Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SCAPER_chr15_76342904_76910340	76497109	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02602.hp1 HG03041.hp1 others(3): Show HG01516.hp2 HG02602.hp1 HG03041.hp1 HG06807.hp2 NA18967.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0007 a0001c0001t0001g0034 a0001c0001t0001g0085 others(3): Show a0001c0001t0001g0007 a0001c0001t0001g0034 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0005t0001g0058 a0001c0005t0001g0310	6	77	0.0779	9	c.295 others(28): Show c.2954+7741_2954+7749dupAAAAAAAAA	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	24/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76813227	T T	TAAAAAAA others(2): Show TAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01123.hp1 HG01167.hp2 others(20): Show HG00621.hp1 HG01123.hp1 HG01167.hp2 HG01243.hp1 HG02027.hp2 HG02258.hp1 HG02486.hp1 HG02717.hp2 HG02896.hp1 HG02922.hp2 HG03471.hp1 HG03516.hp2 HG03654.hp1 HG03710.hp1 HG04184.hp2 NA18522.hp1 NA18945.hp1 NA18948.hp2 NA18969.hp1 NA19007.hp2 NA19009.hp2 NA19043.hp2 NA19063.hp1	a0001 a0003 a0010 a0001 a0003 a0010	a0001c0001 a0001c0004 a0001c0010 others(2): Show a0001c0001 a0001c0004 a0001c0010 a0003c0006 a0010c0019	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0004t0001 a0001c0010t0001 a0003c0006t0001 a0010c0019t0001	a0001c0001t0001g0138 a0001c0001t0003g0116 a0001c0001t0003g0136 others(20): Show a0001c0001t0001g0138 a0001c0001t0003g0116 a0001c0001t0003g0136 a0001c0001t0003g0144 a0001c0001t0003g0153 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0164 a0001c0001t0003g0177 a0001c0001t0004g0017 a0001c0001t0004g0111 a0001c0001t0004g0133 a0001c0001t0004g0147 a0001c0001t0004g0148 a0001c0001t0004g0149 a0001c0001t0004g0151 a0001c0001t0004g0152 a0001c0004t0001g0128 a0001c0010t0001g0169 a0003c0006t0001g0125 a0003c0006t0001g0134 a0003c0006t0001g0139 a0010c0019t0001g0127	23	249	0.0924	9	c.394 others(26): Show c.394-8603_394-8595dupTTTTTTTTT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	5/31			chr15	TogoVar
SCARA5_chr8_27864883_27997673	27919241	G G	GGAGGAGG others(2): Show GGAGGAGGAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(283): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19030.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012	a0001c0001 a0001c0002 a0001c0003 others(30): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0009 a0001c0018 a0001c0022 a0001c0024 a0001c0025 a0002c0006 a0002c0010 a0002c0013 a0002c0015 a0002c0016 a0002c0017 a0002c0021 a0003c0011 a0003c0014 a0004c0012 a0004c0028 a0005c0019 a0005c0029 a0006c0026 a0006c0027 a0007c0033 a0008c0030 a0009c0031 a0010c0034 a0011c0032 a0012c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(124): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0001t0018 a0001c0001t0021 a0001c0001t0030 a0001c0001t0035 a0001c0001t0041 a0001c0001t0047 a0001c0001t0058 a0001c0001t0059 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0001c0002t0009 a0001c0002t0012 a0001c0002t0019 a0001c0002t0021 a0001c0002t0022 a0001c0002t0024 a0001c0002t0043 a0001c0002t0048 a0001c0002t0051 a0001c0002t0056 a0001c0003t0001 a0001c0003t0002 a0001c0003t0009 a0001c0003t0010 a0001c0003t0012 a0001c0003t0015 a0001c0003t0039 a0001c0003t0040 a0001c0003t0042 a0001c0003t0044 a0001c0003t0060 a0001c0004t0003 a0001c0004t0006 a0001c0004t0011 a0001c0004t0016 a0001c0004t0017 a0001c0004t0052 a0001c0004t0053 a0001c0004t0054 a0001c0005t0004 a0001c0005t0008 a0001c0005t0009 a0001c0005t0013 a0001c0005t0038 a0001c0005t0045 a0001c0005t0063 a0001c0007t0001 a0001c0007t0002 a0001c0007t0004 a0001c0007t0005 a0001c0007t0010 a0001c0007t0012 a0001c0007t0013 a0001c0007t0014 a0001c0007t0023 a0001c0007t0033 a0001c0007t0050 a0001c0007t0064 a0001c0008t0001 a0001c0008t0004 a0001c0008t0008 a0001c0008t0010 a0001c0008t0027 a0001c0008t0046 a0001c0008t0057 a0001c0009t0003 a0001c0009t0011 a0001c0009t0017 a0001c0009t0037 a0001c0018t0007 a0001c0022t0006 a0001c0024t0009 a0001c0025t0006 a0002c0006t0001 a0002c0006t0002 a0002c0006t0005 a0002c0006t0007 a0002c0006t0009 a0002c0006t0018 a0002c0006t0023 a0002c0010t0003 a0002c0010t0006 a0002c0010t0016 a0002c0010t0055 a0002c0013t0003 a0002c0013t0006 a0002c0013t0011 a0002c0015t0001 a0002c0015t0014 a0002c0015t0036 a0002c0016t0009 a0002c0016t0021 a0002c0017t0001 a0002c0017t0020 a0002c0021t0019 a0003c0011t0029 a0003c0011t0034 a0003c0011t0049 a0003c0014t0029 a0003c0014t0031 a0003c0014t0062 a0004c0012t0002 a0004c0012t0005 a0004c0012t0007 a0004c0012t0030 a0004c0012t0061 a0004c0028t0004 a0005c0019t0001 a0005c0019t0025 a0005c0029t0033 a0006c0026t0008 a0006c0027t0003 a0007c0033t0003 a0008c0030t0006 a0009c0031t0006 a0010c0034t0008 a0011c0032t0004 a0012c0020t0001	a0001c0001t0001g0001 a0001c0001t0001g0146 a0001c0001t0001g0148 others(282): Show a0001c0001t0001g0001 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0170 a0001c0001t0001g0193 a0001c0001t0001g0206 a0001c0001t0001g0233 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0265 a0001c0001t0001g0273 a0001c0001t0001g0278 a0001c0001t0002g0004 a0001c0001t0002g0045 a0001c0001t0002g0052 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0083 a0001c0001t0002g0088 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0005g0174 a0001c0001t0005g0202 a0001c0001t0005g0216 a0001c0001t0005g0224 a0001c0001t0005g0249 a0001c0001t0007g0056 a0001c0001t0007g0091 a0001c0001t0007g0095 a0001c0001t0008g0140 a0001c0001t0008g0171 a0001c0001t0008g0259 a0001c0001t0008g0293 a0001c0001t0010g0043 a0001c0001t0010g0077 a0001c0001t0010g0080 a0001c0001t0010g0110 a0001c0001t0014g0149 a0001c0001t0014g0207 a0001c0001t0014g0213 a0001c0001t0018g0185 a0001c0001t0021g0094 a0001c0001t0030g0057 a0001c0001t0035g0002 a0001c0001t0041g0078 a0001c0001t0047g0101 a0001c0001t0058g0142 a0001c0001t0059g0181 a0001c0002t0001g0143 a0001c0002t0001g0150 a0001c0002t0001g0153 a0001c0002t0001g0187 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0209 a0001c0002t0001g0219 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0237 a0001c0002t0001g0245 a0001c0002t0001g0252 a0001c0002t0001g0254 a0001c0002t0001g0257 a0001c0002t0001g0274 a0001c0002t0001g0283 a0001c0002t0001g0285 a0001c0002t0002g0021 a0001c0002t0002g0027 a0001c0002t0002g0058 a0001c0002t0002g0062 a0001c0002t0002g0076 a0001c0002t0002g0102 a0001c0002t0002g0111 a0001c0002t0005g0168 a0001c0002t0005g0183 a0001c0002t0005g0201 a0001c0002t0005g0203 a0001c0002t0005g0204 a0001c0002t0005g0210 a0001c0002t0005g0211 a0001c0002t0005g0215 a0001c0002t0005g0270 a0001c0002t0005g0299 a0001c0002t0007g0047 a0001c0002t0007g0089 a0001c0002t0009g0016 a0001c0002t0009g0064 a0001c0002t0009g0107 a0001c0002t0012g0126 a0001c0002t0019g0033 a0001c0002t0021g0067 a0001c0002t0022g0005 a0001c0002t0022g0006 a0001c0002t0022g0007 a0001c0002t0024g0121 a0001c0002t0043g0103 a0001c0002t0048g0100 a0001c0002t0051g0114 a0001c0002t0056g0281 a0001c0003t0001g0155 a0001c0003t0001g0156 a0001c0003t0001g0255 a0001c0003t0001g0261 a0001c0003t0002g0030 a0001c0003t0009g0014 a0001c0003t0009g0037 a0001c0003t0010g0112 a0001c0003t0010g0113 a0001c0003t0012g0167 a0001c0003t0012g0182 a0001c0003t0012g0253 a0001c0003t0015g0042 a0001c0003t0015g0048 a0001c0003t0015g0049 a0001c0003t0015g0085 a0001c0003t0039g0024 a0001c0003t0040g0031 a0001c0003t0042g0010 a0001c0003t0044g0009 a0001c0003t0060g0258 a0001c0004t0003g0145 a0001c0004t0003g0160 a0001c0004t0003g0212 a0001c0004t0003g0214 a0001c0004t0003g0217 a0001c0004t0003g0218 a0001c0004t0003g0228 a0001c0004t0006g0032 a0001c0004t0006g0044 a0001c0004t0006g0046 a0001c0004t0006g0061 a0001c0004t0011g0175 a0001c0004t0011g0248 a0001c0004t0016g0063 a0001c0004t0016g0099 a0001c0004t0017g0137 a0001c0004t0017g0144 a0001c0004t0017g0277 a0001c0004t0052g0275 a0001c0004t0053g0263 a0001c0004t0054g0232 a0001c0005t0004g0157 a0001c0005t0004g0169 a0001c0005t0004g0177 a0001c0005t0004g0178 a0001c0005t0004g0225 a0001c0005t0004g0242 a0001c0005t0004g0243 a0001c0005t0004g0244 a0001c0005t0004g0262 a0001c0005t0004g0295 a0001c0005t0008g0234 a0001c0005t0008g0264 a0001c0005t0009g0092 a0001c0005t0013g0154 a0001c0005t0038g0082 a0001c0005t0045g0050 a0001c0005t0063g0311 a0001c0007t0001g0118 a0001c0007t0002g0020 a0001c0007t0002g0098 a0001c0007t0004g0122 a0001c0007t0004g0158 a0001c0007t0005g0127 a0001c0007t0010g0017 a0001c0007t0012g0267 a0001c0007t0013g0250 a0001c0007t0014g0135 a0001c0007t0023g0260 a0001c0007t0033g0163 a0001c0007t0050g0003 a0001c0007t0064g0313 a0001c0008t0001g0196 a0001c0008t0004g0179 a0001c0008t0004g0180 a0001c0008t0004g0227 a0001c0008t0004g0268 a0001c0008t0004g0287 a0001c0008t0004g0290 a0001c0008t0008g0284 a0001c0008t0008g0289 a0001c0008t0010g0054 a0001c0008t0027g0164 a0001c0008t0027g0247 a0001c0008t0027g0288 a0001c0008t0046g0096 a0001c0008t0057g0116 a0001c0009t0003g0125 a0001c0009t0003g0151 a0001c0009t0003g0220 a0001c0009t0003g0239 a0001c0009t0003g0286 a0001c0009t0003g0291 a0001c0009t0003g0292 a0001c0009t0003g0297 a0001c0009t0011g0123 a0001c0009t0011g0184 a0001c0009t0011g0192 a0001c0009t0017g0141 a0001c0009t0037g0069 a0001c0018t0007g0087 a0001c0022t0006g0026 a0001c0024t0009g0081 a0001c0025t0006g0086 a0002c0006t0001g0152 a0002c0006t0001g0236 a0002c0006t0001g0269 a0002c0006t0001g0282 a0002c0006t0001g0298 a0002c0006t0002g0104 a0002c0006t0005g0173 a0002c0006t0005g0198 a0002c0006t0005g0223 a0002c0006t0007g0084 a0002c0006t0009g0053 a0002c0006t0018g0221 a0002c0006t0018g0222 a0002c0006t0018g0235 a0002c0006t0023g0124 a0002c0010t0003g0147 a0002c0010t0003g0165 a0002c0010t0003g0166 a0002c0010t0003g0186 a0002c0010t0003g0197 a0002c0010t0003g0199 a0002c0010t0003g0208 a0002c0010t0003g0271 a0002c0010t0003g0280 a0002c0010t0006g0025 a0002c0010t0006g0068 a0002c0010t0006g0075 a0002c0010t0016g0036 a0002c0010t0055g0246 a0002c0013t0003g0272 a0002c0013t0003g0300 a0002c0013t0003g0301 a0002c0013t0006g0055 a0002c0013t0011g0256 a0002c0015t0001g0279 a0002c0015t0001g0296 a0002c0015t0014g0226 a0002c0015t0036g0023 a0002c0016t0009g0066 a0002c0016t0009g0093 a0002c0016t0021g0051 a0002c0017t0001g0302 a0002c0017t0020g0034 a0002c0017t0020g0035 a0002c0021t0019g0038 a0003c0011t0029g0008 a0003c0011t0034g0139 a0003c0011t0049g0015 a0003c0014t0029g0018 a0003c0014t0031g0019 a0003c0014t0031g0022 a0003c0014t0062g0306 a0004c0012t0002g0074 a0004c0012t0005g0136 a0004c0012t0005g0138 a0004c0012t0007g0041 a0004c0012t0030g0039 a0004c0012t0061g0161 a0004c0028t0004g0200 a0005c0019t0001g0189 a0005c0019t0025g0190 a0005c0019t0025g0191 a0005c0029t0033g0128 a0006c0026t0008g0266 a0006c0027t0003g0294 a0007c0033t0003g0304 a0008c0030t0006g0040 a0009c0031t0006g0065 a0010c0034t0008g0305 a0011c0032t0004g0276 a0012c0020t0001g0303	286	293	0.9761	9	c.916 others(26): Show c.916+2329_916+2330insGTCCTCCTC	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCARA5_chr8_27864883_27997673	27936592	T T	TAAAAAAA others(2): Show TAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02451.hp2 HG02572.hp2 others(4): Show HG02280.hp2 HG02451.hp2 HG02572.hp2 HG02622.hp2 HG03453.hp1 HG03540.hp1 NA18906.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0003 a0001c0007 a0003c0011 others(1): Show a0001c0003 a0001c0007 a0003c0011 a0005c0029	a0001c0003t0001 a0001c0003t0002 a0001c0003t0009 others(4): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0009 a0001c0003t0010 a0001c0007t0014 a0003c0011t0049 a0005c0029t0033	a0001c0003t0001g0255 a0001c0003t0002g0030 a0001c0003t0009g0014 others(4): Show a0001c0003t0001g0255 a0001c0003t0002g0030 a0001c0003t0009g0014 a0001c0003t0010g0112 a0001c0007t0014g0135 a0003c0011t0049g0015 a0005c0029t0033g0128	7	33	0.2121	9	c.242 others(28): Show c.242-14356_242-14348dupTTTTTTTTT	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	3/8			chr8	TogoVar
SCARA5_chr8_27864883_27997673	27941800	C C	CATTATTA others(2): Show CATTATTATT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01081.hp2 HG01109.hp1 others(7): Show HG00639.hp2 HG01081.hp2 HG01109.hp1 HG01516.hp2 HG02015.hp2 HG02965.hp1 HG03579.hp2 HG03654.hp2 NA19004.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0007 others(3): Show a0001c0001 a0001c0003 a0001c0007 a0001c0009 a0001c0018 a0002c0010	a0001c0001t0001 a0001c0003t0001 a0001c0003t0012 others(5): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0012 a0001c0007t0012 a0001c0007t0023 a0001c0009t0003 a0001c0018t0007 a0002c0010t0055	a0001c0001t0001g0241 a0001c0003t0001g0261 a0001c0003t0012g0167 others(7): Show a0001c0001t0001g0241 a0001c0003t0001g0261 a0001c0003t0012g0167 a0001c0003t0012g0253 a0001c0007t0012g0267 a0001c0007t0023g0260 a0001c0009t0003g0125 a0001c0018t0007g0028 a0001c0018t0007g0087 a0002c0010t0055g0246	10	70	0.1429	9	c.242 others(28): Show c.242-19564_242-19556dupAATAATAAT	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	3/8			chr8	TogoVar
SCARB1_chr12_124771856_124868864	124790009	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00673.hp2 others(20): Show HG00408.hp1 HG00438.hp1 HG00673.hp2 HG01081.hp2 HG01123.hp2 HG01361.hp1 HG01943.hp1 HG02280.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02723.hp1 HG02886.hp1 HG02970.hp1 HG03516.hp2 HG03669.hp1 HG03710.hp2 NA18747.hp2 NA18965.hp1 NA18983.hp2 NA19000.hp1 NA19003.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0018 a0001c0001t0019 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004	a0001c0001t0001g0111 a0001c0001t0003g0038 a0001c0001t0003g0117 others(20): Show a0001c0001t0001g0111 a0001c0001t0003g0038 a0001c0001t0003g0117 a0001c0001t0003g0224 a0001c0001t0003g0239 a0001c0001t0005g0043 a0001c0001t0005g0047 a0001c0001t0005g0243 a0001c0001t0008g0027 a0001c0001t0008g0125 a0001c0001t0011g0235 a0001c0001t0018g0071 a0001c0001t0019g0061 a0001c0004t0001g0099 a0001c0004t0001g0154 a0001c0004t0001g0277 a0001c0004t0002g0238 a0001c0004t0002g0271 a0001c0004t0003g0203 a0001c0004t0004g0195 a0001c0004t0004g0208 a0001c0004t0004g0218 a0001c0004t0004g0230	23	240	0.0958	9	c.120 others(28): Show c.1203-2561_1203-2553dupTTTTTTTTT	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	9/12			chr12	TogoVar
SCARB2_chr4_76153737_76218824	76189474	C C	CTGTTGTT others(2): Show CTGTTGTTGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01515.hp1 HG01517.hp2 others(15): Show HG00280.hp1 HG01515.hp1 HG01517.hp2 HG01891.hp1 HG01928.hp2 HG02027.hp2 HG02055.hp2 HG03017.hp2 HG03453.hp2 HG03710.hp1 NA18747.hp1 NA18962.hp2 NA18964.hp2 NA18971.hp1 NA18984.hp2 NA18986.hp2 NA19043.hp2 NA19068.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0003c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0012 a0001c0002t0006 a0001c0008t0012 a0003c0009t0028	a0001c0001t0001g0012 a0001c0001t0001g0030 a0001c0001t0001g0138 others(12): Show a0001c0001t0001g0012 a0001c0001t0001g0030 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0157 a0001c0001t0002g0235 a0001c0001t0002g0261 a0001c0001t0003g0156 a0001c0001t0004g0276 a0001c0001t0004g0277 a0001c0001t0009g0197 a0001c0001t0012g0177 a0001c0002t0006g0162 a0001c0008t0012g0183 a0003c0009t0028g0226	18	62	0.2903	9	c.275 others(26): Show c.275+6224_275+6232dupACAACAACA	SCARB2	ENSG00000138760.11	transcript	ENST00000264896.8	protein_coding	2/11			chr4	TogoVar
SCCPDH_chr1_246719409_246773137	246722565	T T	TTTTTGTT others(2): Show TTTTTGTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00621.hp2 HG00673.hp2 others(71): Show HG00438.hp1 HG00621.hp2 HG00673.hp2 HG01109.hp1 HG01243.hp2 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01952.hp1 HG01981.hp1 HG02040.hp1 HG02071.hp2 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02523.hp2 HG02572.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG02895.hp2 HG02896.hp2 HG02965.hp1 HG02970.hp1 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 NA18747.hp1 NA18906.hp2 NA18944.hp1 NA18950.hp1 NA18959.hp2 NA18967.hp1 NA18969.hp2 NA18971.hp2 NA18979.hp1 NA18983.hp1 NA18989.hp1 NA18992.hp1 NA18993.hp2 NA19002.hp1 NA19003.hp1 NA19011.hp1 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19060.hp2 NA19068.hp2 NA19077.hp2 NA19078.hp1 NA19081.hp2 NA19087.hp1 NA19088.hp2 NA20129.hp1 NA20129.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0002t0004 a0001c0005t0013 a0001c0007t0008 a0004c0006t0001	a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0260 others(49): Show a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0260 a0001c0001t0001g0275 a0001c0001t0002g0053 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0261 a0001c0001t0007g0055 a0001c0001t0007g0262 a0001c0001t0007g0271 a0001c0001t0007g0272 a0001c0001t0007g0273 a0001c0001t0007g0274 a0001c0001t0008g0023 a0001c0001t0008g0201 a0001c0001t0008g0202 a0001c0001t0008g0203 a0001c0002t0004g0006 a0001c0002t0004g0012 a0001c0002t0004g0013 a0001c0002t0004g0021 a0001c0002t0004g0022 a0001c0002t0004g0045 a0001c0002t0004g0175 a0001c0002t0004g0176 a0001c0002t0004g0177 a0001c0002t0004g0178 a0001c0002t0004g0179 a0001c0002t0004g0180 a0001c0002t0004g0181 a0001c0002t0004g0182 a0001c0002t0004g0183 a0001c0002t0004g0184 a0001c0002t0004g0185 a0001c0002t0004g0186 a0001c0002t0004g0187 a0001c0002t0004g0188 a0001c0002t0004g0189 a0001c0002t0004g0190 a0001c0002t0004g0191 a0001c0002t0004g0192 a0001c0002t0004g0193 a0001c0002t0004g0195 a0001c0002t0004g0196 a0001c0002t0004g0197 a0001c0002t0004g0198 a0001c0005t0013g0105 a0001c0007t0008g0254 a0004c0006t0001g0255	74	300	0.2467	9	c.-18 others(20): Show c.-1858_-1857insTTTTGTTTG	SCCPDH	ENSG00000143653.10	transcript	ENST00000366510.4	protein_coding		1843		chr1	TogoVar
SCD5_chr4_82624539_82803796	82702130	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01496.hp2 HG01515.hp2 others(17): Show HG01167.hp1 HG01496.hp2 HG01515.hp2 HG02004.hp1 HG02056.hp2 HG03710.hp2 NA18942.hp1 NA18947.hp2 NA18950.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18965.hp1 NA18968.hp1 NA18986.hp2 NA18992.hp1 NA18993.hp2 NA19060.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0014 a0001c0001t0024	a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0152 others(17): Show a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0152 a0001c0001t0001g0158 a0001c0001t0001g0171 a0001c0001t0002g0041 a0001c0001t0002g0046 a0001c0001t0002g0053 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0109 a0001c0001t0002g0115 a0001c0001t0002g0127 a0001c0001t0002g0133 a0001c0001t0002g0141 a0001c0001t0002g0159 a0001c0001t0002g0180 a0001c0001t0003g0189 a0001c0001t0014g0091 a0001c0001t0024g0051	20	26	0.7692	9	c.363 others(26): Show c.363+3144_363+3152dupAAAAAAAAA	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	2/4			chr4	TogoVar
SCD5_chr4_82624539_82803796	82720441	T T	TACAAAAA others(2): Show TACAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00642.hp2 HG00738.hp2 others(34): Show HG00558.hp1 HG00642.hp2 HG00738.hp2 HG01069.hp1 HG01081.hp1 HG01167.hp2 HG01192.hp1 HG01243.hp1 HG01258.hp1 HG01516.hp2 HG01884.hp2 HG01928.hp1 HG02004.hp1 HG02004.hp2 HG02055.hp2 HG02132.hp1 HG02165.hp2 HG02280.hp2 HG02615.hp1 HG03195.hp2 HG03688.hp1 HG03704.hp1 HG03927.hp1 HG04204.hp2 NA18522.hp1 NA18906.hp2 NA18941.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18955.hp1 NA18963.hp1 NA18992.hp2 NA18994.hp1 NA19066.hp1 NA19077.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0013 a0001c0001t0023 a0001c0001t0025 a0001c0001t0028 a0001c0001t0032 a0001c0002t0029	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(34): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0036 a0001c0001t0001g0070 a0001c0001t0001g0088 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0140 a0001c0001t0001g0147 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0160 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0002g0097 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0117 a0001c0001t0002g0134 a0001c0001t0002g0139 a0001c0001t0002g0143 a0001c0001t0002g0174 a0001c0001t0003g0073 a0001c0001t0003g0111 a0001c0001t0004g0018 a0001c0001t0005g0076 a0001c0001t0006g0005 a0001c0001t0007g0107 a0001c0001t0013g0116 a0001c0001t0023g0082 a0001c0001t0025g0037 a0001c0001t0028g0058 a0001c0001t0032g0194 a0001c0002t0029g0207	37	86	0.4302	9	c.233 others(28): Show c.233-15029_233-15028insTTTTTTTGT	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	1/4			chr4	TogoVar
SCEL_chr13_77530706_77650263	77633442	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00558.hp1 others(27): Show HG00099.hp2 HG00408.hp2 HG00558.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01952.hp2 HG02015.hp1 HG02040.hp1 HG02074.hp2 HG02080.hp2 HG02165.hp2 HG02293.hp2 HG02698.hp1 NA18612.hp1 NA18941.hp2 NA18944.hp1 NA18946.hp1 NA18948.hp2 NA18952.hp1 NA18957.hp1 NA18987.hp1 NA18989.hp2 NA19011.hp2 NA19063.hp1 NA19068.hp2 NA19070.hp1 NA19075.hp1 NA19083.hp1 NA19084.hp2	a0001 a0002 a0014 a0001 a0002 a0014	a0001c0004 a0002c0001 a0014c0021 a0001c0004 a0002c0001 a0014c0021	a0001c0004t0001 a0002c0001t0001 a0002c0001t0007 others(1): Show a0001c0004t0001 a0002c0001t0001 a0002c0001t0007 a0014c0021t0001	a0001c0004t0001g0024 a0001c0004t0001g0038 a0001c0004t0001g0243 others(27): Show a0001c0004t0001g0024 a0001c0004t0001g0038 a0001c0004t0001g0243 a0001c0004t0001g0244 a0001c0004t0001g0245 a0002c0001t0001g0062 a0002c0001t0001g0073 a0002c0001t0001g0136 a0002c0001t0001g0149 a0002c0001t0001g0154 a0002c0001t0001g0155 a0002c0001t0001g0158 a0002c0001t0001g0159 a0002c0001t0001g0163 a0002c0001t0001g0164 a0002c0001t0001g0165 a0002c0001t0001g0167 a0002c0001t0001g0169 a0002c0001t0001g0179 a0002c0001t0001g0181 a0002c0001t0001g0187 a0002c0001t0001g0188 a0002c0001t0001g0193 a0002c0001t0001g0196 a0002c0001t0001g0263 a0002c0001t0001g0270 a0002c0001t0001g0271 a0002c0001t0001g0272 a0002c0001t0007g0157 a0014c0021t0001g0172	30	131	0.2290	9	c.169 others(26): Show c.1692-921_1692-913dupAAAAAAAAA	SCEL	ENSG00000136155.17	transcript	ENST00000349847.4	protein_coding	28/32		INFO_REALIGN_3_PRIME	chr13	TogoVar
SCFD2_chr4_52867982_53371061	53370409	C C	CCTTTTTT others(2): Show CCTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02258.hp1 HG02647.hp1 others(6): Show HG02109.hp1 HG02258.hp1 HG02647.hp1 HG02896.hp2 HG02897.hp2 HG03041.hp2 NA18906.hp2 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0003t0003 a0001c0003t0013 a0001c0004t0002	a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 others(6): Show a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0002g0078 a0001c0001t0010g0061 a0001c0003t0003g0062 a0001c0003t0013g0073 a0001c0004t0002g0053	9	30	0.3000	9	c.-44 others(20): Show c.-4469_-4468insAAAAAAAAG	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding		4349		chr4	TogoVar
SCG5_chr15_32636710_32702092	32688958	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01081.hp1 HG01516.hp2 others(7): Show HG00099.hp2 HG01081.hp1 HG01516.hp2 HG01952.hp2 HG01981.hp2 HG02040.hp1 HG06807.hp1 NA18949.hp1 NA18963.hp2 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0002t0003 a0001c0001t0001 a0001c0001t0005 a0001c0002t0003	a0001c0001t0001g0108 a0001c0001t0001g0157 a0001c0001t0001g0194 others(7): Show a0001c0001t0001g0108 a0001c0001t0001g0157 a0001c0001t0001g0194 a0001c0001t0001g0214 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0307 a0001c0001t0001g0350 a0001c0001t0005g0383 a0001c0002t0003g0375	10	293	0.0341	9	c.490 others(26): Show c.490-2744_490-2736dupAAAAAAAAA	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCGB1D1_chr11_62185216_62198539	62196439	A A	AATTATTA others(2): Show AATTATTATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp2 HG01261.hp2 others(13): Show HG01243.hp1 HG01243.hp2 HG01261.hp2 HG02486.hp1 HG02572.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02818.hp2 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0020	16	52	0.3077	9	c.30 others(20): Show c.3011_*3012insATTATTATT	SCGB1D1	ENSG00000168515.3	transcript	ENST00000306238.3	protein_coding		2901		chr11	TogoVar
SCGB1D1_chr11_62185216_62198539	62196449	A A	ATTATTAT others(2): Show ATTATTATTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01070.hp1 HG01074.hp1 others(13): Show HG00735.hp1 HG01070.hp1 HG01074.hp1 HG01081.hp2 HG01106.hp1 HG01175.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG02148.hp2 HG02300.hp1 HG04184.hp1 NA18944.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0035 a0001c0001t0001g0007 a0001c0001t0001g0035	16	422	0.0379	9	c.30 others(20): Show c.3021_*3022insTTATTATTG	SCGB1D1	ENSG00000168515.3	transcript	ENST00000306238.3	protein_coding		2911		chr11	TogoVar
SCGB2A1_chr11_62203673_62218943	62213106	A A	ATATATAT others(2): Show ATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00673.hp2 HG03710.hp1 others(15): Show HG00621.hp1 HG00673.hp2 HG03710.hp1 NA18612.hp2 NA18946.hp2 NA18969.hp1 NA18972.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18990.hp1 NA19009.hp2 NA19010.hp1 NA19058.hp1 NA19065.hp1 NA19077.hp1 NA19080.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0045 a0001c0001t0001g0095 a0001c0001t0001g0107 a0001c0001t0001g0109	18	65	0.2769	9	c.244 others(24): Show c.244-619_244-618insATATATATT	SCGB2A1	ENSG00000124939.6	transcript	ENST00000244930.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
SCGB2A2_chr11_62265158_62278160	62272042	T T	TAAAAAAA others(2): Show TAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00438.hp1 others(111): Show HG00099.hp2 HG00280.hp1 HG00438.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG01071.hp1 HG01099.hp2 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG02004.hp1 HG02027.hp2 HG02074.hp1 HG02135.hp1 HG02293.hp2 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02698.hp1 HG02698.hp2 HG02895.hp1 HG02896.hp1 HG03139.hp1 HG03239.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04228.hp1 HG04228.hp2 NA18747.hp1 NA18939.hp2 NA18940.hp1 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18974.hp2 NA18977.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA19005.hp1 NA19005.hp2 NA19011.hp1 NA19055.hp1 NA19055.hp2 NA19060.hp1 NA19064.hp1 NA19064.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19082.hp1 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0005 a0001c0001 a0001c0002 a0004c0005	a0001c0001t0001 a0001c0002t0001 a0004c0005t0003 a0001c0001t0001 a0001c0002t0001 a0004c0005t0003	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0016 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0072 a0001c0002t0001g0004 a0004c0005t0003g0062	114	172	0.6628	9	c.244 others(24): Show c.244-902_244-894dupAAAAAAAAA	SCGB2A2	ENSG00000110484.7	transcript	ENST00000227918.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
SCIN_chr7_12565720_12665182	12578909	G G	GTTTTTTT others(2): Show GTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp2 HG00558.hp2 others(23): Show HG00099.hp2 HG00544.hp2 HG00558.hp2 HG00621.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01257.hp1 HG01258.hp1 HG01928.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02071.hp1 HG02083.hp2 HG02523.hp2 HG03491.hp1 HG03688.hp1 NA18747.hp1 NA18944.hp1 NA18952.hp1 NA18979.hp1 NA19080.hp2	a0002 a0011 a0013 a0002 a0011 a0013	a0002c0002 a0002c0003 a0002c0010 others(2): Show a0002c0002 a0002c0003 a0002c0010 a0011c0013 a0013c0020	a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 others(19): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0008 a0002c0002t0012 a0002c0002t0016 a0002c0002t0026 a0002c0002t0038 a0002c0002t0069 a0002c0002t0084 a0002c0002t0098 a0002c0002t0129 a0002c0002t0130 a0002c0002t0177 a0002c0003t0002 a0002c0003t0013 a0002c0010t0001 a0002c0010t0068 a0002c0010t0128 a0011c0013t0009 a0013c0020t0038	a0002c0002t0001g0258 a0002c0002t0001g0260 a0002c0002t0001g0268 others(23): Show a0002c0002t0001g0258 a0002c0002t0001g0260 a0002c0002t0001g0268 a0002c0002t0001g0351 a0002c0002t0002g0267 a0002c0002t0004g0273 a0002c0002t0005g0262 a0002c0002t0005g0270 a0002c0002t0008g0271 a0002c0002t0012g0334 a0002c0002t0016g0274 a0002c0002t0026g0352 a0002c0002t0038g0264 a0002c0002t0069g0269 a0002c0002t0084g0259 a0002c0002t0098g0253 a0002c0002t0129g0007 a0002c0002t0130g0007 a0002c0002t0177g0263 a0002c0003t0002g0255 a0002c0003t0013g0256 a0002c0010t0001g0261 a0002c0010t0068g0265 a0002c0010t0128g0266 a0011c0013t0009g0257 a0013c0020t0038g0272	26	191	0.1361	9	c.354 others(24): Show c.354+698_354+706dupTTTTTTTTT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
SCIN_chr7_12565720_12665182	12657572	A A	ATATATAT others(2): Show ATATATATTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp1 HG00597.hp2 HG04184.hp1 others(3): Show HG00408.hp1 HG00597.hp2 HG04184.hp1 NA18979.hp2 NA19085.hp2 NA19091.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0018	a0001c0001 a0002c0003 a0006c0006 others(1): Show a0001c0001 a0002c0003 a0006c0006 a0018c0017	a0001c0001t0009 a0001c0001t0045 a0002c0003t0058 others(2): Show a0001c0001t0009 a0001c0001t0045 a0002c0003t0058 a0006c0006t0007 a0018c0017t0008	a0001c0001t0009g0056 a0001c0001t0045g0053 a0001c0001t0045g0211 others(3): Show a0001c0001t0009g0056 a0001c0001t0045g0053 a0001c0001t0045g0211 a0002c0003t0058g0361 a0006c0006t0007g0151 a0018c0017t0008g0216	6	187	0.0321	9	c.48 others(20): Show c.4858_*4859insATATATTTT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	16/16	4859	INFO_REALIGN_3_PRIME	chr7	TogoVar
SCIN_chr7_12565720_12665182	12657573	T T	TATATATA others(2): Show TATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02165.hp1 NA18966.hp2 NA19088.hp2 HG02165.hp1 NA18966.hp2 NA19088.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0008 a0001c0001 a0007c0008	a0001c0001t0018 a0007c0008t0147 a0001c0001t0018 a0007c0008t0147	a0001c0001t0018g0110 a0001c0001t0018g0187 a0007c0008t0147g0156 a0001c0001t0018g0110 a0001c0001t0018g0187 a0007c0008t0147g0156	3	341	0.0088	9	c.48 others(20): Show c.4858_*4859insATATATATA	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	16/16	4859		chr7	TogoVar
SCLY_chr2_238056001_238104413	238065660	T T	TTTATTAT others(2): Show TTTATTATTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp2 others(109): Show HG00099.hp1 HG00140.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01109.hp2 HG01891.hp2 HG01978.hp1 HG02004.hp2 HG02040.hp1 HG02083.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02818.hp1 HG02965.hp2 HG03209.hp1 HG03471.hp2 HG03490.hp1 HG03540.hp2 HG03831.hp1 HG03834.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18949.hp2 NA18953.hp1 NA18954.hp2 NA18956.hp1 NA18957.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp2 NA18970.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18979.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18993.hp2 NA18994.hp1 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19007.hp1 NA19011.hp2 NA19043.hp1 NA19057.hp2 NA19059.hp2 NA19060.hp2 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp2 NA19074.hp2 NA19076.hp2 NA19079.hp2 NA19080.hp1 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19087.hp2 NA19088.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20905.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0009 a0010	a0001c0001 a0001c0003 a0001c0010 others(5): Show a0001c0001 a0001c0003 a0001c0010 a0002c0002 a0003c0006 a0005c0007 a0009c0016 a0010c0012	a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 others(66): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0039 a0001c0001t0043 a0001c0001t0045 a0001c0001t0048 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0081 a0001c0001t0082 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0101 a0001c0001t0103 a0001c0001t0104 a0001c0001t0106 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0001t0114 a0001c0001t0115 a0001c0001t0118 a0001c0001t0119 a0001c0001t0120 a0001c0001t0121 a0001c0001t0122 a0001c0001t0123 a0001c0001t0124 a0001c0001t0125 a0001c0001t0126 a0001c0001t0128 a0001c0001t0129 a0001c0001t0162 a0001c0001t0163 a0001c0001t0168 a0001c0001t0169 a0001c0003t0135 a0001c0003t0147 a0001c0010t0004 a0001c0010t0005 a0002c0002t0015 a0003c0006t0009 a0003c0006t0088 a0005c0007t0032 a0005c0007t0038 a0005c0007t0172 a0009c0016t0023 a0010c0012t0048	a0001c0001t0004g0009 a0001c0001t0004g0056 a0001c0001t0004g0089 others(94): Show a0001c0001t0004g0009 a0001c0001t0004g0056 a0001c0001t0004g0089 a0001c0001t0005g0044 a0001c0001t0005g0063 a0001c0001t0005g0146 a0001c0001t0005g0149 a0001c0001t0007g0001 a0001c0001t0007g0004 a0001c0001t0007g0024 a0001c0001t0007g0095 a0001c0001t0007g0097 a0001c0001t0007g0109 a0001c0001t0011g0005 a0001c0001t0011g0142 a0001c0001t0011g0143 a0001c0001t0012g0009 a0001c0001t0012g0058 a0001c0001t0012g0150 a0001c0001t0013g0001 a0001c0001t0013g0092 a0001c0001t0013g0093 a0001c0001t0013g0094 a0001c0001t0013g0104 a0001c0001t0017g0059 a0001c0001t0017g0113 a0001c0001t0018g0005 a0001c0001t0018g0066 a0001c0001t0022g0020 a0001c0001t0022g0043 a0001c0001t0023g0115 a0001c0001t0023g0117 a0001c0001t0024g0062 a0001c0001t0026g0014 a0001c0001t0039g0001 a0001c0001t0039g0098 a0001c0001t0043g0052 a0001c0001t0045g0001 a0001c0001t0045g0068 a0001c0001t0048g0091 a0001c0001t0050g0004 a0001c0001t0051g0102 a0001c0001t0051g0103 a0001c0001t0052g0001 a0001c0001t0077g0114 a0001c0001t0078g0151 a0001c0001t0079g0027 a0001c0001t0081g0001 a0001c0001t0082g0004 a0001c0001t0089g0147 a0001c0001t0090g0054 a0001c0001t0091g0061 a0001c0001t0092g0060 a0001c0001t0093g0065 a0001c0001t0096g0005 a0001c0001t0097g0090 a0001c0001t0098g0042 a0001c0001t0101g0064 a0001c0001t0103g0027 a0001c0001t0104g0148 a0001c0001t0106g0112 a0001c0001t0109g0053 a0001c0001t0110g0295 a0001c0001t0111g0085 a0001c0001t0112g0055 a0001c0001t0114g0057 a0001c0001t0115g0088 a0001c0001t0118g0001 a0001c0001t0119g0100 a0001c0001t0120g0001 a0001c0001t0121g0004 a0001c0001t0122g0001 a0001c0001t0123g0001 a0001c0001t0124g0106 a0001c0001t0125g0099 a0001c0001t0126g0096 a0001c0001t0128g0105 a0001c0001t0129g0024 a0001c0001t0162g0021 a0001c0001t0163g0021 a0001c0001t0168g0086 a0001c0001t0169g0152 a0001c0003t0135g0145 a0001c0003t0147g0144 a0001c0010t0004g0012 a0001c0010t0005g0012 a0002c0002t0015g0087 a0003c0006t0009g0287 a0003c0006t0088g0243 a0005c0007t0032g0277 a0005c0007t0032g0278 a0005c0007t0032g0279 a0005c0007t0038g0263 a0005c0007t0038g0281 a0005c0007t0172g0280 a0009c0016t0023g0116 a0010c0012t0048g0111	112	149	0.7517	9	c.202 others(26): Show c.202+1215_202+1223dupATTATTATT	SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCMH1_chr1_41022202_41247306	41089787	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00609.hp1 HG01358.hp1 others(13): Show HG00280.hp1 HG00609.hp1 HG01358.hp1 HG02040.hp1 HG02071.hp1 HG03098.hp1 HG03239.hp1 HG03579.hp2 HG03927.hp2 HG04184.hp1 HG04228.hp2 NA18960.hp2 NA18992.hp1 NA19077.hp1 NA19080.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0140 a0001c0001t0001g0199 a0001c0001t0001g0200 others(13): Show a0001c0001t0001g0140 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0220 a0001c0001t0001g0243 a0001c0001t0008g0002 a0001c0001t0008g0003	16	74	0.2162	9	c.746 others(28): Show c.746-14345_746-14337dupAAAAAAAAA	SCMH1	ENSG00000010803.17	transcript	ENST00000695335.1	protein_coding	8/15			chr1	TogoVar
SCMH1_chr1_41022202_41247306	41244447	C C	CTTTTTTT others(2): Show CTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00735.hp1 others(23): Show HG00099.hp2 HG00140.hp2 HG00735.hp1 HG00741.hp2 HG01070.hp1 HG01099.hp2 HG01106.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp2 HG01256.hp2 HG01258.hp1 HG01433.hp2 HG02040.hp2 HG02258.hp1 HG02735.hp2 NA18940.hp2 NA18943.hp1 NA18945.hp2 NA18952.hp2 NA18962.hp2 NA18963.hp1 NA18975.hp1 NA18978.hp1 NA18982.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0107 a0001c0001t0003g0109 a0001c0001t0003g0110 others(23): Show a0001c0001t0003g0107 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0139	26	185	0.1405	9	c.-25 others(20): Show c.-2507_-2506insAAAAAAAAA	SCMH1	ENSG00000010803.17	transcript	ENST00000695335.1	protein_coding		2142		chr1	TogoVar
SCML4_chr6_107697154_107829313	107802689	C C	CTCTCCCT others(2): Show CTCTCCCTCT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03453.hp1 HG03471.hp1 others(7): Show HG03041.hp2 HG03453.hp1 HG03471.hp1 NA18522.hp1 NA18977.hp1 NA18988.hp2 NA19054.hp2 NA19060.hp2 NA19079.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0009 a0001c0010	a0001c0001t0003 a0001c0001t0013 a0001c0002t0001 others(4): Show a0001c0001t0003 a0001c0001t0013 a0001c0002t0001 a0001c0003t0007 a0001c0008t0001 a0001c0009t0001 a0001c0010t0007	a0001c0001t0003g0013 a0001c0001t0003g0041 a0001c0001t0013g0073 others(7): Show a0001c0001t0003g0013 a0001c0001t0003g0041 a0001c0001t0013g0073 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0003t0007g0042 a0001c0008t0001g0249 a0001c0009t0001g0140 a0001c0010t0007g0141 a0001c0010t0007g0142	10	191	0.0524	9	c.-60 others(28): Show c.-60+21436_-60+21437insAGAGGGAGA	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107817620	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01891.hp1 others(8): Show HG01167.hp1 HG01169.hp1 HG01891.hp1 HG02622.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG03209.hp1 HG03540.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0002t0029 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0029 a0001c0003t0012 a0001c0003t0015	a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0159 others(8): Show a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0002t0001g0165 a0001c0002t0029g0152 a0001c0003t0012g0131 a0001c0003t0012g0132 a0001c0003t0015g0161 a0001c0003t0015g0162 a0001c0003t0015g0163	11	146	0.0753	9	c.-60 others(26): Show c.-60+6497_-60+6505dupTTTTTTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCN1A_chr2_165980813_166133020	166118298	G G	GCTTCTTT others(2): Show GCTTCTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG01123.hp1 others(16): Show HG00408.hp2 HG00544.hp1 HG01123.hp1 HG01346.hp2 HG01358.hp2 HG01978.hp1 HG02055.hp2 HG02109.hp2 HG02280.hp1 HG02647.hp2 HG03098.hp1 HG03209.hp2 HG04204.hp1 NA18939.hp1 NA18941.hp2 NA18960.hp1 NA18980.hp2 NA19054.hp1 NA19084.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0008 others(1): Show a0001c0001 a0001c0006 a0001c0008 a0002c0002	a0001c0001t0002 a0001c0001t0009 a0001c0001t0012 others(6): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0012 a0001c0001t0020 a0001c0001t0034 a0001c0006t0001 a0001c0008t0003 a0002c0002t0013 a0002c0002t0037	a0001c0001t0002g0019 a0001c0001t0002g0029 a0001c0001t0002g0042 others(16): Show a0001c0001t0002g0019 a0001c0001t0002g0029 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0048 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0068 a0001c0001t0002g0072 a0001c0001t0009g0005 a0001c0001t0012g0028 a0001c0001t0012g0030 a0001c0001t0020g0012 a0001c0001t0034g0006 a0001c0006t0001g0247 a0001c0008t0003g0062 a0002c0002t0013g0040 a0002c0002t0037g0306	19	266	0.0714	9	c.-14 others(28): Show c.-142+8625_-142+8626insAAAAAGAAG	SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	2/28			chr2	TogoVar
SCN1B_chr19_35025470_35045449	35036732	C C	CTATTATT others(2): Show CTATTATTAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01070.hp2 HG01884.hp2 others(7): Show HG00639.hp2 HG01070.hp2 HG01884.hp2 HG01891.hp2 HG02055.hp2 HG02717.hp2 HG02965.hp2 HG03688.hp1 HG03834.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0009 others(1): Show a0001c0001 a0001c0003 a0001c0009 a0002c0004	a0001c0001t0001 a0001c0001t0004 a0001c0003t0010 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0003t0010 a0001c0009t0001 a0002c0004t0011	a0001c0001t0001g0020 a0001c0001t0001g0102 a0001c0001t0001g0107 others(4): Show a0001c0001t0001g0020 a0001c0001t0001g0102 a0001c0001t0001g0107 a0001c0001t0004g0078 a0001c0003t0010g0040 a0001c0009t0001g0052 a0002c0004t0011g0064	10	267	0.0375	9	c.449 others(26): Show c.449-2359_449-2351dupATTATTATT	SCN1B	ENSG00000105711.14	transcript	ENST00000262631.11	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
SCN2A_chr2_165234414_165397304	165291405	T T	TCCCTGTC others(2): Show TCCCTGTCTG	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG03669.hp1 NA18612.hp1 HG02132.hp2 HG03669.hp1 NA18612.hp1	a0001 a0001	a0001c0002 a0001c0017 a0001c0002 a0001c0017	a0001c0002t0001 a0001c0017t0001 a0001c0002t0001 a0001c0017t0001	a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0017t0001g0196 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0017t0001g0196	3	356	0.0084	9	c.-51 others(26): Show c.-51-4368_-51-4367insCCCTGTCTG	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26			chr2	TogoVar
SCN2A_chr2_165234414_165397304	165291491	T T	TTTCTTTT others(2): Show TTTCTTTTTC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01346.hp1 HG01928.hp2 others(3): Show HG01070.hp1 HG01346.hp1 HG01928.hp2 HG01981.hp2 HG02273.hp1 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0178 a0001c0001t0002g0189 a0001c0001t0002g0216 others(3): Show a0001c0001t0002g0178 a0001c0001t0002g0189 a0001c0001t0002g0216 a0001c0001t0002g0220 a0001c0001t0002g0224 a0001c0001t0002g0310	6	212	0.0283	9	c.-51 others(26): Show c.-51-4280_-51-4279insCTTTTTCTT	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN2A_chr2_165234414_165397304	165392742	C C	CAAAAAAA others(2): Show CAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00438.hp2 others(49): Show HG00099.hp1 HG00408.hp2 HG00438.hp2 HG00733.hp2 HG00738.hp1 HG01070.hp1 HG01081.hp1 HG01099.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01433.hp2 HG01928.hp2 HG01943.hp1 HG01975.hp1 HG01993.hp1 HG02015.hp2 HG02040.hp2 HG02129.hp1 HG02132.hp1 HG02155.hp1 HG02273.hp1 HG02293.hp2 HG02451.hp2 HG02523.hp2 HG02698.hp1 HG02723.hp2 HG03017.hp1 HG03669.hp2 HG04228.hp1 NA18612.hp2 NA18944.hp2 NA18946.hp1 NA18956.hp2 NA18961.hp2 NA18962.hp2 NA18971.hp2 NA18984.hp1 NA18992.hp1 NA19002.hp1 NA19003.hp2 NA19010.hp2 NA19011.hp2 NA19060.hp1 NA19068.hp1 NA19072.hp1 NA19082.hp1 NA19085.hp1 NA19089.hp1 NA20905.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0016 a0005c0011 a0001c0001 a0001c0016 a0005c0011	a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 others(4): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0016t0002 a0005c0011t0002	a0001c0001t0002g0002 a0001c0001t0002g0026 a0001c0001t0002g0076 others(48): Show a0001c0001t0002g0002 a0001c0001t0002g0026 a0001c0001t0002g0076 a0001c0001t0002g0087 a0001c0001t0002g0098 a0001c0001t0002g0113 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0159 a0001c0001t0002g0163 a0001c0001t0002g0168 a0001c0001t0002g0178 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0204 a0001c0001t0002g0207 a0001c0001t0002g0213 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0234 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0255 a0001c0001t0002g0302 a0001c0001t0002g0310 a0001c0001t0002g0329 a0001c0001t0002g0334 a0001c0001t0007g0187 a0001c0001t0010g0165 a0001c0001t0010g0253 a0001c0001t0011g0338 a0001c0001t0013g0040 a0001c0016t0002g0240 a0005c0011t0002g0116	52	143	0.3636	9	c.29 others(20): Show c.2918_*2919insAAAAAAAAA	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding		439		chr2	TogoVar
SCN2B_chr11_118157806_118181639	118174091	C C	CTTTTGTT others(2): Show CTTTTGTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01891.hp1 HG02015.hp1 others(13): Show HG01361.hp2 HG01891.hp1 HG02015.hp1 HG02300.hp2 HG03225.hp2 HG03927.hp2 NA18941.hp1 NA18944.hp1 NA18957.hp2 NA18959.hp2 NA18979.hp1 NA19065.hp1 NA19076.hp1 NA19077.hp1 NA19084.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0001t0024 a0001c0001t0027	a0001c0001t0001g0012 a0001c0001t0001g0178 a0001c0001t0001g0179 others(8): Show a0001c0001t0001g0012 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0005g0185 a0001c0001t0006g0046 a0001c0001t0012g0183 a0001c0001t0024g0220 a0001c0001t0027g0188	16	162	0.0988	9	c.70+ others(24): Show c.70+2270_70+2271insAAAACAAAA	SCN2B	ENSG00000149575.9	transcript	ENST00000278947.6	protein_coding	1/3			chr11	TogoVar
SCN3A_chr2_165082526_165209050	165142723	G G	GTGTTGTT others(2): Show GTGTTGTTGT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02145.hp2 NA18953.hp2 others(5): Show HG01361.hp2 HG02145.hp2 NA18953.hp2 NA18954.hp1 NA19004.hp1 NA19007.hp1 NA19074.hp1 NA19084.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0151 a0001c0002t0001g0168 a0001c0002t0001g0184 others(5): Show a0001c0002t0001g0151 a0001c0002t0001g0168 a0001c0002t0001g0184 a0001c0002t0001g0225 a0001c0002t0001g0263 a0001c0002t0003g0287 a0001c0002t0003g0288 a0001c0002t0003g0289	8	84	0.0952	9	c.167 others(28): Show c.1672-1734_1672-1726dupACAACAACA	SCN3A	ENSG00000153253.20	transcript	ENST00000283254.12	protein_coding	12/27			chr2	TogoVar
SCN3A_chr2_165082526_165209050	165153987	A A	ATTTTTTT others(2): Show ATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG00642.hp1 others(32): Show HG00438.hp1 HG00558.hp1 HG00642.hp1 HG01099.hp1 HG01255.hp1 HG01261.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp1 HG01928.hp1 HG01981.hp1 HG02040.hp1 HG02056.hp2 HG02615.hp2 HG02735.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG03130.hp2 HG03139.hp2 HG03491.hp2 HG03688.hp2 HG04184.hp2 NA18950.hp1 NA18981.hp1 NA18990.hp1 NA19064.hp1 NA19066.hp2 NA19068.hp1 NA19072.hp2 NA19083.hp1 NA19085.hp2 NA19091.hp1 NA19240.hp1 NA21309.hp2	a0001 a0005 a0008 a0001 a0005 a0008	a0001c0001 a0001c0003 a0001c0005 others(4): Show a0001c0001 a0001c0003 a0001c0005 a0001c0008 a0001c0012 a0005c0013 a0008c0020	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0003t0001 a0001c0005t0001 a0001c0008t0001 a0001c0008t0002 a0001c0012t0001 a0005c0013t0002 a0008c0020t0001	a0001c0001t0001g0005 a0001c0001t0001g0082 a0001c0001t0001g0083 others(31): Show a0001c0001t0001g0005 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0175 a0001c0001t0001g0213 a0001c0001t0001g0254 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0005g0306 a0001c0003t0001g0115 a0001c0005t0001g0170 a0001c0008t0001g0155 a0001c0008t0001g0165 a0001c0008t0002g0034 a0001c0012t0001g0124 a0005c0013t0002g0032 a0008c0020t0001g0131	35	108	0.3241	9	c.138 others(26): Show c.1380+456_1380+464dupAAAAAAAAA	SCN3A	ENSG00000153253.20	transcript	ENST00000283254.12	protein_coding	11/27			chr2	TogoVar
SCN8A_chr12_51586233_51817864	51679721	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01109.hp1 HG02056.hp1 others(4): Show HG01099.hp2 HG01109.hp1 HG02056.hp1 HG02074.hp2 HG02145.hp2 HG02965.hp2 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0016t0004	a0001c0001t0002g0024 a0001c0001t0002g0099 a0001c0001t0003g0029 others(4): Show a0001c0001t0002g0024 a0001c0001t0002g0099 a0001c0001t0003g0029 a0001c0001t0004g0100 a0001c0001t0004g0101 a0001c0001t0005g0127 a0001c0016t0004g0181	7	51	0.1373	9	c.277 others(26): Show c.277-4439_277-4431dupTTTTTTTTT	SCN8A	ENSG00000196876.19	transcript	ENST00000354534.11	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
SCN8A_chr12_51586233_51817864	51813933	T T	TTAACGTT others(2): Show TTAACGTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp2 HG02486.hp1 others(2): Show HG02258.hp1 HG02258.hp2 HG02486.hp1 HG02559.hp2 HG03453.hp2	a0001 a0001	a0001c0008 a0001c0009 a0001c0010 others(1): Show a0001c0008 a0001c0009 a0001c0010 a0001c0011	a0001c0008t0001 a0001c0009t0024 a0001c0010t0001 others(1): Show a0001c0008t0001 a0001c0009t0024 a0001c0010t0001 a0001c0011t0025	a0001c0008t0001g0147 a0001c0008t0001g0149 a0001c0009t0024g0112 others(2): Show a0001c0008t0001g0147 a0001c0008t0001g0149 a0001c0009t0024g0112 a0001c0010t0001g0033 a0001c0011t0025g0113	5	200	0.0250	9	c.65 others(20): Show c.6504_*6505insTAACGTTTA	SCN8A	ENSG00000196876.19	transcript	ENST00000354534.11	protein_coding		1070		chr12	TogoVar
SCN9A_chr2_166190185_166380944	166199975	G G	GTTTTTTT others(2): Show GTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01891.hp1 HG02109.hp1 others(4): Show HG01081.hp1 HG01891.hp1 HG02109.hp1 HG03831.hp1 NA18960.hp1 NA18970.hp2 NA18981.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0012 a0001c0063 a0004c0024	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0005t0002 a0001c0012t0014 a0001c0063t0029 a0004c0024t0016	a0001c0001t0001g0052 a0001c0002t0001g0280 a0001c0003t0001g0279 others(4): Show a0001c0001t0001g0052 a0001c0002t0001g0280 a0001c0003t0001g0279 a0001c0005t0002g0074 a0001c0012t0014g0006 a0001c0063t0029g0049 a0004c0024t0016g0020	7	26	0.2692	9	c.477 others(26): Show c.4775-120_4775-112dupAAAAAAAAA	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	26/26			chr2	TogoVar
SCN9A_chr2_166190185_166380944	166207428	T T	TTTGTTGT others(2): Show TTTGTTGTTG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03225.hp1 HG03453.hp2 others(4): Show HG03041.hp2 HG03225.hp1 HG03453.hp2 HG03831.hp1 HG03927.hp1 NA18984.hp1 NA19240.hp2	a0001 a0015 a0023 a0001 a0015 a0023	a0001c0003 a0001c0004 a0001c0063 others(3): Show a0001c0003 a0001c0004 a0001c0063 a0015c0035 a0015c0045 a0023c0037	a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 others(4): Show a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0063t0029 a0015c0035t0005 a0015c0045t0005 a0023c0037t0001	a0001c0003t0001g0219 a0001c0003t0002g0079 a0001c0004t0001g0137 others(4): Show a0001c0003t0001g0219 a0001c0003t0002g0079 a0001c0004t0001g0137 a0001c0063t0029g0049 a0015c0035t0005g0292 a0015c0045t0005g0197 a0023c0037t0001g0239	7	51	0.1373	9	c.439 others(28): Show c.4399-2973_4399-2965dupCAACAACAA	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	24/26			chr2	TogoVar
SCN9A_chr2_166190185_166380944	166213459	C C	CAATAATA others(2): Show CAATAATAAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00609.hp1 HG00609.hp2 others(40): Show HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01928.hp2 HG01934.hp1 HG01978.hp2 HG01981.hp2 HG02015.hp2 HG02074.hp1 HG02109.hp1 HG02129.hp1 HG02145.hp1 HG02895.hp2 HG03017.hp2 HG03041.hp2 HG03453.hp1 HG03942.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18979.hp1 NA18983.hp1 NA18988.hp2 NA18993.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19007.hp1 NA19011.hp2 NA19063.hp2 NA19066.hp2 NA19086.hp1 NA19240.hp2 NA20752.hp2	a0001 a0003 a0004 others(5): Show a0001 a0003 a0004 a0005 a0015 a0019 a0026 a0028	a0001c0001 a0001c0002 a0001c0003 others(16): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0012 a0003c0013 a0003c0014 a0003c0064 a0004c0008 a0004c0024 a0004c0038 a0005c0016 a0015c0035 a0015c0045 a0019c0039 a0026c0042 a0028c0069	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0002t0016 a0001c0003t0001 a0001c0003t0002 a0001c0003t0010 a0001c0003t0015 a0001c0004t0002 a0001c0005t0001 a0001c0005t0002 a0001c0006t0001 a0001c0012t0002 a0003c0013t0003 a0003c0014t0003 a0003c0064t0003 a0004c0008t0022 a0004c0024t0016 a0004c0038t0009 a0005c0016t0003 a0015c0035t0005 a0015c0045t0005 a0019c0039t0003 a0026c0042t0001 a0028c0069t0002	a0001c0001t0001g0071 a0001c0001t0001g0143 a0001c0001t0002g0038 others(40): Show a0001c0001t0001g0071 a0001c0001t0001g0143 a0001c0001t0002g0038 a0001c0001t0002g0064 a0001c0001t0002g0084 a0001c0001t0002g0154 a0001c0001t0002g0157 a0001c0001t0002g0165 a0001c0002t0001g0175 a0001c0002t0001g0235 a0001c0002t0002g0075 a0001c0002t0002g0116 a0001c0002t0002g0131 a0001c0002t0002g0135 a0001c0002t0010g0007 a0001c0002t0016g0199 a0001c0003t0001g0213 a0001c0003t0002g0057 a0001c0003t0002g0242 a0001c0003t0002g0265 a0001c0003t0010g0004 a0001c0003t0015g0063 a0001c0004t0002g0056 a0001c0005t0001g0070 a0001c0005t0001g0106 a0001c0005t0001g0153 a0001c0005t0002g0145 a0001c0005t0002g0146 a0001c0006t0001g0150 a0001c0012t0002g0178 a0003c0013t0003g0216 a0003c0014t0003g0085 a0003c0064t0003g0039 a0004c0008t0022g0010 a0004c0024t0016g0020 a0004c0038t0009g0281 a0005c0016t0003g0214 a0005c0016t0003g0221 a0015c0035t0005g0292 a0015c0045t0005g0197 a0019c0039t0003g0268 a0026c0042t0001g0226 a0028c0069t0002g0118	43	153	0.2810	9	c.439 others(28): Show c.4399-9004_4399-8996dupATTATTATT	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	24/26			chr2	TogoVar
SCN9A_chr2_166190185_166380944	166370220	A A	AATCATCA others(2): Show AATCATCATC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02922.hp2 HG03516.hp2 others(4): Show HG01255.hp2 HG02922.hp2 HG03516.hp2 HG03942.hp2 HG04184.hp1 HG04228.hp2 NA18939.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0003 a0001c0005 a0001c0011 others(4): Show a0001c0003 a0001c0005 a0001c0011 a0001c0026 a0002c0009 a0002c0067 a0007c0019	a0001c0003t0001 a0001c0005t0001 a0001c0011t0009 others(4): Show a0001c0003t0001 a0001c0005t0001 a0001c0011t0009 a0001c0026t0008 a0002c0009t0004 a0002c0067t0007 a0007c0019t0004	a0001c0003t0001g0278 a0001c0005t0001g0026 a0001c0011t0009g0027 others(4): Show a0001c0003t0001g0278 a0001c0005t0001g0026 a0001c0011t0009g0027 a0001c0026t0008g0267 a0002c0009t0004g0282 a0002c0067t0007g0028 a0007c0019t0004g0251	7	214	0.0327	9	c.-51 others(26): Show c.-51+5476_-51+5477insGATGATGAT	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	1/26			chr2	TogoVar
SCN9A_chr2_166190185_166380944	166370223	A A	AATCATCA others(2): Show AATCATCATC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02004.hp2 HG02129.hp1 others(3): Show HG01243.hp2 HG02004.hp2 HG02129.hp1 HG02602.hp2 HG02698.hp1 NA18981.hp1	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0019	a0001c0002 a0001c0003 a0002c0009 others(2): Show a0001c0002 a0001c0003 a0002c0009 a0007c0019 a0019c0039	a0001c0002t0028 a0001c0003t0001 a0001c0003t0002 others(3): Show a0001c0002t0028 a0001c0003t0001 a0001c0003t0002 a0002c0009t0004 a0007c0019t0004 a0019c0039t0003	a0001c0002t0028g0253 a0001c0003t0001g0279 a0001c0003t0002g0284 others(3): Show a0001c0002t0028g0253 a0001c0003t0001g0279 a0001c0003t0002g0284 a0002c0009t0004g0283 a0007c0019t0004g0252 a0019c0039t0003g0268	6	182	0.0330	9	c.-51 others(26): Show c.-51+5473_-51+5474insGATGATGAT	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	1/26			chr2	TogoVar
SCN9A_chr2_166190185_166380944	166370226	A A	AATCATCA others(2): Show AATCATCATC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp2 HG01099.hp2 others(2): Show HG00738.hp1 HG00741.hp2 HG01099.hp2 HG01891.hp2 NA19240.hp2	a0001 a0002 a0015 a0001 a0002 a0015	a0001c0002 a0001c0003 a0002c0009 others(1): Show a0001c0002 a0001c0003 a0002c0009 a0015c0045	a0001c0002t0001 a0001c0003t0001 a0002c0009t0004 others(1): Show a0001c0002t0001 a0001c0003t0001 a0002c0009t0004 a0015c0045t0005	a0001c0002t0001g0196 a0001c0003t0001g0254 a0001c0003t0001g0286 others(2): Show a0001c0002t0001g0196 a0001c0003t0001g0254 a0001c0003t0001g0286 a0002c0009t0004g0285 a0015c0045t0005g0197	5	128	0.0391	9	c.-51 others(26): Show c.-51+5470_-51+5471insGATGATGAT	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	1/26			chr2	TogoVar
SCN9A_chr2_166190185_166380944	166370229	A A	AATCATCA others(2): Show AATCATCATC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03130.hp2 HG03471.hp1 others(4): Show HG03041.hp1 HG03130.hp2 HG03471.hp1 HG03471.hp2 HG03579.hp2 NA18906.hp1 NA18973.hp2	a0001 a0004 a0007 others(1): Show a0001 a0004 a0007 a0014	a0001c0002 a0001c0003 a0004c0024 others(2): Show a0001c0002 a0001c0003 a0004c0024 a0007c0019 a0014c0031	a0001c0002t0001 a0001c0003t0010 a0004c0024t0002 others(3): Show a0001c0002t0001 a0001c0003t0010 a0004c0024t0002 a0004c0024t0011 a0007c0019t0004 a0014c0031t0006	a0001c0002t0001g0201 a0001c0003t0010g0003 a0004c0024t0002g0193 others(4): Show a0001c0002t0001g0201 a0001c0003t0010g0003 a0004c0024t0002g0193 a0004c0024t0011g0190 a0007c0019t0004g0200 a0014c0031t0006g0191 a0014c0031t0006g0192	7	63	0.1111	9	c.-51 others(26): Show c.-51+5467_-51+5468insGATGATGAT	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	1/26			chr2	TogoVar
SCNN1B_chr16_23297302_23386294	23301359	C C	CAAAAAAA others(2): Show CAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01884.hp1 HG02280.hp1 others(4): Show HG01109.hp1 HG01884.hp1 HG02280.hp1 HG02572.hp2 HG02717.hp2 HG03195.hp1 HG03486.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0004 a0003c0005 a0001c0001 a0002c0004 a0003c0005	a0001c0001t0001 a0002c0004t0001 a0003c0005t0001 a0001c0001t0001 a0002c0004t0001 a0003c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0070 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0002c0004t0001g0005 a0003c0005t0001g0004	7	139	0.0504	9	c.-10 others(20): Show c.-1087_-1086insAAAAAAAAA	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding		942		chr16	TogoVar
SCNN1B_chr16_23297302_23386294	23374268	G G	GAAAAAAA others(2): Show GAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00639.hp2 HG00735.hp1 others(24): Show HG00544.hp2 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01099.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01993.hp1 HG01993.hp2 HG02055.hp1 HG02135.hp2 HG02257.hp2 HG02738.hp1 HG02738.hp2 HG03579.hp2 HG04184.hp2 NA18953.hp1 NA18968.hp1 NA19000.hp1 NA19000.hp2 NA19063.hp1 NA19068.hp2 NA19085.hp2 NA19086.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0002t0001 a0002c0004t0001 a0001c0001t0001 a0001c0002t0001 a0002c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0009 others(24): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0043 a0001c0001t0001g0051 a0001c0001t0001g0088 a0001c0001t0001g0092 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0136 a0001c0001t0001g0155 a0001c0001t0001g0172 a0001c0001t0001g0186 a0001c0001t0001g0200 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0242 a0001c0001t0001g0249 a0001c0001t0001g0254 a0001c0001t0001g0275 a0001c0001t0001g0286 a0001c0002t0001g0154 a0001c0002t0001g0190 a0001c0002t0001g0208 a0001c0002t0001g0219 a0002c0004t0001g0059	27	109	0.2477	9	c.115 others(28): Show c.1153-1457_1153-1449dupAAAAAAAAA	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCP2_chr1_52922276_53056698	52934592	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02630.hp2 HG03516.hp1 others(4): Show HG02148.hp1 HG02630.hp2 HG03516.hp1 NA18965.hp1 NA18965.hp2 NA18973.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0001c0004t0001 a0001c0007t0003	a0001c0001t0001g0042 a0001c0001t0001g0220 a0001c0001t0003g0247 others(4): Show a0001c0001t0001g0042 a0001c0001t0001g0220 a0001c0001t0003g0247 a0001c0001t0003g0249 a0001c0003t0001g0246 a0001c0004t0001g0144 a0001c0007t0003g0248	7	21	0.3333	9	c.69+ others(24): Show c.69+7157_69+7165dupTTTTTTTTT	SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCP2_chr1_52922276_53056698	52999815	G G	GTTTTTTT others(2): Show GTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02886.hp2 HG02895.hp1 others(3): Show HG02559.hp2 HG02886.hp2 HG02895.hp1 HG02970.hp1 HG03209.hp2 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0003 a0001c0001t0003 a0001c0002t0003	a0001c0001t0003g0185 a0001c0001t0003g0187 a0001c0001t0003g0188 others(3): Show a0001c0001t0003g0185 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0232 a0001c0002t0003g0139 a0001c0002t0003g0143	6	119	0.0504	9	c.108 others(30): Show c.1081+11690_1081+11698dupTTTTTTTTT	SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCP2_chr1_52922276_53056698	53037922	A A	ACACACAC others(2): Show ACACACACAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02896.hp1 HG03927.hp2 others(3): Show HG01243.hp1 HG02896.hp1 HG03927.hp2 NA18989.hp1 NA19005.hp1 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0001 a0001c0003t0004 a0001c0004t0004 a0001c0003t0001 a0001c0003t0004 a0001c0004t0004	a0001c0003t0001g0005 a0001c0003t0001g0008 a0001c0003t0001g0009 others(3): Show a0001c0003t0001g0005 a0001c0003t0001g0008 a0001c0003t0001g0009 a0001c0003t0001g0085 a0001c0003t0004g0131 a0001c0004t0004g0140	6	244	0.0246	9	c.133 others(26): Show c.1339-987_1339-986insCCACACACA	SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCTR_chr2_119434843_119529483	119523392	C C	CTATTATT others(2): Show CTATTATTAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02602.hp1 HG02723.hp1 others(4): Show HG02451.hp2 HG02602.hp1 HG02723.hp1 HG03490.hp1 NA19077.hp1 NA19240.hp2 NA21309.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0012c0014 a0001c0001 a0012c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0012c0014t0002	a0001c0001t0001g0138 a0001c0001t0001g0270 a0001c0001t0002g0126 others(4): Show a0001c0001t0001g0138 a0001c0001t0001g0270 a0001c0001t0002g0126 a0001c0001t0002g0237 a0001c0001t0003g0024 a0001c0001t0003g0044 a0012c0014t0002g0261	7	140	0.0500	9	c.72+ others(22): Show c.72+754_72+762dupATAATAATA	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	1/12			chr2	TogoVar
SCUBE1_chr22_43192280_43348372	43273561	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00741.hp1 others(13): Show HG00140.hp1 HG00140.hp2 HG00741.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01346.hp1 HG01346.hp2 HG02015.hp2 HG02257.hp2 HG03486.hp1 HG03669.hp1 HG03688.hp2 HG04199.hp1 HG04199.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0003 a0001c0004 a0001c0008 others(7): Show a0001c0003 a0001c0004 a0001c0008 a0001c0012 a0001c0038 a0001c0040 a0001c0054 a0002c0005 a0003c0001 a0004c0048	a0001c0003t0003 a0001c0003t0006 a0001c0004t0037 others(8): Show a0001c0003t0003 a0001c0003t0006 a0001c0004t0037 a0001c0008t0009 a0001c0012t0056 a0001c0038t0059 a0001c0040t0065 a0001c0054t0028 a0002c0005t0001 a0003c0001t0001 a0004c0048t0066	a0001c0003t0003g0085 a0001c0003t0003g0140 a0001c0003t0006g0159 others(13): Show a0001c0003t0003g0085 a0001c0003t0003g0140 a0001c0003t0006g0159 a0001c0004t0037g0106 a0001c0008t0009g0247 a0001c0012t0056g0125 a0001c0038t0059g0128 a0001c0040t0065g0150 a0001c0054t0028g0017 a0002c0005t0001g0139 a0002c0005t0001g0188 a0003c0001t0001g0031 a0003c0001t0001g0171 a0003c0001t0001g0198 a0003c0001t0001g0205 a0004c0048t0066g0241	16	60	0.2667	9	c.485 others(28): Show c.485-10725_485-10717dupAAAAAAAAA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE2_chr11_9014476_9096599	9090489	A A	ATTTATTT others(2): Show ATTTATTTAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01255.hp2 others(26): Show HG01069.hp2 HG01071.hp1 HG01255.hp2 HG01978.hp2 HG02071.hp1 HG02129.hp2 HG02148.hp1 HG02293.hp1 HG06807.hp2 NA18943.hp2 NA18948.hp2 NA18949.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp2 NA18968.hp1 NA18970.hp1 NA18985.hp1 NA19006.hp2 NA19009.hp1 NA19057.hp2 NA19065.hp2 NA19066.hp2 NA19074.hp1 NA19078.hp1 NA19085.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0009	a0001c0002 a0001c0005 a0002c0001 others(3): Show a0001c0002 a0001c0005 a0002c0001 a0004c0004 a0005c0007 a0009c0017	a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 others(10): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0005t0009 a0002c0001t0003 a0002c0001t0004 a0002c0001t0008 a0002c0001t0012 a0004c0004t0004 a0004c0004t0007 a0005c0007t0011 a0005c0007t0018 a0009c0017t0004	a0001c0002t0001g0027 a0001c0002t0001g0032 a0001c0002t0002g0026 others(25): Show a0001c0002t0001g0027 a0001c0002t0001g0032 a0001c0002t0002g0026 a0001c0002t0002g0031 a0001c0002t0002g0033 a0001c0002t0002g0034 a0001c0002t0002g0114 a0001c0002t0010g0028 a0001c0005t0009g0025 a0001c0005t0009g0029 a0001c0005t0009g0030 a0002c0001t0003g0238 a0002c0001t0003g0239 a0002c0001t0003g0241 a0002c0001t0003g0244 a0002c0001t0003g0245 a0002c0001t0003g0246 a0002c0001t0003g0306 a0002c0001t0004g0248 a0002c0001t0008g0007 a0002c0001t0012g0240 a0004c0004t0004g0249 a0004c0004t0007g0236 a0004c0004t0007g0237 a0004c0004t0007g0242 a0005c0007t0011g0305 a0005c0007t0018g0247 a0009c0017t0004g0243	29	267	0.1086	9	c.134 others(24): Show c.134-661_134-660insATAAATAAA	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	1/22			chr11	TogoVar

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