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
SDK1_chr7_3296252_4274000	4074856	T T	TACTTTCT others(17): Show TACTTTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01109.hp1 HG01175.hp1 others(2): Show HG00738.hp1 HG01109.hp1 HG01175.hp1 HG03710.hp1 HG03710.hp2	a0002 a0007 a0010 a0002 a0007 a0010	a0002c0055 a0007c0006 a0007c0045 others(1): Show a0002c0055 a0007c0006 a0007c0045 a0010c0080	a0002c0055t0002 a0007c0006t0001 a0007c0006t0012 others(2): Show a0002c0055t0002 a0007c0006t0001 a0007c0006t0012 a0007c0045t0001 a0010c0080t0054	a0002c0055t0002g0101 a0007c0006t0001g0036 a0007c0006t0012g0115 others(2): Show a0002c0055t0002g0101 a0007c0006t0001g0036 a0007c0006t0012g0115 a0007c0045t0001g0020 a0010c0080t0054g0073	5	116	0.0431	24	c.301 others(43): Show c.3011-2142_3011-2141insACTTTCTCTCTCTCTCTCTCTCTC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	20/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	4083546	C C	CTCCCTCC others(17): Show CTCCCTCCCTCCCTCCCTCCCTTCA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01081.hp2 HG01123.hp2 others(21): Show HG00639.hp1 HG01081.hp2 HG01123.hp2 HG01167.hp1 HG01243.hp1 HG01891.hp2 HG02145.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02886.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03453.hp1 HG03453.hp2 HG03491.hp2 HG03516.hp1 HG03710.hp2 NA20129.hp1	a0001 a0002 a0005 others(10): Show a0001 a0002 a0005 a0006 a0007 a0009 a0010 a0013 a0015 a0022 a0023 a0024 a0029	a0001c0010 a0001c0011 a0001c0038 others(20): Show a0001c0010 a0001c0011 a0001c0038 a0001c0093 a0001c0096 a0002c0012 a0002c0013 a0002c0031 a0002c0044 a0005c0058 a0005c0059 a0005c0066 a0006c0078 a0007c0045 a0009c0019 a0009c0020 a0010c0083 a0013c0071 a0015c0075 a0022c0064 a0023c0069 a0024c0095 a0029c0090	a0001c0010t0002 a0001c0011t0008 a0001c0038t0002 others(20): Show a0001c0010t0002 a0001c0011t0008 a0001c0038t0002 a0001c0093t0048 a0001c0096t0029 a0002c0012t0016 a0002c0013t0064 a0002c0031t0034 a0002c0044t0035 a0005c0058t0013 a0005c0059t0012 a0005c0066t0037 a0006c0078t0003 a0007c0045t0001 a0009c0019t0074 a0009c0020t0070 a0010c0083t0001 a0013c0071t0026 a0015c0075t0042 a0022c0064t0007 a0023c0069t0014 a0024c0095t0025 a0029c0090t0047	a0001c0010t0002g0085 a0001c0011t0008g0028 a0001c0038t0002g0077 others(21): Show a0001c0010t0002g0085 a0001c0011t0008g0028 a0001c0038t0002g0077 a0001c0093t0048g0057 a0001c0096t0029g0050 a0002c0012t0016g0002 a0002c0012t0016g0003 a0002c0013t0064g0026 a0002c0031t0034g0083 a0002c0044t0035g0079 a0005c0058t0013g0045 a0005c0059t0012g0063 a0005c0066t0037g0065 a0006c0078t0003g0099 a0007c0045t0001g0020 a0009c0019t0074g0009 a0009c0020t0070g0008 a0010c0083t0001g0076 a0013c0071t0026g0112 a0015c0075t0042g0081 a0022c0064t0007g0106 a0023c0069t0014g0014 a0024c0095t0025g0049 a0029c0090t0047g0056	24	116	0.2069	24	c.332 others(43): Show c.3324+3975_3324+3976insCCCTCCCTTCATCCCTCCCTCCCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	22/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK2_chr17_73329384_73649445	73355159	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01981.hp1 HG01981.hp2 others(2): Show HG01175.hp2 HG01981.hp1 HG01981.hp2 HG02300.hp2 HG02738.hp2	a0001 a0002 a0010 others(1): Show a0001 a0002 a0010 a0018	a0001c0023 a0002c0031 a0010c0100 others(1): Show a0001c0023 a0002c0031 a0010c0100 a0018c0033	a0001c0023t0017 a0002c0031t0006 a0010c0100t0013 others(1): Show a0001c0023t0017 a0002c0031t0006 a0010c0100t0013 a0018c0033t0042	a0001c0023t0017g0189 a0002c0031t0006g0121 a0002c0031t0006g0157 others(2): Show a0001c0023t0017g0189 a0002c0031t0006g0121 a0002c0031t0006g0157 a0010c0100t0013g0133 a0018c0033t0042g0159	5	204	0.0245	24	c.559 others(43): Show c.5594-2523_5594-2522insATATATATATATATATATATATAT	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73355174	A A	ATATATAT others(17): Show ATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03098.hp2 HG02818.hp2 HG03098.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0016 a0001c0025t0016	a0001c0025t0016g0055 a0001c0025t0016g0180 a0001c0025t0016g0055 a0001c0025t0016g0180	2	204	0.0098	24	c.559 others(43): Show c.5594-2538_5594-2537insAAAAAAAAAAAAAAAATATATATA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73405517	T T	TATATATA others(17): Show TATATATATATATATATATAAATAA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0079 a0002c0079	a0002c0079t0002 a0002c0079t0002	a0002c0079t0002g0200 a0002c0079t0002g0200	1	204	0.0049	24	c.248 others(43): Show c.2485-3377_2485-3376insTTATTTATATATATATATATATAT	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	18/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73509902	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01884.hp1 HG02976.hp1 others(8): Show HG01169.hp1 HG01884.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03239.hp1 HG04115.hp1 NA18948.hp1 NA19010.hp1 NA19088.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0009	a0001c0004 a0001c0005 a0001c0007 others(7): Show a0001c0004 a0001c0005 a0001c0007 a0001c0010 a0002c0058 a0002c0102 a0003c0008 a0003c0022 a0003c0044 a0009c0021	a0001c0004t0001 a0001c0004t0010 a0001c0005t0017 others(8): Show a0001c0004t0001 a0001c0004t0010 a0001c0005t0017 a0001c0007t0030 a0001c0010t0010 a0002c0058t0063 a0002c0102t0005 a0003c0008t0087 a0003c0022t0004 a0003c0044t0098 a0009c0021t0004	a0001c0004t0001g0110 a0001c0004t0010g0021 a0001c0005t0017g0105 others(8): Show a0001c0004t0001g0110 a0001c0004t0010g0021 a0001c0005t0017g0105 a0001c0007t0030g0103 a0001c0010t0010g0131 a0002c0058t0063g0144 a0002c0102t0005g0076 a0003c0008t0087g0008 a0003c0022t0004g0086 a0003c0044t0098g0184 a0009c0021t0004g0194	11	204	0.0539	24	c.65- others(39): Show c.65-2306_65-2305insTTTTTTTTTTTTTTTTTTTTTTTT	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	1/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73545099	G G	GCACACAC others(17): Show GCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02559.hp1 HG02559.hp2 others(2): Show HG01884.hp2 HG02559.hp1 HG02559.hp2 HG02897.hp2 HG03098.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0003 a0001c0025 a0001c0084 others(2): Show a0001c0003 a0001c0025 a0001c0084 a0002c0028 a0005c0065	a0001c0003t0061 a0001c0025t0016 a0001c0084t0088 others(2): Show a0001c0003t0061 a0001c0025t0016 a0001c0084t0088 a0002c0028t0060 a0005c0065t0013	a0001c0003t0061g0041 a0001c0025t0016g0180 a0001c0084t0088g0015 others(2): Show a0001c0003t0061g0041 a0001c0025t0016g0180 a0001c0084t0088g0015 a0002c0028t0060g0018 a0005c0065t0013g0066	5	204	0.0245	24	c.65- others(41): Show c.65-37526_65-37503dupTGTGTGTGTGTGTGTGTGTGTGTG	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	1/44			chr17	TogoVar
SDR42E2_chr16_22157506_22196751	22173903	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01993.hp1 NA18955.hp1 others(3): Show HG00423.hp2 HG01993.hp1 NA18955.hp1 NA18983.hp2 NA18989.hp1 NA19085.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0070 a0001c0001t0001g0095 a0001c0001t0001g0096 others(3): Show a0001c0001t0001g0070 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0129 a0003c0003t0001g0216	6	356	0.0169	24	c.589 others(41): Show c.589+1573_589+1574insATATATATATATATATATATATAT	SDR42E2	ENSG00000183921.8	transcript	ENST00000602312.3	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SDR42E2_chr16_22157506_22196751	22173905	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	356	0.0028	24	c.589 others(41): Show c.589+1575_589+1598dupTATATATATATATATATATATATA	SDR42E2	ENSG00000183921.8	transcript	ENST00000602312.3	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SDR42E2_chr16_22157506_22196751	22186836	T T	TCCCTCCC others(17): Show TCCCTCCCTTCCTACCTCTCCCCAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00423.hp2 others(153): Show HG00140.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00741.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01123.hp1 HG01167.hp1 HG01175.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01358.hp2 HG01496.hp2 HG01516.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01993.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02257.hp1 HG02280.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp2 HG02818.hp2 HG02895.hp1 HG02922.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp2 NA18522.hp2 NA18747.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18946.hp2 NA18948.hp1 NA18950.hp1 NA18951.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18959.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18965.hp1 NA18966.hp2 NA18967.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp2 NA18983.hp2 NA18986.hp1 NA18989.hp1 NA18989.hp2 NA18992.hp1 NA18993.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19065.hp2 NA19068.hp2 NA19070.hp1 NA19074.hp2 NA19079.hp1 NA19084.hp2 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19091.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp1	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0008 a0009 a0010	a0001c0001 a0002c0002 a0002c0004 others(4): Show a0001c0001 a0002c0002 a0002c0004 a0005c0008 a0008c0016 a0009c0012 a0010c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0011 a0001c0001t0018 a0001c0001t0020 a0002c0002t0001 a0002c0002t0015 a0002c0004t0003 a0005c0008t0006 a0008c0016t0001 a0009c0012t0013 a0010c0013t0001	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0011 others(127): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0214 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0002g0242 a0001c0001t0002g0254 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0009g0205 a0001c0001t0011g0002 a0001c0001t0018g0243 a0001c0001t0020g0075 a0002c0002t0001g0163 a0002c0002t0001g0166 a0002c0002t0001g0174 a0002c0002t0001g0183 a0002c0002t0001g0190 a0002c0002t0015g0167 a0002c0004t0003g0035 a0002c0004t0003g0269 a0002c0004t0003g0270 a0005c0008t0006g0059 a0008c0016t0001g0132 a0009c0012t0013g0255 a0010c0013t0001g0220	156	356	0.4382	24	c.101 others(39): Show c.1014+44_1014+67dupCCTCCCTTCCTACCTCTCCCCACC	SDR42E2	ENSG00000183921.8	transcript	ENST00000602312.3	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SDS_chr12_113387445_113408887	113396544	C C	CCCTTCCT others(17): Show CCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	344	0.0029	24	c.653 others(39): Show c.653+597_653+620dupAAGGAAGGAAGGAAGGAAGGAAGG	SDS	ENSG00000135094.11	transcript	ENST00000257549.9	protein_coding	6/7			chr12	TogoVar
SEC14L4_chr22_30483902_30510695	30501846	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0108 a0001c0003t0003g0108	1	424	0.0024	24	c.130 others(41): Show c.130+1807_130+1830dupATATATATATATATATATATATAT	SEC14L4	ENSG00000133488.15	transcript	ENST00000255858.12	protein_coding	2/11			chr22	TogoVar
SEC16B_chr1_177923788_177975058	177965400	G G	GGTGTGTG others(17): Show GGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02258.hp2 HG02965.hp1 others(5): Show HG01884.hp1 HG02258.hp2 HG02965.hp1 HG02976.hp2 HG03139.hp1 HG03834.hp1 NA18906.hp1 NA18960.hp1	a0001 a0016 a0019 a0001 a0016 a0019	a0001c0005 a0001c0017 a0001c0036 others(2): Show a0001c0005 a0001c0017 a0001c0036 a0016c0024 a0019c0028	a0001c0005t0001 a0001c0017t0001 a0001c0036t0001 others(2): Show a0001c0005t0001 a0001c0017t0001 a0001c0036t0001 a0016c0024t0010 a0019c0028t0005	a0001c0005t0001g0257 a0001c0005t0001g0258 a0001c0017t0001g0060 others(4): Show a0001c0005t0001g0257 a0001c0005t0001g0258 a0001c0017t0001g0060 a0001c0036t0001g0120 a0016c0024t0010g0053 a0016c0024t0010g0061 a0019c0028t0005g0021	8	408	0.0196	24	c.413 others(39): Show c.413-234_413-233insACACACACACACACACACACACAC	SEC16B	ENSG00000120341.19	transcript	ENST00000308284.11	protein_coding	3/25			chr1	TogoVar
SEC22A_chr3_123196943_123279136	123220867	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01358.hp1 HG03927.hp1 others(3): Show HG00280.hp2 HG01358.hp1 HG03927.hp1 NA18944.hp2 NA19058.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0092 others(3): Show a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0004g0006 a0001c0001t0004g0009	6	340	0.0177	24	c.183 others(41): Show c.183-2679_183-2678insTATATATATATATATATATATATA	SEC22A	ENSG00000121542.12	transcript	ENST00000492595.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
SEC22A_chr3_123196943_123279136	123273808	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0053 a0001c0001t0020g0053	1	340	0.0029	24	c.20 others(35): Show c.2092_*2093insAAAAAAAAAAAAAAAAAAAAAAAA	SEC22A	ENSG00000121542.12	transcript	ENST00000492595.6	protein_coding	7/7	2093	INFO_REALIGN_3_PRIME	chr3	TogoVar
SEC22B_chr1_120145898_120181520	120178958	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00738.hp1 HG01081.hp2 HG00323.hp1 HG00738.hp1 HG01081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0022 a0001c0002t0002g0002 a0001c0002t0002g0022	3	380	0.0079	24	c.-25 others(35): Show c.-2578_-2577insGTGTGTGTGTGTGTGTGTGTGTGT	SEC22B	ENSG00000265808.4	transcript	ENST00000578049.4	protein_coding		2439		chr1	TogoVar
SEC23IP_chr10_119887730_119949657	119890573	C C	CAATGGAC others(17): Show CAATGGACCAATAAGCACTCTGTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00423.hp1 others(47): Show HG00099.hp1 HG00140.hp2 HG00423.hp1 HG00544.hp2 HG01069.hp1 HG01167.hp2 HG02027.hp2 HG02040.hp2 HG02074.hp2 HG02132.hp2 HG02155.hp1 HG02165.hp2 HG02602.hp2 HG03491.hp1 HG03492.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03927.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp2 NA18946.hp2 NA18947.hp2 NA18952.hp2 NA18961.hp1 NA18963.hp2 NA18966.hp2 NA18967.hp2 NA18973.hp1 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18980.hp1 NA18986.hp1 NA18990.hp1 NA18992.hp1 NA18993.hp2 NA18995.hp1 NA19002.hp1 NA19007.hp2 NA19011.hp2 NA19012.hp1 NA19057.hp1 NA19059.hp2 NA19062.hp2 NA19065.hp2 NA19070.hp1 NA19090.hp1 NA20905.hp2	a0001 a0001	a0001c0003 a0001c0014 a0001c0003 a0001c0014	a0001c0003t0004 a0001c0003t0014 a0001c0003t0032 others(1): Show a0001c0003t0004 a0001c0003t0014 a0001c0003t0032 a0001c0014t0004	a0001c0003t0004g0001 a0001c0003t0004g0006 a0001c0003t0004g0011 others(30): Show a0001c0003t0004g0001 a0001c0003t0004g0006 a0001c0003t0004g0011 a0001c0003t0004g0037 a0001c0003t0004g0038 a0001c0003t0004g0292 a0001c0003t0004g0293 a0001c0003t0004g0294 a0001c0003t0004g0295 a0001c0003t0004g0296 a0001c0003t0004g0297 a0001c0003t0004g0298 a0001c0003t0004g0299 a0001c0003t0004g0300 a0001c0003t0004g0301 a0001c0003t0004g0302 a0001c0003t0004g0303 a0001c0003t0004g0304 a0001c0003t0004g0305 a0001c0003t0004g0306 a0001c0003t0004g0307 a0001c0003t0004g0308 a0001c0003t0004g0310 a0001c0003t0004g0311 a0001c0003t0004g0312 a0001c0003t0004g0313 a0001c0003t0004g0314 a0001c0003t0004g0315 a0001c0003t0004g0317 a0001c0003t0014g0290 a0001c0003t0014g0291 a0001c0003t0032g0316 a0001c0014t0004g0309	50	400	0.1250	24	c.-22 others(35): Show c.-2210_-2209insAATGGACCAATAAGCACTCTGTAA	SEC23IP	ENSG00000107651.15	transcript	ENST00000369075.8	protein_coding		2156		chr10	TogoVar
SEC24A_chr5_134643785_134732909	134688667	T T	TTTTATTT others(17): Show TTTTATTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18991.hp1 NA19000.hp2 others(2): Show NA18981.hp2 NA18991.hp1 NA19000.hp2 NA19004.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0006 a0001c0001t0008 a0001c0007t0006 a0001c0001t0006 a0001c0001t0008 a0001c0007t0006	a0001c0001t0006g0048 a0001c0001t0006g0050 a0001c0001t0006g0052 others(2): Show a0001c0001t0006g0048 a0001c0001t0006g0050 a0001c0001t0006g0052 a0001c0001t0008g0306 a0001c0007t0006g0051	5	318	0.0157	24	c.172 others(41): Show c.1723+375_1723+398dupTATTTATTTATTTATTTATTTATT	SEC24A	ENSG00000113615.13	transcript	ENST00000398844.7	protein_coding	11/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
SEC24B_chr4_109428815_109545896	109482979	T T	TATATATA others(17): Show TATATATATATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0145 a0001c0001t0007g0145	1	222	0.0045	24	c.116 others(43): Show c.1165+1199_1165+1200insTATATATATACACACACACACACA	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(17): Show TATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	222	0.0045	24	c.116 others(43): Show c.1165+1199_1165+1200insTATATATATATATACACACACACA	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(17): Show TATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02071.hp1 HG00673.hp2 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0211 a0001c0001t0001g0161 a0001c0001t0001g0211	2	222	0.0090	24	c.116 others(43): Show c.1165+1199_1165+1200insTATATATATATATATACACACACA	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(17): Show TATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG03669.hp1 HG00558.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0147 a0001c0001t0001g0005 a0001c0001t0001g0147	2	222	0.0090	24	c.116 others(43): Show c.1165+1199_1165+1200insTATATATATATATATATACACACA	SEC24B	ENSG00000138802.11	transcript	ENST00000265175.5	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEC24B_chr4_109428815_109545896	109483040	A A	ATATTTAT others(17): Show ATATTTATGTATTTTTATATATATG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02055.hp2 HG00738.hp1 HG02055.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0008 a0001c0008t0008	a0001c0008t0008g0219 a0001c0008t0008g0220 a0001c0008t0008g0219 a0001c0008t0008g0220	2	222	0.0090	24	c.116 others(43): Show c.1165+1262_1165+1263insTTATGTATTTTTATATATATGTAT	SEC24B	ENSG00000138802.11	transcript	ENST00000265175.5	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEC24D_chr4_118717823_118841126	118804885	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	300	0.0033	24	c.913 others(39): Show c.913+934_913+957dupGTGTGTGTGTGTGTGTGTGTGTGT	SEC24D	ENSG00000150961.15	transcript	ENST00000280551.11	protein_coding	7/22			chr4	TogoVar
SEC31A_chr4_82813509_82896153	82841440	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	328	0.0031	24	c.296 others(41): Show c.2968+699_2968+700insTATATATATATATATATATATATA	SEC31A	ENSG00000138674.17	transcript	ENST00000395310.7	protein_coding	22/26			chr4	TogoVar
SEC31A_chr4_82813509_82896153	82841442	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00438.hp2 others(18): Show HG00408.hp2 HG00423.hp1 HG00438.hp2 HG01346.hp2 HG01433.hp2 HG01981.hp2 HG02738.hp1 HG04199.hp1 NA18612.hp1 NA18949.hp2 NA18951.hp1 NA18954.hp1 NA18965.hp1 NA18985.hp2 NA18990.hp1 NA18991.hp2 NA18999.hp2 NA19004.hp1 NA19010.hp1 NA19058.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0020 a0001c0001 a0001c0020	a0001c0001t0001 a0001c0020t0001 a0001c0001t0001 a0001c0020t0001	a0001c0001t0001g0021 a0001c0001t0001g0120 a0001c0001t0001g0121 others(18): Show a0001c0001t0001g0021 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0147 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0186 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0020t0001g0238	21	328	0.0640	24	c.296 others(41): Show c.2968+674_2968+697dupTATATATATATATATATATATATA	SEC31A	ENSG00000138674.17	transcript	ENST00000395310.7	protein_coding	22/26			chr4	TogoVar
SEC61G_chr7_54747253_54764211	54760999	T T	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	406	0.0025	24	c.-18 others(35): Show c.-1849_-1848insTTTTTTTTTTTTTTTTTTTTTTTT	SEC61G	ENSG00000132432.14	transcript	ENST00000352861.9	protein_coding		1789		chr7	TogoVar
SEC63_chr6_107862756_107963208	107863559	T T	TGCGCGCG others(17): Show TGCGCGCGCGCGCGCGCGCGCGCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp1 NA19067.hp2 NA20752.hp2 HG03710.hp1 NA19067.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0118 a0001c0001t0001g0169 a0001c0001t0003g0077 a0001c0001t0001g0118 a0001c0001t0001g0169 a0001c0001t0003g0077	3	332	0.0090	24	c.81 others(35): Show c.8144_*8145insGCGCGCGCGCGCGCGCGCGCGCGC	SEC63	ENSG00000025796.14	transcript	ENST00000369002.9	protein_coding		4196		chr6	TogoVar
SECISBP2L_chr15_48983638_49051446	49010124	G G	GACACACA others(17): Show GACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02074.hp2 HG02717.hp2 others(4): Show HG00140.hp2 HG02074.hp2 HG02717.hp2 HG03195.hp2 HG03540.hp1 NA18522.hp1 NA18945.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0007 a0002c0002t0002 a0002c0002t0004 a0001c0003t0007 a0002c0002t0002 a0002c0002t0004	a0001c0003t0007g0016 a0001c0003t0007g0196 a0002c0002t0002g0106 others(3): Show a0001c0003t0007g0016 a0001c0003t0007g0196 a0002c0002t0002g0106 a0002c0002t0004g0110 a0002c0002t0004g0132 a0002c0002t0004g0133	7	378	0.0185	24	c.186 others(41): Show c.1865-770_1865-747dupGTGTGTGTGTGTGTGTGTGTGTGT	SECISBP2L	ENSG00000138593.9	transcript	ENST00000559471.6	protein_coding	13/17			chr15	TogoVar
SEL1L2_chr20_13844247_13995614	13848313	G G	GAGAAGAA others(17): Show GAGAAGAAGAAGAAGAAGAAGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00597.hp1 HG01071.hp1 others(12): Show HG00558.hp2 HG00597.hp1 HG01071.hp1 HG01361.hp2 HG01516.hp2 HG01978.hp2 HG01981.hp2 HG02083.hp1 HG02630.hp2 NA18943.hp2 NA18959.hp2 NA19005.hp2 NA19010.hp1 NA19067.hp2 NA19091.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0003c0005t0002	a0001c0001t0001g0081 a0001c0001t0001g0091 a0001c0001t0001g0110 others(12): Show a0001c0001t0001g0081 a0001c0001t0001g0091 a0001c0001t0001g0110 a0001c0001t0001g0132 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0242 a0001c0001t0001g0262 a0001c0001t0001g0271 a0001c0001t0001g0279 a0001c0001t0001g0292 a0001c0001t0001g0322 a0001c0001t0002g0062 a0001c0001t0005g0320 a0003c0005t0002g0011	15	324	0.0463	24	c.11 others(35): Show c.1171_*1172insTCTTCTTCTTCTTCTTCTTCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		933		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848319	G G	GAGAAGAA others(17): Show GAGAAGAAGAAGAAGAAGAAGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 NA19043.hp1 NA19056.hp2 HG03688.hp1 NA19043.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0107 a0001c0001t0002g0002 a0001c0001t0002g0019 a0001c0001t0001g0107 a0001c0001t0002g0002 a0001c0001t0002g0019	3	324	0.0093	24	c.11 others(35): Show c.1165_*1166insTCTTCTTCTTCTTCTTCTTCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		927		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848319	G G	GAGAAGAA others(17): Show GAGAAGAAGAAGAAGAAGAGGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	324	0.0031	24	c.11 others(35): Show c.1165_*1166insTCTTCCTCTTCTTCTTCTTCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		927		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848357	G G	GAAGAAGA others(17): Show GAAGAAGAAGAAGAAGAAGAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp1 NA19057.hp2 NA18971.hp1 NA19057.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0245 a0002c0002t0003g0249 a0002c0002t0003g0245 a0002c0002t0003g0249	2	324	0.0062	24	c.11 others(35): Show c.1127_*1128insTTTCTTCTTCTTCTTCTTCTTCTT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		889		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848555	G G	GAGAAGAA others(17): Show GAGAAGAAGAAGAAGAAGAAGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 NA19043.hp1 HG03041.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0238 a0001c0001t0001g0107 a0001c0001t0001g0238	2	324	0.0062	24	c.92 others(33): Show c.929_*930insTCTTCTTCTTCTTCTTCTTCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		691		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13939035	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	324	0.0031	24	c.115 others(41): Show c.115-7265_115-7264insAAAAAAAAAAAAAAAAAAAAAAAA	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13939040	G G	GGTTTTTT others(17): Show GGTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02280.hp2 HG02647.hp2 others(3): Show HG02145.hp1 HG02280.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp2 HG02895.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0014 a0001c0001 a0008c0014	a0001c0001t0001 a0001c0001t0002 a0008c0014t0002 a0001c0001t0001 a0001c0001t0002 a0008c0014t0002	a0001c0001t0001g0321 a0001c0001t0002g0058 a0001c0001t0002g0059 others(3): Show a0001c0001t0001g0321 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0008c0014t0002g0063	6	324	0.0185	24	c.115 others(41): Show c.115-7270_115-7269insAAAAAAAAAAAAAAAAAAAAAAAC	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13983023	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01167.hp2 HG02165.hp1 others(10): Show HG00099.hp1 HG01167.hp2 HG02165.hp1 HG02523.hp1 HG02965.hp1 HG03195.hp1 NA18942.hp2 NA18959.hp2 NA18995.hp2 NA18997.hp1 NA19012.hp2 NA19030.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 others(10): Show a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0004t0001g0137	13	324	0.0401	24	c.58+ others(39): Show c.58+7430_58+7453dupTTTTTTTTTTTTTTTTTTTTTTTT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	1/19			chr20	TogoVar
SEL1L_chr14_81466547_81538853	81510514	C C	CTATATAT others(17): Show CTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	360	0.0028	24	c.341 others(41): Show c.341-4274_341-4273insTATATATATATATATATATATATA	SEL1L	ENSG00000071537.14	transcript	ENST00000336735.9	protein_coding	3/20			chr14	TogoVar
SEL1L_chr14_81466547_81538853	81510514	C C	CTCTCTCT others(17): Show CTCTCTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	360	0.0028	24	c.341 others(41): Show c.341-4274_341-4273insTATATATATATAGAGAGAGAGAGA	SEL1L	ENSG00000071537.14	transcript	ENST00000336735.9	protein_coding	3/20			chr14	TogoVar
SELENBP1_chr1_151359304_151377705	151367355	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG03688.hp2 HG03927.hp2 others(5): Show HG01978.hp1 HG03688.hp2 HG03927.hp2 NA18941.hp1 NA19064.hp1 NA19070.hp2 NA19085.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0013 a0001c0001t0001g0117 a0001c0001t0001g0129 others(1): Show a0001c0001t0001g0013 a0001c0001t0001g0117 a0001c0001t0001g0129 a0001c0001t0002g0063	8	438	0.0183	24	c.482 others(39): Show c.482-452_482-451insCTTTTCTTTTTTTTTTTTTTTTTT	SELENBP1	ENSG00000143416.21	transcript	ENST00000368868.10	protein_coding	5/11			chr1	TogoVar
SELENOM_chr22_31099777_31112568	31107583	G G	GCCCCGCC others(17): Show GCCCCGCCCCCGCCCCCGCCCCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 NA18988.hp2 HG03139.hp1 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	378	0.0053	24	c.-79 others(31): Show c.-79_-78insGCGGGGGCGGGGGCGGGGGCGGGG	SELENOM	ENSG00000198832.11	transcript	ENST00000400299.6	protein_coding		16		chr22	TogoVar
SELENON_chr1_25795193_25823221	25819429	T T	TGTGTGTG others(17): Show TGTGTGTGTGAGAGAGAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0092 a0001c0004t0001g0092	1	392	0.0026	24	c.37 others(35): Show c.3711_*3712insGTGTGTGTGAGAGAGAGAGAGAGA	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(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp2 HG02486.hp2 NA18969.hp2 others(1): Show HG01258.hp2 HG02486.hp2 NA18969.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0009 a0001c0001t0002g0156 others(1): Show a0001c0001t0002g0002 a0001c0001t0002g0009 a0001c0001t0002g0156 a0001c0001t0002g0174	4	380	0.0105	24	c.35 others(35): Show c.3573_*3574insAAAAAAAAAAAAAAAAAAAAAAAA	SELENOT	ENSG00000198843.14	transcript	ENST00000471696.6	protein_coding		767		chr3	TogoVar
SEMA3A_chr7_83950777_84199789	83965666	A A	ATATATAT others(17): Show ATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp2 NA18957.hp1 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0264 a0001c0001t0003g0029 a0001c0001t0001g0264 a0001c0001t0003g0029	2	276	0.0073	24	c.171 others(43): Show c.1718-2320_1718-2319insAATATATATATATATATATATATA	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	15/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84095358	C C	CACACACA others(17): Show CACACACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0078 a0001c0007t0001g0078	1	276	0.0036	24	c.453 others(43): Show c.453+15111_453+15112insATATATATATATATATATGTGTGT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84095358	C C	CACATATA others(17): Show CACATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA18966.hp2 HG02258.hp1 NA18966.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0006 a0001c0004t0005 a0001c0003t0006 a0001c0004t0005	a0001c0003t0006g0083 a0001c0004t0005g0114 a0001c0003t0006g0083 a0001c0004t0005g0114	2	276	0.0073	24	c.453 others(43): Show c.453+15111_453+15112insATATATATATATATATATATATGT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84195012	G G	GAGAGAGA others(17): Show GAGAGAGAGAGAGAGAGAGAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0165 a0001c0001t0009g0165	1	276	0.0036	24	c.-42 others(33): Show c.-427_-426insTTCTCTCTCTCTCTCTCTCTCTCT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding		224		chr7	TogoVar
SEMA3B_chr3_50264147_50282546	50272855	A A	AAATAATA others(17): Show AAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00597.hp1 HG02723.hp2 others(2): Show HG00558.hp1 HG00597.hp1 HG02723.hp2 NA19066.hp2 NA20300.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0016 a0001c0001 a0002c0002 a0005c0016	a0001c0001t0001 a0002c0002t0001 a0005c0016t0007 a0001c0001t0001 a0002c0002t0001 a0005c0016t0007	a0001c0001t0001g0058 a0001c0001t0001g0059 a0002c0002t0001g0086 others(2): Show a0001c0001t0001g0058 a0001c0001t0001g0059 a0002c0002t0001g0086 a0002c0002t0001g0087 a0005c0016t0007g0073	5	390	0.0128	24	c.665 others(39): Show c.665-440_665-417dupTAATAATAATAATAATAATAATAA	SEMA3B	ENSG00000012171.20	transcript	ENST00000616701.5	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
SEMA3B_chr3_50264147_50282546	50272879	T T	TAATAATA others(17): Show TAATAATAATAATAATAATAATAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG00597.hp2 others(32): Show HG00438.hp2 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG01081.hp2 HG01192.hp1 HG01255.hp1 HG01943.hp2 HG02015.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp2 HG02735.hp2 NA18943.hp1 NA18946.hp1 NA18955.hp2 NA18967.hp1 NA18983.hp2 NA18986.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18995.hp2 NA18999.hp2 NA19000.hp1 NA19011.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19067.hp2 NA19074.hp1 NA19074.hp2 NA19081.hp1 NA19084.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0004 a0002c0002t0001g0016 a0002c0002t0001g0040 others(5): Show a0002c0002t0001g0004 a0002c0002t0001g0016 a0002c0002t0001g0040 a0002c0002t0001g0079 a0002c0002t0001g0084 a0002c0002t0003g0004 a0002c0002t0003g0040 a0002c0002t0003g0078	35	390	0.0897	24	c.665 others(39): Show c.665-417_665-416insTAATAATAATAATAATAATAAAAA	SEMA3B	ENSG00000012171.20	transcript	ENST00000616701.5	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
SEMA3C_chr7_80737538_80924051	80746718	G G	GGTGTGTG others(17): Show GGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	244	0.0041	24	c.184 others(43): Show c.1843-1435_1843-1412dupACACACACACACACACACACACAC	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	17/17			chr7	TogoVar

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