042 a0001c0001t0001g0079 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0117 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0157 a0001c0001t0007g0020 a0001c0001t0017g0002 a0001c0001t0019g0015 a0003c0005t0001g0002 a0003c0005t0001g0042 a0003c0005t0001g0089	59	437	0.1350	-44	c.226 others(59): Show c.226-920_226-877delCTTCCCTCCTTCCTTCCTTTTTTCTTTCCT TCCTTCCTTCCTTC	SERPINB13	ENSG00000197641.12	transcript	ENST00000344731.10	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPINE2_chr2_223970045_224044286	223982082	GAGCAATG others(37): Show GAGCAATGACTAGATAAAGAAAATGAGGTATGTACACATCATGGA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02723.hp2 HG02886.hp1 others(2): Show HG02145.hp2 HG02723.hp2 HG02886.hp1 HG02970.hp2 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0006 a0001c0003t0014 a0001c0003t0005 a0001c0003t0006 a0001c0003t0014	a0001c0003t0005g0028 a0001c0003t0005g0190 a0001c0003t0006g0280 others(2): Show a0001c0003t0005g0028 a0001c0003t0005g0190 a0001c0003t0006g0280 a0001c0003t0006g0281 a0001c0003t0014g0347	5	372	0.0134	-44	c.985 others(59): Show c.985+555_985+598delTCCATGATGTGTACATACCTCATTTTCTTT ATCTAGTCATTGCT	SERPINE2	ENSG00000135919.14	transcript	ENST00000409304.6	protein_coding	6/8			chr2	TogoVar
SERTM1_chr13_36669020_36702839	36677107	CTAGGATA others(37): Show CTAGGATACAACGTCTTCATGCTCAGTCTCATGACATAAAATGCG	C C	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0134 a0001c0001t0003g0134	1	436	0.0023	-44	c.-17 others(63): Show c.-174+2925_-174+2968delAGGATACAACGTCTTCATGCTCAGTC TCATGACATAAAATGCGT	SERTM1	ENSG00000180440.4	transcript	ENST00000315190.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
SETBP1_chr18_44675888_45073510	44868701	CGGAAGGA others(37): Show CGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00438.hp2 others(26): Show HG00099.hp2 HG00140.hp2 HG00438.hp2 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01071.hp1 HG01192.hp2 HG01255.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp2 HG02055.hp1 HG02109.hp1 HG02165.hp2 HG02630.hp1 HG02895.hp2 HG02896.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03471.hp1 HG03516.hp1 HG03654.hp2 NA18953.hp2 NA18963.hp1 NA18964.hp2 NA18989.hp1 NA19000.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0006 a0007 a0008 a0012	a0001c0001 a0001c0005 a0001c0010 others(7): Show a0001c0001 a0001c0005 a0001c0010 a0002c0002 a0004c0004 a0004c0015 a0006c0007 a0007c0008 a0008c0013 a0012c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0015 a0001c0005t0001 a0001c0010t0007 a0002c0002t0001 a0002c0002t0004 a0002c0002t0006 a0004c0004t0001 a0004c0004t0002 a0004c0004t0007 a0004c0015t0004 a0006c0007t0023 a0007c0008t0002 a0008c0013t0021 a0012c0018t0004	a0001c0001t0001g0017 a0001c0001t0001g0034 a0001c0001t0001g0076 others(26): Show a0001c0001t0001g0017 a0001c0001t0001g0034 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0130 a0001c0001t0002g0038 a0001c0001t0003g0059 a0001c0001t0005g0082 a0001c0001t0009g0080 a0001c0001t0015g0015 a0001c0005t0001g0087 a0001c0005t0001g0111 a0001c0010t0007g0058 a0001c0010t0007g0113 a0002c0002t0001g0020 a0002c0002t0004g0074 a0002c0002t0006g0048 a0004c0004t0001g0019 a0004c0004t0001g0024 a0004c0004t0001g0088 a0004c0004t0001g0119 a0004c0004t0002g0081 a0004c0004t0007g0070 a0004c0015t0004g0036 a0006c0007t0023g0062 a0007c0008t0002g0083 a0007c0008t0002g0089 a0008c0013t0021g0093 a0012c0018t0004g0050	29	102	0.2843	-44	c.487 others(59): Show c.487-518_487-475delGAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGG	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SF3B2_chr11_66047364_66074308	66072852	ACTGGCAA others(37): Show ACTGGCAAGGAGCTGCAGCAGAGGGGCGTGAATGAAATCATTGAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	392	0.0026	-44	c.41 others(55): Show c.4108_*4151delCTGGCAAGGAGCTGCAGCAGAGGGGCGTGAATGA AATCATTGAC	SF3B2	ENSG00000087365.16	transcript	ENST00000322535.11	protein_coding		3545		chr11	TogoVar
SGCZ_chr8_14079845_15243431	14440682	CGTATACA others(37): Show CGTATACACGTATATGTATATATGTATATACATACGTATACACGT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00642.hp1 HG01074.hp1 others(23): Show HG00438.hp1 HG00642.hp1 HG01074.hp1 HG01081.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02055.hp1 HG02135.hp2 HG02280.hp2 HG02451.hp1 HG02809.hp2 HG03195.hp1 HG03486.hp2 HG03540.hp1 HG03704.hp1 HG04204.hp2 HG06807.hp2 NA18906.hp1 NA19000.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(22): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0019 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0032 a0001c0001t0035 a0001c0001t0044 a0001c0001t0045 a0001c0001t0048 a0001c0001t0051 a0001c0001t0055 a0001c0001t0056 a0001c0001t0059 a0001c0001t0068 a0001c0001t0071 a0001c0001t0076 a0001c0001t0077 a0001c0001t0087 a0001c0001t0088 a0001c0001t0090 a0002c0002t0007 a0003c0003t0043	a0001c0001t0002g0079 a0001c0001t0003g0019 a0001c0001t0003g0020 others(23): Show a0001c0001t0002g0079 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0005g0072 a0001c0001t0019g0028 a0001c0001t0025g0021 a0001c0001t0026g0035 a0001c0001t0027g0010 a0001c0001t0032g0016 a0001c0001t0035g0014 a0001c0001t0044g0033 a0001c0001t0045g0008 a0001c0001t0048g0051 a0001c0001t0051g0074 a0001c0001t0055g0100 a0001c0001t0056g0062 a0001c0001t0059g0056 a0001c0001t0068g0064 a0001c0001t0071g0067 a0001c0001t0076g0073 a0001c0001t0077g0065 a0001c0001t0087g0088 a0001c0001t0088g0054 a0001c0001t0090g0084 a0002c0002t0007g0048 a0003c0003t0043g0041	26	100	0.2600	-44	c.234 others(65): Show c.234+114006_234+114049delACGTGTATACGTATGTATATACAT ATATACATATACGTGTATAC	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	2/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	15097815	CGTGTGTG others(37): Show CGTGTGTGTATATATATATACGTGTGTGTATATATATATATACGT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0051 a0001c0001t0048g0051	1	72	0.0139	-44	c.39+ others(63): Show c.39+139726_39+139769delACGTATATATATATATACACACACGT ATATATATATACACACAC	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGIP1_chr1_66529153_66756139	66629218	CTGATTGA others(37): Show CTGATTGAACCTCCTAAGATATACAGTGGGGTTAGGACCAGAATT	C C	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0016 a0002c0002t0003g0016	1	300	0.0033	-44	c.74+ others(59): Show c.74+3310_74+3353delGATTGAACCTCCTAAGATATACAGTGGGGT TAGGACCAGAATTT	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGK3_chr8_66707781_66867022	66839498	GATATATA others(37): Show GATATATATATATATATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	53	0.0189	-44	c.742 others(59): Show c.742-488_742-445delATATATATATATATATATATATATATATAT ATATATATATATAT	SGK3	ENSG00000104205.16	transcript	ENST00000521198.7	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
SGK3_chr8_66707781_66867022	66839515	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02895.hp1 NA18906.hp1 HG02145.hp2 HG02895.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0040 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0040	3	140	0.0214	-44	c.742 others(59): Show c.742-486_742-443delATATATATATATATATATATATATATATAT ATATATATATATTT	SGK3	ENSG00000104205.16	transcript	ENST00000521198.7	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
SGMS1_chr10_50300600_50628956	50399762	CTCACACC others(37): Show CTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGA	C C	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0015	1	310	0.0032	-44	c.-23 others(65): Show c.-232+33670_-232+33713delTCCGCCTGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGTGTGA	SGMS1	ENSG00000198964.14	transcript	ENST00000361781.7	protein_coding	6/10			chr10	TogoVar
SGSM1_chr22_24801211_24932578	24900365	TTCTTTCT others(37): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(103): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00673.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01256.hp1 HG01258.hp1 HG01346.hp1 HG01496.hp1 HG01515.hp2 HG01943.hp2 HG01952.hp1 HG01981.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02056.hp2 HG02135.hp2 HG02145.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp2 HG02523.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02896.hp1 HG03017.hp1 HG03098.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03669.hp2 HG03831.hp2 HG03942.hp1 HG04115.hp1 HG04204.hp1 NA18941.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18953.hp2 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18969.hp1 NA18969.hp2 NA18973.hp1 NA18973.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18983.hp1 NA18986.hp2 NA18989.hp1 NA18991.hp1 NA19002.hp1 NA19005.hp1 NA19009.hp2 NA19011.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19077.hp1 NA19077.hp2 NA19080.hp2 NA19081.hp2 NA19084.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA20752.hp1 NA20805.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0007 a0008	a0001c0001 a0001c0004 a0001c0006 others(9): Show a0001c0001 a0001c0004 a0001c0006 a0001c0014 a0001c0023 a0001c0027 a0001c0029 a0001c0044 a0002c0011 a0005c0024 a0007c0036 a0008c0037	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0018 a0001c0001t0026 a0001c0001t0033 a0001c0001t0034 a0001c0001t0036 a0001c0001t0038 a0001c0004t0002 a0001c0004t0004 a0001c0004t0005 a0001c0004t0006 a0001c0006t0002 a0001c0014t0002 a0001c0023t0012 a0001c0027t0003 a0001c0029t0001 a0001c0044t0002 a0002c0011t0001 a0005c0024t0002 a0007c0036t0039 a0008c0037t0002	a0001c0001t0001g0022 a0001c0001t0001g0052 a0001c0001t0001g0073 others(103): Show a0001c0001t0001g0022 a0001c0001t0001g0052 a0001c0001t0001g0073 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0202 a0001c0001t0001g0239 a0001c0001t0001g0244 a0001c0001t0001g0301 a0001c0001t0001g0315 a0001c0001t0002g0018 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0054 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0065 a0001c0001t0002g0081 a0001c0001t0002g0084 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0096 a0001c0001t0002g0103 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0130 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0148 a0001c0001t0002g0153 a0001c0001t0002g0196 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0208 a0001c0001t0002g0210 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0228 a0001c0001t0002g0231 a0001c0001t0002g0238 a0001c0001t0002g0241 a0001c0001t0002g0250 a0001c0001t0002g0254 a0001c0001t0002g0262 a0001c0001t0002g0266 a0001c0001t0002g0273 a0001c0001t0002g0280 a0001c0001t0002g0297 a0001c0001t0003g0024 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0212 a0001c0001t0003g0243 a0001c0001t0003g0253 a0001c0001t0003g0263 a0001c0001t0003g0267 a0001c0001t0004g0175 a0001c0001t0004g0180 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0190 a0001c0001t0005g0160 a0001c0001t0005g0166 a0001c0001t0005g0168 a0001c0001t0005g0178 a0001c0001t0005g0182 a0001c0001t0005g0189 a0001c0001t0006g0102 a0001c0001t0006g0216 a0001c0001t0006g0218 a0001c0001t0006g0281 a0001c0001t0006g0282 a0001c0001t0007g0023 a0001c0001t0007g0089 a0001c0001t0007g0115 a0001c0001t0007g0197 a0001c0001t0010g0298 a0001c0001t0018g0158 a0001c0001t0026g0077 a0001c0001t0033g0272 a0001c0001t0034g0329 a0001c0001t0036g0334 a0001c0001t0038g0233 a0001c0004t0002g0088 a0001c0004t0002g0116 a0001c0004t0002g0251 a0001c0004t0002g0333 a0001c0004t0004g0173 a0001c0004t0005g0172 a0001c0004t0006g0150 a0001c0006t0002g0264 a0001c0014t0002g0149 a0001c0023t0012g0285 a0001c0027t0003g0099 a0001c0029t0001g0037 a0001c0044t0002g0232 a0002c0011t0001g0093 a0002c0011t0001g0278 a0005c0024t0002g0220 a0007c0036t0039g0256 a0008c0037t0002g0108	106	336	0.3155	-44	c.261 others(63): Show c.2611-1466_2611-1423delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTGT	SGSM1	ENSG00000167037.19	transcript	ENST00000400358.9	protein_coding	19/24		INFO_REALIGN_3_PRIME	chr22	TogoVar
SH3BP5L_chr1_248805446_248830915	248812508	GCCTTCCC others(37): Show GCCTTCCCTGCTCCACTCTCAGCACCCACCACAGACCCACAACAC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00408.hp2 others(96): Show HG00099.hp1 HG00408.hp1 HG00408.hp2 HG00558.hp1 HG00609.hp1 HG00741.hp1 HG01099.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01256.hp2 HG01258.hp1 HG01361.hp2 HG01884.hp1 HG02015.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02486.hp1 HG02486.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02717.hp2 HG02738.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03453.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03942.hp1 NA18522.hp2 NA18612.hp2 NA18940.hp1 NA18941.hp1 NA18944.hp2 NA18945.hp2 NA18948.hp2 NA18955.hp1 NA18957.hp1 NA18959.hp1 NA18967.hp1 NA18972.hp1 NA18977.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18990.hp1 NA18991.hp1 NA18998.hp1 NA18998.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19060.hp2 NA19062.hp2 NA19064.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19078.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19088.hp2 NA19240.hp2 NA20129.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009	a0001c0001t0002g0014 a0001c0001t0002g0026 a0001c0001t0002g0028 others(50): Show a0001c0001t0002g0014 a0001c0001t0002g0026 a0001c0001t0002g0028 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0067 a0001c0001t0002g0073 a0001c0001t0002g0075 a0001c0001t0002g0078 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0104 a0001c0001t0003g0004 a0001c0001t0003g0007 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0020 a0001c0001t0003g0027 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0034 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0062 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0072 a0001c0001t0003g0074 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0004g0136 a0001c0001t0006g0021 a0001c0001t0006g0055 a0001c0001t0006g0096 a0001c0001t0006g0114 a0001c0001t0006g0115 a0001c0001t0006g0116 a0001c0001t0006g0117 a0001c0001t0008g0022 a0001c0001t0008g0118 a0001c0001t0009g0051 a0001c0001t0009g0151	99	410	0.2415	-44	c.712 others(59): Show c.712-182_712-139delGTGTTGTGGGTCTGTGGTGGGTGCTGAGAG TGGAGCAGGGAAGG	SH3BP5L	ENSG00000175137.11	transcript	ENST00000366472.6	protein_coding	6/6			chr1	TogoVar
SH3RF2_chr5_145931578_146068292	146064656	GAGAGAAA others(37): Show GAGAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG01070.hp2 others(6): Show HG00099.hp1 HG00408.hp2 HG01070.hp2 HG01071.hp1 HG02040.hp1 HG02559.hp1 HG02622.hp2 NA19002.hp1 NA20300.hp1	a0002 a0003 a0021 a0002 a0003 a0021	a0002c0002 a0003c0003 a0021c0019 a0002c0002 a0003c0003 a0021c0019	a0002c0002t0001 a0003c0003t0001 a0021c0019t0001 a0002c0002t0001 a0003c0003t0001 a0021c0019t0001	a0002c0002t0001g0005 a0002c0002t0001g0043 a0002c0002t0001g0185 others(5): Show a0002c0002t0001g0005 a0002c0002t0001g0043 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0251 a0003c0003t0001g0211 a0003c0003t0001g0215 a0021c0019t0001g0035	9	203	0.0443	-44	c.19 others(55): Show c.1956_*1999delAGAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAA	SH3RF2	ENSG00000156463.18	transcript	ENST00000359120.9	protein_coding		1365		chr5	TogoVar
SH3RF2_chr5_145931578_146068292	146064691	AAAGAAAG others(37): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 NA20805.hp2 HG03017.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0109 a0002c0002t0001g0195 a0002c0002t0001g0109 a0002c0002t0001g0195	2	267	0.0075	-44	c.19 others(55): Show c.1991_*2034delAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGGAAGG	SH3RF2	ENSG00000156463.18	transcript	ENST00000359120.9	protein_coding		1400		chr5	TogoVar
SH3RF3_chr2_109124205_109509634	109170275	TTCTCTTC others(37): Show TTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTCCTC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01928.hp2 others(7): Show HG01167.hp1 HG01169.hp2 HG01928.hp2 HG02027.hp2 HG02523.hp1 HG03239.hp1 NA18964.hp1 NA18975.hp1 NA19009.hp2 NA19011.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0013 a0003c0006 a0001c0001 a0002c0013 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0015 a0001c0001t0058 a0002c0013t0033 a0003c0006t0003	a0001c0001t0001g0054 a0001c0001t0002g0070 a0001c0001t0002g0098 others(7): Show a0001c0001t0001g0054 a0001c0001t0002g0070 a0001c0001t0002g0098 a0001c0001t0003g0092 a0001c0001t0003g0100 a0001c0001t0008g0011 a0001c0001t0015g0125 a0001c0001t0058g0086 a0002c0013t0033g0168 a0003c0006t0003g0095	10	172	0.0581	-44	c.573 others(63): Show c.573+40168_573+40211delTCTCTTCTCTTCTCTTCTCTTCTCTT CTCTTCTCTCCTCTCTCT	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SHISAL1_chr22_44238665_44317951	44266527	TATGTGTG others(37): Show TATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTGGAGGGCTCTG	T T	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp2 NA18950.hp1 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0094 a0001c0001t0015 a0001c0001t0094	a0001c0001t0015g0313 a0001c0001t0094g0329 a0001c0001t0015g0313 a0001c0001t0094g0329	2	378	0.0053	-44	c.600 others(63): Show c.600-16886_600-16843delCAGAGCCCTCCAACACACACACACAC ACACACACACACACACAT	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	4/4			chr22	TogoVar
SIAH3_chr13_45772242_45856753	45813194	GTCAGTAC others(37): Show GTCAGTACTGAGTCCCGGACCCAGTGGGAACATGGTGAGCCTATA	G G	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03225.hp2 HG03041.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0012 a0001c0001t0009 a0001c0001t0012	a0001c0001t0009g0033 a0001c0001t0012g0032 a0001c0001t0009g0033 a0001c0001t0012g0032	2	362	0.0055	-44	c.136 others(63): Show c.136-29181_136-29138delTATAGGCTCACCATGTTCCCACTGGG TCCGGGACTCAGTACTGA	SIAH3	ENSG00000215475.5	transcript	ENST00000400405.4	protein_coding	1/1			chr13	TogoVar
SIGIRR_chr11_400716_419999	400884	CCCCGCCC others(37): Show CCCCGCCCCGCTCACCCCCGCCCCGCTCACCCCGGACCCCGCTCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	239	0.0042	-44	c.49 others(55): Show c.4968_*5011delTGAGCGGGGTCCGGGGTGAGCGGGGCGGGGGTGA GCGGGGCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4831		chr11	TogoVar
SIM1_chr6_100380009_100469921	100412595	GAAAGAAA others(37): Show GAAAGAAAGAAAGAAAGGAAAGAAAGAAGGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0089 a0002c0002t0007g0089	1	302	0.0033	-44	c.116 others(63): Show c.1167+8151_1167+8194delTTTCTTTCTTTCTTTCCTTCTTTCTT TCCTTTCTTTCTTTCTTT	SIM1	ENSG00000112246.10	transcript	ENST00000369208.8	protein_coding	10/11			chr6	TogoVar
SIM1_chr6_100380009_100469921	100412599	GAAAGAAA others(37): Show GAAAGAAAGAAAGGAAAGAAAGAAGGAAAGAAAGAAAGAAAAGAA	G G	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0014	a0002c0002t0014g0254 a0002c0002t0014g0254	1	308	0.0032	-44	c.116 others(63): Show c.1167+8147_1167+8190delTTCTTTTCTTTCTTTCTTTCCTTCTT TCTTTCCTTTCTTTCTTT	SIM1	ENSG00000112246.10	transcript	ENST00000369208.8	protein_coding	10/11			chr6	TogoVar
SIM1_chr6_100380009_100469921	100412607	GAAAGGAA others(37): Show GAAAGGAAAGAAAGAAGGAAAGAAAGAAAGAAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0014 a0001c0001t0071g0014	1	313	0.0032	-44	c.116 others(63): Show c.1167+8139_1167+8182delTTCTTTCTTTCTTTTCTTTCTTTCTT TCCTTCTTTCTTTCCTTT	SIM1	ENSG00000112246.10	transcript	ENST00000369208.8	protein_coding	10/11			chr6	TogoVar
SIM1_chr6_100380009_100469921	100412673	GAAAGAAA others(37): Show GAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02970.hp1 HG01891.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0003 a0001c0001t0015g0003	2	307	0.0065	-44	c.116 others(63): Show c.1167+8073_1167+8116delTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTTTCTTTCTTT	SIM1	ENSG00000112246.10	transcript	ENST00000369208.8	protein_coding	10/11			chr6	TogoVar
SIM1_chr6_100380009_100469921	100412683	AAAAGAAA others(37): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA18522.hp1 HG02280.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0149 a0001c0001t0022g0165 a0001c0001t0022g0149 a0001c0001t0022g0165	2	152	0.0132	-44	c.116 others(63): Show c.1167+8063_1167+8106delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTT	SIM1	ENSG00000112246.10	transcript	ENST00000369208.8	protein_coding	10/11			chr6	TogoVar
SIPA1L1_chr14_71315476_71746209	71543960	TATGTATA others(37): Show TATGTATATATACACACACGCACATGTATATATACACACACGCAC	T T	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0157 a0001c0001t0003g0157	1	172	0.0058	-44	c.-30 others(65): Show c.-303+14606_-303+14649delCACGCACATGTATATATACACACA CGCACATGTATATATACACA	SIPA1L1	ENSG00000197555.10	transcript	ENST00000381232.8	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
SKI_chr1_2223319_2315213	2280720	CGATCTTC others(37): Show CGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGA	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01109.hp1 HG01123.hp2 others(7): Show HG00738.hp2 HG01109.hp1 HG01123.hp2 HG01952.hp2 HG02559.hp1 HG03017.hp2 HG03654.hp2 NA19088.hp1 NA20752.hp2 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0013 a0001c0001 a0003c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0001t0035 a0001c0001t0036 a0001c0001t0057 a0001c0001t0085 a0003c0013t0031	a0001c0001t0001g0206 a0001c0001t0002g0078 a0001c0001t0003g0159 others(7): Show a0001c0001t0001g0206 a0001c0001t0002g0078 a0001c0001t0003g0159 a0001c0001t0003g0225 a0001c0001t0012g0061 a0001c0001t0035g0263 a0001c0001t0036g0011 a0001c0001t0057g0298 a0001c0001t0085g0287 a0003c0013t0031g0177	10	295	0.0339	-44	c.970 others(63): Show c.970-22242_970-22199delAGATGCCCGAGAAGACAGGCGGTGGC GGAGATCTTCAGAGAGAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLBP_chr4_1687731_1717319	1707225	CAAAAAAA others(37): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG02647.hp1 others(5): Show HG01168.hp2 HG01169.hp1 HG02647.hp1 HG02976.hp1 HG03130.hp1 HG03239.hp1 NA18747.hp1 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0027 a0001c0001t0001g0064 a0001c0001t0001g0069 others(3): Show a0001c0001t0001g0027 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0227 a0001c0001t0003g0173 a0001c0001t0005g0022	8	9	0.8889	-44	c.177 others(61): Show c.177-3569_177-3526delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTT	SLBP	ENSG00000163950.13	transcript	ENST00000489418.6	protein_coding	2/7			chr4	TogoVar
SLC10A6_chr4_86818468_86854384	86842786	TTTTCTTT others(37): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18943.hp1 NA18947.hp2 others(8): Show NA18747.hp2 NA18943.hp1 NA18947.hp2 NA18975.hp1 NA18982.hp2 NA19055.hp1 NA19062.hp1 NA19063.hp2 NA19065.hp1 NA19081.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0069 others(8): Show a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0069 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0113	11	86	0.1279	-44	c.377 others(61): Show c.377+5909_377+5952delGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAA	SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5			chr4	TogoVar
SLC12A7_chr5_1045384_1117063	1096737	AAGGGAGG others(37): Show AAGGGAGGGAAGGAAGGAGGGAGGAAGGAAAGGAGGGAGGGGGGG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG01106.hp1 others(44): Show HG00639.hp1 HG00639.hp2 HG01106.hp1 HG01106.hp2 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01884.hp1 HG01993.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02132.hp1 HG02132.hp2 HG02486.hp1 HG02615.hp2 HG02683.hp2 HG02723.hp2 HG02895.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03654.hp2 HG03710.hp2 HG03927.hp1 HG04204.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18943.hp1 NA18943.hp2 NA18954.hp1 NA18984.hp1 NA18990.hp2 NA19065.hp1 NA20752.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0007	a0001c0001 a0001c0003 a0001c0005 others(19): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0013 a0001c0014 a0001c0028 a0001c0031 a0001c0035 a0002c0002 a0002c0004 a0002c0008 a0002c0012 a0002c0015 a0002c0024 a0002c0026 a0003c0027 a0005c0037 a0007c0021	a0001c0001t0001 a0001c0003t0003 a0001c0005t0002 others(24): Show a0001c0001t0001 a0001c0003t0003 a0001c0005t0002 a0001c0005t0009 a0001c0005t0013 a0001c0006t0001 a0001c0006t0011 a0001c0006t0021 a0001c0007t0006 a0001c0009t0006 a0001c0010t0005 a0001c0013t0003 a0001c0014t0003 a0001c0028t0002 a0001c0031t0003 a0001c0035t0001 a0002c0002t0002 a0002c0004t0001 a0002c0008t0002 a0002c0012t0003 a0002c0012t0024 a0002c0015t0001 a0002c0024t0002 a0002c0026t0004 a0003c0027t0004 a0005c0037t0003 a0007c0021t0004	a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0042 others(44): Show a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0066 a0001c0001t0001g0103 a0001c0003t0003g0005 a0001c0003t0003g0006 a0001c0003t0003g0014 a0001c0003t0003g0071 a0001c0005t0002g0043 a0001c0005t0002g0044 a0001c0005t0002g0050 a0001c0005t0009g0004 a0001c0005t0013g0077 a0001c0006t0001g0048 a0001c0006t0011g0078 a0001c0006t0021g0104 a0001c0007t0006g0023 a0001c0009t0006g0017 a0001c0010t0005g0009 a0001c0013t0003g0047 a0001c0014t0003g0093 a0001c0028t0002g0107 a0001c0031t0003g0007 a0001c0035t0001g0054 a0002c0002t0002g0045 a0002c0002t0002g0069 a0002c0002t0002g0083 a0002c0004t0001g0036 a0002c0004t0001g0037 a0002c0008t0002g0062 a0002c0008t0002g0068 a0002c0012t0003g0073 a0002c0012t0003g0075 a0002c0012t0024g0074 a0002c0015t0001g0027 a0002c0024t0002g0060 a0002c0026t0004g0086 a0003c0027t0004g0029 a0005c0037t0003g0008 a0007c0021t0004g0084	47	114	0.4123	-44	c.125 others(61): Show c.125-2533_125-2490delCCCCCCCTCCCTCCTTTCCTTCCTCCCT CCTTCCTTCCCTCCCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC13A5_chr17_6679719_6718369	6692129	ATGGATGG others(37): Show ATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGG	A A	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0154 a0001c0001t0007g0154	1	452	0.0022	-44	c.127 others(61): Show c.1275+871_1275+914delCCCATCTATCCATCCATCCATCCATCCA TCCATCCATCCATCCA	SLC13A5	ENSG00000141485.17	transcript	ENST00000433363.7	protein_coding	9/11			chr17	TogoVar
SLC15A1_chr13_98678801_98757672	98730227	AAGGGGAA others(37): Show AAGGGGAAGGGAAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02486.hp2 HG02630.hp1 others(4): Show HG02280.hp2 HG02486.hp2 HG02630.hp1 HG02809.hp1 HG03041.hp2 HG03453.hp1 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0005 a0001c0002t0022 a0001c0002t0032 others(1): Show a0001c0002t0005 a0001c0002t0022 a0001c0002t0032 a0001c0008t0009	a0001c0002t0005g0168 a0001c0002t0005g0174 a0001c0002t0005g0206 others(4): Show a0001c0002t0005g0168 a0001c0002t0005g0174 a0001c0002t0005g0206 a0001c0002t0022g0014 a0001c0002t0032g0166 a0001c0008t0009g0005 a0001c0008t0009g0006	7	386	0.0181	-44	c.5-3 others(57): Show c.5-3412_5-3369delCCCCTTCCCCTCCCCTTCCCCTCCCCTTCCCC TTCCCTTCCCCT	SLC15A1	ENSG00000088386.17	transcript	ENST00000376503.10	protein_coding	1/22			chr13	TogoVar
SLC16A3_chr17_82224042_82245086	82227569	TGGGAGCA others(37): Show TGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01261.hp2 NA19240.hp1 HG01123.hp2 HG01261.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0263 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0263	3	354	0.0085	-44	c.-15 others(55): Show c.-1563_-1520delGGGAGCACCACCTGCCCTGGGCGGGAGCACCACC TGCCCTGGGC	SLC16A3	ENSG00000141526.18	transcript	ENST00000582743.6	protein_coding		1472		chr17	TogoVar
SLC16A9_chr10_59645764_59714850	59681795	TATGTATA others(37): Show TATGTATATGTATATGTATATATGATGTATATGTATATGTATATG	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00738.hp1 HG01496.hp2 others(12): Show HG00280.hp2 HG00738.hp1 HG01496.hp2 HG02015.hp1 HG02083.hp1 HG02129.hp1 HG02895.hp1 HG03669.hp2 NA18945.hp2 NA18967.hp1 NA18994.hp1 NA18995.hp2 NA19058.hp2 NA19066.hp2 NA19074.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0005 a0001c0001 a0006c0005	a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 others(3): Show a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0026 a0006c0005t0013	a0001c0001t0006g0327 a0001c0001t0006g0330 a0001c0001t0006g0331 others(12): Show a0001c0001t0006g0327 a0001c0001t0006g0330 a0001c0001t0006g0331 a0001c0001t0006g0332 a0001c0001t0006g0333 a0001c0001t0006g0338 a0001c0001t0006g0339 a0001c0001t0006g0342 a0001c0001t0006g0343 a0001c0001t0008g0116 a0001c0001t0008g0248 a0001c0001t0012g0051 a0001c0001t0013g0187 a0001c0001t0026g0337 a0006c0005t0013g0185	15	350	0.0429	-44	c.196 others(61): Show c.196+2257_196+2300delCATATACATATACATATACATCATATAT ACATATACATATACAT	SLC16A9	ENSG00000165449.12	transcript	ENST00000395348.8	protein_coding	2/5			chr10	TogoVar
SLC1A5_chr19_46769883_46793594	46777644	CACCACCT others(37): Show CACCACCTGCCCAGCCAAAGCCCCGCCCACCCAGATCCCGCCCAT	C C	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0140 a0001c0001t0004g0140	1	426	0.0023	-44	c.105 others(61): Show c.1059-283_1059-240delATGGGCGGGATCTGGGTGGGCGGGGCTT TGGCTGGGCAGGTGGT	SLC1A5	ENSG00000105281.12	transcript	ENST00000542575.6	protein_coding	5/7			chr19	TogoVar

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