Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
EPM2A_chr6_145620305_145740520	145631871	TCACACA TCACACA	T T	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02155.hp1 HG02615.hp1 others(4): Show HG02135.hp2 HG02155.hp1 HG02615.hp1 NA18963.hp2 NA19002.hp2 NA19003.hp1 NA19081.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0002 a0002c0004t0005 a0002c0004t0011 a0001c0002t0002 a0002c0004t0005 a0002c0004t0011	a0001c0002t0002g0144 a0002c0004t0005g0049 a0002c0004t0005g0051 others(4): Show a0001c0002t0002g0144 a0002c0004t0005g0049 a0002c0004t0005g0051 a0002c0004t0005g0052 a0002c0004t0005g0053 a0002c0004t0005g0054 a0002c0004t0011g0050	7	320	0.0219	-6	c.718 others(23): Show c.718+3368_718+3373delTGTGTG		EPM2A	ENSG00000112425.16	transcript	ENST00000367519.9	protein_coding	3/3						chr6	TogoVar
EPM2A_chr6_145620305_145740520	145647700	AAAGGGG AAAGGGG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01257.hp2 HG02559.hp1 others(2): Show HG00642.hp1 HG01257.hp2 HG02559.hp1 HG03239.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0002t0002 a0001c0003t0001 a0001c0001t0003 a0001c0002t0002 a0001c0003t0001	a0001c0001t0003g0029 a0001c0002t0002g0116 a0001c0003t0001g0227 others(2): Show a0001c0001t0003g0029 a0001c0002t0002g0116 a0001c0003t0001g0227 a0001c0003t0001g0228 a0001c0003t0001g0254	5	320	0.0156	-6	c.477 others(25): Show c.477-12220_477-12215delCCCCTT		EPM2A	ENSG00000112425.16	transcript	ENST00000367519.9	protein_coding	2/3						chr6	TogoVar
EPM2A_chr6_145620305_145740520	145696775	ATGTGTG ATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00558.hp2 HG00639.hp2 others(44): Show HG00280.hp2 HG00558.hp2 HG00639.hp2 HG00642.hp2 HG00741.hp2 HG01074.hp1 HG01099.hp2 HG01109.hp2 HG01169.hp2 HG01192.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG02129.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02895.hp2 HG02896.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG06807.hp2 NA18747.hp1 NA18944.hp2 NA18948.hp1 NA18951.hp1 NA18965.hp2 NA18979.hp2 NA18984.hp2 NA18990.hp1 NA19030.hp1 NA19043.hp2 NA19082.hp1 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp2	a0001 a0005 a0009 a0001 a0005 a0009	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0005c0009 a0009c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0002t0002 a0001c0003t0001 a0005c0009t0002 a0009c0007t0015	a0001c0001t0001g0014 a0001c0001t0001g0154 a0001c0001t0001g0158 others(40): Show a0001c0001t0001g0014 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0001g0185 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0207 a0001c0001t0001g0212 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0259 a0001c0001t0001g0272 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0007g0183 a0001c0001t0007g0184 a0001c0002t0002g0008 a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0060 a0001c0002t0002g0066 a0001c0002t0002g0068 a0001c0002t0002g0090 a0001c0002t0002g0125 a0001c0002t0002g0126 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0002g0137 a0001c0002t0002g0138 a0001c0002t0002g0141 a0001c0002t0002g0142 a0001c0003t0001g0231 a0005c0009t0002g0139 a0009c0007t0015g0048	47	320	0.1469	-6	c.302 others(25): Show c.302-10485_302-10480delCACACA		EPM2A	ENSG00000112425.16	transcript	ENST00000367519.9	protein_coding	1/3						chr6	TogoVar
EPM2A_chr6_145620305_145740520	145732232	TGTGTGC TGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00741.hp2 HG01074.hp1 others(20): Show HG00735.hp2 HG00741.hp2 HG01074.hp1 HG01109.hp2 HG01192.hp1 HG01515.hp1 HG01517.hp1 HG01884.hp2 HG02683.hp2 HG03669.hp1 HG03704.hp1 HG03927.hp1 HG04199.hp1 HG04204.hp2 NA18948.hp1 NA18982.hp2 NA19082.hp1 NA19084.hp2 NA19088.hp1 NA19091.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0005c0009 a0001c0002 a0005c0009	a0001c0002t0002 a0005c0009t0002 a0001c0002t0002 a0005c0009t0002	a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0059 others(18): Show a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0059 a0001c0002t0002g0125 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0002g0129 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0002g0133 a0001c0002t0002g0134 a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0002t0002g0138 a0001c0002t0002g0140 a0001c0002t0002g0141 a0001c0002t0002g0146 a0005c0009t0002g0139	23	320	0.0719	-6	c.301 others(23): Show c.301+2960_301+2965delGCACAC		EPM2A	ENSG00000112425.16	transcript	ENST00000367519.9	protein_coding	1/3						chr6	TogoVar
EPM2A_chr6_145620305_145740520	145732409	CACATAT CACATAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp1 HG00438.hp2 others(139): Show HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01099.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01255.hp1 HG01257.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp2 HG02735.hp1 HG02809.hp2 HG02965.hp1 HG03017.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03669.hp2 HG03834.hp1 HG04115.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp2 NA18956.hp1 NA18959.hp1 NA18960.hp2 NA18963.hp1 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18968.hp2 NA18970.hp1 NA18973.hp2 NA18977.hp2 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18988.hp2 NA18990.hp1 NA18998.hp2 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19003.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19056.hp2 NA19058.hp1 NA19060.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp2 NA19072.hp2 NA19076.hp1 NA19077.hp2 NA19079.hp2 NA19082.hp2 NA19087.hp2 NA19088.hp2 NA19091.hp1 NA20752.hp2 NA20905.hp1	a0001 a0008 a0009 a0001 a0008 a0009	a0001c0001 a0001c0003 a0008c0012 others(1): Show a0001c0001 a0001c0003 a0008c0012 a0009c0007	a0001c0001t0001 a0001c0001t0007 a0001c0001t0010 others(4): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0010 a0001c0001t0014 a0001c0003t0001 a0008c0012t0001 a0009c0007t0015	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 others(132): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0007g0183 a0001c0001t0007g0184 a0001c0001t0007g0186 a0001c0001t0010g0178 a0001c0001t0010g0180 a0001c0001t0014g0215 a0001c0003t0001g0016 a0001c0003t0001g0222 a0001c0003t0001g0224 a0001c0003t0001g0227 a0001c0003t0001g0228 a0001c0003t0001g0229 a0001c0003t0001g0230 a0001c0003t0001g0231 a0001c0003t0001g0234 a0001c0003t0001g0235 a0001c0003t0001g0249 a0001c0003t0001g0250 a0001c0003t0001g0251 a0001c0003t0001g0252 a0001c0003t0001g0254 a0001c0003t0001g0276 a0008c0012t0001g0296 a0009c0007t0015g0048	142	320	0.4438	-6	c.301 others(23): Show c.301+2783_301+2788delATATGT		EPM2A	ENSG00000112425.16	transcript	ENST00000367519.9	protein_coding	1/3						chr6	TogoVar
EPOP_chr17_38666703_38679957	38676561	TACACAC TACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG02647.hp2 HG02809.hp1 others(7): Show HG00741.hp2 HG02647.hp2 HG02809.hp1 HG02922.hp1 HG02965.hp2 HG03471.hp1 HG03540.hp2 HG03579.hp2 NA19043.hp2 NA19240.hp2	a0003 a0011 a0003 a0011	a0003c0003 a0011c0013 a0003c0003 a0011c0013	a0003c0003t0001 a0011c0013t0001 a0003c0003t0001 a0011c0013t0001	a0003c0003t0001g0000 a0011c0013t0001g0000 a0003c0003t0001g0000 a0011c0013t0001g0000	10	351	0.0285	-6	c.-20 others(17): Show c.-2072_-2067delGTGTGT		EPOP	ENSG00000273604.2	transcript	ENST00000621654.2	protein_coding					1605		chr17	TogoVar
EPPK1_chr8_143852324_143883467	143859323	CCGGCCT CCGGCCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(207): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01952.hp2 HG01981.hp1 HG02004.hp1 HG02055.hp1 HG02074.hp1 HG02109.hp1 HG02129.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18943.hp2 NA18945.hp2 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18957.hp1 NA18960.hp1 NA18963.hp1 NA18963.hp2 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18974.hp1 NA18975.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18990.hp1 NA18991.hp2 NA18995.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp2 NA19007.hp2 NA19009.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19058.hp1 NA19064.hp1 NA19065.hp1 NA19074.hp2 NA19076.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp2 NA20129.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0003 a0007 a0008 others(159): Show a0003 a0007 a0008 a0009 a0010 a0011 a0014 a0015 a0017 a0018 a0021 a0022 a0023 a0025 a0026 a0029 a0030 a0033 a0037 a0038 a0039 a0041 a0042 a0043 a0044 a0045 a0046 a0047 a0049 a0051 a0053 a0055 a0061 a0062 a0068 a0069 a0070 a0072 a0073 a0075 a0076 a0079 a0080 a0081 a0082 a0089 a0090 a0091 a0092 a0093 a0094 a0096 a0097 a0098 a0100 a0104 a0105 a0106 a0107 a0108 a0109 a0114 a0115 a0116 a0120 a0121 a0122 a0123 a0124 a0128 a0129 a0130 a0132 a0133 a0141 a0153 a0154 a0157 a0158 a0159 a0162 a0163 a0164 a0165 a0166 a0175 a0187 a0194 a0202 a0206 a0207 a0208 a0210 a0211 a0215 a0216 a0217 a0218 a0219 a0222 a0223 a0224 a0225 a0228 a0230 a0231 a0232 a0233 a0235 a0236 a0238 a0239 a0240 a0241 a0242 a0243 a0244 a0246 a0247 a0248 a0253 a0254 a0255 a0256 a0257 a0258 a0259 a0260 a0261 a0262 a0263 a0264 a0265 a0266 a0267 a0269 a0272 a0273 a0274 a0275 a0276 a0277 a0278 a0279 a0280 a0281 a0282 a0283 a0284 a0285 a0286 a0288 a0289 a0290 a0291 a0292 a0293 a0302 a0303 a0304 a0305 a0306	a0003c0008 a0003c0030 a0003c0031 others(179): Show a0003c0008 a0003c0030 a0003c0031 a0007c0013 a0007c0273 a0008c0017 a0008c0021 a0009c0174 a0009c0178 a0009c0187 a0010c0015 a0010c0050 a0011c0007 a0014c0044 a0014c0280 a0015c0041 a0015c0316 a0017c0012 a0018c0034 a0018c0206 a0021c0006 a0022c0024 a0022c0094 a0023c0095 a0023c0096 a0023c0102 a0025c0161 a0025c0162 a0026c0185 a0026c0186 a0029c0040 a0030c0257 a0030c0258 a0033c0213 a0033c0268 a0037c0075 a0037c0143 a0038c0019 a0039c0023 a0041c0022 a0042c0088 a0042c0092 a0043c0085 a0043c0089 a0044c0020 a0045c0027 a0046c0026 a0047c0025 a0049c0028 a0051c0345 a0053c0144 a0055c0341 a0061c0157 a0062c0156 a0068c0146 a0069c0151 a0070c0145 a0072c0160 a0073c0339 a0075c0199 a0076c0198 a0079c0342 a0080c0195 a0081c0194 a0082c0193 a0089c0183 a0090c0184 a0091c0180 a0092c0182 a0093c0176 a0094c0181 a0096c0197 a0097c0330 a0098c0055 a0100c0049 a0104c0167 a0105c0338 a0106c0164 a0107c0166 a0108c0165 a0109c0163 a0114c0173 a0115c0172 a0116c0171 a0120c0332 a0121c0333 a0122c0334 a0123c0331 a0124c0327 a0128c0277 a0129c0311 a0130c0283 a0132c0286 a0133c0310 a0141c0301 a0153c0279 a0154c0291 a0157c0278 a0158c0289 a0159c0288 a0162c0284 a0163c0313 a0164c0276 a0165c0207 a0166c0212 a0175c0324 a0187c0240 a0194c0230 a0202c0218 a0206c0221 a0207c0219 a0208c0220 a0210c0263 a0211c0262 a0215c0269 a0216c0264 a0217c0267 a0218c0266 a0219c0265 a0222c0205 a0223c0325 a0224c0204 a0225c0315 a0228c0328 a0230c0337 a0231c0343 a0232c0057 a0233c0142 a0235c0068 a0236c0067 a0238c0077 a0239c0076 a0240c0078 a0241c0079 a0242c0116 a0243c0115 a0244c0111 a0246c0113 a0247c0112 a0248c0109 a0253c0080 a0254c0081 a0255c0141 a0256c0082 a0257c0083 a0258c0106 a0259c0097 a0260c0103 a0261c0105 a0262c0104 a0263c0100 a0264c0099 a0265c0101 a0266c0098 a0267c0137 a0269c0123 a0272c0091 a0273c0090 a0274c0135 a0275c0120 a0276c0133 a0277c0121 a0278c0074 a0279c0087 a0280c0134 a0281c0132 a0282c0140 a0283c0130 a0284c0131 a0285c0124 a0286c0061 a0288c0086 a0289c0126 a0290c0128 a0291c0127 a0292c0125 a0293c0136 a0302c0066 a0303c0062 a0304c0064 a0305c0063 a0306c0058	a0003c0008t0003 a0003c0030t0003 a0003c0031t0003 others(188): Show a0003c0008t0003 a0003c0030t0003 a0003c0031t0003 a0003c0031t0024 a0007c0013t0002 a0007c0013t0006 a0007c0013t0012 a0007c0273t0002 a0008c0017t0002 a0008c0021t0002 a0009c0174t0014 a0009c0178t0014 a0009c0187t0014 a0010c0015t0001 a0010c0050t0001 a0011c0007t0001 a0014c0044t0002 a0014c0280t0006 a0015c0041t0003 a0015c0041t0013 a0015c0316t0003 a0017c0012t0001 a0018c0034t0001 a0018c0206t0001 a0021c0006t0002 a0021c0006t0007 a0022c0024t0002 a0022c0094t0006 a0023c0095t0002 a0023c0096t0002 a0023c0102t0002 a0025c0161t0001 a0025c0162t0001 a0026c0185t0002 a0026c0186t0002 a0029c0040t0001 a0029c0040t0004 a0030c0257t0002 a0030c0258t0002 a0033c0213t0002 a0033c0268t0006 a0037c0075t0002 a0037c0143t0002 a0038c0019t0002 a0038c0019t0012 a0039c0023t0002 a0039c0023t0007 a0041c0022t0002 a0042c0088t0002 a0042c0092t0002 a0043c0085t0026 a0043c0089t0002 a0044c0020t0002 a0045c0027t0002 a0045c0027t0006 a0046c0026t0002 a0047c0025t0002 a0049c0028t0002 a0051c0345t0002 a0053c0144t0002 a0055c0341t0016 a0061c0157t0004 a0062c0156t0004 a0068c0146t0003 a0069c0151t0004 a0070c0145t0001 a0072c0160t0009 a0073c0339t0009 a0075c0199t0003 a0076c0198t0003 a0079c0342t0003 a0080c0195t0003 a0081c0194t0003 a0082c0193t0003 a0089c0183t0002 a0090c0184t0007 a0091c0180t0002 a0092c0182t0013 a0093c0176t0007 a0094c0181t0007 a0096c0197t0002 a0097c0330t0004 a0098c0055t0009 a0100c0049t0010 a0104c0167t0001 a0105c0338t0007 a0106c0164t0009 a0107c0166t0009 a0108c0165t0009 a0109c0163t0009 a0114c0173t0001 a0115c0172t0001 a0116c0171t0009 a0120c0332t0003 a0121c0333t0004 a0122c0334t0003 a0123c0331t0004 a0124c0327t0005 a0128c0277t0022 a0129c0311t0013 a0130c0283t0006 a0132c0286t0004 a0133c0310t0003 a0141c0301t0001 a0153c0279t0002 a0154c0291t0002 a0157c0278t0002 a0158c0289t0002 a0159c0288t0023 a0162c0284t0002 a0163c0313t0002 a0164c0276t0006 a0165c0207t0002 a0166c0212t0003 a0175c0324t0001 a0187c0240t0001 a0194c0230t0021 a0202c0218t0002 a0206c0221t0002 a0207c0219t0006 a0208c0220t0002 a0210c0263t0002 a0211c0262t0002 a0215c0269t0002 a0216c0264t0002 a0217c0267t0002 a0218c0266t0002 a0219c0265t0002 a0222c0205t0002 a0223c0325t0016 a0224c0204t0005 a0225c0315t0003 a0228c0328t0003 a0230c0337t0002 a0231c0343t0001 a0232c0057t0002 a0233c0142t0002 a0235c0068t0002 a0236c0067t0002 a0238c0077t0002 a0239c0076t0002 a0240c0078t0002 a0241c0079t0002 a0242c0116t0003 a0243c0115t0013 a0244c0111t0002 a0246c0113t0002 a0247c0112t0001 a0248c0109t0005 a0253c0080t0007 a0254c0081t0002 a0255c0141t0002 a0256c0082t0002 a0257c0083t0002 a0258c0106t0002 a0259c0097t0002 a0260c0103t0002 a0261c0105t0002 a0262c0104t0002 a0263c0100t0002 a0264c0099t0007 a0265c0101t0025 a0266c0098t0002 a0267c0137t0003 a0269c0123t0002 a0272c0091t0002 a0273c0090t0007 a0274c0135t0007 a0275c0120t0002 a0276c0133t0007 a0277c0121t0002 a0278c0074t0002 a0279c0087t0002 a0280c0134t0006 a0281c0132t0002 a0282c0140t0002 a0283c0130t0002 a0284c0131t0002 a0285c0124t0007 a0286c0061t0002 a0288c0086t0002 a0289c0126t0002 a0290c0128t0001 a0291c0127t0002 a0292c0125t0002 a0293c0136t0002 a0302c0066t0002 a0303c0062t0006 a0304c0064t0006 a0305c0063t0006 a0306c0058t0002	a0003c0008t0003g0027 a0003c0008t0003g0360 a0003c0030t0003g0010 others(194): Show a0003c0008t0003g0027 a0003c0008t0003g0360 a0003c0030t0003g0010 a0003c0031t0003g0369 a0003c0031t0024g0368 a0007c0013t0002g0134 a0007c0013t0006g0133 a0007c0013t0012g0132 a0007c0273t0002g0131 a0008c0017t0002g0014 a0008c0021t0002g0015 a0009c0174t0014g0357 a0009c0178t0014g0350 a0009c0187t0014g0229 a0010c0015t0001g0202 a0010c0015t0001g0203 a0010c0050t0001g0204 a0011c0007t0001g0005 a0014c0044t0002g0018 a0014c0280t0006g0379 a0015c0041t0003g0140 a0015c0041t0013g0097 a0015c0316t0003g0227 a0017c0012t0001g0065 a0017c0012t0001g0066 a0017c0012t0001g0104 a0018c0034t0001g0012 a0018c0206t0001g0115 a0021c0006t0002g0028 a0021c0006t0007g0037 a0022c0024t0002g0153 a0022c0024t0002g0169 a0022c0094t0006g0152 a0023c0095t0002g0294 a0023c0096t0002g0318 a0023c0102t0002g0342 a0025c0161t0001g0196 a0025c0162t0001g0033 a0026c0185t0002g0354 a0026c0186t0002g0355 a0029c0040t0001g0060 a0029c0040t0004g0056 a0030c0257t0002g0243 a0030c0258t0002g0244 a0033c0213t0002g0118 a0033c0268t0006g0077 a0037c0075t0002g0316 a0037c0143t0002g0384 a0038c0019t0002g0245 a0038c0019t0012g0163 a0039c0023t0002g0278 a0039c0023t0007g0346 a0041c0022t0002g0023 a0042c0088t0002g0371 a0042c0092t0002g0377 a0043c0085t0026g0165 a0043c0089t0002g0042 a0044c0020t0002g0020 a0045c0027t0002g0363 a0045c0027t0006g0362 a0046c0026t0002g0302 a0046c0026t0002g0347 a0047c0025t0002g0024 a0049c0028t0002g0016 a0051c0345t0002g0280 a0053c0144t0002g0349 a0055c0341t0016g0255 a0061c0157t0004g0237 a0062c0156t0004g0241 a0068c0146t0003g0213 a0069c0151t0004g0052 a0070c0145t0001g0236 a0072c0160t0009g0036 a0073c0339t0009g0039 a0075c0199t0003g0340 a0076c0198t0003g0228 a0079c0342t0003g0338 a0080c0195t0003g0370 a0081c0194t0003g0100 a0082c0193t0003g0376 a0089c0183t0002g0352 a0090c0184t0007g0353 a0091c0180t0002g0374 a0092c0182t0013g0351 a0093c0176t0007g0106 a0094c0181t0007g0378 a0096c0197t0002g0101 a0097c0330t0004g0273 a0098c0055t0009g0211 a0100c0049t0010g0040 a0104c0167t0001g0208 a0105c0338t0007g0287 a0106c0164t0009g0224 a0107c0166t0009g0226 a0108c0165t0009g0225 a0109c0163t0009g0223 a0114c0173t0001g0064 a0115c0172t0001g0221 a0116c0171t0009g0200 a0120c0332t0003g0252 a0121c0333t0004g0253 a0122c0334t0003g0254 a0123c0331t0004g0251 a0124c0327t0005g0222 a0128c0277t0022g0032 a0129c0311t0013g0373 a0130c0283t0006g0220 a0132c0286t0004g0054 a0133c0310t0003g0075 a0141c0301t0001g0188 a0153c0279t0002g0375 a0154c0291t0002g0193 a0157c0278t0002g0067 a0158c0289t0002g0281 a0159c0288t0023g0136 a0162c0284t0002g0096 a0163c0313t0002g0190 a0164c0276t0006g0263 a0165c0207t0002g0336 a0166c0212t0003g0109 a0175c0324t0001g0147 a0187c0240t0001g0084 a0194c0230t0021g0057 a0202c0218t0002g0091 a0206c0221t0002g0265 a0207c0219t0006g0345 a0208c0220t0002g0312 a0210c0263t0002g0110 a0211c0262t0002g0329 a0215c0269t0002g0111 a0216c0264t0002g0184 a0217c0267t0002g0130 a0218c0266t0002g0330 a0219c0265t0002g0129 a0222c0205t0002g0114 a0223c0325t0016g0194 a0224c0204t0005g0073 a0225c0315t0003g0139 a0228c0328t0003g0148 a0230c0337t0002g0361 a0231c0343t0001g0256 a0232c0057t0002g0154 a0233c0142t0002g0030 a0235c0068t0002g0156 a0236c0067t0002g0155 a0238c0077t0002g0293 a0239c0076t0002g0292 a0240c0078t0002g0038 a0241c0079t0002g0089 a0242c0116t0003g0298 a0243c0115t0013g0297 a0244c0111t0002g0173 a0246c0113t0002g0083 a0247c0112t0001g0296 a0248c0109t0005g0257 a0253c0080t0007g0161 a0254c0081t0002g0162 a0255c0141t0002g0232 a0256c0082t0002g0164 a0257c0083t0002g0053 a0258c0106t0002g0170 a0259c0097t0002g0334 a0260c0103t0002g0282 a0261c0105t0002g0286 a0262c0104t0002g0285 a0263c0100t0002g0284 a0264c0099t0007g0168 a0265c0101t0025g0288 a0266c0098t0002g0090 a0267c0137t0003g0304 a0269c0123t0002g0337 a0272c0091t0002g0167 a0273c0090t0007g0372 a0274c0135t0007g0364 a0275c0120t0002g0174 a0276c0133t0007g0322 a0277c0121t0002g0175 a0278c0074t0002g0195 a0279c0087t0002g0166 a0280c0134t0006g0044 a0281c0132t0002g0303 a0282c0140t0002g0305 a0283c0130t0002g0310 a0284c0131t0002g0311 a0285c0124t0007g0309 a0286c0061t0002g0315 a0288c0086t0002g0381 a0289c0126t0002g0300 a0290c0128t0001g0301 a0291c0127t0002g0242 a0292c0125t0002g0279 a0293c0136t0002g0344 a0302c0066t0002g0383 a0303c0062t0006g0081 a0304c0064t0006g0276 a0305c0063t0006g0082 a0306c0058t0002g0234	210	424	0.4953	-6	c.139 others(17): Show c.13925_13930delAGGCCG	p.Glu others(15): Show p.Glu4642_Ala4643del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	14005/16005	13925/15267	4642/5088			chr8	TogoVar
EPPK1_chr8_143852324_143883467	143864144	CGGGCCT CGGGCCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01884.hp1 HG02257.hp1 HG02922.hp2 others(2): Show HG01884.hp1 HG02257.hp1 HG02922.hp2 HG02976.hp2 NA18997.hp1	a0019 a0054 a0229 a0019 a0054 a0229	a0019c0038 a0019c0245 a0054c0340 others(1): Show a0019c0038 a0019c0245 a0054c0340 a0229c0336	a0019c0038t0001 a0019c0038t0004 a0019c0245t0001 others(2): Show a0019c0038t0001 a0019c0038t0004 a0019c0245t0001 a0054c0340t0027 a0229c0336t0011	a0019c0038t0001g0209 a0019c0038t0004g0125 a0019c0245t0001g0210 others(2): Show a0019c0038t0001g0209 a0019c0038t0004g0125 a0019c0245t0001g0210 a0054c0340t0027g0045 a0229c0336t0011g0080	5	424	0.0118	-6	c.910 others(15): Show c.9104_9109delAGGCCC	p.Gln others(15): Show p.Gln3035_Ala3036del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	9184/16005	9104/15267	3035/5088			chr8	TogoVar
EPPK1_chr8_143852324_143883467	143865354	GGGCGGC GGGCGGC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(206): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp2 HG01069.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01978.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03927.hp1 HG03942.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18954.hp1 NA18956.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18982.hp2 NA18983.hp1 NA18986.hp2 NA18990.hp2 NA18991.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(143): Show a0001 a0002 a0004 a0012 a0016 a0017 a0018 a0019 a0024 a0025 a0028 a0029 a0031 a0032 a0036 a0041 a0048 a0050 a0052 a0056 a0057 a0058 a0059 a0060 a0061 a0062 a0063 a0064 a0065 a0066 a0067 a0071 a0072 a0077 a0080 a0081 a0083 a0084 a0085 a0086 a0087 a0098 a0099 a0100 a0101 a0102 a0103 a0107 a0108 a0109 a0110 a0111 a0112 a0113 a0114 a0116 a0117 a0118 a0119 a0121 a0122 a0124 a0125 a0126 a0127 a0130 a0131 a0132 a0133 a0135 a0136 a0137 a0138 a0139 a0140 a0141 a0142 a0143 a0144 a0145 a0146 a0147 a0148 a0149 a0153 a0161 a0167 a0168 a0173 a0174 a0175 a0176 a0177 a0178 a0179 a0180 a0181 a0182 a0183 a0184 a0185 a0186 a0187 a0188 a0189 a0190 a0191 a0192 a0193 a0194 a0195 a0196 a0197 a0198 a0199 a0200 a0201 a0205 a0209 a0212 a0213 a0214 a0220 a0221 a0222 a0223 a0224 a0226 a0227 a0231 a0234 a0237 a0243 a0246 a0247 a0249 a0250 a0257 a0266 a0269 a0270 a0271 a0297 a0298 a0299 a0300	a0001c0001 a0001c0005 a0001c0010 others(164): Show a0001c0001 a0001c0005 a0001c0010 a0001c0033 a0001c0035 a0001c0209 a0001c0236 a0001c0242 a0001c0249 a0001c0259 a0001c0275 a0002c0002 a0002c0296 a0002c0299 a0002c0318 a0002c0320 a0004c0011 a0004c0234 a0012c0009 a0016c0312 a0016c0319 a0016c0322 a0017c0012 a0018c0034 a0018c0206 a0019c0038 a0019c0245 a0024c0029 a0025c0161 a0025c0162 a0028c0039 a0029c0040 a0031c0036 a0032c0037 a0036c0016 a0041c0022 a0048c0060 a0048c0072 a0050c0346 a0052c0056 a0056c0158 a0057c0153 a0058c0155 a0059c0152 a0060c0154 a0061c0157 a0062c0156 a0063c0159 a0064c0150 a0065c0149 a0066c0148 a0067c0147 a0071c0347 a0072c0160 a0077c0175 a0080c0195 a0081c0194 a0083c0188 a0084c0191 a0085c0190 a0086c0189 a0087c0192 a0098c0055 a0099c0054 a0100c0049 a0101c0168 a0102c0169 a0103c0170 a0107c0166 a0108c0165 a0109c0163 a0110c0046 a0111c0047 a0112c0045 a0113c0048 a0114c0173 a0116c0171 a0117c0051 a0118c0052 a0119c0053 a0121c0333 a0122c0334 a0124c0327 a0125c0200 a0126c0202 a0127c0203 a0130c0283 a0131c0285 a0132c0286 a0133c0310 a0135c0300 a0136c0321 a0137c0297 a0138c0282 a0139c0314 a0140c0298 a0141c0301 a0142c0295 a0143c0308 a0144c0307 a0145c0309 a0146c0302 a0147c0304 a0148c0303 a0149c0294 a0153c0279 a0161c0306 a0167c0215 a0168c0216 a0173c0225 a0174c0323 a0175c0324 a0176c0227 a0177c0228 a0178c0211 a0179c0229 a0180c0243 a0181c0244 a0182c0232 a0183c0239 a0184c0238 a0185c0210 a0186c0344 a0187c0240 a0188c0241 a0189c0208 a0190c0251 a0191c0237 a0192c0235 a0193c0233 a0194c0230 a0195c0231 a0196c0246 a0197c0247 a0198c0248 a0199c0252 a0200c0250 a0201c0226 a0205c0256 a0209c0214 a0212c0271 a0213c0270 a0214c0272 a0220c0274 a0221c0201 a0222c0205 a0223c0325 a0224c0204 a0226c0326 a0227c0329 a0231c0343 a0234c0065 a0237c0139 a0243c0115 a0246c0113 a0247c0112 a0249c0108 a0250c0114 a0257c0083 a0266c0098 a0269c0123 a0270c0093 a0271c0138 a0297c0071 a0298c0070 a0299c0059 a0300c0073	a0001c0001t0001 a0001c0001t0005 a0001c0005t0001 others(171): Show a0001c0001t0001 a0001c0001t0005 a0001c0005t0001 a0001c0005t0004 a0001c0010t0001 a0001c0033t0001 a0001c0035t0001 a0001c0035t0004 a0001c0209t0001 a0001c0236t0001 a0001c0242t0001 a0001c0249t0001 a0001c0259t0001 a0001c0275t0001 a0002c0002t0001 a0002c0296t0001 a0002c0299t0005 a0002c0318t0001 a0002c0320t0008 a0004c0011t0001 a0004c0234t0005 a0012c0009t0001 a0016c0312t0008 a0016c0319t0008 a0016c0322t0008 a0017c0012t0001 a0018c0034t0001 a0018c0206t0001 a0019c0038t0001 a0019c0038t0004 a0019c0245t0001 a0024c0029t0001 a0025c0161t0001 a0025c0162t0001 a0028c0039t0001 a0028c0039t0004 a0029c0040t0001 a0029c0040t0004 a0031c0036t0001 a0032c0037t0001 a0032c0037t0004 a0036c0016t0001 a0041c0022t0002 a0048c0060t0001 a0048c0072t0001 a0050c0346t0001 a0052c0056t0018 a0056c0158t0001 a0057c0153t0001 a0058c0155t0001 a0059c0152t0001 a0060c0154t0001 a0061c0157t0004 a0062c0156t0004 a0063c0159t0004 a0064c0150t0001 a0065c0149t0002 a0066c0148t0007 a0067c0147t0002 a0071c0347t0001 a0072c0160t0009 a0077c0175t0012 a0080c0195t0003 a0081c0194t0003 a0083c0188t0001 a0084c0191t0012 a0085c0190t0001 a0086c0189t0001 a0087c0192t0012 a0098c0055t0009 a0099c0054t0001 a0100c0049t0010 a0101c0168t0005 a0102c0169t0001 a0103c0170t0005 a0107c0166t0009 a0108c0165t0009 a0109c0163t0009 a0110c0046t0010 a0111c0047t0010 a0112c0045t0010 a0113c0048t0010 a0114c0173t0001 a0116c0171t0009 a0117c0051t0004 a0118c0052t0001 a0119c0053t0004 a0121c0333t0004 a0122c0334t0003 a0124c0327t0005 a0125c0200t0001 a0126c0202t0001 a0127c0203t0001 a0130c0283t0006 a0131c0285t0001 a0132c0286t0004 a0133c0310t0003 a0135c0300t0001 a0136c0321t0008 a0137c0297t0001 a0138c0282t0001 a0139c0314t0019 a0140c0298t0001 a0141c0301t0001 a0142c0295t0001 a0143c0308t0001 a0144c0307t0001 a0145c0309t0001 a0146c0302t0001 a0147c0304t0001 a0148c0303t0001 a0149c0294t0001 a0153c0279t0002 a0161c0306t0005 a0167c0215t0005 a0168c0216t0001 a0173c0225t0005 a0174c0323t0001 a0175c0324t0001 a0176c0227t0001 a0177c0228t0005 a0178c0211t0001 a0179c0229t0001 a0180c0243t0001 a0181c0244t0001 a0182c0232t0001 a0183c0239t0017 a0184c0238t0001 a0185c0210t0001 a0186c0344t0001 a0187c0240t0001 a0188c0241t0001 a0189c0208t0001 a0190c0251t0001 a0191c0237t0001 a0192c0235t0001 a0193c0233t0001 a0194c0230t0021 a0195c0231t0001 a0196c0246t0001 a0197c0247t0001 a0198c0248t0001 a0199c0252t0001 a0200c0250t0001 a0201c0226t0001 a0205c0256t0001 a0209c0214t0010 a0212c0271t0004 a0213c0270t0001 a0214c0272t0001 a0220c0274t0001 a0221c0201t0001 a0222c0205t0002 a0223c0325t0016 a0224c0204t0005 a0226c0326t0005 a0227c0329t0001 a0231c0343t0001 a0234c0065t0005 a0237c0139t0001 a0243c0115t0013 a0246c0113t0002 a0247c0112t0001 a0249c0108t0001 a0250c0114t0001 a0257c0083t0002 a0266c0098t0002 a0269c0123t0002 a0270c0093t0001 a0271c0138t0001 a0297c0071t0001 a0298c0070t0020 a0299c0059t0001 a0300c0073t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0019 others(186): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0191 a0001c0001t0001g0308 a0001c0001t0001g0386 a0001c0001t0005g0151 a0001c0005t0001g0123 a0001c0005t0001g0180 a0001c0005t0001g0335 a0001c0005t0004g0192 a0001c0010t0001g0009 a0001c0010t0001g0117 a0001c0033t0001g0017 a0001c0035t0001g0179 a0001c0035t0004g0178 a0001c0209t0001g0116 a0001c0236t0001g0327 a0001c0242t0001g0124 a0001c0249t0001g0126 a0001c0259t0001g0314 a0001c0275t0001g0262 a0002c0002t0001g0003 a0002c0002t0001g0074 a0002c0002t0001g0076 a0002c0296t0001g0215 a0002c0299t0005g0092 a0002c0318t0001g0142 a0002c0320t0008g0143 a0004c0011t0001g0006 a0004c0234t0005g0268 a0012c0009t0001g0002 a0016c0312t0008g0189 a0016c0319t0008g0249 a0016c0322t0008g0145 a0017c0012t0001g0065 a0017c0012t0001g0066 a0017c0012t0001g0104 a0018c0034t0001g0012 a0018c0206t0001g0115 a0019c0038t0001g0209 a0019c0038t0004g0125 a0019c0245t0001g0210 a0024c0029t0001g0007 a0025c0161t0001g0196 a0025c0162t0001g0033 a0028c0039t0001g0198 a0028c0039t0004g0197 a0029c0040t0001g0060 a0029c0040t0004g0056 a0031c0036t0001g0013 a0032c0037t0001g0328 a0032c0037t0004g0122 a0036c0016t0001g0022 a0041c0022t0002g0023 a0048c0060t0001g0333 a0048c0072t0001g0159 a0050c0346t0001g0306 a0052c0056t0018g0283 a0056c0158t0001g0048 a0057c0153t0001g0049 a0058c0155t0001g0047 a0059c0152t0001g0274 a0060c0154t0001g0046 a0061c0157t0004g0237 a0062c0156t0004g0241 a0063c0159t0004g0059 a0064c0150t0001g0051 a0065c0149t0002g0219 a0066c0148t0007g0218 a0067c0147t0002g0217 a0071c0347t0001g0063 a0072c0160t0009g0036 a0077c0175t0012g0358 a0080c0195t0003g0370 a0081c0194t0003g0100 a0083c0188t0001g0366 a0084c0191t0012g0041 a0085c0190t0001g0348 a0086c0189t0001g0367 a0087c0192t0012g0359 a0098c0055t0009g0211 a0099c0054t0001g0103 a0100c0049t0010g0040 a0101c0168t0005g0238 a0102c0169t0001g0239 a0103c0170t0005g0240 a0107c0166t0009g0226 a0108c0165t0009g0225 a0109c0163t0009g0223 a0110c0046t0010g0071 a0111c0047t0010g0072 a0112c0045t0010g0070 a0113c0048t0010g0216 a0114c0173t0001g0064 a0116c0171t0009g0200 a0117c0051t0004g0205 a0118c0052t0001g0206 a0119c0053t0004g0207 a0121c0333t0004g0253 a0122c0334t0003g0254 a0124c0327t0005g0222 a0125c0200t0001g0289 a0126c0202t0001g0112 a0127c0203t0001g0113 a0130c0283t0006g0220 a0131c0285t0001g0214 a0132c0286t0004g0054 a0133c0310t0003g0075 a0135c0300t0001g0187 a0136c0321t0008g0144 a0137c0297t0001g0138 a0138c0282t0001g0201 a0139c0314t0019g0331 a0140c0298t0001g0099 a0141c0301t0001g0188 a0142c0295t0001g0078 a0143c0308t0001g0387 a0144c0307t0001g0058 a0145c0309t0001g0062 a0146c0302t0001g0105 a0147c0304t0001g0055 a0148c0303t0001g0199 a0149c0294t0001g0061 a0153c0279t0002g0375 a0161c0306t0005g0272 a0167c0215t0005g0119 a0168c0216t0001g0324 a0173c0225t0005g0107 a0174c0323t0001g0146 a0175c0324t0001g0147 a0176c0227t0001g0029 a0177c0228t0005g0031 a0178c0211t0001g0271 a0179c0229t0001g0150 a0180c0243t0001g0382 a0181c0244t0001g0259 a0182c0232t0001g0094 a0183c0239t0017g0121 a0184c0238t0001g0258 a0185c0210t0001g0176 a0186c0344t0001g0275 a0187c0240t0001g0084 a0188c0241t0001g0246 a0189c0208t0001g0086 a0190c0251t0001g0182 a0191c0237t0001g0068 a0192c0235t0001g0326 a0193c0233t0001g0325 a0194c0230t0021g0057 a0195c0231t0001g0177 a0196c0246t0001g0181 a0197c0247t0001g0313 a0198c0248t0001g0069 a0199c0252t0001g0127 a0200c0250t0001g0317 a0201c0226t0001g0120 a0205c0256t0001g0261 a0209c0214t0010g0212 a0212c0271t0004g0247 a0213c0270t0001g0235 a0214c0272t0001g0248 a0220c0274t0001g0250 a0221c0201t0001g0108 a0222c0205t0002g0114 a0223c0325t0016g0194 a0224c0204t0005g0073 a0226c0326t0005g0050 a0227c0329t0001g0264 a0231c0343t0001g0256 a0234c0065t0005g0291 a0237c0139t0001g0043 a0243c0115t0013g0297 a0246c0113t0002g0083 a0247c0112t0001g0296 a0249c0108t0001g0295 a0250c0114t0001g0319 a0257c0083t0002g0053 a0266c0098t0002g0090 a0269c0123t0002g0337 a0270c0093t0001g0343 a0271c0138t0001g0365 a0297c0071t0001g0380 a0298c0070t0020g0158 a0299c0059t0001g0332 a0300c0073t0001g0160	209	424	0.4929	-6	c.789 others(15): Show c.7894_7899delGCCGCC	p.Ala others(15): Show p.Ala2632_Ala2633del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	7974/16005	7894/15267	2632/5088			chr8	TogoVar
EPPK1_chr8_143852324_143883467	143865752	CGGGCCT CGGGCCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00408.hp1 HG00423.hp1 HG00673.hp2 others(17): Show HG00408.hp1 HG00423.hp1 HG00673.hp2 HG01106.hp2 HG01884.hp1 HG02109.hp1 HG02145.hp2 HG02559.hp1 HG02717.hp1 HG02970.hp2 HG03195.hp1 HG03471.hp1 HG03516.hp2 NA18906.hp2 NA18972.hp1 NA18974.hp1 NA19030.hp1 NA19058.hp1 NA19084.hp2 NA19240.hp1	a0015 a0054 a0065 others(15): Show a0015 a0054 a0065 a0066 a0067 a0068 a0073 a0075 a0078 a0079 a0092 a0120 a0129 a0160 a0163 a0223 a0228 a0242	a0015c0041 a0015c0316 a0054c0340 others(16): Show a0015c0041 a0015c0316 a0054c0340 a0065c0149 a0066c0148 a0067c0147 a0068c0146 a0073c0339 a0075c0199 a0078c0177 a0079c0342 a0092c0182 a0120c0332 a0129c0311 a0160c0317 a0163c0313 a0223c0325 a0228c0328 a0242c0116	a0015c0041t0003 a0015c0041t0013 a0015c0316t0003 others(17): Show a0015c0041t0003 a0015c0041t0013 a0015c0316t0003 a0054c0340t0027 a0065c0149t0002 a0066c0148t0007 a0067c0147t0002 a0068c0146t0003 a0073c0339t0009 a0075c0199t0003 a0078c0177t0003 a0079c0342t0003 a0092c0182t0013 a0120c0332t0003 a0129c0311t0013 a0160c0317t0003 a0163c0313t0002 a0223c0325t0016 a0228c0328t0003 a0242c0116t0003	a0015c0041t0003g0140 a0015c0041t0013g0097 a0015c0316t0003g0227 others(17): Show a0015c0041t0003g0140 a0015c0041t0013g0097 a0015c0316t0003g0227 a0054c0340t0027g0045 a0065c0149t0002g0219 a0066c0148t0007g0218 a0067c0147t0002g0217 a0068c0146t0003g0213 a0073c0339t0009g0039 a0075c0199t0003g0340 a0078c0177t0003g0339 a0079c0342t0003g0338 a0092c0182t0013g0351 a0120c0332t0003g0252 a0129c0311t0013g0373 a0160c0317t0003g0141 a0163c0313t0002g0190 a0223c0325t0016g0194 a0228c0328t0003g0148 a0242c0116t0003g0298	20	424	0.0472	-6	c.749 others(15): Show c.7496_7501delAGGCCC	p.Gln others(15): Show p.Gln2499_Ala2500del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	7576/16005	7496/15267	2499/5088			chr8	TogoVar
EPRS1_chr1_219963600_220051505	220015522	TGGAAAG TGGAAAG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(301): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0006 others(13): Show a0001 a0003 a0006 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020	a0001c0001 a0001c0002 a0001c0004 others(20): Show a0001c0001 a0001c0002 a0001c0004 a0001c0018 a0001c0022 a0001c0025 a0003c0005 a0003c0007 a0003c0008 a0006c0009 a0008c0011 a0009c0027 a0010c0023 a0011c0019 a0012c0020 a0013c0021 a0014c0017 a0015c0016 a0016c0024 a0017c0015 a0018c0026 a0019c0014 a0020c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0006 a0001c0004t0001 a0001c0018t0002 a0001c0022t0001 a0001c0025t0002 a0003c0005t0001 a0003c0007t0001 a0003c0008t0001 a0006c0009t0001 a0008c0011t0001 a0009c0027t0002 a0010c0023t0002 a0011c0019t0001 a0012c0020t0001 a0013c0021t0002 a0014c0017t0001 a0015c0016t0002 a0016c0024t0001 a0017c0015t0002 a0018c0026t0002 a0019c0014t0001 a0020c0013t0001	a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0001g0026 others(295): Show a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0036 a0001c0001t0001g0075 a0001c0001t0001g0184 a0001c0001t0001g0279 a0001c0001t0001g0293 a0001c0001t0001g0312 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0040 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0085 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0112 a0001c0001t0002g0118 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0191 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0347 a0001c0001t0002g0348 a0001c0001t0002g0349 a0001c0001t0002g0350 a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0003g0301 a0001c0001t0003g0320 a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0009 a0001c0002t0001g0038 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0049 a0001c0002t0001g0059 a0001c0002t0001g0068 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0088 a0001c0002t0001g0096 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0124 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0134 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0173 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0183 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0190 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0006g0172 a0001c0004t0001g0004 a0001c0004t0001g0033 a0001c0004t0001g0034 a0001c0004t0001g0035 a0001c0004t0001g0037 a0001c0004t0001g0051 a0001c0004t0001g0052 a0001c0004t0001g0053 a0001c0004t0001g0054 a0001c0004t0001g0065 a0001c0004t0001g0093 a0001c0004t0001g0094 a0001c0004t0001g0123 a0001c0004t0001g0130 a0001c0004t0001g0188 a0001c0018t0002g0020 a0001c0022t0001g0174 a0001c0025t0002g0120 a0003c0005t0001g0015 a0003c0005t0001g0016 a0003c0005t0001g0019 a0003c0005t0001g0021 a0003c0005t0001g0023 a0003c0005t0001g0024 a0003c0005t0001g0025 a0003c0005t0001g0027 a0003c0005t0001g0028 a0003c0005t0001g0029 a0003c0005t0001g0030 a0003c0007t0001g0061 a0003c0007t0001g0062 a0003c0007t0001g0087 a0003c0007t0001g0119 a0003c0007t0001g0121 a0003c0007t0001g0122 a0003c0007t0001g0141 a0003c0007t0001g0189 a0003c0007t0001g0306 a0003c0008t0001g0005 a0003c0008t0001g0131 a0003c0008t0001g0132 a0006c0009t0001g0014 a0006c0009t0001g0017 a0006c0009t0001g0018 a0008c0011t0001g0002 a0009c0027t0002g0351 a0010c0023t0002g0319 a0011c0019t0001g0039 a0012c0020t0001g0127 a0013c0021t0002g0267 a0014c0017t0001g0105 a0015c0016t0002g0235 a0016c0024t0001g0177 a0017c0015t0002g0243 a0018c0026t0002g0086 a0019c0014t0001g0311 a0020c0013t0001g0157	304	358	0.8492	-6	c.149 others(25): Show c.1494+2921_1494+2926delCTTTCC		EPRS1	ENSG00000136628.18	transcript	ENST00000366923.8	protein_coding	12/31						chr1	TogoVar
EPRS1_chr1_219963600_220051505	220020824	TTATATA TTATATA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03225.hp2 HG03579.hp2 HG02451.hp2 HG03225.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0266 a0001c0001t0002g0270 a0001c0001t0002g0274 a0001c0001t0002g0266 a0001c0001t0002g0270 a0001c0001t0002g0274	3	358	0.0084	-6	c.111 others(23): Show c.1116-609_1116-604delTATATA		EPRS1	ENSG00000136628.18	transcript	ENST00000366923.8	protein_coding	9/31						chr1	TogoVar
EPRS1_chr1_219963600_220051505	220034462	ATAAAGC ATAAAGC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02451.hp1 others(9): Show HG01884.hp2 HG02055.hp1 HG02451.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02717.hp2 HG02818.hp1 HG02896.hp2 HG03041.hp1 HG03540.hp1 HG03579.hp1	a0004 a0007 a0004 a0007	a0004c0006 a0007c0012 a0004c0006 a0007c0012	a0004c0006t0001 a0007c0012t0001 a0004c0006t0001 a0007c0012t0001	a0004c0006t0001g0337 a0004c0006t0001g0338 a0004c0006t0001g0339 others(9): Show a0004c0006t0001g0337 a0004c0006t0001g0338 a0004c0006t0001g0339 a0004c0006t0001g0340 a0004c0006t0001g0341 a0004c0006t0001g0342 a0004c0006t0001g0343 a0004c0006t0001g0344 a0004c0006t0001g0345 a0004c0006t0001g0346 a0007c0012t0001g0335 a0007c0012t0001g0336	12	358	0.0335	-6	c.231 others(21): Show c.231+446_231+451delGCTTTA		EPRS1	ENSG00000136628.18	transcript	ENST00000366923.8	protein_coding	3/31						chr1	TogoVar
EPS15L1_chr19_16350247_16476970	16393077	TATAATA TATAATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01243.hp1 HG01884.hp1 others(5): Show HG00099.hp2 HG01243.hp1 HG01884.hp1 HG01934.hp2 HG02895.hp1 NA18747.hp2 NA20129.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0119 a0001c0001t0001g0130 a0001c0001t0001g0161 others(5): Show a0001c0001t0001g0119 a0001c0001t0001g0130 a0001c0001t0001g0161 a0001c0001t0001g0176 a0001c0001t0001g0223 a0001c0001t0001g0262 a0001c0001t0001g0271 a0001c0004t0001g0046	8	276	0.0290	-6	c.196 others(23): Show c.1967-643_1967-638delTATTAT		EPS15L1	ENSG00000127527.14	transcript	ENST00000455140.7	protein_coding	18/23						chr19	TogoVar
EPS15L1_chr19_16350247_16476970	16428550	AAGAAAG AAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00735.hp2 others(11): Show HG00099.hp1 HG00323.hp2 HG00735.hp2 HG01496.hp2 HG02293.hp2 HG02602.hp2 HG02895.hp1 HG04115.hp2 HG04204.hp2 NA18949.hp2 NA18962.hp2 NA18971.hp2 NA18998.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 others(11): Show a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0067 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264	14	276	0.0507	-6	c.558 others(21): Show c.558+146_558+151delCTTTCT		EPS15L1	ENSG00000127527.14	transcript	ENST00000455140.7	protein_coding	8/23						chr19	TogoVar
EPS15L1_chr19_16350247_16476970	16432587	TAAATAC TAAATAC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00544.hp1 others(44): Show HG00408.hp1 HG00423.hp1 HG00544.hp1 HG00609.hp2 HG00741.hp1 HG01257.hp2 HG02015.hp1 HG02040.hp2 HG02083.hp2 HG02129.hp2 HG02135.hp2 HG02155.hp1 HG02165.hp1 HG02451.hp2 HG02683.hp2 HG03688.hp2 HG04184.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18940.hp2 NA18943.hp2 NA18945.hp2 NA18948.hp1 NA18949.hp1 NA18951.hp2 NA18955.hp1 NA18961.hp1 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18969.hp2 NA18992.hp1 NA18995.hp1 NA18997.hp2 NA18999.hp1 NA19011.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19067.hp2 NA19077.hp2 NA19079.hp1 NA19085.hp2 NA20129.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0004c0006t0001	a0001c0001t0001g0004 a0001c0001t0001g0074 a0001c0001t0001g0075 others(44): Show a0001c0001t0001g0004 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0126 a0001c0001t0001g0132 a0001c0001t0001g0141 a0001c0001t0001g0233 a0001c0001t0001g0263 a0001c0001t0001g0273 a0001c0001t0005g0113 a0001c0001t0007g0114 a0004c0006t0001g0084	47	276	0.1703	-6	c.498 others(23): Show c.498+1772_498+1777delGTATTT		EPS15L1	ENSG00000127527.14	transcript	ENST00000455140.7	protein_coding	7/23						chr19	TogoVar
EPS15L1_chr19_16350247_16476970	16464729	TACACTA TACACTA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01243.hp2 HG02027.hp1 others(21): Show HG00423.hp2 HG01243.hp2 HG02027.hp1 HG02083.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02559.hp2 HG02922.hp1 HG02965.hp1 HG03139.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03516.hp2 HG03688.hp1 HG03927.hp2 HG04228.hp2 HG06807.hp1 NA18943.hp1 NA18948.hp2 NA19002.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0008 a0001c0001t0001 a0001c0007t0008	a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 others(21): Show a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0116 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0194 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0272 a0001c0007t0008g0048	24	276	0.0870	-6	c.33+ others(21): Show c.33+7178_33+7183delTAGTGT		EPS15L1	ENSG00000127527.14	transcript	ENST00000455140.7	protein_coding	1/23						chr19	TogoVar
EPS15_chr1_51349263_51524266	51398515	CACCAGT CACCAGT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02572.hp1 HG03041.hp1 others(6): Show HG02257.hp1 HG02572.hp1 HG03041.hp1 HG03098.hp1 HG03139.hp2 HG03486.hp1 NA18522.hp2 NA18906.hp2 NA19043.hp2	a0002 a0007 a0002 a0007	a0002c0001 a0007c0009 a0002c0001 a0007c0009	a0002c0001t0006 a0002c0001t0012 a0002c0001t0016 others(1): Show a0002c0001t0006 a0002c0001t0012 a0002c0001t0016 a0007c0009t0015	a0002c0001t0006g0028 a0002c0001t0006g0029 a0002c0001t0006g0034 others(6): Show a0002c0001t0006g0028 a0002c0001t0006g0029 a0002c0001t0006g0034 a0002c0001t0006g0035 a0002c0001t0012g0001 a0002c0001t0012g0002 a0002c0001t0012g0003 a0002c0001t0016g0027 a0007c0009t0015g0125	9	152	0.0592	-6	c.205 others(23): Show c.2052+511_2052+516delACTGGT		EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	20/24						chr1	TogoVar
EPS15_chr1_51349263_51524266	51400712	CAAAAAA CAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01346.hp1 HG02735.hp2 others(4): Show HG01167.hp2 HG01346.hp1 HG02735.hp2 HG02738.hp2 HG03195.hp2 HG03654.hp1 HG04199.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0004 a0002c0004t0002g0005 a0002c0004t0002g0009 others(4): Show a0002c0004t0002g0004 a0002c0004t0002g0005 a0002c0004t0002g0009 a0002c0004t0002g0013 a0002c0004t0002g0014 a0002c0004t0002g0015 a0002c0004t0002g0137	7	152	0.0461	-6	c.191 others(23): Show c.1918+200_1918+205delTTTTTT		EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	19/24						chr1	TogoVar
EPS15_chr1_51349263_51524266	51425426	ATCATCT ATCATCT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show HG01109.hp2 HG02559.hp2 HG03195.hp1 HG03471.hp2 NA19043.hp1	a0002 a0004 a0006 a0002 a0004 a0006	a0002c0001 a0004c0015 a0006c0010 a0002c0001 a0004c0015 a0006c0010	a0002c0001t0011 a0004c0015t0011 a0006c0010t0026 a0002c0001t0011 a0004c0015t0011 a0006c0010t0026	a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 a0004c0015t0011g0152 a0006c0010t0026g0129	5	152	0.0329	-6	c.104 others(25): Show c.1041-3574_1041-3569delAGATGA		EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	12/24						chr1	TogoVar
EPS15_chr1_51349263_51524266	51430977	TACACAC TACACAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00738.hp1 HG01167.hp2 others(20): Show HG00639.hp2 HG00738.hp1 HG01167.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG02109.hp1 HG02486.hp2 HG02647.hp1 HG02723.hp2 HG02818.hp2 HG02922.hp1 HG02970.hp2 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03491.hp2 HG03834.hp2 NA18522.hp1 NA20752.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 others(2): Show a0001c0002 a0001c0003 a0002c0001 a0002c0004 a0002c0014	a0001c0002t0001 a0001c0003t0001 a0002c0001t0004 others(3): Show a0001c0002t0001 a0001c0003t0001 a0002c0001t0004 a0002c0001t0008 a0002c0004t0002 a0002c0014t0002	a0001c0002t0001g0026 a0001c0002t0001g0046 a0001c0002t0001g0047 others(20): Show a0001c0002t0001g0026 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0082 a0001c0002t0001g0088 a0001c0003t0001g0081 a0001c0003t0001g0103 a0002c0001t0004g0020 a0002c0001t0004g0021 a0002c0001t0004g0040 a0002c0001t0004g0124 a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 a0002c0001t0008g0123 a0002c0004t0002g0008 a0002c0004t0002g0009 a0002c0004t0002g0011 a0002c0004t0002g0012 a0002c0004t0002g0015 a0002c0004t0002g0016 a0002c0014t0002g0010	23	152	0.1513	-6	c.104 others(25): Show c.1041-9125_1041-9120delGTGTGT		EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	12/24						chr1	TogoVar
EPS15_chr1_51349263_51524266	51431023	CACACAA CACACAA	C C	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01175.hp1 HG02055.hp2 others(1): Show HG01168.hp1 HG01175.hp1 HG02055.hp2 HG02258.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0001 a0002c0001t0005 a0002c0001t0023 others(1): Show a0001c0003t0001 a0002c0001t0005 a0002c0001t0023 a0002c0001t0024	a0001c0003t0001g0100 a0002c0001t0005g0146 a0002c0001t0023g0151 others(1): Show a0001c0003t0001g0100 a0002c0001t0005g0146 a0002c0001t0023g0151 a0002c0001t0024g0145	4	152	0.0263	-6	c.104 others(25): Show c.1041-9171_1041-9166delTTGTGT		EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	12/24						chr1	TogoVar
EPS15_chr1_51349263_51524266	51439755	AGCTGAC AGCTGAC	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03491.hp1 HG03492.hp2 others(2): Show HG00735.hp2 HG03491.hp1 HG03492.hp2 HG06807.hp1 NA19030.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0009 a0002c0001t0022 a0002c0001t0009 a0002c0001t0022	a0002c0001t0009g0116 a0002c0001t0009g0117 a0002c0001t0009g0118 others(2): Show a0002c0001t0009g0116 a0002c0001t0009g0117 a0002c0001t0009g0118 a0002c0001t0009g0119 a0002c0001t0022g0115	5	152	0.0329	-6	c.104 others(23): Show c.1040+586_1040+591delGTCAGC		EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	12/24						chr1	TogoVar
EPS15_chr1_51349263_51524266	51440277	CTGTGTG CTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01109.hp1 HG01175.hp1 others(16): Show HG00733.hp2 HG01109.hp1 HG01175.hp1 HG01346.hp1 HG01884.hp2 HG01891.hp2 HG02055.hp2 HG02257.hp2 HG02258.hp2 HG02486.hp1 HG02615.hp1 HG02630.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03486.hp2 NA19030.hp1 NA19240.hp2 NA20300.hp1	a0002 a0008 a0002 a0008	a0002c0001 a0002c0004 a0008c0011 a0002c0001 a0002c0004 a0008c0011	a0002c0001t0004 a0002c0001t0005 a0002c0001t0012 others(5): Show a0002c0001t0004 a0002c0001t0005 a0002c0001t0012 a0002c0001t0021 a0002c0001t0023 a0002c0001t0024 a0002c0004t0002 a0008c0011t0025	a0002c0001t0004g0024 a0002c0001t0004g0038 a0002c0001t0004g0039 others(16): Show a0002c0001t0004g0024 a0002c0001t0004g0038 a0002c0001t0004g0039 a0002c0001t0005g0138 a0002c0001t0005g0139 a0002c0001t0005g0141 a0002c0001t0005g0142 a0002c0001t0005g0143 a0002c0001t0005g0144 a0002c0001t0005g0146 a0002c0001t0005g0148 a0002c0001t0005g0149 a0002c0001t0005g0150 a0002c0001t0012g0003 a0002c0001t0021g0147 a0002c0001t0023g0151 a0002c0001t0024g0145 a0002c0004t0002g0004 a0008c0011t0025g0140	19	152	0.1250	-6	c.104 others(21): Show c.1040+64_1040+69delCACACA		EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	12/24						chr1	TogoVar
EPS15_chr1_51349263_51524266	51451490	CAAAAAA CAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03491.hp1 HG03492.hp2 others(2): Show HG00735.hp2 HG03491.hp1 HG03492.hp2 HG06807.hp1 NA19030.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0009 a0002c0001t0022 a0002c0001t0009 a0002c0001t0022	a0002c0001t0009g0116 a0002c0001t0009g0117 a0002c0001t0009g0118 others(2): Show a0002c0001t0009g0116 a0002c0001t0009g0117 a0002c0001t0009g0118 a0002c0001t0009g0119 a0002c0001t0022g0115	5	152	0.0329	-6	c.562 others(23): Show c.562-3361_562-3356delTTTTTT		EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	8/24						chr1	TogoVar
EPS15_chr1_51349263_51524266	51469167	ATGATAT ATGATAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show HG01109.hp2 HG02559.hp2 HG03195.hp1 HG03471.hp2 NA19043.hp1	a0002 a0004 a0006 a0002 a0004 a0006	a0002c0001 a0004c0015 a0006c0010 a0002c0001 a0004c0015 a0006c0010	a0002c0001t0011 a0004c0015t0011 a0006c0010t0026 a0002c0001t0011 a0004c0015t0011 a0006c0010t0026	a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 a0004c0015t0011g0152 a0006c0010t0026g0129	5	152	0.0329	-6	c.214 others(21): Show c.214-605_214-600delATATCA		EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	4/24						chr1	TogoVar
EPS15_chr1_51349263_51524266	51483398	AGTGTGT AGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01346.hp1 HG01891.hp1 others(11): Show HG00642.hp1 HG01346.hp1 HG01891.hp1 HG02109.hp2 HG02630.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG03209.hp2 HG03654.hp1 HG04199.hp1 HG06807.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0002c0004 others(1): Show a0001c0002 a0002c0001 a0002c0004 a0002c0007	a0001c0002t0002 a0002c0001t0007 a0002c0001t0010 others(2): Show a0001c0002t0002 a0002c0001t0007 a0002c0001t0010 a0002c0004t0002 a0002c0007t0010	a0001c0002t0002g0030 a0001c0002t0002g0031 a0002c0001t0007g0133 others(11): Show a0001c0002t0002g0030 a0001c0002t0002g0031 a0002c0001t0007g0133 a0002c0001t0010g0041 a0002c0001t0010g0042 a0002c0004t0002g0004 a0002c0004t0002g0005 a0002c0004t0002g0006 a0002c0004t0002g0007 a0002c0004t0002g0008 a0002c0004t0002g0013 a0002c0004t0002g0014 a0002c0004t0002g0137 a0002c0007t0010g0043	14	152	0.0921	-6	c.34- others(21): Show c.34-2090_34-2085delACACAC		EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	1/24						chr1	TogoVar
EPS15_chr1_51349263_51524266	51508228	GAAAAGA GAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03139.hp2 HG02257.hp1 HG03139.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0012 a0002c0001t0012	a0002c0001t0012g0001 a0002c0001t0012g0003 a0002c0001t0012g0001 a0002c0001t0012g0003	2	152	0.0132	-6	c.33+ others(23): Show c.33+10965_33+10970delTCTTTT		EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	1/24						chr1	TogoVar
EPS15_chr1_51349263_51524266	51508336	GAGAGAA GAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03209.hp1 NA19030.hp1 HG02257.hp2 HG03209.hp1 NA19030.hp1	a0002 a0008 a0002 a0008	a0002c0001 a0008c0011 a0002c0001 a0008c0011	a0002c0001t0005 a0008c0011t0025 a0002c0001t0005 a0008c0011t0025	a0002c0001t0005g0138 a0002c0001t0005g0139 a0008c0011t0025g0140 a0002c0001t0005g0138 a0002c0001t0005g0139 a0008c0011t0025g0140	3	152	0.0197	-6	c.33+ others(23): Show c.33+10857_33+10862delTTCTCT		EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	1/24						chr1	TogoVar
EPS8L1_chr19_55070869_55092923	55075811	TGCGGAG TGCGGAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00609.hp1 HG00621.hp1 others(40): Show HG00544.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG00741.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp2 HG01175.hp1 HG01255.hp2 HG01258.hp1 HG01346.hp2 HG01358.hp1 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG02004.hp2 HG02257.hp1 HG02258.hp2 HG02293.hp1 HG02572.hp1 HG02738.hp2 HG02809.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18963.hp2 NA18967.hp1 NA18975.hp1 NA18979.hp1 NA18982.hp2 NA18997.hp1 NA19002.hp1 NA19011.hp1 NA19043.hp2 NA19057.hp2 NA19074.hp2 NA19082.hp2 NA20805.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0007 a0012 a0013	a0001c0001 a0001c0008 a0001c0012 others(5): Show a0001c0001 a0001c0008 a0001c0012 a0002c0002 a0003c0003 a0007c0011 a0012c0010 a0013c0009	a0001c0001t0001 a0001c0001t0002 a0001c0008t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0008t0001 a0001c0012t0001 a0002c0002t0001 a0003c0003t0001 a0003c0003t0004 a0007c0011t0001 a0012c0010t0001 a0013c0009t0001	a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0169 others(26): Show a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0169 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0002g0172 a0001c0008t0001g0157 a0001c0012t0001g0170 a0002c0002t0001g0171 a0003c0003t0001g0013 a0003c0003t0001g0019 a0003c0003t0001g0033 a0003c0003t0001g0034 a0003c0003t0001g0051 a0003c0003t0001g0159 a0003c0003t0001g0160 a0003c0003t0001g0162 a0003c0003t0001g0163 a0003c0003t0001g0164 a0003c0003t0001g0165 a0003c0003t0001g0166 a0003c0003t0001g0168 a0003c0003t0001g0176 a0003c0003t0001g0178 a0003c0003t0001g0179 a0003c0003t0004g0161 a0007c0011t0001g0174 a0012c0010t0001g0167 a0013c0009t0001g0158	43	340	0.1265	-6	c.-14 others(15): Show c.-145_-140delGCGGAG		EPS8L1	ENSG00000131037.15	transcript	ENST00000201647.11	protein_coding					57		chr19	TogoVar
EPS8L1_chr19_55070869_55092923	55077932	CAATAAT CAATAAT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01515.hp2 HG02258.hp2 others(10): Show HG00438.hp2 HG01515.hp2 HG02258.hp2 HG02895.hp2 HG02897.hp1 HG03041.hp1 HG04228.hp1 NA18948.hp1 NA18948.hp2 NA18963.hp2 NA18982.hp1 NA18983.hp2 NA18995.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0013	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0013c0009	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(2): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0004c0004t0001 a0013c0009t0001	a0001c0001t0001g0044 a0001c0001t0001g0110 a0001c0001t0001g0111 others(7): Show a0001c0001t0001g0044 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0002c0002t0001g0020 a0002c0002t0001g0061 a0002c0002t0001g0079 a0003c0003t0001g0176 a0004c0004t0001g0142 a0013c0009t0001g0158	13	340	0.0382	-6	c.18- others(19): Show c.18-120_18-115delTAATAA		EPS8L1	ENSG00000131037.15	transcript	ENST00000201647.11	protein_coding	2/19					INFO_REALIGN_3_PRIME	chr19	TogoVar
EPS8L2_chr11_701231_732727	711259	TGCGTGC TGCGTGC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01167.hp1 HG01891.hp1 others(8): Show HG00741.hp1 HG01167.hp1 HG01891.hp1 HG02647.hp2 HG02735.hp2 HG02922.hp2 HG03098.hp1 HG03491.hp2 HG03492.hp2 HG03669.hp1 HG03831.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0003 a0003c0008 a0001c0002 a0001c0003 a0003c0008	a0001c0002t0001 a0001c0002t0010 a0001c0003t0001 others(2): Show a0001c0002t0001 a0001c0002t0010 a0001c0003t0001 a0001c0003t0006 a0003c0008t0001	a0001c0002t0001g0166 a0001c0002t0001g0300 a0001c0002t0001g0303 others(7): Show a0001c0002t0001g0166 a0001c0002t0001g0300 a0001c0002t0001g0303 a0001c0002t0010g0142 a0001c0002t0010g0304 a0001c0003t0001g0028 a0001c0003t0001g0302 a0001c0003t0001g0305 a0001c0003t0006g0301 a0003c0008t0001g0306	11	406	0.0271	-6	c.165 others(21): Show c.165+775_165+780delCGTGCG		EPS8L2	ENSG00000177106.17	transcript	ENST00000318562.13	protein_coding	4/20					INFO_REALIGN_3_PRIME	chr11	TogoVar
EPS8L2_chr11_701231_732727	711263	TGCGTGC TGCGTGC	T T	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA19067.hp1 NA19068.hp1 NA18999.hp1 NA19067.hp1 NA19068.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0009 a0001c0005t0001 a0001c0003t0009 a0001c0005t0001	a0001c0003t0009g0020 a0001c0005t0001g0218 a0001c0003t0009g0020 a0001c0005t0001g0218	3	406	0.0074	-6	c.165 others(21): Show c.165+779_165+784delCGTGCG		EPS8L2	ENSG00000177106.17	transcript	ENST00000318562.13	protein_coding	4/20					INFO_REALIGN_3_PRIME	chr11	TogoVar
EPS8L3_chr1_109745080_109768923	109759144	AGTGTGT AGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp2 others(37): Show HG00140.hp1 HG00280.hp2 HG00323.hp2 HG01069.hp1 HG01071.hp1 HG01192.hp2 HG01243.hp1 HG01261.hp1 HG01884.hp1 HG01952.hp1 HG02109.hp1 HG02145.hp1 HG02258.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02896.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03834.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA19005.hp1 NA19090.hp2 NA20300.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0007 a0013 a0014 a0018	a0001c0001 a0002c0002 a0002c0005 others(7): Show a0001c0001 a0002c0002 a0002c0005 a0003c0004 a0004c0003 a0005c0006 a0007c0009 a0013c0028 a0014c0019 a0018c0022	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 others(10): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0002c0005t0001 a0003c0004t0001 a0004c0003t0001 a0004c0003t0002 a0005c0006t0001 a0005c0006t0003 a0007c0009t0001 a0013c0028t0001 a0014c0019t0003 a0018c0022t0001	a0001c0001t0001g0015 a0001c0001t0001g0034 a0001c0001t0001g0232 others(24): Show a0001c0001t0001g0015 a0001c0001t0001g0034 a0001c0001t0001g0232 a0001c0001t0003g0067 a0002c0002t0001g0062 a0002c0005t0001g0051 a0003c0004t0001g0191 a0004c0003t0001g0226 a0004c0003t0002g0132 a0005c0006t0001g0016 a0005c0006t0001g0053 a0005c0006t0001g0056 a0005c0006t0001g0059 a0005c0006t0001g0107 a0005c0006t0001g0126 a0005c0006t0001g0196 a0005c0006t0001g0197 a0005c0006t0001g0203 a0005c0006t0001g0212 a0005c0006t0001g0224 a0005c0006t0001g0225 a0005c0006t0003g0073 a0007c0009t0001g0209 a0007c0009t0001g0238 a0013c0028t0001g0134 a0014c0019t0003g0103 a0018c0022t0001g0192	40	426	0.0939	-6	c.406 others(19): Show c.406-33_406-28delACACAC		EPS8L3	ENSG00000198758.11	transcript	ENST00000361965.9	protein_coding	5/18						chr1	TogoVar
EPS8_chr12_15615134_15794388	15632446	TTAAATC TTAAATC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02132.hp1 HG00597.hp2 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0056 a0001c0001t0001g0025 a0001c0001t0001g0056	2	102	0.0196	-6	c.182 others(23): Show c.1822-788_1822-783delGATTTA		EPS8	ENSG00000151491.14	transcript	ENST00000281172.10	protein_coding	17/20						chr12	TogoVar
EPS8_chr12_15615134_15794388	15673315	TTATAAA TTATAAA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02258.hp2 HG02886.hp1 others(3): Show HG01109.hp1 HG02258.hp2 HG02886.hp1 HG03098.hp1 HG03471.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0002 a0001c0001t0009 a0001c0002t0003 others(1): Show a0001c0001t0002 a0001c0001t0009 a0001c0002t0003 a0001c0010t0004	a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0009g0057 others(3): Show a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0009g0057 a0001c0002t0003g0001 a0001c0002t0003g0002 a0001c0010t0004g0007	6	102	0.0588	-6	c.137 others(23): Show c.137-2398_137-2393delTTTATA		EPS8	ENSG00000151491.14	transcript	ENST00000281172.10	protein_coding	3/20						chr12	TogoVar
EPS8_chr12_15615134_15794388	15681305	GTAATAA GTAATAA	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01109.hp2 HG02055.hp2 HG02922.hp1 others(3): Show HG01109.hp2 HG02055.hp2 HG02922.hp1 HG03130.hp1 HG03139.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0011 a0001c0002t0001g0006 a0001c0002t0001g0008 others(3): Show a0001c0001t0001g0011 a0001c0002t0001g0006 a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0073 a0001c0002t0001g0074	6	102	0.0588	-6	c.60- others(15): Show c.60-9_60-4delTTATTA		EPS8	ENSG00000151491.14	transcript	ENST00000281172.10	protein_coding	2/20						chr12	TogoVar
EPS8_chr12_15615134_15794388	15780481	AACACAC AACACAC	A A	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02055.hp2 HG02109.hp1 others(10): Show HG01071.hp2 HG02055.hp2 HG02109.hp1 HG02145.hp1 HG02559.hp1 HG02717.hp1 HG02965.hp2 HG03139.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 NA19030.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0068 others(10): Show a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078	13	102	0.1275	-6	c.-22 others(23): Show c.-22+8674_-22+8679delGTGTGT		EPS8	ENSG00000151491.14	transcript	ENST00000281172.10	protein_coding	1/20						chr12	TogoVar
EPSTI1_chr13_42881388_42997241	42903853	TAGAAAA TAGAAAA	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01433.hp2 HG01934.hp1 others(17): Show HG00597.hp2 HG01433.hp2 HG01934.hp1 HG02040.hp2 HG02886.hp2 HG03098.hp2 HG03710.hp1 HG03831.hp2 HG04228.hp2 NA18944.hp2 NA18949.hp2 NA18956.hp2 NA18986.hp2 NA18998.hp2 NA19064.hp2 NA19066.hp2 NA19085.hp1 NA19087.hp2 NA19088.hp2 NA19240.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0004c0012 a0005c0009 a0001c0001 a0004c0012 a0005c0009	a0001c0001t0008 a0001c0001t0012 a0001c0001t0014 others(4): Show a0001c0001t0008 a0001c0001t0012 a0001c0001t0014 a0001c0001t0018 a0001c0001t0040 a0004c0012t0006 a0005c0009t0041	a0001c0001t0008g0027 a0001c0001t0008g0094 a0001c0001t0008g0123 others(17): Show a0001c0001t0008g0027 a0001c0001t0008g0094 a0001c0001t0008g0123 a0001c0001t0012g0220 a0001c0001t0014g0259 a0001c0001t0014g0260 a0001c0001t0014g0273 a0001c0001t0014g0274 a0001c0001t0014g0282 a0001c0001t0014g0298 a0001c0001t0014g0343 a0001c0001t0014g0344 a0001c0001t0018g0005 a0001c0001t0018g0017 a0001c0001t0018g0018 a0001c0001t0018g0030 a0001c0001t0018g0053 a0001c0001t0040g0143 a0004c0012t0006g0302 a0005c0009t0041g0105	20	352	0.0568	-6	c.742 others(23): Show c.742-3476_742-3471delTTTTCT		EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	8/10						chr13	TogoVar
EPSTI1_chr13_42881388_42997241	42926990	GACACAC GACACAC	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00733.hp1 HG01069.hp1 others(43): Show HG00642.hp1 HG00733.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01106.hp2 HG01168.hp1 HG01175.hp2 HG01192.hp1 HG01261.hp1 HG01346.hp1 HG01361.hp2 HG01496.hp2 HG01516.hp1 HG01934.hp2 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02293.hp1 HG02615.hp2 HG02622.hp2 HG02683.hp1 HG02698.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG03490.hp1 HG03516.hp2 HG03579.hp1 HG03834.hp1 HG04199.hp1 HG04204.hp1 NA18522.hp2 NA18612.hp2 NA19030.hp1 NA19060.hp2 NA19240.hp1 NA20129.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0004c0012 a0004c0013 a0006c0014	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(21): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0034 a0001c0001t0035 a0001c0001t0050 a0001c0002t0001 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0011 a0001c0003t0038 a0004c0012t0006 a0004c0013t0006 a0006c0014t0002	a0001c0001t0002g0196 a0001c0001t0002g0223 a0001c0001t0002g0245 others(43): Show a0001c0001t0002g0196 a0001c0001t0002g0223 a0001c0001t0002g0245 a0001c0001t0004g0152 a0001c0001t0004g0162 a0001c0001t0004g0173 a0001c0001t0004g0176 a0001c0001t0006g0329 a0001c0001t0008g0012 a0001c0001t0008g0060 a0001c0001t0012g0308 a0001c0001t0016g0340 a0001c0001t0017g0159 a0001c0001t0017g0174 a0001c0001t0019g0309 a0001c0001t0020g0154 a0001c0001t0021g0148 a0001c0001t0021g0155 a0001c0001t0021g0168 a0001c0001t0021g0169 a0001c0001t0021g0170 a0001c0001t0022g0010 a0001c0001t0024g0209 a0001c0001t0024g0339 a0001c0001t0034g0171 a0001c0001t0035g0098 a0001c0001t0050g0348 a0001c0002t0001g0043 a0001c0002t0001g0095 a0001c0002t0001g0158 a0001c0002t0005g0003 a0001c0002t0005g0004 a0001c0002t0005g0149 a0001c0002t0005g0153 a0001c0002t0005g0178 a0001c0002t0005g0179 a0001c0002t0005g0181 a0001c0002t0006g0307 a0001c0002t0007g0244 a0001c0002t0007g0310 a0001c0002t0011g0147 a0001c0002t0011g0156 a0001c0003t0038g0172 a0004c0012t0006g0302 a0004c0013t0006g0198 a0006c0014t0002g0243	46	352	0.1307	-6	c.564 others(21): Show c.564-567_564-562delGTGTGT		EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	6/10						chr13	TogoVar
EPSTI1_chr13_42881388_42997241	42965679	GTCCCTC GTCCCTC	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02258.hp2 HG02922.hp2 others(4): Show HG02257.hp1 HG02258.hp2 HG02922.hp2 HG02976.hp1 HG03209.hp1 HG03225.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0001t0012 a0001c0001t0016 others(2): Show a0001c0001t0007 a0001c0001t0012 a0001c0001t0016 a0001c0002t0006 a0001c0002t0014	a0001c0001t0007g0256 a0001c0001t0012g0254 a0001c0001t0016g0246 others(4): Show a0001c0001t0007g0256 a0001c0001t0012g0254 a0001c0001t0016g0246 a0001c0001t0016g0252 a0001c0001t0016g0258 a0001c0002t0006g0253 a0001c0002t0014g0255	7	352	0.0199	-6	c.332 others(23): Show c.332-1546_332-1541delGAGGGA		EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	3/10						chr13	TogoVar
EPSTI1_chr13_42881388_42997241	42965768	TCCTCTC TCCTCTC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01168.hp1 HG02280.hp1 HG00733.hp1 HG01168.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0021 a0001c0002t0007 a0001c0001t0021 a0001c0002t0007	a0001c0001t0021g0168 a0001c0001t0021g0169 a0001c0002t0007g0350 a0001c0001t0021g0168 a0001c0001t0021g0169 a0001c0002t0007g0350	3	352	0.0085	-6	c.332 others(23): Show c.332-1635_332-1630delGAGAGG		EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	3/10						chr13	TogoVar
EPX_chr17_58187726_58210174	58203931	CAAAAAA CAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp2 HG02145.hp2 others(10): Show HG01891.hp1 HG01891.hp2 HG02145.hp2 HG02257.hp2 HG02738.hp2 HG02896.hp1 HG03225.hp2 HG03453.hp2 HG03831.hp1 HG04199.hp1 NA18939.hp2 NA19000.hp2 NA19063.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0009	a0001c0002 a0002c0005 a0003c0004 others(2): Show a0001c0002 a0002c0005 a0003c0004 a0004c0003 a0009c0012	a0001c0002t0002 a0001c0002t0003 a0002c0005t0002 others(3): Show a0001c0002t0002 a0001c0002t0003 a0002c0005t0002 a0003c0004t0002 a0004c0003t0001 a0009c0012t0002	a0001c0002t0002g0080 a0001c0002t0003g0030 a0001c0002t0003g0127 others(4): Show a0001c0002t0002g0080 a0001c0002t0003g0030 a0001c0002t0003g0127 a0002c0005t0002g0044 a0003c0004t0002g0019 a0004c0003t0001g0022 a0009c0012t0002g0058	13	404	0.0322	-6	c.194 others(23): Show c.1947-257_1947-252delAAAAAA		EPX	ENSG00000121053.6	transcript	ENST00000225371.6	protein_coding	11/12					INFO_REALIGN_3_PRIME	chr17	TogoVar
EPYC_chr12_90958682_91009972	90974032	ACACACT ACACACT	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01928.hp2 HG01934.hp1 others(14): Show HG01123.hp1 HG01928.hp2 HG01934.hp1 HG01993.hp1 HG02109.hp2 HG02148.hp2 HG02895.hp2 HG02965.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03225.hp1 HG03471.hp2 HG06807.hp2 NA18522.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0025 a0001c0001t0001g0069 a0001c0001t0001g0072 others(9): Show a0001c0001t0001g0025 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0243 a0001c0001t0003g0007 a0001c0001t0003g0074	17	346	0.0491	-6	c.341 others(23): Show c.341-1058_341-1053delAGTGTG		EPYC	ENSG00000083782.8	transcript	ENST00000261172.8	protein_coding	3/6						chr12	TogoVar
EPYC_chr12_90958682_91009972	90974038	TCACACA TCACACA	T T	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA19060.hp1 NA19063.hp2 NA18962.hp2 NA19060.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	3	346	0.0087	-6	c.341 others(23): Show c.341-1064_341-1059delTGTGTG		EPYC	ENSG00000083782.8	transcript	ENST00000261172.8	protein_coding	3/6						chr12	TogoVar
ERAP1_chr5_96769484_96812945	96783818	TACACAC TACACAC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03098.hp1 HG03130.hp2 others(3): Show HG02572.hp2 HG03098.hp1 HG03130.hp2 HG03195.hp2 HG03471.hp1 HG04204.hp1	a0001 a0016 a0022 a0001 a0016 a0022	a0001c0001 a0016c0021 a0022c0028 a0001c0001 a0016c0021 a0022c0028	a0001c0001t0002 a0016c0021t0013 a0022c0028t0023 a0001c0001t0002 a0016c0021t0013 a0022c0028t0023	a0001c0001t0002g0079 a0001c0001t0002g0109 a0001c0001t0002g0145 others(3): Show a0001c0001t0002g0079 a0001c0001t0002g0109 a0001c0001t0002g0145 a0016c0021t0013g0057 a0016c0021t0013g0058 a0022c0028t0023g0059	6	416	0.0144	-6	c.210 others(23): Show c.2100+100_2100+105delGTGTGT		ERAP1	ENSG00000164307.13	transcript	ENST00000443439.7	protein_coding	14/18						chr5	TogoVar
ERAP1_chr5_96769484_96812945	96806623	CTTTTTT CTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00423.hp1 others(71): Show HG00140.hp2 HG00323.hp2 HG00423.hp1 HG00544.hp2 HG00597.hp1 HG00621.hp2 HG00733.hp2 HG01099.hp2 HG01433.hp2 HG01515.hp1 HG01517.hp2 HG01978.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02300.hp1 HG02698.hp1 HG02717.hp1 HG02735.hp2 HG02895.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03654.hp2 HG03688.hp2 HG03710.hp1 HG04199.hp2 HG06807.hp1 NA18906.hp1 NA18943.hp2 NA18945.hp2 NA18948.hp2 NA18949.hp1 NA18964.hp2 NA18967.hp1 NA18968.hp2 NA18970.hp1 NA18972.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18990.hp1 NA18992.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA19000.hp2 NA19001.hp1 NA19003.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19056.hp1 NA19058.hp1 NA19063.hp1 NA19067.hp2 NA19068.hp2 NA19072.hp2 NA19080.hp1 NA19086.hp1 NA19091.hp2	a0002 a0018 a0002 a0018	a0002c0002 a0002c0020 a0018c0025 a0002c0002 a0002c0020 a0018c0025	a0002c0002t0001 a0002c0002t0003 a0002c0002t0006 others(6): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0006 a0002c0002t0008 a0002c0002t0014 a0002c0002t0018 a0002c0002t0021 a0002c0020t0002 a0018c0025t0001	a0002c0002t0001g0001 a0002c0002t0001g0005 a0002c0002t0001g0016 others(54): Show a0002c0002t0001g0001 a0002c0002t0001g0005 a0002c0002t0001g0016 a0002c0002t0001g0033 a0002c0002t0001g0035 a0002c0002t0001g0215 a0002c0002t0001g0219 a0002c0002t0001g0221 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0317 a0002c0002t0001g0318 a0002c0002t0001g0319 a0002c0002t0001g0320 a0002c0002t0003g0034 a0002c0002t0003g0223 a0002c0002t0003g0224 a0002c0002t0003g0237 a0002c0002t0006g0225 a0002c0002t0006g0260 a0002c0002t0008g0220 a0002c0002t0008g0238 a0002c0002t0008g0252 a0002c0002t0008g0261 a0002c0002t0014g0264 a0002c0002t0018g0250 a0002c0002t0021g0256 a0002c0020t0002g0236 a0002c0020t0002g0251 a0018c0025t0001g0222	74	416	0.1779	-6	c.-18 others(23): Show c.-18+1231_-18+1236delAAAAAA		ERAP1	ENSG00000164307.13	transcript	ENST00000443439.7	protein_coding	1/18						chr5	TogoVar
ERAP1_chr5_96769484_96812945	96808187	CGTGTGT CGTGTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp1 HG01433.hp1 HG01884.hp1 others(17): Show HG01258.hp1 HG01433.hp1 HG01884.hp1 HG01891.hp1 HG02027.hp1 HG02056.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02976.hp1 HG03098.hp1 NA18957.hp1 NA18960.hp1 NA18964.hp1 NA18972.hp1 NA18984.hp1 NA19005.hp2 NA19060.hp2 NA19063.hp1 NA19068.hp2	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0009 a0010 a0016	a0001c0001 a0001c0010 a0002c0002 others(5): Show a0001c0001 a0001c0010 a0002c0002 a0004c0004 a0005c0005 a0009c0009 a0010c0012 a0016c0021	a0001c0001t0001 a0001c0001t0002 a0001c0010t0002 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0010t0002 a0002c0002t0001 a0004c0004t0001 a0005c0005t0001 a0009c0009t0001 a0010c0012t0001 a0016c0021t0013	a0001c0001t0001g0137 a0001c0001t0002g0004 a0001c0001t0002g0088 others(16): Show a0001c0001t0001g0137 a0001c0001t0002g0004 a0001c0001t0002g0088 a0001c0001t0002g0104 a0001c0001t0002g0111 a0001c0001t0002g0131 a0001c0010t0002g0028 a0001c0010t0002g0123 a0002c0002t0001g0001 a0002c0002t0001g0005 a0002c0002t0001g0035 a0002c0002t0001g0244 a0004c0004t0001g0283 a0005c0005t0001g0068 a0005c0005t0001g0071 a0005c0005t0001g0081 a0009c0009t0001g0031 a0010c0012t0001g0302 a0016c0021t0013g0057	20	416	0.0481	-6	c.-35 others(15): Show c.-351_-346delACACAC		ERAP1	ENSG00000164307.13	transcript	ENST00000443439.7	protein_coding					243		chr5	TogoVar
ERAP2_chr5_96871500_96924703	96874174	GAAAGAA GAAAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG01069.hp2 HG01071.hp2 others(30): Show HG00621.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01109.hp2 HG01255.hp2 HG01884.hp1 HG02258.hp1 HG02280.hp1 HG02572.hp1 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02809.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp2 HG03540.hp2 HG06807.hp1 NA18906.hp1 NA18950.hp2 NA19009.hp2 NA19056.hp1 NA19068.hp2 NA19090.hp2 NA19240.hp1	a0000 a0001 a0002 others(4): Show a0000 a0001 a0002 a0007 a0008 a0015 a0017	a0000c0010 a0001c0001 a0001c0004 others(5): Show a0000c0010 a0001c0001 a0001c0004 a0002c0002 a0007c0012 a0008c0009 a0015c0018 a0017c0025	a0000c0010t0014 a0001c0001t0001 a0001c0001t0023 others(6): Show a0000c0010t0014 a0001c0001t0001 a0001c0001t0023 a0001c0004t0006 a0002c0002t0002 a0007c0012t0001 a0008c0009t0025 a0015c0018t0001 a0017c0025t0003	a0000c0010t0014g0026 a0001c0001t0001g0006 a0001c0001t0001g0008 others(24): Show a0000c0010t0014g0026 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0029 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0168 a0001c0001t0001g0175 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0023g0216 a0001c0004t0006g0147 a0001c0004t0006g0224 a0002c0002t0002g0202 a0002c0002t0002g0204 a0007c0012t0001g0152 a0007c0012t0001g0154 a0008c0009t0025g0022 a0015c0018t0001g0210 a0017c0025t0003g0203	33	398	0.0829	-6	c.-24 others(17): Show c.-2475_-2470delAAAGAA		ERAP2	ENSG00000164308.17	transcript	ENST00000437043.8	protein_coding					2325		chr5	TogoVar
ERAP2_chr5_96871500_96924703	96887098	TATACAC TATACAC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02976.hp1 HG03579.hp2 HG02559.hp2 HG02976.hp1 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0241 a0002c0002t0012g0242 a0002c0002t0012g0243 a0002c0002t0012g0241 a0002c0002t0012g0242 a0002c0002t0012g0243	3	398	0.0075	-6	c.849 others(21): Show c.849+311_849+316delTACACA		ERAP2	ENSG00000164308.17	transcript	ENST00000437043.8	protein_coding	4/18					INFO_REALIGN_3_PRIME	chr5	TogoVar

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