Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SDHAF4_chr6_70561930_70594569	70588842	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01516.hp1 HG02109.hp1 HG01516.hp1 HG02109.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0023 a0002c0002t0022 a0001c0001t0023 a0002c0002t0022	a0001c0001t0023g0090 a0002c0002t0022g0045 a0001c0001t0023g0090 a0002c0002t0022g0045	2	370	0.0054	26	c.13 others(35): Show c.132_*133insATATATATATATATATATATATATAT	SDHAF4	ENSG00000154079.6	transcript	ENST00000370474.4	protein_coding	3/3	133	INFO_REALIGN_3_PRIME	chr6	TogoVar
SDHB_chr1_17013722_17059032	17049647	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0307 a0001c0002t0001g0307	1	368	0.0027	26	c.72+ others(41): Show c.72+4275_72+4300dupAAAAAAAAAAAAAAAAAAAAAAAAAA	SDHB	ENSG00000117118.11	transcript	ENST00000375499.8	protein_coding	1/7			chr1	TogoVar
SDHC_chr1_161309381_161368206	161339662	G G	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02523.hp2 NA18946.hp2 others(1): Show HG00735.hp2 HG02523.hp2 NA18946.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0115 a0001c0001t0001g0145 others(1): Show a0001c0001t0001g0104 a0001c0001t0001g0115 a0001c0001t0001g0145 a0001c0001t0001g0168	4	330	0.0121	26	c.180 others(41): Show c.180-929_180-904dupTTTTTTTTTTTTTTTTTTTTTTTTTT	SDHC	ENSG00000143252.16	transcript	ENST00000367975.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	3321790	T T	TTCCTTCC others(19): Show TTCCTTCCTTCCTTCCTTCCTTCTCCC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0025 a0025	a0025c0084 a0025c0084	a0025c0084t0044 a0025c0084t0044	a0025c0084t0044g0004 a0025c0084t0044g0004	1	116	0.0086	26	c.298 others(45): Show c.298+19928_298+19929insTCCCTCCTTCCTTCCTTCCTTCCTTC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3418138	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0002 a0001c0038t0002	a0001c0038t0002g0077 a0001c0038t0002g0077	1	116	0.0086	26	c.298 others(47): Show c.298+116259_298+116260insAAAAAAAAAAAAAAAAAAAAAAAA AA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3485683	G G	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0033 a0001c0007t0003g0033	1	116	0.0086	26	c.299 others(47): Show c.299-133375_299-133374insTTTTTTTTTTTTTTTTTTTTTTTT TT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3672757	T T	TTATATAT others(19): Show TTATATATATACATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03209.hp1 HG02602.hp2 HG03209.hp1	a0001 a0002 a0001 a0002	a0001c0047 a0002c0009 a0001c0047 a0002c0009	a0001c0047t0022 a0002c0009t0004 a0001c0047t0022 a0002c0009t0004	a0001c0047t0022g0091 a0002c0009t0004g0093 a0001c0047t0022g0091 a0002c0009t0004g0093	2	116	0.0172	26	c.713 others(45): Show c.713+30653_713+30654insATATATATACATATATATATATATAT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3687056	A A	AACACACA others(19): Show AACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0073 a0001c0073	a0001c0073t0065 a0001c0073t0065	a0001c0073t0065g0027 a0001c0073t0065g0027	1	116	0.0086	26	c.713 others(45): Show c.713+44970_713+44995dupACACACACACACACACACACACACAC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3938645	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02630.hp2 HG02809.hp2 others(1): Show HG02622.hp2 HG02630.hp2 HG02809.hp2 NA18906.hp1	a0001 a0002 a0034 a0001 a0002 a0034	a0001c0011 a0001c0014 a0002c0013 others(1): Show a0001c0011 a0001c0014 a0002c0013 a0034c0076	a0001c0011t0008 a0001c0014t0018 a0002c0013t0015 others(1): Show a0001c0011t0008 a0001c0014t0018 a0002c0013t0015 a0034c0076t0008	a0001c0011t0008g0028 a0001c0014t0018g0060 a0002c0013t0015g0025 others(1): Show a0001c0011t0008g0028 a0001c0014t0018g0060 a0002c0013t0015g0025 a0034c0076t0008g0016	4	116	0.0345	26	c.848 others(45): Show c.848-12263_848-12262insAAAAAAAAAAAAAAAAAAAAAAAAAA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	5/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3938659	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0027 a0027	a0027c0082 a0027c0082	a0027c0082t0008 a0027c0082t0008	a0027c0082t0008g0075 a0027c0082t0008g0075	1	116	0.0086	26	c.848 others(45): Show c.848-12263_848-12262insAAAAAAAAAAAAAAAAAAAAAAAAGA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	5/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3954235	C C	CCACCCTC others(19): Show CCACCCTCCCCTCCTGCCTCCCCTCTA	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA18906.hp2 HG02886.hp1 NA18906.hp2	a0011 a0011	a0011c0021 a0011c0022 a0011c0021 a0011c0022	a0011c0021t0073 a0011c0022t0072 a0011c0021t0073 a0011c0022t0072	a0011c0021t0073g0006 a0011c0022t0072g0007 a0011c0021t0073g0006 a0011c0022t0072g0007	2	116	0.0172	26	c.115 others(45): Show c.1150+2324_1150+2349dupCCTCCTGCCTCCCCTCTACACCCTCC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	7/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4264432	G G	GAGTGAGG others(19): Show GAGTGAGGGAGGCCGCGTGGACCTCTC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01516.hp2 HG01891.hp2 others(7): Show HG01123.hp1 HG01516.hp2 HG01891.hp2 HG02615.hp1 HG02647.hp1 HG02738.hp1 HG03209.hp1 HG03516.hp1 HG03688.hp1 NA18522.hp1	a0001 a0004 a0005 others(4): Show a0001 a0004 a0005 a0021 a0025 a0029 a0032	a0001c0010 a0001c0033 a0001c0047 others(7): Show a0001c0010 a0001c0033 a0001c0047 a0001c0050 a0004c0001 a0005c0066 a0021c0025 a0025c0084 a0029c0090 a0032c0087	a0001c0010t0060 a0001c0033t0058 a0001c0047t0022 others(7): Show a0001c0010t0060 a0001c0033t0058 a0001c0047t0022 a0001c0050t0036 a0004c0001t0059 a0005c0066t0037 a0021c0025t0066 a0025c0084t0044 a0029c0090t0047 a0032c0087t0046	a0001c0010t0060g0017 a0001c0033t0058g0043 a0001c0047t0022g0091 others(7): Show a0001c0010t0060g0017 a0001c0033t0058g0043 a0001c0047t0022g0091 a0001c0050t0036g0109 a0004c0001t0059g0024 a0005c0066t0037g0065 a0021c0025t0066g0041 a0025c0084t0044g0004 a0029c0090t0047g0056 a0032c0087t0046g0012	10	116	0.0862	26	c.638 others(43): Show c.6382-692_6382-691insAGTGAGGGAGGCCGCGTGGACCTCTC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	44/44			chr7	TogoVar
SDK2_chr17_73329384_73649445	73355159	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02074.hp1 HG02155.hp2 others(2): Show HG00438.hp1 HG02074.hp1 HG02155.hp2 HG04184.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0015 others(1): Show a0001c0001 a0001c0004 a0001c0015 a0001c0024	a0001c0001t0025 a0001c0004t0001 a0001c0004t0079 others(2): Show a0001c0001t0025 a0001c0004t0001 a0001c0004t0079 a0001c0015t0080 a0001c0024t0009	a0001c0001t0025g0085 a0001c0004t0001g0110 a0001c0004t0079g0140 others(2): Show a0001c0001t0025g0085 a0001c0004t0001g0110 a0001c0004t0079g0140 a0001c0015t0080g0165 a0001c0024t0009g0188	5	204	0.0245	26	c.559 others(45): Show c.5594-2523_5594-2522insATATATATATATATATATATATATAT	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73355174	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02071.hp2 HG02129.hp2 others(1): Show HG00558.hp1 HG02071.hp2 HG02129.hp2 HG03688.hp1	a0001 a0012 a0023 a0001 a0012 a0023	a0001c0001 a0012c0108 a0023c0081 a0001c0001 a0012c0108 a0023c0081	a0001c0001t0009 a0012c0108t0031 a0023c0081t0001 a0001c0001t0009 a0012c0108t0031 a0023c0081t0001	a0001c0001t0009g0120 a0001c0001t0009g0139 a0012c0108t0031g0124 others(1): Show a0001c0001t0009g0120 a0001c0001t0009g0139 a0012c0108t0031g0124 a0023c0081t0001g0186	4	204	0.0196	26	c.559 others(45): Show c.5594-2538_5594-2537insAATATATATATATATATATATATATA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73426208	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02155.hp2 HG02129.hp1 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0025 a0001c0004t0010 a0001c0001t0025 a0001c0004t0010	a0001c0001t0025g0085 a0001c0004t0010g0087 a0001c0001t0025g0085 a0001c0004t0010g0087	2	204	0.0098	26	c.158 others(45): Show c.1584-2142_1584-2117dupAAAAAAAAAAAAAAAAAAAAAAAAAA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	12/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73509902	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01243.hp1 HG01346.hp1 others(16): Show HG01099.hp2 HG01243.hp1 HG01346.hp1 HG02129.hp1 HG02165.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02630.hp2 HG02698.hp1 HG02717.hp1 HG02738.hp1 HG02976.hp2 HG03516.hp1 HG03579.hp2 HG03942.hp1 NA18942.hp2 NA18961.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0020 a0025	a0001c0002 a0001c0003 a0001c0004 others(14): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0014 a0001c0018 a0001c0040 a0001c0042 a0002c0059 a0004c0039 a0004c0066 a0005c0012 a0005c0037 a0005c0065 a0020c0092 a0025c0061	a0001c0002t0041 a0001c0003t0051 a0001c0003t0061 others(16): Show a0001c0002t0041 a0001c0003t0051 a0001c0003t0061 a0001c0004t0010 a0001c0005t0050 a0001c0007t0004 a0001c0007t0005 a0001c0014t0004 a0001c0018t0030 a0001c0040t0099 a0001c0042t0033 a0002c0059t0021 a0004c0039t0028 a0004c0066t0018 a0005c0012t0081 a0005c0037t0007 a0005c0065t0013 a0020c0092t0007 a0025c0061t0012	a0001c0002t0041g0022 a0001c0003t0051g0046 a0001c0003t0061g0041 others(16): Show a0001c0002t0041g0022 a0001c0003t0051g0046 a0001c0003t0061g0041 a0001c0004t0010g0087 a0001c0005t0050g0032 a0001c0007t0004g0051 a0001c0007t0005g0134 a0001c0014t0004g0170 a0001c0018t0030g0129 a0001c0040t0099g0125 a0001c0042t0033g0003 a0002c0059t0021g0143 a0004c0039t0028g0127 a0004c0066t0018g0031 a0005c0012t0081g0178 a0005c0037t0007g0052 a0005c0065t0013g0066 a0020c0092t0007g0114 a0025c0061t0012g0073	19	204	0.0931	26	c.65- others(41): Show c.65-2306_65-2305insTTTTTTTTTTTTTTTTTTTTTTTTTT	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	1/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73545099	G G	GCACACAC others(19): Show GCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01175.hp1 HG00733.hp1 HG01175.hp1	a0001 a0002 a0001 a0002	a0001c0051 a0002c0020 a0001c0051 a0002c0020	a0001c0051t0007 a0002c0020t0026 a0001c0051t0007 a0002c0020t0026	a0001c0051t0007g0056 a0002c0020t0026g0107 a0001c0051t0007g0056 a0002c0020t0026g0107	2	204	0.0098	26	c.65- others(43): Show c.65-37528_65-37503dupTGTGTGTGTGTGTGTGTGTGTGTGTG	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	1/44			chr17	TogoVar
SDR16C5_chr8_56295005_56325175	56310296	G G	GAGGAGGA others(19): Show GAGGAGGAGGAAGGAGGAGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp2 HG00733.hp2 others(18): Show HG00140.hp2 HG00639.hp2 HG00733.hp2 HG01070.hp1 HG01109.hp1 HG01175.hp1 HG01192.hp2 HG01261.hp1 HG01515.hp2 HG02004.hp2 HG02129.hp2 HG02735.hp2 HG03239.hp1 HG03834.hp1 HG03834.hp2 HG04184.hp2 NA19006.hp1 NA19012.hp1 NA19054.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0019 a0001c0001t0002 a0001c0001t0007 a0001c0001t0019	a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0032 others(12): Show a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0032 a0001c0001t0002g0040 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0128 a0001c0001t0002g0131 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0136 a0001c0001t0002g0169 a0001c0001t0007g0129 a0001c0001t0007g0135 a0001c0001t0019g0132	21	398	0.0528	26	c.466 others(43): Show c.466-1270_466-1269insTCCTCCTCCTCCTCCTTCCTCCTCCT	SDR16C5	ENSG00000170786.13	transcript	ENST00000303749.8	protein_coding	3/6			chr8	TogoVar
SDR42E2_chr16_22157506_22196751	22173903	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02630.hp2 NA18944.hp2 others(1): Show HG01358.hp2 HG02630.hp2 NA18944.hp2 NA19089.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0010 a0001c0001t0001 a0003c0003t0010	a0001c0001t0001g0098 a0001c0001t0001g0130 a0001c0001t0001g0158 others(1): Show a0001c0001t0001g0098 a0001c0001t0001g0130 a0001c0001t0001g0158 a0003c0003t0010g0139	4	356	0.0112	26	c.589 others(43): Show c.589+1573_589+1574insATATATATATATATATATATATATAT	SDR42E2	ENSG00000183921.8	transcript	ENST00000602312.3	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SEC11A_chr15_84664544_84721139	84699855	G G	GGACTCCT others(19): Show GGACTCCTGAGGATGGAAAAACAACCA	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0031 a0001c0001t0003g0031	1	320	0.0031	26	c.52- others(41): Show c.52-8237_52-8212dupTGGTTGTTTTTCCATCCTCAGGAGTC	SEC11A	ENSG00000140612.14	transcript	ENST00000268220.12	protein_coding	1/5			chr15	TogoVar
SEC16B_chr1_177923788_177975058	177947771	A A	AGGTGAGG others(19): Show AGGTGAGGGGAGGGACAGGGAGGGGAG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0177 a0001c0006t0001g0177	1	408	0.0025	26	c.166 others(41): Show c.1663+53_1663+54insCTCCCCTCCCTGTCCCTCCCCTCACC	SEC16B	ENSG00000120341.19	transcript	ENST00000308284.11	protein_coding	13/25			chr1	TogoVar
SEC16B_chr1_177923788_177975058	177965400	G G	GGTGTGTG others(19): Show GGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0256 a0001c0005t0001g0256	1	408	0.0025	26	c.413 others(41): Show c.413-234_413-233insACACACACACACACACACACACACAC	SEC16B	ENSG00000120341.19	transcript	ENST00000308284.11	protein_coding	3/25			chr1	TogoVar
SEC22A_chr3_123196943_123279136	123220867	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01496.hp1 NA18946.hp2 others(1): Show HG01175.hp2 HG01496.hp1 NA18946.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0112 a0001c0001t0002g0153 a0001c0001t0002g0334 others(1): Show a0001c0001t0002g0112 a0001c0001t0002g0153 a0001c0001t0002g0334 a0001c0001t0004g0010	4	340	0.0118	26	c.183 others(43): Show c.183-2679_183-2678insTATATATATATATATATATATATATA	SEC22A	ENSG00000121542.12	transcript	ENST00000492595.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
SEC24A_chr5_134643785_134732909	134699301	C C	CGTTTTTT others(19): Show CGTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0307 a0001c0001t0008g0307	1	318	0.0031	26	c.226 others(45): Show c.2266+1244_2266+1245insGTTTTTTTTTTTTTTTTTTTTTTTTT	SEC24A	ENSG00000113615.13	transcript	ENST00000398844.7	protein_coding	15/22			chr5	TogoVar
SEC24A_chr5_134643785_134732909	134699301	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0021 a0004c0005t0001g0021	1	318	0.0031	26	c.226 others(45): Show c.2266+1257_2266+1258insTTTTTTTTTTTTTTTTTTTTTTTTTT	SEC24A	ENSG00000113615.13	transcript	ENST00000398844.7	protein_coding	15/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
SEC24B_chr4_109428815_109545896	109482979	T T	TATATACA others(19): Show TATATACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0106 a0001c0002t0004g0106	1	222	0.0045	26	c.116 others(45): Show c.1165+1199_1165+1200insTATACACACACACACACACACACACA	SEC24B	ENSG00000138802.11	transcript	ENST00000265175.5	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEC24B_chr4_109428815_109545896	109482979	T T	TATATATA others(19): Show TATATATACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0126 a0005c0011t0001g0126	1	222	0.0045	26	c.116 others(45): Show c.1165+1199_1165+1200insTATATACACACACACACACACACACA	SEC24B	ENSG00000138802.11	transcript	ENST00000265175.5	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEC24B_chr4_109428815_109545896	109482979	T T	TATATATA others(19): Show TATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02738.hp1 HG03704.hp2 HG01106.hp1 HG02738.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0164 a0001c0001t0001g0187 a0001c0001t0001g0114 a0001c0001t0001g0164 a0001c0001t0001g0187	3	222	0.0135	26	c.116 others(45): Show c.1165+1199_1165+1200insTATATATATATATATATACACACACA	SEC24B	ENSG00000138802.11	transcript	ENST00000265175.5	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEC24B_chr4_109428815_109545896	109482979	T T	TATATATA others(19): Show TATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01167.hp1 NA19004.hp1 NA19004.hp2 HG01167.hp1 NA19004.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0124 a0001c0001t0001g0218 a0001c0001t0001g0006 a0001c0001t0001g0124 a0001c0001t0001g0218	3	222	0.0135	26	c.116 others(45): Show c.1165+1199_1165+1200insTATATATATATATATATATACACACA	SEC24B	ENSG00000138802.11	transcript	ENST00000265175.5	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEC24B_chr4_109428815_109545896	109483003	C C	CACACACA others(19): Show CACACACACACACATACACACACACAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 NA19240.hp1 HG02647.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0047 a0001c0002t0003g0048 a0001c0002t0003g0047 a0001c0002t0003g0048	2	222	0.0090	26	c.116 others(45): Show c.1165+1223_1165+1224insCACACACACACATACACACACACATA	SEC24B	ENSG00000138802.11	transcript	ENST00000265175.5	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEC24D_chr4_118717823_118841126	118810137	T T	TGTGTGTG others(19): Show TGTGTGTGTGTGTGTGTGTGTGTGTGG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0168 a0001c0002t0001g0168	1	300	0.0033	26	c.802 others(43): Show c.802-4184_802-4183insCCACACACACACACACACACACACAC	SEC24D	ENSG00000150961.15	transcript	ENST00000280551.11	protein_coding	6/22			chr4	TogoVar
SEC31A_chr4_82813509_82896153	82841442	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01496.hp2 HG02074.hp2 others(3): Show HG01261.hp2 HG01496.hp2 HG02074.hp2 HG03239.hp1 HG04184.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0138 a0001c0001t0001g0161 others(3): Show a0001c0001t0001g0023 a0001c0001t0001g0138 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0189	6	328	0.0183	26	c.296 others(43): Show c.2968+672_2968+697dupTATATATATATATATATATATATATA	SEC31A	ENSG00000138674.17	transcript	ENST00000395310.7	protein_coding	22/26			chr4	TogoVar
SEC31A_chr4_82813509_82896153	82841467	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA19065.hp1 NA18968.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0153 a0001c0001t0001g0146 a0001c0001t0001g0153	2	328	0.0061	26	c.296 others(43): Show c.2968+672_2968+673insGTATATATATATATATATATATATAT	SEC31A	ENSG00000138674.17	transcript	ENST00000395310.7	protein_coding	22/26			chr4	TogoVar
SEC31B_chr10_100481647_100524861	100493994	C C	CAAGGGAG others(19): Show CAAGGGAGGGAAGAAAGGGAGGGAGGA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03471.hp2 NA18906.hp1 HG02723.hp1 HG03471.hp2 NA18906.hp1	a0005 a0016 a0005 a0016	a0005c0011 a0016c0024 a0005c0011 a0016c0024	a0005c0011t0003 a0016c0024t0003 a0005c0011t0003 a0016c0024t0003	a0005c0011t0003g0203 a0005c0011t0003g0204 a0016c0024t0003g0202 a0005c0011t0003g0203 a0005c0011t0003g0204 a0016c0024t0003g0202	3	298	0.0101	26	c.247 others(45): Show c.2472+1365_2472+1390dupTCCTCCCTCCCTTTCTTCCCTCCCTT	SEC31B	ENSG00000075826.17	transcript	ENST00000370345.8	protein_coding	19/25			chr10	TogoVar
SEC63_chr6_107862756_107963208	107863571	C C	CGCGCGCG others(19): Show CGCGCGCGCGCGCGCGCGCGCGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0079 a0001c0001t0003g0079	1	332	0.0030	26	c.81 others(37): Show c.8132_*8133insACACACGCGCGCGCGCGCGCGCGCGC	SEC63	ENSG00000025796.14	transcript	ENST00000369002.9	protein_coding		4184		chr6	TogoVar
SECISBP2L_chr15_48983638_49051446	49010124	G G	GACACACA others(19): Show GACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0219 a0001c0003t0002g0219	1	378	0.0027	26	c.186 others(43): Show c.1865-772_1865-747dupGTGTGTGTGTGTGTGTGTGTGTGTGT	SECISBP2L	ENSG00000138593.9	transcript	ENST00000559471.6	protein_coding	13/17			chr15	TogoVar
SEL1L2_chr20_13844247_13995614	13939035	G G	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02145.hp2 NA19011.hp2 others(1): Show HG00735.hp2 HG02145.hp2 NA19011.hp2 NA19240.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0010 a0001c0001 a0007c0010	a0001c0001t0001 a0007c0010t0001 a0001c0001t0001 a0007c0010t0001	a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0131 others(1): Show a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0131 a0007c0010t0001g0215	4	324	0.0124	26	c.115 others(43): Show c.115-7265_115-7264insAAAAAAAAAAAAAAAAAAAAAAAAAA	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13939040	G G	GGTTTTTT others(19): Show GGTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA19056.hp2 HG02132.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0028 a0001c0001t0002g0019 a0001c0001t0002g0028	2	324	0.0062	26	c.115 others(43): Show c.115-7270_115-7269insAAAAAAAAAAAAAAAAAAAAAAAAAC	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13983023	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02027.hp2 HG02083.hp1 others(10): Show HG00735.hp2 HG02027.hp2 HG02083.hp1 HG02148.hp1 HG02622.hp1 HG02809.hp2 HG03471.hp1 HG03831.hp2 NA18971.hp2 NA18978.hp1 NA18988.hp1 NA19000.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0011 a0001c0001 a0001c0003 a0001c0011	a0001c0001t0001 a0001c0003t0001 a0001c0011t0001 a0001c0001t0001 a0001c0003t0001 a0001c0011t0001	a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0111 others(10): Show a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0119 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0003t0001g0079 a0001c0011t0001g0134 a0001c0011t0001g0135	13	324	0.0401	26	c.58+ others(41): Show c.58+7453_58+7454insTTTTTTTTTTTTTTTTTTTTTTTTTT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	1/19			chr20	TogoVar
SELENBP1_chr1_151359304_151377705	151367355	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp2 HG00642.hp1 others(71): Show HG00408.hp1 HG00597.hp2 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp2 HG01169.hp1 HG01255.hp2 HG01256.hp1 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01943.hp1 HG01981.hp2 HG01993.hp1 HG02083.hp2 HG02135.hp2 HG02145.hp1 HG02165.hp1 HG02258.hp2 HG02280.hp1 HG02300.hp1 HG02717.hp1 HG02717.hp2 HG02886.hp1 HG02896.hp1 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG04184.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA18940.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18956.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18971.hp2 NA18983.hp1 NA18995.hp1 NA19002.hp1 NA19002.hp2 NA19006.hp1 NA19012.hp1 NA19043.hp1 NA19054.hp2 NA19066.hp1 NA19067.hp2 NA19086.hp1 NA20300.hp1	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0008 a0011	a0001c0001 a0001c0002 a0001c0006 others(5): Show a0001c0001 a0001c0002 a0001c0006 a0001c0015 a0002c0003 a0006c0012 a0008c0010 a0011c0007	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0001c0006t0001 a0001c0015t0001 a0002c0003t0001 a0006c0012t0001 a0008c0010t0001 a0011c0007t0001	a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0012 others(35): Show a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0098 a0001c0001t0001g0119 a0001c0001t0001g0130 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0183 a0001c0001t0001g0203 a0001c0001t0001g0226 a0001c0001t0005g0231 a0001c0002t0001g0176 a0001c0006t0001g0161 a0001c0015t0001g0209 a0002c0003t0001g0083 a0006c0012t0001g0085 a0008c0010t0001g0099 a0011c0007t0001g0082	74	438	0.1690	26	c.482 others(41): Show c.482-452_482-451insCTTTTCTTTTTTTTTTTTTTTTTTTT	SELENBP1	ENSG00000143416.21	transcript	ENST00000368868.10	protein_coding	5/11			chr1	TogoVar
SELENBP1_chr1_151359304_151377705	151367355	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAGAAAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	438	0.0023	26	c.482 others(41): Show c.482-452_482-451insCTTTTCTTTTTTCTTTTTTTTTTTTT	SELENBP1	ENSG00000143416.21	transcript	ENST00000368868.10	protein_coding	5/11			chr1	TogoVar
SELENOI_chr2_26341143_26400885	26381198	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0267 a0001c0001t0005g0267	1	334	0.0030	26	c.683 others(43): Show c.683-2095_683-2070dupTTTTTTTTTTTTTTTTTTTTTTTTTT	SELENOI	ENSG00000138018.19	transcript	ENST00000260585.12	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SELENON_chr1_25795193_25823221	25819429	T T	TGAGAGAG others(19): Show TGAGAGAGAGAGAGAGAGAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0220 a0001c0004t0006g0220	1	392	0.0026	26	c.37 others(37): Show c.3711_*3712insGAGAGAGAGAGAGAGAGAGAGAGAGA	SELENON	ENSG00000162430.18	transcript	ENST00000361547.7	protein_coding		1209	WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS	chr1	TogoVar
SELENON_chr1_25795193_25823221	25819429	T T	TGTGAGAG others(19): Show TGTGAGAGAGAGAGAGAGAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02922.hp2 HG03041.hp2 HG02809.hp1 HG02922.hp2 HG03041.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0012 a0001c0007t0020 a0001c0007t0012 a0001c0007t0020	a0001c0007t0012g0219 a0001c0007t0020g0048 a0001c0007t0012g0219 a0001c0007t0020g0048	3	392	0.0077	26	c.37 others(37): Show c.3711_*3712insGTGAGAGAGAGAGAGAGAGAGAGAGA	SELENON	ENSG00000162430.18	transcript	ENST00000361547.7	protein_coding		1209	WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS	chr1	TogoVar
SELENON_chr1_25795193_25823221	25819429	T T	TGTGTGTG others(19): Show TGTGTGTGAGAGAGAGAGAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0141 a0001c0004t0001g0141	1	392	0.0026	26	c.37 others(37): Show c.3711_*3712insGTGTGTGAGAGAGAGAGAGAGAGAGA	SELENON	ENSG00000162430.18	transcript	ENST00000361547.7	protein_coding		1209	WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS	chr1	TogoVar
SELENOT_chr3_150598321_150635436	150631202	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0176 a0001c0002t0002g0176	1	380	0.0026	26	c.35 others(37): Show c.3573_*3574insAAAAAAAAAAAAAAAAAAAAAAAAAA	SELENOT	ENSG00000198843.14	transcript	ENST00000471696.6	protein_coding		767		chr3	TogoVar
SEMA3A_chr7_83950777_84199789	83965666	A A	ATATATAT others(19): Show ATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	276	0.0036	26	c.171 others(45): Show c.1718-2320_1718-2319insAAAATATATATATATATATATATATA	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	15/16			chr7	TogoVar
SEMA3C_chr7_80737538_80924051	80746718	G G	GGTGTGTG others(19): Show GGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	244	0.0041	26	c.184 others(45): Show c.1843-1437_1843-1412dupACACACACACACACACACACACACAC	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	17/17			chr7	TogoVar
SEMA3D_chr7_84990553_85192056	85066913	C C	CACACACA others(19): Show CACACACACACACACACAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03471.hp2 HG01243.hp1 HG03471.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0018 a0002c0007t0018	a0002c0007t0018g0120 a0002c0007t0018g0121 a0002c0007t0018g0120 a0002c0007t0018g0121	2	266	0.0075	26	c.589 others(43): Show c.589+1277_589+1278insCTCTCTCTCTGTGTGTGTGTGTGTGT	SEMA3D	ENSG00000153993.14	transcript	ENST00000284136.11	protein_coding	7/18			chr7	TogoVar
SEMA3D_chr7_84990553_85192056	85066913	C C	CATACACA others(19): Show CATACACACACACAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0161 a0002c0002t0006g0161	1	266	0.0038	26	c.589 others(43): Show c.589+1277_589+1278insCTCTCTCTCTCTCTGTGTGTGTGTAT	SEMA3D	ENSG00000153993.14	transcript	ENST00000284136.11	protein_coding	7/18			chr7	TogoVar

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