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
SCML4_chr6_107697154_107829313	107778222	A A	AAAAAAAT others(8): Show AAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	174	0.0057	15	c.-59 others(32): Show c.-59-5837_-59-5836insATATATATATTTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107817620	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0138 a0001c0001t0019g0138	1	136	0.0074	15	c.-60 others(32): Show c.-60+6491_-60+6505dupTTTTTTTTTTTTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCN10A_chr3_38691807_38821217	38736963	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00733.hp2 HG01192.hp1 others(5): Show HG00323.hp2 HG00733.hp2 HG01192.hp1 HG01884.hp2 HG02055.hp1 HG02922.hp1 HG03139.hp1 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0006 others(2): Show a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0018	a0001c0003t0001 a0001c0004t0001 a0001c0006t0002 others(3): Show a0001c0003t0001 a0001c0004t0001 a0001c0006t0002 a0001c0007t0001 a0001c0018t0002 a0001c0018t0003	a0001c0003t0001g0301 a0001c0004t0001g0359 a0001c0006t0002g0136 others(5): Show a0001c0003t0001g0301 a0001c0004t0001g0359 a0001c0006t0002g0136 a0001c0006t0002g0139 a0001c0006t0002g0334 a0001c0007t0001g0131 a0001c0018t0002g0121 a0001c0018t0003g0007	8	134	0.0597	15	c.228 others(34): Show c.2280+2537_2280+2551dupAAAAAAAAAAAAAAA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	15/27			chr3	TogoVar
SCN10A_chr3_38691807_38821217	38737798	C C	CTCTTTCT others(8): Show CTCTTTCTTTCTTCTT	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0002 a0002	a0002c0024 a0002c0024	a0002c0024t0001 a0002c0024t0001	a0002c0024t0001g0182 a0002c0024t0001g0182	1	127	0.0079	15	c.228 others(34): Show c.2280+1716_2280+1717insAAGAAGAAAGAAAGA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	15/27			chr3	TogoVar
SCN10A_chr3_38691807_38821217	38737829	T T	TTTCTTTC others(8): Show TTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0011 a0011	a0011c0028 a0011c0028	a0011c0028t0001 a0011c0028t0001	a0011c0028t0001g0247 a0011c0028t0001g0247	1	370	0.0027	15	c.228 others(34): Show c.2280+1685_2280+1686insGAAAGAAAGAAAGAA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	15/27			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38889802	A A	AAAAATAA others(8): Show AAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA19062.hp2 HG02523.hp2 NA19062.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0015 a0002c0003t0001g0033 a0002c0003t0001g0015 a0002c0003t0001g0033	2	63	0.0317	15	c.283 others(34): Show c.2836-3579_2836-3565dupATTTTATTTTATTTT	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	19/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38950057	A A	ACCCCCCC others(8): Show ACCCCCCCCCACCCCC	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA19068.hp2 HG02723.hp1 NA19068.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0006 a0001c0006t0003 a0001c0006t0006	a0001c0006t0003g0288 a0001c0006t0006g0293 a0001c0006t0003g0288 a0001c0006t0006g0293	2	298	0.0067	15	c.267 others(28): Show c.267+38_267+39insGGGGGTGGGGGGGGG	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	5/29			chr3	TogoVar
SCN2A_chr2_165234414_165397304	165265396	T T	TATTAGAC others(8): Show TATTAGACCTTTGTCA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00741.hp1 HG01099.hp1 others(8): Show HG00639.hp2 HG00741.hp1 HG01099.hp1 HG01192.hp2 HG01346.hp2 HG01496.hp1 HG02647.hp1 HG03098.hp1 HG04115.hp2 HG04199.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0008t0001	a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0343 others(8): Show a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0348 a0001c0001t0003g0330 a0001c0001t0012g0341 a0001c0008t0001g0296 a0001c0008t0001g0337	11	356	0.0309	15	c.-52 others(34): Show c.-52+25757_-52+25771dupATTAGACCTTTGTCA	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN2A_chr2_165234414_165397304	165291491	T T	TTTCTTTC others(8): Show TTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02897.hp2 HG00741.hp2 HG02897.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0001 a0001c0001t0002 a0002c0003t0001	a0001c0001t0002g0197 a0002c0003t0001g0309 a0001c0001t0002g0197 a0002c0003t0001g0309	2	208	0.0096	15	c.-51 others(32): Show c.-51-4280_-51-4279insCTTTCTTTCTTTCTT	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN2A_chr2_165234414_165397304	165303270	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA19088.hp2 HG02723.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0245 a0001c0001t0001g0202 a0001c0001t0001g0245	2	40	0.0500	15	c.387 others(32): Show c.387-4569_387-4555dupTTTTTTTTTTTTTTT	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN2A_chr2_165234414_165397304	165350464	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02572.hp1 HG02572.hp2 others(2): Show HG02109.hp1 HG02572.hp1 HG02572.hp2 HG03139.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0007 a0001c0001 a0001c0006 a0001c0007	a0001c0001t0002 a0001c0001t0016 a0001c0006t0002 others(1): Show a0001c0001t0002 a0001c0001t0016 a0001c0006t0002 a0001c0007t0002	a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0016g0304 others(2): Show a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0016g0304 a0001c0006t0002g0355 a0001c0007t0002g0133	5	159	0.0314	15	c.292 others(34): Show c.2920-3716_2920-3702dupTTTTTTTTTTTTTTT	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	16/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN2A_chr2_165234414_165397304	165392742	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp1 HG02572.hp1 HG03098.hp2 others(6): Show HG01517.hp1 HG02572.hp1 HG03098.hp2 HG06807.hp1 NA18945.hp1 NA18950.hp1 NA18992.hp2 NA19007.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0002 a0001c0001t0016	a0001c0001t0002g0103 a0001c0001t0002g0117 a0001c0001t0002g0121 others(6): Show a0001c0001t0002g0103 a0001c0001t0002g0117 a0001c0001t0002g0121 a0001c0001t0002g0155 a0001c0001t0002g0266 a0001c0001t0002g0273 a0001c0001t0002g0293 a0001c0001t0002g0313 a0001c0001t0016g0304	9	100	0.0900	15	c.29 others(26): Show c.2918_*2919insAAAAAAAAAAAAAAA	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding		439		chr2	TogoVar
SCN3B_chr11_123624188_123659624	123625936	A A	AGAGAGAG others(8): Show AGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	198	0.0051	15	c.78 others(26): Show c.7862_*7863insCTCTCTCTCTCTCTC	SCN3B	ENSG00000166257.10	transcript	ENST00000299333.8	protein_coding		3251		chr11	TogoVar
SCN5A_chr3_38543062_38654687	38555105	A A	ATATATAT others(8): Show ATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0206 a0001c0002t0001g0206	1	89	0.0112	15	c.454 others(32): Show c.4542+550_4542+551insAAATATATATATATA	SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding	26/27			chr3	TogoVar
SCN5A_chr3_38543062_38654687	38555105	A A	ATATATTT others(8): Show ATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0001 a0002c0006t0003g0001	1	89	0.0112	15	c.454 others(32): Show c.4542+550_4542+551insAAAAAAAAAAATATA	SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding	26/27			chr3	TogoVar
SCN5A_chr3_38543062_38654687	38555105	A A	ATATTTTT others(8): Show ATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0001 a0002c0006t0003g0001	1	89	0.0112	15	c.454 others(32): Show c.4542+550_4542+551insAAAAAAAAAAAAATA	SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding	26/27			chr3	TogoVar
SCN5A_chr3_38543062_38654687	38616976	G G	GGCTGGAG others(8): Show GGCTGGAGGGCTGCAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp2 HG00558.hp2 others(91): Show HG00140.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00673.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01109.hp1 HG01175.hp2 HG01243.hp1 HG01346.hp2 HG01891.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG02027.hp2 HG02055.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp2 HG02145.hp1 HG02280.hp1 HG02486.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02683.hp2 HG02735.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03453.hp1 HG03471.hp1 HG03490.hp2 HG03654.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG04228.hp2 NA18939.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18966.hp1 NA18971.hp1 NA18982.hp1 NA18984.hp2 NA18986.hp1 NA18988.hp1 NA18990.hp2 NA18992.hp1 NA18993.hp1 NA18995.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp2 NA19005.hp2 NA19030.hp1 NA19056.hp2 NA19057.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19079.hp2 NA19080.hp1 NA19083.hp2 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA20805.hp1 NA20905.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0008 a0009 a0011 a0013 a0018 a0019 a0021 a0023	a0001c0001 a0001c0002 a0001c0003 others(26): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0012 a0001c0022 a0001c0031 a0001c0039 a0001c0047 a0001c0050 a0001c0051 a0001c0055 a0002c0005 a0002c0006 a0002c0009 a0002c0013 a0003c0028 a0003c0075 a0003c0076 a0008c0021 a0009c0041 a0009c0042 a0011c0032 a0013c0048 a0018c0057 a0019c0053 a0021c0056 a0023c0034	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(33): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0014 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0006 a0001c0004t0001 a0001c0008t0002 a0001c0012t0001 a0001c0022t0006 a0001c0031t0004 a0001c0039t0001 a0001c0047t0001 a0001c0050t0003 a0001c0051t0002 a0001c0055t0019 a0002c0005t0001 a0002c0006t0003 a0002c0006t0005 a0002c0009t0007 a0002c0013t0001 a0003c0028t0003 a0003c0075t0001 a0003c0076t0001 a0008c0021t0002 a0009c0041t0003 a0009c0042t0002 a0011c0032t0001 a0013c0048t0001 a0018c0057t0001 a0019c0053t0009 a0021c0056t0001 a0023c0034t0002	a0001c0001t0002g0025 a0001c0001t0002g0174 a0001c0001t0002g0208 others(88): Show a0001c0001t0002g0025 a0001c0001t0002g0174 a0001c0001t0002g0208 a0001c0001t0002g0231 a0001c0001t0002g0309 a0001c0001t0003g0163 a0001c0001t0003g0262 a0001c0001t0004g0138 a0001c0001t0004g0188 a0001c0001t0004g0288 a0001c0001t0004g0317 a0001c0001t0004g0328 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0148 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0166 a0001c0002t0001g0187 a0001c0002t0001g0193 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0210 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0253 a0001c0002t0001g0273 a0001c0002t0001g0282 a0001c0002t0001g0301 a0001c0002t0001g0307 a0001c0002t0001g0318 a0001c0002t0001g0320 a0001c0002t0001g0324 a0001c0002t0001g0326 a0001c0002t0014g0254 a0001c0003t0002g0068 a0001c0003t0002g0085 a0001c0003t0002g0199 a0001c0003t0002g0293 a0001c0003t0003g0084 a0001c0003t0003g0181 a0001c0003t0004g0072 a0001c0003t0004g0207 a0001c0003t0006g0203 a0001c0004t0001g0005 a0001c0004t0001g0069 a0001c0004t0001g0074 a0001c0004t0001g0075 a0001c0004t0001g0076 a0001c0004t0001g0099 a0001c0004t0001g0100 a0001c0004t0001g0101 a0001c0004t0001g0116 a0001c0004t0001g0117 a0001c0004t0001g0140 a0001c0004t0001g0180 a0001c0004t0001g0182 a0001c0004t0001g0183 a0001c0004t0001g0184 a0001c0004t0001g0185 a0001c0004t0001g0202 a0001c0008t0002g0026 a0001c0012t0001g0020 a0001c0022t0006g0234 a0001c0022t0006g0302 a0001c0031t0004g0073 a0001c0039t0001g0065 a0001c0047t0001g0325 a0001c0050t0003g0283 a0001c0051t0002g0009 a0001c0055t0019g0033 a0002c0005t0001g0226 a0002c0005t0001g0244 a0002c0005t0001g0245 a0002c0006t0003g0001 a0002c0006t0003g0230 a0002c0006t0005g0225 a0002c0009t0007g0015 a0002c0013t0001g0201 a0003c0028t0003g0215 a0003c0075t0001g0055 a0003c0076t0001g0287 a0008c0021t0002g0189 a0009c0041t0003g0056 a0009c0042t0002g0057 a0011c0032t0001g0200 a0013c0048t0001g0046 a0018c0057t0001g0094 a0019c0053t0009g0233 a0021c0056t0001g0016 a0023c0034t0002g0093	94	338	0.2781	15	c.612 others(32): Show c.612-2911_612-2910insTTGCAGCCCTCCAGC	SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding	5/27			chr3	TogoVar
SCN7A_chr2_166398573_166499249	166414003	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0346 a0001c0001t0003g0346	1	392	0.0026	15	c.341 others(32): Show c.3415-883_3415-882insATATATATATATATA	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	21/25			chr2	TogoVar
SCN8A_chr12_51586233_51817864	51677056	G G	GTTTTATT others(8): Show GTTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG03041.hp2 NA18906.hp1 others(1): Show HG01255.hp2 HG03041.hp2 NA18906.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0013 a0001c0001 a0001c0002 a0001c0013	a0001c0001t0005 a0001c0002t0001 a0001c0013t0001 a0001c0001t0005 a0001c0002t0001 a0001c0013t0001	a0001c0001t0005g0126 a0001c0002t0001g0138 a0001c0002t0001g0141 others(1): Show a0001c0001t0005g0126 a0001c0002t0001g0138 a0001c0002t0001g0141 a0001c0013t0001g0102	4	76	0.0526	15	c.277 others(32): Show c.277-7077_277-7063dupTTTTATTTTATTTTA	SCN8A	ENSG00000196876.19	transcript	ENST00000354534.11	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
SCN8A_chr12_51586233_51817864	51788287	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02622.hp1 HG02818.hp2 HG02572.hp2 HG02622.hp1 HG02818.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0022 a0001c0003t0010 a0001c0003t0022	a0001c0003t0010g0061 a0001c0003t0010g0201 a0001c0003t0022g0066 a0001c0003t0010g0061 a0001c0003t0010g0201 a0001c0003t0022g0066	3	40	0.0750	15	c.422 others(32): Show c.4228-401_4228-387dupTTTTTTTTTTTTTTT	SCN8A	ENSG00000196876.19	transcript	ENST00000354534.11	protein_coding	22/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
SCN9A_chr2_166190185_166380944	166199975	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02027.hp2 HG02976.hp2 HG00738.hp1 HG02027.hp2 HG02976.hp2	a0001 a0008 a0022 a0001 a0008 a0022	a0001c0003 a0008c0044 a0022c0047 a0001c0003 a0008c0044 a0022c0047	a0001c0003t0001 a0008c0044t0001 a0022c0047t0005 a0001c0003t0001 a0008c0044t0001 a0022c0047t0005	a0001c0003t0001g0286 a0008c0044t0001g0182 a0022c0047t0005g0072 a0001c0003t0001g0286 a0008c0044t0001g0182 a0022c0047t0005g0072	3	22	0.1364	15	c.477 others(32): Show c.4775-126_4775-112dupAAAAAAAAAAAAAAA	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	26/26			chr2	TogoVar
SCN9A_chr2_166190185_166380944	166228247	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02723.hp2 HG02809.hp1 others(2): Show HG01891.hp1 HG02723.hp2 HG02809.hp1 HG02896.hp2 HG03540.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0001c0003 a0001c0005 others(2): Show a0001c0002 a0001c0003 a0001c0005 a0001c0011 a0004c0008	a0001c0002t0006 a0001c0003t0006 a0001c0005t0002 others(2): Show a0001c0002t0006 a0001c0003t0006 a0001c0005t0002 a0001c0011t0006 a0004c0008t0006	a0001c0002t0006g0269 a0001c0003t0006g0078 a0001c0005t0002g0074 others(2): Show a0001c0002t0006g0269 a0001c0003t0006g0078 a0001c0005t0002g0074 a0001c0011t0006g0194 a0004c0008t0006g0077	5	141	0.0355	15	c.420 others(32): Show c.4206+429_4206+443dupAAAAAAAAAAAAAAA	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	22/26			chr2	TogoVar
SCN9A_chr2_166190185_166380944	166297196	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01099.hp1 HG02572.hp2 others(1): Show HG00741.hp1 HG01099.hp1 HG02572.hp2 HG04228.hp2	a0001 a0006 a0007 a0001 a0006 a0007	a0001c0002 a0006c0010 a0007c0019 a0001c0002 a0006c0010 a0007c0019	a0001c0002t0001 a0006c0010t0002 a0007c0019t0004 a0001c0002t0001 a0006c0010t0002 a0007c0019t0004	a0001c0002t0001g0017 a0001c0002t0001g0168 a0006c0010t0002g0113 others(1): Show a0001c0002t0001g0017 a0001c0002t0001g0168 a0006c0010t0002g0113 a0007c0019t0004g0251	4	55	0.0727	15	c.902 others(32): Show c.902-2549_902-2535dupTTTTTTTTTTTTTTT	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	7/26			chr2	TogoVar
SCN9A_chr2_166190185_166380944	166311377	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0165 a0001c0001t0002g0165	1	288	0.0035	15	c.258 others(30): Show c.258+121_258+122insTATATATATATATAT	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	2/26			chr2	TogoVar
SCN9A_chr2_166190185_166380944	166370223	A A	AATCATCA others(8): Show AATCATCATCATCATC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02615.hp2 NA20129.hp2 HG02572.hp2 HG02615.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0054 a0001c0002 a0001c0003 a0001c0054	a0001c0002t0001 a0001c0003t0013 a0001c0054t0001 a0001c0002t0001 a0001c0003t0013 a0001c0054t0001	a0001c0002t0001g0017 a0001c0003t0013g0289 a0001c0054t0001g0016 a0001c0002t0001g0017 a0001c0003t0013g0289 a0001c0054t0001g0016	3	179	0.0168	15	c.-51 others(32): Show c.-51+5473_-51+5474insGATGATGATGATGAT	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	1/26			chr2	TogoVar
SCN9A_chr2_166190185_166380944	166370226	A A	AATCATCA others(8): Show AATCATCATCATCATC	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0264 a0001c0012t0001g0264	1	124	0.0081	15	c.-51 others(32): Show c.-51+5470_-51+5471insGATGATGATGATGAT	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	1/26			chr2	TogoVar
SCN9A_chr2_166190185_166380944	166370229	A A	AATCATCA others(8): Show AATCATCATCATCATC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0012 a0001c0007t0012	a0001c0007t0012g0018 a0001c0007t0012g0018	1	57	0.0175	15	c.-51 others(32): Show c.-51+5467_-51+5468insGATGATGATGATGAT	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	1/26			chr2	TogoVar
SCN9A_chr2_166190185_166380944	166370235	A A	AATCATCA others(8): Show AATCATCATCATCATC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00609.hp1 HG02015.hp1 others(1): Show HG00140.hp1 HG00609.hp1 HG02015.hp1 HG02040.hp2	a0001 a0010 a0016 a0001 a0010 a0016	a0001c0002 a0010c0048 a0016c0049 a0001c0002 a0010c0048 a0016c0049	a0001c0002t0001 a0010c0048t0003 a0016c0049t0004 a0001c0002t0001 a0010c0048t0003 a0016c0049t0004	a0001c0002t0001g0232 a0001c0002t0001g0235 a0010c0048t0003g0234 others(1): Show a0001c0002t0001g0232 a0001c0002t0001g0235 a0010c0048t0003g0234 a0016c0049t0004g0233	4	5	0.8000	15	c.-51 others(32): Show c.-51+5447_-51+5461dupGATGATGATGATGAT	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	1/26			chr2	TogoVar
SCNN1B_chr16_23297302_23386294	23301366	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02818.hp2 HG03139.hp1 HG02145.hp1 HG02818.hp2 HG03139.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0001 a0001c0001t0004 a0002c0007t0001 a0001c0001t0001 a0001c0001t0004 a0002c0007t0001	a0001c0001t0001g0086 a0001c0001t0004g0085 a0002c0007t0001g0087 a0001c0001t0001g0086 a0001c0001t0004g0085 a0002c0007t0001g0087	3	279	0.0108	15	c.-10 others(26): Show c.-1080_-1079insAAAAAAAAAAAAAAG	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding		935		chr16	TogoVar
SCNN1B_chr16_23297302_23386294	23305524	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	201	0.0050	15	c.-9+ others(30): Show c.-9+3087_-9+3088insTATATATATATATAT	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	1/12			chr16	TogoVar
SCNN1B_chr16_23297302_23386294	23316028	A A	ATCACCAT others(8): Show ATCACCATCGCCATCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00408.hp1 others(182): Show HG00099.hp1 HG00323.hp1 HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp2 HG01346.hp2 HG01358.hp1 HG01496.hp2 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01993.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18948.hp2 NA18949.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18991.hp1 NA18995.hp2 NA19003.hp1 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19074.hp1 NA19083.hp2 NA19085.hp1 NA19086.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0006 a0007	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0008 a0001c0009 a0001c0011 a0001c0013 a0001c0015 a0002c0004 a0002c0007 a0003c0005 a0005c0010 a0006c0016 a0007c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0002t0001 a0001c0003t0001 a0001c0006t0001 a0001c0008t0001 a0001c0008t0003 a0001c0009t0001 a0001c0011t0001 a0001c0013t0001 a0001c0015t0001 a0002c0004t0001 a0002c0007t0001 a0003c0005t0001 a0005c0010t0001 a0006c0016t0001 a0007c0014t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(182): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0155 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0223 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0002g0039 a0001c0001t0002g0061 a0001c0001t0004g0085 a0001c0001t0007g0292 a0001c0002t0001g0006 a0001c0002t0001g0019 a0001c0002t0001g0023 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0212 a0001c0002t0001g0217 a0001c0003t0001g0068 a0001c0003t0001g0074 a0001c0003t0001g0077 a0001c0003t0001g0079 a0001c0003t0001g0080 a0001c0003t0001g0081 a0001c0003t0001g0084 a0001c0003t0001g0090 a0001c0003t0001g0131 a0001c0003t0001g0135 a0001c0003t0001g0229 a0001c0003t0001g0247 a0001c0003t0001g0270 a0001c0003t0001g0271 a0001c0003t0001g0288 a0001c0003t0001g0289 a0001c0003t0001g0290 a0001c0003t0001g0291 a0001c0003t0001g0294 a0001c0006t0001g0257 a0001c0008t0001g0228 a0001c0008t0001g0293 a0001c0008t0003g0091 a0001c0009t0001g0022 a0001c0011t0001g0013 a0001c0013t0001g0064 a0001c0015t0001g0073 a0002c0004t0001g0005 a0002c0004t0001g0021 a0002c0004t0001g0032 a0002c0004t0001g0059 a0002c0004t0001g0082 a0002c0004t0001g0234 a0002c0007t0001g0087 a0002c0007t0001g0283 a0002c0007t0001g0287 a0003c0005t0001g0004 a0003c0005t0001g0066 a0003c0005t0001g0067 a0003c0005t0001g0075 a0005c0010t0001g0124 a0006c0016t0001g0076 a0007c0014t0001g0078	185	304	0.6086	15	c.-9+ others(32): Show c.-9+13603_-9+13604insTCCTCACCATCGCCA	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1B_chr16_23297302_23386294	23343648	A A	AAAGAAAG others(8): Show AAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	303	0.0033	15	c.-8- others(30): Show c.-8-4942_-8-4941insGAAAGAAAGAAAGAA	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1B_chr16_23297302_23386294	23343656	A A	AAAGAAAA others(8): Show AAAGAAAAAAGAAAGG	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	220	0.0045	15	c.-8- others(30): Show c.-8-4933_-8-4932insAAAAAAGAAAGGAAG	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(8): Show GAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	204	0.0049	15	c.777 others(32): Show c.777-2238_777-2237insGAAAGAAAGAAAGAA	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1B_chr16_23297302_23386294	23365620	A A	AGAGAAAG others(8): Show AGAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02071.hp2 HG02109.hp2 others(2): Show HG01496.hp2 HG02071.hp2 HG02109.hp2 HG04184.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0052 a0001c0001t0001g0056 others(2): Show a0001c0001t0001g0020 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0238 a0001c0001t0001g0278	5	183	0.0273	15	c.777 others(32): Show c.777-2236_777-2235insGAGAAAGAAAGAAAG	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	4/12			chr16	TogoVar
SCNN1B_chr16_23297302_23386294	23374268	G G	GAAAAAAA others(8): Show GAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02004.hp1 HG01361.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0165 a0001c0001t0001g0166	2	84	0.0238	15	c.115 others(34): Show c.1153-1463_1153-1449dupAAAAAAAAAAAAAAA	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1D_chr1_1275436_1297025	1289672	C C	CGTGTCTC others(8): Show CGTGTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0013 a0002c0003t0002g0013	1	287	0.0035	15	c.166 others(32): Show c.1663-599_1663-598insGTGTCTCTGCCCCGT	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17			chr1	TogoVar
SCNN1G_chr16_23177745_23221883	23180597	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00558.hp2 HG00673.hp1 others(60): Show HG00544.hp2 HG00558.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp1 HG01074.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01433.hp2 HG01884.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01981.hp2 HG02129.hp2 HG02132.hp2 HG02145.hp2 HG02165.hp1 HG02258.hp1 HG02273.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp2 HG02717.hp2 HG02886.hp1 HG02970.hp2 HG03098.hp2 HG03130.hp2 HG03453.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 NA18943.hp1 NA18963.hp2 NA18966.hp2 NA18977.hp2 NA18982.hp2 NA18998.hp1 NA19005.hp1 NA19007.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19056.hp2 NA19074.hp1 NA19084.hp2 NA19091.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0012 a0002c0006 a0006c0013	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(8): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0002t0001 a0001c0003t0002 a0001c0012t0008 a0002c0006t0007 a0006c0013t0001	a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(58): Show a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0175 a0001c0001t0001g0195 a0001c0001t0001g0201 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0005g0081 a0001c0001t0005g0247 a0001c0001t0006g0165 a0001c0001t0006g0173 a0001c0001t0006g0189 a0001c0001t0008g0036 a0001c0001t0008g0038 a0001c0001t0009g0204 a0001c0001t0012g0228 a0001c0002t0001g0063 a0001c0003t0002g0154 a0001c0003t0002g0191 a0001c0003t0002g0238 a0001c0012t0008g0179 a0002c0006t0007g0030 a0006c0013t0001g0180	63	117	0.5385	15	c.-22 others(26): Show c.-2261_-2260insAAAAAAAAAAAAAAA	SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding		2147		chr16	TogoVar
SCNN1G_chr16_23177745_23221883	23198423	T T	TAGAGAGA others(8): Show TAGAGAGAGACTGTTA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0282 a0001c0002t0015g0282	1	318	0.0031	15	c.107 others(33): Show c.1077+999_1077+1000insGAGAGACTGTTAAGA	SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCP2_chr1_52922276_53056698	52934592	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0147 a0001c0004t0004g0147	1	15	0.0667	15	c.69+ others(30): Show c.69+7151_69+7165dupTTTTTTTTTTTTTTT	SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCP2_chr1_52922276_53056698	52970968	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03516.hp2 HG02109.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0034 a0001c0001t0006g0035 a0001c0001t0006g0034 a0001c0001t0006g0035	2	137	0.0146	15	c.524 others(32): Show c.524-3790_524-3776dupTTTTTTTTTTTTTTT	SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCP2_chr1_52922276_53056698	52987006	A A	ATATATTT others(8): Show ATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0265 a0001c0005t0007g0265	1	214	0.0047	15	c.974 others(32): Show c.974-1022_974-1021insATATTTTTTTTTTTT	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(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18992.hp1 NA19000.hp2 others(3): Show NA18943.hp2 NA18992.hp1 NA19000.hp2 NA19009.hp2 NA19056.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0192 a0001c0002t0002g0104 a0001c0002t0002g0106 others(3): Show a0001c0001t0002g0192 a0001c0002t0002g0104 a0001c0002t0002g0106 a0001c0002t0002g0120 a0001c0002t0002g0123 a0001c0002t0002g0128	6	210	0.0286	15	c.974 others(32): Show c.974-1022_974-1021insATATATATATATATA	SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding	10/15			chr1	TogoVar
SCRIB_chr8_143785925_143820773	143815721	T T	TGCCCCGC others(8): Show TGCCCCGCCGACACCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02280.hp1 HG02809.hp1 HG02895.hp1 others(1): Show HG02280.hp1 HG02809.hp1 HG02895.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0026 a0001c0001 a0001c0026	a0001c0001t0002 a0001c0026t0002 a0001c0001t0002 a0001c0026t0002	a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0026t0002g0063 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0026t0002g0063	4	386	0.0104	15	c.-36 others(24): Show c.-364_-350dupGGGTGTCGGCGGGGC	SCRIB	ENSG00000180900.20	transcript	ENST00000356994.7	protein_coding	1/37	350		chr8	TogoVar
SCRN1_chr7_29915109_29994801	29932651	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0009 a0003c0003t0009	a0003c0003t0009g0220 a0003c0003t0009g0220	1	158	0.0063	15	c.905 others(32): Show c.905+3890_905+3904dupTTTTTTTTTTTTTTT	SCRN1	ENSG00000136193.17	transcript	ENST00000242059.10	protein_coding	6/7			chr7	TogoVar
SCTR_chr2_119434843_119529483	119524853	C C	CATTATTG others(8): Show CATTATTGAAGTCATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0069 a0001c0001t0003g0069	1	287	0.0035	15	c.-64 others(24): Show c.-642_-628dupAATGACTTCAATAAT	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding		371		chr2	TogoVar
SCUBE1_chr22_43192280_43348372	43284752	A A	ATCATCGT others(8): Show ATCATCGTCGTCGTCG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0074 a0002c0005t0074	a0002c0005t0074g0056 a0002c0005t0074g0056	1	278	0.0036	15	c.484 others(32): Show c.484+6293_484+6294insCGACGACGACGATGA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE2_chr11_9014476_9096599	9054725	A A	ATATATAT others(8): Show ATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0027 a0001c0002t0001g0027	1	121	0.0083	15	c.120 others(32): Show c.1208-967_1208-966insAAATATATATATATA	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	10/22			chr11	TogoVar
SCUBE2_chr11_9014476_9096599	9054725	A A	ATATATAT others(8): Show ATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0312 a0002c0001t0003g0312	1	121	0.0083	15	c.120 others(32): Show c.1208-967_1208-966insAAAAATATATATATA	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	10/22			chr11	TogoVar
SCUBE2_chr11_9014476_9096599	9054725	A A	ATATATAT others(8): Show ATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0004	a0002c0001t0004g0295 a0002c0001t0004g0295	1	121	0.0083	15	c.120 others(32): Show c.1208-967_1208-966insAAAAAAATATATATA	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	10/22			chr11	TogoVar

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