Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
SCN10A_chr3_38691807_38821217	38769239	C C	CTTTTT CTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00323.hp2 others(126): Show HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01081.hp1 HG01099.hp2 HG01168.hp1 HG01175.hp1 HG01255.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01928.hp1 HG01934.hp2 HG01975.hp2 HG02004.hp1 HG02015.hp2 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02922.hp2 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03239.hp2 HG03471.hp1 HG03688.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18947.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18960.hp1 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18967.hp1 NA18969.hp1 NA18970.hp1 NA18975.hp1 NA18978.hp1 NA18979.hp1 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18987.hp2 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18998.hp2 NA19000.hp2 NA19002.hp1 NA19003.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19043.hp2 NA19055.hp1 NA19057.hp1 NA19058.hp1 NA19062.hp1 NA19070.hp1 NA19070.hp2 NA19078.hp2 NA19079.hp1 NA19081.hp1 NA19087.hp1 NA19088.hp1 NA19090.hp1 NA19240.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0005 others(12): Show a0001 a0002 a0005 a0006 a0007 a0011 a0014 a0016 a0021 a0022 a0023 a0026 a0029 a0034 a0035	a0001c0003 a0001c0004 a0001c0005 others(27): Show a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0019 a0001c0029 a0002c0001 a0002c0012 a0002c0014 a0002c0015 a0002c0024 a0002c0039 a0002c0071 a0005c0009 a0005c0011 a0005c0013 a0005c0025 a0005c0045 a0006c0038 a0007c0016 a0011c0028 a0014c0040 a0016c0053 a0021c0042 a0022c0049 a0023c0044 a0026c0037 a0029c0043 a0034c0069 a0035c0041	a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 others(30): Show a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0005t0002 a0001c0007t0001 a0001c0019t0001 a0001c0029t0001 a0002c0001t0001 a0002c0001t0002 a0002c0012t0001 a0002c0014t0001 a0002c0015t0001 a0002c0024t0001 a0002c0039t0001 a0002c0071t0001 a0005c0009t0001 a0005c0009t0002 a0005c0011t0001 a0005c0013t0001 a0005c0025t0001 a0005c0045t0001 a0006c0038t0007 a0007c0016t0001 a0011c0028t0001 a0014c0040t0001 a0016c0053t0001 a0021c0042t0002 a0022c0049t0001 a0023c0044t0001 a0026c0037t0001 a0029c0043t0001 a0034c0069t0001 a0035c0041t0001	a0001c0003t0001g0014 a0001c0003t0001g0016 a0001c0003t0001g0023 others(126): Show a0001c0003t0001g0014 a0001c0003t0001g0016 a0001c0003t0001g0023 a0001c0003t0001g0025 a0001c0003t0001g0026 a0001c0003t0001g0033 a0001c0003t0001g0034 a0001c0003t0001g0042 a0001c0003t0001g0043 a0001c0003t0001g0061 a0001c0003t0001g0077 a0001c0003t0001g0078 a0001c0003t0001g0130 a0001c0003t0001g0177 a0001c0003t0001g0240 a0001c0003t0001g0295 a0001c0003t0001g0297 a0001c0003t0001g0299 a0001c0003t0001g0300 a0001c0003t0001g0330 a0001c0003t0002g0036 a0001c0003t0002g0092 a0001c0003t0002g0251 a0001c0003t0002g0296 a0001c0003t0002g0311 a0001c0004t0001g0058 a0001c0004t0001g0101 a0001c0005t0002g0336 a0001c0007t0001g0035 a0001c0007t0001g0037 a0001c0007t0001g0038 a0001c0007t0001g0144 a0001c0007t0001g0364 a0001c0007t0001g0365 a0001c0007t0001g0366 a0001c0019t0001g0024 a0001c0019t0001g0041 a0001c0029t0001g0072 a0002c0001t0001g0050 a0002c0001t0001g0056 a0002c0001t0001g0057 a0002c0001t0001g0063 a0002c0001t0001g0064 a0002c0001t0001g0065 a0002c0001t0001g0066 a0002c0001t0001g0123 a0002c0001t0001g0126 a0002c0001t0001g0154 a0002c0001t0001g0164 a0002c0001t0001g0166 a0002c0001t0001g0169 a0002c0001t0001g0179 a0002c0001t0001g0181 a0002c0001t0001g0182 a0002c0001t0001g0188 a0002c0001t0001g0191 a0002c0001t0001g0195 a0002c0001t0001g0196 a0002c0001t0001g0198 a0002c0001t0001g0199 a0002c0001t0001g0201 a0002c0001t0001g0203 a0002c0001t0001g0207 a0002c0001t0001g0208 a0002c0001t0001g0209 a0002c0001t0001g0210 a0002c0001t0001g0219 a0002c0001t0001g0223 a0002c0001t0001g0224 a0002c0001t0001g0228 a0002c0001t0001g0229 a0002c0001t0001g0230 a0002c0001t0001g0231 a0002c0001t0001g0232 a0002c0001t0001g0233 a0002c0001t0001g0234 a0002c0001t0001g0235 a0002c0001t0001g0238 a0002c0001t0001g0239 a0002c0001t0001g0241 a0002c0001t0001g0275 a0002c0001t0001g0306 a0002c0001t0001g0345 a0002c0001t0001g0346 a0002c0001t0001g0347 a0002c0001t0002g0124 a0002c0001t0002g0190 a0002c0001t0002g0194 a0002c0001t0002g0202 a0002c0001t0002g0205 a0002c0001t0002g0278 a0002c0012t0001g0083 a0002c0012t0001g0084 a0002c0014t0001g0048 a0002c0015t0001g0178 a0002c0015t0001g0225 a0002c0015t0001g0317 a0002c0024t0001g0180 a0002c0039t0001g0143 a0002c0071t0001g0236 a0005c0009t0001g0055 a0005c0009t0002g0044 a0005c0009t0002g0059 a0005c0011t0001g0045 a0005c0011t0001g0052 a0005c0011t0001g0141 a0005c0011t0001g0142 a0005c0011t0001g0145 a0005c0013t0001g0074 a0005c0013t0001g0076 a0005c0013t0001g0079 a0005c0025t0001g0304 a0005c0025t0001g0305 a0005c0045t0001g0303 a0006c0038t0007g0090 a0007c0016t0001g0031 a0007c0016t0001g0051 a0007c0016t0001g0053 a0011c0028t0001g0245 a0011c0028t0001g0246 a0014c0040t0001g0189 a0016c0053t0001g0298 a0021c0042t0002g0193 a0022c0049t0001g0163 a0023c0044t0001g0071 a0026c0037t0001g0204 a0029c0043t0001g0185 a0034c0069t0001g0226 a0035c0041t0001g0147	129	372	0.3468	5	c.599 others(22): Show c.599+2035_599+2039dupAAAAA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	5/27			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38849257	C C	CTTTTT CTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01516.hp2 HG01517.hp2 others(3): Show HG01243.hp2 HG01516.hp2 HG01517.hp2 HG02486.hp2 HG02818.hp2 HG03139.hp2	a0001 a0008 a0001 a0008	a0001c0005 a0001c0006 a0001c0011 others(1): Show a0001c0005 a0001c0006 a0001c0011 a0008c0018	a0001c0005t0001 a0001c0006t0003 a0001c0011t0011 others(1): Show a0001c0005t0001 a0001c0006t0003 a0001c0011t0011 a0008c0018t0015	a0001c0005t0001g0248 a0001c0005t0001g0249 a0001c0006t0003g0291 others(3): Show a0001c0005t0001g0248 a0001c0005t0001g0249 a0001c0006t0003g0291 a0001c0006t0003g0292 a0001c0011t0011g0259 a0008c0018t0015g0208	6	314	0.0191	5	c.432 others(24): Show c.4327+1219_4327+1223dupAAAAA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	29/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38889802	A A	AAAAAT AAAAAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01517.hp1 HG01891.hp2 others(35): Show HG00408.hp1 HG01517.hp1 HG01891.hp2 HG01978.hp1 HG02056.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02165.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02683.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp2 HG03195.hp1 HG03225.hp1 HG03471.hp2 HG03831.hp1 NA18940.hp1 NA18949.hp1 NA18950.hp1 NA18964.hp1 NA18968.hp1 NA18975.hp1 NA18980.hp2 NA18981.hp2 NA18993.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19003.hp1 NA19068.hp2 NA19070.hp2 NA19083.hp1 NA19088.hp2 NA19240.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0006 a0002c0003 others(2): Show a0001c0001 a0001c0006 a0002c0003 a0002c0014 a0003c0004	a0001c0001t0002 a0001c0006t0006 a0002c0003t0001 others(4): Show a0001c0001t0002 a0001c0006t0006 a0002c0003t0001 a0002c0003t0003 a0002c0003t0008 a0002c0014t0001 a0003c0004t0001	a0001c0001t0002g0054 a0001c0001t0002g0062 a0001c0001t0002g0084 others(35): Show a0001c0001t0002g0054 a0001c0001t0002g0062 a0001c0001t0002g0084 a0001c0001t0002g0092 a0001c0001t0002g0117 a0001c0001t0002g0126 a0001c0006t0006g0295 a0001c0006t0006g0296 a0001c0006t0006g0297 a0001c0006t0006g0307 a0002c0003t0001g0007 a0002c0003t0001g0008 a0002c0003t0001g0009 a0002c0003t0001g0011 a0002c0003t0001g0012 a0002c0003t0001g0013 a0002c0003t0001g0015 a0002c0003t0001g0016 a0002c0003t0001g0018 a0002c0003t0001g0026 a0002c0003t0001g0027 a0002c0003t0001g0029 a0002c0003t0001g0030 a0002c0003t0001g0031 a0002c0003t0001g0032 a0002c0003t0001g0034 a0002c0003t0001g0035 a0002c0003t0001g0036 a0002c0003t0001g0037 a0002c0003t0001g0074 a0002c0003t0001g0091 a0002c0003t0001g0107 a0002c0003t0001g0125 a0002c0003t0003g0305 a0002c0003t0008g0006 a0002c0014t0001g0226 a0002c0014t0001g0236 a0003c0004t0001g0206	38	314	0.1210	5	c.283 others(24): Show c.2836-3569_2836-3565dupATTTT	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	19/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38950059	C C	CCCCCT CCCCCT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01070.hp2 HG01071.hp2 others(60): Show HG00639.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01243.hp2 HG01255.hp1 HG01516.hp1 HG01891.hp1 HG01934.hp1 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG02015.hp1 HG02056.hp1 HG02074.hp2 HG02129.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02622.hp2 HG02723.hp2 HG02809.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp2 HG04115.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18942.hp2 NA18965.hp1 NA18982.hp1 NA18983.hp1 NA18986.hp1 NA18991.hp2 NA19030.hp1 NA19043.hp1 NA19060.hp2 NA19087.hp2 NA20129.hp1 NA20752.hp1 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0002 a0001c0005 a0001c0007 others(3): Show a0001c0002 a0001c0005 a0001c0007 a0002c0014 a0003c0004 a0007c0023	a0001c0002t0001 a0001c0002t0002 a0001c0005t0001 others(6): Show a0001c0002t0001 a0001c0002t0002 a0001c0005t0001 a0001c0007t0005 a0001c0007t0010 a0002c0014t0001 a0003c0004t0001 a0003c0004t0012 a0007c0023t0001	a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0002g0204 others(60): Show a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0002g0204 a0001c0002t0002g0205 a0001c0005t0001g0240 a0001c0005t0001g0241 a0001c0005t0001g0242 a0001c0005t0001g0243 a0001c0005t0001g0244 a0001c0005t0001g0245 a0001c0005t0001g0246 a0001c0005t0001g0248 a0001c0005t0001g0249 a0001c0005t0001g0250 a0001c0005t0001g0251 a0001c0005t0001g0252 a0001c0005t0001g0253 a0001c0005t0001g0254 a0001c0005t0001g0255 a0001c0005t0001g0256 a0001c0005t0001g0257 a0001c0007t0005g0300 a0001c0007t0005g0301 a0001c0007t0005g0302 a0001c0007t0005g0303 a0001c0007t0005g0304 a0001c0007t0005g0306 a0001c0007t0005g0311 a0001c0007t0010g0247 a0001c0007t0010g0314 a0002c0014t0001g0226 a0002c0014t0001g0236 a0003c0004t0001g0063 a0003c0004t0001g0064 a0003c0004t0001g0086 a0003c0004t0001g0206 a0003c0004t0001g0209 a0003c0004t0001g0210 a0003c0004t0001g0211 a0003c0004t0001g0212 a0003c0004t0001g0213 a0003c0004t0001g0214 a0003c0004t0001g0216 a0003c0004t0001g0217 a0003c0004t0001g0218 a0003c0004t0001g0219 a0003c0004t0001g0220 a0003c0004t0001g0221 a0003c0004t0001g0222 a0003c0004t0001g0223 a0003c0004t0001g0224 a0003c0004t0001g0225 a0003c0004t0001g0227 a0003c0004t0001g0228 a0003c0004t0001g0230 a0003c0004t0001g0231 a0003c0004t0001g0232 a0003c0004t0001g0233 a0003c0004t0001g0235 a0003c0004t0001g0237 a0003c0004t0012g0229 a0003c0004t0012g0234 a0007c0023t0001g0198	63	314	0.2006	5	c.267 others(18): Show c.267+36_267+37insAGGGG	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	5/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38974709	A A	AAAAAG AAAAAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp2 others(60): Show HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00558.hp2 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp2 HG01175.hp2 HG01192.hp2 HG01257.hp2 HG01361.hp1 HG01981.hp2 HG02027.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02109.hp1 HG02602.hp2 HG02735.hp2 HG02738.hp1 HG03239.hp1 HG03654.hp1 HG03831.hp2 HG04115.hp2 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18945.hp1 NA18947.hp2 NA18949.hp2 NA18952.hp2 NA18957.hp1 NA18959.hp2 NA18964.hp2 NA18965.hp2 NA18967.hp2 NA18975.hp2 NA18978.hp2 NA18989.hp1 NA18989.hp2 NA18993.hp2 NA18999.hp2 NA19002.hp1 NA19003.hp2 NA19005.hp1 NA19010.hp1 NA19055.hp1 NA19060.hp1 NA19063.hp1 NA19066.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA20805.hp2 NA20905.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0006c0024 a0001c0002 a0006c0024	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(2): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0016 a0006c0024t0004	a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 others(60): Show a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0196 a0001c0002t0002g0156 a0001c0002t0004g0040 a0001c0002t0004g0041 a0001c0002t0004g0042 a0001c0002t0004g0043 a0001c0002t0004g0044 a0001c0002t0004g0045 a0001c0002t0004g0046 a0001c0002t0004g0047 a0001c0002t0004g0048 a0001c0002t0004g0049 a0001c0002t0004g0050 a0001c0002t0004g0051 a0001c0002t0004g0052 a0001c0002t0004g0053 a0001c0002t0004g0195 a0001c0002t0016g0184 a0006c0024t0004g0039	63	314	0.2006	5	c.-27 others(26): Show c.-279-14291_-279-14287dupCTTTT	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	2/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	39041802	T T	TAAATC TAAATC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02258.hp1 HG02280.hp2 others(8): Show HG01934.hp2 HG02258.hp1 HG02280.hp2 HG02559.hp1 HG02630.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02976.hp2 HG03130.hp1 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0009 a0001c0011 others(2): Show a0001c0002 a0001c0009 a0001c0011 a0001c0012 a0001c0017	a0001c0002t0004 a0001c0002t0014 a0001c0009t0007 others(3): Show a0001c0002t0004 a0001c0002t0014 a0001c0009t0007 a0001c0011t0011 a0001c0012t0001 a0001c0017t0001	a0001c0002t0004g0262 a0001c0002t0014g0199 a0001c0009t0007g0200 others(8): Show a0001c0002t0004g0262 a0001c0002t0014g0199 a0001c0009t0007g0200 a0001c0009t0007g0201 a0001c0009t0007g0202 a0001c0009t0007g0203 a0001c0011t0011g0258 a0001c0011t0011g0259 a0001c0012t0001g0260 a0001c0012t0001g0261 a0001c0017t0001g0263	11	314	0.0350	5	c.-40 others(24): Show c.-403-9300_-403-9299insGATTT	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	1/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	39042974	A A	AAAAAG AAAAAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp2 others(98): Show HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00558.hp2 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG01074.hp1 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01257.hp2 HG01516.hp1 HG01981.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG04115.hp2 NA18747.hp1 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18945.hp1 NA18947.hp2 NA18949.hp2 NA18957.hp1 NA18959.hp2 NA18964.hp2 NA18965.hp2 NA18968.hp2 NA18975.hp2 NA18978.hp2 NA18986.hp1 NA18989.hp1 NA18993.hp2 NA18999.hp2 NA19005.hp1 NA19030.hp1 NA19030.hp2 NA19060.hp1 NA19066.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19086.hp2 NA19088.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0003 a0010 a0001 a0003 a0010	a0001c0001 a0001c0002 a0001c0005 others(9): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0007 a0001c0011 a0001c0012 a0001c0015 a0001c0017 a0003c0004 a0003c0010 a0010c0022	a0001c0001t0003 a0001c0001t0020 a0001c0002t0001 others(12): Show a0001c0001t0003 a0001c0001t0020 a0001c0002t0001 a0001c0002t0002 a0001c0002t0016 a0001c0005t0001 a0001c0006t0001 a0001c0007t0010 a0001c0011t0011 a0001c0012t0001 a0001c0015t0003 a0001c0017t0001 a0003c0004t0001 a0003c0010t0003 a0010c0022t0003	a0001c0001t0003g0265 a0001c0001t0003g0266 a0001c0001t0003g0269 others(98): Show a0001c0001t0003g0265 a0001c0001t0003g0266 a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0289 a0001c0001t0003g0312 a0001c0001t0020g0264 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0196 a0001c0002t0002g0156 a0001c0002t0016g0184 a0001c0005t0001g0240 a0001c0005t0001g0241 a0001c0005t0001g0242 a0001c0005t0001g0243 a0001c0005t0001g0244 a0001c0005t0001g0245 a0001c0005t0001g0246 a0001c0005t0001g0248 a0001c0005t0001g0249 a0001c0005t0001g0250 a0001c0005t0001g0251 a0001c0005t0001g0252 a0001c0005t0001g0253 a0001c0005t0001g0254 a0001c0005t0001g0255 a0001c0005t0001g0256 a0001c0005t0001g0257 a0001c0006t0001g0313 a0001c0007t0010g0247 a0001c0007t0010g0314 a0001c0011t0011g0258 a0001c0011t0011g0259 a0001c0012t0001g0260 a0001c0012t0001g0261 a0001c0015t0003g0287 a0001c0015t0003g0288 a0001c0017t0001g0263 a0003c0004t0001g0210 a0003c0004t0001g0211 a0003c0004t0001g0216 a0003c0004t0001g0217 a0003c0010t0003g0268 a0010c0022t0003g0267	101	314	0.3217	5	c.-40 others(24): Show c.-404+8886_-404+8887insCTTTT	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	1/29			chr3	TogoVar
SCN1A_chr2_165980813_166133020	166067700	C C	CTTTTT CTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp2 HG02027.hp2 others(6): Show HG00423.hp1 HG00609.hp2 HG02027.hp2 HG02080.hp1 NA18959.hp2 NA18972.hp2 NA19000.hp1 NA19054.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0019 a0001c0001t0038 others(1): Show a0001c0001t0002 a0001c0001t0019 a0001c0001t0038 a0001c0001t0064	a0001c0001t0002g0093 a0001c0001t0002g0102 a0001c0001t0002g0116 others(6): Show a0001c0001t0002g0093 a0001c0001t0002g0102 a0001c0001t0002g0116 a0001c0001t0002g0123 a0001c0001t0002g0138 a0001c0001t0002g0262 a0001c0001t0019g0150 a0001c0001t0038g0222 a0001c0001t0064g0106	9	356	0.0253	5	c.264 others(22): Show c.264+5653_264+5657dupAAAAA	SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	4/28			chr2	TogoVar
SCN1A_chr2_165980813_166133020	166113567	T T	TATAAA TATAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(328): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.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 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.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 HG03492.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18969.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0010 a0011 a0012	a0001c0001 a0001c0003 a0001c0004 others(18): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0011 a0001c0021 a0001c0023 a0001c0024 a0002c0002 a0002c0019 a0003c0007 a0004c0015 a0005c0018 a0007c0020 a0008c0013 a0009c0009 a0010c0026 a0011c0025 a0012c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(95): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0031 a0001c0001t0035 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0001t0043 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0072 a0001c0001t0073 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0086 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0003t0020 a0001c0003t0034 a0001c0003t0088 a0001c0004t0032 a0001c0004t0033 a0001c0004t0055 a0001c0005t0084 a0001c0005t0085 a0001c0005t0089 a0001c0006t0041 a0001c0008t0003 a0001c0011t0006 a0001c0021t0003 a0001c0023t0023 a0001c0024t0003 a0002c0002t0007 a0002c0002t0009 a0002c0002t0010 a0002c0002t0015 a0002c0002t0018 a0002c0002t0026 a0002c0002t0027 a0002c0002t0029 a0002c0002t0030 a0002c0002t0037 a0002c0002t0052 a0002c0002t0054 a0002c0002t0071 a0002c0002t0074 a0002c0002t0075 a0002c0002t0076 a0002c0002t0077 a0002c0019t0007 a0003c0007t0044 a0004c0015t0007 a0005c0018t0007 a0007c0020t0040 a0008c0013t0053 a0009c0009t0045 a0010c0026t0043 a0011c0025t0011 a0012c0022t0013	a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0020 others(326): Show a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0084 a0001c0001t0001g0124 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0171 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0224 a0001c0001t0001g0263 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0002g0002 a0001c0001t0002g0016 a0001c0001t0002g0026 a0001c0001t0002g0085 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0105 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0123 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0138 a0001c0001t0002g0154 a0001c0001t0002g0168 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0001t0002g0268 a0001c0001t0002g0274 a0001c0001t0002g0348 a0001c0001t0003g0013 a0001c0001t0003g0094 a0001c0001t0003g0122 a0001c0001t0003g0175 a0001c0001t0003g0179 a0001c0001t0003g0183 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0204 a0001c0001t0003g0208 a0001c0001t0003g0212 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0232 a0001c0001t0003g0234 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0242 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0277 a0001c0001t0003g0294 a0001c0001t0004g0121 a0001c0001t0004g0132 a0001c0001t0004g0133 a0001c0001t0004g0134 a0001c0001t0004g0241 a0001c0001t0004g0256 a0001c0001t0004g0257 a0001c0001t0004g0261 a0001c0001t0004g0269 a0001c0001t0004g0270 a0001c0001t0004g0271 a0001c0001t0004g0275 a0001c0001t0004g0276 a0001c0001t0004g0278 a0001c0001t0004g0279 a0001c0001t0004g0280 a0001c0001t0004g0281 a0001c0001t0005g0170 a0001c0001t0005g0185 a0001c0001t0005g0188 a0001c0001t0005g0189 a0001c0001t0005g0190 a0001c0001t0005g0196 a0001c0001t0005g0211 a0001c0001t0005g0213 a0001c0001t0005g0214 a0001c0001t0005g0217 a0001c0001t0005g0226 a0001c0001t0005g0227 a0001c0001t0005g0228 a0001c0001t0005g0230 a0001c0001t0005g0300 a0001c0001t0006g0159 a0001c0001t0006g0160 a0001c0001t0006g0286 a0001c0001t0006g0289 a0001c0001t0006g0290 a0001c0001t0006g0292 a0001c0001t0006g0296 a0001c0001t0006g0299 a0001c0001t0008g0001 a0001c0001t0008g0180 a0001c0001t0008g0202 a0001c0001t0008g0205 a0001c0001t0008g0206 a0001c0001t0008g0207 a0001c0001t0008g0223 a0001c0001t0008g0233 a0001c0001t0011g0236 a0001c0001t0011g0253 a0001c0001t0011g0258 a0001c0001t0011g0264 a0001c0001t0011g0265 a0001c0001t0011g0282 a0001c0001t0012g0003 a0001c0001t0012g0004 a0001c0001t0012g0006 a0001c0001t0012g0009 a0001c0001t0012g0010 a0001c0001t0012g0012 a0001c0001t0013g0173 a0001c0001t0013g0174 a0001c0001t0013g0182 a0001c0001t0013g0215 a0001c0001t0013g0295 a0001c0001t0014g0025 a0001c0001t0014g0027 a0001c0001t0014g0029 a0001c0001t0014g0030 a0001c0001t0014g0031 a0001c0001t0014g0125 a0001c0001t0016g0177 a0001c0001t0016g0210 a0001c0001t0016g0229 a0001c0001t0016g0235 a0001c0001t0016g0267 a0001c0001t0017g0018 a0001c0001t0017g0028 a0001c0001t0017g0056 a0001c0001t0019g0035 a0001c0001t0019g0103 a0001c0001t0019g0150 a0001c0001t0019g0243 a0001c0001t0021g0157 a0001c0001t0021g0158 a0001c0001t0021g0162 a0001c0001t0022g0209 a0001c0001t0022g0216 a0001c0001t0022g0244 a0001c0001t0023g0146 a0001c0001t0023g0252 a0001c0001t0024g0293 a0001c0001t0025g0073 a0001c0001t0025g0087 a0001c0001t0025g0088 a0001c0001t0026g0080 a0001c0001t0026g0081 a0001c0001t0028g0008 a0001c0001t0028g0011 a0001c0001t0031g0346 a0001c0001t0031g0347 a0001c0001t0035g0082 a0001c0001t0035g0083 a0001c0001t0036g0284 a0001c0001t0036g0285 a0001c0001t0038g0156 a0001c0001t0038g0222 a0001c0001t0039g0128 a0001c0001t0039g0255 a0001c0001t0043g0283 a0001c0001t0046g0352 a0001c0001t0046g0353 a0001c0001t0047g0007 a0001c0001t0048g0005 a0001c0001t0049g0291 a0001c0001t0050g0249 a0001c0001t0051g0036 a0001c0001t0057g0199 a0001c0001t0058g0297 a0001c0001t0059g0247 a0001c0001t0060g0350 a0001c0001t0062g0086 a0001c0001t0063g0051 a0001c0001t0064g0106 a0001c0001t0065g0066 a0001c0001t0066g0203 a0001c0001t0067g0184 a0001c0001t0068g0288 a0001c0001t0069g0287 a0001c0001t0070g0074 a0001c0001t0072g0318 a0001c0001t0073g0050 a0001c0001t0079g0273 a0001c0001t0080g0251 a0001c0001t0081g0231 a0001c0001t0082g0104 a0001c0001t0086g0107 a0001c0001t0090g0272 a0001c0001t0091g0266 a0001c0001t0092g0354 a0001c0003t0020g0163 a0001c0003t0034g0069 a0001c0003t0034g0070 a0001c0003t0088g0312 a0001c0004t0032g0034 a0001c0004t0032g0089 a0001c0004t0033g0032 a0001c0004t0033g0033 a0001c0004t0055g0136 a0001c0005t0084g0072 a0001c0005t0085g0037 a0001c0005t0089g0349 a0001c0006t0041g0095 a0001c0006t0041g0248 a0001c0008t0003g0061 a0001c0008t0003g0225 a0001c0011t0006g0298 a0001c0021t0003g0191 a0001c0023t0023g0176 a0001c0024t0003g0014 a0002c0002t0007g0092 a0002c0002t0007g0137 a0002c0002t0007g0139 a0002c0002t0007g0142 a0002c0002t0007g0145 a0002c0002t0007g0153 a0002c0002t0007g0303 a0002c0002t0009g0304 a0002c0002t0009g0308 a0002c0002t0009g0309 a0002c0002t0009g0310 a0002c0002t0009g0311 a0002c0002t0009g0313 a0002c0002t0009g0351 a0002c0002t0010g0075 a0002c0002t0010g0076 a0002c0002t0010g0077 a0002c0002t0010g0078 a0002c0002t0010g0169 a0002c0002t0010g0325 a0002c0002t0010g0326 a0002c0002t0015g0166 a0002c0002t0018g0178 a0002c0002t0018g0181 a0002c0002t0018g0186 a0002c0002t0018g0187 a0002c0002t0026g0019 a0002c0002t0027g0151 a0002c0002t0027g0152 a0002c0002t0029g0314 a0002c0002t0029g0315 a0002c0002t0030g0039 a0002c0002t0030g0316 a0002c0002t0037g0053 a0002c0002t0037g0055 a0002c0002t0052g0307 a0002c0002t0054g0306 a0002c0002t0071g0079 a0002c0002t0074g0155 a0002c0002t0075g0167 a0002c0002t0076g0143 a0002c0002t0077g0161 a0002c0019t0007g0164 a0003c0007t0044g0149 a0003c0007t0044g0317 a0004c0015t0007g0240 a0005c0018t0007g0165 a0007c0020t0040g0135 a0008c0013t0053g0305 a0009c0009t0045g0250 a0010c0026t0043g0038 a0011c0025t0011g0254 a0012c0022t0013g0172	331	356	0.9298	5	c.-14 others(26): Show c.-142+13352_-142+13356dupTTTAT	SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	2/28			chr2	TogoVar
SCN1A_chr2_165980813_166133020	166118298	G G	GCTTCT GCTTCT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02717.hp1 HG03225.hp2 HG02145.hp2 HG02717.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0019 a0001c0001t0051 a0001c0004t0055 a0001c0001t0019 a0001c0001t0051 a0001c0004t0055	a0001c0001t0019g0035 a0001c0001t0051g0036 a0001c0004t0055g0136 a0001c0001t0019g0035 a0001c0001t0051g0036 a0001c0004t0055g0136	3	356	0.0084	5	c.-14 others(24): Show c.-142+8625_-142+8626insAGAAG	SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	2/28			chr2	TogoVar
SCN1B_chr19_35025470_35045449	35029542	C C	CAAAAA CAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG00673.hp2 HG02015.hp1 others(10): Show HG00621.hp1 HG00673.hp2 HG02015.hp1 HG02258.hp2 HG02895.hp2 HG03942.hp2 NA18522.hp1 NA18612.hp2 NA18961.hp1 NA18961.hp2 NA18967.hp1 NA18978.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0003t0010	a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0048 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0048 a0001c0001t0001g0092 a0001c0001t0002g0086 a0001c0001t0002g0089 a0001c0001t0005g0001 a0001c0001t0005g0045 a0001c0001t0006g0080 a0001c0003t0010g0042	13	404	0.0322	5	c.-12 others(16): Show c.-1279_-1278insAAAAA	SCN1B	ENSG00000105711.14	transcript	ENST00000262631.11	protein_coding		927		chr19	TogoVar
SCN2A_chr2_165234414_165397304	165256000	C C	CTTTTT CTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00408.hp2 others(111): Show HG00099.hp2 HG00140.hp2 HG00408.hp2 HG00438.hp2 HG00544.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00733.hp1 HG00738.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp1 HG01168.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp1 HG01975.hp1 HG01981.hp2 HG01993.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp1 HG02074.hp1 HG02080.hp1 HG02129.hp1 HG02132.hp1 HG02155.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02523.hp2 HG02559.hp1 HG02630.hp1 HG02683.hp2 HG02717.hp2 HG02735.hp1 HG02895.hp1 HG02897.hp1 HG02970.hp1 HG03017.hp1 HG03195.hp1 HG03209.hp1 HG03453.hp1 HG03669.hp1 HG03942.hp1 HG06807.hp1 NA18612.hp2 NA18939.hp1 NA18940.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp2 NA18948.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18956.hp1 NA18956.hp2 NA18961.hp2 NA18963.hp1 NA18964.hp1 NA18973.hp2 NA18981.hp2 NA18985.hp1 NA18988.hp1 NA18990.hp1 NA18993.hp1 NA18995.hp1 NA18999.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19007.hp2 NA19011.hp1 NA19054.hp2 NA19060.hp1 NA19066.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp2 NA19080.hp2 NA19083.hp2 NA19085.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20752.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0019 a0001c0020 a0002c0003 a0003c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0002t0001 a0001c0002t0005 a0001c0002t0014 a0001c0004t0004 a0001c0019t0002 a0001c0020t0001 a0002c0003t0001 a0003c0010t0002	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(111): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0153 a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0001g0184 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0221 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0264 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0319 a0001c0001t0001g0331 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0176 a0001c0001t0002g0178 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0207 a0001c0001t0002g0213 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0234 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0252 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0277 a0001c0001t0002g0290 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0295 a0001c0001t0002g0300 a0001c0001t0002g0325 a0001c0001t0002g0329 a0001c0001t0006g0282 a0001c0001t0008g0265 a0001c0001t0009g0212 a0001c0001t0009g0230 a0001c0001t0010g0165 a0001c0001t0010g0253 a0001c0002t0001g0022 a0001c0002t0001g0227 a0001c0002t0001g0233 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0278 a0001c0002t0001g0291 a0001c0002t0001g0299 a0001c0002t0001g0327 a0001c0002t0001g0328 a0001c0002t0005g0209 a0001c0002t0005g0326 a0001c0002t0014g0154 a0001c0004t0004g0226 a0001c0004t0004g0283 a0001c0004t0004g0284 a0001c0019t0002g0240 a0001c0020t0001g0196 a0002c0003t0001g0205 a0002c0003t0001g0211 a0003c0010t0002g0204	114	358	0.3184	5	c.-52 others(24): Show c.-52+16376_-52+16380dupTTTTT	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN2A_chr2_165234414_165397304	165260970	C C	CAAAAA CAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00544.hp2 others(79): Show HG00140.hp1 HG00140.hp2 HG00544.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG01070.hp1 HG01081.hp1 HG01106.hp2 HG01243.hp2 HG01255.hp1 HG01346.hp1 HG01361.hp2 HG01433.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp1 HG01975.hp1 HG01981.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02074.hp1 HG02080.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02155.hp1 HG02258.hp1 HG02293.hp2 HG02451.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02976.hp2 HG03139.hp1 HG03831.hp1 HG04184.hp1 HG06807.hp1 NA18612.hp2 NA18940.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp2 NA18948.hp2 NA18952.hp2 NA18956.hp1 NA18956.hp2 NA18961.hp2 NA18963.hp1 NA18964.hp1 NA18973.hp2 NA18988.hp1 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18995.hp1 NA18999.hp2 NA19002.hp1 NA19003.hp2 NA19011.hp1 NA19054.hp2 NA19058.hp2 NA19060.hp1 NA19066.hp1 NA19068.hp2 NA19079.hp2 NA19083.hp2 NA19085.hp1 NA19088.hp1 NA19088.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0019 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0002t0001 a0001c0002t0005 a0001c0004t0004 a0001c0005t0001 a0001c0007t0001 a0001c0019t0002 a0002c0003t0001	a0001c0001t0001g0019 a0001c0001t0001g0152 a0001c0001t0001g0153 others(79): Show a0001c0001t0001g0019 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0001g0184 a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0221 a0001c0001t0001g0239 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0331 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0159 a0001c0001t0002g0161 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0167 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0178 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0213 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0232 a0001c0001t0002g0234 a0001c0001t0002g0238 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0300 a0001c0001t0002g0356 a0001c0001t0003g0349 a0001c0001t0007g0187 a0001c0001t0007g0188 a0001c0001t0009g0212 a0001c0001t0010g0165 a0001c0001t0010g0253 a0001c0001t0013g0040 a0001c0002t0001g0023 a0001c0002t0001g0227 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0278 a0001c0002t0001g0294 a0001c0002t0001g0299 a0001c0002t0005g0326 a0001c0004t0004g0185 a0001c0004t0004g0226 a0001c0004t0004g0283 a0001c0004t0004g0284 a0001c0005t0001g0186 a0001c0007t0001g0179 a0001c0019t0002g0240 a0002c0003t0001g0205 a0002c0003t0001g0211	82	358	0.2291	5	c.-52 others(24): Show c.-52+21345_-52+21349dupAAAAA	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN2A_chr2_165234414_165397304	165263886	A A	ATTTTT ATTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00673.hp2 HG01981.hp1 others(10): Show HG00408.hp1 HG00673.hp2 HG01981.hp1 HG02056.hp2 NA18945.hp2 NA18947.hp1 NA18964.hp2 NA18971.hp2 NA18980.hp1 NA18993.hp2 NA19009.hp1 NA19083.hp1 NA19089.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0002 a0001c0002t0001 a0002c0003t0001 a0001c0001t0002 a0001c0002t0001 a0002c0003t0001	a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0145 others(10): Show a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0002t0001g0142 a0001c0002t0001g0144 a0001c0002t0001g0151 a0001c0002t0001g0174 a0002c0003t0001g0141	13	358	0.0363	5	c.-52 others(24): Show c.-52+24254_-52+24258dupTTTTT	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN2A_chr2_165234414_165397304	165291409	T T	TGTCTG TGTCTG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00733.hp1 HG01884.hp2 others(5): Show HG00544.hp1 HG00733.hp1 HG01884.hp2 HG03491.hp1 HG03492.hp2 NA18964.hp2 NA18988.hp2 NA18990.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0001c0002t0001 a0002c0003t0001	a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0059 others(5): Show a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0095 a0001c0002t0001g0174 a0001c0002t0001g0275 a0002c0003t0001g0077	8	358	0.0224	5	c.-51 others(22): Show c.-51-4364_-51-4363insGTCTG	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26			chr2	TogoVar
SCN2A_chr2_165234414_165397304	165291491	T T	TTTTTC TTTTTC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01081.hp1 HG01257.hp2 others(1): Show HG00408.hp2 HG01081.hp1 HG01257.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0195 a0001c0001t0002g0225 a0001c0001t0002g0002 a0001c0001t0002g0195 a0001c0001t0002g0225	4	358	0.0112	5	c.-51 others(22): Show c.-51-4279_-51-4278insTCTTT	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN2A_chr2_165234414_165397304	165294040	A A	AAGATT AAGATT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp1 HG00738.hp1 others(10): Show HG00438.hp2 HG00621.hp1 HG00738.hp1 HG01433.hp2 HG01981.hp2 HG02735.hp1 HG04115.hp1 NA18946.hp1 NA18956.hp2 NA19011.hp2 NA19054.hp2 NA19080.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0019 a0001c0001 a0001c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 a0001c0019t0002	a0001c0001t0001g0020 a0001c0001t0002g0137 a0001c0001t0002g0139 others(10): Show a0001c0001t0001g0020 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0002g0168 a0001c0001t0002g0181 a0001c0001t0002g0220 a0001c0001t0002g0223 a0001c0001t0002g0232 a0001c0001t0002g0237 a0001c0001t0002g0242 a0001c0001t0009g0212 a0001c0001t0010g0253 a0001c0019t0002g0240	13	358	0.0363	5	c.-51 others(22): Show c.-51-1733_-51-1732insAGATT	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26			chr2	TogoVar
SCN2B_chr11_118157806_118181639	118174091	C C	CTTTTG CTTTTG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00741.hp2 HG01243.hp1 others(24): Show HG00558.hp1 HG00741.hp2 HG01243.hp1 HG02027.hp1 HG02056.hp2 HG02615.hp2 HG02965.hp2 HG03139.hp2 HG03579.hp2 NA18948.hp2 NA18977.hp1 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18987.hp2 NA18988.hp1 NA18991.hp1 NA18993.hp1 NA19007.hp2 NA19030.hp1 NA19057.hp2 NA19058.hp2 NA19068.hp2 NA19080.hp1 NA19082.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 others(5): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 a0001c0001t0014 a0001c0001t0022 a0001c0001t0025 a0001c0001t0044 a0001c0001t0045	a0001c0001t0001g0175 a0001c0001t0001g0180 a0001c0001t0001g0214 others(15): Show a0001c0001t0001g0175 a0001c0001t0001g0180 a0001c0001t0001g0214 a0001c0001t0005g0015 a0001c0001t0005g0025 a0001c0001t0005g0054 a0001c0001t0005g0181 a0001c0001t0005g0184 a0001c0001t0005g0186 a0001c0001t0005g0188 a0001c0001t0005g0236 a0001c0001t0010g0030 a0001c0001t0014g0047 a0001c0001t0014g0187 a0001c0001t0022g0051 a0001c0001t0025g0185 a0001c0001t0044g0182 a0001c0001t0045g0183	27	450	0.0600	5	c.70+ others(20): Show c.70+2270_70+2271insCAAAA	SCN2B	ENSG00000149575.9	transcript	ENST00000278947.6	protein_coding	1/3			chr11	TogoVar
SCN3A_chr2_165082526_165209050	165086861	C C	CTTTTT CTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG02129.hp2 HG03490.hp1 others(4): Show HG00639.hp2 HG02129.hp2 HG03490.hp1 HG03492.hp1 HG03834.hp2 NA19001.hp2 NA19004.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0001c0003 a0013c0028 a0001c0001 a0001c0003 a0013c0028	a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 a0013c0028t0001	a0001c0001t0001g0003 a0001c0001t0001g0151 a0001c0001t0001g0153 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0003t0001g0143 a0001c0003t0002g0056 a0013c0028t0001g0198	7	314	0.0223	5	c.32 others(16): Show c.3288_*3289insAAAAA	SCN3A	ENSG00000153253.20	transcript	ENST00000283254.12	protein_coding		664		chr2	TogoVar
SCN3B_chr11_123624188_123659624	123648606	A A	AACAGT AACAGT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00735.hp2 HG01168.hp2 others(12): Show HG00323.hp2 HG00735.hp2 HG01168.hp2 HG02572.hp1 HG02717.hp2 HG02738.hp2 HG02965.hp2 HG03209.hp2 HG03471.hp1 HG03490.hp2 HG03654.hp1 HG03831.hp2 HG04204.hp1 NA18983.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0014 a0001c0001t0023 a0001c0001t0024 a0001c0001t0029 a0001c0001t0050 a0001c0003t0005 a0001c0003t0009 a0001c0003t0058	a0001c0001t0001g0032 a0001c0001t0001g0343 a0001c0001t0004g0031 others(10): Show a0001c0001t0001g0032 a0001c0001t0001g0343 a0001c0001t0004g0031 a0001c0001t0004g0134 a0001c0001t0006g0143 a0001c0001t0014g0116 a0001c0001t0023g0341 a0001c0001t0024g0342 a0001c0001t0029g0117 a0001c0001t0050g0112 a0001c0003t0005g0338 a0001c0003t0009g0335 a0001c0003t0058g0337	15	450	0.0333	5	c.56- others(20): Show c.56-2857_56-2856insACTGT	SCN3B	ENSG00000166257.10	transcript	ENST00000299333.8	protein_coding	2/6			chr11	TogoVar
SCN5A_chr3_38543062_38654687	38590221	T T	TAAAAA TAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01175.hp2 HG01978.hp1 others(5): Show HG00609.hp1 HG01175.hp2 HG01978.hp1 HG02027.hp1 HG02055.hp2 HG02129.hp2 HG02145.hp1 NA19030.hp1	a0001 a0008 a0011 others(1): Show a0001 a0008 a0011 a0023	a0001c0002 a0001c0003 a0001c0004 others(3): Show a0001c0002 a0001c0003 a0001c0004 a0008c0021 a0011c0032 a0023c0056	a0001c0002t0001 a0001c0003t0002 a0001c0004t0001 others(3): Show a0001c0002t0001 a0001c0003t0002 a0001c0004t0001 a0008c0021t0002 a0011c0032t0001 a0023c0056t0001	a0001c0002t0001g0164 a0001c0002t0001g0319 a0001c0003t0002g0297 others(5): Show a0001c0002t0001g0164 a0001c0002t0001g0319 a0001c0003t0002g0297 a0001c0004t0001g0074 a0001c0004t0001g0075 a0008c0021t0002g0157 a0011c0032t0001g0168 a0023c0056t0001g0015	8	340	0.0235	5	c.226 others(24): Show c.2263-2653_2263-2649dupTTTTT	SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding	14/27			chr3	TogoVar
SCN8A_chr12_51586233_51817864	51606825	G G	GTATTT GTATTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02257.hp1 HG02257.hp2 others(17): Show HG01884.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 NA18522.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0009 a0001c0011 a0001c0012	a0001c0001t0006 a0001c0002t0001 a0001c0002t0006 others(9): Show a0001c0001t0006 a0001c0002t0001 a0001c0002t0006 a0001c0003t0002 a0001c0003t0006 a0001c0003t0009 a0001c0003t0012 a0001c0003t0015 a0001c0005t0009 a0001c0009t0024 a0001c0011t0025 a0001c0012t0001	a0001c0001t0006g0002 a0001c0001t0006g0003 a0001c0002t0001g0001 others(17): Show a0001c0001t0006g0002 a0001c0001t0006g0003 a0001c0002t0001g0001 a0001c0002t0001g0031 a0001c0002t0001g0163 a0001c0002t0001g0165 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0006g0186 a0001c0003t0002g0117 a0001c0003t0006g0116 a0001c0003t0006g0118 a0001c0003t0009g0114 a0001c0003t0012g0106 a0001c0003t0015g0115 a0001c0005t0009g0051 a0001c0009t0024g0112 a0001c0011t0025g0113 a0001c0012t0001g0052	20	202	0.0990	5	c.-55 others(24): Show c.-55+15493_-55+15497dupATTTT	SCN8A	ENSG00000196876.19	transcript	ENST00000354534.11	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
SCN8A_chr12_51586233_51817864	51639879	C C	CTTTTT CTTTTT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02735.hp2 NA18946.hp2 others(3): Show HG02040.hp1 HG02735.hp2 NA18946.hp2 NA18970.hp2 NA18974.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0002t0001 a0001c0003t0013 a0001c0001t0003 a0001c0002t0001 a0001c0003t0013	a0001c0001t0003g0015 a0001c0001t0003g0133 a0001c0002t0001g0138 others(3): Show a0001c0001t0003g0015 a0001c0001t0003g0133 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0148 a0001c0003t0013g0077	6	202	0.0297	5	c.-54 others(24): Show c.-54-22851_-54-22847dupTTTTT	SCN8A	ENSG00000196876.19	transcript	ENST00000354534.11	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
SCN8A_chr12_51586233_51817864	51663903	A A	ATTTTT ATTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG01070.hp1 others(39): Show HG00280.hp1 HG00280.hp2 HG01070.hp1 HG01071.hp1 HG01099.hp2 HG01346.hp2 HG01433.hp2 HG01496.hp1 HG01928.hp1 HG01928.hp2 HG02040.hp1 HG02056.hp2 HG02074.hp1 HG02109.hp2 HG02257.hp1 HG02602.hp2 HG02723.hp2 HG02809.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03209.hp2 HG03225.hp2 HG04204.hp2 NA18946.hp1 NA18946.hp2 NA18952.hp1 NA18952.hp2 NA18970.hp1 NA18970.hp2 NA18974.hp1 NA18979.hp1 NA18979.hp2 NA18983.hp2 NA19055.hp2 NA19058.hp1 NA20129.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0014	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(10): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0019 a0001c0001t0021 a0001c0001t0029 a0001c0002t0001 a0001c0002t0006 a0001c0002t0007 a0001c0002t0026 a0001c0004t0008 a0001c0014t0005	a0001c0001t0002g0099 a0001c0001t0002g0182 a0001c0001t0003g0133 others(39): Show a0001c0001t0002g0099 a0001c0001t0002g0182 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0145 a0001c0001t0003g0154 a0001c0001t0005g0131 a0001c0001t0006g0095 a0001c0001t0019g0155 a0001c0001t0021g0144 a0001c0001t0029g0137 a0001c0002t0001g0012 a0001c0002t0001g0014 a0001c0002t0001g0016 a0001c0002t0001g0055 a0001c0002t0001g0132 a0001c0002t0001g0139 a0001c0002t0001g0148 a0001c0002t0001g0163 a0001c0002t0001g0165 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0177 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0191 a0001c0002t0001g0194 a0001c0002t0006g0186 a0001c0002t0007g0019 a0001c0002t0007g0136 a0001c0002t0007g0143 a0001c0002t0026g0050 a0001c0004t0008g0092 a0001c0004t0008g0093 a0001c0004t0008g0094 a0001c0004t0008g0096 a0001c0004t0008g0098 a0001c0014t0005g0036	42	202	0.2079	5	c.276 others(20): Show c.276+830_276+834dupTTTTT	SCN8A	ENSG00000196876.19	transcript	ENST00000354534.11	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
SCN8A_chr12_51586233_51817864	51677056	G G	GTTTTA GTTTTA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00733.hp1 HG01167.hp2 others(29): Show HG00621.hp2 HG00733.hp1 HG01167.hp2 HG01884.hp1 HG01934.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02145.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03239.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03688.hp2 HG03927.hp2 NA18522.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA19055.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0016	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(10): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0002t0001 a0001c0002t0007 a0001c0003t0002 a0001c0003t0010 a0001c0003t0012 a0001c0005t0009 a0001c0006t0001 a0001c0016t0004	a0001c0001t0002g0024 a0001c0001t0003g0015 a0001c0001t0003g0025 others(29): Show a0001c0001t0002g0024 a0001c0001t0003g0015 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0029 a0001c0001t0003g0154 a0001c0001t0004g0054 a0001c0001t0004g0059 a0001c0001t0006g0002 a0001c0001t0006g0003 a0001c0001t0011g0178 a0001c0001t0011g0179 a0001c0001t0011g0180 a0001c0002t0001g0055 a0001c0002t0001g0060 a0001c0002t0001g0132 a0001c0002t0001g0135 a0001c0002t0001g0139 a0001c0002t0001g0153 a0001c0002t0001g0156 a0001c0002t0001g0166 a0001c0002t0001g0193 a0001c0002t0007g0184 a0001c0003t0002g0088 a0001c0003t0002g0121 a0001c0003t0010g0064 a0001c0003t0012g0090 a0001c0003t0012g0106 a0001c0005t0009g0051 a0001c0006t0001g0190 a0001c0016t0004g0181	32	202	0.1584	5	c.277 others(22): Show c.277-7067_277-7063dupTTTTA	SCN8A	ENSG00000196876.19	transcript	ENST00000354534.11	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
SCN8A_chr12_51586233_51817864	51703237	T T	TTTTTG TTTTTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(124): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00621.hp1 HG00621.hp2 HG00733.hp1 HG00735.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01255.hp2 HG01346.hp1 HG01433.hp2 HG01496.hp1 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03041.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03654.hp1 HG03688.hp2 HG03710.hp2 HG03834.hp2 HG03927.hp2 HG04204.hp1 HG04204.hp2 NA18906.hp1 NA18906.hp2 NA18946.hp1 NA18946.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18970.hp1 NA18970.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19030.hp1 NA19043.hp2 NA19055.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0013 a0001c0015 a0001c0016	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(23): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0020 a0001c0001t0021 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0002t0001 a0001c0002t0006 a0001c0002t0007 a0001c0002t0023 a0001c0002t0026 a0001c0003t0009 a0001c0003t0013 a0001c0004t0004 a0001c0004t0008 a0001c0005t0014 a0001c0006t0001 a0001c0008t0001 a0001c0013t0001 a0001c0015t0005 a0001c0016t0004	a0001c0001t0002g0099 a0001c0001t0002g0182 a0001c0001t0003g0015 others(124): Show a0001c0001t0002g0099 a0001c0001t0002g0182 a0001c0001t0003g0015 a0001c0001t0003g0017 a0001c0001t0003g0021 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0029 a0001c0001t0003g0034 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0049 a0001c0001t0003g0056 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0145 a0001c0001t0003g0154 a0001c0001t0004g0008 a0001c0001t0004g0032 a0001c0001t0004g0053 a0001c0001t0004g0054 a0001c0001t0004g0057 a0001c0001t0004g0058 a0001c0001t0004g0059 a0001c0001t0004g0101 a0001c0001t0005g0125 a0001c0001t0005g0126 a0001c0001t0005g0127 a0001c0001t0005g0129 a0001c0001t0005g0183 a0001c0001t0006g0095 a0001c0001t0006g0130 a0001c0001t0011g0178 a0001c0001t0011g0179 a0001c0001t0011g0180 a0001c0001t0020g0044 a0001c0001t0021g0144 a0001c0001t0028g0006 a0001c0001t0029g0137 a0001c0001t0030g0142 a0001c0002t0001g0012 a0001c0002t0001g0014 a0001c0002t0001g0016 a0001c0002t0001g0020 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0031 a0001c0002t0001g0035 a0001c0002t0001g0048 a0001c0002t0001g0055 a0001c0002t0001g0060 a0001c0002t0001g0068 a0001c0002t0001g0119 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0132 a0001c0002t0001g0135 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0148 a0001c0002t0001g0150 a0001c0002t0001g0153 a0001c0002t0001g0156 a0001c0002t0001g0161 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0185 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0191 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0006g0186 a0001c0002t0007g0013 a0001c0002t0007g0018 a0001c0002t0007g0019 a0001c0002t0007g0028 a0001c0002t0007g0136 a0001c0002t0007g0143 a0001c0002t0007g0146 a0001c0002t0007g0184 a0001c0002t0023g0152 a0001c0002t0026g0050 a0001c0003t0009g0114 a0001c0003t0013g0077 a0001c0003t0013g0105 a0001c0004t0004g0160 a0001c0004t0008g0092 a0001c0004t0008g0093 a0001c0004t0008g0094 a0001c0004t0008g0096 a0001c0004t0008g0097 a0001c0004t0008g0098 a0001c0005t0014g0199 a0001c0005t0014g0200 a0001c0006t0001g0079 a0001c0008t0001g0147 a0001c0008t0001g0149 a0001c0013t0001g0102 a0001c0015t0005g0128 a0001c0016t0004g0181	127	202	0.6287	5	c.113 others(22): Show c.1134+348_1134+352dupGTTTT	SCN8A	ENSG00000196876.19	transcript	ENST00000354534.11	protein_coding	9/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
SCN8A_chr12_51586233_51817864	51761465	A A	ATTTAT ATTTAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03098.hp1 HG03130.hp2 others(4): Show HG02895.hp2 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03486.hp1 NA18522.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0001t0006 a0001c0003t0006 a0001c0001t0004 a0001c0001t0006 a0001c0003t0006	a0001c0001t0004g0162 a0001c0001t0006g0002 a0001c0001t0006g0003 others(4): Show a0001c0001t0004g0162 a0001c0001t0006g0002 a0001c0001t0006g0003 a0001c0001t0006g0072 a0001c0001t0006g0202 a0001c0003t0006g0116 a0001c0003t0006g0118	7	202	0.0347	5	c.237 others(24): Show c.2371-1036_2371-1035insTATTT	SCN8A	ENSG00000196876.19	transcript	ENST00000354534.11	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
SCN8A_chr12_51586233_51817864	51779219	C C	CAAAAA CAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp1 HG01168.hp2 others(42): Show HG00140.hp2 HG00639.hp1 HG01168.hp2 HG01169.hp1 HG01517.hp1 HG02040.hp2 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02698.hp2 HG02735.hp2 HG02809.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03710.hp2 HG03834.hp2 HG04204.hp2 NA18522.hp2 NA18906.hp2 NA18952.hp1 NA18954.hp1 NA18970.hp2 NA18974.hp2 NA18977.hp1 NA18984.hp1 NA18999.hp2 NA19000.hp2 NA19030.hp2 NA19055.hp2 NA19081.hp2 NA19084.hp1 NA20129.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0001c0009 a0001c0011	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(10): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0020 a0001c0001t0021 a0001c0001t0029 a0001c0001t0030 a0001c0003t0006 a0001c0003t0009 a0001c0003t0013 a0001c0005t0009 a0001c0009t0024 a0001c0011t0025	a0001c0001t0003g0015 a0001c0001t0003g0017 a0001c0001t0003g0021 others(42): Show a0001c0001t0003g0015 a0001c0001t0003g0017 a0001c0001t0003g0021 a0001c0001t0003g0026 a0001c0001t0003g0029 a0001c0001t0003g0034 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0049 a0001c0001t0003g0056 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0145 a0001c0001t0003g0154 a0001c0001t0003g0192 a0001c0001t0004g0069 a0001c0001t0004g0070 a0001c0001t0004g0071 a0001c0001t0004g0100 a0001c0001t0004g0162 a0001c0001t0006g0002 a0001c0001t0006g0003 a0001c0001t0006g0072 a0001c0001t0006g0202 a0001c0001t0020g0044 a0001c0001t0021g0144 a0001c0001t0029g0137 a0001c0001t0030g0142 a0001c0003t0006g0118 a0001c0003t0009g0114 a0001c0003t0013g0077 a0001c0003t0013g0105 a0001c0005t0009g0051 a0001c0005t0009g0073 a0001c0005t0009g0074 a0001c0009t0024g0112 a0001c0011t0025g0113	45	202	0.2228	5	c.382 others(24): Show c.3820-1416_3820-1412dupAAAAA	SCN8A	ENSG00000196876.19	transcript	ENST00000354534.11	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
SCN8A_chr12_51586233_51817864	51788287	C C	CTTTTT CTTTTT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02602.hp1 HG02615.hp1 others(4): Show HG02040.hp2 HG02602.hp1 HG02615.hp1 HG02630.hp2 NA18977.hp1 NA19030.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006	a0001c0001t0003g0026 a0001c0001t0003g0038 a0001c0001t0003g0049 others(4): Show a0001c0001t0003g0026 a0001c0001t0003g0038 a0001c0001t0003g0049 a0001c0001t0004g0069 a0001c0001t0004g0070 a0001c0001t0004g0071 a0001c0001t0006g0072	7	202	0.0347	5	c.422 others(22): Show c.4228-391_4228-387dupTTTTT	SCN8A	ENSG00000196876.19	transcript	ENST00000354534.11	protein_coding	22/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
SCN9A_chr2_166190185_166380944	166199975	G G	GTTTTT GTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02027.hp1 HG02486.hp1 others(6): Show HG00558.hp2 HG02027.hp1 HG02486.hp1 HG02622.hp1 HG02723.hp2 HG02809.hp1 NA18963.hp2 NA19011.hp2 NA19030.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0001c0003 a0001c0006 others(2): Show a0001c0002 a0001c0003 a0001c0006 a0001c0011 a0004c0008	a0001c0002t0010 a0001c0003t0001 a0001c0003t0006 others(5): Show a0001c0002t0010 a0001c0003t0001 a0001c0003t0006 a0001c0003t0010 a0001c0006t0001 a0001c0011t0001 a0004c0008t0001 a0004c0008t0006	a0001c0002t0010g0007 a0001c0003t0001g0216 a0001c0003t0006g0078 others(6): Show a0001c0002t0010g0007 a0001c0003t0001g0216 a0001c0003t0006g0078 a0001c0003t0006g0274 a0001c0003t0010g0008 a0001c0006t0001g0145 a0001c0011t0001g0128 a0004c0008t0001g0276 a0004c0008t0006g0077	9	296	0.0304	5	c.477 others(22): Show c.4775-116_4775-112dupAAAAA	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	26/26			chr2	TogoVar
SCN9A_chr2_166190185_166380944	166266840	C C	CTTGAT CTTGAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02922.hp1 HG03225.hp2 others(1): Show HG01496.hp1 HG02922.hp1 HG03225.hp2 NA19240.hp1	a0001 a0011 a0001 a0011	a0001c0003 a0001c0005 a0001c0007 others(1): Show a0001c0003 a0001c0005 a0001c0007 a0011c0041	a0001c0003t0012 a0001c0005t0012 a0001c0007t0012 others(1): Show a0001c0003t0012 a0001c0005t0012 a0001c0007t0012 a0011c0041t0011	a0001c0003t0012g0261 a0001c0005t0012g0022 a0001c0007t0012g0018 others(1): Show a0001c0003t0012g0261 a0001c0005t0012g0022 a0001c0007t0012g0018 a0011c0041t0011g0177	4	296	0.0135	5	c.335 others(24): Show c.3351+5558_3351+5559insATCAA	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	17/26			chr2	TogoVar
SCN9A_chr2_166190185_166380944	166310653	G G	GGGACT GGGACT	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18971.hp2 NA19081.hp2 NA18963.hp1 NA18971.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0002g0064 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0002g0064	3	296	0.0101	5	c.258 others(20): Show c.258+845_258+846insAGTCC	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	2/26			chr2	TogoVar
SCNN1B_chr16_23297302_23386294	23301359	C C	CAAAAA CAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00408.hp1 others(145): Show HG00099.hp1 HG00323.hp1 HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00639.hp2 HG00735.hp2 HG00738.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp2 HG01255.hp1 HG01346.hp2 HG01496.hp2 HG01515.hp2 HG01891.hp1 HG01993.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02129.hp2 HG02135.hp1 HG02165.hp1 HG02258.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02698.hp2 HG02717.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02976.hp1 HG03098.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03710.hp1 HG03710.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18941.hp1 NA18944.hp2 NA18948.hp2 NA18949.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18991.hp1 NA18995.hp2 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19081.hp2 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19091.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0008 a0009 a0010	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0008 a0001c0009 a0001c0015 a0002c0004 a0003c0005 a0004c0020 a0005c0012 a0008c0011 a0009c0019 a0010c0010	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0001c0006t0001 a0001c0008t0003 a0001c0009t0001 a0001c0015t0001 a0002c0004t0001 a0003c0005t0001 a0004c0020t0001 a0005c0012t0001 a0008c0011t0001 a0009c0019t0001 a0010c0010t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 others(145): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0180 a0001c0001t0001g0194 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0251 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0002g0020 a0001c0001t0002g0042 a0001c0002t0001g0008 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0045 a0001c0002t0001g0048 a0001c0002t0001g0056 a0001c0002t0001g0060 a0001c0003t0001g0064 a0001c0003t0001g0090 a0001c0003t0001g0113 a0001c0003t0001g0133 a0001c0003t0001g0159 a0001c0003t0001g0266 a0001c0003t0001g0274 a0001c0006t0001g0025 a0001c0006t0001g0027 a0001c0006t0001g0247 a0001c0008t0003g0091 a0001c0009t0001g0059 a0001c0015t0001g0067 a0002c0004t0001g0040 a0002c0004t0001g0051 a0002c0004t0001g0058 a0002c0004t0001g0151 a0003c0005t0001g0065 a0003c0005t0001g0066 a0004c0020t0001g0015 a0005c0012t0001g0127 a0008c0011t0001g0119 a0009c0019t0001g0248 a0010c0010t0001g0049	148	306	0.4837	5	c.-10 others(16): Show c.-1087_-1086insAAAAA	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding		942		chr16	TogoVar
SCNN1B_chr16_23297302_23386294	23305534	T T	TATATA TATATA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG04228.hp2 NA18995.hp1 others(1): Show HG03704.hp2 HG04228.hp2 NA18995.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0275 others(1): Show a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0275 a0001c0002t0001g0166	4	306	0.0131	5	c.-9+ others(20): Show c.-9+3097_-9+3098insATATA	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	1/12			chr16	TogoVar
SCNN1B_chr16_23297302_23386294	23305581	A A	AAATAT AAATAT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02055.hp1 HG02572.hp2 others(2): Show HG01123.hp2 HG02055.hp1 HG02572.hp2 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0099 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0099 a0001c0001t0001g0251 a0001c0001t0001g0275	5	306	0.0163	5	c.-9+ others(20): Show c.-9+3144_-9+3145insAATAT	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	1/12			chr16	TogoVar
SCNN1B_chr16_23297302_23386294	23343671	G G	GGAAGA GGAAGA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02630.hp1 NA18906.hp2 HG02486.hp1 HG02630.hp1 NA18906.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0003 a0001c0008t0001 a0001c0008t0003	a0001c0008t0001g0148 a0001c0008t0001g0291 a0001c0008t0003g0091 a0001c0008t0001g0148 a0001c0008t0001g0291 a0001c0008t0003g0091	3	306	0.0098	5	c.-8- others(20): Show c.-8-4921_-8-4920insGAAGA	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	1/12			chr16	TogoVar
SCNN1B_chr16_23297302_23386294	23346200	C C	CTTTTT CTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02040.hp2 HG02109.hp2 others(20): Show HG00438.hp1 HG02040.hp2 HG02109.hp2 HG02135.hp1 HG02559.hp1 HG02738.hp2 HG03239.hp2 HG04228.hp1 NA18944.hp2 NA18948.hp2 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18971.hp2 NA18980.hp2 NA18991.hp1 NA18995.hp2 NA19000.hp2 NA19011.hp1 NA19065.hp2 NA19070.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0004 a0001c0001 a0001c0006 a0002c0004	a0001c0001t0001 a0001c0001t0006 a0001c0006t0001 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0006t0001 a0002c0004t0001	a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0044 others(20): Show a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0044 a0001c0001t0001g0100 a0001c0001t0001g0117 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0136 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0149 a0001c0001t0001g0162 a0001c0001t0001g0245 a0001c0001t0001g0278 a0001c0001t0001g0284 a0001c0001t0001g0304 a0001c0001t0006g0305 a0001c0006t0001g0025 a0001c0006t0001g0027 a0001c0006t0001g0247 a0002c0004t0001g0058	23	306	0.0752	5	c.-8- others(20): Show c.-8-2367_-8-2363dupTTTTT	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1D_chr1_1275436_1297025	1289854	C C	CCCCGT CCCCGT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01884.hp2 HG01891.hp1 others(11): Show HG01516.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG02970.hp1 HG02976.hp1 HG03239.hp1 HG03654.hp1 HG04204.hp2 NA18747.hp2 NA19043.hp1 NA19043.hp2 NA19064.hp1 NA19079.hp2	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0032	a0001c0001 a0002c0002 a0002c0003 others(2): Show a0001c0001 a0002c0002 a0002c0003 a0008c0007 a0032c0054	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 a0008c0007t0004 a0032c0054t0001	a0001c0001t0001g0177 a0001c0001t0001g0237 a0001c0001t0002g0225 others(11): Show a0001c0001t0001g0177 a0001c0001t0001g0237 a0001c0001t0002g0225 a0001c0001t0002g0230 a0002c0002t0001g0043 a0002c0002t0001g0056 a0002c0003t0001g0091 a0002c0003t0002g0101 a0002c0003t0002g0122 a0002c0003t0004g0113 a0002c0003t0004g0115 a0002c0003t0004g0120 a0008c0007t0004g0285 a0032c0054t0001g0261	14	290	0.0483	5	c.166 others(22): Show c.1663-413_1663-412insTCCCG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289854	C C	CTCCGT CTCCGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp2 HG00735.hp1 others(33): Show HG00099.hp2 HG00642.hp2 HG00735.hp1 HG00741.hp2 HG01081.hp1 HG01192.hp2 HG01256.hp1 HG01433.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp2 HG01934.hp2 HG02015.hp2 HG02040.hp2 HG02109.hp2 HG02257.hp1 HG02451.hp1 HG02486.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02970.hp2 HG03017.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03490.hp1 HG04184.hp1 HG06807.hp2 NA18951.hp2 NA18967.hp1 NA18967.hp2 NA18980.hp1 NA18995.hp2 NA19012.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0007 a0008 a0010 a0011 a0015 a0024 a0031 a0036	a0001c0001 a0001c0009 a0001c0012 others(13): Show a0001c0001 a0001c0009 a0001c0012 a0001c0019 a0001c0060 a0002c0002 a0002c0003 a0003c0004 a0007c0005 a0008c0007 a0010c0061 a0011c0018 a0015c0056 a0024c0052 a0031c0050 a0036c0024	a0001c0001t0001 a0001c0001t0002 a0001c0009t0001 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0009t0001 a0001c0012t0001 a0001c0019t0001 a0001c0060t0001 a0002c0002t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 a0003c0004t0003 a0007c0005t0001 a0008c0007t0004 a0010c0061t0001 a0011c0018t0003 a0015c0056t0001 a0024c0052t0003 a0031c0050t0001 a0036c0024t0001	a0001c0001t0001g0162 a0001c0001t0001g0167 a0001c0001t0001g0178 others(33): Show a0001c0001t0001g0162 a0001c0001t0001g0167 a0001c0001t0001g0178 a0001c0001t0001g0187 a0001c0001t0001g0212 a0001c0001t0001g0216 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0250 a0001c0001t0002g0233 a0001c0001t0002g0249 a0001c0001t0002g0254 a0001c0009t0001g0210 a0001c0012t0001g0127 a0001c0012t0001g0131 a0001c0019t0001g0263 a0001c0060t0001g0183 a0002c0002t0001g0042 a0002c0002t0001g0068 a0002c0003t0001g0018 a0002c0003t0002g0105 a0002c0003t0004g0111 a0002c0003t0004g0118 a0002c0003t0004g0121 a0003c0004t0003g0145 a0003c0004t0003g0152 a0003c0004t0003g0171 a0007c0005t0001g0100 a0008c0007t0004g0284 a0010c0061t0001g0198 a0011c0018t0003g0098 a0015c0056t0001g0147 a0024c0052t0003g0283 a0031c0050t0001g0090 a0036c0024t0001g0160	36	290	0.1241	5	c.166 others(22): Show c.1663-417_1663-416insTCCGT	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17			chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1293960	T T	TCGGGG TCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01261.hp1 HG01975.hp1 HG01192.hp1 HG01261.hp1 HG01975.hp1	a0001 a0020 a0001 a0020	a0001c0001 a0020c0066 a0001c0001 a0020c0066	a0001c0001t0001 a0001c0001t0002 a0020c0066t0001 a0001c0001t0001 a0001c0001t0002 a0020c0066t0001	a0001c0001t0001g0223 a0001c0001t0002g0221 a0020c0066t0001g0209 a0001c0001t0001g0223 a0001c0001t0002g0221 a0020c0066t0001g0209	3	290	0.0103	5	c.23 others(16): Show c.2350_*2351insCGGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding		1936		chr1	TogoVar
SCNN1G_chr16_23177745_23221883	23182162	C C	CAAAAA CAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG02300.hp1 HG02300.hp2 others(8): Show HG01123.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02559.hp1 HG02615.hp2 HG02622.hp1 HG02717.hp1 HG04228.hp1 NA18977.hp1 NA19077.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0008 a0002c0006 a0001c0002 a0001c0008 a0002c0006	a0001c0002t0003 a0001c0002t0004 a0001c0008t0001 others(1): Show a0001c0002t0003 a0001c0002t0004 a0001c0008t0001 a0002c0006t0007	a0001c0002t0003g0285 a0001c0002t0003g0293 a0001c0002t0003g0297 others(8): Show a0001c0002t0003g0285 a0001c0002t0003g0293 a0001c0002t0003g0297 a0001c0002t0004g0258 a0001c0002t0004g0266 a0001c0002t0004g0277 a0001c0002t0004g0312 a0001c0008t0001g0009 a0002c0006t0007g0022 a0002c0006t0007g0023 a0002c0006t0007g0024	11	320	0.0344	5	c.-69 others(14): Show c.-696_-695insAAAAA	SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding		582		chr16	TogoVar
SCO1_chr17_10667474_10702533	10689115	C C	CAAAAA CAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(172): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG01070.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01358.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03239.hp1 HG03471.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03710.hp1 HG04115.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18941.hp1 NA18944.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp2 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18984.hp1 NA18984.hp2 NA18987.hp1 NA18988.hp2 NA18990.hp1 NA18993.hp1 NA18998.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19012.hp1 NA19043.hp1 NA19054.hp1 NA19056.hp1 NA19058.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp2 NA19074.hp1 NA19078.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19084.hp1 NA19085.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0003 others(1): Show a0001c0001 a0001c0004 a0002c0003 a0003c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(58): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0022 a0001c0001t0023 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0044 a0001c0001t0046 a0001c0001t0047 a0001c0001t0049 a0001c0001t0051 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0001t0106 a0001c0001t0107 a0001c0001t0108 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0001t0113 a0001c0001t0114 a0001c0001t0115 a0001c0001t0116 a0001c0001t0118 a0001c0001t0119 a0001c0001t0120 a0001c0001t0122 a0001c0001t0123 a0001c0001t0124 a0001c0001t0125 a0001c0001t0126 a0001c0001t0127 a0001c0001t0128 a0001c0001t0129 a0001c0001t0130 a0001c0001t0131 a0001c0004t0001 a0001c0004t0104 a0002c0003t0017 a0002c0003t0026 a0002c0003t0045 a0002c0003t0048 a0003c0008t0117	a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0023 others(107): Show a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0034 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0099 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0120 a0001c0001t0001g0128 a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0001g0155 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0003g0004 a0001c0001t0003g0012 a0001c0001t0003g0018 a0001c0001t0003g0037 a0001c0001t0003g0106 a0001c0001t0003g0129 a0001c0001t0003g0139 a0001c0001t0003g0145 a0001c0001t0003g0164 a0001c0001t0008g0007 a0001c0001t0008g0075 a0001c0001t0008g0081 a0001c0001t0008g0082 a0001c0001t0008g0102 a0001c0001t0011g0025 a0001c0001t0011g0041 a0001c0001t0011g0073 a0001c0001t0011g0138 a0001c0001t0013g0032 a0001c0001t0013g0083 a0001c0001t0013g0088 a0001c0001t0013g0162 a0001c0001t0014g0010 a0001c0001t0014g0104 a0001c0001t0016g0020 a0001c0001t0016g0126 a0001c0001t0016g0127 a0001c0001t0017g0105 a0001c0001t0018g0011 a0001c0001t0018g0101 a0001c0001t0022g0017 a0001c0001t0023g0030 a0001c0001t0023g0066 a0001c0001t0027g0137 a0001c0001t0027g0147 a0001c0001t0027g0148 a0001c0001t0028g0074 a0001c0001t0028g0149 a0001c0001t0029g0096 a0001c0001t0030g0031 a0001c0001t0044g0115 a0001c0001t0044g0144 a0001c0001t0046g0089 a0001c0001t0046g0103 a0001c0001t0047g0091 a0001c0001t0049g0036 a0001c0001t0051g0033 a0001c0001t0053g0095 a0001c0001t0054g0064 a0001c0001t0055g0067 a0001c0001t0056g0065 a0001c0001t0094g0084 a0001c0001t0095g0085 a0001c0001t0096g0086 a0001c0001t0097g0087 a0001c0001t0099g0068 a0001c0001t0100g0076 a0001c0001t0101g0107 a0001c0001t0106g0062 a0001c0001t0107g0100 a0001c0001t0108g0114 a0001c0001t0110g0116 a0001c0001t0111g0090 a0001c0001t0112g0117 a0001c0001t0113g0125 a0001c0001t0114g0152 a0001c0001t0115g0063 a0001c0001t0116g0118 a0001c0001t0118g0132 a0001c0001t0119g0166 a0001c0001t0120g0141 a0001c0001t0122g0133 a0001c0001t0123g0134 a0001c0001t0124g0121 a0001c0001t0125g0131 a0001c0001t0126g0130 a0001c0001t0127g0098 a0001c0001t0128g0150 a0001c0001t0129g0119 a0001c0001t0130g0092 a0001c0001t0131g0070 a0001c0004t0001g0024 a0001c0004t0104g0136 a0002c0003t0017g0058 a0002c0003t0017g0252 a0002c0003t0017g0253 a0002c0003t0026g0245 a0002c0003t0045g0254 a0002c0003t0048g0250 a0002c0003t0048g0255 a0003c0008t0117g0262	175	416	0.4207	5	c.656 others(22): Show c.656-2278_656-2274dupTTTTT	SCO1	ENSG00000133028.12	transcript	ENST00000255390.10	protein_coding	4/5			chr17	TogoVar
SCO1_chr17_10667474_10702533	10696071	T T	TAAAAA TAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00621.hp2 HG00642.hp1 others(25): Show HG00438.hp1 HG00621.hp2 HG00642.hp1 HG01175.hp2 HG01358.hp2 HG01891.hp1 HG02109.hp1 HG02280.hp1 HG02451.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp2 HG03041.hp2 HG03098.hp1 HG03688.hp1 HG04228.hp1 NA18522.hp2 NA18978.hp1 NA18979.hp1 NA18980.hp1 NA18991.hp2 NA19003.hp2 NA19077.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0027 a0001c0001t0028 a0001c0001t0044 a0001c0001t0050 a0001c0001t0105 a0001c0001t0120 a0001c0001t0128	a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0003g0012 others(17): Show a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0003g0012 a0001c0001t0003g0039 a0001c0001t0003g0139 a0001c0001t0003g0145 a0001c0001t0011g0025 a0001c0001t0011g0041 a0001c0001t0011g0138 a0001c0001t0011g0146 a0001c0001t0027g0137 a0001c0001t0027g0147 a0001c0001t0027g0148 a0001c0001t0028g0149 a0001c0001t0028g0151 a0001c0001t0044g0144 a0001c0001t0050g0040 a0001c0001t0105g0143 a0001c0001t0120g0141 a0001c0001t0128g0150	28	416	0.0673	5	c.274 others(20): Show c.274-245_274-241dupTTTTT	SCO1	ENSG00000133028.12	transcript	ENST00000255390.10	protein_coding	1/5			chr17	TogoVar
SCP2_chr1_52922276_53056698	52934592	C C	CTTTTT CTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp1 HG00544.hp2 others(5): Show HG00140.hp1 HG00438.hp1 HG00544.hp2 HG02165.hp2 HG02451.hp2 HG02970.hp1 HG03710.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0003 a0001c0003t0001	a0001c0001t0001g0091 a0001c0001t0001g0216 a0001c0001t0001g0217 others(5): Show a0001c0001t0001g0091 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0002t0003g0143 a0001c0003t0001g0169	8	280	0.0286	5	c.69+ others(20): Show c.69+7161_69+7165dupTTTTT	SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCP2_chr1_52922276_53056698	52938000	T T	TATAAG TATAAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp1 HG02109.hp1 others(11): Show HG01884.hp1 HG02055.hp1 HG02109.hp1 HG02622.hp2 HG02896.hp2 HG02897.hp1 HG03130.hp1 HG03139.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp2 NA18906.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0006 a0001c0002t0006 a0001c0003t0001 others(3): Show a0001c0001t0006 a0001c0002t0006 a0001c0003t0001 a0001c0003t0008 a0001c0004t0008 a0001c0004t0011	a0001c0001t0006g0031 a0001c0001t0006g0034 a0001c0001t0006g0035 others(11): Show a0001c0001t0006g0031 a0001c0001t0006g0034 a0001c0001t0006g0035 a0001c0001t0006g0036 a0001c0001t0006g0037 a0001c0001t0006g0038 a0001c0002t0006g0045 a0001c0002t0006g0046 a0001c0003t0001g0277 a0001c0003t0008g0032 a0001c0003t0008g0033 a0001c0004t0008g0044 a0001c0004t0011g0047 a0001c0004t0011g0048	14	280	0.0500	5	c.70- others(20): Show c.70-3792_70-3791insGATAA	SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCP2_chr1_52922276_53056698	52970968	A A	ATTTTT ATTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02723.hp2 HG04204.hp2 others(6): Show HG00423.hp1 HG02723.hp2 HG04204.hp2 NA18747.hp1 NA18986.hp2 NA18994.hp2 NA19000.hp2 NA19012.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0002t0002 a0001c0004t0004 a0001c0002t0001 a0001c0002t0002 a0001c0004t0004	a0001c0002t0001g0270 a0001c0002t0002g0102 a0001c0002t0002g0106 others(6): Show a0001c0002t0001g0270 a0001c0002t0002g0102 a0001c0002t0002g0106 a0001c0002t0002g0110 a0001c0002t0002g0119 a0001c0002t0002g0123 a0001c0002t0002g0125 a0001c0004t0004g0145 a0001c0004t0004g0146	9	280	0.0321	5	c.524 others(22): Show c.524-3780_524-3776dupTTTTT	SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCP2_chr1_52922276_53056698	52987007	T T	TATATA TATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01071.hp1 HG01928.hp2 others(10): Show HG00438.hp1 HG01071.hp1 HG01928.hp2 HG01978.hp1 HG01993.hp1 HG02004.hp2 HG02055.hp1 HG02148.hp1 NA18982.hp1 NA19001.hp2 NA19002.hp2 NA19055.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0007t0003	a0001c0001t0001g0251 a0001c0001t0003g0224 a0001c0001t0003g0232 others(10): Show a0001c0001t0001g0251 a0001c0001t0003g0224 a0001c0001t0003g0232 a0001c0001t0003g0234 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0250 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0003g0255 a0001c0001t0003g0257 a0001c0001t0006g0037 a0001c0007t0003g0248	13	280	0.0464	5	c.974 others(22): Show c.974-1022_974-1021insATATA	SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding	10/15			chr1	TogoVar
SCP2_chr1_52922276_53056698	53013446	A A	AAAAAT AAAAAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG01069.hp2 others(22): Show HG00323.hp2 HG00438.hp1 HG01069.hp2 HG01071.hp1 HG01358.hp2 HG01993.hp1 HG02004.hp2 HG02055.hp1 HG02647.hp2 HG03139.hp2 HG03209.hp1 HG03516.hp2 HG03540.hp2 NA18906.hp1 NA18940.hp1 NA18949.hp2 NA18965.hp2 NA18973.hp1 NA19000.hp2 NA19002.hp2 NA19055.hp1 NA19079.hp2 NA19081.hp2 NA19087.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0002t0002 a0001c0002t0006	a0001c0001t0001g0251 a0001c0001t0002g0010 a0001c0001t0002g0011 others(22): Show a0001c0001t0001g0251 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0182 a0001c0001t0002g0240 a0001c0001t0003g0221 a0001c0001t0003g0232 a0001c0001t0003g0234 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0247 a0001c0001t0003g0249 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0003g0262 a0001c0001t0006g0035 a0001c0001t0006g0037 a0001c0002t0002g0043 a0001c0002t0002g0096 a0001c0002t0002g0105 a0001c0002t0002g0106 a0001c0002t0002g0117 a0001c0002t0002g0120 a0001c0002t0002g0166 a0001c0002t0006g0046	25	280	0.0893	5	c.108 others(24): Show c.1082-1444_1082-1443insAAAAT	SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding	11/15			chr1	TogoVar
SCP2_chr1_52922276_53056698	53025231	G G	GCTCTT GCTCTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG00438.hp1 others(92): Show HG00323.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00621.hp1 HG01069.hp2 HG01071.hp1 HG01243.hp2 HG01358.hp2 HG01884.hp1 HG01928.hp2 HG01978.hp1 HG01993.hp1 HG02004.hp2 HG02055.hp1 HG02083.hp1 HG02109.hp1 HG02148.hp1 HG02155.hp2 HG02165.hp2 HG02280.hp1 HG02559.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp2 HG03688.hp2 HG03831.hp1 HG04204.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp2 NA18940.hp1 NA18943.hp2 NA18948.hp1 NA18949.hp2 NA18954.hp1 NA18955.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp2 NA18968.hp2 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18982.hp1 NA18984.hp1 NA18986.hp2 NA18988.hp2 NA18990.hp1 NA18992.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp2 NA19002.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19055.hp1 NA19056.hp2 NA19058.hp2 NA19064.hp2 NA19070.hp2 NA19079.hp2 NA19081.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0007t0003 a0001c0008t0003	a0001c0001t0001g0251 a0001c0001t0002g0010 a0001c0001t0002g0011 others(92): Show a0001c0001t0001g0251 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0014 a0001c0001t0002g0064 a0001c0001t0002g0088 a0001c0001t0002g0182 a0001c0001t0002g0193 a0001c0001t0002g0240 a0001c0001t0003g0078 a0001c0001t0003g0090 a0001c0001t0003g0180 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0221 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0247 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0262 a0001c0001t0006g0031 a0001c0001t0006g0034 a0001c0001t0006g0035 a0001c0001t0006g0036 a0001c0001t0006g0037 a0001c0001t0006g0038 a0001c0001t0010g0173 a0001c0001t0010g0174 a0001c0002t0002g0043 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0099 a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0106 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0002g0114 a0001c0002t0002g0115 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0121 a0001c0002t0002g0122 a0001c0002t0002g0123 a0001c0002t0002g0124 a0001c0002t0002g0125 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0002g0129 a0001c0002t0002g0138 a0001c0002t0002g0166 a0001c0002t0002g0260 a0001c0002t0002g0266 a0001c0002t0002g0267 a0001c0002t0002g0268 a0001c0002t0003g0139 a0001c0002t0003g0142 a0001c0002t0003g0143 a0001c0002t0006g0045 a0001c0002t0006g0046 a0001c0007t0003g0248 a0001c0008t0003g0080	95	280	0.3393	5	c.123 others(24): Show c.1236-2736_1236-2735insCTTCT	SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCP2_chr1_52922276_53056698	53037922	A A	ACACAC ACACAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02965.hp1 HG02970.hp2 others(2): Show HG02486.hp1 HG02965.hp1 HG02970.hp2 HG03486.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0008 a0001c0003t0004 a0001c0003t0008	a0001c0003t0004g0016 a0001c0003t0004g0017 a0001c0003t0004g0022 others(2): Show a0001c0003t0004g0016 a0001c0003t0004g0017 a0001c0003t0004g0022 a0001c0003t0004g0024 a0001c0003t0008g0032	5	280	0.0179	5	c.133 others(22): Show c.1339-994_1339-990dupCACAC	SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr1	TogoVar

Search by Variant

Search

Search Results