Joint Open Genome and Omics Platform (JoGo)

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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
PPP2R2B_chr5_146575742_146883757	146812616	ATATATAT others(101): Show ATATATATATATATATACTGCTATCACTAGAGTTACTTAGTCCTCAGAAG AGTATATATATATATATATATATATATATATATATACACTGCTATCACTA GAGTTACTT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02647.hp2 HG02818.hp2 HG01496.hp1 HG02647.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0083 a0001c0001t0106 a0001c0001t0008 a0001c0001t0083 a0001c0001t0106	a0001c0001t0008g0050 a0001c0001t0083g0152 a0001c0001t0106g0164 a0001c0001t0008g0050 a0001c0001t0083g0152 a0001c0001t0106g0164	3	168	0.0179	-108	c.70+ others(17): Show c.70+65278_70+65385del		PPP2R2B	ENSG00000156475.19	transcript	ENST00000394411.9	protein_coding	2/9						chr5	TogoVar
PPP2R3B_chrX_328933_391907	342516	GGAGACCT others(101): Show GGAGACCTCGCCAACGGGAGGCGGGAGGGAGACCTCGCCAACGGGAGGCG GGAGTGAGACCTCGCCAACGGGAGGCGGGAGTGAGACCTCGCCAACGGGA GGCGGGAGT	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03471.hp1 HG03704.hp1 others(2): Show HG02630.hp1 HG03471.hp1 HG03704.hp1 HG04199.hp1 NA20752.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0004 a0002c0001t0002 a0002c0001t0004	a0002c0001t0002g0008 a0002c0001t0002g0016 a0002c0001t0002g0020 others(2): Show a0002c0001t0002g0008 a0002c0001t0002g0016 a0002c0001t0002g0020 a0002c0001t0002g0022 a0002c0001t0004g0003	5	20	0.2500	-108	c.103 others(17): Show c.1037-693_1037-586del		PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	7/12						chrX	TogoVar
PPP6R2_chr22_50338327_50450090	50345572	CCCAGTCA others(101): Show CCCAGTCAGTGCCCCCTCCAGTCAGTGCCCCCTCCAGTCAGTTTCCCCCC AGTCAGTGCCCCCTCCAGTCAGTTCCCCCCCAGTCAGTTTCCCCCCAGTC AGTTTCCCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00597.hp1 others(71): Show HG00099.hp2 HG00438.hp1 HG00597.hp1 HG00609.hp2 HG00639.hp1 HG00673.hp1 HG00738.hp1 HG00741.hp2 HG01081.hp2 HG01106.hp2 HG01167.hp1 HG01255.hp1 HG01261.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01934.hp1 HG01981.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02155.hp2 HG02165.hp2 HG02280.hp2 HG02293.hp2 HG02486.hp2 HG02523.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02895.hp2 HG02897.hp2 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03654.hp2 HG03927.hp1 HG04184.hp2 NA18906.hp1 NA18942.hp1 NA18945.hp1 NA18947.hp1 NA18949.hp1 NA18950.hp1 NA18952.hp2 NA18954.hp1 NA18957.hp2 NA18960.hp2 NA18961.hp2 NA18966.hp2 NA18969.hp2 NA18971.hp1 NA18990.hp2 NA18999.hp1 NA19000.hp2 NA19003.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19056.hp1 NA19074.hp2 NA19081.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp1	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0006 a0019 a0020	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0014 a0001c0021 a0002c0007 a0005c0010 a0006c0011 a0019c0019 a0020c0023	a0001c0001t0001 a0001c0001t0009 a0001c0001t0015 others(17): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0015 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0002t0003 a0001c0002t0011 a0001c0002t0012 a0001c0003t0001 a0001c0003t0008 a0001c0008t0003 a0001c0014t0001 a0001c0021t0001 a0002c0007t0009 a0005c0010t0001 a0006c0011t0008 a0019c0019t0003 a0020c0023t0001	a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 others(71): Show a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0304 a0001c0001t0001g0315 a0001c0001t0001g0318 a0001c0001t0001g0339 a0001c0001t0009g0242 a0001c0001t0009g0253 a0001c0001t0009g0264 a0001c0001t0015g0307 a0001c0001t0015g0308 a0001c0001t0015g0309 a0001c0001t0020g0237 a0001c0001t0023g0317 a0001c0001t0024g0236 a0001c0001t0026g0314 a0001c0002t0003g0301 a0001c0002t0003g0321 a0001c0002t0003g0337 a0001c0002t0011g0322 a0001c0002t0011g0336 a0001c0002t0012g0274 a0001c0003t0001g0316 a0001c0003t0001g0319 a0001c0003t0008g0247 a0001c0008t0003g0302 a0001c0008t0003g0338 a0001c0014t0001g0230 a0001c0014t0001g0320 a0001c0021t0001g0272 a0002c0007t0009g0227 a0005c0010t0001g0238 a0005c0010t0001g0250 a0005c0010t0001g0258 a0005c0010t0001g0268 a0006c0011t0008g0310 a0006c0011t0008g0311 a0006c0011t0008g0312 a0006c0011t0008g0313 a0019c0019t0003g0300 a0020c0023t0001g0340	74	338	0.2189	-108	c.-14 others(19): Show c.-148+2048_-148+2155del		PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	1/23					INFO_REALIGN_3_PRIME	chr22	TogoVar
PRKAG2_chr7_151551127_151882115	151820518	TCTGCAGG others(101): Show TCTGCAGGGCACACTCTACTCGGAACACCGCTCCGTGGCCTGGCCCCTGT GGCTTCTGCAGGGCACACTCTACTCGGAACACCGCTCCGTGGCCTGGCCC CTCTGGCTA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA20805.hp1 HG01243.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0176 a0001c0001t0002g0078 a0001c0001t0001g0176 a0001c0001t0002g0078	2	250	0.0080	-108	c.115 others(19): Show c.115-34085_115-33978del		PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15						chr7	TogoVar
PRKAG2_chr7_151551127_151882115	151820539	GGAACACC others(101): Show GGAACACCGCTCCGTGGCCTGGCCCCTGTGGCTTCTGCAGGGCACACTCT ACTCGGAACACCGCTCCGTGGCCTGGCCCCTCTGGCTACTGCAGGGCACA CTCTACTCT	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp2 HG01071.hp1 others(26): Show HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01257.hp2 HG01258.hp2 HG01516.hp2 HG01934.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02080.hp1 HG02602.hp1 HG02818.hp1 HG03017.hp1 HG03017.hp2 HG03195.hp2 HG03239.hp1 HG03490.hp2 HG03492.hp2 HG03669.hp1 HG03688.hp2 HG03831.hp2 HG04115.hp1 HG04115.hp2 NA18945.hp1 NA19002.hp1 NA19007.hp2 NA19010.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0002c0004 others(1): Show a0001c0001 a0001c0002 a0002c0004 a0006c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0002t0007 a0002c0004t0023 a0006c0013t0001	a0001c0001t0001g0035 a0001c0001t0001g0072 a0001c0001t0001g0082 others(26): Show a0001c0001t0001g0035 a0001c0001t0001g0072 a0001c0001t0001g0082 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0116 a0001c0001t0001g0191 a0001c0001t0001g0204 a0001c0001t0002g0034 a0001c0001t0002g0054 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0081 a0001c0001t0002g0094 a0001c0001t0002g0123 a0001c0001t0002g0155 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0003g0161 a0001c0001t0004g0241 a0001c0001t0004g0247 a0001c0001t0011g0216 a0001c0001t0013g0069 a0001c0001t0013g0070 a0001c0001t0014g0129 a0001c0001t0014g0130 a0001c0002t0007g0084 a0002c0004t0023g0087 a0006c0013t0001g0208	29	250	0.1160	-108	c.115 others(19): Show c.115-34106_115-33999del		PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15						chr7	TogoVar
PRKCA_chr17_66297613_66815743	66799439	ATGGTGGT others(101): Show ATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGGTGGTGGTGATGGTAATGGTGGTGGTGATGGTGGTGG TAGTGACGG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0166 a0001c0001t0003g0166	1	108	0.0093	-108	c.185 others(19): Show c.1855-4419_1855-4312del		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCB_chr16_23830983_24225611	24049397	CTACCCTG others(101): Show CTACCCTGGCACATCCAGGACCTGCAACCTTAACCACTAACCTGGCACAT CCAGGACCTGCACCGTTAACCACTAACCTGGCACAACCAGGACATGTGCC CTTAACTAT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00609.hp1 HG00642.hp1 others(27): Show HG00423.hp2 HG00609.hp1 HG00642.hp1 HG01070.hp1 HG01071.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01496.hp2 HG02132.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02630.hp1 HG02698.hp1 HG02809.hp1 HG02965.hp2 HG03017.hp2 HG03704.hp2 NA18943.hp2 NA18969.hp2 NA18991.hp1 NA18998.hp1 NA19240.hp1 NA20752.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0010 a0001c0011 a0001c0013 a0001c0016	a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 others(23): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 a0001c0001t0015 a0001c0001t0021 a0001c0001t0032 a0001c0001t0066 a0001c0002t0012 a0001c0002t0034 a0001c0002t0043 a0001c0002t0059 a0001c0003t0001 a0001c0003t0007 a0001c0003t0026 a0001c0004t0002 a0001c0004t0007 a0001c0004t0009 a0001c0004t0013 a0001c0005t0005 a0001c0005t0015 a0001c0007t0025 a0001c0010t0061 a0001c0010t0088 a0001c0011t0063 a0001c0013t0047 a0001c0016t0004	a0001c0001t0004g0086 a0001c0001t0004g0106 a0001c0001t0007g0004 others(27): Show a0001c0001t0004g0086 a0001c0001t0004g0106 a0001c0001t0007g0004 a0001c0001t0011g0112 a0001c0001t0015g0074 a0001c0001t0021g0006 a0001c0001t0032g0130 a0001c0001t0066g0007 a0001c0002t0012g0141 a0001c0002t0034g0084 a0001c0002t0043g0058 a0001c0002t0059g0096 a0001c0003t0001g0134 a0001c0003t0007g0062 a0001c0003t0007g0063 a0001c0003t0026g0113 a0001c0004t0002g0009 a0001c0004t0002g0010 a0001c0004t0002g0039 a0001c0004t0007g0041 a0001c0004t0009g0092 a0001c0004t0013g0044 a0001c0005t0005g0034 a0001c0005t0015g0038 a0001c0007t0025g0050 a0001c0010t0061g0111 a0001c0010t0088g0099 a0001c0011t0063g0064 a0001c0013t0047g0047 a0001c0016t0004g0133	30	146	0.2055	-108	c.529 others(19): Show c.529+13863_529+13970del		PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	5/16					INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCZ_chr1_2045411_2190395	2121497	GTTAGGAT others(101): Show GTTAGGATCATGGTGGTACTTAAGGTCATGGCAGTAGTTAGGGTTATATC AGTAGTTAGGGCTATGGCTGTAGTTAGGGTGATGGTGGTAGTTAAGGTCA CAGCAGTAA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01069.hp2 HG03017.hp2 others(3): Show HG00408.hp2 HG01069.hp2 HG03017.hp2 NA19010.hp2 NA19011.hp2 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0003t0003 a0001c0002t0001 a0001c0003t0001 a0001c0003t0003	a0001c0002t0001g0197 a0001c0002t0001g0214 a0001c0002t0001g0217 others(3): Show a0001c0002t0001g0197 a0001c0002t0001g0214 a0001c0002t0001g0217 a0001c0002t0001g0219 a0001c0003t0001g0115 a0001c0003t0003g0186	6	282	0.0213	-108	c.335 others(19): Show c.335-13759_335-13652del		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122087	CGTGGTGG others(101): Show CGTGGTGGTTAGGGTCATGGTGGTGGTTAGGGTCACGGTGGTGGTTAGGG TCGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCGTGGTGGTTAGGGTTGTG GTGGTTAGG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0217 a0001c0002t0001g0217	1	100	0.0100	-108	c.335 others(19): Show c.335-13166_335-13059del		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122141	GGTGGTTA others(101): Show GGTGGTTAGGGTCGTGGTGGTTAGGGTCGTGGTGGTTAGGGTTGTGGTGG TTAGGGTGGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCGTGGCGGTG GTTAGGGTT	G G	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0158 a0001c0002t0001g0158	1	258	0.0039	-108	c.335 others(19): Show c.335-13115_335-13008del		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122619	GGTGGTGG others(101): Show GGTGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGG CGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTG GTTAGGGTC	G G	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0014 a0001c0001t0015g0014	1	271	0.0037	-108	c.335 others(19): Show c.335-12628_335-12521del		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122652	GGTGGTTA others(101): Show GGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGG TGGTTAGGGTTGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCGTGGCGGTG GTTAGGGTT	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02602.hp1 HG02683.hp1 HG00639.hp2 HG02602.hp1 HG02683.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0148 a0001c0002t0001g0243 a0001c0003t0001g0266 a0001c0002t0001g0148 a0001c0002t0001g0243 a0001c0003t0001g0266	3	249	0.0120	-108	c.335 others(19): Show c.335-12604_335-12497del		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2124267	AGTTAGGG others(101): Show AGTTAGGGTCACGGCTGTAGTTAGCGTCACGGTGGTAGTTAGGGTCACGG TGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCACGGCGGTGGTTAGGGTC ACGGCGGCG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	205	0.0049	-108	c.335 others(19): Show c.335-10980_335-10873del		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PROZ_chr13_113153648_113177386	113154182	GGAGGGGC others(101): Show GGAGGGGCGTGGGGGGGCGGGCCGTGGGGGAGGAGGGGCGTGGGGGGGCG GGCCGTGGGGGAGGAGGGGCGTGGGGGGCGGGGCGTCGGGGAGGGCAGGG GCACGTGAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0180 a0001c0001t0002g0180	1	375	0.0027	-108	c.-44 others(11): Show c.-4478_-4371del		PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding					4465		chr13	TogoVar
PRR5L_chr11_36291288_36470204	36351575	ATAAATAT others(101): Show ATAAATATATATTTATATATTTATATAAATATATATTTATATATTTATAT ATTTATATAAATATATATTTATATATTTATATAAATATATATTTATATAC TTATATATT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00621.hp1 HG01175.hp1 others(9): Show HG00438.hp1 HG00621.hp1 HG01175.hp1 HG01192.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG03017.hp2 NA18999.hp1 NA19004.hp2 NA19010.hp2 NA19091.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0002 a0002c0005 others(1): Show a0001c0001 a0001c0002 a0002c0005 a0010c0017	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0002c0005t0001 a0010c0017t0007	a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0203 others(9): Show a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0199 a0001c0001t0002g0201 a0001c0001t0002g0216 a0001c0002t0001g0198 a0002c0005t0001g0138 a0010c0017t0007g0259	12	200	0.0600	-108	c.-12 others(21): Show c.-125-49419_-125-49312del		PRR5L	ENSG00000135362.14	transcript	ENST00000530639.6	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
PRR7_chr5_177441814_177461286	177451397	GCCCACCC others(101): Show GCCCACCCTCAGGCAGGGAGCACCCTGTAGCCTGCTTCGGAGAGTGAGTG TGGAGCCCACCCTCAGGCAGGGAGCACCCTGTAGCCTGCTTCGGAGAGTG AGTGTGGAA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp2 HG02145.hp2 others(24): Show HG02055.hp1 HG02055.hp2 HG02145.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02809.hp1 HG02886.hp2 HG02970.hp1 HG03098.hp2 HG03139.hp1 HG03453.hp2 HG03688.hp1 HG03927.hp2 HG06807.hp1 NA18522.hp2 NA19030.hp2 NA19043.hp1 NA19240.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0002c0003t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 others(10): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0039 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0004g0028 a0001c0001t0008g0011 a0002c0003t0001g0030	27	330	0.0818	-108	c.-32 others(19): Show c.-324-2451_-324-2344del		PRR7	ENSG00000131188.12	transcript	ENST00000323249.8	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
PRR7_chr5_177441814_177461286	177451505	ACCCACCC others(101): Show ACCCACCCTCAGGCAGGGAGCACCCTGTAGCCTGCTTCGGAGAGTGAGTG TGGAGCCCACCCTCAGGCAGGGAGCACCCTGTAGCCTGCTTCGGAGAGTG AGTGTGGAG	A A	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	216	0.0046	-108	c.-32 others(19): Show c.-324-2350_-324-2243del		PRR7	ENSG00000131188.12	transcript	ENST00000323249.8	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
PRSS57_chr19_680546_700452	689114	AGGGTGGT others(101): Show AGGGTGGTCCAGGGGTTAGCAGGTGACGACGGTGCTAGAAGGGTGGTCCA GGGGTTAGCAGGTGACGACGGGGCTGGAAGGGTGGTCCACAGGTTAGCAG GTGACGACG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00408.hp2 others(46): Show HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00673.hp1 HG01175.hp1 HG01192.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02132.hp2 HG02572.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02976.hp1 HG03209.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03579.hp1 HG03834.hp1 HG03927.hp1 HG04204.hp1 NA18522.hp2 NA18940.hp2 NA18943.hp1 NA18950.hp2 NA18951.hp1 NA18956.hp2 NA18972.hp1 NA18982.hp2 NA18991.hp1 NA18997.hp1 NA19002.hp1 NA19007.hp2 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19074.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0012 others(1): Show a0001c0001 a0001c0002 a0001c0012 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0012t0005 a0002c0003t0001	a0001c0001t0001g0004 a0001c0001t0001g0023 a0001c0001t0001g0036 others(26): Show a0001c0001t0001g0004 a0001c0001t0001g0023 a0001c0001t0001g0036 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0051 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0148 a0001c0001t0001g0159 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0002g0092 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0002t0001g0121 a0001c0012t0005g0056 a0002c0003t0001g0138 a0002c0003t0001g0142	49	439	0.1116	-108	c.379 others(17): Show c.379-2034_379-1927del		PRSS57	ENSG00000185198.12	transcript	ENST00000329267.9	protein_coding	3/4						chr19	TogoVar
PRSS57_chr19_680546_700452	689150	AGAAGGGT others(101): Show AGAAGGGTGGTCCAGGGGTTAGCAGGTGACGACGGGGCTGGAAGGGTGGT CCACAGGTTAGCAGGTGACGACGGGGTGGTCCAGGGGTTAGCAGGAGATG ACGGGGCCG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03195.hp1 HG03486.hp2 HG02559.hp1 HG03195.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0143 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0143	3	327	0.0092	-108	c.379 others(17): Show c.379-2070_379-1963del		PRSS57	ENSG00000185198.12	transcript	ENST00000329267.9	protein_coding	3/4						chr19	TogoVar
PTDSS2_chr11_445279_496399	469295	AGGGGAGT others(101): Show AGGGGAGTCTCTGGGTAATCGGAGGGAGGAGGAGGGCAGTCTCTGGGTAA TCGGAGGGAGGAGGAGGGGAGTCTCTGGGTAATCGGAGGGAGGAGGAGGG GAGTCTCCG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(119): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00741.hp1 HG01069.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01516.hp1 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01975.hp2 HG01993.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp2 HG02074.hp1 HG02109.hp1 HG02132.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02723.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp2 HG03834.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18945.hp1 NA18946.hp1 NA18951.hp2 NA18964.hp1 NA18967.hp1 NA18967.hp2 NA18978.hp1 NA18978.hp2 NA18984.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19009.hp2 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19064.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19081.hp1 NA19083.hp2 NA20129.hp2 NA20300.hp1 NA20905.hp1 NA21309.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0001c0010 a0002c0003 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0016 a0001c0001t0017 a0001c0002t0010 a0001c0006t0001 a0001c0010t0002 a0002c0003t0005 a0002c0003t0006 a0002c0003t0008 a0004c0007t0012	a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 others(110): Show a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0002g0009 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0059 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0121 a0001c0001t0002g0195 a0001c0001t0002g0297 a0001c0001t0003g0010 a0001c0001t0003g0037 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0077 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0092 a0001c0001t0003g0094 a0001c0001t0003g0115 a0001c0001t0006g0185 a0001c0001t0007g0057 a0001c0001t0007g0062 a0001c0001t0007g0064 a0001c0001t0007g0066 a0001c0001t0009g0034 a0001c0001t0009g0058 a0001c0001t0009g0061 a0001c0001t0010g0053 a0001c0001t0016g0107 a0001c0001t0017g0060 a0001c0002t0010g0204 a0001c0006t0001g0019 a0001c0006t0001g0166 a0001c0006t0001g0167 a0001c0010t0002g0084 a0002c0003t0005g0020 a0002c0003t0005g0021 a0002c0003t0005g0184 a0002c0003t0005g0187 a0002c0003t0005g0188 a0002c0003t0005g0189 a0002c0003t0005g0190 a0002c0003t0005g0191 a0002c0003t0005g0193 a0002c0003t0006g0192 a0002c0003t0006g0194 a0002c0003t0008g0169 a0002c0003t0008g0170 a0002c0003t0008g0171 a0002c0003t0008g0172 a0004c0007t0012g0299	122	344	0.3547	-108	c.285 others(17): Show c.285-4583_285-4476del		PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr11	TogoVar
PTGES_chr9_129733349_129758042	129735940	ACATCCCC others(101): Show ACATCCCCAACACCCACCCCACCCCACCCCTCCCTTCCATGTCCCAATCT TCCCCCACAACCACCCCGACCCCTGCCCCTCCTTTCCATACCCACCCCTC CCCCACACT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01168.hp2 HG01169.hp2 others(36): Show HG00639.hp1 HG01168.hp2 HG01169.hp2 HG01256.hp2 HG01891.hp2 HG02055.hp1 HG02145.hp2 HG02258.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG03942.hp2 HG04184.hp1 NA19030.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0002c0006 a0002c0008	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(21): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0019 a0001c0001t0020 a0001c0001t0025 a0001c0001t0028 a0001c0001t0032 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0011 a0001c0002t0012 a0001c0002t0013 a0001c0003t0007 a0001c0003t0026 a0001c0003t0030 a0002c0006t0027 a0002c0008t0035	a0001c0001t0002g0102 a0001c0001t0003g0187 a0001c0001t0006g0189 others(26): Show a0001c0001t0002g0102 a0001c0001t0003g0187 a0001c0001t0006g0189 a0001c0001t0007g0015 a0001c0001t0008g0050 a0001c0001t0008g0126 a0001c0001t0009g0079 a0001c0001t0011g0229 a0001c0001t0013g0219 a0001c0001t0019g0215 a0001c0001t0020g0070 a0001c0001t0025g0243 a0001c0001t0028g0188 a0001c0001t0032g0235 a0001c0002t0001g0256 a0001c0002t0004g0052 a0001c0002t0005g0006 a0001c0002t0005g0053 a0001c0002t0005g0259 a0001c0002t0011g0255 a0001c0002t0011g0257 a0001c0002t0012g0248 a0001c0002t0012g0252 a0001c0002t0013g0246 a0001c0003t0007g0236 a0001c0003t0026g0238 a0001c0003t0030g0240 a0002c0006t0027g0225 a0002c0008t0035g0253	39	424	0.0920	-108	c.35 others(11): Show c.3563_*3670del		PTGES	ENSG00000148344.11	transcript	ENST00000340607.5	protein_coding					2408		chr9	TogoVar
RANBP17_chr5_170857018_171305015	170916079	ATTATATT others(101): Show ATTATATTCTATATTGCATTATCATGCGTTATATTCTATATTGCATTATC ATGCGTTATATTCTATATTGCATTATAATGCGTTATATTCTATATTGCAT TATAATGCG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp2 HG00544.hp2 others(78): Show HG00280.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00733.hp2 HG00735.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp2 HG01106.hp1 HG01175.hp2 HG01255.hp1 HG01261.hp1 HG01358.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01978.hp1 HG01981.hp2 HG02004.hp1 HG02027.hp2 HG02055.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02155.hp1 HG02257.hp2 HG02451.hp1 HG02486.hp1 HG02602.hp1 HG02647.hp1 HG02683.hp1 HG02723.hp1 HG02738.hp1 HG02886.hp1 HG02896.hp1 HG02922.hp1 HG02976.hp1 HG03041.hp2 HG03209.hp2 HG03453.hp1 HG03491.hp2 HG03492.hp2 HG03669.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG06807.hp2 NA18612.hp1 NA18940.hp2 NA18949.hp1 NA18953.hp2 NA18962.hp1 NA18965.hp1 NA18966.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18989.hp1 NA19000.hp1 NA19005.hp1 NA19006.hp1 NA19043.hp1 NA19064.hp1 NA19070.hp2 NA19080.hp1 NA19085.hp1 NA20129.hp1 NA20752.hp2 NA21309.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0010 a0011 a0012 a0013	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0015 a0002c0004 a0003c0007 a0005c0006 a0010c0009 a0011c0017 a0012c0005 a0013c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0002t0003 a0001c0002t0009 a0001c0003t0001 a0001c0003t0002 a0001c0015t0001 a0002c0004t0001 a0002c0004t0003 a0002c0004t0006 a0003c0007t0001 a0005c0006t0001 a0010c0009t0001 a0011c0017t0001 a0012c0005t0001 a0013c0010t0001	a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 others(78): Show a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0002g0018 a0001c0001t0002g0053 a0001c0001t0003g0082 a0001c0001t0004g0052 a0001c0001t0004g0055 a0001c0001t0004g0065 a0001c0001t0004g0067 a0001c0001t0006g0096 a0001c0001t0011g0075 a0001c0002t0003g0097 a0001c0002t0009g0064 a0001c0003t0001g0023 a0001c0003t0001g0042 a0001c0003t0001g0043 a0001c0003t0002g0032 a0001c0003t0002g0033 a0001c0015t0001g0083 a0002c0004t0001g0098 a0002c0004t0003g0071 a0002c0004t0006g0072 a0003c0007t0001g0057 a0005c0006t0001g0015 a0010c0009t0001g0039 a0011c0017t0001g0056 a0012c0005t0001g0073 a0013c0010t0001g0024	81	185	0.4378	-108	c.835 others(15): Show c.835-364_835-257del		RANBP17	ENSG00000204764.14	transcript	ENST00000523189.6	protein_coding	8/27					INFO_REALIGN_3_PRIME	chr5	TogoVar
RAPGEF5_chr7_22113236_22362154	22163113	TTTTCATT others(101): Show TTTTCATTTTAAAATAAAATGAAAATTATTTCATTTTAAAATAAAATGAA AATTATTTCATTTTAAAATAAAATGAAAATTATTTCATTTTAAAATAAAA TGAAAATTA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(316): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0004 others(6): Show a0001 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010	a0001c0001 a0001c0002 a0001c0004 others(17): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0013 a0001c0015 a0001c0016 a0001c0019 a0001c0021 a0001c0022 a0003c0007 a0004c0009 a0005c0018 a0006c0011 a0007c0020 a0008c0017 a0009c0010 a0010c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(199): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0041 a0001c0001t0044 a0001c0001t0046 a0001c0001t0048 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0099 a0001c0001t0102 a0001c0001t0104 a0001c0001t0106 a0001c0001t0107 a0001c0001t0108 a0001c0001t0109 a0001c0001t0113 a0001c0001t0115 a0001c0001t0116 a0001c0001t0117 a0001c0001t0118 a0001c0001t0119 a0001c0001t0120 a0001c0001t0121 a0001c0001t0123 a0001c0001t0124 a0001c0001t0125 a0001c0001t0126 a0001c0001t0127 a0001c0001t0128 a0001c0001t0144 a0001c0001t0145 a0001c0001t0146 a0001c0001t0148 a0001c0001t0149 a0001c0001t0155 a0001c0001t0158 a0001c0001t0159 a0001c0001t0160 a0001c0001t0161 a0001c0001t0165 a0001c0001t0166 a0001c0001t0167 a0001c0001t0169 a0001c0001t0171 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0009 a0001c0002t0010 a0001c0002t0012 a0001c0002t0013 a0001c0002t0015 a0001c0002t0016 a0001c0002t0017 a0001c0002t0018 a0001c0002t0020 a0001c0002t0021 a0001c0002t0024 a0001c0002t0026 a0001c0002t0028 a0001c0002t0030 a0001c0002t0031 a0001c0002t0032 a0001c0002t0033 a0001c0002t0034 a0001c0002t0035 a0001c0002t0039 a0001c0002t0041 a0001c0002t0042 a0001c0002t0056 a0001c0002t0057 a0001c0002t0072 a0001c0002t0073 a0001c0002t0074 a0001c0002t0075 a0001c0002t0076 a0001c0002t0077 a0001c0002t0078 a0001c0002t0079 a0001c0002t0080 a0001c0002t0081 a0001c0002t0085 a0001c0002t0086 a0001c0002t0087 a0001c0002t0088 a0001c0002t0089 a0001c0002t0091 a0001c0002t0092 a0001c0002t0093 a0001c0002t0100 a0001c0002t0101 a0001c0002t0103 a0001c0002t0105 a0001c0002t0110 a0001c0002t0111 a0001c0002t0129 a0001c0002t0130 a0001c0002t0132 a0001c0002t0133 a0001c0002t0134 a0001c0002t0135 a0001c0002t0136 a0001c0002t0137 a0001c0002t0138 a0001c0002t0139 a0001c0002t0140 a0001c0002t0141 a0001c0002t0142 a0001c0002t0143 a0001c0002t0150 a0001c0002t0151 a0001c0002t0152 a0001c0002t0153 a0001c0002t0154 a0001c0002t0156 a0001c0002t0157 a0001c0002t0162 a0001c0002t0163 a0001c0002t0168 a0001c0002t0170 a0001c0004t0001 a0001c0004t0018 a0001c0004t0040 a0001c0004t0047 a0001c0005t0002 a0001c0005t0012 a0001c0005t0043 a0001c0006t0006 a0001c0006t0049 a0001c0008t0164 a0001c0013t0018 a0001c0015t0006 a0001c0016t0112 a0001c0019t0003 a0001c0021t0040 a0001c0022t0005 a0003c0007t0019 a0003c0007t0090 a0004c0009t0147 a0005c0018t0114 a0006c0011t0055 a0007c0020t0005 a0008c0017t0024 a0009c0010t0007 a0010c0012t0131	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(315): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0053 a0001c0001t0001g0106 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0315 a0001c0001t0002g0034 a0001c0001t0002g0042 a0001c0001t0002g0050 a0001c0001t0002g0056 a0001c0001t0002g0253 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0045 a0001c0001t0003g0203 a0001c0001t0003g0249 a0001c0001t0003g0313 a0001c0001t0003g0316 a0001c0001t0004g0066 a0001c0001t0004g0298 a0001c0001t0004g0303 a0001c0001t0005g0057 a0001c0001t0005g0099 a0001c0001t0005g0187 a0001c0001t0005g0272 a0001c0001t0005g0281 a0001c0001t0006g0049 a0001c0001t0006g0076 a0001c0001t0006g0116 a0001c0001t0006g0277 a0001c0001t0007g0092 a0001c0001t0007g0117 a0001c0001t0008g0010 a0001c0001t0008g0033 a0001c0001t0008g0036 a0001c0001t0008g0239 a0001c0001t0008g0304 a0001c0001t0009g0104 a0001c0001t0009g0283 a0001c0001t0009g0314 a0001c0001t0010g0022 a0001c0001t0010g0177 a0001c0001t0011g0038 a0001c0001t0011g0068 a0001c0001t0011g0162 a0001c0001t0011g0176 a0001c0001t0011g0190 a0001c0001t0013g0172 a0001c0001t0014g0078 a0001c0001t0014g0081 a0001c0001t0014g0085 a0001c0001t0014g0146 a0001c0001t0015g0100 a0001c0001t0016g0067 a0001c0001t0016g0069 a0001c0001t0016g0155 a0001c0001t0017g0087 a0001c0001t0017g0217 a0001c0001t0017g0259 a0001c0001t0019g0127 a0001c0001t0019g0158 a0001c0001t0020g0179 a0001c0001t0022g0083 a0001c0001t0022g0113 a0001c0001t0023g0130 a0001c0001t0023g0131 a0001c0001t0025g0144 a0001c0001t0025g0145 a0001c0001t0026g0035 a0001c0001t0027g0039 a0001c0001t0027g0058 a0001c0001t0029g0218 a0001c0001t0029g0220 a0001c0001t0030g0197 a0001c0001t0035g0173 a0001c0001t0036g0097 a0001c0001t0036g0101 a0001c0001t0037g0182 a0001c0001t0037g0183 a0001c0001t0038g0157 a0001c0001t0038g0192 a0001c0001t0039g0199 a0001c0001t0041g0262 a0001c0001t0044g0250 a0001c0001t0044g0273 a0001c0001t0046g0234 a0001c0001t0048g0291 a0001c0001t0050g0238 a0001c0001t0051g0256 a0001c0001t0052g0164 a0001c0001t0053g0240 a0001c0001t0054g0327 a0001c0001t0058g0228 a0001c0001t0059g0123 a0001c0001t0060g0122 a0001c0001t0061g0037 a0001c0001t0062g0141 a0001c0001t0063g0189 a0001c0001t0064g0082 a0001c0001t0065g0289 a0001c0001t0066g0079 a0001c0001t0067g0305 a0001c0001t0068g0243 a0001c0001t0069g0244 a0001c0001t0070g0306 a0001c0001t0082g0255 a0001c0001t0083g0060 a0001c0001t0084g0118 a0001c0001t0094g0040 a0001c0001t0095g0084 a0001c0001t0096g0312 a0001c0001t0097g0282 a0001c0001t0098g0297 a0001c0001t0099g0221 a0001c0001t0102g0160 a0001c0001t0104g0147 a0001c0001t0106g0196 a0001c0001t0107g0274 a0001c0001t0108g0166 a0001c0001t0109g0254 a0001c0001t0113g0248 a0001c0001t0115g0086 a0001c0001t0116g0137 a0001c0001t0117g0206 a0001c0001t0118g0317 a0001c0001t0119g0237 a0001c0001t0120g0159 a0001c0001t0121g0015 a0001c0001t0123g0140 a0001c0001t0124g0009 a0001c0001t0125g0143 a0001c0001t0126g0251 a0001c0001t0127g0180 a0001c0001t0128g0178 a0001c0001t0144g0139 a0001c0001t0145g0231 a0001c0001t0146g0148 a0001c0001t0148g0150 a0001c0001t0149g0080 a0001c0001t0155g0090 a0001c0001t0158g0235 a0001c0001t0159g0223 a0001c0001t0160g0048 a0001c0001t0161g0161 a0001c0001t0165g0186 a0001c0001t0166g0041 a0001c0001t0167g0133 a0001c0001t0169g0168 a0001c0001t0171g0152 a0001c0002t0001g0001 a0001c0002t0001g0016 a0001c0002t0001g0024 a0001c0002t0001g0061 a0001c0002t0001g0063 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0077 a0001c0002t0001g0096 a0001c0002t0001g0105 a0001c0002t0001g0110 a0001c0002t0001g0163 a0001c0002t0001g0167 a0001c0002t0001g0174 a0001c0002t0001g0181 a0001c0002t0001g0301 a0001c0002t0001g0318 a0001c0002t0002g0044 a0001c0002t0002g0111 a0001c0002t0002g0120 a0001c0002t0002g0193 a0001c0002t0002g0320 a0001c0002t0003g0054 a0001c0002t0003g0102 a0001c0002t0003g0115 a0001c0002t0003g0279 a0001c0002t0004g0030 a0001c0002t0004g0074 a0001c0002t0004g0089 a0001c0002t0004g0151 a0001c0002t0004g0215 a0001c0002t0005g0018 a0001c0002t0005g0098 a0001c0002t0005g0204 a0001c0002t0006g0017 a0001c0002t0006g0064 a0001c0002t0007g0209 a0001c0002t0007g0252 a0001c0002t0007g0299 a0001c0002t0007g0322 a0001c0002t0007g0326 a0001c0002t0008g0108 a0001c0002t0009g0019 a0001c0002t0009g0020 a0001c0002t0009g0276 a0001c0002t0010g0023 a0001c0002t0010g0175 a0001c0002t0010g0211 a0001c0002t0012g0047 a0001c0002t0012g0055 a0001c0002t0013g0062 a0001c0002t0013g0088 a0001c0002t0013g0093 a0001c0002t0013g0119 a0001c0002t0015g0002 a0001c0002t0015g0025 a0001c0002t0015g0278 a0001c0002t0016g0290 a0001c0002t0017g0191 a0001c0002t0018g0003 a0001c0002t0018g0029 a0001c0002t0020g0319 a0001c0002t0020g0325 a0001c0002t0021g0043 a0001c0002t0021g0094 a0001c0002t0021g0213 a0001c0002t0024g0134 a0001c0002t0026g0324 a0001c0002t0028g0229 a0001c0002t0028g0230 a0001c0002t0030g0021 a0001c0002t0031g0171 a0001c0002t0031g0205 a0001c0002t0032g0032 a0001c0002t0032g0124 a0001c0002t0033g0226 a0001c0002t0033g0227 a0001c0002t0034g0004 a0001c0002t0034g0270 a0001c0002t0035g0006 a0001c0002t0039g0212 a0001c0002t0041g0268 a0001c0002t0042g0149 a0001c0002t0042g0260 a0001c0002t0056g0136 a0001c0002t0057g0135 a0001c0002t0072g0287 a0001c0002t0073g0302 a0001c0002t0074g0008 a0001c0002t0075g0200 a0001c0002t0076g0201 a0001c0002t0077g0091 a0001c0002t0078g0246 a0001c0002t0079g0280 a0001c0002t0080g0013 a0001c0002t0081g0207 a0001c0002t0085g0005 a0001c0002t0086g0247 a0001c0002t0087g0216 a0001c0002t0088g0286 a0001c0002t0089g0323 a0001c0002t0091g0169 a0001c0002t0092g0121 a0001c0002t0093g0165 a0001c0002t0100g0232 a0001c0002t0101g0202 a0001c0002t0103g0185 a0001c0002t0105g0184 a0001c0002t0110g0294 a0001c0002t0111g0153 a0001c0002t0129g0245 a0001c0002t0130g0075 a0001c0002t0132g0225 a0001c0002t0133g0109 a0001c0002t0134g0266 a0001c0002t0135g0241 a0001c0002t0136g0261 a0001c0002t0137g0288 a0001c0002t0138g0059 a0001c0002t0139g0242 a0001c0002t0140g0257 a0001c0002t0141g0271 a0001c0002t0142g0307 a0001c0002t0143g0128 a0001c0002t0150g0095 a0001c0002t0151g0138 a0001c0002t0152g0233 a0001c0002t0153g0308 a0001c0002t0154g0210 a0001c0002t0156g0236 a0001c0002t0157g0321 a0001c0002t0162g0107 a0001c0002t0163g0269 a0001c0002t0168g0188 a0001c0002t0170g0284 a0001c0004t0001g0264 a0001c0004t0001g0311 a0001c0004t0018g0309 a0001c0004t0040g0310 a0001c0004t0047g0265 a0001c0005t0002g0285 a0001c0005t0012g0052 a0001c0005t0043g0051 a0001c0006t0006g0293 a0001c0006t0049g0292 a0001c0008t0164g0007 a0001c0013t0018g0300 a0001c0015t0006g0198 a0001c0016t0112g0208 a0001c0019t0003g0065 a0001c0021t0040g0103 a0001c0022t0005g0329 a0003c0007t0019g0195 a0003c0007t0090g0194 a0004c0009t0147g0267 a0005c0018t0114g0170 a0006c0011t0055g0328 a0007c0020t0005g0142 a0008c0017t0024g0263 a0009c0010t0007g0112 a0010c0012t0131g0156	319	325	0.9815	-108	c.128 others(17): Show c.1284-680_1284-573del		RAPGEF5	ENSG00000136237.20	transcript	ENST00000665637.1	protein_coding	12/25						chr7	TogoVar
RASA3_chr13_113972783_114137623	114006148	CCCTCCTG others(101): Show CCCTCCTGCCCTGCTGGACACCACCTTACCCTTCTCCCCTCCTGCCCTGC CGGACGCCACCTTACCCTTCTCCCCACTCCTGCCCTGCCGGATGCCACCT TACCCTTCT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02300.hp1 HG01433.hp2 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0012 a0001c0001t0006g0013 a0001c0001t0006g0012 a0001c0001t0006g0013	2	66	0.0303	-108	c.174 others(19): Show c.1742+1277_1742+1384del		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	18/23						chr13	TogoVar
RASA3_chr13_113972783_114137623	114034887	TCTGAACG others(101): Show TCTGAACGCTGACCTGAGCTTAGAGCAGAAGGGAGATCTGAACGCTGACC TGAGCTTAGAGCAGAAGGGAGATCTGAACGCTGACCTGAGCTTAGAGCAG AAGGGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp2 NA18954.hp2 others(1): Show HG01993.hp1 HG01993.hp2 NA18954.hp2 NA18971.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0020 a0001c0003t0003g0021 a0001c0003t0003g0022 others(1): Show a0001c0003t0003g0020 a0001c0003t0003g0021 a0001c0003t0003g0022 a0001c0003t0003g0030	4	66	0.0606	-108	c.373 others(17): Show c.373-5108_373-5001del		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	4/23						chr13	TogoVar
RASA3_chr13_113972783_114137623	114075444	CGCCTCCC others(101): Show CGCCTCCCGTGTCCGCGCCGCGTATCTCTGCGTGTGGAGGCACCGGCAGG ACGAAGCCTCCCGTGTCGGCGCCGCGTATCTCTGGGTGTGGAGGCGCCGG CAGGACGAA	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00639.hp1 HG00733.hp2 others(18): Show HG00621.hp2 HG00639.hp1 HG00733.hp2 HG01167.hp2 HG01175.hp2 HG01361.hp1 HG01433.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02559.hp1 HG02723.hp1 HG02738.hp2 HG03130.hp2 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18954.hp1 NA18973.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0001 a0001c0001t0005 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0002 a0001c0009t0008	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0009 others(18): Show a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0005g0023 a0001c0002t0002g0004 a0001c0009t0008g0048	21	61	0.3443	-108	c.56- others(15): Show c.56-1715_56-1608del		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23						chr13	TogoVar
RASA3_chr13_113972783_114137623	114075610	TCCCGTGT others(101): Show TCCCGTGTCCGCACCGCGTATCTCTGCGTGTGGAGGCGCCGGCAGGACGA AGCCTCCCGTGTCCGCACCGCGTATCTCTGCGTGTGGAGGCGCCGGCAGG ACGAAGCCG	T T	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02300.hp1 HG01433.hp2 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0012 a0001c0001t0006g0013 a0001c0001t0006g0012 a0001c0001t0006g0013	2	62	0.0323	-108	c.56- others(15): Show c.56-1881_56-1774del		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23						chr13	TogoVar
RASA3_chr13_113972783_114137623	114075744	GGTGTGGA others(101): Show GGTGTGGAGGCGCCGGCAGGACGAAGCCTCCCGTGTCCGCGCCGCGTATC TCTGCGTGTGGAGGCGCCGGCAGGACGAAGCCTCCCGTGTCGGCGCCGCG TATCTCTAC	G G	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	33	0.0303	-108	c.56- others(15): Show c.56-2015_56-1908del		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23						chr13	TogoVar
RASA3_chr13_113972783_114137623	114084364	CCGGGGAA others(101): Show CCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGA AATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCG GGGAAATCA	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0061 a0001c0002t0002g0061	1	48	0.0208	-108	c.56- others(17): Show c.56-10635_56-10528del		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23						chr13	TogoVar
RASA3_chr13_113972783_114137623	114086237	GTCCTCGC others(101): Show GTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCC CTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGA CTCCCTTCC	G G	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02148.hp2 HG01993.hp1 HG02148.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0003 a0001c0002t0002 a0001c0003t0003	a0001c0002t0002g0031 a0001c0003t0003g0022 a0001c0002t0002g0031 a0001c0003t0003g0022	2	60	0.0333	-108	c.56- others(17): Show c.56-12508_56-12401del		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23						chr13	TogoVar
RASA3_chr13_113972783_114137623	114086686	CCGGGGAA others(101): Show CCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGA AATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCG GGGAAATCA	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0008 a0001c0001t0005g0008	1	61	0.0164	-108	c.56- others(17): Show c.56-12957_56-12850del		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23						chr13	TogoVar
RASA3_chr13_113972783_114137623	114086777	CTCCTCGC others(101): Show CTCCTCGCGGGGAAATCACGGGGAAGTGCTGAGTCTGGAGTATCGACTCC CTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGA CTCCCTTCG	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03130.hp2 HG02723.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0047 a0001c0001t0001g0010 a0001c0001t0001g0047	2	50	0.0400	-108	c.56- others(17): Show c.56-13048_56-12941del		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23						chr13	TogoVar
RASA3_chr13_113972783_114137623	114086939	CTCCTCGC others(101): Show CTCCTCGCGGGGAAATCACGGGGAAGTGCTGAGTCTGGAGTATCGACTCC CTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGA CTCCCTTCG	C C	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	61	0.0164	-108	c.56- others(17): Show c.56-13210_56-13103del		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23						chr13	TogoVar
RBFOX1_chr16_6014024_7718340	7008884	CCCTTCCT others(101): Show CCCTTCCTCCCTCCCTCCCTCCCTCACTTCCTCCCTCCCTTCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCT CCCTCCCTT	C C	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	61	0.0164	-108	c.-15 others(19): Show c.-15-43169_-15-43062del		RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7229816	AAGGAAGG others(101): Show AAGGAAGGGAGAGAGAGGGAGGAAGGGAGAGAGAGGGAGGAAGGGAGAGA GAGGAAGGAAGGGAGAGAGAGGGAGGAAGGGAGAGAGAGGGAGGAAGGGA GAGAGAGGG	A A	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0035 a0001c0001t0011g0035	1	37	0.0270	-108	c.27+ others(19): Show c.27+177772_27+177879del		RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15					INFO_REALIGN_3_PRIME	chr16	TogoVar
RIGI_chr9_32450302_32531196	32504718	TATAAAAT others(101): Show TATAAAATATATAAAATATATTTAATACATAAAATATATAAAATATATTT AATACATAAAATATATAAAATATATTTAATACATAAAATATATAAAATAT ATTTAATAC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00621.hp2 others(12): Show HG00408.hp2 HG00423.hp2 HG00621.hp2 NA18944.hp2 NA18945.hp2 NA18954.hp2 NA18960.hp1 NA18974.hp1 NA18981.hp2 NA19005.hp2 NA19054.hp2 NA19056.hp2 NA19063.hp2 NA19066.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0022 a0001c0001t0001 a0001c0001t0022	a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0022 others(12): Show a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0022g0049	15	200	0.0750	-108	c.107 others(17): Show c.107-3887_107-3780del		RIGI	ENSG00000107201.11	transcript	ENST00000379883.3	protein_coding	1/17						chr9	TogoVar
RIMBP2_chr12_130391133_130721299	130646041	CCCTCTCC others(101): Show CCCTCTCCACCTCCCTCACCACCTGCCTCTCCACCTCCCTCACCACTTCC CTCTCCACCTCCCTCTCCACCTCCCTCACCACCTGCCTCTCCACCTCCCT CACCACCTG	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01255.hp2 HG01515.hp2 others(3): Show HG00642.hp1 HG01255.hp2 HG01515.hp2 HG01516.hp2 HG01978.hp1 HG01981.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(2): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008	a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 others(2): Show a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0008t0001	a0001c0002t0001g0107 a0001c0002t0001g0110 a0001c0003t0001g0148 others(3): Show a0001c0002t0001g0107 a0001c0002t0001g0110 a0001c0003t0001g0148 a0001c0004t0001g0020 a0001c0005t0001g0111 a0001c0008t0001g0140	6	175	0.0343	-108	c.-35 others(21): Show c.-351-17693_-351-17586del		RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22						chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130646101	CCCTCTCC others(101): Show CCCTCTCCACCTCCCTCACCACCTGCCTCTCCACCTCCCTCACCACCTGC CTCTCCACCTCCCTCACCACCTGCCTCTCCACCTCCCTCACCACTTCCCT CTCCACCTC	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0001 a0001c0028t0001	a0001c0028t0001g0114 a0001c0028t0001g0114	1	146	0.0068	-108	c.-35 others(21): Show c.-351-17753_-351-17646del		RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22						chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130646221	CCCTCACC others(101): Show CCCTCACCACCTGCCTCTCCACCTCCCTCACCACTTCCCTCTCCACCTGC CTCACCACCTCCCTCACCACCTGCCTCTCCACCTCCCTCACCACTTCCCT CTCCACCTG	C C	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	174	0.0057	-108	c.-35 others(21): Show c.-351-17873_-351-17766del		RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22						chr12	TogoVar
RNF157_chr17_76137474_76245493	76182760	CATATATA others(101): Show CATATATATATATATATATATATATATATGAGAGATATATATATGAGAGA GATATATATCCTATATATCCTATATATGATATATAGGATATATAGGATAT ATATATCCT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0203 a0001c0001t0002g0203	1	95	0.0105	-108	c.208 others(17): Show c.208-9078_208-8971del		RNF157	ENSG00000141576.16	transcript	ENST00000269391.11	protein_coding	2/18						chr17	TogoVar
RNF175_chr4_153705160_153765024	153724935	ACGTGGGG others(101): Show ACGTGGGGGAGTGGGCAGGGGTGAGCTACGTGGGGGAGCGGGCAGGGGTG AGCTGTGTGGGGGAGCGGGCAGGGGTGAGCTGCGTGGGGGAGCGGGCAGG GGTAGGCTG	A A	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0142 a0002c0002t0001g0142	1	392	0.0026	-108	c.402 others(17): Show c.402-1585_402-1478del		RNF175	ENSG00000145428.15	transcript	ENST00000347063.9	protein_coding	4/8						chr4	TogoVar
RNF213_chr17_80255852_80403794	80314157	GTGTAGGT others(101): Show GTGTAGGTGATGGTGGAGGTGATGGTGGTGGTGAAGGTGATGGTGGAGGT AATGGAGGTGATGGTGGTGGTGAAGGTGATGGTGGAGGTACTGGAGGTGA TGGTGGTAA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01993.hp2 HG02683.hp2 others(4): Show HG01891.hp2 HG01993.hp2 HG02683.hp2 HG02897.hp2 HG03209.hp2 HG03486.hp2 NA18906.hp2	a0005 a0018 a0048 others(1): Show a0005 a0018 a0048 a0079	a0005c0007 a0018c0019 a0048c0136 others(1): Show a0005c0007 a0018c0019 a0048c0136 a0079c0133	a0005c0007t0002 a0018c0019t0014 a0048c0136t0014 others(1): Show a0005c0007t0002 a0018c0019t0014 a0048c0136t0014 a0079c0133t0062	a0005c0007t0002g0200 a0005c0007t0002g0205 a0018c0019t0014g0017 others(4): Show a0005c0007t0002g0200 a0005c0007t0002g0205 a0018c0019t0014g0017 a0018c0019t0014g0034 a0018c0019t0014g0278 a0048c0136t0014g0011 a0079c0133t0062g0008	7	277	0.0253	-108	c.281 others(18): Show c.2811+991_2811+1098del		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67						chr17	TogoVar
RNF32_chr7_156635774_156682130	156638104	TTTTTGTC others(101): Show TTTTTGTCAAGAATTAGAAAGCAATAAGGTTAAATTTTCAGTCAAGCCTA TACTTAACACAAATCGATTGCACATTTCAAAATAGCTAGAATAATTTGAA TGTTCCTAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02280.hp2 HG01884.hp2 HG02280.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0266 a0004c0005t0002g0267 a0004c0005t0002g0266 a0004c0005t0002g0267	2	446	0.0045	-108	c.-27 others(11): Show c.-2784_-2677del		RNF32	ENSG00000105982.17	transcript	ENST00000317955.10	protein_coding					2669		chr7	TogoVar
RPH3AL_chr17_207389_357807	287713	CCTCTCTC others(101): Show CCTCTCTCTCCACCGACAGACCTCGCACCCTCTCTCTCCACCGACAGACC TCGCACTCTCTCTCCACCGACAGACCTCGCACGCTCTCTCTCCACCGTCA GACCTCACA	C C	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0072 a0001c0001t0006g0072	1	126	0.0079	-108	c.352 others(17): Show c.352-5967_352-5860del		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9						chr17	TogoVar
RPH3AL_chr17_207389_357807	287979	CCTCTCTC others(101): Show CCTCTCTCTCCACCGTCAGACCTCACACCCTCTCTCCACCGTCAGACCTC ACTCCCTCTCTCCACCGTCAGACCTCACTCCGTCTCTCCACCGTCAGACC TCGCACCCT	C C	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	130	0.0077	-108	c.352 others(17): Show c.352-6233_352-6126del		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9						chr17	TogoVar
RPH3AL_chr17_207389_357807	288677	TCTCTCTC others(101): Show TCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGACCTC GCACCCTCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGA CCTCGCACC	T T	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0096 a0001c0001t0003g0096	1	111	0.0090	-108	c.352 others(17): Show c.352-6931_352-6824del		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9						chr17	TogoVar
RPH3AL_chr17_207389_357807	294549	TCAGTGTG others(101): Show TCAGTGTGGGAGGGACAGAGGAGCTGCAGAAATGGATGGACAGAGGGAAT GCACATCAGTGTGGGAGGGACACAGATGCTGCAGAAATGGACAGCAGAGG GAATGCACA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(49): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG01070.hp1 HG01192.hp1 HG01255.hp2 HG01258.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01884.hp2 HG01943.hp1 HG01943.hp2 HG02027.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02698.hp2 HG02723.hp1 HG02738.hp2 HG02886.hp2 HG02895.hp2 HG02976.hp1 HG03017.hp2 HG03540.hp2 HG03831.hp1 HG03831.hp2 NA18522.hp2 NA18906.hp2 NA18947.hp1 NA18963.hp1 NA18983.hp2 NA18993.hp1 NA18999.hp1 NA18999.hp2 NA19004.hp2 NA19005.hp1 NA19056.hp1 NA19056.hp2 NA19079.hp2 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0002c0011 a0003c0005 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0032 a0001c0002t0001 a0001c0002t0003 a0001c0002t0007 a0001c0003t0030 a0002c0011t0001 a0003c0005t0005 a0003c0005t0023 a0005c0009t0001	a0001c0001t0001g0030 a0001c0001t0001g0040 a0001c0001t0001g0045 others(49): Show a0001c0001t0001g0030 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0065 a0001c0001t0001g0085 a0001c0001t0001g0091 a0001c0001t0001g0104 a0001c0001t0001g0114 a0001c0001t0001g0119 a0001c0001t0001g0124 a0001c0001t0002g0010 a0001c0001t0002g0031 a0001c0001t0002g0061 a0001c0001t0002g0069 a0001c0001t0002g0078 a0001c0001t0004g0008 a0001c0001t0004g0021 a0001c0001t0004g0092 a0001c0001t0004g0097 a0001c0001t0004g0121 a0001c0001t0005g0017 a0001c0001t0005g0132 a0001c0001t0006g0095 a0001c0001t0007g0032 a0001c0001t0008g0130 a0001c0001t0011g0007 a0001c0001t0012g0005 a0001c0001t0013g0055 a0001c0001t0013g0107 a0001c0001t0013g0108 a0001c0001t0014g0023 a0001c0001t0015g0041 a0001c0001t0016g0093 a0001c0001t0017g0070 a0001c0001t0017g0099 a0001c0001t0019g0011 a0001c0001t0019g0012 a0001c0001t0024g0082 a0001c0001t0025g0076 a0001c0001t0027g0118 a0001c0001t0032g0004 a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0073 a0001c0002t0003g0090 a0001c0002t0007g0112 a0001c0003t0030g0122 a0002c0011t0001g0016 a0003c0005t0005g0035 a0003c0005t0023g0125 a0005c0009t0001g0054	52	132	0.3939	-108	c.352 others(19): Show c.352-12803_352-12696del		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9						chr17	TogoVar
RPTN_chr1_152148595_152164228	152155956	CTGACCAT others(101): Show CTGACCATAGTGGGAACTCTGACCTTGTCTGTTTGGTTGACTGTAGTGGG AACCCTGGCCTTGTCTGTTTGTCTGATCATAATGATAACACTGGCCTTTT CTGTCCATT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG06807.hp1 HG06807.hp1	a0015 a0015	a0015c0022 a0015c0022	a0015c0022t0001 a0015c0022t0001	a0015c0022t0001g0050 a0015c0022t0001g0050	1	420	0.0024	-108	c.103 others(9): Show c.1035_1142del	p.Met others(13): Show p.Met346_Gln381del	RPTN	ENSG00000215853.3	transcript	ENST00000316073.3	protein_coding	3/3	1207/3569	1035/2355	345/784			chr1	TogoVar
RPTOR_chr17_80539838_80971368	80743773	TTACTAGC others(101): Show TTACTAGCAGAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCAGAGCC CTGGCTACTAGCACAGCCCTGGTTACTAGCAGAGCCCTGGCTACTAGCAC AGCCCTGGC	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0087 a0001c0006t0087	a0001c0006t0087g0013 a0001c0006t0087g0013	1	191	0.0052	-108	c.655 others(19): Show c.655-10228_655-10121del		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744217	TCCTGGCT others(101): Show TCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGCTACTAGC ACAGCCCTGGTTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTAC TAGCACAGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0041 a0001c0041	a0001c0041t0004 a0001c0041t0004	a0001c0041t0004g0175 a0001c0041t0004g0175	1	163	0.0061	-108	c.655 others(17): Show c.655-9769_655-9662del		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar

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