Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	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
LMOD1_chr1_201891456_201951548	201924666	AAAGAAAG others(28): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01175.hp2 HG00741.hp1 HG01175.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0025 a0002c0002t0002g0026	2	371	0.0054	-35	c.261 others(54): Show c.261+21379_261+21413delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTT		LMOD1	ENSG00000163431.14	transcript	ENST00000367288.5	protein_coding	1/2						chr1	TogoVar
LOC122513141_chr9_137212494_137224361	137218467	GGAGCGGG others(28): Show GGAGCGGGGACCCTGTGCCCGCCGCCTGGCGCTGCT	G G	frameshift_variant frameshift_variant	HIGH	HG02559.hp2 HG02717.hp1 HG02559.hp2 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0000 a0001c0002t0007g0000	2	388	0.0052	-35	c.476 others(42): Show c.476_510delGGGGACCCTGTGCCCGCCGCCTGGCGCTGCTGAGC	p.Arg others(5): Show p.Arg159fs	LOC122513141	ENSG00000284976.2	transcript	ENST00000645271.2	protein_coding	1/1	979/1868	476/606	159/201		INFO_REALIGN_3_PRIME	chr9	TogoVar
LOC128092246_chr6_53036266_53046385	53037260	AAGGGGCA others(28): Show AAGGGGCAGGGGGAAAGGAGGAGAATAATGAATCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	375	0.0027	-35	c.39 others(46): Show c.3971_*4005delGGGATTCATTATTCTCCTCCTTTCCCCCTGCCCC T		LOC128092246	ENSG00000288614.1	transcript	ENST00000675098.1	protein_coding					4005		chr6	TogoVar
LOC128092248_chr9_130708626_130718724	130718007	TTGTCTCA others(28): Show TTGTCTCAAAAAAAAAAAAAGAAATTCCTGGCTGGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02895.hp1 HG03540.hp1 others(1): Show HG02055.hp1 HG02895.hp1 HG03540.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	4	422	0.0095	-35	c.42 others(46): Show c.4284_*4318delTGTCTCAAAAAAAAAAAAAGAAATTCCTGGCTGG G		LOC128092248	ENSG00000288570.1	transcript	ENST00000674075.1	protein_coding					4284		chr9	TogoVar
LOC400499_chr16_11367015_11532247	11486784	TGGGTGGG others(28): Show TGGGTGGGTGGTTGGATGAATGGATGATGGGCGGGC	T T	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0009 a0009	a0009c0027 a0009c0027	a0009c0027t0001 a0009c0027t0001	a0009c0027t0001g0104 a0009c0027t0001g0104	1	308	0.0032	-35	c.201 others(52): Show c.2013+443_2013+477delGCCCGCCCATCATCCATTCATCCAACCA CCCACCC		LOC400499	ENSG00000188897.10	transcript	ENST00000696174.1	protein_coding	15/66						chr16	TogoVar
LOC400499_chr16_11367015_11532247	11515845	GGCCCGGC others(28): Show GGCCCGGCCCAGCCCAGCCCAGCCCAGCCCAGCCCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(132): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00609.hp2 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01256.hp1 HG01257.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02083.hp1 HG02109.hp1 HG02132.hp2 HG02135.hp2 HG02258.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp2 HG03516.hp1 HG03540.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03927.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18906.hp1 NA18944.hp2 NA18946.hp2 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18955.hp1 NA18956.hp2 NA18969.hp2 NA18975.hp2 NA18980.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA19002.hp1 NA19009.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19079.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0006 a0008 a0009 others(111): Show a0006 a0008 a0009 a0010 a0011 a0012 a0014 a0015 a0016 a0025 a0026 a0027 a0029 a0030 a0033 a0034 a0035 a0038 a0039 a0046 a0049 a0051 a0052 a0053 a0054 a0056 a0057 a0058 a0061 a0063 a0069 a0071 a0072 a0075 a0076 a0077 a0078 a0083 a0084 a0085 a0086 a0091 a0093 a0095 a0097 a0107 a0108 a0112 a0118 a0122 a0124 a0125 a0126 a0127 a0132 a0133 a0134 a0135 a0137 a0138 a0141 a0143 a0144 a0146 a0148 a0151 a0153 a0154 a0155 a0158 a0160 a0161 a0164 a0167 a0170 a0173 a0177 a0178 a0180 a0181 a0185 a0190 a0191 a0192 a0194 a0195 a0196 a0198 a0204 a0206 a0207 a0208 a0209 a0213 a0217 a0218 a0219 a0225 a0229 a0230 a0234 a0236 a0237 a0239 a0240 a0241 a0242 a0243 a0244 a0247 a0249 a0251 a0252 a0254	a0006c0005 a0006c0221 a0008c0006 others(116): Show a0006c0005 a0006c0221 a0008c0006 a0009c0027 a0009c0247 a0010c0007 a0011c0249 a0011c0250 a0012c0028 a0014c0020 a0015c0026 a0016c0022 a0025c0184 a0025c0185 a0026c0024 a0027c0021 a0029c0025 a0030c0029 a0033c0030 a0034c0204 a0034c0205 a0035c0023 a0038c0170 a0039c0243 a0046c0241 a0049c0222 a0051c0245 a0052c0237 a0053c0246 a0054c0256 a0056c0201 a0057c0173 a0058c0226 a0061c0225 a0063c0259 a0069c0215 a0071c0262 a0072c0206 a0075c0252 a0076c0187 a0077c0172 a0078c0265 a0083c0240 a0084c0217 a0085c0251 a0086c0224 a0091c0212 a0093c0033 a0095c0193 a0097c0219 a0107c0266 a0108c0031 a0112c0180 a0118c0194 a0122c0216 a0124c0186 a0125c0203 a0126c0231 a0127c0267 a0132c0169 a0133c0199 a0134c0263 a0135c0197 a0137c0191 a0138c0195 a0141c0183 a0143c0032 a0144c0264 a0146c0182 a0148c0178 a0151c0229 a0153c0189 a0154c0181 a0155c0270 a0158c0179 a0160c0234 a0161c0200 a0164c0230 a0167c0196 a0170c0244 a0173c0223 a0177c0174 a0178c0257 a0180c0258 a0181c0175 a0185c0171 a0190c0242 a0191c0239 a0192c0260 a0194c0269 a0195c0232 a0196c0233 a0198c0190 a0204c0220 a0206c0261 a0207c0268 a0208c0213 a0209c0211 a0213c0207 a0217c0228 a0218c0209 a0219c0214 a0225c0254 a0229c0192 a0230c0176 a0234c0236 a0236c0210 a0237c0208 a0239c0218 a0240c0253 a0241c0235 a0242c0198 a0243c0188 a0244c0177 a0247c0227 a0249c0255 a0251c0248 a0252c0202 a0254c0034	a0006c0005t0003 a0006c0221t0003 a0008c0006t0004 others(118): Show a0006c0005t0003 a0006c0221t0003 a0008c0006t0004 a0008c0006t0005 a0009c0027t0001 a0009c0247t0002 a0010c0007t0004 a0010c0007t0009 a0011c0249t0002 a0011c0250t0004 a0012c0028t0002 a0014c0020t0003 a0015c0026t0002 a0016c0022t0005 a0025c0184t0004 a0025c0185t0002 a0026c0024t0001 a0027c0021t0001 a0029c0025t0006 a0030c0029t0001 a0033c0030t0001 a0034c0204t0001 a0034c0205t0001 a0035c0023t0002 a0038c0170t0003 a0039c0243t0004 a0046c0241t0003 a0049c0222t0002 a0051c0245t0004 a0052c0237t0004 a0053c0246t0002 a0054c0256t0003 a0056c0201t0003 a0057c0173t0003 a0058c0226t0002 a0061c0225t0002 a0063c0259t0005 a0069c0215t0003 a0071c0262t0003 a0072c0206t0004 a0075c0252t0005 a0076c0187t0002 a0077c0172t0004 a0078c0265t0006 a0083c0240t0003 a0084c0217t0003 a0085c0251t0005 a0086c0224t0003 a0091c0212t0001 a0093c0033t0005 a0095c0193t0003 a0097c0219t0001 a0107c0266t0003 a0108c0031t0006 a0112c0180t0005 a0118c0194t0002 a0122c0216t0015 a0124c0186t0005 a0125c0203t0003 a0126c0231t0008 a0127c0267t0003 a0132c0169t0001 a0133c0199t0003 a0134c0263t0003 a0135c0197t0004 a0137c0191t0005 a0138c0195t0002 a0141c0183t0002 a0143c0032t0008 a0144c0264t0007 a0146c0182t0004 a0148c0178t0006 a0151c0229t0014 a0153c0189t0010 a0154c0181t0006 a0155c0270t0002 a0158c0179t0002 a0160c0234t0004 a0161c0200t0002 a0164c0230t0012 a0167c0196t0002 a0170c0244t0004 a0173c0223t0005 a0177c0174t0002 a0178c0257t0003 a0180c0258t0003 a0181c0175t0001 a0185c0171t0003 a0190c0242t0001 a0191c0239t0001 a0192c0260t0001 a0194c0269t0010 a0195c0232t0007 a0196c0233t0002 a0198c0190t0006 a0204c0220t0001 a0206c0261t0003 a0207c0268t0003 a0208c0213t0003 a0209c0211t0004 a0213c0207t0003 a0217c0228t0003 a0218c0209t0001 a0219c0214t0001 a0225c0254t0003 a0229c0192t0007 a0230c0176t0003 a0234c0236t0001 a0236c0210t0001 a0237c0208t0003 a0239c0218t0001 a0240c0253t0004 a0241c0235t0002 a0242c0198t0001 a0243c0188t0005 a0244c0177t0002 a0247c0227t0002 a0249c0255t0002 a0251c0248t0003 a0252c0202t0005 a0254c0034t0002	a0006c0005t0003g0086 a0006c0005t0003g0103 a0006c0005t0003g0188 others(132): Show a0006c0005t0003g0086 a0006c0005t0003g0103 a0006c0005t0003g0188 a0006c0221t0003g0179 a0008c0006t0004g0108 a0008c0006t0005g0053 a0009c0027t0001g0104 a0009c0027t0001g0132 a0009c0247t0002g0085 a0010c0007t0004g0022 a0010c0007t0004g0055 a0010c0007t0009g0096 a0011c0249t0002g0231 a0011c0250t0004g0102 a0012c0028t0002g0043 a0012c0028t0002g0099 a0014c0020t0003g0088 a0014c0020t0003g0089 a0015c0026t0002g0100 a0015c0026t0002g0101 a0016c0022t0005g0229 a0016c0022t0005g0230 a0025c0184t0004g0288 a0025c0185t0002g0168 a0026c0024t0001g0056 a0026c0024t0001g0222 a0027c0021t0001g0033 a0027c0021t0001g0163 a0029c0025t0006g0004 a0029c0025t0006g0005 a0030c0029t0001g0272 a0030c0029t0001g0273 a0033c0030t0001g0153 a0033c0030t0001g0155 a0034c0204t0001g0261 a0034c0205t0001g0232 a0035c0023t0002g0128 a0035c0023t0002g0246 a0038c0170t0003g0161 a0039c0243t0004g0131 a0046c0241t0003g0145 a0049c0222t0002g0083 a0051c0245t0004g0071 a0052c0237t0004g0118 a0053c0246t0002g0119 a0054c0256t0003g0184 a0056c0201t0003g0185 a0057c0173t0003g0016 a0058c0226t0002g0130 a0061c0225t0002g0018 a0063c0259t0005g0117 a0069c0215t0003g0082 a0071c0262t0003g0186 a0072c0206t0004g0266 a0075c0252t0005g0175 a0076c0187t0002g0051 a0077c0172t0004g0183 a0078c0265t0006g0165 a0083c0240t0003g0187 a0084c0217t0003g0107 a0085c0251t0005g0176 a0086c0224t0003g0147 a0091c0212t0001g0129 a0093c0033t0005g0294 a0095c0193t0003g0233 a0097c0219t0001g0106 a0107c0266t0003g0278 a0108c0031t0006g0285 a0112c0180t0005g0148 a0118c0194t0002g0031 a0122c0216t0015g0310 a0124c0186t0005g0044 a0125c0203t0003g0177 a0126c0231t0008g0283 a0127c0267t0003g0262 a0132c0169t0001g0080 a0133c0199t0003g0144 a0134c0263t0003g0282 a0135c0197t0004g0059 a0137c0191t0005g0158 a0138c0195t0002g0141 a0141c0183t0002g0058 a0143c0032t0008g0303 a0144c0264t0007g0274 a0146c0182t0004g0286 a0148c0178t0006g0028 a0151c0229t0014g0308 a0153c0189t0010g0046 a0154c0181t0006g0287 a0155c0270t0002g0292 a0158c0179t0002g0017 a0160c0234t0004g0195 a0161c0200t0002g0162 a0164c0230t0012g0224 a0167c0196t0002g0300 a0170c0244t0004g0190 a0173c0223t0005g0275 a0177c0174t0002g0211 a0178c0257t0003g0181 a0180c0258t0003g0180 a0181c0175t0001g0212 a0185c0171t0003g0098 a0190c0242t0001g0084 a0191c0239t0001g0236 a0192c0260t0001g0138 a0194c0269t0010g0290 a0195c0232t0007g0226 a0196c0233t0002g0306 a0198c0190t0006g0159 a0204c0220t0001g0149 a0206c0261t0003g0124 a0207c0268t0003g0271 a0208c0213t0003g0225 a0209c0211t0004g0192 a0213c0207t0003g0238 a0217c0228t0003g0259 a0218c0209t0001g0126 a0219c0214t0001g0127 a0225c0254t0003g0257 a0229c0192t0007g0026 a0230c0176t0003g0027 a0234c0236t0001g0105 a0236c0210t0001g0191 a0237c0208t0003g0081 a0239c0218t0001g0097 a0240c0253t0004g0264 a0241c0235t0002g0070 a0242c0198t0001g0150 a0243c0188t0005g0196 a0244c0177t0002g0010 a0247c0227t0002g0021 a0249c0255t0002g0049 a0251c0248t0003g0284 a0252c0202t0005g0143 a0254c0034t0002g0112	135	307	0.4397	-35	c.654 others(48): Show c.654+49_654+83delTGGGCTGGGCTGGGCTGGGCTGGGCTGGGCCG GGC		LOC400499	ENSG00000188897.10	transcript	ENST00000696174.1	protein_coding	6/66						chr16	TogoVar
LPAR1_chr9_110868263_111043470	111001945	CAATACCC others(28): Show CAATACCCTGGATAAAAACTTCCAAAATGACTAATA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18940.hp1 NA18999.hp2 HG00438.hp2 NA18940.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0095 a0001c0001t0001g0241 a0001c0001t0002g0195 a0001c0001t0001g0095 a0001c0001t0001g0241 a0001c0001t0002g0195	3	300	0.0100	-35	c.-18 others(56): Show c.-181-28422_-181-28388delTATTAGTCATTTTGGAAGTTTTTA TCCAGGGTATT		LPAR1	ENSG00000198121.15	transcript	ENST00000683809.1	protein_coding	2/5						chr9	TogoVar
LRBA_chr4_150259435_151020284	150805570	GGAAAGGA others(28): Show GGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02897.hp1 HG02922.hp2 HG02647.hp1 HG02897.hp1 HG02922.hp2	a0001 a0014 a0001 a0014	a0001c0001 a0014c0025 a0001c0001 a0014c0025	a0001c0001t0001 a0014c0025t0001 a0001c0001t0001 a0014c0025t0001	a0001c0001t0001g0176 a0001c0001t0001g0178 a0014c0025t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0178 a0014c0025t0001g0172	3	178	0.0169	-35	c.551 others(52): Show c.5518+666_5518+700delTTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTC		LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	33/56						chr4	TogoVar
LRCOL1_chr12_132598151_132615582	132598888	TCACGGCT others(28): Show TCACGGCTGAACCTCCACTGGGCAGCTGTGCGGAGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	388	0.0026	-35	c.44 others(46): Show c.4479_*4513delTCTCCGCACAGCTGCCCAGTGGAGGTTCAGCCGT G		LRCOL1	ENSG00000204583.10	transcript	ENST00000376608.9	protein_coding					4262		chr12	TogoVar
LRP1B_chr2_140226423_142136016	141212249	ATTTTTTT others(28): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0016 a0001c0019t0001g0016	1	2	0.5000	-35	c.850 others(54): Show c.850+16899_850+16933delAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA		LRP1B	ENSG00000168702.18	transcript	ENST00000389484.8	protein_coding	6/90						chr2	TogoVar
LRP1B_chr2_140226423_142136016	141554192	GTTATATA others(28): Show GTTATATATATCTATAGGAATAGACCTAGATATAGA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02559.hp2 HG02723.hp2 others(2): Show HG02451.hp2 HG02559.hp2 HG02723.hp2 HG02922.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0012 others(2): Show a0001c0002 a0001c0008 a0001c0012 a0001c0014 a0001c0028	a0001c0002t0010 a0001c0008t0001 a0001c0012t0003 others(2): Show a0001c0002t0010 a0001c0008t0001 a0001c0012t0003 a0001c0014t0004 a0001c0028t0002	a0001c0002t0010g0022 a0001c0008t0001g0008 a0001c0012t0003g0005 others(2): Show a0001c0002t0010g0022 a0001c0008t0001g0008 a0001c0012t0003g0005 a0001c0014t0004g0001 a0001c0028t0002g0020	5	28	0.1786	-35	c.206 others(54): Show c.206-73694_206-73660delTCTATATCTAGGTCTATTCCTATAGA TATATATAA		LRP1B	ENSG00000168702.18	transcript	ENST00000389484.8	protein_coding	2/90						chr2	TogoVar
LRP2_chr2_169122109_169367534	169299059	GAAAGAAA others(28): Show GAAAGAAAGAAGGAAAGAAAGAAAGAAGGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0003 a0003	a0003c0019 a0003c0019	a0003c0019t0007 a0003c0019t0007	a0003c0019t0007g0043 a0003c0019t0007g0043	1	245	0.0041	-35	c.428 others(52): Show c.428-4384_428-4350delTTTCTTTCCTTCTTTCTTTCTTTCCTTC TTTCTTT		LRP2	ENSG00000081479.15	transcript	ENST00000649046.1	protein_coding	4/78						chr2	TogoVar
LRP2_chr2_169122109_169367534	169357289	TTTTTATT others(28): Show TTTTTATTTTATTTTATTTTATTTTATTTTATTTTA	T T	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0074 a0001c0074	a0001c0074t0001 a0001c0074t0001	a0001c0074t0001g0093 a0001c0074t0001g0093	1	114	0.0088	-35	c.79+ others(50): Show c.79+4997_79+5031delTAAAATAAAATAAAATAAAATAAAATAAAA TAAAA		LRP2	ENSG00000081479.15	transcript	ENST00000649046.1	protein_coding	1/78						chr2	TogoVar
LRP8_chr1_53237364_53333070	53299099	GGTGGAGC others(28): Show GGTGGAGCGAATGATTGAGTGATGACCCCTGCCTGT	G G	intron_variant intron_variant	MODIFIER	HG02895.hp2 NA18985.hp1 HG02895.hp2 NA18985.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0003 a0001c0004 a0002c0003	a0001c0004t0066 a0002c0003t0002 a0001c0004t0066 a0002c0003t0002	a0001c0004t0066g0273 a0002c0003t0002g0050 a0001c0004t0066g0273 a0002c0003t0002g0050	2	294	0.0068	-35	c.245 others(52): Show c.245-9445_245-9411delACAGGCAGGGGTCATCACTCAATCATTC GCTCCAC		LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	2/18						chr1	TogoVar
LRRC3C_chr17_39922732_39949999	39932647	AAGGAATT others(28): Show AAGGAATTCGAGGCTGCAGTGAGTTATGATCTCGCT	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0104 a0001c0002t0001g0104	1	402	0.0025	-35	c.-17 others(54): Show c.-174-3118_-174-3084delGGAATTCGAGGCTGCAGTGAGTTATG ATCTCGCTA		LRRC3C	ENSG00000204913.7	transcript	ENST00000377924.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr17	TogoVar
LRRC8A_chr9_128877133_128923039	128887400	GAGATGCT others(28): Show GAGATGCTCCTGCCTTGGCCTCCTAAAGTGCTGGGA	G G	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0152 a0001c0001t0003g0152	1	342	0.0029	-35	c.-9+ others(50): Show c.-9+1280_-9+1314delAGATGCTCCTGCCTTGGCCTCCTAAAGTGC TGGGA		LRRC8A	ENSG00000136802.12	transcript	ENST00000372600.9	protein_coding	2/3						chr9	TogoVar
LRRK2_chr12_40219997_40374285	40282009	GCTTCCCT others(28): Show GCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCC	G G	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0215 a0001c0005t0005g0215	1	114	0.0088	-35	c.224 others(54): Show c.2242-1821_2242-1787delCCTTCCCTTCCCTTCCCTTCCCTTCC CTTCCCTTC		LRRK2	ENSG00000188906.17	transcript	ENST00000298910.12	protein_coding	18/50					INFO_REALIGN_3_PRIME	chr12	TogoVar
LRRTM4_chr2_76742685_77527376	77217333	GTTATTAA others(28): Show GTTATTAATTTAATTATATTAATTAATTATATTAAT	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG00621.hp1 others(97): Show HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00735.hp1 HG00735.hp2 HG01074.hp1 HG01074.hp2 HG01109.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01261.hp1 HG01346.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02965.hp1 HG02965.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18953.hp2 NA18961.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18970.hp2 NA18983.hp1 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA20129.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(97): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0002g0008 a0001c0001t0002g0015 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0040 a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0002g0059 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0075 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0111 a0001c0001t0002g0114 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0121 a0001c0001t0002g0124 a0001c0001t0002g0127 a0001c0001t0003g0031 a0001c0001t0003g0042 a0001c0001t0003g0047 a0001c0001t0003g0054 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0066 a0001c0001t0003g0074 a0001c0001t0003g0085 a0001c0001t0003g0088 a0001c0001t0003g0090 a0001c0001t0003g0093 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0112 a0001c0001t0003g0117 a0001c0001t0004g0013 a0001c0001t0004g0025 a0001c0001t0004g0027 a0001c0001t0004g0037 a0001c0001t0004g0045 a0001c0001t0004g0058 a0001c0001t0004g0073 a0001c0001t0004g0095 a0001c0001t0004g0115 a0001c0001t0005g0026 a0001c0001t0005g0091 a0001c0001t0006g0034 a0001c0001t0008g0126 a0001c0001t0009g0055 a0001c0001t0010g0067 a0001c0001t0011g0120 a0001c0001t0012g0128	100	128	0.7813	-35	c.155 others(58): Show c.1551+300950_1551+300984delATTAATATAATTAATTAATATA ATTAAATTAATAA		LRRTM4	ENSG00000176204.14	transcript	ENST00000409884.6	protein_coding	3/3						chr2	TogoVar
LRRTM4_chr2_76742685_77527376	77307527	TAATATAT others(28): Show TAATATATAGATATATCTATATATTATAGAAATATA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp2 HG00621.hp1 others(25): Show HG00438.hp1 HG00558.hp2 HG00621.hp1 HG00735.hp2 HG01074.hp2 HG01192.hp2 HG01496.hp2 HG01516.hp2 HG02145.hp2 HG02523.hp1 HG02630.hp1 HG02723.hp2 HG02738.hp2 HG03490.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03834.hp2 HG03927.hp2 HG04199.hp1 HG04204.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18961.hp1 NA18968.hp1 NA18970.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0023 others(25): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0023 a0001c0001t0001g0039 a0001c0001t0001g0046 a0001c0001t0001g0064 a0001c0001t0001g0071 a0001c0001t0001g0076 a0001c0001t0002g0021 a0001c0001t0002g0030 a0001c0001t0002g0040 a0001c0001t0002g0063 a0001c0001t0002g0103 a0001c0001t0002g0110 a0001c0001t0002g0114 a0001c0001t0003g0031 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0066 a0001c0001t0003g0074 a0001c0001t0003g0098 a0001c0001t0003g0112 a0001c0001t0004g0013 a0001c0001t0004g0025 a0001c0001t0004g0027 a0001c0001t0004g0045 a0001c0001t0004g0094 a0001c0001t0004g0115	28	114	0.2456	-35	c.155 others(58): Show c.1551+210756_1551+210790delTATATTTCTATAATATATAGAT ATATCTATATATT		LRRTM4	ENSG00000176204.14	transcript	ENST00000409884.6	protein_coding	3/3						chr2	TogoVar
LRRTM4_chr2_76742685_77527376	77307682	TCTATATA others(28): Show TCTATATATTATAGAAATATAAATATATAGATATAC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp1 HG02486.hp1 others(1): Show HG01243.hp1 HG01884.hp1 HG02486.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0017 a0001c0001t0002g0008 a0001c0001t0002g0086 others(1): Show a0001c0001t0001g0017 a0001c0001t0002g0008 a0001c0001t0002g0086 a0001c0001t0003g0088	4	106	0.0377	-35	c.155 others(58): Show c.1551+210601_1551+210635delGTATATCTATATATTTATATTT CTATAATATATAG		LRRTM4	ENSG00000176204.14	transcript	ENST00000409884.6	protein_coding	3/3						chr2	TogoVar
LSM5_chr7_32480338_32495380	32494851	GATATTCT others(28): Show GATATTCTGTTTCAGGTTTTAAATGCGTCTCAGATT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	442	0.0023	-35	c.-45 others(46): Show c.-4521_-4487delAATCTGAGACGCATTTAAAACCTGAAACAGAATA T		LSM5	ENSG00000106355.10	transcript	ENST00000450169.7	protein_coding					4472		chr7	TogoVar
LSM8_chr7_118179164_118209035	118206981	TATATATA others(28): Show TATATATATATATATATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	412	0.0024	-35	c.14 others(48): Show c.14980_*15014delATATATATATATATATATATATATATATATAT ATA		LSM8	ENSG00000128534.8	transcript	ENST00000249299.7	protein_coding					2947		chr7	TogoVar
LY6D_chr8_142779882_142791539	142791273	GAACTCCT others(28): Show GAACTCCTGGGTTCTCCCCTCTGCTAGGCCACAGCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	432	0.0023	-35	c.-47 others(46): Show c.-4792_-4758delAGCTGTGGCCTAGCAGAGGGGAGAACCCAGGAGT T		LY6D	ENSG00000167656.5	transcript	ENST00000301263.5	protein_coding					4735		chr8	TogoVar
LY96_chr8_73986392_74034079	73996385	CTTTCTTT others(28): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0177 a0001c0001t0002g0177	1	311	0.0032	-35	c.112 others(52): Show c.112+4832_112+4866delTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTT		LY96	ENSG00000154589.7	transcript	ENST00000284818.7	protein_coding	1/4						chr8	TogoVar
LYPD5_chr19_43790927_43807447	43804363	GGAATAAC others(28): Show GGAATAACTCCATGTGATGGACACATCCCATTGACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(123): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp2 HG00597.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01106.hp1 HG01175.hp1 HG01192.hp2 HG01257.hp1 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02132.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02602.hp2 HG02615.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02738.hp1 HG02738.hp2 HG02976.hp2 HG03195.hp1 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03540.hp2 HG03704.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG06807.hp1 NA18940.hp1 NA18940.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18948.hp2 NA18949.hp2 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18957.hp1 NA18964.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18977.hp1 NA18978.hp1 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp2 NA18985.hp1 NA18989.hp2 NA18992.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19002.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19058.hp1 NA19060.hp1 NA19067.hp2 NA19075.hp2 NA19077.hp1 NA19078.hp1 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19087.hp2 NA19090.hp2 NA19091.hp1 NA20300.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0001 a0003c0003 others(1): Show a0001c0002 a0002c0001 a0003c0003 a0003c0011	a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 others(11): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0022 a0002c0001t0002 a0002c0001t0006 a0002c0001t0007 a0002c0001t0018 a0002c0001t0019 a0003c0003t0001 a0003c0003t0003 a0003c0003t0017 a0003c0003t0020 a0003c0011t0001	a0001c0002t0001g0087 a0001c0002t0003g0006 a0001c0002t0003g0061 others(24): Show a0001c0002t0001g0087 a0001c0002t0003g0006 a0001c0002t0003g0061 a0001c0002t0003g0062 a0001c0002t0003g0091 a0001c0002t0005g0069 a0001c0002t0022g0063 a0002c0001t0002g0001 a0002c0001t0006g0010 a0002c0001t0007g0030 a0002c0001t0018g0097 a0002c0001t0019g0096 a0003c0003t0001g0002 a0003c0003t0001g0013 a0003c0003t0001g0023 a0003c0003t0001g0034 a0003c0003t0001g0035 a0003c0003t0001g0036 a0003c0003t0001g0082 a0003c0003t0001g0083 a0003c0003t0001g0085 a0003c0003t0001g0089 a0003c0003t0001g0090 a0003c0003t0003g0033 a0003c0003t0017g0048 a0003c0003t0020g0086 a0003c0011t0001g0084	126	426	0.2958	-35	c.-20 others(46): Show c.-2018_-1984delTGTCAATGGGATGTGTCCATCACATGGAGTTATT C		LYPD5	ENSG00000159871.15	transcript	ENST00000377950.8	protein_coding					1917		chr19	TogoVar
LYPD8_chr1_248734415_248760759	248742468	GTTATGCT others(28): Show GTTATGCTCTGGTGGGGATGTTGGCAGCCGGGGAGA	G G	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	284	0.0035	-35	c.475 others(52): Show c.475+2639_476-2620delTCTCCCCGGCTGCCAACATCCCCACCAG AGCATAA		LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	6/6						chr1	TogoVar
LYPD8_chr1_248734415_248760759	248742599	TCGGGGGA others(28): Show TCGGGGGAGATTATGCTCTGGTGGGGATGTTGGCAG	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02723.hp2 HG03041.hp1 others(2): Show HG02615.hp2 HG02723.hp2 HG03041.hp1 HG03098.hp2 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0008 a0002c0002t0003g0008	5	371	0.0135	-35	c.475 others(52): Show c.475+2508_475+2542delCTGCCAACATCCCCACCAGAGCATAATC TCCCCCG		LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	6/6						chr1	TogoVar
LYPD8_chr1_248734415_248760759	248742647	TGCTCTGG others(28): Show TGCTCTGGTGGGGATGTTGGCAGCCGGGGAGATTAC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	362	0.0028	-35	c.475 others(52): Show c.475+2460_475+2494delGTAATCTCCCCGGCTGCCAACATCCCCA CCAGAGC		LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	6/6						chr1	TogoVar
LYPD8_chr1_248734415_248760759	248742706	GGGGGAGA others(28): Show GGGGGAGATTATGCTCTGGTGGGGATGTTGGCAGCC	G G	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02970.hp2 NA19030.hp1 HG02717.hp1 HG02970.hp2 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0207 a0002c0002t0003g0208 a0002c0002t0003g0209 a0002c0002t0003g0207 a0002c0002t0003g0208 a0002c0002t0003g0209	3	370	0.0081	-35	c.475 others(52): Show c.475+2401_475+2435delGGCTGCCAACATCCCCACCAGAGCATAA TCTCCCC		LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	6/6						chr1	TogoVar
LYPD8_chr1_248734415_248760759	248751825	CTCAACCT others(28): Show CTCAACCTGCAGCACTAAATCAGAGTCCCCCATGCA	C C	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	372	0.0027	-35	c.-49 others(50): Show c.-49-730_-49-696delTGCATGGGGGACTCTGATTTAGTGCTGCAG GTTGA		LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	2/6						chr1	TogoVar
LYRM7_chr5_131165944_131210428	131181381	AATATATA others(28): Show AATATATACATATATATTATATATACATATATATGT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	242	0.0041	-35	c.92- others(48): Show c.92-847_92-813delATATATACATATATATTATATATACATATATA TGT		LYRM7	ENSG00000186687.16	transcript	ENST00000379380.9	protein_coding	2/4						chr5	TogoVar
MAD1L1_chr7_1810795_2237945	1986474	AGTTCTAC others(28): Show AGTTCTACTCCGCGGCTCCCTCGCGCCGGCAAGGGG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01891.hp1 HG02257.hp2 HG00642.hp2 HG01891.hp1 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0131 a0001c0001t0001g0223 a0001c0001t0001g0082 a0001c0001t0001g0131 a0001c0001t0001g0223	3	206	0.0146	-35	c.141 others(54): Show c.1417-5968_1417-5934delCCCCTTGCCGGCGCGAGGGAGCCGCG GAGTAGAAC		MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	14/18						chr7	TogoVar
MAEA_chr4_1284891_1345137	1317083	CCCCACAC others(28): Show CCCCACACTCCACACTCACCTGCAGGCCCACCCGGT	C C	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0279 a0001c0001t0014g0279	1	386	0.0026	-35	c.456 others(52): Show c.456+1495_456+1529delCACTCACCTGCAGGCCCACCCGGTCCCA CACTCCA		MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr4	TogoVar
MAEA_chr4_1284891_1345137	1324826	GTGGATGA others(28): Show GTGGATGAGCGTGCCTGGTGTTGGATGAGTTGAGAT	G G	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19064.hp2 NA19009.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0187 a0001c0001t0001g0182 a0001c0001t0001g0187	2	385	0.0052	-35	c.579 others(52): Show c.579+2421_579+2455delGTTGAGATTGGATGAGCGTGCCTGGTGT TGGATGA		MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr4	TogoVar
MAEA_chr4_1284891_1345137	1333817	ACCCACCC others(28): Show ACCCACCCCATGCCCACCGTGTGCTCACCCCCCTGC	A A	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0069 a0001c0002t0001g0069	1	293	0.0034	-35	c.765 others(50): Show c.765+955_765+989delCACCCCATGCCCACCGTGTGCTCACCCCCC TGCCC		MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr4	TogoVar
MAGI2_chr7_78012055_79458667	78728540	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0011 a0001c0003t0001g0011	1	5	0.2000	-35	c.419 others(56): Show c.419-101336_419-101302delAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA		MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	2/21						chr7	TogoVar
MAK_chr6_10757723_10843539	10786796	ACTAATTC others(28): Show ACTAATTCACCAGTTCACCTCCTATTCACCACTCCG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	237	0.0042	-35	c.131 others(54): Show c.1317-2259_1317-2225delCGGAGTGGTGAATAGGAGGTGAACTG GTGAATTAG		MAK	ENSG00000111837.12	transcript	ENST00000354489.7	protein_coding	10/14						chr6	TogoVar
MAK_chr6_10757723_10843539	10787045	ATGCACCA others(28): Show ATGCACCAGTTCACCTCCTATTCACCACTCCGCTAC	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02145.hp1 HG02683.hp1 others(2): Show HG01074.hp1 HG02145.hp1 HG02683.hp1 HG03486.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0003 a0001c0001t0004 a0001c0002t0003	a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0002t0003g0096 others(2): Show a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0002t0003g0096 a0001c0002t0003g0124 a0001c0002t0003g0134	5	270	0.0185	-35	c.131 others(54): Show c.1317-2508_1317-2474delGTAGCGGAGTGGTGAATAGGAGGTGA ACTGGTGCA		MAK	ENSG00000111837.12	transcript	ENST00000354489.7	protein_coding	10/14						chr6	TogoVar
MAK_chr6_10757723_10843539	10813114	ATATATAT others(28): Show ATATATATATATATATATATAAATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0202 a0001c0001t0002g0202	1	257	0.0039	-35	c.358 others(50): Show c.358+495_358+529delAAAAAAAAAAAAATTTATATATATATATAT ATATA		MAK	ENSG00000111837.12	transcript	ENST00000354489.7	protein_coding	5/14						chr6	TogoVar
MAML2_chr11_95971598_96348195	96335672	ATATGAAG others(28): Show ATATGAAGGATTATTATTGCATCATAGCTGTTGATT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0079 a0001c0002t0002g0079	1	228	0.0044	-35	c.513 others(52): Show c.513+5676_513+5710delAATCAACAGCTATGATGCAATAATAATC CTTCATA		MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4						chr11	TogoVar
MAP2K7_chr19_7898877_7919478	7908965	ACCCGCTG others(28): Show ACCCGCTGTAGCATGCCCGAGCTGCCCGCATGCAGG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0141 a0001c0001t0004g0141	1	432	0.0023	-35	c.125 others(50): Show c.125-788_125-754delCCGCTGTAGCATGCCCGAGCTGCCCGCATG CAGGC		MAP2K7	ENSG00000076984.18	transcript	ENST00000397979.4	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr19	TogoVar
MAP3K10_chr19_40186426_40220575	40191547	GAGGGGCG others(28): Show GAGGGGCGCGCCACCCCGGCCCGGGGCGGCCGCCCC	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0161 a0001c0001t0005g0161	1	396	0.0025	-35	c.-47 others(44): Show c.-478_-444delGCGCCACCCCGGCCCGGGGCGGCCGCCCCAGGGGC		MAP3K10	ENSG00000130758.8	transcript	ENST00000253055.8	protein_coding	1/10				444	INFO_REALIGN_3_PRIME	chr19	TogoVar
MAPT_chr17_45889554_46033334	45904089	TTATATAT others(28): Show TTATATATTATATATATTTATATATATTATATATTA	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0014 a0014	a0014c0019 a0014c0019	a0014c0019t0005 a0014c0019t0005	a0014c0019t0005g0189 a0014c0019t0005g0189	1	252	0.0040	-35	c.-18 others(52): Show c.-18+9409_-18+9443delATTATATATATTTATATATATTATATAT TATATAT		MAPT	ENSG00000186868.18	transcript	ENST00000262410.10	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr17	TogoVar
MARCHF1_chr4_163519718_164389019	163847549	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02293.hp2 NA18944.hp2 others(5): Show HG02165.hp2 HG02293.hp2 NA18944.hp2 NA18963.hp1 NA18969.hp1 NA18984.hp1 NA19066.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0001c0002t0003 a0001c0008t0012	a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0076 others(5): Show a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0076 a0001c0001t0001g0089 a0001c0001t0004g0057 a0001c0002t0002g0080 a0001c0002t0003g0082 a0001c0008t0012g0026	8	10	0.8000	-35	c.111 others(52): Show c.111+6437_111+6471delAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA		MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	4/9						chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164313014	CTGAAAAA others(28): Show CTGAAAAAAATCAATAAAAATATTTCTTTAAAAACG	C C	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0070 a0001c0001t0020g0070	1	102	0.0098	-35	c.-32 others(56): Show c.-323+70821_-323+70855delCGTTTTTAAAGAAATATTTTTATT GATTTTTTTCA		MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9						chr4	TogoVar
MARCHF6_chr5_10348695_10445388	10435667	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATTTTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01257.hp1 HG01952.hp1 HG01257.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0270 a0001c0001t0001g0271	2	281	0.0071	-35	c.19 others(46): Show c.1985_*2019delATATATATATATATATATATATATATATATTTTT T		MARCHF6	ENSG00000145495.17	transcript	ENST00000274140.10	protein_coding	26/26				1985	INFO_REALIGN_3_PRIME	chr5	TogoVar
MB21D2_chr3_192791815_192922856	192828591	CATATATA others(28): Show CATATATATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02074.hp1 HG02129.hp2 others(4): Show HG02015.hp1 HG02074.hp1 HG02129.hp2 HG02165.hp2 HG03834.hp1 NA18906.hp1 NA18941.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0010 a0001c0001 a0001c0002 a0002c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0003 a0002c0010t0001	a0001c0001t0001g0031 a0001c0001t0001g0066 a0001c0001t0002g0231 others(4): Show a0001c0001t0001g0031 a0001c0001t0001g0066 a0001c0001t0002g0231 a0001c0001t0002g0277 a0001c0001t0005g0261 a0001c0002t0003g0018 a0002c0010t0001g0047	7	55	0.1273	-35	c.212 others(54): Show c.212-28976_212-28942delTATATATATATATATATATATATATA TATATATAT		MB21D2	ENSG00000180611.7	transcript	ENST00000392452.3	protein_coding	1/1						chr3	TogoVar
MB21D2_chr3_192791815_192922856	192828593	TATATATA others(28): Show TATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	255	0.0039	-35	c.212 others(54): Show c.212-28978_212-28944delTATATATATATATATATATATATATA TATATATAT		MB21D2	ENSG00000180611.7	transcript	ENST00000392452.3	protein_coding	1/1						chr3	TogoVar
MBD1_chr18_50263846_50286523	50277492	GAACACAA others(28): Show GAACACAAATATATTATATTTGTGTTATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	400	0.0025	-35	c.111 others(50): Show c.111-323_111-289delATATATATATAACACAAATATAATATATTT GTGTT		MBD1	ENSG00000141644.19	transcript	ENST00000269468.10	protein_coding	2/16						chr18	TogoVar
MBLAC1_chr7_100121967_100133495	100131234	TTTTTCTT others(28): Show TTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00673.hp1 HG00733.hp1 others(40): Show HG00280.hp2 HG00673.hp1 HG00733.hp1 HG01070.hp1 HG01099.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp2 HG01255.hp2 HG01257.hp1 HG01517.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp1 HG02486.hp2 HG02630.hp1 HG02717.hp1 HG02738.hp2 HG02895.hp1 HG02897.hp1 HG02965.hp2 HG03516.hp2 HG03654.hp2 HG03669.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 NA18943.hp1 NA18959.hp2 NA18960.hp1 NA18965.hp1 NA18990.hp2 NA18993.hp1 NA18998.hp1 NA19012.hp2 NA19068.hp1 NA19091.hp2 NA20129.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0006t0001g0001 a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0006t0001g0001	43	52	0.8269	-35	c.30 others(46): Show c.3039_*3073delTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT C		MBLAC1	ENSG00000214309.5	transcript	ENST00000398075.4	protein_coding					2740		chr7	TogoVar

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