Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SELENOF_chr1_86857445_86919126	86883456	ATAGTGTA others(14): Show ATAGTGTATAGTGTATGTACAC	A A	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp2 HG04184.hp2 HG03490.hp1 HG03492.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0155 a0001c0001t0001g0013 a0001c0001t0001g0155	3	226	0.0133	-21	c.253 others(38): Show c.253-2752_253-2732delGTGTACATACACTATACACTA		SELENOF	ENSG00000183291.18	transcript	ENST00000331835.10	protein_coding	2/4						chr1	TogoVar
SEMA3A_chr7_83950777_84199789	83965645	TATATATA others(14): Show TATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0161 a0001c0003t0006g0161	1	276	0.0036	-21	c.171 others(40): Show c.1718-2319_1718-2299delTATATATATATATATATATAT		SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	15/16						chr7	TogoVar
SEMA3A_chr7_83950777_84199789	83965646	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0072 a0001c0003t0006g0072	1	276	0.0036	-21	c.171 others(40): Show c.1718-2320_1718-2300delATATATATATATATATATATA		SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	15/16						chr7	TogoVar
SEMA3D_chr7_84990553_85192056	85151483	TAGTTCTT others(14): Show TAGTTCTTAATCAGAACTAGGG	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0054 a0001c0001t0005g0054	1	266	0.0038	-21	c.-41 others(38): Show c.-41+2104_-41+2124delCCCTAGTTCTGATTAAGAACT		SEMA3D	ENSG00000153993.14	transcript	ENST00000284136.11	protein_coding	2/18						chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83460733	TGTGCCCC others(14): Show TGTGCCCCGGCCCCTTATCTCC	T T	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0084 a0001c0003t0001g0084	1	226	0.0044	-21	c.456 others(38): Show c.456+5728_456+5748delGGAGATAAGGGGCCGGGGCAC		SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	4/16						chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83503002	CTTTCTCT others(14): Show CTTTCTCTCTCTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02976.hp1 HG02055.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0070 a0001c0001t0037 a0001c0001t0070	a0001c0001t0037g0003 a0001c0001t0070g0073 a0001c0001t0037g0003 a0001c0001t0070g0073	2	226	0.0089	-21	c.116 others(40): Show c.116-12749_116-12729delAAAAAAAAAAAGAGAGAGAAA		SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	1/16						chr7	TogoVar
SEMA3F_chr3_50150324_50194075	50172633	TGTCCTGG others(14): Show TGTCCTGGCTCATTCAAGGTGG	T T	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0001 a0013c0015t0001	a0013c0015t0001g0114 a0013c0015t0001g0114	1	344	0.0029	-21	c.113 others(38): Show c.113-1159_113-1139delGTCCTGGCTCATTCAAGGTGG		SEMA3F	ENSG00000001617.12	transcript	ENST00000002829.8	protein_coding	2/18						chr3	TogoVar
SEMA4D_chr9_89372235_89503113	89485794	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02630.hp1 HG03130.hp2 others(1): Show HG02258.hp2 HG02630.hp1 HG03130.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 others(1): Show a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0278	4	370	0.0108	-21	c.-31 others(42): Show c.-310+12104_-310+12124delCTTTTTTTTTTTTTTTTTTTT		SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15						chr9	TogoVar
SEMA5A_chr5_9030033_9551075	9131638	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00673.hp1 HG00738.hp2 others(13): Show HG00642.hp1 HG00673.hp1 HG00738.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG02258.hp1 HG02280.hp1 HG02735.hp2 HG03209.hp1 HG03654.hp1 HG03669.hp2 HG04115.hp1 NA18961.hp2 NA18964.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007	a0001c0001t0001 a0001c0001t0013 a0001c0001t0015 others(11): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0015 a0001c0002t0001 a0001c0002t0002 a0001c0002t0050 a0001c0002t0060 a0001c0003t0001 a0001c0004t0001 a0001c0006t0001 a0001c0006t0007 a0001c0006t0021 a0001c0006t0058 a0001c0007t0034	a0001c0001t0001g0043 a0001c0001t0013g0036 a0001c0001t0013g0056 others(13): Show a0001c0001t0001g0043 a0001c0001t0013g0036 a0001c0001t0013g0056 a0001c0001t0015g0092 a0001c0001t0015g0093 a0001c0002t0001g0069 a0001c0002t0002g0099 a0001c0002t0050g0013 a0001c0002t0060g0085 a0001c0003t0001g0027 a0001c0004t0001g0039 a0001c0006t0001g0078 a0001c0006t0007g0088 a0001c0006t0021g0001 a0001c0006t0058g0083 a0001c0007t0034g0033	16	134	0.1194	-21	c.159 others(40): Show c.1599+4845_1599+4865delGTTTTTTTTTTTTTTTTTTTT		SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	13/22						chr5	TogoVar
SEMA6D_chr15_47712505_47779228	47737078	GGAAGGAA others(14): Show GGAAGGAAAAAGTAGGAGGTAA	G G	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0303 a0001c0001t0002g0303	1	388	0.0026	-21	c.-55 others(40): Show c.-55+19398_-55+19418delTAGGAGGTAAGAAGGAAAAAG		SEMA6D	ENSG00000137872.17	transcript	ENST00000536845.7	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr15	TogoVar
SENP3_chr17_7556919_7576969	7571897	ATATATAT others(14): Show ATATATATATATAAAAATATAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0098 a0001c0002t0098	a0001c0002t0098g0001 a0001c0002t0098g0001	1	446	0.0022	-21	c.41 others(30): Show c.415_*435delTATATATATATAAAAATATAT		SENP3	ENSG00000161956.14	transcript	ENST00000321337.12	protein_coding	11/11				415		chr17	TogoVar
SENP6_chr6_75596880_75723281	75638610	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0148 a0001c0001t0012g0148	1	362	0.0028	-21	c.459 others(38): Show c.459-2072_459-2052delATATATATATATTTTTTTTTT		SENP6	ENSG00000112701.18	transcript	ENST00000447266.7	protein_coding	5/23					INFO_REALIGN_3_PRIME	chr6	TogoVar
SENP6_chr6_75596880_75723281	75638612	ATATATAT others(14): Show ATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	362	0.0028	-21	c.459 others(38): Show c.459-2070_459-2050delATATATATATTTTTTTTTTTT		SENP6	ENSG00000112701.18	transcript	ENST00000447266.7	protein_coding	5/23					INFO_REALIGN_3_PRIME	chr6	TogoVar
SENP6_chr6_75596880_75723281	75638616	ATATATAT others(14): Show ATATATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0014 a0001c0002t0003g0014	1	362	0.0028	-21	c.459 others(38): Show c.459-2066_459-2046delATATATTTTTTTTTTTTTTTT		SENP6	ENSG00000112701.18	transcript	ENST00000447266.7	protein_coding	5/23					INFO_REALIGN_3_PRIME	chr6	TogoVar
SENP7_chr3_101319205_101518212	101440437	AAGGCCGC others(14): Show AAGGCCGCAGGGTCCTCTGCCT	A A	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0321 a0001c0001t0001g0321	1	370	0.0027	-21	c.284 others(40): Show c.284+18497_284+18517delAGGCAGAGGACCCTGCGGCCT		SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23						chr3	TogoVar
SENP7_chr3_101319205_101518212	101499906	TGATCCGC others(14): Show TGATCCGCCCGCCTCAGCACAA	T T	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	370	0.0027	-21	c.90+ others(36): Show c.90+1143_90+1163delTTGTGCTGAGGCGGGCGGATC		SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	2/23						chr3	TogoVar
SENP7_chr3_101319205_101518212	101513213	GAAAAAAA others(14): Show GAAAAAAAAAAAAAAAAAAAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0168 a0001c0003t0002g0168	1	370	0.0027	-21	c.-10 others(29): Show c.-104_-84delTTTTTTTTTTTTTTTTTTTTT		SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding					2		chr3	TogoVar
SENP8_chr15_72113403_72148692	72131635	AATATTAG others(14): Show AATATTAGCTTCATTTAATTAC	A A	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	400	0.0025	-21	c.-47 others(38): Show c.-47-7940_-47-7920delTATTAGCTTCATTTAATTACA		SENP8	ENSG00000166192.15	transcript	ENST00000340912.6	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr15	TogoVar
SEPTIN7_chr7_35796057_35912110	35838327	TCCCTCCC others(14): Show TCCCTCCCTCCCTCCCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA19043.hp2 HG03486.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0024 a0001c0001t0004 a0001c0001t0024	a0001c0001t0004g0172 a0001c0001t0024g0177 a0001c0001t0004g0172 a0001c0001t0024g0177	2	346	0.0058	-21	c.169 others(38): Show c.169+5430_169+5450delCTCCCTCCCTCCCTCCCTCCC		SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr7	TogoVar
SEPTIN9_chr17_77276499_77505593	77484727	ATTGTGAT others(14): Show ATTGTGATGGTGGTGGTGGTGG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01884.hp1 HG01884.hp2 others(11): Show HG01099.hp1 HG01884.hp1 HG01884.hp2 HG02257.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp2 HG02717.hp2 HG02886.hp1 HG02922.hp2 HG03098.hp1 HG03579.hp1 NA18522.hp1 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 others(9): Show a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0028 a0001c0001t0035 a0001c0001t0049 a0001c0001t0052 a0002c0002t0004 a0002c0002t0010 a0002c0002t0016 a0002c0002t0041 a0002c0002t0050	a0001c0001t0007g0039 a0001c0001t0008g0020 a0001c0001t0010g0135 others(11): Show a0001c0001t0007g0039 a0001c0001t0008g0020 a0001c0001t0010g0135 a0001c0001t0028g0134 a0001c0001t0035g0132 a0001c0001t0049g0035 a0001c0001t0052g0013 a0002c0002t0004g0036 a0002c0002t0004g0145 a0002c0002t0010g0030 a0002c0002t0010g0136 a0002c0002t0016g0120 a0002c0002t0041g0041 a0002c0002t0050g0147	14	150	0.0933	-21	c.913 others(38): Show c.913+2407_913+2427delGTGGTGGTTGTGATGGTGGTG		SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77484727	ATTGTGAT others(14): Show ATTGTGATGGTGGTGGTGGTGG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01884.hp1 HG01884.hp2 others(13): Show HG01099.hp1 HG01884.hp1 HG01884.hp2 HG02257.hp1 HG02559.hp1 HG02572.hp2 HG02717.hp2 HG02886.hp1 HG02922.hp2 HG03098.hp2 HG03139.hp1 HG03579.hp2 HG04115.hp1 NA18522.hp1 NA18906.hp1 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0034 others(10): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0034 a0001c0001t0038 a0001c0001t0046 a0001c0001t0052 a0001c0001t0053 a0001c0004t0015 a0001c0004t0041 a0002c0002t0003 a0002c0002t0012 a0002c0002t0013 a0002c0002t0036	a0001c0001t0002g0011 a0001c0001t0003g0138 a0001c0001t0034g0137 others(13): Show a0001c0001t0002g0011 a0001c0001t0003g0138 a0001c0001t0034g0137 a0001c0001t0038g0106 a0001c0001t0046g0054 a0001c0001t0052g0035 a0001c0001t0053g0074 a0001c0004t0015g0114 a0001c0004t0041g0003 a0002c0002t0003g0008 a0002c0002t0003g0026 a0002c0002t0003g0134 a0002c0002t0003g0139 a0002c0002t0012g0140 a0002c0002t0013g0099 a0002c0002t0036g0133	16	158	0.1013	-21	c.859 others(38): Show c.859+2407_859+2427delGTGGTGGTTGTGATGGTGGTG		SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr17	TogoVar
SERAC1_chr6_158104519_158173262	158169529	AGTATATT others(14): Show AGTATATTATATATAATATACT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0074 a0001c0001t0012g0074	1	366	0.0027	-21	c.-14 others(32): Show c.-1412_-1392delAGTATATTATATATAATATAC		SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding					1268		chr6	TogoVar
SERHL2_chr22_42548956_42579382	42578214	TGCTATAG others(14): Show TGCTATAGAGTGATCTCGGCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0267 a0002c0002t0001g0267	1	432	0.0023	-21	c.41 others(32): Show c.4160_*4180delGCTATAGAGTGATCTCGGCTC		SERHL2	ENSG00000183569.18	transcript	ENST00000327678.10	protein_coding					3833		chr22	TogoVar
SERPINA11_chr14_94437464_94457800	94449390	CTCTTTCT others(14): Show CTCTTTCTTTCTTTCTATTCTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00558.hp1 others(23): Show HG00140.hp1 HG00140.hp2 HG00558.hp1 HG00642.hp1 HG00738.hp1 HG01069.hp1 HG01109.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01496.hp1 HG02145.hp1 HG02647.hp1 HG02698.hp1 HG03453.hp1 HG03704.hp1 HG03704.hp2 HG04115.hp1 NA18747.hp2 NA18946.hp2 NA18950.hp2 NA18956.hp1 NA18969.hp2 NA18999.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0166 a0001c0001t0001g0190 a0001c0001t0001g0216 others(14): Show a0001c0001t0001g0166 a0001c0001t0001g0190 a0001c0001t0001g0216 a0001c0001t0001g0239 a0002c0002t0001g0007 a0002c0002t0001g0018 a0002c0002t0001g0029 a0002c0002t0001g0035 a0002c0002t0001g0075 a0002c0002t0001g0077 a0002c0002t0001g0079 a0002c0002t0001g0085 a0002c0002t0001g0098 a0002c0002t0001g0112 a0002c0002t0001g0126 a0002c0002t0001g0142 a0002c0002t0001g0160	26	452	0.0575	-21	c.-3- others(34): Show c.-3-634_-3-614delAAGAATAGAAAGAAAGAAAGA		SERPINA11	ENSG00000186910.4	transcript	ENST00000334708.4	protein_coding	1/4						chr14	TogoVar
SERPINB10_chr18_63902958_63941111	63940544	AGGGTGGG others(14): Show AGGGTGGGGCATCACCTCACCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02970.hp1 HG03130.hp1 others(4): Show HG02965.hp1 HG02970.hp1 HG03130.hp1 HG03195.hp1 HG03225.hp1 HG03579.hp1 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0006 a0002c0002t0002g0006	7	388	0.0180	-21	c.53 others(32): Show c.5303_*5323delGGGTGGGGCATCACCTCACCC		SERPINB10	ENSG00000242550.7	transcript	ENST00000238508.8	protein_coding					4434		chr18	TogoVar
SERPINB5_chr18_63471958_63510085	63473286	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	410	0.0024	-21	c.-37 others(32): Show c.-3766_-3746delAAAAAAAAAAAAAAAAAAAAA		SERPINB5	ENSG00000206075.14	transcript	ENST00000382771.9	protein_coding					3671		chr18	TogoVar
SERPINB7_chr18_63770418_63810370	63783230	GAGAGAAA others(14): Show GAGAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0335 a0001c0001t0001g0335	1	432	0.0023	-21	c.168 others(36): Show c.168+692_168+712delGAGAAAGAAAGAAAGAAAGAA		SERPINB7	ENSG00000166396.13	transcript	ENST00000398019.7	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPINE1_chr7_101122104_101144247	101140279	AGAAAGAA others(14): Show AGAAAGAAAGAAAGAAAGAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0002 a0005c0009t0002	a0005c0009t0002g0012 a0005c0009t0002g0012	1	436	0.0023	-21	c.28 others(32): Show c.2838_*2858delGAAAGAAAGAAAGAAAGAAAG		SERPINE1	ENSG00000106366.9	transcript	ENST00000223095.5	protein_coding					1033		chr7	TogoVar
SERPINE2_chr2_223970045_224044286	224044121	CTCTTTCT others(14): Show CTCTTTCTTTTCTTTCTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp2 HG02145.hp1 HG02257.hp2 others(8): Show HG01993.hp2 HG02145.hp1 HG02257.hp2 HG02559.hp2 HG02717.hp1 HG02738.hp2 HG03239.hp1 HG04184.hp1 NA18990.hp2 NA19007.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0004t0001 a0001c0006t0001	a0001c0001t0001g0059 a0001c0001t0001g0183 a0001c0001t0002g0353 others(8): Show a0001c0001t0001g0059 a0001c0001t0001g0183 a0001c0001t0002g0353 a0001c0002t0001g0033 a0001c0002t0001g0083 a0001c0002t0001g0119 a0001c0002t0001g0129 a0001c0002t0001g0167 a0001c0002t0001g0195 a0001c0004t0001g0130 a0001c0006t0001g0001	11	374	0.0294	-21	c.-50 others(32): Show c.-5066_-5046delAAGAAAGAAAGAAAAGAAAGA		SERPINE2	ENSG00000135919.14	transcript	ENST00000409304.6	protein_coding					4836		chr2	TogoVar
SERTAD1_chr19_40416589_40430992	40418216	TTTTCTTT others(14): Show TTTTCTTTCTTCCTTTCTTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02258.hp1 HG02559.hp1 others(3): Show HG02109.hp1 HG02258.hp1 HG02559.hp1 HG02630.hp1 HG03041.hp2 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0017 a0001c0003t0024 others(1): Show a0001c0003t0012 a0001c0003t0017 a0001c0003t0024 a0001c0003t0026	a0001c0003t0012g0018 a0001c0003t0012g0040 a0001c0003t0017g0042 others(2): Show a0001c0003t0012g0018 a0001c0003t0012g0040 a0001c0003t0017g0042 a0001c0003t0024g0043 a0001c0003t0026g0044	6	368	0.0163	-21	c.45 others(32): Show c.4599_*4619delGAAAAGAAAGGAAGAAAGAAA		SERTAD1	ENSG00000197019.5	transcript	ENST00000357949.5	protein_coding					3372		chr19	TogoVar
SETBP1_chr18_44675888_45073510	44703348	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01167.hp1 HG01934.hp1 others(17): Show HG00639.hp2 HG01167.hp1 HG01934.hp1 HG01981.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02886.hp1 HG03195.hp1 HG03453.hp1 HG03471.hp1 HG03516.hp1 HG03579.hp1 HG04199.hp1 NA18981.hp1 NA19030.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0001 a0001c0005 a0001c0009 others(3): Show a0001c0001 a0001c0005 a0001c0009 a0002c0002 a0003c0003 a0010c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0024 a0001c0005t0002 a0001c0005t0020 a0001c0009t0002 a0002c0002t0004 a0002c0002t0005 a0003c0003t0001 a0003c0003t0002 a0003c0003t0016 a0010c0014t0001	a0001c0001t0001g0096 a0001c0001t0001g0105 a0001c0001t0001g0120 others(17): Show a0001c0001t0001g0096 a0001c0001t0001g0105 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0134 a0001c0001t0001g0140 a0001c0001t0002g0102 a0001c0001t0002g0125 a0001c0001t0003g0100 a0001c0001t0024g0108 a0001c0005t0002g0115 a0001c0005t0020g0072 a0001c0009t0002g0106 a0001c0009t0002g0133 a0002c0002t0004g0095 a0002c0002t0005g0107 a0003c0003t0001g0109 a0003c0003t0002g0116 a0003c0003t0016g0110 a0010c0014t0001g0104	20	140	0.1429	-21	c.486 others(38): Show c.486+1542_486+1562delTTTTTTTTTTTTTTTTTTTTT		SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr18	TogoVar
SETD1B_chr12_121799009_121837656	121835007	CTTTCTTT others(14): Show CTTTCTTTCTTTCTTTCTTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01168.hp2 HG01169.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0003 a0001c0013t0003	a0001c0013t0003g0028 a0001c0013t0003g0028	2	262	0.0076	-21	c.47 others(32): Show c.4769_*4789delTTTCTTTCTTTCTTTCTTTCT		SETD1B	ENSG00000139718.12	transcript	ENST00000604567.6	protein_coding					2352		chr12	TogoVar
SETD2_chr3_47011436_47169113	47029699	TGATTTGG others(14): Show TGATTTGGGGGTATTTGCTTAA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0120 a0005c0007t0001g0121 a0005c0007t0001g0120 a0005c0007t0001g0121	2	308	0.0065	-21	c.735 others(40): Show c.7350+7946_7350+7966delTTAAGCAAATACCCCCAAATC		SETD2	ENSG00000181555.22	transcript	ENST00000409792.4	protein_coding	18/20						chr3	TogoVar
SETD2_chr3_47011436_47169113	47044344	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp2 HG02735.hp1 HG02258.hp1 HG02258.hp2 HG02735.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0002 a0002c0001 a0007c0009 a0001c0002 a0002c0001 a0007c0009	a0001c0002t0003 a0002c0001t0001 a0007c0009t0003 a0001c0002t0003 a0002c0001t0001 a0007c0009t0003	a0001c0002t0003g0111 a0002c0001t0001g0172 a0007c0009t0003g0100 a0001c0002t0003g0111 a0002c0001t0001g0172 a0007c0009t0003g0100	3	308	0.0097	-21	c.709 others(40): Show c.7099-1665_7099-1645delTTTTTTTTTTTTTTTTTTTTT		SETD2	ENSG00000181555.22	transcript	ENST00000409792.4	protein_coding	16/20						chr3	TogoVar
SETD4_chr21_36029541_36065526	36032370	GGGACACT others(14): Show GGGACACTGGTGTGTTGTGTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01975.hp2 HG02886.hp1 others(1): Show HG00735.hp1 HG01975.hp2 HG02886.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 others(1): Show a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113	4	398	0.0101	-21	c.36 others(32): Show c.3602_*3622delTCACACAACACACCAGTGTCC		SETD4	ENSG00000185917.14	transcript	ENST00000332131.9	protein_coding					2170		chr21	TogoVar
SETDB1_chr1_150921363_150969737	150945369	TTGTGTGT others(14): Show TTGTGTGTAGGTACAGAAAGGG	T T	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0011 a0011	a0011c0022 a0011c0022	a0011c0022t0001 a0011c0022t0001	a0011c0022t0001g0074 a0011c0022t0001g0074	1	352	0.0028	-21	c.114 others(38): Show c.1140+262_1140+282delTGTGTGTAGGTACAGAAAGGG		SETDB1	ENSG00000143379.13	transcript	ENST00000692827.1	protein_coding	9/21						chr1	TogoVar
SETDB2_chr13_49439274_49500003	49496005	GCCCAGGC others(14): Show GCCCAGGCGTCGCCGCCCCGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02145.hp2 HG03041.hp2 others(2): Show HG02109.hp2 HG02145.hp2 HG03041.hp2 NA19030.hp2 NA21309.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0031 a0003c0004t0005 a0003c0004t0031	a0003c0004t0005g0203 a0003c0004t0005g0207 a0003c0004t0005g0222 others(2): Show a0003c0004t0005g0203 a0003c0004t0005g0207 a0003c0004t0005g0222 a0003c0004t0005g0223 a0003c0004t0031g0221	5	406	0.0123	-21	c.41 others(32): Show c.4157_*4177delCCCAGGCGTCGCCGCCCCGGC		SETDB2	ENSG00000136169.17	transcript	ENST00000611815.2	protein_coding					1003		chr13	TogoVar
SEZ6L_chr22_26164462_26388596	26356642	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02818.hp2 HG01099.hp2 HG02818.hp2	a0001 a0001	a0001c0003 a0001c0026 a0001c0003 a0001c0026	a0001c0003t0001 a0001c0026t0021 a0001c0003t0001 a0001c0026t0021	a0001c0003t0001g0103 a0001c0026t0021g0115 a0001c0003t0001g0103 a0001c0026t0021g0115	2	240	0.0083	-21	c.259 others(40): Show c.2599+5430_2599+5450delAATAATAATAATAATAATAAT		SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	12/16					INFO_REALIGN_3_PRIME	chr22	TogoVar
SF3A2_chr19_2231824_2253655	2248057	TCCCCCAG others(14): Show TCCCCCAGCTCCTGGCGTCCAC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00738.hp1 HG01069.hp2 HG01346.hp1 others(7): Show HG00738.hp1 HG01069.hp2 HG01346.hp1 HG01934.hp1 HG01975.hp1 HG01978.hp1 HG01993.hp2 HG02293.hp2 HG02738.hp2 HG03139.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0002 a0003c0004t0001g0010 a0003c0004t0001g0013 others(3): Show a0003c0004t0001g0002 a0003c0004t0001g0010 a0003c0004t0001g0013 a0003c0004t0001g0062 a0003c0004t0001g0103 a0003c0004t0001g0187	10	420	0.0238	-21	c.927 others(28): Show c.927_947delCCCCCCAGCTCCTGGCGTCCA	p.Pro others(13): Show p.Pro310_His316del	SF3A2	ENSG00000104897.10	transcript	ENST00000221494.10	protein_coding	9/9	1042/1619	927/1395	309/464		INFO_REALIGN_3_PRIME	chr19	TogoVar
SF3A2_chr19_2231824_2253655	2248165	TCCAGCCC others(14): Show TCCAGCCCCCGGGGTTCACCCA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18943.hp1 NA18943.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0009 a0008c0010t0001g0009	1	420	0.0024	-21	c.102 others(30): Show c.1026_1046delGGTTCACCCACCAGCCCCCGG	p.Val others(13): Show p.Val343_Gly349del	SF3A2	ENSG00000104897.10	transcript	ENST00000221494.10	protein_coding	9/9	1141/1619	1026/1395	342/464		INFO_REALIGN_3_PRIME	chr19	TogoVar
SFI1_chr22_31491536_31623588	31510399	TTACTTGT others(14): Show TTACTTGTTAGAGATCTATTAG	T T	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0307 a0002c0001t0001g0307	1	322	0.0031	-21	c.92+ others(36): Show c.92+2024_92+2044delTACTTGTTAGAGATCTATTAG		SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	2/32						chr22	TogoVar
SFI1_chr22_31491536_31623588	31568173	GTGTGTGT others(14): Show GTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG02258.hp2 others(1): Show HG01516.hp2 HG01517.hp1 HG02258.hp2 NA21309.hp1	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0001 a0010c0010t0001	a0010c0010t0001g0004 a0010c0010t0001g0005 a0010c0010t0001g0006 others(1): Show a0010c0010t0001g0004 a0010c0010t0001g0005 a0010c0010t0001g0006 a0010c0010t0001g0007	4	322	0.0124	-21	c.766 others(38): Show c.766-4867_766-4847delGTGTTGTGTGTGTGTGTGTGT		SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	8/32					INFO_REALIGN_3_PRIME	chr22	TogoVar
SFMBT2_chr10_7153624_7416034	7393013	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02717.hp1 HG02809.hp2 others(4): Show HG02258.hp2 HG02717.hp1 HG02809.hp2 HG02886.hp2 HG03130.hp2 HG03139.hp2 HG03942.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0019 a0003c0004t0007	a0001c0001t0002g0112 a0001c0001t0004g0024 a0001c0001t0005g0012 others(4): Show a0001c0001t0002g0112 a0001c0001t0004g0024 a0001c0001t0005g0012 a0001c0001t0011g0118 a0001c0001t0011g0119 a0001c0001t0019g0074 a0003c0004t0007g0025	7	144	0.0486	-21	c.-51 others(40): Show c.-51-11085_-51-11065delATATATATATATATATATATA		SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	1/20						chr10	TogoVar
SFMBT2_chr10_7153624_7416034	7393014	TATATATA others(14): Show TATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	144	0.0069	-21	c.-51 others(40): Show c.-51-11086_-51-11066delTATATATATATATATATATAT		SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	1/20						chr10	TogoVar
SFRP1_chr8_41256962_41314473	41284375	GGCCCCCT others(14): Show GGCCCCCTCCCACATTGTCTGA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(210): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00423.hp1 HG00609.hp2 HG00733.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01515.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18940.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp2 NA18949.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp2 NA18963.hp1 NA18964.hp2 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18972.hp2 NA18973.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18981.hp1 NA18983.hp1 NA18985.hp2 NA18986.hp2 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18993.hp1 NA18998.hp2 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19057.hp2 NA19060.hp2 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19087.hp1 NA19091.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0002c0002 a0002c0008 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(44): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0026 a0001c0001t0028 a0001c0001t0030 a0001c0001t0035 a0001c0001t0037 a0001c0001t0039 a0001c0001t0040 a0001c0001t0043 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0049 a0001c0003t0002 a0001c0004t0042 a0001c0005t0031 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0008 a0002c0002t0011 a0002c0002t0013 a0002c0002t0024 a0002c0002t0032 a0002c0002t0034 a0002c0002t0038 a0002c0002t0044 a0002c0008t0012 a0003c0007t0004	a0001c0001t0001g0026 a0001c0001t0001g0066 a0001c0001t0001g0095 others(207): Show a0001c0001t0001g0026 a0001c0001t0001g0066 a0001c0001t0001g0095 a0001c0001t0001g0194 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0235 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0057 a0001c0001t0002g0065 a0001c0001t0002g0068 a0001c0001t0002g0071 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0118 a0001c0001t0002g0125 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0134 a0001c0001t0002g0138 a0001c0001t0002g0174 a0001c0001t0002g0179 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0210 a0001c0001t0002g0212 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0232 a0001c0001t0002g0239 a0001c0001t0002g0244 a0001c0001t0003g0015 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0030 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0054 a0001c0001t0003g0078 a0001c0001t0003g0091 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0097 a0001c0001t0003g0100 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0156 a0001c0001t0003g0173 a0001c0001t0003g0176 a0001c0001t0003g0185 a0001c0001t0003g0188 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0195 a0001c0001t0003g0203 a0001c0001t0003g0211 a0001c0001t0003g0241 a0001c0001t0003g0248 a0001c0001t0004g0017 a0001c0001t0004g0029 a0001c0001t0004g0040 a0001c0001t0004g0041 a0001c0001t0004g0053 a0001c0001t0004g0055 a0001c0001t0004g0115 a0001c0001t0004g0131 a0001c0001t0004g0133 a0001c0001t0004g0139 a0001c0001t0004g0142 a0001c0001t0004g0201 a0001c0001t0004g0215 a0001c0001t0004g0217 a0001c0001t0004g0240 a0001c0001t0004g0246 a0001c0001t0005g0013 a0001c0001t0005g0080 a0001c0001t0005g0081 a0001c0001t0005g0140 a0001c0001t0005g0141 a0001c0001t0005g0143 a0001c0001t0005g0144 a0001c0001t0005g0221 a0001c0001t0005g0254 a0001c0001t0007g0098 a0001c0001t0007g0222 a0001c0001t0008g0003 a0001c0001t0008g0025 a0001c0001t0008g0027 a0001c0001t0008g0216 a0001c0001t0008g0236 a0001c0001t0009g0002 a0001c0001t0009g0122 a0001c0001t0009g0123 a0001c0001t0009g0126 a0001c0001t0010g0223 a0001c0001t0010g0224 a0001c0001t0010g0251 a0001c0001t0010g0255 a0001c0001t0011g0018 a0001c0001t0011g0145 a0001c0001t0011g0153 a0001c0001t0012g0046 a0001c0001t0012g0219 a0001c0001t0013g0012 a0001c0001t0013g0079 a0001c0001t0014g0159 a0001c0001t0014g0163 a0001c0001t0014g0220 a0001c0001t0017g0009 a0001c0001t0017g0010 a0001c0001t0018g0213 a0001c0001t0018g0214 a0001c0001t0020g0014 a0001c0001t0020g0253 a0001c0001t0022g0189 a0001c0001t0022g0190 a0001c0001t0023g0083 a0001c0001t0023g0084 a0001c0001t0026g0021 a0001c0001t0026g0238 a0001c0001t0028g0008 a0001c0001t0030g0250 a0001c0001t0035g0114 a0001c0001t0037g0237 a0001c0001t0039g0249 a0001c0001t0040g0119 a0001c0001t0043g0225 a0001c0001t0045g0075 a0001c0001t0046g0252 a0001c0001t0047g0089 a0001c0001t0049g0247 a0001c0003t0002g0258 a0001c0003t0002g0259 a0001c0003t0002g0260 a0001c0004t0042g0011 a0001c0005t0031g0207 a0002c0002t0001g0298 a0002c0002t0001g0344 a0002c0002t0002g0006 a0002c0002t0002g0275 a0002c0002t0002g0285 a0002c0002t0002g0288 a0002c0002t0002g0289 a0002c0002t0002g0293 a0002c0002t0002g0294 a0002c0002t0002g0302 a0002c0002t0002g0303 a0002c0002t0002g0316 a0002c0002t0002g0318 a0002c0002t0002g0323 a0002c0002t0002g0324 a0002c0002t0002g0327 a0002c0002t0002g0330 a0002c0002t0002g0341 a0002c0002t0002g0343 a0002c0002t0002g0349 a0002c0002t0002g0350 a0002c0002t0002g0352 a0002c0002t0002g0356 a0002c0002t0002g0358 a0002c0002t0002g0371 a0002c0002t0002g0376 a0002c0002t0003g0272 a0002c0002t0003g0282 a0002c0002t0003g0283 a0002c0002t0003g0286 a0002c0002t0003g0287 a0002c0002t0003g0300 a0002c0002t0003g0301 a0002c0002t0003g0305 a0002c0002t0003g0321 a0002c0002t0003g0328 a0002c0002t0003g0333 a0002c0002t0003g0361 a0002c0002t0004g0264 a0002c0002t0004g0265 a0002c0002t0004g0273 a0002c0002t0004g0276 a0002c0002t0004g0304 a0002c0002t0004g0336 a0002c0002t0004g0338 a0002c0002t0004g0339 a0002c0002t0004g0362 a0002c0002t0008g0295 a0002c0002t0008g0296 a0002c0002t0011g0335 a0002c0002t0013g0311 a0002c0002t0024g0345 a0002c0002t0024g0347 a0002c0002t0032g0340 a0002c0002t0034g0373 a0002c0002t0038g0306 a0002c0002t0044g0290 a0002c0008t0012g0313 a0003c0007t0004g0262	213	384	0.5547	-21	c.623 others(40): Show c.623-18907_623-18887delTCAGACAATGTGGGAGGGGGC		SFRP1	ENSG00000104332.12	transcript	ENST00000220772.8	protein_coding	2/2						chr8	TogoVar
SFRP1_chr8_41256962_41314473	41288530	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02280.hp2 HG02602.hp2 others(1): Show HG02257.hp1 HG02280.hp2 HG02602.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0039	a0001c0001t0001g0206 a0001c0001t0003g0117 a0001c0001t0007g0020 others(1): Show a0001c0001t0001g0206 a0001c0001t0003g0117 a0001c0001t0007g0020 a0001c0001t0039g0249	4	384	0.0104	-21	c.622 others(40): Show c.622+14910_622+14930delTTTTTTTTTTTTTTTTTTTTT		SFRP1	ENSG00000104332.12	transcript	ENST00000220772.8	protein_coding	2/2						chr8	TogoVar
SFRP1_chr8_41256962_41314473	41290886	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG03209.hp1 others(3): Show HG02896.hp1 HG02897.hp2 HG03209.hp1 HG03225.hp1 HG03486.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0013 a0001c0001t0003 a0001c0001t0013	a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0110 others(3): Show a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0185 a0001c0001t0013g0079	6	384	0.0156	-21	c.622 others(40): Show c.622+12554_622+12574delAAAAAAAAAAAAAAAAAAAAA		SFRP1	ENSG00000104332.12	transcript	ENST00000220772.8	protein_coding	2/2						chr8	TogoVar
SFXN1_chr5_175473560_175534742	175524118	AAAAAAAA others(14): Show AAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0341 a0001c0001t0003g0341	1	372	0.0027	-21	c.872 others(38): Show c.872+1698_872+1718delAAAAAAATATATATATATATA		SFXN1	ENSG00000164466.13	transcript	ENST00000321442.10	protein_coding	10/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
SFXN1_chr5_175473560_175534742	175524120	AAAAAAAT others(14): Show AAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0073 a0001c0001t0016g0073	1	372	0.0027	-21	c.872 others(38): Show c.872+1700_872+1720delAAAAATATATATATATATATA		SFXN1	ENSG00000164466.13	transcript	ENST00000321442.10	protein_coding	10/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
SFXN1_chr5_175473560_175534742	175524122	AAAAATAT others(14): Show AAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02647.hp1 HG02717.hp1 others(9): Show HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02818.hp2 HG02896.hp2 HG02965.hp2 HG03453.hp2 HG03927.hp1 HG04204.hp2 NA20805.hp2 NA20905.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0016 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0016 a0001c0001t0046 a0001c0001t0053 a0001c0001t0054 a0004c0006t0003	a0001c0001t0001g0021 a0001c0001t0001g0055 a0001c0001t0001g0147 others(9): Show a0001c0001t0001g0021 a0001c0001t0001g0055 a0001c0001t0001g0147 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0003g0182 a0001c0001t0016g0072 a0001c0001t0046g0082 a0001c0001t0053g0083 a0001c0001t0054g0081 a0004c0006t0003g0079	12	372	0.0323	-21	c.872 others(38): Show c.872+1702_872+1722delAAATATATATATATATATATA		SFXN1	ENSG00000164466.13	transcript	ENST00000321442.10	protein_coding	10/10					INFO_REALIGN_3_PRIME	chr5	TogoVar

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