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
SRL_chr16_4184374_4247080	4238718	GTTCATGT others(3): Show GTTCATGTGAT	G G	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0314 a0001c0001t0001g0314	1	358	0.0028	-10	c.61+ others(25): Show c.61+3279_61+3288delATCACATGAA	SRL	ENSG00000185739.13	transcript	ENST00000399609.7	protein_coding	1/5			chr16	TogoVar
SRP19_chr5_112856287_112874788	112871243	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG01070.hp2 HG01071.hp1 others(1): Show HG00323.hp2 HG01070.hp2 HG01071.hp1 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0012 a0001c0001t0013g0012	4	408	0.0098	-10	c.37 others(21): Show c.3707_*3716delTTTTTTTTTT	SRP19	ENSG00000153037.15	transcript	ENST00000505459.6	protein_coding		1456		chr5	TogoVar
SRP54_chr14_34977992_35034567	34981184	TACACACA others(3): Show TACACACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG04204.hp2 HG03927.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0091 a0001c0001t0004g0072 a0001c0001t0001g0091 a0001c0001t0004g0072	2	396	0.0051	-10	c.-20 others(21): Show c.-2064_-2055delACACACACAC	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding		1807		chr14	TogoVar
SRP54_chr14_34977992_35034567	34981843	TTTTTCCC others(3): Show TTTTTCCCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0020 a0001c0001t0001g0021	2	396	0.0051	-10	c.-14 others(21): Show c.-1405_-1396delTTTTCCCCTC	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding		1148		chr14	TogoVar
SRP54_chr14_34977992_35034567	34995134	GGTGTGTG others(3): Show GGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp1 HG01070.hp2 others(12): Show HG00140.hp2 HG00642.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01168.hp2 HG01257.hp2 HG01258.hp1 HG01515.hp1 HG02109.hp2 HG03490.hp2 HG03492.hp1 HG04199.hp1 HG06807.hp1 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0002t0003	a0001c0001t0002g0378 a0001c0001t0003g0177 a0001c0001t0003g0193 others(12): Show a0001c0001t0002g0378 a0001c0001t0003g0177 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0199 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0250 a0001c0001t0006g0251 a0001c0002t0003g0187 a0001c0002t0003g0197 a0001c0002t0003g0198	15	396	0.0379	-10	c.-33 others(27): Show c.-33-1498_-33-1489delGTGTGTGTGT	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP54_chr14_34977992_35034567	34999004	TGTGTGTG others(3): Show TGTGTGTGTGG	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00733.hp1 HG01168.hp1 others(5): Show HG00609.hp2 HG00733.hp1 HG01168.hp1 HG01169.hp1 HG01516.hp2 HG01517.hp2 HG03453.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0288 a0001c0001t0002g0330 others(4): Show a0001c0001t0002g0005 a0001c0001t0002g0288 a0001c0001t0002g0330 a0001c0001t0002g0365 a0001c0001t0002g0367 a0001c0001t0002g0373 a0001c0001t0002g0390	8	396	0.0202	-10	c.79- others(23): Show c.79-553_79-544delGTGTGTGTGG	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	2/15			chr14	TogoVar
SRP54_chr14_34977992_35034567	35003563	GTTTTTTT others(3): Show GTTTTTTTGGT	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0270 a0001c0001t0002g0270	1	396	0.0025	-10	c.255 others(27): Show c.255+2551_255+2560delGGTTTTTTTT	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP54_chr14_34977992_35034567	35023787	AACACACA others(3): Show AACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0376 a0001c0001t0002g0376	1	396	0.0025	-10	c.132 others(27): Show c.1327+734_1327+743delACACACACAC	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP68_chr17_76033785_76077517	76062729	TTATATAT others(3): Show TTATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00733.hp2 HG00738.hp1 others(24): Show HG00423.hp2 HG00733.hp2 HG00738.hp1 HG01243.hp1 HG01891.hp1 HG02056.hp1 HG02083.hp2 HG02109.hp2 HG02647.hp2 HG02735.hp2 HG02922.hp2 HG02965.hp1 HG03041.hp1 HG03139.hp1 HG03139.hp2 HG03516.hp2 HG03688.hp2 NA18522.hp2 NA18906.hp1 NA18941.hp1 NA18946.hp1 NA18998.hp2 NA19004.hp1 NA19058.hp1 NA19089.hp1 NA19240.hp2 NA21309.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0012 others(1): Show a0001c0001 a0001c0002 a0001c0012 a0006c0014	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0012t0002 a0006c0014t0002	a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0160 others(22): Show a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0002g0009 a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0125 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0179 a0001c0001t0002g0183 a0001c0002t0001g0010 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0270 a0001c0002t0001g0334 a0001c0012t0002g0022 a0006c0014t0002g0026	27	365	0.0740	-10	c.562 others(27): Show c.562-1165_562-1156delTATATATATA	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15			chr17	TogoVar
SRP68_chr17_76033785_76077517	76070850	GCACACAC others(3): Show GCACACACACA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	365	0.0027	-10	c.185 others(25): Show c.185-416_185-407delTGTGTGTGTG	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	1/15			chr17	TogoVar
SRP68_chr17_76033785_76077517	76077366	TGTCCTGG others(3): Show TGTCCTGGCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01243.hp2 HG01361.hp2 others(7): Show HG01074.hp2 HG01243.hp2 HG01361.hp2 HG02145.hp1 HG03098.hp2 HG03239.hp1 HG03471.hp1 HG04115.hp1 NA18522.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 others(7): Show a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0335 a0001c0001t0010g0194	10	365	0.0274	-10	c.-48 others(21): Show c.-4885_-4876delGGGCCAGGAC	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding		4850		chr17	TogoVar
SRP72_chr4_56462617_56508681	56466480	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0168 a0001c0001t0021g0168	1	388	0.0026	-10	c.-11 others(21): Show c.-1155_-1146delAAAAAAAAAA	SRP72	ENSG00000174780.17	transcript	ENST00000642900.1	protein_coding		1136		chr4	TogoVar
SRP72_chr4_56462617_56508681	56475469	CAGGGCCT others(3): Show CAGGGCCTAGG	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0228 a0001c0001t0025g0228	1	388	0.0026	-10	c.610 others(27): Show c.610+1092_610+1101delGCCTAGGAGG	SRP72	ENSG00000174780.17	transcript	ENST00000642900.1	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
SRP72_chr4_56462617_56508681	56506786	TTGTGTGT others(3): Show TTGTGTGTGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02486.hp1 HG01884.hp1 HG02486.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0019 a0002c0008t0026 a0002c0008t0019 a0002c0008t0026	a0002c0008t0019g0056 a0002c0008t0026g0057 a0002c0008t0019g0056 a0002c0008t0026g0057	2	388	0.0052	-10	c.49 others(21): Show c.4926_*4935delTGTGTGTGTG	SRP72	ENSG00000174780.17	transcript	ENST00000642900.1	protein_coding		3106		chr4	TogoVar
SRP9_chr1_225772826_225795464	225775856	AACACACA others(3): Show AACACACACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0090 a0001c0001t0013g0090	1	474	0.0021	-10	c.-20 others(21): Show c.-2084_-2075delACACACACAC	SRP9	ENSG00000143742.14	transcript	ENST00000304786.12	protein_coding		1969		chr1	TogoVar
SRP9_chr1_225772826_225795464	225780178	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00423.hp1 others(108): Show HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00673.hp1 HG00738.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01192.hp1 HG01346.hp2 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02523.hp2 HG02572.hp2 HG02683.hp1 HG02735.hp1 HG02738.hp1 HG02895.hp2 HG02897.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03195.hp2 HG03225.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG04115.hp1 HG04184.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18939.hp2 NA18947.hp2 NA18951.hp1 NA18957.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18972.hp2 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18981.hp1 NA18989.hp1 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19006.hp2 NA19007.hp2 NA19011.hp1 NA19012.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp2 NA19062.hp1 NA19063.hp2 NA19065.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp2 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19081.hp2 NA19082.hp2 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA19090.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012	a0001c0001t0001g0153 a0001c0001t0001g0221 a0001c0001t0002g0001 others(44): Show a0001c0001t0001g0153 a0001c0001t0001g0221 a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0009 a0001c0001t0002g0020 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0061 a0001c0001t0002g0067 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0006g0001 a0001c0001t0006g0009 a0001c0001t0006g0047 a0001c0001t0006g0148 a0001c0001t0009g0127 a0001c0001t0011g0154 a0001c0001t0012g0134	111	474	0.2342	-10	c.72+ others(25): Show c.72+2183_72+2192delTTTTTTTTTT	SRP9	ENSG00000143742.14	transcript	ENST00000304786.12	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRP9_chr1_225772826_225795464	225781265	GTTTTGGT others(3): Show GTTTTGGTTAT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00423.hp1 others(115): Show HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00621.hp1 HG00673.hp1 HG00738.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01192.hp1 HG01346.hp2 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02145.hp2 HG02257.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02523.hp2 HG02572.hp2 HG02615.hp1 HG02630.hp2 HG02683.hp1 HG02735.hp1 HG02738.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03195.hp2 HG03225.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG04115.hp1 HG04184.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18939.hp2 NA18947.hp2 NA18951.hp1 NA18957.hp2 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp2 NA18967.hp1 NA18972.hp2 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18981.hp1 NA18989.hp1 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19006.hp2 NA19007.hp2 NA19011.hp1 NA19012.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp2 NA19062.hp1 NA19063.hp2 NA19065.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp2 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19081.hp2 NA19082.hp2 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA19090.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012	a0001c0001t0001g0068 a0001c0001t0001g0157 a0001c0001t0001g0158 others(51): Show a0001c0001t0001g0068 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0167 a0001c0001t0001g0221 a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0009 a0001c0001t0002g0020 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0061 a0001c0001t0002g0067 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0191 a0001c0001t0006g0001 a0001c0001t0006g0009 a0001c0001t0006g0047 a0001c0001t0006g0148 a0001c0001t0009g0127 a0001c0001t0011g0154 a0001c0001t0012g0134	118	474	0.2490	-10	c.73- others(25): Show c.73-2027_73-2018delTATTTTTGGT	SRP9	ENSG00000143742.14	transcript	ENST00000304786.12	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRP9_chr1_225772826_225795464	225781395	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01978.hp1 HG01978.hp2 others(9): Show HG01081.hp1 HG01978.hp1 HG01978.hp2 HG02602.hp2 HG03490.hp2 HG03492.hp2 NA18945.hp2 NA18975.hp1 NA18991.hp2 NA19081.hp1 NA19086.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0049 a0001c0001t0004g0030 a0001c0001t0004g0049 others(6): Show a0001c0001t0001g0049 a0001c0001t0004g0030 a0001c0001t0004g0049 a0001c0001t0004g0050 a0001c0001t0004g0117 a0001c0001t0004g0118 a0001c0001t0004g0155 a0001c0001t0004g0156 a0001c0001t0004g0229	12	474	0.0253	-10	c.73- others(25): Show c.73-1893_73-1884delTTTTTTTTTT	SRP9	ENSG00000143742.14	transcript	ENST00000304786.12	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRP9_chr1_225772826_225795464	225784229	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01884.hp2 others(15): Show HG01168.hp1 HG01169.hp1 HG01884.hp2 HG02280.hp1 HG02451.hp1 HG02735.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03225.hp1 HG03516.hp1 HG03654.hp2 NA18522.hp2 NA18906.hp1 NA19011.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012	a0001c0001t0002g0004 a0001c0001t0002g0046 a0001c0001t0002g0125 others(6): Show a0001c0001t0002g0004 a0001c0001t0002g0046 a0001c0001t0002g0125 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0135 a0001c0001t0003g0078 a0001c0001t0012g0134	18	474	0.0380	-10	c.141 others(25): Show c.141+887_141+896delTTTTTTTTTT	SRP9	ENSG00000143742.14	transcript	ENST00000304786.12	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRPK1_chr6_35827966_35926098	35885298	CAGAGAGA others(3): Show CAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0333 a0001c0002t0002g0333	1	342	0.0029	-10	c.478 others(27): Show c.478+1416_478+1425delCTCTCTCTCT	SRPK1	ENSG00000096063.16	transcript	ENST00000373825.7	protein_coding	6/15			chr6	TogoVar
SRPK1_chr6_35827966_35926098	35895309	TAAACACT others(3): Show TAAACACTGTA	T T	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG04228.hp2 HG03239.hp1 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0269 a0001c0002t0002g0275 a0001c0002t0002g0269 a0001c0002t0002g0275	2	342	0.0059	-10	c.75- others(25): Show c.75-4306_75-4297delTACAGTGTTT	SRPK1	ENSG00000096063.16	transcript	ENST00000373825.7	protein_coding	2/15			chr6	TogoVar
SRPK1_chr6_35827966_35926098	35915997	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02280.hp2 HG02615.hp2 others(1): Show HG01891.hp2 HG02280.hp2 HG02615.hp2 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0001g0053 others(1): Show a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0004g0012	4	342	0.0117	-10	c.74+ others(25): Show c.74+4461_74+4470delGTGTGTGTGT	SRPK1	ENSG00000096063.16	transcript	ENST00000373825.7	protein_coding	2/15			chr6	TogoVar
SRPK2_chr7_105111374_105393921	105170957	AAGAAAGA others(3): Show AAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	282	0.0036	-10	c.230 others(27): Show c.230-1702_230-1693delCTTTCTTTCT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	3/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105176589	ATGTGTGT others(3): Show ATGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	282	0.0036	-10	c.230 others(27): Show c.230-7334_230-7325delCACACACACA	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	3/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105205513	TCTCTCAC others(3): Show TCTCTCACACA	T T	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02083.hp1 HG02273.hp1 others(2): Show HG02071.hp2 HG02083.hp1 HG02273.hp1 HG03540.hp1 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0090 a0001c0001t0001g0110 others(2): Show a0001c0001t0001g0077 a0001c0001t0001g0090 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0223	5	282	0.0177	-10	c.72- others(25): Show c.72-1738_72-1729delTGTGTGAGAG	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105205515	TCTCACAC others(3): Show TCTCACACACA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01109.hp2 HG02056.hp2 others(13): Show HG00642.hp1 HG01109.hp2 HG02056.hp2 HG02109.hp1 HG02486.hp2 HG02886.hp1 HG02922.hp2 HG03098.hp2 HG03195.hp2 HG03516.hp1 HG03654.hp2 HG03710.hp2 HG03942.hp2 HG04115.hp2 NA18906.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0225 a0001c0001t0001g0230 others(13): Show a0001c0001t0001g0065 a0001c0001t0001g0225 a0001c0001t0001g0230 a0001c0001t0001g0237 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0254 a0001c0001t0001g0265 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278	16	282	0.0567	-10	c.72- others(25): Show c.72-1740_72-1731delTGTGTGTGAG	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105205517	TCACACAC others(3): Show TCACACACACA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG00621.hp1 others(31): Show HG00438.hp1 HG00558.hp1 HG00621.hp1 HG00733.hp1 HG01433.hp1 HG01496.hp1 HG02056.hp1 HG02080.hp2 HG02132.hp2 HG02155.hp2 HG02165.hp1 HG02293.hp1 HG02683.hp1 HG02818.hp2 HG03579.hp1 HG03834.hp2 HG04184.hp2 HG04204.hp1 NA18747.hp1 NA18942.hp1 NA18949.hp1 NA18955.hp2 NA18959.hp1 NA18960.hp1 NA18969.hp2 NA18971.hp2 NA18979.hp2 NA18984.hp2 NA18985.hp2 NA19002.hp1 NA19003.hp2 NA19011.hp1 NA19057.hp1 NA19079.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0004c0005t0001	a0001c0001t0001g0031 a0001c0001t0001g0055 a0001c0001t0001g0056 others(31): Show a0001c0001t0001g0031 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0158 a0001c0001t0001g0218 a0001c0001t0001g0256 a0001c0001t0001g0280 a0001c0001t0002g0228 a0001c0001t0002g0277 a0001c0001t0004g0044 a0001c0001t0004g0053 a0001c0001t0004g0076 a0001c0001t0004g0107 a0004c0005t0001g0269	34	282	0.1206	-10	c.72- others(25): Show c.72-1742_72-1733delTGTGTGTGTG	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105232458	TAAAAAAA others(3): Show TAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(188): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp2 HG00438.hp2 HG00558.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18949.hp2 NA18954.hp1 NA18956.hp2 NA18959.hp2 NA18960.hp2 NA18965.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18981.hp1 NA18984.hp1 NA18985.hp1 NA18989.hp1 NA18991.hp1 NA18999.hp2 NA19002.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19058.hp1 NA19074.hp1 NA19078.hp2 NA19079.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0006 a0004c0005 a0001c0001 a0003c0006 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0003c0006t0001 a0004c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(188): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0065 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 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 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0002g0163 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0250 a0001c0001t0002g0253 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0272 a0001c0001t0002g0277 a0001c0001t0003g0151 a0001c0001t0006g0165 a0001c0001t0006g0173 a0001c0001t0007g0007 a0001c0001t0009g0154 a0001c0001t0011g0273 a0003c0006t0001g0144 a0004c0005t0001g0269	191	282	0.6773	-10	c.72- others(27): Show c.72-28683_72-28674delTTTTTTTTTT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105245034	AACACACA others(3): Show AACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	282	0.0036	-10	c.72- others(27): Show c.72-41259_72-41250delGTGTGTGTGT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105245186	GAGACAGT others(3): Show GAGACAGTTAA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02622.hp2 HG02723.hp1 others(2): Show HG02486.hp1 HG02622.hp2 HG02723.hp1 HG03130.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 others(2): Show a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0210	5	282	0.0177	-10	c.72- others(27): Show c.72-41411_72-41402delTTAACTGTCT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105280947	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00733.hp2 HG01069.hp1 others(41): Show HG00280.hp1 HG00733.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01256.hp2 HG01257.hp2 HG01346.hp2 HG01358.hp1 HG01496.hp2 HG01884.hp2 HG01975.hp2 HG01993.hp2 HG02055.hp2 HG02071.hp1 HG02109.hp1 HG02132.hp2 HG02165.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02615.hp2 HG02647.hp2 HG02683.hp1 HG02809.hp1 HG02922.hp2 HG03041.hp2 HG03098.hp1 HG03516.hp1 HG03579.hp1 HG03834.hp2 HG04204.hp1 NA18522.hp2 NA18612.hp1 NA18975.hp1 NA18981.hp1 NA18991.hp2 NA19011.hp2 NA19240.hp1 NA20805.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0004c0005t0001	a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0021 others(41): Show a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0091 a0001c0001t0001g0218 a0001c0001t0001g0232 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0271 a0001c0001t0001g0276 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0002g0228 a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0001t0002g0240 a0001c0001t0002g0250 a0001c0001t0002g0253 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0272 a0001c0001t0002g0277 a0001c0001t0005g0114 a0001c0001t0011g0273 a0004c0005t0001g0269	44	282	0.1560	-10	c.72- others(27): Show c.72-77172_72-77163delTTTTTTTTTT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105290765	GCGGTGGC others(3): Show GCGGTGGCTCA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03041.hp1 HG02451.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0123 a0001c0001t0001g0124	2	282	0.0071	-10	c.72- others(27): Show c.72-86990_72-86981delTGAGCCACCG	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105294512	TTTTTGTT others(3): Show TTTTTGTTTTG	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03098.hp1 HG03209.hp1 others(1): Show HG02886.hp1 HG03098.hp1 HG03209.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0026 a0001c0001t0001g0241 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0026 a0001c0001t0001g0241 a0001c0001t0001g0242	4	282	0.0142	-10	c.72- others(27): Show c.72-90737_72-90728delCAAAACAAAA	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105323967	TTGTGTGT others(3): Show TTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02683.hp2 HG02965.hp2 others(7): Show HG02615.hp1 HG02683.hp2 HG02965.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03516.hp2 HG03540.hp1 NA18999.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0026 a0001c0001t0001g0119 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224	10	282	0.0355	-10	c.71+ others(27): Show c.71+64671_71+64680delCACACACACA	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105331308	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	282	0.0036	-10	c.71+ others(27): Show c.71+57330_71+57339delTTTTTTTTTT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105331328	AAAAAAAA others(3): Show AAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	282	0.0036	-10	c.71+ others(27): Show c.71+57310_71+57319delGTTTTTTTTT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105385171	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01346.hp1 HG02486.hp1 others(1): Show HG00738.hp2 HG01346.hp1 HG02486.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0202 a0001c0001t0001g0203 others(1): Show a0001c0001t0001g0196 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204	4	282	0.0142	-10	c.71+ others(25): Show c.71+3467_71+3476delAAAAAAAAAA	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
SRPK3_chrX_153776041_153790730	153781833	GAGGCACC others(3): Show GAGGCACCTCC	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19077.hp2 NA19077.hp2	a0014 a0014	a0014c0028 a0014c0028	a0014c0028t0006 a0014c0028t0006	a0014c0028t0006g0020 a0014c0028t0006g0020	1	307	0.0033	-10	c.387 others(22): Show c.387+4_387+13delAGGCACCTCC	SRPK3	ENSG00000184343.11	transcript	ENST00000370101.8	protein_coding	4/14			chrX	TogoVar
SRPRB_chr3_133800815_133826492	133818785	AGTGTGTG others(3): Show AGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	446	0.0022	-10	c.603 others(25): Show c.603-739_603-730delGTGTGTGTGT	SRPRB	ENSG00000144867.13	transcript	ENST00000678299.1	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
SRPX2_chrX_100639199_100680788	100642244	TCTCTCTC others(3): Show TCTCTCTCACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0185 a0001c0001t0002g0185	1	318	0.0031	-10	c.-24 others(21): Show c.-2401_-2392delCTCTCTCACA	SRPX2	ENSG00000102359.9	transcript	ENST00000373004.5	protein_coding		1954		chrX	TogoVar
SRRD_chr22_26478877_26499658	26495626	GTGTATAT others(3): Show GTGTATATACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	448	0.0022	-10	c.39 others(21): Show c.3955_*3964delTGTATATACA	SRRD	ENSG00000100104.13	transcript	ENST00000215917.11	protein_coding		969		chr22	TogoVar
SRRM2_chr16_2747638_2776412	2755569	GGAAGGAA others(3): Show GGAAGGAAATT	G G	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG01516.hp1 HG01517.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0031 a0002c0001t0001g0031	2	402	0.0050	-10	c.-31 others(25): Show c.-31-757_-31-748delATTGAAGGAA	SRRM2	ENSG00000167978.19	transcript	ENST00000301740.13	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SRRM3_chr7_76196896_76292287	76223820	GCCTTCCC others(3): Show GCCTTCCCTTC	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00642.hp1 HG00673.hp2 others(55): Show HG00408.hp2 HG00642.hp1 HG00673.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01175.hp1 HG01192.hp2 HG01346.hp2 HG02055.hp1 HG02080.hp1 HG02155.hp2 HG02257.hp1 HG02273.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02895.hp1 HG02897.hp2 HG03195.hp2 HG03209.hp2 HG03239.hp2 HG03471.hp1 HG03486.hp2 HG03492.hp2 HG03834.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18612.hp2 NA18747.hp1 NA18945.hp1 NA18952.hp1 NA18954.hp1 NA18955.hp1 NA18966.hp2 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18983.hp1 NA18990.hp1 NA19012.hp2 NA19030.hp2 NA19056.hp1 NA19056.hp2 NA19068.hp2 NA19085.hp1 NA19085.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0011 a0001c0014 others(3): Show a0001c0001 a0001c0011 a0001c0014 a0002c0002 a0002c0006 a0002c0017	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0013 a0001c0011t0001 a0001c0011t0011 a0001c0014t0001 a0002c0002t0001 a0002c0002t0003 a0002c0006t0001 a0002c0017t0003	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0030 others(55): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0030 a0001c0001t0001g0040 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0076 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0003g0177 a0001c0001t0003g0185 a0001c0001t0010g0158 a0001c0001t0013g0171 a0001c0011t0001g0149 a0001c0011t0011g0008 a0001c0014t0001g0285 a0001c0014t0001g0286 a0002c0002t0001g0154 a0002c0002t0001g0266 a0002c0002t0001g0282 a0002c0002t0003g0205 a0002c0006t0001g0281 a0002c0006t0001g0283 a0002c0006t0001g0284 a0002c0017t0003g0324	58	324	0.1790	-10	c.-39 others(29): Show c.-39-11144_-39-11135delTCCCTTCCCT	SRRM3	ENSG00000177679.16	transcript	ENST00000611745.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
SRRM3_chr7_76196896_76292287	76246588	GAGAAAAG others(3): Show GAGAAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03486.hp1 HG02257.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0319 a0001c0001t0001g0320	2	324	0.0062	-10	c.234 others(27): Show c.234-1597_234-1588delAAAAGAAAAG	SRRM3	ENSG00000177679.16	transcript	ENST00000611745.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
SRRM3_chr7_76196896_76292287	76265770	AATATTTA others(3): Show AATATTTATAT	A A	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01346.hp1 HG01928.hp1 others(1): Show HG01257.hp2 HG01346.hp1 HG01928.hp1 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0086 others(1): Show a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0086 a0001c0001t0001g0089	4	324	0.0124	-10	c.830 others(25): Show c.830+315_830+324delATTTATATAT	SRRM3	ENSG00000177679.16	transcript	ENST00000611745.2	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
SRRM4_chr12_118976541_119168051	119071668	CCCCAGAA others(3): Show CCCCAGAACTA	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02895.hp2 HG02630.hp1 HG02895.hp2	a0002 a0002	a0002c0002 a0002c0014 a0002c0002 a0002c0014	a0002c0002t0140 a0002c0014t0076 a0002c0002t0140 a0002c0014t0076	a0002c0002t0140g0230 a0002c0014t0076g0259 a0002c0002t0140g0230 a0002c0014t0076g0259	2	328	0.0061	-10	c.132 others(29): Show c.132-30567_132-30558delCCCAGAACTA	SRRM4	ENSG00000139767.10	transcript	ENST00000267260.5	protein_coding	1/12			chr12	TogoVar
SRRM4_chr12_118976541_119168051	119136470	GTTTGTTT others(3): Show GTTTGTTTTGT	G G	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0130 a0001c0001t0034g0130	1	328	0.0031	-10	c.771 others(27): Show c.771+5654_771+5663delTGTTTTGTTT	SRRM4	ENSG00000139767.10	transcript	ENST00000267260.5	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRRM4_chr12_118976541_119168051	119137587	GGAGAGAG others(3): Show GGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00609.hp1 HG00673.hp2 others(34): Show HG00099.hp2 HG00609.hp1 HG00673.hp2 HG00735.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01243.hp1 HG01346.hp2 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01993.hp2 HG02071.hp2 HG02572.hp2 HG02723.hp2 HG02735.hp1 HG02809.hp2 HG02895.hp2 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03471.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03669.hp2 HG03834.hp2 HG04199.hp1 HG04228.hp1 NA18946.hp2 NA18963.hp2 NA18998.hp2 NA19056.hp2 NA19079.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0007	a0001c0001 a0001c0011 a0001c0019 others(5): Show a0001c0001 a0001c0011 a0001c0019 a0002c0002 a0002c0014 a0004c0004 a0006c0006 a0007c0010	a0001c0001t0006 a0001c0001t0014 a0001c0001t0022 others(26): Show a0001c0001t0006 a0001c0001t0014 a0001c0001t0022 a0001c0001t0023 a0001c0001t0026 a0001c0001t0029 a0001c0001t0033 a0001c0001t0034 a0001c0001t0043 a0001c0001t0049 a0001c0001t0057 a0001c0001t0058 a0001c0001t0061 a0001c0001t0072 a0001c0001t0077 a0001c0001t0087 a0001c0001t0106 a0001c0001t0113 a0001c0001t0121 a0001c0001t0144 a0001c0001t0154 a0001c0011t0068 a0001c0019t0003 a0002c0002t0008 a0002c0014t0076 a0004c0004t0034 a0006c0006t0132 a0007c0010t0089 a0007c0010t0120	a0001c0001t0006g0148 a0001c0001t0006g0158 a0001c0001t0006g0165 others(34): Show a0001c0001t0006g0148 a0001c0001t0006g0158 a0001c0001t0006g0165 a0001c0001t0006g0297 a0001c0001t0014g0058 a0001c0001t0022g0314 a0001c0001t0023g0317 a0001c0001t0026g0117 a0001c0001t0026g0208 a0001c0001t0026g0223 a0001c0001t0029g0138 a0001c0001t0033g0228 a0001c0001t0033g0271 a0001c0001t0034g0130 a0001c0001t0043g0006 a0001c0001t0043g0098 a0001c0001t0049g0215 a0001c0001t0049g0235 a0001c0001t0057g0224 a0001c0001t0058g0033 a0001c0001t0061g0257 a0001c0001t0072g0029 a0001c0001t0077g0301 a0001c0001t0087g0313 a0001c0001t0106g0112 a0001c0001t0113g0110 a0001c0001t0121g0213 a0001c0001t0144g0305 a0001c0001t0154g0239 a0001c0011t0068g0225 a0001c0019t0003g0256 a0002c0002t0008g0221 a0002c0014t0076g0259 a0004c0004t0034g0030 a0006c0006t0132g0074 a0007c0010t0089g0278 a0007c0010t0120g0050	37	328	0.1128	-10	c.771 others(27): Show c.771+6791_771+6800delAGAGAGAGAG	SRRM4	ENSG00000139767.10	transcript	ENST00000267260.5	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRRM4_chr12_118976541_119168051	119158967	TTGTGTGT others(3): Show TTGTGTGTGTG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01361.hp2 HG02083.hp2 HG02895.hp1 others(8): Show HG01361.hp2 HG02083.hp2 HG02895.hp1 HG02922.hp1 HG02965.hp1 HG03098.hp2 HG03195.hp1 HG03453.hp2 HG03540.hp1 HG03710.hp1 NA18953.hp2	a0001 a0003 a0012 others(1): Show a0001 a0003 a0012 a0013	a0001c0001 a0001c0007 a0003c0003 others(2): Show a0001c0001 a0001c0007 a0003c0003 a0012c0015 a0013c0012	a0001c0001t0057 a0001c0001t0058 a0001c0001t0073 others(8): Show a0001c0001t0057 a0001c0001t0058 a0001c0001t0073 a0001c0001t0088 a0001c0001t0096 a0001c0001t0117 a0001c0001t0126 a0001c0007t0071 a0003c0003t0080 a0012c0015t0070 a0013c0012t0098	a0001c0001t0057g0224 a0001c0001t0058g0033 a0001c0001t0073g0024 others(8): Show a0001c0001t0057g0224 a0001c0001t0058g0033 a0001c0001t0073g0024 a0001c0001t0088g0273 a0001c0001t0096g0196 a0001c0001t0117g0315 a0001c0001t0126g0211 a0001c0007t0071g0026 a0003c0003t0080g0023 a0012c0015t0070g0270 a0013c0012t0098g0099	11	328	0.0335	-10	c.22 others(21): Show c.2211_*2220delGTGTGTGTGT	SRRM4	ENSG00000139767.10	transcript	ENST00000267260.5	protein_coding	13/13	2211	INFO_REALIGN_3_PRIME	chr12	TogoVar
SRRM4_chr12_118976541_119168051	119160289	GTCTCTCT others(3): Show GTCTCTCTCTC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02055.hp2 HG02257.hp1 HG02615.hp1 others(3): Show HG02055.hp2 HG02257.hp1 HG02615.hp1 HG02809.hp1 HG02886.hp1 HG03195.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0019 a0001c0001t0035 a0004c0004t0019 a0001c0001t0019 a0001c0001t0035 a0004c0004t0019	a0001c0001t0019g0055 a0001c0001t0019g0096 a0001c0001t0019g0252 others(3): Show a0001c0001t0019g0055 a0001c0001t0019g0096 a0001c0001t0019g0252 a0001c0001t0035g0268 a0001c0001t0035g0272 a0004c0004t0019g0131	6	328	0.0183	-10	c.35 others(21): Show c.3516_*3525delTCTCTCTCTC	SRRM4	ENSG00000139767.10	transcript	ENST00000267260.5	protein_coding	13/13	3516	INFO_REALIGN_3_PRIME	chr12	TogoVar

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