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
SCN5A_chr3_38543062_38654687	38555105	A A	ATATATAT others(4): Show ATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0046 a0001c0046	a0001c0046t0001 a0001c0046t0001	a0001c0046t0001g0329 a0001c0046t0001g0329	1	340	0.0029	11	c.454 others(28): Show c.4542+550_4542+551insAAAAATATATA	SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding	26/27			chr3	TogoVar
SCN5A_chr3_38543062_38654687	38555105	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA20805.hp1 HG02055.hp1 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0028 a0001c0002 a0003c0028	a0001c0002t0001 a0003c0028t0004 a0001c0002t0001 a0003c0028t0004	a0001c0002t0001g0109 a0003c0028t0004g0044 a0001c0002t0001g0109 a0003c0028t0004g0044	2	340	0.0059	11	c.454 others(28): Show c.4542+540_4542+550dupAAAAAAAAAAA	SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding	26/27			chr3	TogoVar
SCN5A_chr3_38543062_38654687	38555106	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA18959.hp1 HG02717.hp2 NA18959.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0071 a0001c0002 a0002c0071	a0001c0002t0001 a0002c0071t0001 a0001c0002t0001 a0002c0071t0001	a0001c0002t0001g0271 a0002c0071t0001g0038 a0001c0002t0001g0271 a0002c0071t0001g0038	2	340	0.0059	11	c.454 others(28): Show c.4542+549_4542+550insTATATATATAT	SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding	26/27			chr3	TogoVar
SCN5A_chr3_38543062_38654687	38577785	C C	CTTTCTCA others(4): Show CTTTCTCAAGGG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0002 a0002c0016t0002	a0002c0016t0002g0116 a0002c0016t0002g0116	1	340	0.0029	11	c.339 others(30): Show c.3391-1005_3391-1004insCCCTTGAGAAA	SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding	18/27			chr3	TogoVar
SCN5A_chr3_38543062_38654687	38577785	C C	CTTTCTCA others(4): Show CTTTCTCATGGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00423.hp1 others(145): Show HG00099.hp2 HG00140.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00673.hp2 HG00738.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG02015.hp2 HG02055.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02165.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp2 HG02965.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03704.hp1 HG03834.hp2 HG04115.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp2 NA18955.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp2 NA18963.hp1 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18982.hp2 NA18984.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18992.hp2 NA18993.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19057.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp2 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19085.hp1 NA19086.hp2 NA19088.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0005 a0006 a0012 a0013 a0015 a0016 a0020 a0022 a0023 a0024 a0025 a0027 a0028	a0001c0001 a0001c0002 a0001c0003 others(39): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0012 a0001c0019 a0001c0048 a0001c0050 a0001c0051 a0001c0055 a0002c0005 a0002c0006 a0002c0007 a0002c0009 a0002c0013 a0002c0015 a0002c0016 a0002c0035 a0002c0062 a0002c0064 a0002c0065 a0002c0071 a0003c0028 a0004c0011 a0004c0045 a0005c0029 a0005c0030 a0006c0024 a0006c0067 a0006c0068 a0012c0037 a0013c0047 a0015c0076 a0016c0066 a0020c0052 a0022c0074 a0023c0056 a0024c0058 a0025c0075 a0027c0036 a0028c0079	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(57): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0027 a0001c0002t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0009 a0001c0003t0026 a0001c0004t0001 a0001c0008t0002 a0001c0008t0007 a0001c0012t0001 a0001c0019t0002 a0001c0048t0003 a0001c0050t0003 a0001c0051t0002 a0001c0055t0020 a0002c0005t0001 a0002c0005t0013 a0002c0006t0002 a0002c0006t0003 a0002c0006t0004 a0002c0006t0005 a0002c0007t0002 a0002c0009t0002 a0002c0009t0007 a0002c0013t0001 a0002c0015t0001 a0002c0015t0014 a0002c0016t0002 a0002c0035t0004 a0002c0062t0008 a0002c0064t0001 a0002c0065t0002 a0002c0071t0001 a0003c0028t0004 a0004c0011t0001 a0004c0045t0002 a0005c0029t0021 a0005c0029t0023 a0005c0030t0008 a0006c0024t0001 a0006c0067t0028 a0006c0068t0017 a0012c0037t0002 a0013c0047t0001 a0015c0076t0001 a0016c0066t0002 a0020c0052t0004 a0022c0074t0002 a0023c0056t0001 a0024c0058t0002 a0025c0075t0003 a0027c0036t0010 a0028c0079t0001	a0001c0001t0002g0020 a0001c0001t0002g0033 a0001c0001t0002g0212 others(143): Show a0001c0001t0002g0020 a0001c0001t0002g0033 a0001c0001t0002g0212 a0001c0001t0002g0223 a0001c0001t0003g0052 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0165 a0001c0001t0003g0179 a0001c0001t0003g0185 a0001c0001t0003g0197 a0001c0001t0003g0226 a0001c0001t0003g0245 a0001c0001t0003g0254 a0001c0001t0003g0308 a0001c0001t0004g0162 a0001c0001t0004g0176 a0001c0001t0004g0317 a0001c0001t0004g0333 a0001c0001t0005g0003 a0001c0001t0005g0065 a0001c0001t0006g0172 a0001c0001t0027g0193 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0241 a0001c0002t0001g0300 a0001c0002t0001g0304 a0001c0002t0001g0307 a0001c0003t0002g0067 a0001c0003t0002g0297 a0001c0003t0003g0069 a0001c0003t0003g0070 a0001c0003t0003g0076 a0001c0003t0003g0078 a0001c0003t0003g0086 a0001c0003t0003g0099 a0001c0003t0003g0100 a0001c0003t0003g0101 a0001c0003t0003g0102 a0001c0003t0003g0103 a0001c0003t0003g0201 a0001c0003t0003g0294 a0001c0003t0003g0298 a0001c0003t0004g0079 a0001c0003t0004g0111 a0001c0003t0004g0112 a0001c0003t0005g0295 a0001c0003t0009g0006 a0001c0003t0026g0087 a0001c0004t0001g0080 a0001c0004t0001g0081 a0001c0004t0001g0082 a0001c0004t0001g0089 a0001c0004t0001g0095 a0001c0004t0001g0115 a0001c0004t0001g0202 a0001c0004t0001g0296 a0001c0008t0002g0134 a0001c0008t0007g0121 a0001c0012t0001g0032 a0001c0019t0002g0021 a0001c0019t0002g0042 a0001c0048t0003g0246 a0001c0050t0003g0287 a0001c0051t0002g0008 a0001c0055t0020g0034 a0002c0005t0001g0037 a0002c0005t0001g0143 a0002c0005t0001g0146 a0002c0005t0001g0147 a0002c0005t0001g0191 a0002c0005t0001g0216 a0002c0005t0001g0225 a0002c0005t0001g0229 a0002c0005t0001g0247 a0002c0005t0001g0248 a0002c0005t0001g0249 a0002c0005t0001g0250 a0002c0005t0001g0256 a0002c0005t0001g0258 a0002c0005t0001g0267 a0002c0005t0001g0274 a0002c0005t0001g0284 a0002c0005t0001g0316 a0002c0005t0001g0331 a0002c0005t0013g0005 a0002c0006t0002g0257 a0002c0006t0003g0136 a0002c0006t0003g0233 a0002c0006t0003g0234 a0002c0006t0003g0235 a0002c0006t0003g0236 a0002c0006t0003g0262 a0002c0006t0003g0263 a0002c0006t0004g0058 a0002c0006t0004g0238 a0002c0006t0004g0251 a0002c0006t0004g0252 a0002c0006t0004g0318 a0002c0006t0005g0228 a0002c0006t0005g0253 a0002c0007t0002g0011 a0002c0009t0002g0016 a0002c0009t0002g0017 a0002c0009t0007g0014 a0002c0009t0007g0036 a0002c0009t0007g0059 a0002c0013t0001g0085 a0002c0013t0001g0091 a0002c0013t0001g0169 a0002c0015t0001g0012 a0002c0015t0001g0125 a0002c0015t0014g0023 a0002c0016t0002g0117 a0002c0035t0004g0077 a0002c0062t0008g0013 a0002c0064t0001g0010 a0002c0065t0002g0130 a0002c0071t0001g0038 a0003c0028t0004g0044 a0004c0011t0001g0026 a0004c0011t0001g0027 a0004c0011t0001g0028 a0004c0011t0001g0030 a0004c0045t0002g0029 a0005c0029t0021g0048 a0005c0029t0023g0049 a0005c0030t0008g0050 a0005c0030t0008g0219 a0006c0024t0001g0001 a0006c0067t0028g0282 a0006c0068t0017g0039 a0012c0037t0002g0051 a0013c0047t0001g0045 a0015c0076t0001g0018 a0016c0066t0002g0041 a0020c0052t0004g0327 a0022c0074t0002g0224 a0023c0056t0001g0015 a0024c0058t0002g0315 a0025c0075t0003g0166 a0027c0036t0010g0094 a0028c0079t0001g0222	148	340	0.4353	11	c.339 others(30): Show c.3391-1005_3391-1004insCCCATGAGAAA	SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding	18/27			chr3	TogoVar
SCN8A_chr12_51586233_51817864	51679721	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0202 a0001c0001t0006g0202	1	202	0.0050	11	c.277 others(28): Show c.277-4441_277-4431dupTTTTTTTTTTT	SCN8A	ENSG00000196876.19	transcript	ENST00000354534.11	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
SCN8A_chr12_51586233_51817864	51780565	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0051 a0001c0005t0009g0051	1	202	0.0050	11	c.382 others(26): Show c.3820-55_3820-45dupTTTTTTTTTTT	SCN8A	ENSG00000196876.19	transcript	ENST00000354534.11	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
SCN9A_chr2_166190185_166380944	166199975	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01358.hp1 HG01358.hp2 others(4): Show HG01070.hp2 HG01358.hp1 HG01358.hp2 NA18979.hp2 NA19062.hp1 NA19064.hp2 NA19068.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0007	a0001c0002 a0001c0003 a0001c0016 others(3): Show a0001c0002 a0001c0003 a0001c0016 a0002c0029 a0006c0010 a0007c0052	a0001c0002t0001 a0001c0003t0001 a0001c0016t0001 others(3): Show a0001c0002t0001 a0001c0003t0001 a0001c0016t0001 a0002c0029t0004 a0006c0010t0001 a0007c0052t0004	a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0003t0001g0162 others(4): Show a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0003t0001g0162 a0001c0016t0001g0288 a0002c0029t0004g0213 a0006c0010t0001g0249 a0007c0052t0004g0263	7	296	0.0237	11	c.477 others(28): Show c.4775-122_4775-112dupAAAAAAAAAAA	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	26/26			chr2	TogoVar
SCN9A_chr2_166190185_166380944	166297196	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0007 a0007	a0007c0060 a0007c0060	a0007c0060t0004 a0007c0060t0004	a0007c0060t0004g0248 a0007c0060t0004g0248	1	296	0.0034	11	c.902 others(28): Show c.902-2545_902-2535dupTTTTTTTTTTT	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	7/26			chr2	TogoVar
SCN9A_chr2_166190185_166380944	166311377	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0171 a0001c0006t0001g0171	1	296	0.0034	11	c.258 others(26): Show c.258+121_258+122insTATATATATAT	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	2/26			chr2	TogoVar
SCN9A_chr2_166190185_166380944	166340541	C C	CTTTCTTT others(4): Show CTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	296	0.0034	11	c.-50 others(30): Show c.-50-28736_-50-28735insAAAGAAAGAAA	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	1/26			chr2	TogoVar
SCNN1B_chr16_23297302_23386294	23301366	A A	AAAAAAAG others(4): Show AAAAAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02630.hp2 HG02896.hp2 HG02572.hp1 HG02630.hp2 HG02896.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0004 a0001c0001 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0003t0001 a0002c0004t0001 a0001c0001t0001 a0001c0003t0001 a0002c0004t0001	a0001c0001t0001g0084 a0001c0003t0001g0083 a0002c0004t0001g0082 a0001c0001t0001g0084 a0001c0003t0001g0083 a0002c0004t0001g0082	3	306	0.0098	11	c.-10 others(22): Show c.-1080_-1079insAAAAAAGAAAG	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding		935		chr16	TogoVar
SCNN1B_chr16_23297302_23386294	23305534	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp2 NA20129.hp2 HG02896.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0099 a0002c0004t0001g0082 a0001c0001t0001g0099 a0002c0004t0001g0082	2	306	0.0065	11	c.-9+ others(26): Show c.-9+3097_-9+3098insATATATATATA	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	1/12			chr16	TogoVar
SCNN1B_chr16_23297302_23386294	23346200	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG02451.hp2 others(2): Show HG01070.hp1 HG01071.hp2 HG02451.hp2 HG03139.hp1 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0007 a0001c0001 a0001c0003 a0002c0007	a0001c0001t0001 a0001c0003t0001 a0002c0007t0001 a0001c0001t0001 a0001c0003t0001 a0002c0007t0001	a0001c0001t0001g0108 a0001c0001t0001g0242 a0001c0001t0001g0243 others(2): Show a0001c0001t0001g0108 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0003t0001g0113 a0002c0007t0001g0087	5	306	0.0163	11	c.-8- others(26): Show c.-8-2373_-8-2363dupTTTTTTTTTTT	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1B_chr16_23297302_23386294	23365617	G G	GAGAAAGA others(4): Show GAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01081.hp2 HG01934.hp2 others(4): Show HG00140.hp2 HG01081.hp2 HG01934.hp2 HG02135.hp2 HG02559.hp1 HG02738.hp2 NA18971.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0014 a0002c0004 a0001c0001 a0001c0014 a0002c0004	a0001c0001t0001 a0001c0014t0001 a0002c0004t0001 a0001c0001t0001 a0001c0014t0001 a0002c0004t0001	a0001c0001t0001g0129 a0001c0001t0001g0143 a0001c0001t0001g0206 others(4): Show a0001c0001t0001g0129 a0001c0001t0001g0143 a0001c0001t0001g0206 a0001c0001t0001g0221 a0001c0001t0001g0239 a0001c0014t0001g0196 a0002c0004t0001g0058	7	306	0.0229	11	c.777 others(28): Show c.777-2238_777-2237insGAAAGAAAGAA	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1D_chr1_1275436_1297025	1284117	G G	GGGGGGTT others(4): Show GGGGGGTTGGGT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0001 a0005c0015t0001	a0005c0015t0001g0281 a0005c0015t0001g0281	1	290	0.0035	11	c.464 others(24): Show c.464+32_464+33insTTGGGTGGGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1284172	G G	GGTGTTGG others(4): Show GGTGTTGGGTGA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0130 a0001c0012t0001g0130	1	290	0.0035	11	c.464 others(24): Show c.464+83_464+84insTGTTGGGTGAG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289434	C C	CGTGTCTC others(4): Show CGTGTCTCTGCT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0026 a0026	a0026c0057 a0026c0057	a0026c0057t0003 a0026c0057t0003	a0026c0057t0003g0257 a0026c0057t0003g0257	1	290	0.0035	11	c.166 others(28): Show c.1663-837_1663-836insGTGTCTCTGCT	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17			chr1	TogoVar
SCNN1G_chr16_23177745_23221883	23180597	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG03704.hp2 HG01106.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0237 a0001c0001t0001g0239	2	320	0.0063	11	c.-22 others(22): Show c.-2261_-2260insAAAAAAAAAAA	SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding		2147		chr16	TogoVar
SCP2_chr1_52922276_53056698	52934592	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02723.hp2 NA20300.hp1 HG01978.hp1 HG02723.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0004t0004 a0001c0001t0003 a0001c0004t0004	a0001c0001t0003g0255 a0001c0004t0004g0145 a0001c0004t0004g0146 a0001c0001t0003g0255 a0001c0004t0004g0145 a0001c0004t0004g0146	3	280	0.0107	11	c.69+ others(26): Show c.69+7155_69+7165dupTTTTTTTTTTT	SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCP2_chr1_52922276_53056698	52987006	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0105 a0001c0002t0002g0105	1	280	0.0036	11	c.974 others(28): Show c.974-1022_974-1021insATATATATATT	SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCP2_chr1_52922276_53056698	52987007	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp2 HG02083.hp1 others(10): Show HG00544.hp1 HG00558.hp2 HG02083.hp1 HG02155.hp2 NA18747.hp1 NA18964.hp1 NA18968.hp2 NA18986.hp2 NA19010.hp2 NA19012.hp1 NA19058.hp2 NA19088.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0064 a0001c0001t0002g0088 a0001c0002t0002g0097 others(10): Show a0001c0001t0002g0064 a0001c0001t0002g0088 a0001c0002t0002g0097 a0001c0002t0002g0099 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0115 a0001c0002t0002g0116 a0001c0002t0002g0118 a0001c0002t0002g0123 a0001c0002t0002g0125 a0001c0002t0002g0129	13	280	0.0464	11	c.974 others(28): Show c.974-1022_974-1021insATATATATATA	SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding	10/15			chr1	TogoVar
SCP2_chr1_52922276_53056698	52999815	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG01928.hp2 others(10): Show HG00323.hp2 HG00438.hp1 HG01928.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03540.hp2 NA18906.hp1 NA18948.hp1 NA19001.hp2 NA19054.hp1 NA19070.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0002t0002 a0001c0002t0006	a0001c0001t0002g0182 a0001c0001t0003g0227 a0001c0001t0003g0237 others(10): Show a0001c0001t0002g0182 a0001c0001t0003g0227 a0001c0001t0003g0237 a0001c0001t0003g0241 a0001c0001t0003g0250 a0001c0001t0003g0257 a0001c0001t0010g0174 a0001c0002t0002g0043 a0001c0002t0002g0096 a0001c0002t0002g0103 a0001c0002t0002g0166 a0001c0002t0006g0045 a0001c0002t0006g0046	13	280	0.0464	11	c.108 others(32): Show c.1081+11688_1081+11698dupTTTTTTTTTTT	SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCRG1_chr4_173379701_173404116	173396712	T T	TGTGTGTG others(4): Show TGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0118 a0001c0001t0002g0118	1	380	0.0026	11	c.-15 others(28): Show c.-15+2355_-15+2356insCACACACACAC	SCRG1	ENSG00000164106.8	transcript	ENST00000296506.8	protein_coding	1/2			chr4	TogoVar
SCUBE1_chr22_43192280_43348372	43192633	T T	TATATATA others(4): Show TATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0041 a0001c0041	a0001c0041t0040 a0001c0041t0040	a0001c0041t0040g0134 a0001c0041t0040g0134	1	280	0.0036	11	c.11 others(24): Show c.11363_*11364insTATATATATAT	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding		4646		chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43273561	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01496.hp1 HG02258.hp1 others(4): Show HG01243.hp2 HG01496.hp1 HG02258.hp1 HG02818.hp1 HG03195.hp1 NA19030.hp1 NA19030.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0010 a0001c0019 a0001c0055 others(3): Show a0001c0010 a0001c0019 a0001c0055 a0002c0002 a0002c0009 a0005c0016	a0001c0010t0091 a0001c0019t0008 a0001c0055t0063 others(4): Show a0001c0010t0091 a0001c0019t0008 a0001c0055t0063 a0002c0002t0005 a0002c0002t0012 a0002c0009t0090 a0005c0016t0079	a0001c0010t0091g0275 a0001c0019t0008g0264 a0001c0055t0063g0234 others(4): Show a0001c0010t0091g0275 a0001c0019t0008g0264 a0001c0055t0063g0234 a0002c0002t0005g0042 a0002c0002t0012g0045 a0002c0009t0090g0270 a0005c0016t0079g0132	7	280	0.0250	11	c.485 others(30): Show c.485-10727_485-10717dupAAAAAAAAAAA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43295987	A A	AGGGCAGG others(4): Show AGGGCAGGGCCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00544.hp1 others(69): Show HG00280.hp1 HG00408.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG01069.hp2 HG01071.hp1 HG01168.hp1 HG01358.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02155.hp1 HG02165.hp1 HG02258.hp2 HG02559.hp1 HG02572.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03669.hp2 HG03688.hp1 HG03831.hp1 HG06807.hp1 NA18747.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18950.hp2 NA18954.hp1 NA18962.hp2 NA18966.hp1 NA18971.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp2 NA18994.hp2 NA18995.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19030.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19080.hp1 NA19080.hp2 NA19083.hp2 NA19087.hp1 NA20300.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0012 a0021	a0001c0003 a0001c0004 a0001c0006 others(24): Show a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0010 a0001c0012 a0001c0013 a0001c0019 a0001c0020 a0001c0021 a0001c0023 a0001c0055 a0001c0056 a0002c0002 a0002c0005 a0002c0009 a0002c0014 a0002c0024 a0002c0026 a0002c0054 a0002c0061 a0003c0001 a0003c0007 a0004c0011 a0006c0015 a0012c0031 a0021c0038	a0001c0003t0003 a0001c0004t0004 a0001c0004t0016 others(42): Show a0001c0003t0003 a0001c0004t0004 a0001c0004t0016 a0001c0006t0011 a0001c0008t0009 a0001c0010t0033 a0001c0012t0096 a0001c0013t0004 a0001c0019t0008 a0001c0020t0017 a0001c0021t0001 a0001c0023t0094 a0001c0055t0063 a0001c0056t0030 a0002c0002t0001 a0002c0002t0002 a0002c0002t0007 a0002c0002t0010 a0002c0002t0013 a0002c0002t0018 a0002c0002t0042 a0002c0002t0056 a0002c0002t0059 a0002c0002t0061 a0002c0002t0067 a0002c0002t0095 a0002c0005t0001 a0002c0005t0023 a0002c0009t0025 a0002c0014t0014 a0002c0014t0026 a0002c0014t0078 a0002c0024t0034 a0002c0024t0073 a0002c0026t0001 a0002c0054t0002 a0002c0061t0001 a0003c0001t0001 a0003c0001t0053 a0003c0007t0001 a0003c0007t0002 a0004c0011t0006 a0006c0015t0007 a0012c0031t0002 a0021c0038t0002	a0001c0003t0003g0123 a0001c0004t0004g0233 a0001c0004t0016g0008 others(69): Show a0001c0003t0003g0123 a0001c0004t0004g0233 a0001c0004t0016g0008 a0001c0006t0011g0198 a0001c0008t0009g0115 a0001c0010t0033g0006 a0001c0012t0096g0277 a0001c0013t0004g0116 a0001c0019t0008g0051 a0001c0019t0008g0052 a0001c0020t0017g0014 a0001c0021t0001g0254 a0001c0023t0094g0271 a0001c0055t0063g0234 a0001c0056t0030g0017 a0002c0002t0001g0122 a0002c0002t0001g0205 a0002c0002t0002g0027 a0002c0002t0002g0036 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0113 a0002c0002t0002g0117 a0002c0002t0002g0146 a0002c0002t0002g0190 a0002c0002t0002g0250 a0002c0002t0007g0047 a0002c0002t0010g0114 a0002c0002t0013g0062 a0002c0002t0013g0100 a0002c0002t0013g0175 a0002c0002t0018g0011 a0002c0002t0018g0012 a0002c0002t0042g0041 a0002c0002t0056g0159 a0002c0002t0059g0103 a0002c0002t0061g0176 a0002c0002t0067g0043 a0002c0002t0095g0278 a0002c0005t0001g0049 a0002c0005t0023g0156 a0002c0009t0025g0070 a0002c0009t0025g0259 a0002c0014t0014g0260 a0002c0014t0026g0235 a0002c0014t0078g0261 a0002c0024t0034g0018 a0002c0024t0073g0258 a0002c0026t0001g0160 a0002c0054t0002g0048 a0002c0061t0001g0119 a0003c0001t0001g0064 a0003c0001t0001g0104 a0003c0001t0001g0118 a0003c0001t0001g0135 a0003c0001t0001g0155 a0003c0001t0001g0158 a0003c0001t0001g0196 a0003c0001t0001g0197 a0003c0001t0001g0202 a0003c0001t0001g0211 a0003c0001t0001g0215 a0003c0001t0001g0251 a0003c0001t0053g0203 a0003c0007t0001g0102 a0003c0007t0001g0193 a0003c0007t0002g0065 a0003c0007t0002g0085 a0004c0011t0006g0144 a0006c0015t0007g0066 a0012c0031t0002g0019 a0021c0038t0002g0080	72	280	0.2571	11	c.350 others(28): Show c.350-4818_350-4808dupGGGCCCTGCCC	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	3/21			chr22	TogoVar
SCUBE2_chr11_9014476_9096599	9054725	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0015 a0003c0003t0015	a0003c0003t0015g0137 a0003c0003t0015g0137	1	358	0.0028	11	c.120 others(28): Show c.1208-967_1208-966insATATATATATA	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	10/22			chr11	TogoVar
SCUBE2_chr11_9014476_9096599	9058595	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0008 a0003c0003t0008	a0003c0003t0008g0165 a0003c0003t0008g0165	1	358	0.0028	11	c.109 others(28): Show c.1090+697_1090+707dupTTTTTTTTTTT	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	9/22			chr11	TogoVar
SCUBE3_chr6_35208956_35258079	35214317	G G	GCCCCCTC others(4): Show GCCCCCTCCCCT	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18954.hp2 NA18975.hp1 NA18954.hp2 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0213 a0001c0001t0017g0216 a0001c0001t0017g0213 a0001c0001t0017g0216	2	290	0.0069	11	c.-93 others(18): Show c.-93_-83dupCCTCCCCCTCC	SCUBE3	ENSG00000146197.9	transcript	ENST00000274938.8	protein_coding	1/22	82	INFO_REALIGN_3_PRIME	chr6	TogoVar
SCUBE3_chr6_35208956_35258079	35217222	C C	CGGGGGGG others(4): Show CGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA18964.hp1 HG02165.hp2 NA18964.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0008 a0002c0002t0001 a0001c0001t0008 a0002c0002t0001	a0001c0001t0008g0122 a0002c0002t0001g0123 a0001c0001t0008g0122 a0002c0002t0001g0123	2	290	0.0069	11	c.85+ others(26): Show c.85+2723_85+2733dupGGGGGGGGGGG	SCUBE3	ENSG00000146197.9	transcript	ENST00000274938.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCUBE3_chr6_35208956_35258079	35226479	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG04204.hp2 HG03669.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0173 a0001c0001t0010g0175 a0001c0001t0010g0173 a0001c0001t0010g0175	2	290	0.0069	11	c.86- others(26): Show c.86-1101_86-1100insTTTTTTTTTTT	SCUBE3	ENSG00000146197.9	transcript	ENST00000274938.8	protein_coding	1/21			chr6	TogoVar
SCX_chr8_144261453_144273481	144266177	G G	GTCCCGCT others(4): Show GTCCCGCTGATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02145.hp1 HG02970.hp2 others(2): Show HG02109.hp2 HG02145.hp1 HG02970.hp2 HG03098.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	5	440	0.0114	11	c.-43 others(20): Show c.-437_-436insTCCCGCTGATC	SCX	ENSG00000260428.3	transcript	ENST00000567180.3	protein_coding		275		chr8	TogoVar
SCYGR3_chr2_227609538_227619840	227610047	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp1 NA18983.hp2 NA19011.hp2 HG04184.hp1 NA18983.hp2 NA19011.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0000 a0002c0003t0001g0000 a0001c0001t0001g0000 a0002c0003t0001g0000	3	462	0.0065	11	c.44 others(22): Show c.4490_*4491insTTTTTTTTTTT	SCYGR3	ENSG00000284704.1	transcript	ENST00000642029.1	protein_coding		4490		chr2	TogoVar
SCYL3_chr1_169844631_169898896	169850980	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02970.hp1 NA18973.hp1 NA18985.hp1 others(3): Show HG02970.hp1 NA18973.hp1 NA18985.hp1 NA18994.hp1 NA19010.hp2 NA19068.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0028 a0001c0001t0042 a0004c0005t0075 a0001c0001t0028 a0001c0001t0042 a0004c0005t0075	a0001c0001t0028g0091 a0001c0001t0028g0095 a0001c0001t0028g0098 others(3): Show a0001c0001t0028g0091 a0001c0001t0028g0095 a0001c0001t0028g0098 a0001c0001t0042g0080 a0001c0001t0042g0086 a0004c0005t0075g0077	6	418	0.0144	11	c.27 others(22): Show c.2722_*2732dupAAAAAAAAAAA	SCYL3	ENSG00000000457.14	transcript	ENST00000367771.11	protein_coding	13/13	2732		chr1	TogoVar
SCYL3_chr1_169844631_169898896	169851045	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00597.hp2 NA18962.hp2 HG00597.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0098 a0001c0001t0099 a0001c0001t0098 a0001c0001t0099	a0001c0001t0098g0301 a0001c0001t0099g0270 a0001c0001t0098g0301 a0001c0001t0099g0270	2	418	0.0048	11	c.26 others(22): Show c.2657_*2667dupAAAAAAAAAAA	SCYL3	ENSG00000000457.14	transcript	ENST00000367771.11	protein_coding	13/13	2667		chr1	TogoVar
SDAD1_chr4_75944915_75995945	75978982	G G	GAAAAAAA others(4): Show GAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG00639.hp1 others(31): Show HG00438.hp2 HG00544.hp1 HG00639.hp1 HG00642.hp2 HG01109.hp2 HG01175.hp2 HG01243.hp1 HG01258.hp2 HG01346.hp1 HG01361.hp2 HG01433.hp2 HG01928.hp2 HG02027.hp1 HG02135.hp2 HG02257.hp2 HG02602.hp1 HG03927.hp1 NA18948.hp1 NA18952.hp1 NA18955.hp2 NA18964.hp1 NA18968.hp2 NA18974.hp1 NA18983.hp1 NA18984.hp1 NA18987.hp1 NA18988.hp1 NA18988.hp2 NA18995.hp1 NA19003.hp2 NA19004.hp2 NA19068.hp2 NA19074.hp1 NA19084.hp1	a0001 a0003 a0005 others(3): Show a0001 a0003 a0005 a0006 a0009 a0012	a0001c0001 a0001c0002 a0001c0005 others(6): Show a0001c0001 a0001c0002 a0001c0005 a0003c0004 a0003c0008 a0005c0009 a0006c0015 a0009c0014 a0012c0017	a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 others(9): Show a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0005t0002 a0001c0005t0006 a0003c0004t0003 a0003c0008t0005 a0005c0009t0002 a0006c0015t0001 a0009c0014t0001 a0012c0017t0001	a0001c0001t0008g0158 a0001c0002t0001g0001 a0001c0002t0001g0013 others(27): Show a0001c0001t0008g0158 a0001c0002t0001g0001 a0001c0002t0001g0013 a0001c0002t0001g0288 a0001c0002t0001g0295 a0001c0002t0001g0305 a0001c0002t0001g0308 a0001c0002t0001g0311 a0001c0002t0001g0314 a0001c0002t0001g0316 a0001c0002t0001g0331 a0001c0002t0001g0332 a0001c0002t0001g0333 a0001c0002t0001g0349 a0001c0002t0001g0355 a0001c0002t0001g0357 a0001c0002t0001g0358 a0001c0002t0002g0296 a0001c0002t0002g0315 a0001c0002t0002g0330 a0001c0002t0003g0303 a0001c0005t0002g0299 a0001c0005t0002g0344 a0001c0005t0006g0298 a0003c0004t0003g0202 a0003c0008t0005g0192 a0005c0009t0002g0014 a0006c0015t0001g0328 a0009c0014t0001g0304 a0012c0017t0001g0329	34	376	0.0904	11	c.295 others(28): Show c.295-1237_295-1227dupTTTTTTTTTTT	SDAD1	ENSG00000198301.12	transcript	ENST00000356260.10	protein_coding	3/21			chr4	TogoVar
SDAD1_chr4_75944915_75995945	75984778	A A	ACACACAC others(4): Show ACACACACACAC	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0213 a0001c0001t0003g0213	1	376	0.0027	11	c.91- others(26): Show c.91-2742_91-2741insGTGTGTGTGTG	SDAD1	ENSG00000198301.12	transcript	ENST00000356260.10	protein_coding	1/21			chr4	TogoVar
SDAD1_chr4_75944915_75995945	75994043	A A	ATATATAT others(4): Show ATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA20129.hp2 NA19043.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0010 a0001c0001t0004g0263 a0001c0001t0004g0010 a0001c0001t0004g0263	2	376	0.0053	11	c.-32 others(22): Show c.-3203_-3202insATATATATATA	SDAD1	ENSG00000198301.12	transcript	ENST00000356260.10	protein_coding		3099		chr4	TogoVar
SDAD1_chr4_75944915_75995945	75994045	A A	AAAAATAT others(4): Show AAAAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0138 a0001c0001t0004g0138	1	376	0.0027	11	c.-32 others(22): Show c.-3205_-3204insATATATATTTT	SDAD1	ENSG00000198301.12	transcript	ENST00000356260.10	protein_coding		3101		chr4	TogoVar
SDC2_chr8_96488813_96616790	96532412	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA20300.hp2 HG02886.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0078 a0002c0002t0002g0083 a0002c0002t0002g0078 a0002c0002t0002g0083	2	334	0.0060	11	c.60+ others(28): Show c.60+38094_60+38104dupTTTTTTTTTTT	SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
SDC2_chr8_96488813_96616790	96565084	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG00597.hp2 others(16): Show HG00408.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG02055.hp1 HG02155.hp1 HG02486.hp1 HG02523.hp2 HG02895.hp1 HG03516.hp1 HG03834.hp1 NA18946.hp1 NA18956.hp1 NA18984.hp2 NA18994.hp1 NA18999.hp2 NA19058.hp2 NA19063.hp2 NA19085.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0002c0005 a0003c0004	a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 others(8): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0005t0001 a0002c0005t0003 a0002c0005t0004 a0003c0004t0002	a0001c0001t0001g0005 a0001c0001t0001g0205 a0001c0001t0001g0210 others(16): Show a0001c0001t0001g0005 a0001c0001t0001g0205 a0001c0001t0001g0210 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0003t0001g0011 a0001c0003t0001g0032 a0001c0003t0001g0247 a0001c0003t0001g0255 a0001c0003t0001g0269 a0001c0003t0002g0304 a0001c0003t0003g0207 a0002c0002t0001g0143 a0002c0002t0002g0157 a0002c0002t0003g0202 a0002c0005t0001g0209 a0002c0005t0003g0320 a0002c0005t0004g0250 a0003c0004t0002g0112	19	334	0.0569	11	c.61- others(28): Show c.61-28391_61-28381dupTTTTTTTTTTT	SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
SDC2_chr8_96488813_96616790	96576379	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00642.hp2 HG01070.hp2 others(6): Show HG00408.hp1 HG00642.hp2 HG01070.hp2 HG04115.hp2 NA18949.hp1 NA18981.hp1 NA18989.hp1 NA18994.hp2 NA19000.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0005 a0001c0003 a0002c0005	a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 others(3): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0002c0005t0001 a0002c0005t0004 a0002c0005t0005	a0001c0003t0001g0050 a0001c0003t0001g0297 a0001c0003t0002g0115 others(6): Show a0001c0003t0001g0050 a0001c0003t0001g0297 a0001c0003t0002g0115 a0001c0003t0002g0304 a0001c0003t0002g0307 a0001c0003t0003g0166 a0002c0005t0001g0022 a0002c0005t0004g0281 a0002c0005t0005g0164	9	334	0.0270	11	c.61- others(28): Show c.61-17097_61-17096insTTTTTTTTTTT	SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
SDCBP2_chr20_1304909_1334139	1313919	C C	CCCTCTCC others(4): Show CCCTCTCCACAA	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0012 a0012	a0012c0014 a0012c0014	a0012c0014t0002 a0012c0014t0002	a0012c0014t0002g0055 a0012c0014t0002g0055	1	430	0.0023	11	c.226 others(26): Show c.226-422_226-421insTTGTGGAGAGG	SDCBP2	ENSG00000125775.15	transcript	ENST00000360779.4	protein_coding	4/8			chr20	TogoVar
SDCCAG8_chr1_243251041_243505091	243296535	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	189	0.0053	11	c.675 others(28): Show c.675+3331_675+3341dupTTTTTTTTTTT	SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDCCAG8_chr1_243251041_243505091	243327407	T T	TTAAAATT others(4): Show TTAAAATTATAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01070.hp2 HG01106.hp2 others(15): Show HG00738.hp1 HG01070.hp2 HG01106.hp2 HG01109.hp2 HG01981.hp2 HG02109.hp2 HG02258.hp1 HG02451.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02717.hp1 HG02922.hp2 HG03209.hp1 HG03486.hp1 HG03540.hp2 HG03579.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 others(15): Show a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0002t0001g0046 a0001c0002t0002g0081 a0001c0002t0002g0082	18	189	0.0952	11	c.106 others(30): Show c.1069-3132_1069-3131insAAAATTATAAT	SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDF2_chr17_28643346_28666906	28663828	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 NA18963.hp1 NA18988.hp2 others(2): Show HG02074.hp1 NA18963.hp1 NA18988.hp2 NA18990.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0144 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0144	5	398	0.0126	11	c.-19 others(22): Show c.-1963_-1953dupAAAAAAAAAAA	SDF2	ENSG00000132581.10	transcript	ENST00000247020.9	protein_coding		1923		chr17	TogoVar
SDHAF3_chr7_97112698_97186763	97142042	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00609.hp2 HG01099.hp2 others(25): Show HG00423.hp2 HG00609.hp2 HG01099.hp2 HG01123.hp2 HG01261.hp2 HG01433.hp1 HG01978.hp1 HG02027.hp1 HG02074.hp1 HG02083.hp2 HG02135.hp1 HG02300.hp2 HG02698.hp2 HG02738.hp2 HG04228.hp1 NA18949.hp2 NA18965.hp2 NA18979.hp1 NA18988.hp1 NA18990.hp2 NA18998.hp2 NA19002.hp1 NA19004.hp1 NA19062.hp1 NA19066.hp1 NA19075.hp1 NA19080.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0314 a0001c0001t0001g0319 a0001c0001t0001g0321 others(25): Show a0001c0001t0001g0314 a0001c0001t0001g0319 a0001c0001t0001g0321 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0335 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0343 a0001c0001t0001g0346 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0001g0366 a0001c0001t0001g0368 a0001c0001t0001g0369 a0001c0001t0001g0372 a0001c0001t0001g0377 a0001c0001t0001g0380 a0001c0001t0001g0381 a0001c0001t0001g0382 a0001c0001t0001g0383 a0001c0001t0001g0384	28	402	0.0697	11	c.174 others(30): Show c.174+24164_174+24174dupTTTTTTTTTTT	SDHAF3	ENSG00000196636.8	transcript	ENST00000432641.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDHAF4_chr6_70561930_70594569	70565183	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG01243.hp1 HG02717.hp2 others(1): Show HG00642.hp2 HG01243.hp1 HG02717.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0004 a0001c0001t0002 a0002c0002t0004	a0001c0001t0002g0010 a0001c0001t0002g0217 a0002c0002t0004g0052 others(1): Show a0001c0001t0002g0010 a0001c0001t0002g0217 a0002c0002t0004g0052 a0002c0002t0004g0053	4	370	0.0108	11	c.-17 others(22): Show c.-1758_-1757insTTTTTTTTTTT	SDHAF4	ENSG00000154079.6	transcript	ENST00000370474.4	protein_coding		1746		chr6	TogoVar
SDHAF4_chr6_70561930_70594569	70573264	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00323.hp2 others(26): Show HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00597.hp1 HG00609.hp1 HG00673.hp1 HG00733.hp1 HG00738.hp1 HG01255.hp1 HG01516.hp1 HG01981.hp2 HG02257.hp2 HG02698.hp1 HG02896.hp2 HG03540.hp2 HG03704.hp1 HG03704.hp2 HG04204.hp1 NA18939.hp1 NA18943.hp2 NA18962.hp2 NA18965.hp2 NA18966.hp1 NA18968.hp2 NA18980.hp1 NA18985.hp1 NA18990.hp1 NA19240.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 a0001c0001 a0002c0002 a0002c0004	a0001c0001t0001 a0002c0002t0003 a0002c0002t0004 others(6): Show a0001c0001t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0008 a0002c0002t0010 a0002c0002t0015 a0002c0002t0022 a0002c0004t0011 a0002c0004t0012	a0001c0001t0001g0049 a0002c0002t0003g0025 a0002c0002t0003g0058 others(24): Show a0001c0001t0001g0049 a0002c0002t0003g0025 a0002c0002t0003g0058 a0002c0002t0003g0059 a0002c0002t0003g0070 a0002c0002t0003g0072 a0002c0002t0003g0073 a0002c0002t0003g0074 a0002c0002t0003g0079 a0002c0002t0003g0080 a0002c0002t0003g0085 a0002c0002t0004g0023 a0002c0002t0004g0046 a0002c0002t0004g0048 a0002c0002t0004g0051 a0002c0002t0004g0087 a0002c0002t0008g0044 a0002c0002t0008g0071 a0002c0002t0008g0077 a0002c0002t0010g0050 a0002c0002t0015g0047 a0002c0002t0015g0088 a0002c0002t0022g0045 a0002c0004t0011g0068 a0002c0004t0011g0078 a0002c0004t0012g0067 a0002c0004t0012g0069	29	370	0.0784	11	c.65- others(26): Show c.65-6143_65-6133dupTTTTTTTTTTT	SDHAF4	ENSG00000154079.6	transcript	ENST00000370474.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar

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