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
SDSL_chr12_113417380_113443276	113421991	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03225.hp1 HG03139.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	2	252	0.0079	15	c.-50 others(24): Show c.-508_-507insAAAAAAAAAAAAAAA	SDSL	ENSG00000139410.15	transcript	ENST00000403593.9	protein_coding		388		chr12	TogoVar
SDS_chr12_113387445_113408887	113396340	T T	TTTTCCTT others(8): Show TTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	341	0.0029	15	c.653 others(30): Show c.653+810_653+824dupGGAAAGGAAAGGAAA	SDS	ENSG00000135094.11	transcript	ENST00000257549.9	protein_coding	6/7			chr12	TogoVar
SEC14L2_chr22_30392018_30430303	30411742	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0169 a0001c0003t0003g0169	1	13	0.0769	15	c.664 others(32): Show c.664+1068_664+1082dupAAAAAAAAAAAAAAA	SEC14L2	ENSG00000100003.18	transcript	ENST00000615189.5	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEC16B_chr1_177923788_177975058	177955497	C C	CTCTCCAA others(8): Show CTCTCCAAGACGAAAA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0072 a0001c0004t0001g0072	1	406	0.0025	15	c.136 others(34): Show c.1366-1122_1366-1121insTTTTCGTCTTGGAGA	SEC16B	ENSG00000120341.19	transcript	ENST00000308284.11	protein_coding	10/25			chr1	TogoVar
SEC22A_chr3_123196943_123279136	123257995	G G	GAAAAAAA others(8): Show GAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02129.hp1 HG02451.hp1 others(8): Show HG02056.hp2 HG02129.hp1 HG02451.hp1 HG02886.hp2 NA18954.hp2 NA18957.hp1 NA18959.hp1 NA18967.hp2 NA19007.hp2 NA19055.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0044 a0001c0001t0003g0045 others(7): Show a0001c0001t0003g0004 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0057 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0062	11	261	0.0421	15	c.658 others(32): Show c.658-1516_658-1515insAAAAAAAAAAAAAAA	SEC22A	ENSG00000121542.12	transcript	ENST00000492595.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
SEC22A_chr3_123196943_123279136	123260131	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0100 a0001c0001t0009g0100	1	28	0.0357	15	c.723 others(30): Show c.723+566_723+580dupAAAAAAAAAAAAAAA	SEC22A	ENSG00000121542.12	transcript	ENST00000492595.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
SEC23A_chr14_39026919_39108235	39059278	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02615.hp1 HG01243.hp2 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0123 a0001c0001t0001g0125	2	112	0.0179	15	c.150 others(34): Show c.1505+2472_1505+2486dupTTTTTTTTTTTTTTT	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	13/19			chr14	TogoVar
SEC24A_chr5_134643785_134732909	134705090	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0313 a0001c0001t0007g0313	1	185	0.0054	15	c.244 others(32): Show c.2441-236_2441-235insATATATATATATATT	SEC24A	ENSG00000113615.13	transcript	ENST00000398844.7	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
SEC24D_chr4_118717823_118841126	118751176	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0016 a0016	a0016c0022 a0016c0022	a0016c0022t0001 a0016c0022t0001	a0016c0022t0001g0292 a0016c0022t0001g0292	1	195	0.0051	15	c.170 others(32): Show c.1707+805_1707+819dupAAAAAAAAAAAAAAA	SEC24D	ENSG00000150961.15	transcript	ENST00000280551.11	protein_coding	13/22			chr4	TogoVar
SEC24D_chr4_118717823_118841126	118810074	C C	CTTGTGTG others(8): Show CTTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0124 a0001c0002t0001g0124	1	101	0.0099	15	c.802 others(32): Show c.802-4121_802-4120insCACACACACACACAA	SEC24D	ENSG00000150961.15	transcript	ENST00000280551.11	protein_coding	6/22			chr4	TogoVar
SEC31A_chr4_82813509_82896153	82841442	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0245 a0001c0002t0001g0245	1	36	0.0278	15	c.296 others(32): Show c.2968+697_2968+698insTATATATATATATAT	SEC31A	ENSG00000138674.17	transcript	ENST00000395310.7	protein_coding	22/26			chr4	TogoVar
SEC31A_chr4_82813509_82896153	82846366	C C	CATAATAA others(8): Show CATAATAATAATAATA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01167.hp1 HG01243.hp1 others(11): Show HG00438.hp2 HG01167.hp1 HG01243.hp1 HG01943.hp2 HG02040.hp1 HG02155.hp1 HG02602.hp1 HG03098.hp2 HG04184.hp2 NA18952.hp2 NA18965.hp2 NA18990.hp2 NA19003.hp2 NA19056.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0008c0017	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0008c0017t0001	a0001c0001t0001g0096 a0001c0001t0001g0114 a0001c0001t0001g0167 others(11): Show a0001c0001t0001g0096 a0001c0001t0001g0114 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0311 a0001c0002t0001g0226 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0264 a0001c0002t0001g0275 a0001c0002t0001g0285 a0001c0005t0001g0318 a0008c0017t0001g0210	14	26	0.5385	15	c.250 others(34): Show c.2503-1872_2503-1858dupTATTATTATTATTAT	SEC31A	ENSG00000138674.17	transcript	ENST00000395310.7	protein_coding	20/26			chr4	TogoVar
SEC31A_chr4_82813509_82896153	82846366	C C	CATCATAA others(8): Show CATCATAATAATAATA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0314 a0002c0004t0001g0314	1	13	0.0769	15	c.250 others(34): Show c.2503-1858_2503-1857insTATTATTATTATGAT	SEC31A	ENSG00000138674.17	transcript	ENST00000395310.7	protein_coding	20/26			chr4	TogoVar
SEC61A2_chr10_12124677_12170407	12127557	G G	GCCCCCCC others(8): Show GCCCCCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0035 a0001c0002t0001g0035	1	80	0.0125	15	c.-22 others(26): Show c.-2231_-2230insCCCCCCCCCCCCCCC	SEC61A2	ENSG00000065665.21	transcript	ENST00000298428.14	protein_coding		2119		chr10	TogoVar
SEC61G_chr7_54747253_54764211	54760999	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	125	0.0080	15	c.-18 others(26): Show c.-1849_-1848insTTTTTTTTTTTTTTT	SEC61G	ENSG00000132432.14	transcript	ENST00000352861.9	protein_coding		1789		chr7	TogoVar
SEC62_chr3_169961807_170003373	170001194	C C	CTTTTGTA others(8): Show CTTTTGTAAGGTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0087 a0001c0001t0010g0087	1	332	0.0030	15	c.81 others(26): Show c.8131_*8132insTTTTGTAAGGTTTTT	SEC62	ENSG00000008952.17	transcript	ENST00000337002.9	protein_coding		2822		chr3	TogoVar
SEC63_chr6_107862756_107963208	107934220	C C	CAGTCTGG others(8): Show CAGTCTGGAAAGTGAG	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	330	0.0030	15	c.125 others(32): Show c.125-4721_125-4707dupCTCACTTTCCAGACT	SEC63	ENSG00000025796.14	transcript	ENST00000369002.9	protein_coding	1/20			chr6	TogoVar
SEC63_chr6_107862756_107963208	107962454	A A	ATTTAATC others(8): Show ATTTAATCATAATTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	330	0.0030	15	c.-44 others(26): Show c.-4446_-4445insCAAATTATGATTAAA	SEC63	ENSG00000025796.14	transcript	ENST00000369002.9	protein_coding		4247		chr6	TogoVar
SEH1L_chr18_12943011_12992531	12962459	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18963.hp1 NA18965.hp2 others(4): Show NA18949.hp1 NA18963.hp1 NA18965.hp2 NA18982.hp1 NA18984.hp1 NA19057.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0028 a0001c0001t0001g0036 others(4): Show a0001c0001t0001g0021 a0001c0001t0001g0028 a0001c0001t0001g0036 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0102 a0001c0001t0001g0179	7	107	0.0654	15	c.310 others(30): Show c.310-689_310-675dupTTTTTTTTTTTTTTT	SEH1L	ENSG00000085415.16	transcript	ENST00000399892.7	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
SEL1L2_chr20_13844247_13995614	13848313	G G	GAGAAGAA others(8): Show GAGAAGAAGAAGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG01074.hp1 HG01169.hp1 others(17): Show HG00621.hp2 HG01074.hp1 HG01169.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG02027.hp1 HG02027.hp2 HG02451.hp2 HG02602.hp1 HG03239.hp1 HG06807.hp1 NA18960.hp1 NA18962.hp2 NA19004.hp1 NA19010.hp2 NA19012.hp1 NA19067.hp1 NA19090.hp1 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0012 a0001c0001 a0001c0003 a0003c0012	a0001c0001t0001 a0001c0003t0001 a0003c0012t0002 a0001c0001t0001 a0001c0003t0001 a0003c0012t0002	a0001c0001t0001g0076 a0001c0001t0001g0087 a0001c0001t0001g0101 others(17): Show a0001c0001t0001g0076 a0001c0001t0001g0087 a0001c0001t0001g0101 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0138 a0001c0001t0001g0217 a0001c0001t0001g0225 a0001c0001t0001g0230 a0001c0001t0001g0237 a0001c0001t0001g0241 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0272 a0001c0001t0001g0297 a0001c0003t0001g0097 a0001c0003t0001g0098 a0003c0012t0002g0055 a0003c0012t0002g0056	20	208	0.0962	15	c.11 others(26): Show c.1171_*1172insTCTTCTTCTTCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		933		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848319	G G	GAGAAGAA others(8): Show GAGAAGAAGAAGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp1 NA19011.hp1 NA18942.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0038 a0001c0001t0002g0016 a0001c0001t0002g0038	2	51	0.0392	15	c.11 others(26): Show c.1165_*1166insTCTTCTTCTTCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		927		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848319	G G	GAGAAGGA others(8): Show GAGAAGGAGAAGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0317 a0001c0001t0001g0317	1	50	0.0200	15	c.11 others(26): Show c.1165_*1166insTCTTCTTCTCCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		927		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848319	G G	GAGAAGGA others(8): Show GAGAAGGAGAAGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	50	0.0200	15	c.11 others(26): Show c.1165_*1166insTCTCCTTCTCCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		927		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848356	A A	AGAAGAAG others(8): Show AGAAGAAGAAGAAGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	317	0.0032	15	c.11 others(26): Show c.1128_*1129insGACTTCTTCTTCTTC	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		890		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848546	A A	AAGAAGAA others(8): Show AAGAAGAAGAAGAAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01109.hp1 HG02071.hp1 others(17): Show HG01081.hp2 HG01109.hp1 HG02071.hp1 HG02083.hp2 HG02109.hp2 HG02258.hp1 HG02922.hp2 HG03041.hp2 HG03453.hp1 HG03688.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG04184.hp2 NA18942.hp1 NA18997.hp2 NA19011.hp1 NA19079.hp1 NA19082.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0084 a0001c0001t0001g0102 a0001c0001t0001g0112 others(17): Show a0001c0001t0001g0084 a0001c0001t0001g0102 a0001c0001t0001g0112 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0224 a0001c0001t0001g0254 a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0016 a0001c0001t0002g0018 a0001c0001t0002g0025 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0042 a0001c0001t0002g0044	20	85	0.2353	15	c.93 others(24): Show c.938_*939insGCTTCTTCTTCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		700		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848555	G G	GAGAAGAA others(8): Show GAGAAGAAGAAGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02818.hp1 HG02258.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0218 a0001c0004t0001g0311 a0001c0001t0001g0218 a0001c0004t0001g0311	2	37	0.0541	15	c.92 others(24): Show c.929_*930insTCTTCTTCTTCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		691		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13934375	T T	TATATATA others(8): Show TATATATATATATTCC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG03491.hp1 HG00280.hp2 HG03491.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0008 a0003c0005t0002g0036 a0003c0005t0002g0008 a0003c0005t0002g0036	2	314	0.0064	15	c.115 others(32): Show c.115-2605_115-2604insGGAATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13934390	T T	TATATATA others(8): Show TATATATATATATTCC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0322 a0001c0001t0001g0322	1	284	0.0035	15	c.115 others(32): Show c.115-2620_115-2619insGGAATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13934403	C C	CATATATA others(8): Show CATATATATATTCCAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01167.hp1 HG01169.hp2 others(2): Show HG00738.hp2 HG01167.hp1 HG01169.hp2 HG01884.hp2 HG03017.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0009 a0001c0001 a0002c0002 a0002c0009	a0001c0001t0001 a0002c0002t0003 a0002c0009t0003 a0001c0001t0001 a0002c0002t0003 a0002c0009t0003	a0001c0001t0001g0144 a0002c0002t0003g0246 a0002c0002t0003g0268 others(2): Show a0001c0001t0001g0144 a0002c0002t0003g0246 a0002c0002t0003g0268 a0002c0009t0003g0257 a0002c0009t0003g0273	5	219	0.0228	15	c.115 others(32): Show c.115-2633_115-2632insATGGAATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13934405	T T	TATATATA others(8): Show TATATATATATATTCC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02523.hp2 NA18747.hp1 others(5): Show HG02027.hp1 HG02523.hp2 NA18747.hp1 NA18946.hp2 NA18951.hp1 NA19057.hp2 NA19066.hp1 NA19067.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0140 a0001c0001t0001g0225 a0001c0001t0001g0230 others(5): Show a0001c0001t0001g0140 a0001c0001t0001g0225 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0248 a0001c0001t0001g0251 a0002c0002t0003g0240 a0002c0002t0003g0249	8	316	0.0253	15	c.115 others(32): Show c.115-2635_115-2634insGGAATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13939035	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	248	0.0040	15	c.115 others(32): Show c.115-7265_115-7264insAAAAAAAAAAAAAAA	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13983023	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00733.hp1 HG01069.hp1 others(18): Show HG00597.hp2 HG00733.hp1 HG01069.hp1 HG01071.hp2 HG01243.hp1 HG01358.hp2 HG01978.hp1 HG01993.hp1 HG02132.hp1 HG02572.hp2 HG02683.hp1 HG03098.hp1 HG03209.hp2 HG03516.hp1 HG03516.hp2 NA18954.hp1 NA18982.hp1 NA18988.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0003 a0001c0001t0001 a0001c0003t0001 a0002c0002t0003	a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0190 others(17): Show a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0236 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0003t0001g0001 a0001c0003t0001g0287 a0002c0002t0003g0195	21	28	0.7500	15	c.58+ others(30): Show c.58+7439_58+7453dupTTTTTTTTTTTTTTT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	1/19			chr20	TogoVar
SEL1L3_chr4_25742433_25867988	25755251	T T	TTTTTATT others(8): Show TTTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0247 a0001c0001t0002g0247	1	178	0.0056	15	c.325 others(34): Show c.3259+2268_3259+2282dupTAAAATAAAATAAAA	SEL1L3	ENSG00000091490.11	transcript	ENST00000399878.8	protein_coding	23/23			chr4	TogoVar
SELENBP1_chr1_151359304_151377705	151360296	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG01070.hp2 HG01071.hp1 others(30): Show HG00140.hp2 HG01070.hp2 HG01071.hp1 HG01099.hp2 HG01256.hp2 HG01358.hp2 HG01884.hp2 HG01934.hp2 HG01993.hp1 HG01993.hp2 HG02300.hp1 HG02300.hp2 HG03669.hp2 HG03710.hp2 NA18939.hp2 NA18946.hp2 NA18950.hp2 NA18952.hp2 NA18954.hp2 NA18971.hp1 NA18977.hp1 NA18986.hp1 NA19001.hp1 NA19006.hp1 NA19006.hp2 NA19057.hp1 NA19057.hp2 NA19063.hp2 NA19068.hp2 NA19072.hp2 NA19077.hp1 NA19081.hp1 NA19091.hp1	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0001c0011 a0003c0004 others(1): Show a0001c0001 a0001c0011 a0003c0004 a0008c0007	a0001c0001t0001 a0001c0011t0001 a0003c0004t0001 others(1): Show a0001c0001t0001 a0001c0011t0001 a0003c0004t0001 a0008c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(14): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0027 a0001c0001t0001g0059 a0001c0001t0001g0080 a0001c0001t0001g0089 a0001c0001t0001g0103 a0001c0001t0001g0177 a0001c0001t0001g0189 a0001c0001t0001g0195 a0001c0001t0001g0207 a0001c0011t0001g0093 a0003c0004t0001g0114 a0008c0007t0001g0082	33	217	0.1521	15	c.42 others(26): Show c.4246_*4247insAAAAAAAAAAAAAAA	SELENBP1	ENSG00000143416.21	transcript	ENST00000368868.10	protein_coding		4007		chr1	TogoVar
SELENOI_chr2_26341143_26400885	26381198	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02717.hp1 HG03486.hp1 HG02622.hp1 HG02717.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0259 a0001c0001t0005g0276 a0001c0001t0005g0287 a0001c0001t0005g0259 a0001c0001t0005g0276 a0001c0001t0005g0287	3	24	0.1250	15	c.683 others(32): Show c.683-2084_683-2070dupTTTTTTTTTTTTTTT	SELENOI	ENSG00000138018.19	transcript	ENST00000260585.12	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SELENOI_chr2_26341143_26400885	26398037	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0012 a0001c0002t0001g0012	1	12	0.0833	15	c.89 others(26): Show c.8934_*8935insTTTTTTTTTTTTTTT	SELENOI	ENSG00000138018.19	transcript	ENST00000260585.12	protein_coding		2153		chr2	TogoVar
SELENOM_chr22_31099777_31112568	31101809	T T	TTTGACCT others(8): Show TTTGACCTTCCTCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02738.hp1 NA20752.hp2 HG02615.hp1 HG02738.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	3	374	0.0080	15	c.31 others(26): Show c.3146_*3160dupCAGGAGGAAGGTCAA	SELENOM	ENSG00000198832.11	transcript	ENST00000400299.6	protein_coding		2967		chr22	TogoVar
SELENON_chr1_25795193_25823221	25812564	A A	ACACACAC others(8): Show ACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	60	0.0167	15	c.128 others(32): Show c.1282-123_1282-122insCACACACACACACAC	SELENON	ENSG00000162430.18	transcript	ENST00000361547.7	protein_coding	9/12		WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS	chr1	TogoVar
SELENOT_chr3_150598321_150635436	150617838	T T	TGTTTGGT others(8): Show TGTTTGGTTTGGTTTG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02683.hp2 HG03654.hp1 others(2): Show HG00741.hp1 HG02683.hp2 HG03654.hp1 HG04204.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 others(2): Show a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0002g0156	5	66	0.0758	15	c.138 others(32): Show c.138-4537_138-4523dupGGTTTGGTTTGGTTT	SELENOT	ENSG00000198843.14	transcript	ENST00000471696.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SELENOV_chr19_39510139_39525675	39517964	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02080.hp2 HG02647.hp2 others(2): Show HG01070.hp2 HG02080.hp2 HG02647.hp2 HG03209.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0121 a0001c0001t0001g0188 a0001c0001t0001g0197 others(2): Show a0001c0001t0001g0121 a0001c0001t0001g0188 a0001c0001t0001g0197 a0001c0001t0001g0219 a0001c0002t0001g0091	5	165	0.0303	15	c.810 others(30): Show c.810-631_810-617dupAAAAAAAAAAAAAAA	SELENOV	ENSG00000186838.15	transcript	ENST00000335426.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
SELENOV_chr19_39510139_39525675	39517991	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00558.hp2 others(22): Show HG00280.hp2 HG00408.hp2 HG00558.hp2 HG01070.hp1 HG01081.hp2 HG01975.hp2 HG01978.hp1 HG02040.hp1 HG02129.hp2 HG02293.hp2 HG02735.hp2 HG03669.hp1 NA18747.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18953.hp1 NA18953.hp2 NA18960.hp2 NA18972.hp2 NA18975.hp2 NA18992.hp2 NA18993.hp2 NA19076.hp1 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0013 a0001c0002t0001g0022 a0001c0002t0001g0031 others(10): Show a0001c0002t0001g0013 a0001c0002t0001g0022 a0001c0002t0001g0031 a0001c0002t0001g0057 a0001c0002t0001g0060 a0001c0002t0001g0145 a0001c0002t0001g0154 a0001c0002t0001g0162 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0171 a0001c0002t0001g0189 a0001c0002t0003g0036	25	336	0.0744	15	c.810 others(30): Show c.810-617_810-616insAAAAAAAAAAAAAAG	SELENOV	ENSG00000186838.15	transcript	ENST00000335426.9	protein_coding	1/5			chr19	TogoVar
SELL_chr1_169685667_169716620	169692220	G G	GTTTAATT others(8): Show GTTTAATTTAATTTAA	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0073 a0002c0002t0001g0073	1	430	0.0023	15	c.110 others(32): Show c.1101-419_1101-418insTTAAATTAAATTAAA	SELL	ENSG00000188404.10	transcript	ENST00000236147.6	protein_coding	8/8			chr1	TogoVar
SELL_chr1_169685667_169716620	169692225	T T	TTTTAATT others(8): Show TTTTAATTTAATTTAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02809.hp1 HG03098.hp2 others(3): Show HG02559.hp1 HG02809.hp1 HG03098.hp2 HG03453.hp1 NA18974.hp2 NA19240.hp1	a0002 a0004 a0005 a0002 a0004 a0005	a0002c0002 a0004c0005 a0005c0007 a0002c0002 a0004c0005 a0005c0007	a0002c0002t0011 a0004c0005t0005 a0005c0007t0005 a0002c0002t0011 a0004c0005t0005 a0005c0007t0005	a0002c0002t0011g0168 a0004c0005t0005g0036 a0005c0007t0005g0022 a0002c0002t0011g0168 a0004c0005t0005g0036 a0005c0007t0005g0022	6	323	0.0186	15	c.110 others(32): Show c.1101-438_1101-424dupTTAAATTAAATTAAA	SELL	ENSG00000188404.10	transcript	ENST00000236147.6	protein_coding	8/8			chr1	TogoVar
SELP_chr1_169583849_169635124	169592506	G G	GGAGTGAA others(8): Show GGAGTGAACTTAGAGA	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	324	0.0031	15	c.240 others(34): Show c.2408-1051_2408-1050insTCTCTAAGTTCACTC	SELP	ENSG00000174175.17	transcript	ENST00000263686.11	protein_coding	14/16			chr1	TogoVar
SEMA3A_chr7_83950777_84199789	83965666	A A	ATATATAT others(8): Show ATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0023 a0001c0001t0003g0023	1	121	0.0083	15	c.171 others(34): Show c.1718-2320_1718-2319insAAATATATATATATA	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	15/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	83965666	A A	ATATATAT others(8): Show ATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA18991.hp2 HG02922.hp1 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0241 a0001c0001t0001g0144 a0001c0001t0001g0241	2	122	0.0164	15	c.171 others(34): Show c.1718-2320_1718-2319insAAAAATATATATATA	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	15/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	83965666	A A	ATATATAT others(8): Show ATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01928.hp1 NA19010.hp1 HG01928.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0060 a0001c0001t0003g0102 a0001c0001t0003g0060 a0001c0001t0003g0102	2	122	0.0164	15	c.171 others(34): Show c.1718-2320_1718-2319insAAAAAAATATATATA	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	15/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	83965666	A A	ATATATTT others(8): Show ATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0038 a0001c0002t0002g0038	1	121	0.0083	15	c.171 others(34): Show c.1718-2320_1718-2319insAAAAAAAAAAATATA	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	15/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	83965667	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0010 a0002c0006t0010	a0002c0006t0010g0199 a0002c0006t0010g0199	1	264	0.0038	15	c.171 others(34): Show c.1718-2321_1718-2320insTATATATATATATAT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	15/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	83980612	A A	AAAAAAAC others(8): Show AAAAAAACAAACAAAC	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0059 a0001c0001t0004g0059	1	273	0.0037	15	c.165 others(32): Show c.1652+708_1652+709insGTTTGTTTGTTTTTT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	14/16			chr7	TogoVar

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