Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
LOC128462377_chr16_89312046_89423292	89400373	ACGGTCAT others(183): Show ACGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGACGGTCATCTGC TGCCCCAGGCTTCCCTGCGCTGGGGGACGGTCATCTGCTGCCCCAGGCTT CCCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGG GGATGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00741.hp2 others(25): Show HG00099.hp1 HG00140.hp2 HG00741.hp2 HG01106.hp1 HG01257.hp1 HG01261.hp2 HG01346.hp1 HG01884.hp1 HG02015.hp2 HG02451.hp1 HG02451.hp2 HG02723.hp1 HG02895.hp1 HG03041.hp2 HG03471.hp2 HG03704.hp1 HG03834.hp1 NA18906.hp2 NA18946.hp1 NA18947.hp2 NA18950.hp2 NA18964.hp2 NA18990.hp1 NA18993.hp1 NA19000.hp1 NA19010.hp1 NA19012.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0032 a0001c0001t0001g0039 others(25): Show a0001c0001t0001g0013 a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0064 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0087 a0001c0001t0001g0094 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0159 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0202 a0001c0001t0001g0212 a0001c0001t0001g0219	28	352	0.0795	-190	c.9+1 others(15): Show c.9+17721_9+17910del	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1			chr16	TogoVar
LOC128462377_chr16_89312046_89423292	89400525	ATGGTCAT others(183): Show ATGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATCTGC TGCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGGCTT CCCTGCGCTGGGGGATGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGG GGCCGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGC	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02258.hp2 HG02897.hp1 others(3): Show HG02145.hp2 HG02258.hp2 HG02897.hp1 HG03225.hp1 HG03516.hp2 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0068 a0001c0001t0001g0097 others(3): Show a0001c0001t0001g0034 a0001c0001t0001g0068 a0001c0001t0001g0097 a0001c0001t0001g0136 a0001c0001t0001g0153 a0001c0001t0001g0206	6	331	0.0181	-190	c.9+1 others(15): Show c.9+17569_9+17758del	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1			chr16	TogoVar
MAN1C1_chr1_25611791_25789450	25767731	ACACACAG others(183): Show ACACACAGACCCACACACCCACACTCCCCTCACATAATCCACACTCCCCT AACACACACGCATTACACACTCCCCTCACGTACATCCACACTCCCCTCAC ACACACTACACACACATTACATACACTCCCCCCACACACTCCCCTCACAT ACATTCACACTCCCCTCATACACACACATTACACACTCCCC	A A	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02451.hp1 HG02717.hp2 others(3): Show HG01255.hp1 HG02451.hp1 HG02717.hp2 HG02809.hp2 HG03225.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0143 a0001c0001t0001g0144 others(3): Show a0001c0001t0001g0004 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147	6	248	0.0242	-190	c.114 others(19): Show c.1141+3800_1142-3701del	MAN1C1	ENSG00000117643.16	transcript	ENST00000374332.9	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAP3K15_chrX_19355059_19520508	19452218	GAGAAGAG others(183): Show GAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA GAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA GAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAAGAGAAGAGAAGAGA AGAGAAGAGAGAAAAGAAAAGAGAAAAGAAAAGAAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01070.hp1 HG01071.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0009	a0002c0003t0009g0154 a0002c0003t0009g0155 a0002c0003t0009g0154 a0002c0003t0009g0155	2	160	0.0125	-190	c.995 others(17): Show c.995+4505_995+4694del	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	6/28			chrX	TogoVar
MAP3K4_chr6_160986769_161122380	161090607	ATGGAGGG others(183): Show ATGGAGGGCCGTCCTGCGCATTGTAGGATGTTTAGAGCCAGGGCAGGGCT TCTCAGCCTCTTGGATGTGGACGTTTGGGCCCGTAATTCTTGGTCGTGGA GGGCCGCCCTGCGCATTGTAGGATGTTTAGAGCCAGGGCAGGGCTTCTCA GCCTCTTGGATGTGGACGTTTGGGCCCGTAACTCTTGGTCG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(237): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01169.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01884.hp2 HG01928.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp2 NA19030.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp2 NA19076.hp1 NA19079.hp1 NA19079.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2	a0001 a0005 a0009 others(1): Show a0001 a0005 a0009 a0013	a0001c0001 a0001c0007 a0001c0014 others(4): Show a0001c0001 a0001c0007 a0001c0014 a0001c0016 a0005c0006 a0009c0020 a0013c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0007t0001 a0001c0014t0001 a0001c0016t0001 a0005c0006t0001 a0009c0020t0001 a0013c0013t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0010 others(230): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0296 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0032 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0057 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0090 a0001c0001t0002g0096 a0001c0001t0002g0103 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0005g0161 a0001c0001t0006g0039 a0001c0001t0007g0295 a0001c0007t0001g0248 a0001c0007t0001g0252 a0001c0014t0001g0154 a0001c0016t0001g0011 a0005c0006t0001g0031 a0005c0006t0001g0038 a0005c0006t0001g0040 a0009c0020t0001g0179 a0013c0013t0001g0269	240	340	0.7059	-190	c.297 others(17): Show c.2974-737_2974-548del	MAP3K4	ENSG00000085511.20	transcript	ENST00000392142.9	protein_coding	11/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
MARS1_chr12_57483068_57521652	57493667	ATTATATA others(183): Show ATTATATATATTATATATAATATATATTATATATTATAATATATTATATA TTATATATTATATTATATAATATATATTATATACATTATATTATATATAT TATATATAATATATATTATATATTATATATTATATTATATAATGTATATT ATATATATTATATTATATATTATAATATATAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	285	0.0035	-190	c.770 others(17): Show c.770+3030_770+3219del	MARS1	ENSG00000166986.15	transcript	ENST00000262027.10	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
MCRIP1_chr17_81817361_81838291	81818737	CATAGTGA others(183): Show CATAGTGACTTGTGTGTGCACGCCAACACTACACGGCAGATAGTGACTTG TGTGTGCACGCCAACACTACACGGCAGATAGTGACTTGTGTGTGCACGCC AACACTACACGGCAGATAGTGACTTGTGTGTGCACGCCAACACTACACGG CAGATAGTGACTTGTGTGTGCACGCCAACACTACACGGCAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00597.hp2 others(48): Show HG00438.hp1 HG00438.hp2 HG00597.hp2 HG00642.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01106.hp1 HG01167.hp2 HG01192.hp2 HG01346.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG02132.hp2 HG02155.hp2 HG02257.hp2 HG02300.hp1 HG02486.hp1 NA18747.hp1 NA18946.hp1 NA18954.hp2 NA18959.hp2 NA18964.hp1 NA18977.hp2 NA18980.hp1 NA18988.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp2 NA18998.hp2 NA19000.hp1 NA19009.hp2 NA19011.hp2 NA19054.hp2 NA19057.hp1 NA19058.hp2 NA19063.hp1 NA19066.hp1 NA19078.hp1 NA19078.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(28): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0050 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0094 a0001c0001t0001g0136 a0001c0001t0001g0145 a0001c0001t0012g0077	51	281	0.1815	-190	c.43 others(11): Show c.4320_*4509del	MCRIP1	ENSG00000225663.8	transcript	ENST00000455127.7	protein_coding		3623		chr17	TogoVar
MLPH_chr2_237482251_237560322	237543870	TGGGAGGA others(183): Show TGGGAGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGAGGACAGTGGTG AGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGACAGTGGT GAGTGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGG TGAGTGGGAGGACAGTGGTGAGTGGGGACAGTGGTGAGTGG	T T	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0020 a0020	a0020c0026 a0020c0026	a0020c0026t0002 a0020c0026t0002	a0020c0026t0002g0046 a0020c0026t0002g0046	1	284	0.0035	-190	c.153 others(19): Show c.1539+1215_1539+1404del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MRAP_chr21_32293855_32317290	32306333	TAGGAGCC others(183): Show TAGGAGCCGGGCAAGCAGATGCATGGGGTGGGGGGGCACACAATTCCATT CAGTGTTTCCTCTTAACAATCACCCTAAACAGACCCCGTGGCCAGCTGCC CTGAGGAAAAAGACACTTCTTGGCTCCCCTGTTCTTTCCCAAAGTTATTG TTAATGGGAGATCTTCCCCATGGTAACAGCTGAGAGGCTGG	T T	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	434	0.0023	-190	c.107 others(15): Show c.107-302_107-113del	MRAP	ENSG00000170262.13	transcript	ENST00000303645.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr21	TogoVar
MROH2B_chr5_40993020_41076342	41061933	GTCTAAAA others(183): Show GTCTAAAATTTAAGATAGTCAATGCCAAGTGTTAACAAGACTAAGGTGCA GCTGGTATTCTCACTGCTGGTAGAAGGGCGAATTGGTTCAAGCACTTTGC AGAACTCTTTGGCACTATCTAGCAAAGTTGAATATGCATTCCATTTGACC CAACTATTCCAATCTTATGTATATAGCCATTAGACGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02809.hp1 HG03486.hp2 HG01167.hp1 HG02809.hp1 HG03486.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0002 a0002c0013t0002	a0002c0013t0002g0019 a0002c0013t0002g0020 a0002c0013t0002g0092 a0002c0013t0002g0019 a0002c0013t0002g0020 a0002c0013t0002g0092	3	394	0.0076	-190	c.461 others(15): Show c.461-399_461-210del	MROH2B	ENSG00000171495.17	transcript	ENST00000399564.5	protein_coding	5/41			chr5	TogoVar
MYDGF_chr19_4652545_4675342	4671922	CATATATT others(183): Show CATATATTCACATATGTGAATATATATATTCATATATTCACATATGTGAA TATATATATTCATATATTCACATATGTGAATATATATATTCATATATTCA CATATGTGAATATATATTCATATATTCACATATGTGAATATATATTCATA TATTCATATATACTTATATATTCATATATTCATATATACTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG02040.hp2 HG02155.hp1 others(6): Show HG00597.hp1 HG02040.hp2 HG02155.hp1 NA18964.hp1 NA18974.hp1 NA18998.hp2 NA19059.hp1 NA19079.hp1 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0008 a0002c0002t0002 a0002c0002t0008	a0002c0002t0002g0029 a0002c0002t0002g0105 a0002c0002t0002g0110 others(5): Show a0002c0002t0002g0029 a0002c0002t0002g0105 a0002c0002t0002g0110 a0002c0002t0002g0112 a0002c0002t0002g0119 a0002c0002t0002g0131 a0002c0002t0002g0134 a0002c0002t0008g0106	9	407	0.0221	-190	c.-17 others(11): Show c.-1778_-1589del	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding		1581		chr19	TogoVar
MYZAP_chr15_57586904_57690364	57687858	TATATAAT others(183): Show TATATAATATGTGTGTACAATATACACATATATAATATGTGTGTACAATA TACACATATATAATATGTGTGTACAATATACACATATATAATATGTGTGT ACAATATACACATATATAATGTGTGTACAATATACACATATATAAATGTG TGTACAATATACACATATATAAATGTGTGTACAATATACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0095 a0002c0002t0002g0095	1	338	0.0030	-190	c.33 others(11): Show c.3361_*3550del	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		2495		chr15	TogoVar
NAA60_chr16_3438680_3491953	3469293	AGGGCCCG others(183): Show AGGGCCCGTCTCTGACTTTGCCTTGCTGCTCCTCCCAGCACTGCCCTGGT ACCCGTCCTGTTTAGAGGGCTCAGAGCAGAGAGCACCTGCCTGGCAGGGC CTGTCTCTGACTTTGCCTTGCTGCTCCCCCCAGCACTGCCCTGGTACCCA TCCTGTTTGGAGGGCTCAGAGCAGAGAGCACCTGCCTGGCG	A A	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0275 a0001c0002t0002g0275	1	374	0.0027	-190	c.-6- others(15): Show c.-6-6923_-6-6734del	NAA60	ENSG00000122390.19	transcript	ENST00000407558.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr16	TogoVar
NAA60_chr16_3438680_3491953	3469387	CAGGGCCT others(183): Show CAGGGCCTGTCTCTGACTTTGCCTTGCTGCTCCCCCCAGCACTGCCCTGG TACCCATCCTGTTTGGAGGGCTCAGAGCAGAGAGCACCTGCCTGGCGGGG CCTGTCTCTGACTTTGCCTTGCTGCTCCGCACAGCACTGCCCTGGTACCC ATCCTGTTTGGAGGGCTCAGAGCAGAGAGCACCTGCCTGGT	C C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0326 a0001c0002t0010g0326	1	374	0.0027	-190	c.-6- others(15): Show c.-6-6834_-6-6645del	NAA60	ENSG00000122390.19	transcript	ENST00000407558.9	protein_coding	2/7			chr16	TogoVar
NAA60_chr16_3438680_3491953	3469442	ATCCTGTT others(183): Show ATCCTGTTTGGAGGGCTCAGAGCAGAGAGCACCTGCCTGGCGGGGCCTGT CTCTGACTTTGCCTTGCTGCTCCGCACAGCACTGCCCTGGTACCCATCCT GTTTGGAGGGCTCAGAGCAGAGAGCACCTGCCTGGTGGGGCCTGTCTCTG ACTTTGCCTTGCTGCTCCGCACTGCACTGCCCTGGTACCCG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00639.hp1 others(31): Show HG00099.hp1 HG00140.hp2 HG00639.hp1 HG00733.hp2 HG00741.hp1 HG01070.hp2 HG01099.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01255.hp1 HG01346.hp2 HG01361.hp2 HG01934.hp1 HG01975.hp1 HG02027.hp1 HG02040.hp1 HG02080.hp1 HG02723.hp1 HG03017.hp1 HG03239.hp2 HG03492.hp1 HG03831.hp1 NA18941.hp1 NA18950.hp2 NA18951.hp1 NA18959.hp2 NA18974.hp2 NA18977.hp1 NA18980.hp1 NA19070.hp1 NA19074.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0009 others(2): Show a0001c0002t0001 a0001c0002t0004 a0001c0002t0009 a0001c0002t0017 a0001c0002t0033	a0001c0002t0001g0022 a0001c0002t0001g0249 a0001c0002t0001g0254 others(25): Show a0001c0002t0001g0022 a0001c0002t0001g0249 a0001c0002t0001g0254 a0001c0002t0001g0307 a0001c0002t0001g0308 a0001c0002t0001g0309 a0001c0002t0004g0004 a0001c0002t0004g0009 a0001c0002t0004g0062 a0001c0002t0004g0066 a0001c0002t0004g0146 a0001c0002t0004g0147 a0001c0002t0004g0148 a0001c0002t0004g0228 a0001c0002t0004g0229 a0001c0002t0004g0236 a0001c0002t0004g0252 a0001c0002t0004g0304 a0001c0002t0004g0305 a0001c0002t0004g0306 a0001c0002t0009g0033 a0001c0002t0009g0034 a0001c0002t0009g0035 a0001c0002t0009g0036 a0001c0002t0009g0037 a0001c0002t0017g0031 a0001c0002t0017g0032 a0001c0002t0033g0227	34	356	0.0955	-190	c.-6- others(15): Show c.-6-6707_-6-6518del	NAA60	ENSG00000122390.19	transcript	ENST00000407558.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr16	TogoVar
NFE2L3_chr7_26147198_26192137	26176774	GTGGCCAG others(183): Show GTGGCCAGGCAGAGGCGCTCCTCACTTCCCAGACGGGGTGGCCAGGCAGA GGCGCTCCTCACTTCCCAGACGATGGGTGGCCGGGCAGAGGCACTCCTCA CCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCTCACATCCCAGACGAT GGGCGGCCAGGCAGAGATGCTCCTCACTTCCTAGACGGGGT	G G	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0057 a0001c0002t0001g0057	1	398	0.0025	-190	c.571 others(16): Show c.571-1168_571-979del	NFE2L3	ENSG00000050344.9	transcript	ENST00000056233.4	protein_coding	1/3			chr7	TogoVar
NOL10_chr2_10565754_10694975	10587054	TACATATA others(183): Show TACATATATATATACATATATATACATATATATACATATATATACACATA TATATACATATATATACATATATATACATATATACACATATATATACATA TATACACATATATACACATATATATACACATATATATACACATATATATA CACATATATATATACATATATATACATATATATATACATAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA19087.hp2 HG02055.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0327 a0001c0001t0001g0348 a0001c0001t0001g0327 a0001c0001t0001g0348	2	369	0.0054	-190	c.184 others(19): Show c.1844+1799_1844+1988del	NOL10	ENSG00000115761.17	transcript	ENST00000381685.10	protein_coding	19/20			chr2	TogoVar
NXN_chr17_794310_984776	949222	CTGCCTCC others(183): Show CTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCGCGGCCTCCTCCT CTCCCCCCTGCCTCCTCCTCTCCCCGCTGCCTCCTCCTCTCCCCGCGGCC TCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCC CGCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCGT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0018 a0001c0001t0012g0018	1	240	0.0042	-190	c.360 others(19): Show c.360+29907_360+30096del	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
P2RX5_chr17_3668227_3701155	3686129	CAGAACAG others(183): Show CAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCC CCTCCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCT CCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGC GGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTG	C C	intron_variant intron_variant	MODIFIER	HG01346.hp2 NA18961.hp1 NA19030.hp2 HG01346.hp2 NA18961.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0084 a0002c0002t0001g0317 a0002c0002t0002g0170 a0001c0001t0001g0084 a0002c0002t0001g0317 a0002c0002t0002g0170	3	329	0.0091	-190	c.981 others(17): Show c.981+1693_981+1882del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
PDE9A_chr21_42648621_42780509	42691776	ACCATCCA others(183): Show ACCATCCAAAGTCTTCCAGACCCATCATCATCACCATTTGAGGTCACCCA GACCCATCACCATCACCATCCAAAGTCACCCAGCCCATCACCATCACTAT CCAAAGTGACCAGCCCCTTTACCATCACTATCCAAAGTCACCCAGACCCA TCACCATCACCACCCAAAGTCACCCAGCCCCTTCACCATCT	A A	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	322	0.0031	-190	c.218 others(17): Show c.218+3795_218+3984del	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PERM1_chr1_970198_987093	976811	CCAACCCC others(183): Show CCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCC TCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAA CCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCC ACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCG	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01346.hp1 HG04184.hp2 others(3): Show HG01167.hp1 HG01346.hp1 HG04184.hp2 HG04204.hp2 NA18962.hp2 NA19000.hp2	a0003 a0018 a0003 a0018	a0003c0003 a0003c0016 a0018c0019 a0003c0003 a0003c0016 a0018c0019	a0003c0003t0003 a0003c0016t0003 a0018c0019t0001 a0003c0003t0003 a0003c0016t0003 a0018c0019t0001	a0003c0003t0003g0009 a0003c0003t0003g0017 a0003c0003t0003g0061 others(2): Show a0003c0003t0003g0009 a0003c0003t0003g0017 a0003c0003t0003g0061 a0003c0016t0003g0065 a0018c0019t0001g0070	6	398	0.0151	-190	c.215 others(17): Show c.2150-377_2150-188del	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PLEKHN1_chr1_961482_980865	976811	CCAACCCC others(183): Show CCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCC TCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAA CCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCC ACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01346.hp2 HG04184.hp1 others(2): Show HG01167.hp1 HG01346.hp2 HG04184.hp1 NA18962.hp2 NA19000.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0014 others(1): Show a0001c0001 a0002c0002 a0005c0014 a0005c0050	a0001c0001t0004 a0002c0002t0019 a0005c0014t0004 others(1): Show a0001c0001t0004 a0002c0002t0019 a0005c0014t0004 a0005c0050t0004	a0001c0001t0004g0001 a0002c0002t0019g0116 a0002c0002t0019g0129 others(2): Show a0001c0001t0004g0001 a0002c0002t0019g0116 a0002c0002t0019g0129 a0005c0014t0004g0130 a0005c0050t0004g0069	5	412	0.0121	-190	c.22 others(11): Show c.2237_*2426del	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		947		chr1	TogoVar
PPP1R16B_chr20_38800697_38928024	38895814	CTTCCTCC others(183): Show CTTCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTTCC CTCCCTCCCTCCTTCCTTCTTTCTTCCCTCCCTCCCTCCTTCCTTCTTTC TTCCCTCCCTCCCTCCTTCCTTCTTTCTTCCCTCCCTCCCTCCTTTCTTC TTTCTTCCCTCCCTCCCTCCTTCCTTCTTTCTCTCCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0221 a0001c0001t0014g0221	1	242	0.0041	-190	c.467 others(15): Show c.467+106_467+295del	PPP1R16B	ENSG00000101445.10	transcript	ENST00000299824.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
PPP1R21_chr2_48435766_48520386	48512349	GGGCTCAC others(183): Show GGGCTCACTTAGTTGGCATCATCTCATGTGCTTAGTCCATTTTCATAACT CAGTATTATACCACCATCAGCTGGGATTTACCATCTCCAGCCTGCAGTCT TTGAGATCTGCTGCTGCCCCTTTGTGATTCAGCAGGCATTTATTGAGTTC CTGCTGTGTATACTGGGGAGAAATAGAGATGAAGAAACCAT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG02723.hp1 others(4): Show HG01243.hp1 HG01884.hp2 HG02723.hp1 HG03453.hp1 HG03688.hp1 NA18522.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0028 a0001c0003t0035 a0001c0003t0041 others(2): Show a0001c0003t0028 a0001c0003t0035 a0001c0003t0041 a0001c0003t0044 a0001c0003t0045	a0001c0003t0028g0334 a0001c0003t0028g0335 a0001c0003t0035g0332 others(4): Show a0001c0003t0028g0334 a0001c0003t0028g0335 a0001c0003t0035g0332 a0001c0003t0035g0333 a0001c0003t0041g0084 a0001c0003t0044g0308 a0001c0003t0045g0159	7	370	0.0189	-190	c.231 others(18): Show c.2313+886_2313+1075del	PPP1R21	ENSG00000162869.16	transcript	ENST00000294952.13	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr2	TogoVar
PSMB5_chr14_23020856_23039900	23036287	GTGTTAGC others(183): Show GTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCACCTC GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGGCCTC ACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATT GGCCACGCTGGTCTCAAACTCTTGACCTCAGGTGATCCGCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00423.hp2 others(120): Show HG00280.hp2 HG00323.hp2 HG00423.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00738.hp1 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01243.hp1 HG01261.hp2 HG01346.hp2 HG01515.hp2 HG01884.hp1 HG01928.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02055.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02109.hp2 HG02129.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02486.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02698.hp2 HG02735.hp2 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18944.hp1 NA18949.hp1 NA18952.hp1 NA18952.hp2 NA18956.hp1 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18970.hp1 NA18973.hp1 NA18977.hp1 NA18981.hp2 NA18984.hp2 NA18986.hp2 NA18990.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19004.hp2 NA19007.hp2 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19068.hp2 NA19074.hp1 NA19078.hp1 NA19079.hp2 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(28): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0002g0022 a0001c0001t0003g0052 a0002c0002t0001g0016 a0002c0002t0001g0037	123	402	0.3060	-190	c.-15 others(11): Show c.-1596_-1407del	PSMB5	ENSG00000100804.19	transcript	ENST00000361611.11	protein_coding		1388		chr14	TogoVar
RASA3_chr13_113972783_114137623	114098934	GGACCACA others(183): Show GGACCACAGCAGTCGGGGCCCGGCCACCCGAGCCCCCCAGACCACAGCAG TCGGGGCCCGGCCACCCGAGCCCCCCAGACCACAGCAGTCGGGGCCCGGC CACCCGAGCCCCCCAGACCACAGCAGTCGGGGCCCGGCCACCCGAGCCCC CCAGACCACAGCAGTCGGGGCCCGGCCACCCGAGCCCCCCA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01433.hp1 HG02148.hp2 others(3): Show HG00639.hp2 HG01433.hp1 HG02148.hp2 HG03130.hp1 HG03209.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0002t0002 a0001c0007t0002 a0001c0001t0001 a0001c0002t0002 a0001c0007t0002	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0018 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0001t0001g0063 a0001c0002t0002g0031 a0001c0007t0002g0064	6	17	0.3529	-190	c.56- others(17): Show c.56-25287_56-25098del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114111271	GCGGAGTT others(183): Show GCGGAGTTCTAAGGAGCTGAGCCTCAAACCAGCTGCAGACCGAGTTCTAA CGGGCTGAGCCACAAACGAGCTGCAGGCCGAGTTCTAACGGGCTGAGCCT CAAACCAGCTGCAGGCCGAGTTCTAACGGGCTGAGCCACAAACGAGCTGC AGGCGGAGTTCTAAGGAGCTGAGCCTCAAACCAGCTGCAGA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00733.hp1 HG01167.hp1 others(9): Show HG00621.hp1 HG00733.hp1 HG01167.hp1 HG01175.hp1 HG01175.hp2 HG01433.hp2 HG01943.hp2 HG01981.hp2 HG02148.hp1 HG02300.hp1 NA18945.hp1 NA18975.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0006 a0001c0001 a0001c0002 a0003c0006	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0003c0006t0002	a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0006g0012 others(9): Show a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0006g0012 a0001c0001t0006g0013 a0001c0002t0001g0058 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0067 a0003c0006t0002g0053	12	65	0.1846	-190	c.55+ others(17): Show c.55+20974_55+21163del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASGEF1C_chr5_180095795_180214211	180113282	GGATCCAG others(183): Show GGATCCAGGATGGACGGAGGGACCGGGGATGGACGGAGGGACCGGGGATG GACGGAGGGACCGGGGATGGACTGAGGGATCCGGGATGGACGGAGGGACC GGGGATGGACGGAGGGACCGGGGATGGACGGAGGGATCGGGGATGGATGG AGGGATCCGGGATGGACGGAGGGACCGGGGATGGACGGAGT	G G	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0126 a0001c0001t0068g0126	1	368	0.0027	-190	c.117 others(18): Show c.1179+974_1179+1163del	RASGEF1C	ENSG00000146090.16	transcript	ENST00000361132.9	protein_coding	11/13			chr5	TogoVar
RASGEF1C_chr5_180095795_180214211	180113323	CCGGGGAT others(183): Show CCGGGGATGGACGGAGGGACCGGGGATGGACTGAGGGATCCGGGATGGAC GGAGGGACCGGGGATGGACGGAGGGACCGGGGATGGACGGAGGGATCGGG GATGGATGGAGGGATCCGGGATGGACGGAGGGACCGGGGATGGACGGAGT GACCGGGGATGGACGGAGGGACCGGGGATGGACGGAGGGAT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01943.hp2 HG02145.hp1 others(10): Show HG01243.hp1 HG01943.hp2 HG02145.hp1 HG02486.hp1 HG02559.hp1 HG02886.hp2 HG03225.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03704.hp2 NA19030.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0001t0004 a0001c0001t0016 others(7): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0016 a0001c0001t0021 a0001c0001t0081 a0001c0002t0003 a0001c0002t0023 a0001c0002t0033 a0001c0002t0053 a0001c0003t0020	a0001c0001t0003g0177 a0001c0001t0003g0196 a0001c0001t0003g0292 others(10): Show a0001c0001t0003g0177 a0001c0001t0003g0196 a0001c0001t0003g0292 a0001c0001t0004g0191 a0001c0001t0016g0032 a0001c0001t0021g0149 a0001c0001t0081g0369 a0001c0002t0003g0239 a0001c0002t0003g0306 a0001c0002t0023g0345 a0001c0002t0033g0063 a0001c0002t0053g0023 a0001c0003t0020g0091	13	355	0.0366	-190	c.117 others(18): Show c.1179+933_1179+1122del	RASGEF1C	ENSG00000146090.16	transcript	ENST00000361132.9	protein_coding	11/13			chr5	TogoVar
RHBDL3_chr17_32260832_32329659	32276728	GGCCCTAG others(183): Show GGCCCTAGCACCTTACTCCAGCCCTAGCACAGTACTCCGGCCCTAGCACC TTACTCCGGCCCTAGCACCTTACTCCGGCCCTAGCACAGTACTCCGGCCC TAGCACCTTACTCCGGCCCTAGCACCTTACTCCGGCCCTAGCACAGTACT GCGGCCCTAGCACCTTACTCCGGCCCTAGCACCTTACTCCA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00438.hp2 others(92): Show HG00280.hp1 HG00323.hp2 HG00438.hp2 HG00558.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01433.hp2 HG01517.hp2 HG01891.hp2 HG01981.hp2 HG01993.hp1 HG02055.hp1 HG02056.hp1 HG02074.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02559.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02818.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp2 NA18960.hp2 NA18961.hp1 NA18971.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18994.hp1 NA18999.hp2 NA19000.hp2 NA19010.hp2 NA19030.hp1 NA19056.hp1 NA19062.hp1 NA19065.hp1 NA19081.hp2 NA19088.hp1 NA19089.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0013 a0001c0001t0025 a0001c0001t0029 a0001c0001t0031 a0001c0001t0033 a0001c0005t0001 a0002c0002t0001 a0002c0002t0003 a0002c0002t0024 a0002c0002t0030	a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0019 others(90): Show a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0092 a0001c0001t0001g0203 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0218 a0001c0001t0001g0223 a0001c0001t0001g0241 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0271 a0001c0001t0001g0274 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0003g0213 a0001c0001t0003g0258 a0001c0001t0003g0276 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0006g0268 a0001c0001t0006g0269 a0001c0001t0006g0273 a0001c0001t0007g0219 a0001c0001t0008g0251 a0001c0001t0008g0256 a0001c0001t0008g0257 a0001c0001t0013g0226 a0001c0001t0025g0284 a0001c0001t0029g0294 a0001c0001t0031g0272 a0001c0001t0033g0278 a0001c0005t0001g0224 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0252 a0002c0002t0001g0259 a0002c0002t0001g0261 a0002c0002t0001g0279 a0002c0002t0003g0010 a0002c0002t0003g0025 a0002c0002t0003g0026 a0002c0002t0003g0027 a0002c0002t0003g0093 a0002c0002t0003g0094 a0002c0002t0003g0123 a0002c0002t0003g0130 a0002c0002t0003g0234 a0002c0002t0003g0248 a0002c0002t0003g0255 a0002c0002t0003g0260 a0002c0002t0003g0270 a0002c0002t0003g0277 a0002c0002t0003g0283 a0002c0002t0024g0254 a0002c0002t0030g0220	95	304	0.3125	-190	c.136 others(17): Show c.136-7912_136-7723del	RHBDL3	ENSG00000141314.13	transcript	ENST00000269051.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
RICTOR_chr5_38932920_39079399	39053710	GTGAAACC others(183): Show GTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGAGGTGG CGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCG TGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGATTGCGCCACTGCAC TCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02080.hp1 HG02602.hp1 others(12): Show HG01109.hp2 HG02080.hp1 HG02602.hp1 HG02738.hp1 HG02886.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03491.hp2 HG03492.hp1 HG03834.hp2 HG03942.hp1 NA19006.hp1 NA19030.hp2 NA19076.hp1	a0001 a0003 a0001 a0003	a0001c0005 a0001c0006 a0003c0004 a0001c0005 a0001c0006 a0003c0004	a0001c0005t0015 a0001c0005t0024 a0001c0005t0026 others(4): Show a0001c0005t0015 a0001c0005t0024 a0001c0005t0026 a0001c0006t0025 a0001c0006t0043 a0003c0004t0007 a0003c0004t0013	a0001c0005t0015g0330 a0001c0005t0024g0199 a0001c0005t0026g0328 others(11): Show a0001c0005t0015g0330 a0001c0005t0024g0199 a0001c0005t0026g0328 a0001c0006t0025g0200 a0001c0006t0043g0195 a0003c0004t0007g0002 a0003c0004t0007g0188 a0003c0004t0007g0190 a0003c0004t0007g0191 a0003c0004t0007g0192 a0003c0004t0007g0196 a0003c0004t0013g0189 a0003c0004t0013g0193 a0003c0004t0013g0194	15	336	0.0446	-190	c.97+ others(17): Show c.97+20211_97+20400del	RICTOR	ENSG00000164327.14	transcript	ENST00000357387.8	protein_coding	2/37			chr5	TogoVar
RIMBP2_chr12_130391133_130721299	130531969	ATGTTTAG others(183): Show ATGTTTAGCCTCTAGGAGGTACGTCTAATGAGATGCGTATGTTTAGCCTC TAGGAGGGACGTCTAATGAGATGCGTATGTTTAGCCTCTAGGAGGTACGT CTAATGAGATGCGTATGTTTAGCCTCTAGGAGGGACGTCTAATGAGATGC GTGTGTGTAGCCTCTAGGAGTTACGTCTAATGAGATGCGTG	A A	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0017 a0001c0002t0002g0017	1	178	0.0056	-190	c.-21 others(21): Show c.-216-14242_-216-14053del	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	2/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130539724	CGATGAGG others(183): Show CGATGAGGTGGCCAGGTGTAGGATATGGCAAATGCAGTCCATGAAGTGGC CAGGTGTAGGATATGGCAAATGCAGTCCATGAGGTGGCCAGGTGTAGGAT ATGGCAAATGCAGTCGATGAGGTGGCCAGGTGTAGGATATGGCAAATGCA GTAGATGAGGTGGCGAGGTGTAGGCTATGGCAAATGCAGTA	C C	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0077 a0001c0003t0001g0077	1	169	0.0059	-190	c.-21 others(21): Show c.-216-21997_-216-21808del	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	2/22			chr12	TogoVar
ROR2_chr9_91717601_91955228	91798452	GGCTGACA others(183): Show GGCTGACACCCTGGGCTCTGTAGGTGGGGAATGACACCCTGGGATCTGTG GGTGGGGCTGACACCCTGGGCTCTGTGGGTGGGGAATGACACCCTGGGAT CTGTGGGTGCAGCTGACGCCCTGGGCTAGTGAGTGGAGCTGACACCCTGG GCTCTGTGGGTGGGGAATGACACCCTGGGCTCTGTGGGCGA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00544.hp2 others(22): Show HG00408.hp1 HG00438.hp1 HG00544.hp2 HG00621.hp1 HG01109.hp2 HG02056.hp2 HG02258.hp2 HG02647.hp1 HG02896.hp2 HG02897.hp2 HG03130.hp2 HG03209.hp1 HG03471.hp2 HG03710.hp2 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18973.hp1 NA18977.hp1 NA18985.hp2 NA18994.hp1 NA19012.hp1 NA19090.hp1 NA20300.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0006 a0007 a0009 a0016	a0001c0001 a0001c0005 a0001c0009 others(9): Show a0001c0001 a0001c0005 a0001c0009 a0001c0035 a0002c0004 a0002c0006 a0002c0007 a0003c0003 a0006c0011 a0007c0012 a0009c0016 a0016c0031	a0001c0001t0001 a0001c0001t0007 a0001c0005t0003 others(11): Show a0001c0001t0001 a0001c0001t0007 a0001c0005t0003 a0001c0005t0009 a0001c0009t0010 a0001c0035t0003 a0002c0004t0003 a0002c0006t0004 a0002c0007t0001 a0003c0003t0002 a0006c0011t0001 a0007c0012t0003 a0009c0016t0007 a0016c0031t0004	a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0110 others(22): Show a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0110 a0001c0001t0001g0127 a0001c0001t0001g0132 a0001c0001t0007g0007 a0001c0005t0003g0217 a0001c0005t0009g0099 a0001c0009t0010g0008 a0001c0035t0003g0204 a0002c0004t0003g0074 a0002c0006t0004g0026 a0002c0006t0004g0037 a0002c0006t0004g0046 a0002c0006t0004g0055 a0002c0006t0004g0113 a0002c0006t0004g0124 a0002c0006t0004g0181 a0002c0007t0001g0009 a0003c0003t0002g0172 a0003c0003t0002g0173 a0006c0011t0001g0205 a0007c0012t0003g0163 a0009c0016t0007g0116 a0016c0031t0004g0122	25	224	0.1116	-190	c.98- others(17): Show c.98-22824_98-22635del	ROR2	ENSG00000169071.15	transcript	ENST00000375708.4	protein_coding	1/8			chr9	TogoVar
RPH3AL_chr17_207389_357807	287095	GCACCCTC others(183): Show GCACCCTCTCTCCACCGTCAGACCTCACACCCTCTCTCCACCGTCAGACC TCACACCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCA GACCTCGCACCCTCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCA CCGACAGACCTCGCACCCTCTCTCTCCACCGTCAGACCTCA	A A	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	126	0.0079	-190	c.352 others(17): Show c.352-5430_352-5241del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RSPO2_chr8_107894316_108088620	108000870	TGGGCGCC others(183): Show TGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCT TGAACCAGGGAGGTGGAGCTTGCAGTGAGCAGAGATCTCACCACTGCACT CCAGCCTGGGTGACAAGAGCGACACTCTGTCTTAAAAAAATAAAAATAAA TAAAAATAAAATAATAAAAAAAATTAGCCAGGCGTGGTGGC	T T	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA18985.hp1 NA19002.hp2 HG02165.hp1 NA18985.hp1 NA19002.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0115 a0002c0002t0001g0128 a0002c0002t0001g0153 a0002c0002t0001g0115 a0002c0002t0001g0128 a0002c0002t0001g0153	3	189	0.0159	-190	c.95- others(17): Show c.95-11816_95-11627del	RSPO2	ENSG00000147655.12	transcript	ENST00000276659.10	protein_coding	2/5			chr8	TogoVar
SCAMP1_chr5_78355617_78485739	78430042	TTACAGTA others(183): Show TTACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTA TTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACA GTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTAT AAATACAGTATTTATTTATAAATACAGTATTTATTTATAAA	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01069.hp1 HG01071.hp1 others(17): Show HG00733.hp1 HG01069.hp1 HG01071.hp1 HG01109.hp1 HG01243.hp2 HG02055.hp1 HG02258.hp2 HG02559.hp2 HG02572.hp2 HG02630.hp2 HG02809.hp1 HG02896.hp1 HG02970.hp2 HG03195.hp1 HG03225.hp1 HG03471.hp1 HG03516.hp1 HG03540.hp1 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0017 a0001c0001t0021 others(2): Show a0001c0001t0005 a0001c0001t0017 a0001c0001t0021 a0001c0001t0030 a0001c0001t0031	a0001c0001t0005g0144 a0001c0001t0005g0146 a0001c0001t0005g0147 others(17): Show a0001c0001t0005g0144 a0001c0001t0005g0146 a0001c0001t0005g0147 a0001c0001t0005g0148 a0001c0001t0005g0149 a0001c0001t0005g0150 a0001c0001t0005g0151 a0001c0001t0005g0152 a0001c0001t0005g0153 a0001c0001t0005g0154 a0001c0001t0005g0155 a0001c0001t0005g0156 a0001c0001t0005g0260 a0001c0001t0005g0261 a0001c0001t0017g0157 a0001c0001t0017g0158 a0001c0001t0021g0109 a0001c0001t0021g0110 a0001c0001t0030g0145 a0001c0001t0031g0263	20	201	0.0995	-190	c.632 others(17): Show c.632+8123_632+8312del	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCNN1D_chr1_1275436_1297025	1289147	TCCCGTGT others(183): Show TCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCCC CGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCC	T T	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0252 a0003c0004t0003g0252	1	258	0.0039	-190	c.166 others(18): Show c.1663-1115_1663-926del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	3708269	CACCTCCA others(183): Show CACCTCCAAGGTCCAGTTACCTCCCACCAGGCCCTCCATACCTCCAAGGT CCAGTTACCTCCCACCAGGCCCTCCATACCTCCAAGGTCCAGTTACCTCC CACCAGGCCCTCCATACCTCCAAGGTCCAGTTACCTCCCACCAGGCCCTC CATACCTCCAAGGTCCAGTTACCTCCCACCAGGCCCTCCAT	C C	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0030 a0030	a0030c0086 a0030c0086	a0030c0086t0046 a0030c0086t0046	a0030c0086t0046g0012 a0030c0086t0046g0012	1	17	0.0588	-190	c.713 others(19): Show c.713+66431_713+66620del	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SECTM1_chr17_82316024_82338766	82319043	CGTGTGGA others(183): Show CGTGTGGACACGCGGGTGTGCAGAGACGGGTGCGTGTGGACACGTGCGTG TGTAGAGACGTGTGCGTGTGGACGTGCGTGTGCAGAGACGGGTGTGTGGA CACTTGTGTGTGCAGAGACGGGTGCGCGTGACTCCATGCATGTGTGCAGA GACGGGTGCATGTGGACACGCGTGTGTGCAGAGATGGATGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG04199.hp1 HG02698.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0007 a0001c0001t0004g0007	2	372	0.0054	-190	c.29 others(11): Show c.2928_*3117del	SECTM1	ENSG00000141574.8	transcript	ENST00000269389.8	protein_coding		1980		chr17	TogoVar
SLA2_chr20_36607318_36651196	36636253	TAAAAATA others(183): Show TAAAAATACAAAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGT CCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGC GGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCAGCCT GGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02886.hp2 others(8): Show HG01884.hp2 HG02055.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG03098.hp1 HG03453.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0001 a0001c0001t0006 a0001c0005t0010 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0005t0010 a0002c0002t0004	a0001c0001t0001g0168 a0001c0001t0001g0334 a0001c0001t0001g0351 others(8): Show a0001c0001t0001g0168 a0001c0001t0001g0334 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0006g0337 a0001c0001t0006g0338 a0001c0005t0010g0340 a0002c0002t0004g0242 a0002c0002t0004g0333 a0002c0002t0004g0339	11	358	0.0307	-190	c.92- others(15): Show c.92-1854_92-1665del	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding	2/7			chr20	TogoVar
SLC22A24_chr11_63074940_63149221	63113031	AAAAAATA others(183): Show AAAAAATATATATATATATATATACATATATATATATACATATATATACA CATATATATACATATATATATACATATATATACACATATATATATACATA TATATATACACATATATATATACATATATATATACACATATATATACATA TATATATACACATATATATATACATATATATACACATATAT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02630.hp1 HG02922.hp1 others(5): Show HG02486.hp2 HG02630.hp1 HG02922.hp1 HG02970.hp2 HG03139.hp2 HG03453.hp1 HG03516.hp1 NA20300.hp1	a0005 a0008 a0005 a0008	a0005c0006 a0008c0012 a0005c0006 a0008c0012	a0005c0006t0002 a0008c0012t0001 a0005c0006t0002 a0008c0012t0001	a0005c0006t0002g0077 a0005c0006t0002g0080 a0005c0006t0002g0081 others(5): Show a0005c0006t0002g0077 a0005c0006t0002g0080 a0005c0006t0002g0081 a0005c0006t0002g0082 a0005c0006t0002g0083 a0005c0006t0002g0084 a0005c0006t0002g0086 a0008c0012t0001g0090	8	350	0.0229	-190	c.830 others(17): Show c.830+5691_830+5880del	SLC22A24	ENSG00000197658.9	transcript	ENST00000612278.4	protein_coding	4/9			chr11	TogoVar
SLC22A24_chr11_63074940_63149221	63113033	AAAATATA others(183): Show AAAATATATATATATATATATACATATATATATATACATATATATACACA TATATATACATATATATATACATATATATACACATATATATATACATATA TATATACACATATATATATACATATATATATACACATATATATACATATA TATATACACATATATATATACATATATATACACATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01099.hp2 HG01109.hp2 others(14): Show HG01074.hp2 HG01099.hp2 HG01109.hp2 HG02258.hp2 HG03654.hp2 NA18942.hp2 NA18951.hp1 NA18971.hp2 NA18974.hp1 NA18984.hp2 NA18998.hp2 NA18999.hp1 NA19007.hp2 NA19056.hp1 NA19063.hp1 NA19063.hp2 NA19081.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0007 a0008	a0001c0001 a0001c0005 a0002c0002 others(3): Show a0001c0001 a0001c0005 a0002c0002 a0004c0004 a0007c0009 a0008c0012	a0001c0001t0001 a0001c0005t0001 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0005t0001 a0002c0002t0001 a0004c0004t0001 a0007c0009t0001 a0008c0012t0001	a0001c0001t0001g0223 a0001c0001t0001g0255 a0001c0001t0001g0259 others(14): Show a0001c0001t0001g0223 a0001c0001t0001g0255 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0005t0001g0010 a0001c0005t0001g0305 a0001c0005t0001g0312 a0002c0002t0001g0122 a0002c0002t0001g0265 a0002c0002t0001g0352 a0004c0004t0001g0126 a0004c0004t0001g0145 a0004c0004t0001g0164 a0004c0004t0001g0166 a0004c0004t0001g0171 a0007c0009t0001g0095 a0008c0012t0001g0091	17	343	0.0496	-190	c.830 others(17): Show c.830+5689_830+5878del	SLC22A24	ENSG00000197658.9	transcript	ENST00000612278.4	protein_coding	4/9			chr11	TogoVar
SLC22A24_chr11_63074940_63149221	63113039	TATATATA others(183): Show TATATATATATATATACATATATATATATACATATATATACACATATATA TACATATATATATACATATATATACACATATATATATACATATATATATA CACATATATATATACATATATATATACACATATATATACATATATATATA CACATATATATATACATATATATACACATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(127): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00438.hp2 HG00558.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01891.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02818.hp2 HG02886.hp2 HG02897.hp1 HG03017.hp2 HG03041.hp2 HG03195.hp2 HG03209.hp1 HG03492.hp2 HG03579.hp2 HG03654.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG06807.hp1 NA18612.hp1 NA18906.hp1 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18955.hp1 NA18959.hp1 NA18964.hp2 NA18965.hp2 NA18967.hp1 NA18971.hp1 NA18986.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp2 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19066.hp2 NA19072.hp2 NA19075.hp1 NA19075.hp2 NA19079.hp2 NA19081.hp1 NA19085.hp1 NA19088.hp1 NA19090.hp2 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0007	a0001c0001 a0001c0007 a0001c0011 others(3): Show a0001c0001 a0001c0007 a0001c0011 a0002c0002 a0004c0004 a0007c0009	a0001c0001t0001 a0001c0007t0001 a0001c0011t0001 others(3): Show a0001c0001t0001 a0001c0007t0001 a0001c0011t0001 a0002c0002t0001 a0004c0004t0001 a0007c0009t0001	a0001c0001t0001g0006 a0001c0001t0001g0109 a0001c0001t0001g0111 others(127): Show a0001c0001t0001g0006 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0132 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0287 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0295 a0001c0001t0001g0301 a0001c0001t0001g0303 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0310 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0007t0001g0269 a0001c0007t0001g0270 a0001c0007t0001g0277 a0001c0007t0001g0309 a0001c0011t0001g0331 a0001c0011t0001g0332 a0001c0011t0001g0333 a0001c0011t0001g0334 a0002c0002t0001g0007 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0107 a0002c0002t0001g0117 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0131 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0198 a0002c0002t0001g0200 a0002c0002t0001g0202 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0210 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0264 a0002c0002t0001g0268 a0002c0002t0001g0280 a0002c0002t0001g0281 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0284 a0002c0002t0001g0285 a0002c0002t0001g0290 a0002c0002t0001g0298 a0002c0002t0001g0314 a0002c0002t0001g0335 a0002c0002t0001g0338 a0002c0002t0001g0340 a0002c0002t0001g0350 a0004c0004t0001g0113 a0004c0004t0001g0114 a0004c0004t0001g0115 a0004c0004t0001g0116 a0004c0004t0001g0130 a0007c0009t0001g0093 a0007c0009t0001g0096 a0007c0009t0001g0097	130	363	0.3581	-190	c.830 others(17): Show c.830+5683_830+5872del	SLC22A24	ENSG00000197658.9	transcript	ENST00000612278.4	protein_coding	4/9			chr11	TogoVar
SLC66A2_chr18_79897420_79956653	79919769	GAGGAGAG others(183): Show GAGGAGAGACAGGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGACGG GAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGTGA GAGGTCAGGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGGTC AGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGT	G G	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0014 a0001c0001t0004g0014	1	344	0.0029	-190	c.392 others(15): Show c.392-559_392-370del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79920390	AGGAACCG others(183): Show AGGAACCGAGGGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGG AGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAAGGT CAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAG ACAGGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGACG	A A	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0169 a0001c0001t0004g0169	1	312	0.0032	-190	c.392 others(16): Show c.392-1180_392-991del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79920935	GGAGAGGT others(183): Show GGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGG GTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGCTCAGTGAGGA GAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACC GAGTGAGAGGTCAAGCTCAGTGGGGAGAGATGGAACCGAGT	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0132 a0001c0001t0004g0132	1	321	0.0031	-190	c.392 others(17): Show c.392-1725_392-1536del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79921002	AGGAACCG others(183): Show AGGAACCGAGGGAGAGGTCAAGCTCAGTGAGGAGAGACAGGAACCGAGGG AGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGCT CAGTGGGGAGAGATGGAACCGAGTGAGAGGTCAAGGTCAGTGGGGAGAGA CAGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACG	A A	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0125 a0001c0001t0004g0125	1	340	0.0029	-190	c.392 others(17): Show c.392-1792_392-1603del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79921508	GGAGAGGT others(183): Show GGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGG GTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGCTCAGTGAGGA GAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACC GAGTGAGAGGTCAAGCTCAGTGGGGAGAGATGGAACCGAGT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG00733.hp2 others(21): Show HG00099.hp2 HG00639.hp2 HG00733.hp2 HG01109.hp2 HG01168.hp1 HG01255.hp2 HG01256.hp2 HG01433.hp1 HG01515.hp2 HG01517.hp2 HG01981.hp1 HG01981.hp2 HG02056.hp1 HG02486.hp1 HG02572.hp1 HG02683.hp2 HG02735.hp1 HG02738.hp1 HG03239.hp2 HG03669.hp1 HG03710.hp1 HG03927.hp1 HG04204.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 others(3): Show a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0020	a0001c0001t0005g0025 a0001c0001t0005g0148 a0001c0001t0005g0167 others(20): Show a0001c0001t0005g0025 a0001c0001t0005g0148 a0001c0001t0005g0167 a0001c0001t0005g0189 a0001c0001t0005g0190 a0001c0001t0005g0192 a0001c0001t0005g0201 a0001c0001t0005g0202 a0001c0001t0005g0205 a0001c0001t0005g0206 a0001c0001t0005g0208 a0001c0001t0005g0209 a0001c0001t0005g0210 a0001c0001t0005g0217 a0001c0001t0005g0219 a0001c0001t0005g0238 a0001c0001t0008g0212 a0001c0001t0008g0288 a0001c0001t0009g0193 a0001c0001t0009g0194 a0001c0001t0010g0172 a0001c0001t0011g0011 a0001c0001t0020g0184	24	319	0.0752	-190	c.392 others(17): Show c.392-2298_392-2109del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC6A12_chr12_185081_219157	216054	AGTTAGTA others(183): Show AGTTAGTAAACTTCTGGAGGCCAGAGACTCTCTAATGTTGAGCCCTTCCT CACTCAAGTTCTCCTAGCCTCCAAGACCCACTTGGTATTCAGACCAGTTA GTAAACTTCTGGAGGCCAGAGACTCTCTAATGTTGAGCCCTTCCTCACTC AAGTTCTCCTAGCCTCCAAGACCCACTTGGTATTCAGACTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0351 a0002c0007t0002g0351	1	418	0.0024	-190	c.-24 others(11): Show c.-2465_-2276del	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding		1898		chr12	TogoVar

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