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
RPSA2_chr19_23758004_23833868	23761901	A A	ATTCTTTC others(91): Show ATTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTC TCTCTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG01123.hp2 NA18970.hp2 HG00423.hp2 HG01123.hp2 NA18970.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0002 a0001c0001t0004 a0002c0002t0002	a0001c0001t0004g0001 a0001c0001t0004g0058 a0002c0002t0002g0065 a0001c0001t0004g0001 a0001c0001t0004g0058 a0002c0002t0002g0065	3	269	0.0112	98	c.-15 others(109): Show c.-1536_-1535insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTCTCTCTCTCTCTCTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCT	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1102		chr19	TogoVar
RPSA2_chr19_23758004_23833868	23761902	T T	TTCTTTCT others(91): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCT CTCTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0022 a0001c0001t0004g0022	1	358	0.0028	98	c.-15 others(109): Show c.-1535_-1534insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTCTCTCTCTCTCTCTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTC	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1101		chr19	TogoVar
RPSA2_chr19_23758004_23833868	23761922	T T	TCCTTCCT others(91): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0096 a0002c0002t0010g0096	1	251	0.0040	98	c.-15 others(109): Show c.-1515_-1514insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCC	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1081		chr19	TogoVar
RPSA2_chr19_23758004_23833868	23761922	T T	TCCTTCCT others(91): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp2 NA18950.hp2 HG03017.hp2 NA18950.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0073 a0002c0002t0002 a0002c0002t0073	a0002c0002t0002g0122 a0002c0002t0073g0162 a0002c0002t0002g0122 a0002c0002t0073g0162	2	252	0.0079	98	c.-15 others(109): Show c.-1515_-1514insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCC	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1081		chr19	TogoVar
RPSA2_chr19_23758004_23833868	23761922	T T	TCCTTCCT others(91): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0089 a0002c0002t0089	a0002c0002t0089g0132 a0002c0002t0089g0132	1	251	0.0040	98	c.-15 others(109): Show c.-1515_-1514insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCC	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1081		chr19	TogoVar
RPSA2_chr19_23758004_23833868	23761922	T T	TCCTTCCT others(91): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0033 a0007c0007t0033	a0007c0007t0033g0142 a0007c0007t0033g0142	1	251	0.0040	98	c.-15 others(109): Show c.-1515_-1514insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCT TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCC	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1081		chr19	TogoVar
RRAGB_chrX_55712749_55763774	55749288	C C	CCAGCCGC others(91): Show CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGTCCCCAGCCCGGC CAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0123	1	274	0.0036	98	c.517 others(115): Show c.517-1723_517-1722insCGCCCGGTCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGGTCAGTCCCCAGCCCGGCCAGCCGCCCCATCCGGGAGGG AGGTGGGGGGGTCAGCCCCC	RRAGB	ENSG00000083750.13	transcript	ENST00000374941.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
RSKR_chr17_28602963_28619185	28604056	A A	AGACGGGG others(91): Show AGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCTCCACCTCCCTCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 NA19240.hp1 HG03130.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0001g0001 a0001c0001t0002g0002	2	360	0.0056	98	c.64 others(109): Show c.6421_*6422insCGGGAGGGAGGTGGAGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGG CCAGCCGCCCCGTC	RSKR	ENSG00000167524.17	transcript	ENST00000301037.11	protein_coding		3906		chr17	TogoVar
RSKR_chr17_28602963_28619185	28604080	G G	GGGCTGAC others(91): Show GGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCTCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG03834.hp2 HG02723.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0003 a0001c0001t0007g0007 a0001c0001t0003g0003 a0001c0001t0007g0007	2	11	0.1818	98	c.63 others(109): Show c.6397_*6398insACCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGAGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGG TGGGGGGGTCAGCC	RSKR	ENSG00000167524.17	transcript	ENST00000301037.11	protein_coding		3882		chr17	TogoVar
RSKR_chr17_28602963_28619185	28604080	G G	GGGCTGAC others(91): Show GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp1 HG02683.hp1 HG02273.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	11	0.1818	98	c.63 others(109): Show c.6397_*6398insACCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCC	RSKR	ENSG00000167524.17	transcript	ENST00000301037.11	protein_coding		3882		chr17	TogoVar
RSKR_chr17_28602963_28619185	28604080	G G	GGGCTGAC others(91): Show GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCTCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(332): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0002c0007 a0003c0006 a0004c0008 a0005c0004 a0006c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(48): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0002t0004 a0001c0003t0001 a0001c0003t0003 a0002c0007t0001 a0003c0006t0017 a0004c0008t0002 a0005c0004t0003 a0006c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0023 others(61): Show a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0060 a0001c0001t0001g0067 a0001c0001t0002g0002 a0001c0001t0002g0028 a0001c0001t0002g0062 a0001c0001t0003g0003 a0001c0001t0003g0026 a0001c0001t0004g0004 a0001c0001t0005g0005 a0001c0001t0005g0025 a0001c0001t0005g0030 a0001c0001t0006g0006 a0001c0001t0007g0007 a0001c0001t0008g0008 a0001c0001t0009g0009 a0001c0001t0010g0011 a0001c0001t0010g0027 a0001c0001t0011g0010 a0001c0001t0012g0014 a0001c0001t0012g0029 a0001c0001t0013g0012 a0001c0001t0014g0013 a0001c0001t0015g0015 a0001c0001t0016g0016 a0001c0001t0017g0038 a0001c0001t0018g0018 a0001c0001t0019g0034 a0001c0001t0019g0066 a0001c0001t0020g0019 a0001c0001t0021g0020 a0001c0001t0022g0021 a0001c0001t0023g0022 a0001c0001t0024g0036 a0001c0001t0025g0037 a0001c0001t0026g0039 a0001c0001t0027g0040 a0001c0001t0028g0041 a0001c0001t0029g0042 a0001c0001t0030g0043 a0001c0001t0031g0044 a0001c0001t0032g0045 a0001c0001t0033g0046 a0001c0001t0034g0047 a0001c0001t0035g0048 a0001c0001t0036g0035 a0001c0001t0037g0049 a0001c0001t0038g0061 a0001c0001t0039g0050 a0001c0001t0040g0051 a0001c0001t0041g0054 a0001c0001t0042g0055 a0001c0001t0043g0056 a0001c0002t0004g0032 a0001c0003t0001g0058 a0001c0003t0003g0059 a0002c0007t0001g0057 a0003c0006t0017g0064 a0004c0008t0002g0065 a0005c0004t0003g0031 a0006c0005t0001g0052	335	344	0.9738	98	c.63 others(109): Show c.6397_*6398insACCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGAGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCC	RSKR	ENSG00000167524.17	transcript	ENST00000301037.11	protein_coding		3882		chr17	TogoVar
RSKR_chr17_28602963_28619185	28604087	C C	CCCCCCCA others(91): Show CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCTCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGTGGCTGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0007 a0001c0001t0007g0007	1	360	0.0028	98	c.63 others(109): Show c.6390_*6391insATCAGCCACCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGAGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGG	RSKR	ENSG00000167524.17	transcript	ENST00000301037.11	protein_coding		3875		chr17	TogoVar
RTN1_chr14_59590983_59875776	59750184	T T	TATATATA others(91): Show TATATATATTATAGATTATATTATATCTATAATATATAATATATATATTA TATCTATAATATATATTATCTATAATATATAATATATATATTATAGATA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0171 a0007c0009t0001g0171	1	133	0.0075	98	c.242 others(115): Show c.242-3704_242-3703insTATCTATAATATATATATTATATATTAT AGATAATATATATTATAGATATAATATATATATTATATATTATAGATATA ATATAATCTATAATATATAT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RUNDC3B_chr7_87623398_87837296	87626246	A A	ATTGTCAT others(91): Show ATTGTCATATATATGTGTCATATATATTGTCATATATATGTGTCATATAT GTGTCATATATATGTGTCATATATGTGTCATATATATGTGTCATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0117 a0001c0001t0006g0117	1	58	0.0172	98	c.-25 others(109): Show c.-2578_-2577insTTGTCATATATATGTGTCATATATATTGTCATAT ATATGTGTCATATATGTGTCATATATATGTGTCATATATGTGTCATATAT ATGTGTCATATATG	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2151		chr7	TogoVar
RYR2_chr1_237037184_237838988	237149659	G G	GTTATACA others(91): Show GTTATACATTACCACAATGTATTTGATTAGTTTAACTTTTATTTTGACTT CTCCGTTAATTTCATTGGAACATTAAGATATTTTATAGCTTATCATTGT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0004 a0001c0026t0004	a0001c0026t0004g0055 a0001c0026t0004g0055	1	100	0.0100	98	c.48+ others(117): Show c.48+107187_48+107188insTTTATACATTACCACAATGTATTTGA TTAGTTTAACTTTTATTTTGACTTCTCCGTTAATTTCATTGGAACATTAA GATATTTTATAGCTTATCATTG	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAA4_chr11_18226355_18241802	18230461	C C	CAAGAAAG others(91): Show CAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0074 a0001c0001t0006g0074	1	45	0.0222	98	c.10 others(109): Show c.1040_*1041insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTCTTTCTTTCTTTC TTTCTTTCTTTCTT	SAA4	ENSG00000148965.10	transcript	ENST00000278222.7	protein_coding		893		chr11	TogoVar
SARDH_chr9_133658560_133743352	133669212	C C	CTCCCTCT others(91): Show CTCCCTCTCCCCTTACCCTCCCTCTCCCTTACCCTCCCTCTCCCTTACCC TCCCTCTCCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCCCTCACCT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0004 a0004	a0004c0023 a0004c0023	a0004c0023t0001 a0004c0023t0001	a0004c0023t0001g0235 a0004c0023t0001g0235	1	218	0.0046	98	c.249 others(117): Show c.2495+1371_2495+1372insAGGTGAGGGAGAGGGAGGGTGAGGGG AGAGGGAGGGTGAGGGAGAGGGAGGGTAAGGGAGAGGGAGGGTAAGGGAG AGGGAGGGTAAGGGGAGAGGGA	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SCAMP1_chr5_78355617_78485739	78448093	T T	TCTCCCCC others(91): Show TCTCCCCCTCCTCTCCCCCTCCCCCTTCCCCTCTTCCACTCCTCCCTCCT CCCCGCTCCTCTCCCCTCCTCCTCCTTCCTCCTCCTTCCTCCCCTTTCC	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	332	0.0030	98	c.633 others(115): Show c.633-1840_633-1839insCTCCCCCTCCTCTCCCCCTCCCCCTTCC CCTCTTCCACTCCTCCCTCCTCCCCGCTCCTCTCCCCTCCTCCTCCTTCC TCCTCCTTCCTCCCCTTTCC	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8			chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78448100	T T	TCCTCTCC others(91): Show TCCTCTCCCCCCTCCCCCTTCCCCTCTTCCACTCCTCCCTCCTCCCCGCT CCTCTCCCCTCCTCCTCCTTCCTCCTCCTTCCTCCCCTTTCCTCCCCCC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02071.hp2 HG02055.hp1 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0017 a0001c0001t0002 a0001c0001t0017	a0001c0001t0002g0084 a0001c0001t0017g0158 a0001c0001t0002g0084 a0001c0001t0017g0158	2	140	0.0143	98	c.633 others(115): Show c.633-1833_633-1832insCCTCTCCCCCCTCCCCCTTCCCCTCTTC CACTCCTCCCTCCTCCCCGCTCCTCTCCCCTCCTCCTCCTTCCTCCTCCT TCCTCCCCTTTCCTCCCCCC	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8			chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78448100	T T	TCCTCTCC others(91): Show TCCTCTCCCCCTCCCCCCTTCCCCTCTTCCACTCCTCCCTCCTCCCCGCT CCTCTCCCCTCCTCCTCCTTCCTCCTCCTTCCTCCCCTTTCCTCCCCCC	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18977.hp2 HG02074.hp1 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0037 a0001c0001t0001 a0001c0001t0037	a0001c0001t0001g0242 a0001c0001t0037g0214 a0001c0001t0001g0242 a0001c0001t0037g0214	2	140	0.0143	98	c.633 others(115): Show c.633-1833_633-1832insCCTCTCCCCCTCCCCCCTTCCCCTCTTC CACTCCTCCCTCCTCCCCGCTCCTCTCCCCTCCTCCTCCTTCCTCCTCCT TCCTCCCCTTTCCTCCCCCC	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8			chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78448100	T T	TCCTCTCC others(91): Show TCCTCTCCCCCTCCCCCTTCCCCTCTTCCACTCCTCCCTCCTCCCCGCTC CTCTCCCCTCCTCCTCCTTCCTCCTCCTTCCTCCCCTTTCCTCCCCCCC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03130.hp1 HG03041.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0029 a0001c0001t0018 a0001c0001t0029	a0001c0001t0018g0143 a0001c0001t0029g0164 a0001c0001t0018g0143 a0001c0001t0029g0164	2	140	0.0143	98	c.633 others(115): Show c.633-1833_633-1832insCCTCTCCCCCTCCCCCTTCCCCTCTTCC ACTCCTCCCTCCTCCCCGCTCCTCTCCCCTCCTCCTCCTTCCTCCTCCTT CCTCCCCTTTCCTCCCCCCC	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8			chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460820	C C	CCTTCTTC others(91): Show CCTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	165	0.0061	98	c.852 others(115): Show c.852+1461_852+1462insCTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCD5_chr4_82624539_82803796	82712254	A A	ATATACAT others(91): Show ATATACATATGTATATATATATATATATATATACATATATATATATATAT ATACATATATATATATATACGTATATATATATACATATATATATATACG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03540.hp2 HG02572.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0018 a0001c0001t0010 a0001c0001t0018	a0001c0001t0010g0205 a0001c0001t0018g0001 a0001c0001t0010g0205 a0001c0001t0018g0001	2	204	0.0098	98	c.233 others(115): Show c.233-6842_233-6841insCGTATATATATATATGTATATATATATA CGTATATATATATATATGTATATATATATATATATATGTATATATATATA TATATATATACATATGTATA	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	1/4			chr4	TogoVar
SCD5_chr4_82624539_82803796	82712258	A A	ACATATAT others(91): Show ACATATATATATATATATATATATATACATATATATATATATATATACAT ATATATATATATATACGTATATATATATACATATATATATATATATACG	intron_variant intron_variant	MODIFIER	HG01928.hp1 NA18942.hp2 NA19007.hp2 HG01928.hp1 NA18942.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0147 a0001c0001t0001g0170 a0001c0001t0001g0011 a0001c0001t0001g0147 a0001c0001t0001g0170	3	197	0.0152	98	c.233 others(115): Show c.233-6846_233-6845insCGTATATATATATATATATGTATATATA TATACGTATATATATATATATATGTATATATATATATATATATGTATATA TATATATATATATATATATG	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	1/4			chr4	TogoVar
SCD5_chr4_82624539_82803796	82712258	A A	ACATATAT others(91): Show ACATATATATATATATATATATATATACATATATATATATATATATATAC ATATATATATATATATGTATATATATATACATATATATATATATATACG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	195	0.0051	98	c.233 others(115): Show c.233-6846_233-6845insCGTATATATATATATATATGTATATATA TATACATATATATATATATATGTATATATATATATATATATATGTATATA TATATATATATATATATATG	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	1/4			chr4	TogoVar
SCD5_chr4_82624539_82803796	82712258	A A	ACATATAT others(91): Show ACATATATATATATATATATATATATATACATATATATATATATATATAC ATATATATATATATATACGTATATATATATACATATATATATATATACG	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0025 a0001c0001t0014g0025	1	195	0.0051	98	c.233 others(115): Show c.233-6846_233-6845insCGTATATATATATATATGTATATATATA TACGTATATATATATATATATGTATATATATATATATATATGTATATATA TATATATATATATATATATG	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	1/4			chr4	TogoVar
SCD5_chr4_82624539_82803796	82712258	A A	ACATATAT others(91): Show ACATATATATATATATATATATATATATACATATATATATATATATATAT ACATATATATATATATACGTATATATATATACATATATATATATATACG	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0037 a0001c0001t0025g0037	1	195	0.0051	98	c.233 others(115): Show c.233-6846_233-6845insCGTATATATATATATATGTATATATATA TACGTATATATATATATATGTATATATATATATATATATATGTATATATA TATATATATATATATATATG	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	1/4			chr4	TogoVar
SCD5_chr4_82624539_82803796	82712258	A A	ACATATGT others(91): Show ACATATGTATATATATATATATATATATACATATATATATATATATATAT ACATATATATATATATATACGTATATATATATACATATATATATATACG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0182 a0001c0001t0022g0182	1	195	0.0051	98	c.233 others(115): Show c.233-6846_233-6845insCGTATATATATATATGTATATATATATA CGTATATATATATATATATGTATATATATATATATATATATGTATATATA TATATATATATATACATATG	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	1/4			chr4	TogoVar
SCD5_chr4_82624539_82803796	82712283	T T	TATACATA others(91): Show TATACATATATATATATATATATATACATATATATATATATATACGTATA TATATACATATATATATATATATACGTATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0058 a0001c0001t0028g0058	1	191	0.0052	98	c.233 others(115): Show c.233-6871_233-6870insGTATATATATATATATATATATACGTAT ATATATATATATATGTATATATATACGTATATATATATATATATGTATAT ATATATATATATATATGTAT	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	1/4			chr4	TogoVar
SCIMP_chr17_5203920_5239860	5232378	A A	ATAAACAG others(91): Show ATAAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTGTAAACAG TGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTATAAACAGTGCAGTG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02071.hp1 HG02132.hp1 others(13): Show HG00609.hp2 HG02071.hp1 HG02132.hp1 HG02735.hp1 HG02886.hp1 HG03209.hp2 HG03492.hp2 HG04184.hp1 NA18612.hp1 NA18906.hp1 NA18951.hp2 NA18957.hp1 NA18959.hp2 NA18964.hp1 NA18981.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0003	a0001c0001t0001g0099 a0001c0001t0001g0232 a0001c0001t0003g0101 others(11): Show a0001c0001t0001g0099 a0001c0001t0001g0232 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0004g0005 a0001c0001t0004g0091 a0001c0001t0004g0092 a0001c0001t0004g0093 a0001c0001t0004g0094 a0001c0001t0004g0095 a0001c0001t0004g0096 a0001c0001t0004g0097 a0001c0001t0004g0100 a0001c0002t0003g0036	16	31	0.5161	98	c.21+ others(113): Show c.21+2356_21+2357insCACTGCACTGTTTATACTGCACTGTTTACA CTGCACTGTTTATACTGCACTGTTTACACTGCACTGTTTACACTGCACTG TTTATACTGCACTGTTTA	SCIMP	ENSG00000161929.15	transcript	ENST00000574081.6	protein_coding	1/4			chr17	TogoVar
SCIMP_chr17_5203920_5239860	5232378	A A	ATAAACAG others(91): Show ATAAACAGTGCAGTGTAAACAGTGCAGTATAAACAGTGCAGTGTAAACAG TGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTATAAACAGTGCAGTG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01884.hp1 HG01891.hp1 others(4): Show HG01192.hp1 HG01884.hp1 HG01891.hp1 HG02055.hp1 HG02630.hp1 HG02818.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0002 a0001c0003t0005 a0001c0001t0001 a0001c0002t0002 a0001c0003t0005	a0001c0001t0001g0029 a0001c0001t0001g0083 a0001c0001t0001g0084 others(4): Show a0001c0001t0001g0029 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0115 a0001c0001t0001g0279 a0001c0002t0002g0071 a0001c0003t0005g0155	7	22	0.3182	98	c.21+ others(113): Show c.21+2356_21+2357insCACTGCACTGTTTATACTGCACTGTTTACA CTGCACTGTTTATACTGCACTGTTTACACTGCACTGTTTATACTGCACTG TTTACACTGCACTGTTTA	SCIMP	ENSG00000161929.15	transcript	ENST00000574081.6	protein_coding	1/4			chr17	TogoVar
SCIMP_chr17_5203920_5239860	5232378	A A	ATAAACAG others(91): Show ATAAACAGTGCAGTGTAAACAGTGCAGTGTAAACAGTGCAGTGTAAACAG TGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTATAAACAGTGCAGTG	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA18988.hp1 NA19080.hp2 HG02165.hp2 NA18988.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0003 a0001c0001t0004 a0001c0002t0003	a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0002t0003g0107 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0002t0003g0107	3	18	0.1667	98	c.21+ others(113): Show c.21+2356_21+2357insCACTGCACTGTTTATACTGCACTGTTTACA CTGCACTGTTTATACTGCACTGTTTACACTGCACTGTTTACACTGCACTG TTTACACTGCACTGTTTA	SCIMP	ENSG00000161929.15	transcript	ENST00000574081.6	protein_coding	1/4			chr17	TogoVar
SCLY_chr2_238056001_238104413	238098581	C C	CCGCCCAC others(91): Show CCGCCCACATGGGACCGCCCACATAGAACCGTCCACATGGGACCGCCCAC ATGGGAACGCCCACATAGAACCGCCCACATAGGACCGCCCACATGGGAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0148 a0001c0005t0148	a0001c0005t0148g0275 a0001c0005t0148g0275	1	260	0.0038	98	c.23 others(107): Show c.235_*236insGGGACCGCCCACATAGAACCGTCCACATGGGACCGC CCACATGGGAACGCCCACATAGAACCGCCCACATAGGACCGCCCACATGG GAACGCCCACAT	SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding	12/12	236	INFO_REALIGN_3_PRIME	chr2	TogoVar
SCLY_chr2_238056001_238104413	238098598	C C	CCCACATA others(91): Show CCCACATAGGACCGCCCACATAGAACCGCCCACATGGGAACGCCCACATA GGACCGCCCACATAGGACCGCCCACATGGGACCGCCCACATAGAACCGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00642.hp1 HG01099.hp1 HG02257.hp1 others(4): Show HG00642.hp1 HG01099.hp1 HG02257.hp1 HG02280.hp1 HG02976.hp1 HG03139.hp2 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0026 a0001c0003t0010g0120 a0001c0003t0010g0121 others(3): Show a0001c0003t0010g0026 a0001c0003t0010g0120 a0001c0003t0010g0121 a0001c0003t0010g0133 a0001c0003t0010g0134 a0001c0003t0010g0135	7	384	0.0182	98	c.26 others(107): Show c.263_*264insAGAACCGCCCACATGGGAACGCCCACATAGGACCGC CCACATAGGACCGCCCACATGGGACCGCCCACATAGAACCGTCCACATAG GACCGCCCACAT	SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding	12/12	264	INFO_REALIGN_3_PRIME	chr2	TogoVar
SCLY_chr2_238056001_238104413	238098605	A A	AGGACCGC others(91): Show AGGACCGCCCACATGGGACCGCCCACATGGGACCGCCCACATAGGACCGC CCACATGGGACCGCCCACATGGGACCGCCCACATGGGACCGCCCACATG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0120 a0001c0001t0120	a0001c0001t0120g0001 a0001c0001t0120g0001	1	213	0.0047	98	c.29 others(107): Show c.291_*292insAGGACCGCCCACATGGGACCGCCCACATGGGACCGC CCACATGGGACCGCCCACATGGGACCGCCCACATGGGACCGCCCACATGG GACCGCCCACAT	SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding	12/12	292	INFO_REALIGN_3_PRIME	chr2	TogoVar
SCLY_chr2_238056001_238104413	238098609	C C	CCGCCCAC others(91): Show CCGCCCACATAGGACCGCCCACATGGGAACGCCCACATAGAACCGTCCAC ATGGGACCGCCCACATGGGAACGCCCACATGGGACCGCCCACATGGGAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0152 a0001c0003t0152	a0001c0003t0152g0166 a0001c0003t0152g0166	1	277	0.0036	98	c.26 others(107): Show c.263_*264insAGGACCGCCCACATGGGAACGCCCACATAGAACCGT CCACATGGGACCGCCCACATGGGAACGCCCACATGGGACCGCCCACATGG GAACGCCCACAT	SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding	12/12	264	INFO_REALIGN_3_PRIME	chr2	TogoVar
SCLY_chr2_238056001_238104413	238098609	C C	CCGCCCAC others(91): Show CCGCCCACATGGGACCGCCCACATGGGAACGCCCACATAGGACCGCCCAC ATGGGACCGCCCACATGGGACCGCCCACATGGGACCGCCCACATGGGAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0117 a0001c0001t0117	a0001c0001t0117g0069 a0001c0001t0117g0069	1	277	0.0036	98	c.28 others(107): Show c.281_*282insACGCCCACATAGGACCGCCCACATGGGACCGCCCAC ATGGGACCGCCCACATGGGACCGCCCACATGGGAACGCCCACATGGGACC GCCCACATGGGA	SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding	12/12	282	INFO_REALIGN_3_PRIME	chr2	TogoVar
SCLY_chr2_238056001_238104413	238098619	G G	GGGACCGC others(91): Show GGGACCGCCCACATGGGACCGCCCACATGGGACCGCCCACATAGGACCGC CCACATAGGACCGCCCACATGGGACCGCCCACATAGAACCGTCCACATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0108 a0001c0001t0108	a0001c0001t0108g0081 a0001c0001t0108g0081	1	346	0.0029	98	c.30 others(107): Show c.307_*308insGACCGCCCACATAGGACCGCCCACATGGGACCGCCC ACATAGAACCGTCCACATAGGACCGCCCACATGGGACCGCCCACATGGGA CCGCCCACATAG	SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding	12/12	308	INFO_REALIGN_3_PRIME	chr2	TogoVar
SCLY_chr2_238056001_238104413	238098623	C C	CCGCCCAC others(91): Show CCGCCCACATGGGACCGCCCACATAGGACCGCCCACATGGGACCGCCCAC ATGGGACCGCCCACATGGGACCGCCCACATGGGACCGCCCACATGGGAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0119 a0001c0001t0119	a0001c0001t0119g0100 a0001c0001t0119g0100	1	337	0.0030	98	c.29 others(107): Show c.291_*292insAGGACCGCCCACATGGGACCGCCCACATGGGACCGC CCACATGGGACCGCCCACATGGGACCGCCCACATGGGAACGCCCACATGG GACCGCCCACAT	SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding	12/12	292	INFO_REALIGN_3_PRIME	chr2	TogoVar
SCNN1D_chr1_1275436_1297025	1288442	T T	TGTCTCTG others(91): Show TGTCTCTGCCCTGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCC CCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0155 a0003c0004t0003g0155	1	286	0.0035	98	c.166 others(115): Show c.1662+413_1662+414insCCTGTCCCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC CCCGTCCCCCGAGTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288493	T T	TCCCCCGT others(91): Show TCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCC CTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0065 a0002c0003t0002g0065	1	256	0.0039	98	c.166 others(115): Show c.1662+459_1662+460insCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCC GTGTCTCTGCTCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288997	T T	TCCCCCGT others(91): Show TCCCCCGTGTCTCTGCTCCGTCCCCTGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCATTCCCCGTGTCTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0028 a0028	a0028c0024 a0028c0024	a0028c0024t0001 a0028c0024t0001	a0028c0024t0001g0059 a0028c0024t0001g0059	1	255	0.0039	98	c.166 others(115): Show c.1662+963_1662+964insCCGTGTCTCTGCTCCGTCCCCTGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCATTCCCC GTGTCTCTGCTCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289015	T T	TCCCCCGT others(91): Show TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0103 a0007c0006t0001g0103	1	245	0.0041	98	c.166 others(115): Show c.1662+981_1662+982insCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCC GTGTCCCTGCTCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289689	T T	TCCCCCGT others(91): Show TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	255	0.0039	98	c.166 others(115): Show c.1663-579_1663-578insCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCC GTGTCTCTGCTCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEC14L3_chr22_30454229_30477017	30454536	A A	AATAATAT others(91): Show AATAATATTATTATATATAATCTATAATAATATAATTATATATAATTCTA TAATAATATTATTATATATAATCTATAATAATATTATTATATATAATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0009 a0003c0003t0009	a0003c0003t0009g0090 a0003c0003t0009g0090	1	108	0.0093	98	c.54 others(109): Show c.5484_*5485insAGATTATATATAATAATATTATTATAGATTATAT ATAATAATATTATTATAGAATTATATATAATTATATTATTATAGATTATA TATAATAATATTAT	SEC14L3	ENSG00000100012.12	transcript	ENST00000215812.9	protein_coding		4692		chr22	TogoVar
SEC14L3_chr22_30454229_30477017	30454865	A A	AATATATA others(91): Show AATATATAATATATTATATATATTATATAATAGATATATAATATATTATT ATATATTATATAATAGATATATAATATATTATTATATATTATATAATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02723.hp2 HG02572.hp2 HG02723.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0059 a0006c0006t0001g0059	2	327	0.0061	98	c.51 others(109): Show c.5155_*5156insCTATTATATAATATATAATAATATATTATATATC TATTATATAATATATAATAATATATTATATATCTATTATATAATATATAT AATATATTATATAT	SEC14L3	ENSG00000100012.12	transcript	ENST00000215812.9	protein_coding		4363		chr22	TogoVar
SEC14L3_chr22_30454229_30477017	30454865	A A	AATATATT others(91): Show AATATATTATATATTATATATATTATATAATAGATATATAATATATTATT ATATATTATATAATAGATATATAATATATTATTATATATTATATAATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0001 a0011c0013t0001	a0011c0013t0001g0152 a0011c0013t0001g0152	1	326	0.0031	98	c.51 others(109): Show c.5155_*5156insCTATTATATAATATATAATAATATATTATATATC TATTATATAATATATAATAATATATTATATATCTATTATATAATATATAT AATATATAATATAT	SEC14L3	ENSG00000100012.12	transcript	ENST00000215812.9	protein_coding		4363		chr22	TogoVar
SEH1L_chr18_12943011_12992531	12980479	A A	AACCTCCC others(91): Show AACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01261.hp2 HG01106.hp2 HG01261.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0271 a0002c0002t0001g0272 a0002c0002t0001g0271 a0002c0002t0001g0272	2	265	0.0075	98	c.761 others(115): Show c.761+1608_761+1705dupGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGC	SEH1L	ENSG00000085415.16	transcript	ENST00000399892.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
SEMA4D_chr9_89372235_89503113	89462954	G G	GGGAGGGG others(91): Show GGGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGA GCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGA	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA19054.hp2 HG03225.hp1 NA19054.hp2	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0007 a0001c0007t0001 a0001c0003t0007 a0001c0007t0001	a0001c0003t0007g0192 a0001c0007t0001g0163 a0001c0003t0007g0192 a0001c0007t0001g0163	2	41	0.0488	98	c.-30 others(117): Show c.-309-7002_-309-7001insTCCCCTCGCTCGCTCCCCTCCCCTCG CTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCC CTCGCTCGCTCCCCTCCCCTCC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar
SESN1_chr6_108979309_109099846	109047027	A A	ATCCGGGA others(91): Show ATCCGGGAGGGAGGTGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGTGCCA TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGTGCCG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03225.hp2 HG03540.hp1 others(2): Show HG02572.hp1 HG03225.hp2 HG03540.hp1 HG03579.hp1 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0002 a0001c0003t0004g0003 a0001c0003t0004g0004 others(2): Show a0001c0003t0004g0002 a0001c0003t0004g0003 a0001c0003t0004g0004 a0001c0003t0004g0005 a0001c0003t0004g0006	5	155	0.0323	98	c.280 others(117): Show c.280-44685_280-44684insCGGCACGGCTGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGATGGCACGGCTGGCCGGGCGGGGGGGCT GACCCCCCACCTCCCTCCCGGA	SESN1	ENSG00000080546.14	transcript	ENST00000436639.7	protein_coding	1/9			chr6	TogoVar

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