Joint Open Genome and Omics Platform (JoGo)

Search Results

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	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
RIT2_chr18_42738227_43120685	42991599	AAAAGAAA others(44): Show AAAAGAAATGAAAATGGCCTGTTCCTGCCTTAACTGATGACATTCCACCA CG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02132.hp2 HG02135.hp1 others(3): Show HG00741.hp2 HG02132.hp2 HG02135.hp1 HG03017.hp1 HG04199.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002	a0001c0001t0002g0228 a0001c0002t0001g0061 a0001c0002t0001g0123 others(3): Show a0001c0001t0002g0228 a0001c0002t0001g0061 a0001c0002t0001g0123 a0001c0002t0001g0208 a0001c0002t0002g0225 a0001c0002t0002g0229	6	240	0.0250	-51	c.161 others(70): Show c.161-17503_161-17453delCGTGGTGGAATGTCATCAGTTAAGGC AGGAACAGGCCATTTTCATTTCTTT		RIT2	ENSG00000152214.14	transcript	ENST00000326695.10	protein_coding	2/4						chr18	TogoVar
RNF150_chr4_140854807_141138469	140999940	AAAAAGAA others(44): Show AAAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAAAGAAGAAAAGA AG	A A	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0160 a0001c0001t0066g0160	1	184	0.0054	-51	c.485 others(70): Show c.485-32118_485-32068delCTTCTTTTCTTCTTTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTTT		RNF150	ENSG00000170153.11	transcript	ENST00000515673.7	protein_coding	1/6						chr4	TogoVar
RNF150_chr4_140854807_141138469	140999993	AAAGAAGA others(44): Show AAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0140 a0001c0001t0016g0140	1	184	0.0054	-51	c.485 others(70): Show c.485-32171_485-32121delCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTT		RNF150	ENSG00000170153.11	transcript	ENST00000515673.7	protein_coding	1/6						chr4	TogoVar
RNF150_chr4_140854807_141138469	141000036	AAGAAGAA others(44): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03834.hp2 NA19030.hp1 others(1): Show HG02145.hp1 HG03834.hp2 NA19030.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0023 a0001c0001t0002 a0001c0001t0014 a0001c0001t0023	a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0014g0151 others(1): Show a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0014g0151 a0001c0001t0023g0009	4	184	0.0217	-51	c.485 others(70): Show c.485-32214_485-32164delCCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCT		RNF150	ENSG00000170153.11	transcript	ENST00000515673.7	protein_coding	1/6						chr4	TogoVar
RNF208_chr9_137215259_137227240	137217032	TTCCTCTA others(44): Show TTCCTCTAGCTCCTCCCGGTGCCCTGGGTGCTGGGTGCTGGATGGATGGG CG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01361.hp2 others(13): Show HG01167.hp1 HG01169.hp2 HG01361.hp2 HG01928.hp1 HG02004.hp2 HG02148.hp1 HG02148.hp2 HG02300.hp1 HG04199.hp1 NA18946.hp2 NA18964.hp2 NA18969.hp1 NA18972.hp2 NA18973.hp1 NA18977.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	16	390	0.0410	-51	c.33 others(62): Show c.3344_*3394delCGCCCATCCATCCAGCACCCAGCACCCAGGGCAC CGGGAGGAGCTAGAGGA		RNF208	ENSG00000212864.4	transcript	ENST00000391553.3	protein_coding					3226		chr9	TogoVar
RNF208_chr9_137215259_137227240	137217077	ATGGGCGT others(44): Show ATGGGCGTCCTCTAGCTCCTCCCGGTGCCCTGGGTGCTGGGTGCTGGATG GG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01515.hp2 others(11): Show HG01070.hp1 HG01071.hp2 HG01515.hp2 HG01884.hp1 HG02293.hp2 HG02647.hp1 HG02922.hp1 HG02965.hp2 HG03130.hp1 HG03130.hp2 HG03490.hp2 HG03492.hp1 NA18906.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0002t0001g0003 a0001c0001t0001g0001 a0001c0002t0001g0003	14	390	0.0359	-51	c.32 others(62): Show c.3299_*3349delCCCATCCAGCACCCAGCACCCAGGGCACCGGGAG GAGCTAGAGGACGCCCA		RNF208	ENSG00000212864.4	transcript	ENST00000391553.3	protein_coding					3181		chr9	TogoVar
RNF213_chr17_80255852_80403794	80314292	ATGGTGGT others(44): Show ATGGTGGTGGACGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGT GG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00673.hp2 HG02040.hp2 others(5): Show HG00438.hp1 HG00673.hp2 HG02040.hp2 HG02083.hp2 HG02132.hp1 HG03490.hp2 NA18947.hp1 NA19010.hp2	a0002 a0005 a0024 others(3): Show a0002 a0005 a0024 a0061 a0067 a0077	a0002c0002 a0002c0010 a0005c0007 others(4): Show a0002c0002 a0002c0010 a0005c0007 a0024c0026 a0061c0122 a0067c0056 a0077c0081	a0002c0002t0003 a0002c0010t0004 a0002c0010t0010 others(5): Show a0002c0002t0003 a0002c0010t0004 a0002c0010t0010 a0005c0007t0003 a0024c0026t0007 a0061c0122t0004 a0067c0056t0003 a0077c0081t0002	a0002c0002t0003g0111 a0002c0010t0004g0077 a0002c0010t0010g0212 others(5): Show a0002c0002t0003g0111 a0002c0010t0004g0077 a0002c0010t0010g0212 a0005c0007t0003g0209 a0024c0026t0007g0191 a0061c0122t0004g0075 a0067c0056t0003g0152 a0077c0081t0002g0269	8	292	0.0274	-51	c.281 others(70): Show c.2811+1132_2811+1182delTGGACGTGATGGTGGAGGTAATGGAG GTGATGGTGGTGGTGGTGGTGGTGG		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314442	GAGGTAAT others(44): Show GAGGTAATGGAGGTGATGGTGGTGATGGTGATGGTGGAGGTACTGGAGGT GA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0013 a0013	a0013c0012 a0013c0012	a0013c0012t0049 a0013c0012t0049	a0013c0012t0049g0217 a0013c0012t0049g0217	1	292	0.0034	-51	c.281 others(70): Show c.2811+1276_2811+1326delAGGTAATGGAGGTGATGGTGGTGATG GTGATGGTGGAGGTACTGGAGGTGA		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67						chr17	TogoVar
RNF213_chr17_80255852_80403794	80314697	GAGGTACT others(44): Show GAGGTACTGGAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGATGGT GA	G G	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0073 a0002c0002t0005g0073	1	292	0.0034	-51	c.281 others(70): Show c.2811+1531_2811+1581delAGGTACTGGAGGTGATGGTGGAGGTA ATGGAGGTGATGGTGGTGATGGTGA		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67						chr17	TogoVar
RNF213_chr17_80255852_80403794	80314718	GAGGTAAT others(44): Show GAGGTAATGGAGGTGATGGTGGTGATGGTGATGGTGGAGGTACTGGAGGT GA	G G	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0161 a0001c0006t0005g0161	1	292	0.0034	-51	c.281 others(70): Show c.2811+1552_2811+1602delAGGTAATGGAGGTGATGGTGGTGATG GTGATGGTGGAGGTACTGGAGGTGA		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67						chr17	TogoVar
RNF213_chr17_80255852_80403794	80315134	GGTGATGG others(44): Show GGTGATGGTGGTAAAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGG AC	G G	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02056.hp2 HG01361.hp1 HG02056.hp2	a0001 a0013 a0001 a0013	a0001c0006 a0013c0012 a0001c0006 a0013c0012	a0001c0006t0005 a0013c0012t0056 a0001c0006t0005 a0013c0012t0056	a0001c0006t0005g0161 a0013c0012t0056g0192 a0001c0006t0005g0161 a0013c0012t0056g0192	2	292	0.0069	-51	c.281 others(70): Show c.2811+1978_2812-1993delTAAAGGTGATGGTGGAGGTAATGGAG GTGATGGTGGTGGACGTGATGGTGG		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80315710	AAGTGATG others(44): Show AAGTGATGGTGGAGGTACTGGAGGTGATGGTGGTGGTGGTGGAGGTGACA GT	A A	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01346.hp1 HG01346.hp2 others(13): Show HG01169.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01517.hp1 HG01934.hp1 HG01993.hp2 HG02056.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02683.hp2 HG02723.hp1 HG02976.hp2 NA18990.hp2 NA19240.hp2	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0005 a0008 a0013 a0032 a0036 a0071 a0084 a0093 a0101 a0102	a0001c0004 a0001c0006 a0001c0075 others(12): Show a0001c0004 a0001c0006 a0001c0075 a0002c0010 a0003c0005 a0005c0007 a0008c0028 a0013c0012 a0032c0022 a0036c0144 a0071c0131 a0084c0051 a0093c0106 a0101c0111 a0102c0128	a0001c0004t0014 a0001c0006t0005 a0001c0075t0015 others(12): Show a0001c0004t0014 a0001c0006t0005 a0001c0075t0015 a0002c0010t0004 a0003c0005t0007 a0005c0007t0004 a0008c0028t0018 a0013c0012t0056 a0032c0022t0006 a0036c0144t0003 a0071c0131t0006 a0084c0051t0013 a0093c0106t0018 a0101c0111t0027 a0102c0128t0008	a0001c0004t0014g0053 a0001c0006t0005g0161 a0001c0075t0015g0099 others(13): Show a0001c0004t0014g0053 a0001c0006t0005g0161 a0001c0075t0015g0099 a0002c0010t0004g0187 a0003c0005t0007g0274 a0005c0007t0004g0207 a0005c0007t0004g0211 a0008c0028t0018g0244 a0013c0012t0056g0192 a0032c0022t0006g0169 a0036c0144t0003g0173 a0071c0131t0006g0010 a0084c0051t0013g0110 a0093c0106t0018g0032 a0101c0111t0027g0082 a0102c0128t0008g0168	16	292	0.0548	-51	c.281 others(70): Show c.2812-1477_2812-1427delAGTGATGGTGGAGGTACTGGAGGTGA TGGTGGTGGTGGTGGAGGTGACAGT		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67						chr17	TogoVar
RNF32_chr7_156635774_156682130	156678788	GCCACTTC others(44): Show GCCACTTCTTGTGCCTTCTCACACATCCCTTTTTGCCTTTAAATCCACTT AA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0139 a0001c0001t0002g0139	1	448	0.0022	-51	c.21 others(62): Show c.2134_*2184delCCACTTCTTGTGCCTTCTCACACATCCCTTTTTG CCTTTAAATCCACTTAA		RNF32	ENSG00000105982.17	transcript	ENST00000317955.10	protein_coding					1659		chr7	TogoVar
RNPC3_chr1_103520699_103560239	103525497	GCCGCCGT others(44): Show GCCGCCGTGCGCCCCGCCCCGCCGTGCGCCCCGCCCCGCCGTGCGCCCCG CC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG01168.hp1 HG01169.hp2 others(13): Show HG00733.hp1 HG01168.hp1 HG01169.hp2 HG02622.hp2 HG02965.hp1 HG03139.hp1 HG03490.hp2 HG03688.hp1 HG04115.hp2 NA18948.hp1 NA18983.hp2 NA18994.hp2 NA19001.hp1 NA19001.hp2 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0026 a0001c0001t0001g0048 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0026 a0001c0001t0001g0048 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0126 a0001c0001t0002g0044 a0001c0001t0002g0153 a0001c0002t0001g0005 a0001c0002t0001g0015 a0001c0002t0001g0019 a0001c0002t0001g0072	16	370	0.0432	-51	c.-57 others(60): Show c.-573_-523delCCGCCGTGCGCCCCGCCCCGCCGTGCGCCCCGCCCC GCCGTGCGCCCCGCC		RNPC3	ENSG00000185946.16	transcript	ENST00000423855.7	protein_coding					201		chr1	TogoVar
RPA2_chr1_27886524_27919575	27916942	CTTCCTCC others(44): Show CTTCCTCCTTCCTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTC CT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0163 a0001c0001t0002g0163	1	364	0.0028	-51	c.-25 others(62): Show c.-2550_-2500delAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGAAG GAAGGAGGAAGGAGGAA		RPA2	ENSG00000117748.10	transcript	ENST00000373912.8	protein_coding					2368		chr1	TogoVar
RPH3AL_chr17_207389_357807	242300	TTACCTTC others(44): Show TTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTG AC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	133	0.0075	-51	c.613 others(68): Show c.613+4760_613+4810delGTCAATAGAGGAAGGTAGTCAATAGAGG AAGGTAGTCAATAGAGGAAGGTA		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9						chr17	TogoVar
RPTOR_chr17_80539838_80971368	80665474	TTTCCTTT others(44): Show TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCATGTCCTTTCCTTTCCTTTC CA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0051 a0001c0025t0051	a0001c0025t0051g0174 a0001c0025t0051g0174	1	196	0.0051	-51	c.348 others(70): Show c.348+21666_348+21716delTCCTTTCCTTTCCTTTCCTTTCCTTT CCATGTCCTTTCCTTTCCTTTCCAT		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80665479	TTTCCTTT others(44): Show TTTCCTTTCCTTTCCTTTCCTTTCCATGTCCTTTCCTTTCCTTTCCATGT CC	T T	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0030 a0001c0007t0030	a0001c0007t0030g0018 a0001c0007t0030g0018	1	196	0.0051	-51	c.348 others(70): Show c.348+21672_348+21722delCCTTTCCTTTCCTTTCCTTTCCATGT CCTTTCCTTTCCTTTCCATGTCCTT		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80748552	GTGGATGG others(44): Show GTGGATGGAGGGGCTGCGGTGTGTGTTTGGAGGCCGTGGCGGGAGGACCT GT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(67): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00621.hp2 HG00639.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01175.hp1 HG01175.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01496.hp1 HG01884.hp1 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02129.hp1 HG02129.hp2 HG02165.hp2 HG02273.hp1 HG02630.hp2 HG02683.hp2 HG02886.hp2 HG02895.hp1 HG02970.hp2 HG03017.hp2 HG03239.hp2 HG03490.hp2 HG03491.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03831.hp2 NA18747.hp2 NA18944.hp1 NA18944.hp2 NA18963.hp1 NA18963.hp2 NA18980.hp1 NA18980.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19057.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19082.hp1 NA19082.hp2 NA19088.hp2 NA20300.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(34): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0009 a0001c0010 a0001c0013 a0001c0014 a0001c0017 a0001c0018 a0001c0019 a0001c0020 a0001c0021 a0001c0022 a0001c0023 a0001c0024 a0001c0026 a0001c0031 a0001c0032 a0001c0033 a0001c0035 a0001c0037 a0001c0055 a0001c0057 a0001c0058 a0001c0060 a0001c0072 a0001c0073 a0001c0076 a0001c0078 a0001c0080 a0001c0081 a0001c0085 a0003c0069 a0004c0082	a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 others(62): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0015 a0001c0001t0019 a0001c0001t0092 a0001c0002t0002 a0001c0002t0008 a0001c0002t0010 a0001c0002t0015 a0001c0002t0017 a0001c0002t0039 a0001c0002t0040 a0001c0003t0010 a0001c0003t0014 a0001c0003t0038 a0001c0004t0033 a0001c0006t0013 a0001c0006t0022 a0001c0008t0021 a0001c0008t0027 a0001c0008t0054 a0001c0009t0028 a0001c0010t0032 a0001c0013t0013 a0001c0013t0021 a0001c0013t0089 a0001c0014t0002 a0001c0014t0034 a0001c0017t0005 a0001c0017t0015 a0001c0018t0009 a0001c0019t0003 a0001c0019t0005 a0001c0019t0042 a0001c0020t0048 a0001c0021t0065 a0001c0022t0001 a0001c0022t0022 a0001c0023t0002 a0001c0023t0009 a0001c0024t0002 a0001c0024t0003 a0001c0024t0037 a0001c0026t0010 a0001c0026t0043 a0001c0031t0011 a0001c0032t0033 a0001c0033t0098 a0001c0035t0010 a0001c0035t0095 a0001c0037t0004 a0001c0055t0049 a0001c0057t0077 a0001c0058t0004 a0001c0060t0001 a0001c0072t0006 a0001c0073t0002 a0001c0076t0011 a0001c0078t0041 a0001c0080t0011 a0001c0081t0002 a0001c0085t0003 a0003c0069t0044 a0004c0082t0010	a0001c0001t0002g0038 a0001c0001t0005g0042 a0001c0001t0005g0044 others(67): Show a0001c0001t0002g0038 a0001c0001t0005g0042 a0001c0001t0005g0044 a0001c0001t0005g0046 a0001c0001t0009g0030 a0001c0001t0015g0085 a0001c0001t0019g0050 a0001c0001t0092g0029 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0008g0131 a0001c0002t0010g0064 a0001c0002t0015g0086 a0001c0002t0017g0118 a0001c0002t0039g0088 a0001c0002t0040g0105 a0001c0003t0010g0069 a0001c0003t0014g0102 a0001c0003t0038g0087 a0001c0004t0033g0023 a0001c0006t0013g0068 a0001c0006t0022g0090 a0001c0008t0021g0091 a0001c0008t0027g0143 a0001c0008t0054g0169 a0001c0009t0028g0113 a0001c0010t0032g0059 a0001c0013t0013g0065 a0001c0013t0021g0093 a0001c0013t0089g0047 a0001c0014t0002g0032 a0001c0014t0002g0033 a0001c0014t0034g0072 a0001c0017t0005g0031 a0001c0017t0005g0067 a0001c0017t0015g0082 a0001c0018t0009g0066 a0001c0019t0003g0135 a0001c0019t0005g0037 a0001c0019t0042g0089 a0001c0020t0048g0094 a0001c0021t0065g0112 a0001c0022t0001g0170 a0001c0022t0022g0095 a0001c0023t0002g0049 a0001c0023t0009g0071 a0001c0024t0002g0048 a0001c0024t0003g0129 a0001c0024t0037g0092 a0001c0026t0010g0045 a0001c0026t0043g0096 a0001c0031t0011g0073 a0001c0032t0033g0039 a0001c0033t0098g0026 a0001c0035t0010g0063 a0001c0035t0095g0041 a0001c0037t0004g0145 a0001c0055t0049g0083 a0001c0057t0077g0016 a0001c0058t0004g0156 a0001c0060t0001g0130 a0001c0072t0006g0108 a0001c0073t0002g0070 a0001c0076t0011g0084 a0001c0078t0041g0100 a0001c0080t0011g0077 a0001c0081t0002g0022 a0001c0085t0003g0162 a0003c0069t0044g0099 a0004c0082t0010g0052	70	196	0.3571	-51	c.655 others(68): Show c.655-5446_655-5396delGCTGCGGTGTGTGTTTGGAGGCCGTGGC GGGAGGACCTGTTGGATGGAGGG		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80748593	GGAGGACC others(44): Show GGAGGACCTGTTGGATGGAGGGACTGTGGTGTGTGTTTAGAGGCCGTGGC GA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA18522.hp1 NA18906.hp2 others(1): Show HG02109.hp1 NA18522.hp1 NA18906.hp2 NA19030.hp1	a0001 a0001	a0001c0005 a0001c0067 a0001c0075 a0001c0005 a0001c0067 a0001c0075	a0001c0005t0026 a0001c0005t0067 a0001c0067t0068 others(1): Show a0001c0005t0026 a0001c0005t0067 a0001c0067t0068 a0001c0075t0012	a0001c0005t0026g0109 a0001c0005t0067g0111 a0001c0067t0068g0110 others(1): Show a0001c0005t0026g0109 a0001c0005t0067g0111 a0001c0067t0068g0110 a0001c0075t0012g0127	4	196	0.0204	-51	c.655 others(68): Show c.655-5403_655-5353delATGGAGGGACTGTGGTGTGTGTTTAGAG GCCGTGGCGAGAGGACCTGTTGG		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RTP5_chr2_241864729_241878823	241866292	CGCGGGAT others(44): Show CGCGGGATGCTGAGCTGCGGGGGGATGCTGAGCTGCGGGGGATGCTGAGC TG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp2 NA18975.hp1 NA18975.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0026 a0002c0002t0001g0002 a0002c0002t0001g0026	2	365	0.0055	-51	c.-34 others(62): Show c.-3464_-3414delGCGGGATGCTGAGCTGCGGGGGGATGCTGAGCTG CGGGGGATGCTGAGCTG		RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding					3436		chr2	TogoVar
RYR2_chr1_237037184_237838988	237161488	GTCTCTAA others(44): Show GTCTCTAAGAATGCTGTTTCCACTGCATTTACATAAGGGATATATAATTT AT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03579.hp1 NA20300.hp2 HG01109.hp1 HG03579.hp1 NA20300.hp2	a0001 a0001	a0001c0005 a0001c0011 a0001c0049 a0001c0005 a0001c0011 a0001c0049	a0001c0005t0006 a0001c0011t0004 a0001c0049t0009 a0001c0005t0006 a0001c0011t0004 a0001c0049t0009	a0001c0005t0006g0029 a0001c0011t0004g0064 a0001c0049t0009g0044 a0001c0005t0006g0029 a0001c0011t0004g0064 a0001c0049t0009g0044	3	100	0.0300	-51	c.49- others(70): Show c.49-109007_49-108957delCTCTAAGAATGCTGTTTCCACTGCAT TTACATAAGGGATATATAATTTATT		RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104					INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237420872	CCAAATAA others(44): Show CCAAATAATGGAAACAAATATTAAACATATTTCCAAATATTTCATTGTTT TT	C C	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG03831.hp2 HG01169.hp2 HG03831.hp2	a0001 a0002 a0001 a0002	a0001c0027 a0002c0009 a0001c0027 a0002c0009	a0001c0027t0002 a0002c0009t0002 a0001c0027t0002 a0002c0009t0002	a0001c0027t0002g0085 a0002c0009t0002g0079 a0001c0027t0002g0085 a0002c0009t0002g0079	2	100	0.0200	-51	c.849 others(68): Show c.849-2191_849-2141delTTTCCAAATATTTCATTGTTTTTCAAAT AATGGAAACAAATATTAAACATA		RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	11/104					INFO_REALIGN_3_PRIME	chr1	TogoVar
S1PR1_chr1_101232019_101246518	101242978	TCTGGTTT others(44): Show TCTGGTTTTAATTCAGTGTATTCTCAGAAGTAAGAATGAGAAAAAAATCT TA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	456	0.0022	-51	c.28 others(62): Show c.2846_*2896delCTGGTTTTAATTCAGTGTATTCTCAGAAGTAAGA ATGAGAAAAAAATCTTA		S1PR1	ENSG00000170989.10	transcript	ENST00000305352.7	protein_coding					1461		chr1	TogoVar
SASH1_chr6_148337838_148557044	148387566	CTCTTTCT others(44): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CT	C C	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0039 a0002c0002t0002g0039	1	322	0.0031	-51	c.157 others(68): Show c.157-2566_157-2516delCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTT		SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr6	TogoVar
SBF1_chr22_50440000_50480035	50475489	GGCGATGG others(44): Show GGCGATGGGGAACAGAGAGAGAATTCAGGCCCTGCCCTTGGGGTCCCAGG CT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0042 a0001c0002t0042	a0001c0002t0042g0122 a0001c0002t0042g0122	1	402	0.0025	-51	c.-70 others(60): Show c.-700_-650delAGCCTGGGACCCCAAGGGCAGGGCCTGAATTCTCTC TCTGTTCCCCATCGC		SBF1	ENSG00000100241.22	transcript	ENST00000380817.8	protein_coding					455		chr22	TogoVar
SCN11A_chr3_38840764_39056944	38877063	GTATATAT others(44): Show GTATATATATGGTGTATATACTATATATATGGTATATATATGGTGTATAT AC	G G	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG03704.hp1 HG01257.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0142 a0001c0001t0001g0131 a0001c0001t0001g0142	2	314	0.0064	-51	c.339 others(70): Show c.3393+2836_3393+2886delGTATATACACCATATATATACCATAT ATATAGTATATACACCATATATATA		SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	23/29						chr3	TogoVar
SCN8A_chr12_51586233_51817864	51815324	CTTGCTCT others(44): Show CTTGCTCTCCATTAACTTCGATATTCAATCAATTCCTACATTCTCTTTTT TT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0058 a0001c0001t0004g0058	1	202	0.0050	-51	c.78 others(62): Show c.7896_*7946delTTGCTCTCCATTAACTTCGATATTCAATCAATTC CTACATTCTCTTTTTTT		SCN8A	ENSG00000196876.19	transcript	ENST00000354534.11	protein_coding					2461		chr12	TogoVar
SCNN1D_chr1_1275436_1297025	1289808	TGTCTCTG others(44): Show TGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCCGTCCCCC GA	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0004 a0008c0007t0004	a0008c0007t0004g0266 a0008c0007t0004g0266	1	290	0.0035	-51	c.166 others(68): Show c.1663-446_1663-396delCCGTGTCTCTGCCCCGTCCCGTGTCCGT CCCCCGAGTCTCTGCTCCGTCCC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCUBE1_chr22_43192280_43348372	43280579	CCCTGCAG others(44): Show CCCTGCAGACATCCTCCTGCTACCTTTCCCCTGCTACGCTGTCACCTCCT CT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp2 HG00597.hp1 others(9): Show HG00408.hp1 HG00558.hp2 HG00597.hp1 HG02056.hp1 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02165.hp1 HG03492.hp1 NA19005.hp1 NA19065.hp2 NA19066.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0012	a0001c0035 a0002c0002 a0002c0005 others(2): Show a0001c0035 a0002c0002 a0002c0005 a0006c0015 a0012c0032	a0001c0035t0004 a0002c0002t0002 a0002c0002t0007 others(3): Show a0001c0035t0004 a0002c0002t0002 a0002c0002t0007 a0002c0005t0001 a0006c0015t0007 a0012c0032t0002	a0001c0035t0004g0209 a0002c0002t0002g0036 a0002c0002t0002g0106 others(9): Show a0001c0035t0004g0209 a0002c0002t0002g0036 a0002c0002t0002g0106 a0002c0002t0002g0117 a0002c0002t0002g0173 a0002c0002t0002g0250 a0002c0002t0007g0047 a0002c0005t0001g0049 a0006c0015t0007g0028 a0006c0015t0007g0066 a0006c0015t0007g0183 a0012c0032t0002g0019	12	280	0.0429	-51	c.484 others(70): Show c.484+10416_484+10466delAGAGGAGGTGACAGCGTAGCAGGGGA AAGGTAGCAGGAGGATGTCTGCAGG		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21						chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281535	CTCAGTCA others(44): Show CTCAGTCACCCTCCTGTCACCTCCCCCTCAGCCACCCTCCTGTCACCTCC CT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0265 a0002c0002t0002g0265	1	280	0.0036	-51	c.484 others(68): Show c.484+9460_484+9510delAGGGAGGTGACAGGAGGGTGGCTGAGGG GGAGGTGACAGGAGGGTGACTGA		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21						chr22	TogoVar
SCYGR5_chr2_227661804_227672061	227666931	GCTGCTGT others(44): Show GCTGCTGTGGGGGCTGCTGCAGCACACCTGTGATCTGCTGCTGCCGCCGC AC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00323.hp2 HG00323.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0000 a0009c0012t0000	a0009c0012t0000g0000 a0009c0012t0000g0000	1	460	0.0022	-51	c.135 others(58): Show c.135_185delTGGGGGCTGCTGCAGCACACCTGTGATCTGCTGCTGCC GCCGCACCTGCTG	p.Gly others(11): Show p.Gly46_Cys62del	SCYGR5	ENSG00000284667.1	transcript	ENST00000641976.1	protein_coding	1/1	135/258	135/258	45/85		INFO_REALIGN_3_PRIME	chr2	TogoVar
SDK1_chr7_3296252_4274000	3976015	ATCCTCCA others(44): Show ATCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGTAGAG GG	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0024 a0001c0025t0024	a0001c0025t0024g0088 a0001c0025t0024g0088	1	116	0.0086	-51	c.199 others(70): Show c.1994+1489_1994+1539delGGGGTCCCGGGGCTGAGGCTGCCACG TAGAGGGTCCTCCAGAGAATCACTG		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976213	CAGAGGGT others(44): Show CAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCAC GT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0041 a0002c0041	a0002c0041t0007 a0002c0041t0007	a0002c0041t0007g0108 a0002c0041t0007g0108	1	116	0.0086	-51	c.199 others(70): Show c.1994+1719_1994+1769delTAGAGGGTCCTCCAGAGAATCACTGA GGGTCCCGGGGCTGAGGCTGCCACG		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3977349	AGGGTCCC others(44): Show AGGGTCCCGGGGCTGAGGCTGCCACACAGACGGTCCTCCAGAGAATCACT GG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0011 a0001c0017t0011	a0001c0017t0011g0051 a0001c0017t0011g0051	1	116	0.0086	-51	c.199 others(70): Show c.1994+2834_1994+2884delCGGTCCTCCAGAGAATCACTGGGGGT CCCGGGGCTGAGGCTGCCACACAGA		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SELENOK_chr3_53879417_53896859	53888029	ATATAATA others(44): Show ATATAATATGGAATGAAAGTTGCATGCACAAAGAAAAAAACAAAACAAGA AT	A A	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	422	0.0024	-51	c.110 others(66): Show c.110+313_110+363delATTCTTGTTTTGTTTTTTTCTTTGTGCATG CAACTTTCATTCCATATTATA		SELENOK	ENSG00000113811.12	transcript	ENST00000495461.6	protein_coding	2/4						chr3	TogoVar
SENP1_chr12_48037897_48111079	48056526	CATATATA others(44): Show CATATATAAATATATTATTTAATATATTACATATATAAATATATTATTTA AT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00639.hp2 others(72): Show HG00140.hp1 HG00408.hp2 HG00639.hp2 HG01074.hp2 HG01099.hp1 HG01243.hp1 HG01257.hp1 HG01258.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02723.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03130.hp2 HG03195.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03710.hp2 HG04199.hp1 HG04204.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18953.hp2 NA18963.hp1 NA18965.hp2 NA18968.hp2 NA18972.hp1 NA18974.hp2 NA18977.hp1 NA18994.hp1 NA18998.hp2 NA19001.hp1 NA19004.hp2 NA19009.hp1 NA19010.hp1 NA19012.hp1 NA19030.hp2 NA19043.hp2 NA19055.hp1 NA19058.hp2 NA19065.hp1 NA19075.hp2 NA19083.hp1 NA19087.hp2 NA19090.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0005c0006 a0001c0001 a0001c0003 a0005c0006	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(5): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0024 a0001c0003t0008 a0005c0006t0005	a0001c0001t0003g0006 a0001c0001t0003g0161 a0001c0001t0003g0193 others(71): Show a0001c0001t0003g0006 a0001c0001t0003g0161 a0001c0001t0003g0193 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0241 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0003g0265 a0001c0001t0003g0266 a0001c0001t0003g0268 a0001c0001t0003g0269 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0274 a0001c0001t0004g0236 a0001c0001t0004g0259 a0001c0001t0005g0195 a0001c0001t0005g0227 a0001c0001t0005g0229 a0001c0001t0005g0231 a0001c0001t0005g0232 a0001c0001t0005g0254 a0001c0001t0005g0255 a0001c0001t0005g0257 a0001c0001t0005g0258 a0001c0001t0005g0270 a0001c0001t0006g0286 a0001c0001t0006g0289 a0001c0001t0006g0290 a0001c0001t0006g0291 a0001c0001t0006g0292 a0001c0001t0006g0296 a0001c0001t0006g0297 a0001c0001t0006g0308 a0001c0001t0011g0228 a0001c0001t0011g0243 a0001c0001t0024g0303 a0001c0003t0008g0151 a0001c0003t0008g0349 a0005c0006t0005g0226	75	394	0.1904	-51	c.140 others(70): Show c.1407+7133_1407+7183delATTAAATAATATATTTATATATGTAA TATATTAAATAATATATTTATATAT		SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	13/17						chr12	TogoVar
SENP1_chr12_48037897_48111079	48056584	CATATATA others(44): Show CATATATAAATATATTATTTAATATATTACATATATAAATATATTATTTA AT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp2 HG01891.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0340 a0001c0001t0004g0345 a0001c0001t0004g0340 a0001c0001t0004g0345	2	394	0.0051	-51	c.140 others(70): Show c.1407+7075_1407+7125delATTAAATAATATATTTATATATGTAA TATATTAAATAATATATTTATATAT		SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	13/17						chr12	TogoVar
SEPTIN7_chr7_35796057_35912110	35911074	CCCAACTG others(44): Show CCCAACTGTCACGAGCAACACCCATCAAACACAGCCACCCACCTGGGGAC AG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0143	1	346	0.0029	-51	c.67 others(62): Show c.6782_*6832delCCAACTGTCACGAGCAACACCCATCAAACACAGC CACCCACCTGGGGACAG		SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding					3965		chr7	TogoVar
SERPINE1_chr7_101122104_101144247	101143515	GAGAAAGA others(44): Show GAGAAAGAAAGAGAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAG AA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00423.hp2 others(62): Show HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00609.hp2 HG00673.hp1 HG01069.hp1 HG01070.hp1 HG01496.hp1 HG01891.hp1 HG01934.hp1 HG01943.hp2 HG01981.hp1 HG02027.hp1 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02165.hp1 HG02257.hp1 HG02683.hp1 HG02717.hp2 HG03579.hp2 HG03688.hp1 HG03831.hp2 HG04184.hp2 NA18612.hp1 NA18747.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp2 NA18952.hp1 NA18953.hp2 NA18956.hp2 NA18959.hp1 NA18961.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18986.hp2 NA18987.hp2 NA18988.hp2 NA18990.hp2 NA19003.hp1 NA19011.hp2 NA19057.hp1 NA19063.hp1 NA19064.hp1 NA19066.hp1 NA19074.hp1 NA19074.hp2 NA19076.hp2 NA19080.hp2 NA19087.hp1 NA19088.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0020 others(2): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0020 a0001c0001t0023 a0001c0001t0038	a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0026 others(57): Show a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0048 a0001c0001t0001g0071 a0001c0001t0001g0080 a0001c0001t0001g0102 a0001c0001t0001g0113 a0001c0001t0001g0119 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0001g0292 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0318 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0334 a0001c0001t0014g0116 a0001c0001t0014g0118 a0001c0001t0020g0133 a0001c0001t0023g0132 a0001c0001t0038g0030	65	436	0.1491	-51	c.60 others(62): Show c.6074_*6124delAGAAAGAAAGAGAGAAAGAAAGAAGAAAGAAAGA AAGAAAGAAAGAAAGAA		SERPINE1	ENSG00000106366.9	transcript	ENST00000223095.5	protein_coding					4269		chr7	TogoVar
SFI1_chr22_31491536_31623588	31592337	TGGCTGGC others(44): Show TGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGG GC	T T	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	322	0.0031	-51	c.154 others(70): Show c.1544+2779_1544+2829delGCTGACCCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGGGGG		SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	15/32					INFO_REALIGN_3_PRIME	chr22	TogoVar
SFMBT2_chr10_7153624_7416034	7207479	AAGGAAGG others(44): Show AAGGAAGGAAGGAAGGAAAGGGAGGAAGGAAAGGGGAAAGAGGGAGGGAG GG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00642.hp1 others(97): Show HG00408.hp1 HG00408.hp2 HG00642.hp1 HG00642.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01261.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01993.hp1 HG01993.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 NA18522.hp1 NA18906.hp2 NA18983.hp1 NA18983.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19043.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0010 a0002c0005 a0003c0004 a0004c0008 a0006c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(39): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0038 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0011 a0001c0002t0012 a0001c0002t0024 a0001c0003t0006 a0001c0003t0025 a0001c0003t0026 a0001c0006t0006 a0001c0007t0002 a0001c0010t0027 a0002c0005t0001 a0003c0004t0007 a0004c0008t0001 a0006c0011t0010	a0001c0001t0001g0022 a0001c0001t0001g0044 a0001c0001t0001g0061 others(97): Show a0001c0001t0001g0022 a0001c0001t0001g0044 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0083 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0125 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0002g0047 a0001c0001t0002g0050 a0001c0001t0002g0057 a0001c0001t0002g0063 a0001c0001t0002g0084 a0001c0001t0002g0095 a0001c0001t0002g0106 a0001c0001t0002g0122 a0001c0001t0002g0127 a0001c0001t0002g0131 a0001c0001t0003g0023 a0001c0001t0003g0033 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0081 a0001c0001t0003g0086 a0001c0001t0003g0093 a0001c0001t0003g0099 a0001c0001t0003g0115 a0001c0001t0003g0134 a0001c0001t0003g0138 a0001c0001t0003g0141 a0001c0001t0004g0052 a0001c0001t0004g0121 a0001c0001t0005g0012 a0001c0001t0005g0027 a0001c0001t0008g0058 a0001c0001t0008g0102 a0001c0001t0008g0126 a0001c0001t0008g0132 a0001c0001t0008g0143 a0001c0001t0009g0043 a0001c0001t0009g0089 a0001c0001t0010g0003 a0001c0001t0010g0045 a0001c0001t0010g0091 a0001c0001t0011g0118 a0001c0001t0011g0119 a0001c0001t0011g0120 a0001c0001t0012g0080 a0001c0001t0013g0004 a0001c0001t0013g0116 a0001c0001t0014g0097 a0001c0001t0015g0085 a0001c0001t0015g0087 a0001c0001t0015g0135 a0001c0001t0017g0021 a0001c0001t0017g0048 a0001c0001t0018g0031 a0001c0001t0019g0051 a0001c0001t0019g0074 a0001c0001t0021g0001 a0001c0001t0022g0128 a0001c0001t0028g0107 a0001c0001t0030g0032 a0001c0001t0031g0136 a0001c0001t0032g0071 a0001c0001t0033g0142 a0001c0001t0034g0133 a0001c0001t0035g0082 a0001c0001t0038g0144 a0001c0002t0001g0009 a0001c0002t0001g0036 a0001c0002t0001g0101 a0001c0002t0002g0037 a0001c0002t0002g0090 a0001c0002t0002g0094 a0001c0002t0002g0100 a0001c0002t0004g0042 a0001c0002t0011g0015 a0001c0002t0012g0108 a0001c0002t0024g0072 a0001c0003t0006g0005 a0001c0003t0006g0006 a0001c0003t0006g0014 a0001c0003t0006g0018 a0001c0003t0006g0035 a0001c0003t0025g0034 a0001c0003t0026g0020 a0001c0006t0006g0013 a0001c0006t0006g0066 a0001c0007t0002g0096 a0001c0010t0027g0026 a0002c0005t0001g0059 a0002c0005t0001g0130 a0003c0004t0007g0025 a0003c0004t0007g0040 a0004c0008t0001g0124 a0006c0011t0010g0049	100	144	0.6944	-51	c.133 others(70): Show c.1331-1602_1331-1552delCCCTCCCTCCCTCTTTCCCCTTTCCT TCCTCCCTTTCCTTCCTTCCTTCCT		SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	11/20						chr10	TogoVar
SFSWAP_chr12_131706090_131804738	131795991	GGGAGAGG others(44): Show GGGAGAGGGGGAGGGGAGGGGAGGGGAGAGGGGGAGGGGAGGGGAGGGGA GC	G G	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	318	0.0031	-51	c.253 others(70): Show c.2535-1162_2535-1112delGAGAGGGGGAGGGGAGGGGAGGGGAG CGGAGAGGGGGAGGGGAGGGGAGGG		SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	15/17					INFO_REALIGN_3_PRIME	chr12	TogoVar
SFSWAP_chr12_131706090_131804738	131801525	CTCGTGTT others(44): Show CTCGTGTTTGCCATGGCCCGTGTTTGCCGTGGCCCGTGTTTGCTGTGGCT GT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0288 a0001c0002t0001g0288	1	318	0.0031	-51	c.20 others(62): Show c.2038_*2088delTCGTGTTTGCCATGGCCCGTGTTTGCCGTGGCCC GTGTTTGCTGTGGCTGT		SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding					1788		chr12	TogoVar
SGSM2_chr17_2332501_2386054	2355237	TGGGGGCA others(44): Show TGGGGGCAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGT TG	T T	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	422	0.0024	-51	c.134 others(68): Show c.134-6395_134-6345delGCAGGGGCCCCATATCTTAGAATGGTGG AATCGGGGTGTAAGGGTTGGGGG		SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23					INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM2_chr17_2332501_2386054	2355535	TGGGGGAA others(44): Show TGGGGGAAGGGACCCCATATCTTAGAATGGTAGAATCGGGGTGTAAGAGT TG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00408.hp2 others(102): Show HG00140.hp1 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp2 HG00738.hp2 HG01106.hp2 HG01346.hp2 HG01515.hp2 HG01516.hp1 HG01934.hp1 HG01978.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02129.hp2 HG02258.hp1 HG02486.hp1 HG02523.hp1 HG02622.hp1 HG03471.hp2 HG03491.hp1 HG03492.hp1 HG03654.hp1 HG03669.hp1 HG03927.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp2 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18954.hp2 NA18957.hp2 NA18960.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18970.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18979.hp1 NA18981.hp2 NA18984.hp1 NA18990.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19003.hp1 NA19009.hp1 NA19011.hp2 NA19012.hp2 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19070.hp1 NA19072.hp1 NA19072.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp2 NA19089.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0013 a0018 a0019 a0028	a0001c0001 a0001c0003 a0001c0032 others(8): Show a0001c0001 a0001c0003 a0001c0032 a0001c0037 a0001c0039 a0002c0002 a0004c0010 a0013c0030 a0018c0036 a0019c0038 a0028c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0003t0001 a0001c0003t0002 a0001c0032t0001 a0001c0037t0001 a0001c0039t0001 a0002c0002t0001 a0002c0002t0002 a0004c0010t0001 a0013c0030t0024 a0018c0036t0002 a0019c0038t0008 a0028c0014t0001	a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0025 others(100): Show a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0058 a0001c0001t0001g0109 a0001c0001t0001g0115 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0138 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0176 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0223 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0246 a0001c0001t0001g0257 a0001c0001t0001g0267 a0001c0001t0001g0277 a0001c0001t0001g0296 a0001c0001t0001g0303 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0377 a0001c0001t0001g0394 a0001c0001t0002g0022 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0170 a0001c0001t0002g0177 a0001c0001t0002g0200 a0001c0001t0002g0207 a0001c0001t0002g0221 a0001c0001t0002g0227 a0001c0001t0002g0238 a0001c0001t0002g0241 a0001c0001t0002g0249 a0001c0001t0002g0255 a0001c0001t0002g0271 a0001c0001t0002g0388 a0001c0001t0003g0204 a0001c0001t0003g0254 a0001c0001t0003g0269 a0001c0001t0007g0164 a0001c0001t0007g0173 a0001c0001t0007g0184 a0001c0001t0008g0175 a0001c0001t0008g0210 a0001c0001t0011g0116 a0001c0001t0012g0320 a0001c0003t0001g0108 a0001c0003t0001g0111 a0001c0003t0001g0118 a0001c0003t0002g0008 a0001c0003t0002g0099 a0001c0003t0002g0104 a0001c0003t0002g0105 a0001c0003t0002g0106 a0001c0003t0002g0107 a0001c0003t0002g0112 a0001c0003t0002g0113 a0001c0003t0002g0128 a0001c0003t0002g0206 a0001c0003t0002g0252 a0001c0032t0001g0188 a0001c0037t0001g0217 a0001c0039t0001g0234 a0002c0002t0001g0224 a0002c0002t0002g0103 a0004c0010t0001g0117 a0013c0030t0024g0149 a0018c0036t0002g0213 a0019c0038t0008g0216 a0028c0014t0001g0145	105	422	0.2488	-51	c.134 others(68): Show c.134-6097_134-6047delGAAGGGACCCCATATCTTAGAATGGTAG AATCGGGGTGTAAGAGTTGGGGG		SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23					INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM2_chr17_2332501_2386054	2355571	CGGGGTGT others(44): Show CGGGGTGTAAGAGTTGGGGGAAGGGACCCCATATCTTAGAATGGTGGAAT CG	C C	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	422	0.0024	-51	c.134 others(68): Show c.134-6062_134-6012delGTGTAAGAGTTGGGGGAAGGGACCCCAT ATCTTAGAATGGTGGAATCGGGG		SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23					INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM2_chr17_2332501_2386054	2355783	TGGGGGAA others(44): Show TGGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGT TG	T T	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0105 a0001c0003t0002g0105	1	422	0.0024	-51	c.134 others(68): Show c.134-5849_134-5799delGAAGGGACCCCATATCTTAGAATGGTGG AATCGGGGTGTAAGGGTTGGGGG		SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23					INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM2_chr17_2332501_2386054	2355932	TGGGGGAA others(44): Show TGGGGGAAGGGACCCCATATCTTAGAATGGTAGAATCGGGGTGTAAGAGT TG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(89): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00544.hp1 HG00597.hp1 HG00673.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01106.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01261.hp2 HG01361.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02109.hp2 HG02135.hp2 HG02258.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02698.hp2 HG02735.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03491.hp1 HG03492.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03710.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp2 NA18955.hp2 NA18962.hp1 NA18964.hp2 NA18965.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18978.hp2 NA18989.hp1 NA18989.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19012.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19063.hp1 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19070.hp2 NA19072.hp2 NA19079.hp1 NA19080.hp1 NA19085.hp1 NA19086.hp1 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA20752.hp1	a0001 a0002 a0008 others(6): Show a0001 a0002 a0008 a0010 a0011 a0012 a0018 a0020 a0023	a0001c0001 a0001c0003 a0001c0020 others(10): Show a0001c0001 a0001c0003 a0001c0020 a0001c0028 a0001c0029 a0002c0002 a0008c0019 a0010c0033 a0011c0027 a0012c0023 a0018c0036 a0020c0040 a0023c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0013 a0001c0001t0017 a0001c0003t0002 a0001c0020t0001 a0001c0028t0001 a0001c0029t0001 a0002c0002t0002 a0008c0019t0001 a0010c0033t0001 a0011c0027t0001 a0012c0023t0001 a0018c0036t0002 a0020c0040t0001 a0023c0018t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0019 others(85): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0082 a0001c0001t0001g0109 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0253 a0001c0001t0001g0278 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0297 a0001c0001t0001g0304 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0319 a0001c0001t0001g0321 a0001c0001t0001g0323 a0001c0001t0001g0328 a0001c0001t0001g0367 a0001c0001t0001g0370 a0001c0001t0001g0371 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0170 a0001c0001t0002g0200 a0001c0001t0002g0221 a0001c0001t0002g0228 a0001c0001t0002g0241 a0001c0001t0002g0255 a0001c0001t0002g0388 a0001c0001t0003g0269 a0001c0001t0003g0324 a0001c0001t0003g0330 a0001c0001t0010g0014 a0001c0001t0010g0259 a0001c0001t0013g0318 a0001c0001t0013g0322 a0001c0001t0017g0366 a0001c0003t0002g0008 a0001c0003t0002g0099 a0001c0003t0002g0104 a0001c0003t0002g0106 a0001c0003t0002g0119 a0001c0003t0002g0128 a0001c0003t0002g0206 a0001c0020t0001g0286 a0001c0028t0001g0250 a0001c0029t0001g0359 a0002c0002t0002g0103 a0008c0019t0001g0017 a0010c0033t0001g0202 a0011c0027t0001g0240 a0012c0023t0001g0368 a0018c0036t0002g0213 a0020c0040t0001g0220 a0023c0018t0001g0114	92	422	0.2180	-51	c.134 others(68): Show c.134-5700_134-5650delGAAGGGACCCCATATCTTAGAATGGTAG AATCGGGGTGTAAGAGTTGGGGG		SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23					INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM2_chr17_2332501_2386054	2356081	TGGGGGAA others(44): Show TGGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGT TG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00408.hp2 others(40): Show HG00140.hp1 HG00323.hp1 HG00408.hp2 HG00438.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00738.hp2 HG01515.hp2 HG01516.hp1 HG01934.hp1 HG01978.hp1 HG01981.hp2 HG02004.hp1 HG02080.hp1 HG02129.hp2 HG02523.hp1 HG03927.hp1 HG04115.hp2 HG04228.hp2 NA18612.hp2 NA18747.hp1 NA18947.hp1 NA18949.hp2 NA18953.hp1 NA18960.hp2 NA18966.hp2 NA18968.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18979.hp1 NA18981.hp2 NA18990.hp1 NA18995.hp2 NA18999.hp2 NA19003.hp1 NA19057.hp2 NA19060.hp1 NA19063.hp2 NA19081.hp2 NA19086.hp2 NA19089.hp2	a0001 a0002 a0019 others(1): Show a0001 a0002 a0019 a0028	a0001c0001 a0001c0003 a0001c0039 others(3): Show a0001c0001 a0001c0003 a0001c0039 a0002c0002 a0019c0038 a0028c0014	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(7): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0003t0001 a0001c0003t0002 a0001c0039t0001 a0002c0002t0001 a0019c0038t0008 a0028c0014t0001	a0001c0001t0001g0015 a0001c0001t0001g0025 a0001c0001t0001g0029 others(39): Show a0001c0001t0001g0015 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0058 a0001c0001t0001g0121 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0169 a0001c0001t0001g0181 a0001c0001t0001g0185 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0226 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0246 a0001c0001t0001g0256 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0377 a0001c0001t0007g0173 a0001c0001t0007g0184 a0001c0001t0008g0175 a0001c0001t0012g0320 a0001c0003t0001g0108 a0001c0003t0001g0118 a0001c0003t0002g0219 a0001c0039t0001g0234 a0002c0002t0001g0224 a0019c0038t0008g0216 a0028c0014t0001g0145	43	422	0.1019	-51	c.134 others(68): Show c.134-5551_134-5501delGAAGGGACCCCATATCTTAGAATGGTGG AATCGGGGTGTAAGGGTTGGGGG		SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23					INFO_REALIGN_3_PRIME	chr17	TogoVar