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
SRGAP1_chr12_63839700_64167217	63919499	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02965.hp1 NA19030.hp1 HG02559.hp1 HG02965.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0049 a0001c0002t0008 a0001c0002t0049	a0001c0002t0008g0095 a0001c0002t0008g0096 a0001c0002t0049g0110 a0001c0002t0008g0095 a0001c0002t0008g0096 a0001c0002t0049g0110	3	170	0.0177	16	c.68- others(33): Show c.68-64440_68-64425dupTATATATATATATATA	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	63949116	T T	TCCATATA others(9): Show TCCATATATGTATTTTC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03471.hp2 HG02895.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0071 a0001c0002t0052 a0001c0001t0071 a0001c0002t0052	a0001c0001t0071g0006 a0001c0002t0052g0101 a0001c0001t0071g0006 a0001c0002t0052g0101	2	170	0.0118	16	c.68- others(33): Show c.68-34830_68-34829insCATATATGTATTTTCC	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	63954683	A A	AAAAAAAA others(9): Show AAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0157 a0001c0001t0010g0157	1	170	0.0059	16	c.68- others(33): Show c.68-29255_68-29254insAAAAAAGAAAAAAAAA	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	63992660	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0100 a0001c0003t0100	a0001c0003t0100g0014 a0001c0003t0100g0014	1	170	0.0059	16	c.426 others(33): Show c.426+2629_426+2644dupACACACACACACACAC	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	64039627	A A	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0150 a0001c0006t0150	a0001c0006t0150g0167 a0001c0006t0150g0167	1	170	0.0059	16	c.490 others(33): Show c.490-3163_490-3162insTGTGTGTGTGTGTGTG	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	4/21			chr12	TogoVar
SRGAP1_chr12_63839700_64167217	64039628	C C	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00639.hp1 HG01069.hp1 others(13): Show HG00558.hp2 HG00639.hp1 HG01069.hp1 HG01361.hp2 HG01496.hp1 HG01517.hp1 HG02258.hp1 HG02300.hp2 HG02572.hp2 HG02818.hp1 HG02896.hp2 HG03017.hp2 HG03195.hp1 HG03654.hp1 HG03834.hp2 NA20905.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0012 a0001c0001 a0001c0002 a0004c0012	a0001c0001t0009 a0001c0001t0010 a0001c0001t0079 others(13): Show a0001c0001t0009 a0001c0001t0010 a0001c0001t0079 a0001c0001t0080 a0001c0001t0104 a0001c0002t0003 a0001c0002t0012 a0001c0002t0013 a0001c0002t0027 a0001c0002t0031 a0001c0002t0040 a0001c0002t0043 a0001c0002t0057 a0001c0002t0059 a0001c0002t0065 a0004c0012t0017	a0001c0001t0009g0143 a0001c0001t0010g0157 a0001c0001t0079g0057 others(13): Show a0001c0001t0009g0143 a0001c0001t0010g0157 a0001c0001t0079g0057 a0001c0001t0080g0148 a0001c0001t0104g0051 a0001c0002t0003g0124 a0001c0002t0012g0145 a0001c0002t0013g0087 a0001c0002t0027g0046 a0001c0002t0031g0063 a0001c0002t0040g0019 a0001c0002t0043g0094 a0001c0002t0057g0071 a0001c0002t0059g0017 a0001c0002t0065g0126 a0004c0012t0017g0113	16	170	0.0941	16	c.490 others(33): Show c.490-3145_490-3130dupGTGTGTGTGTGTGTGT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	64044674	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02258.hp1 HG02300.hp2 others(5): Show HG01361.hp2 HG02258.hp1 HG02300.hp2 HG02818.hp1 HG03490.hp2 HG03654.hp1 NA18948.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0104 a0001c0002t0003 a0001c0002t0004 others(5): Show a0001c0001t0104 a0001c0002t0003 a0001c0002t0004 a0001c0002t0013 a0001c0002t0027 a0001c0002t0031 a0001c0002t0043 a0001c0002t0061	a0001c0001t0104g0051 a0001c0002t0003g0124 a0001c0002t0004g0111 others(5): Show a0001c0001t0104g0051 a0001c0002t0003g0124 a0001c0002t0004g0111 a0001c0002t0013g0087 a0001c0002t0027g0046 a0001c0002t0031g0063 a0001c0002t0043g0094 a0001c0002t0061g0135	8	170	0.0471	16	c.801 others(33): Show c.801+1109_801+1124dupTTTTTTTTTTTTTTTT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	64072108	C C	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0112 a0001c0001t0112	a0001c0001t0112g0138 a0001c0001t0112g0138	1	170	0.0059	16	c.112 others(35): Show c.1126-6786_1126-6771dupTGTGTGTGTGTGTGTG	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	8/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	64118710	C C	CTTATTTA others(9): Show CTTATTTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0139 a0003c0005t0139	a0003c0005t0139g0170 a0003c0005t0139g0170	1	170	0.0059	16	c.222 others(35): Show c.2224+2833_2224+2848dupTTTATTTATTTATTTA	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	64150934	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01517.hp2 HG03098.hp2 HG01517.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0067 a0001c0006t0085 a0001c0001t0067 a0001c0006t0085	a0001c0001t0067g0100 a0001c0006t0085g0015 a0001c0001t0067g0100 a0001c0006t0085g0015	2	170	0.0118	16	c.82 others(27): Show c.8273_*8288dupAAAAAAAAAAAAAAAA	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	22/22	8289	INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP2B_chr1_144882288_145100328	144883318	G G	GCGGGGGA others(9): Show GCGGGGGAAAAAGCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	56	0.0179	16	c.88 others(27): Show c.8841_*8842insACGGCTTTTTCCCCCG	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding		3969		chr1	TogoVar
SRGAP2B_chr1_144882288_145100328	145041075	G G	GTATATAT others(9): Show GTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0005 a0001c0001t0008g0005	1	56	0.0179	16	c.68- others(33): Show c.68-45891_68-45876dupTATATATATATATATA	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding	2/9			chr1	TogoVar
SRGAP2B_chr1_144882288_145100328	145044650	T T	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0031 a0002c0002t0001g0031	1	56	0.0179	16	c.67+ others(33): Show c.67+48169_67+48184dupTTTTTTTTTTTTTTTT	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding	2/9			chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121211458	C C	CACACACA others(9): Show CACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	274	0.0037	16	c.67+ others(33): Show c.67+23948_67+23949insCACACACACACATACA	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121235626	G G	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03209.hp1 NA18991.hp2 HG02572.hp1 HG03209.hp1 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0015 a0001c0001t0048 a0001c0001t0006 a0001c0001t0015 a0001c0001t0048	a0001c0001t0006g0138 a0001c0001t0015g0197 a0001c0001t0048g0214 a0001c0001t0006g0138 a0001c0001t0015g0197 a0001c0001t0048g0214	3	274	0.0110	16	c.67+ others(33): Show c.67+48128_67+48129insTTTTTTTTTTTTTTTT	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121331144	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02027.hp1 HG02615.hp2 HG02015.hp2 HG02027.hp1 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0001g0213 a0001c0001t0001g0237 a0001c0001t0001g0240	3	274	0.0110	16	c.423 others(33): Show c.423+6518_423+6533dupAAAAAAAAAAAAAAAA	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121334456	T T	TTTTGTTT others(9): Show TTTTGTTTGTTTGTTTG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0026 a0006c0012t0026	a0006c0012t0026g0003 a0006c0012t0026g0003	1	274	0.0037	16	c.423 others(33): Show c.423+9824_423+9839dupGTTTGTTTGTTTGTTT	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2_chr1_206198541_206469436	206279581	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00735.hp1 HG01167.hp2 others(10): Show HG00423.hp1 HG00735.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01257.hp2 HG02080.hp1 HG02080.hp2 HG02602.hp2 HG02630.hp1 NA18975.hp1 NA19081.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0002t0002 a0001c0002t0027 others(4): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0027 a0001c0003t0004 a0001c0004t0003 a0001c0004t0011 a0001c0005t0001	a0001c0001t0001g0045 a0001c0001t0001g0053 a0001c0001t0001g0181 others(10): Show a0001c0001t0001g0045 a0001c0001t0001g0053 a0001c0001t0001g0181 a0001c0002t0002g0005 a0001c0002t0027g0009 a0001c0003t0004g0118 a0001c0004t0003g0057 a0001c0004t0003g0058 a0001c0004t0003g0059 a0001c0004t0011g0007 a0001c0004t0011g0019 a0001c0004t0011g0039 a0001c0005t0001g0006	13	182	0.0714	16	c.68- others(33): Show c.68-23697_68-23682dupTTTTTTTTTTTTTTTT	SRGAP2	ENSG00000266028.8	transcript	ENST00000573034.8	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2_chr1_206198541_206469436	206353697	A A	AAAATAAA others(9): Show AAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03654.hp1 HG03710.hp2 others(2): Show HG01884.hp2 HG03654.hp1 HG03710.hp2 NA18977.hp2 NA19058.hp2	a0001 a0001	a0001c0003 a0001c0013 a0001c0003 a0001c0013	a0001c0003t0006 a0001c0003t0016 a0001c0003t0028 others(1): Show a0001c0003t0006 a0001c0003t0016 a0001c0003t0028 a0001c0013t0016	a0001c0003t0006g0174 a0001c0003t0006g0178 a0001c0003t0016g0076 others(2): Show a0001c0003t0006g0174 a0001c0003t0006g0178 a0001c0003t0016g0076 a0001c0003t0028g0077 a0001c0013t0016g0121	5	182	0.0275	16	c.423 others(35): Show c.423+10700_423+10715dupATAAATAAATAAATAA	SRGAP2	ENSG00000266028.8	transcript	ENST00000573034.8	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2_chr1_206198541_206469436	206359798	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03486.hp2 HG02622.hp1 HG03486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0159 a0001c0003t0010g0160 a0001c0003t0010g0159 a0001c0003t0010g0160	2	182	0.0110	16	c.423 others(35): Show c.423+16801_423+16816dupTTTTTTTTTTTTTTTT	SRGAP2	ENSG00000266028.8	transcript	ENST00000573034.8	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP3_chr3_8975591_9254646	9003479	A A	AAAACAAA others(9): Show AAAACAAACAAACAAAC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0120 a0001c0001t0004g0120	1	228	0.0044	16	c.222 others(35): Show c.2227+6813_2227+6828dupGTTTGTTTGTTTGTTT	SRGAP3	ENSG00000196220.17	transcript	ENST00000383836.8	protein_coding	18/21			chr3	TogoVar
SRGAP3_chr3_8975591_9254646	9123732	A A	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02109.hp1 HG02647.hp1 others(3): Show HG01515.hp2 HG02109.hp1 HG02647.hp1 HG03098.hp1 NA19043.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0010 a0001c0001 a0002c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0023 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0023 a0001c0001t0042 a0001c0001t0044 a0002c0010t0015	a0001c0001t0001g0045 a0001c0001t0002g0081 a0001c0001t0023g0134 others(3): Show a0001c0001t0001g0045 a0001c0001t0002g0081 a0001c0001t0023g0134 a0001c0001t0042g0185 a0001c0001t0044g0159 a0002c0010t0015g0011	6	228	0.0263	16	c.260 others(31): Show c.260+977_260+992dupCACACACACACACACA	SRGAP3	ENSG00000196220.17	transcript	ENST00000383836.8	protein_coding	2/21			chr3	TogoVar
SRGAP3_chr3_8975591_9254646	9164276	T T	TTTTATTT others(9): Show TTTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00423.hp1 others(55): Show HG00099.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01109.hp2 HG01175.hp2 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01934.hp1 HG01934.hp2 HG01981.hp1 HG01993.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02165.hp1 HG02451.hp1 HG02486.hp1 HG02683.hp1 HG02683.hp2 HG02738.hp2 HG02895.hp1 HG03195.hp1 HG03239.hp1 HG03704.hp1 HG03831.hp2 NA18942.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18998.hp2 NA19011.hp2 NA19012.hp1 NA19057.hp1 NA19067.hp1 NA19087.hp2 NA19090.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0008	a0001c0001 a0001c0005 a0001c0006 others(6): Show a0001c0001 a0001c0005 a0001c0006 a0001c0011 a0001c0012 a0001c0013 a0003c0008 a0006c0018 a0008c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0001t0028 a0001c0001t0033 a0001c0001t0037 a0001c0001t0041 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0049 a0001c0005t0001 a0001c0006t0006 a0001c0011t0022 a0001c0012t0001 a0001c0013t0001 a0003c0008t0002 a0006c0018t0019 a0008c0020t0002	a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0045 others(55): Show a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0062 a0001c0001t0001g0085 a0001c0001t0001g0125 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0161 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0221 a0001c0001t0002g0017 a0001c0001t0002g0026 a0001c0001t0002g0047 a0001c0001t0002g0063 a0001c0001t0002g0067 a0001c0001t0002g0115 a0001c0001t0002g0130 a0001c0001t0002g0132 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0165 a0001c0001t0002g0169 a0001c0001t0002g0184 a0001c0001t0002g0203 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0003g0113 a0001c0001t0003g0139 a0001c0001t0003g0146 a0001c0001t0003g0180 a0001c0001t0006g0030 a0001c0001t0006g0108 a0001c0001t0006g0131 a0001c0001t0006g0209 a0001c0001t0011g0100 a0001c0001t0013g0211 a0001c0001t0016g0137 a0001c0001t0028g0213 a0001c0001t0033g0050 a0001c0001t0037g0217 a0001c0001t0041g0083 a0001c0001t0043g0101 a0001c0001t0044g0159 a0001c0001t0045g0123 a0001c0001t0046g0223 a0001c0001t0049g0084 a0001c0005t0001g0007 a0001c0006t0006g0151 a0001c0011t0022g0010 a0001c0012t0001g0168 a0001c0013t0001g0057 a0003c0008t0002g0140 a0006c0018t0019g0060 a0008c0020t0002g0141	58	228	0.2544	16	c.68- others(33): Show c.68-39375_68-39360dupTAAATAAATAAATAAA	SRGAP3	ENSG00000196220.17	transcript	ENST00000383836.8	protein_coding	1/21			chr3	TogoVar
SRL_chr16_4184374_4247080	4204406	T T	TACAGCCC others(9): Show TACAGCCCCGGCCTCCA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02258.hp2 HG02486.hp1 others(19): Show HG01099.hp1 HG02258.hp2 HG02486.hp1 HG02572.hp2 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02965.hp1 HG02976.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 NA18999.hp2 NA19030.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0002t0042	a0001c0001t0001g0068 a0001c0001t0001g0265 a0001c0001t0002g0015 others(18): Show a0001c0001t0001g0068 a0001c0001t0001g0265 a0001c0001t0002g0015 a0001c0001t0004g0067 a0001c0001t0006g0008 a0001c0001t0006g0052 a0001c0001t0007g0002 a0001c0001t0007g0006 a0001c0001t0007g0013 a0001c0001t0007g0057 a0001c0001t0007g0059 a0001c0001t0008g0079 a0001c0001t0010g0016 a0001c0001t0010g0056 a0001c0001t0010g0060 a0001c0001t0010g0078 a0001c0001t0012g0058 a0001c0001t0012g0061 a0001c0001t0012g0065 a0001c0001t0012g0077 a0001c0002t0042g0347	22	358	0.0615	16	c.163 others(31): Show c.163+126_163+127insTGGAGGCCGGGGCTGT	SRL	ENSG00000185739.13	transcript	ENST00000399609.7	protein_coding	2/5			chr16	TogoVar
SRL_chr16_4184374_4247080	4204406	T T	TACAGCCC others(9): Show TACAGCCCCGGCCTCTA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00423.hp2 others(154): Show HG00280.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG02027.hp1 HG02040.hp2 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03704.hp2 HG03834.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp1 NA18955.hp2 NA18960.hp1 NA18964.hp1 NA18968.hp1 NA18972.hp2 NA18973.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19070.hp2 NA19074.hp2 NA19084.hp2 NA19085.hp1 NA19091.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0002c0005 a0005c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0029 a0001c0001t0035 a0001c0001t0036 a0001c0001t0038 a0001c0001t0040 a0001c0002t0003 a0001c0002t0005 a0001c0002t0019 a0001c0002t0020 a0001c0002t0034 a0001c0002t0039 a0001c0003t0009 a0001c0004t0001 a0001c0004t0002 a0001c0006t0011 a0002c0005t0009 a0005c0011t0001	a0001c0001t0001g0029 a0001c0001t0001g0048 a0001c0001t0001g0062 others(152): Show a0001c0001t0001g0029 a0001c0001t0001g0048 a0001c0001t0001g0062 a0001c0001t0001g0075 a0001c0001t0001g0085 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0142 a0001c0001t0001g0150 a0001c0001t0001g0158 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0190 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0215 a0001c0001t0001g0219 a0001c0001t0001g0226 a0001c0001t0001g0235 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0258 a0001c0001t0001g0277 a0001c0001t0001g0282 a0001c0001t0001g0285 a0001c0001t0001g0290 a0001c0001t0001g0293 a0001c0001t0001g0301 a0001c0001t0001g0309 a0001c0001t0001g0314 a0001c0001t0001g0324 a0001c0001t0001g0332 a0001c0001t0001g0336 a0001c0001t0001g0338 a0001c0001t0002g0025 a0001c0001t0002g0031 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0103 a0001c0001t0002g0115 a0001c0001t0002g0131 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0144 a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0164 a0001c0001t0002g0173 a0001c0001t0002g0178 a0001c0001t0002g0189 a0001c0001t0002g0218 a0001c0001t0002g0225 a0001c0001t0002g0239 a0001c0001t0002g0297 a0001c0001t0002g0331 a0001c0001t0002g0344 a0001c0001t0002g0353 a0001c0001t0003g0179 a0001c0001t0004g0072 a0001c0001t0004g0143 a0001c0001t0004g0152 a0001c0001t0004g0176 a0001c0001t0004g0212 a0001c0001t0004g0222 a0001c0001t0004g0228 a0001c0001t0004g0269 a0001c0001t0004g0327 a0001c0001t0006g0017 a0001c0001t0006g0045 a0001c0001t0006g0063 a0001c0001t0006g0261 a0001c0001t0006g0272 a0001c0001t0006g0283 a0001c0001t0006g0328 a0001c0001t0007g0021 a0001c0001t0007g0044 a0001c0001t0008g0273 a0001c0001t0008g0274 a0001c0001t0010g0005 a0001c0001t0010g0294 a0001c0001t0011g0042 a0001c0001t0011g0276 a0001c0001t0014g0080 a0001c0001t0015g0066 a0001c0001t0015g0107 a0001c0001t0015g0275 a0001c0001t0021g0315 a0001c0001t0022g0012 a0001c0001t0023g0074 a0001c0001t0024g0257 a0001c0001t0025g0227 a0001c0001t0029g0076 a0001c0001t0035g0019 a0001c0001t0036g0267 a0001c0001t0038g0033 a0001c0001t0040g0149 a0001c0002t0003g0003 a0001c0002t0003g0034 a0001c0002t0003g0081 a0001c0002t0003g0098 a0001c0002t0003g0118 a0001c0002t0003g0153 a0001c0002t0003g0168 a0001c0002t0003g0177 a0001c0002t0003g0197 a0001c0002t0003g0214 a0001c0002t0003g0229 a0001c0002t0003g0246 a0001c0002t0003g0253 a0001c0002t0003g0254 a0001c0002t0003g0312 a0001c0002t0003g0318 a0001c0002t0003g0330 a0001c0002t0003g0354 a0001c0002t0005g0051 a0001c0002t0005g0094 a0001c0002t0005g0095 a0001c0002t0005g0100 a0001c0002t0005g0101 a0001c0002t0005g0114 a0001c0002t0005g0148 a0001c0002t0005g0250 a0001c0002t0005g0256 a0001c0002t0019g0264 a0001c0002t0020g0201 a0001c0002t0020g0202 a0001c0002t0034g0303 a0001c0002t0039g0145 a0001c0003t0009g0316 a0001c0004t0001g0001 a0001c0004t0001g0317 a0001c0004t0002g0037 a0001c0006t0011g0292 a0002c0005t0009g0127 a0005c0011t0001g0163	157	358	0.4386	16	c.163 others(31): Show c.163+126_163+127insTAGAGGCCGGGGCTGT	SRL	ENSG00000185739.13	transcript	ENST00000399609.7	protein_coding	2/5			chr16	TogoVar
SRL_chr16_4184374_4247080	4213404	C C	CTTTTTCT others(9): Show CTTTTTCTTTTTCTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01891.hp1 HG02257.hp1 others(17): Show HG01069.hp1 HG01891.hp1 HG02257.hp1 HG02559.hp1 HG02572.hp2 HG02647.hp2 HG02895.hp2 HG02896.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03486.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG06807.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0001c0012	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0002t0043 a0001c0007t0030 a0001c0012t0032	a0001c0001t0001g0009 a0001c0001t0001g0184 a0001c0001t0001g0216 others(17): Show a0001c0001t0001g0009 a0001c0001t0001g0184 a0001c0001t0001g0216 a0001c0001t0001g0280 a0001c0001t0004g0053 a0001c0001t0006g0017 a0001c0001t0006g0045 a0001c0001t0006g0063 a0001c0001t0006g0261 a0001c0001t0006g0283 a0001c0001t0008g0023 a0001c0001t0008g0079 a0001c0001t0010g0078 a0001c0001t0011g0042 a0001c0001t0012g0061 a0001c0001t0012g0077 a0001c0001t0014g0080 a0001c0002t0043g0333 a0001c0007t0030g0007 a0001c0012t0032g0291	20	358	0.0559	16	c.62- others(31): Show c.62-8771_62-8770insAAAAGAAAAAGAAAAA	SRL	ENSG00000185739.13	transcript	ENST00000399609.7	protein_coding	1/5			chr16	TogoVar
SRL_chr16_4184374_4247080	4220278	A A	AACACACA others(9): Show AACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00558.hp2 HG00735.hp1 others(53): Show HG00140.hp1 HG00558.hp2 HG00735.hp1 HG01081.hp2 HG01106.hp2 HG01243.hp2 HG01255.hp1 HG01433.hp2 HG01515.hp1 HG01517.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp2 HG02040.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02300.hp1 HG02300.hp2 HG02683.hp2 HG02723.hp1 HG02818.hp1 HG02922.hp2 HG02976.hp2 HG03486.hp1 HG03491.hp1 HG03834.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18954.hp1 NA18955.hp2 NA18972.hp1 NA18973.hp1 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp1 NA18999.hp1 NA19001.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19079.hp2 NA19084.hp1 NA19090.hp1 NA20129.hp1 NA20300.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0024 a0001c0001t0037 a0001c0002t0003 a0001c0002t0034 a0001c0002t0043 a0001c0006t0011	a0001c0001t0001g0014 a0001c0001t0001g0091 a0001c0001t0001g0104 others(53): Show a0001c0001t0001g0014 a0001c0001t0001g0091 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0188 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0204 a0001c0001t0001g0215 a0001c0001t0001g0232 a0001c0001t0001g0249 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0271 a0001c0001t0001g0277 a0001c0001t0001g0289 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0313 a0001c0001t0001g0324 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0348 a0001c0001t0002g0136 a0001c0001t0002g0138 a0001c0001t0002g0189 a0001c0001t0002g0225 a0001c0001t0002g0344 a0001c0001t0004g0176 a0001c0001t0004g0222 a0001c0001t0004g0228 a0001c0001t0004g0244 a0001c0001t0004g0322 a0001c0001t0004g0327 a0001c0001t0007g0044 a0001c0001t0010g0078 a0001c0001t0013g0351 a0001c0001t0015g0107 a0001c0001t0024g0257 a0001c0001t0037g0011 a0001c0002t0003g0185 a0001c0002t0003g0200 a0001c0002t0003g0245 a0001c0002t0003g0246 a0001c0002t0003g0312 a0001c0002t0003g0330 a0001c0002t0034g0303 a0001c0002t0043g0333 a0001c0006t0011g0296	56	358	0.1564	16	c.62- others(33): Show c.62-15660_62-15645dupGTGTGTGTGTGTGTGT	SRL	ENSG00000185739.13	transcript	ENST00000399609.7	protein_coding	1/5			chr16	TogoVar
SRL_chr16_4184374_4247080	4227051	A A	AATGGATG others(9): Show AATGGATGGATGGATGG	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA20129.hp2 HG02055.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0022 a0001c0001t0001 a0001c0001t0022	a0001c0001t0001g0010 a0001c0001t0022g0012 a0001c0001t0001g0010 a0001c0001t0022g0012	2	358	0.0056	16	c.61+ others(33): Show c.61+14940_61+14955dupCCATCCATCCATCCAT	SRL	ENSG00000185739.13	transcript	ENST00000399609.7	protein_coding	1/5			chr16	TogoVar
SRP14_chr15_40030690_40044181	40037279	G G	GAAAAAAA others(9): Show GAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02080.hp1 HG03239.hp1 others(2): Show HG01516.hp2 HG02080.hp1 HG03239.hp1 NA18948.hp1 NA19002.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0017 a0001c0002t0001g0068 a0001c0002t0001g0017 a0001c0002t0001g0068	5	426	0.0117	16	c.211 others(31): Show c.211-262_211-261insTTTTTTTTTTTTTTTT	SRP14	ENSG00000140319.11	transcript	ENST00000267884.11	protein_coding	3/4			chr15	TogoVar
SRP14_chr15_40030690_40044181	40037279	G G	GGAAAAAA others(9): Show GGAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00673.hp2 HG02040.hp2 others(4): Show HG00621.hp1 HG00673.hp2 HG02040.hp2 HG03927.hp1 HG04199.hp1 NA19085.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	7	426	0.0164	16	c.211 others(31): Show c.211-262_211-261insTTTTTTTTTTTTTTTC	SRP14	ENSG00000140319.11	transcript	ENST00000267884.11	protein_coding	3/4			chr15	TogoVar
SRP54_chr14_34977992_35034567	34988578	A A	AAAAAAAA others(9): Show AAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00741.hp2 HG01257.hp1 others(2): Show HG00099.hp1 HG00741.hp2 HG01257.hp1 HG02615.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 others(2): Show a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272	5	396	0.0126	16	c.-34 others(33): Show c.-34+5364_-34+5365insAAAAAAAATATATATA	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP54_chr14_34977992_35034567	35023787	A A	AACACACA others(9): Show AACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0273 a0001c0001t0002g0273	1	396	0.0025	16	c.132 others(33): Show c.1327+728_1327+743dupACACACACACACACAC	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP68_chr17_76033785_76077517	76070850	G G	GCACACAC others(9): Show GCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG03491.hp1 HG03492.hp2 others(5): Show HG02523.hp2 HG03491.hp1 HG03492.hp2 NA18747.hp1 NA18948.hp2 NA18997.hp2 NA19007.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 others(5): Show a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150	8	365	0.0219	16	c.185 others(31): Show c.185-422_185-407dupTGTGTGTGTGTGTGTG	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	1/15			chr17	TogoVar
SRP72_chr4_56462617_56508681	56484026	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG01516.hp2 others(11): Show HG00099.hp1 HG00323.hp1 HG01516.hp2 HG02922.hp2 HG03834.hp2 NA18947.hp1 NA18959.hp1 NA18983.hp2 NA18989.hp1 NA18998.hp2 NA19058.hp1 NA19070.hp2 NA19077.hp1 NA19085.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0036 a0001c0004t0003g0186 a0001c0004t0003g0187 others(10): Show a0001c0004t0003g0036 a0001c0004t0003g0186 a0001c0004t0003g0187 a0001c0004t0003g0192 a0001c0004t0003g0197 a0001c0004t0003g0198 a0001c0004t0003g0199 a0001c0004t0003g0207 a0001c0004t0003g0213 a0001c0004t0003g0215 a0001c0004t0003g0219 a0001c0004t0003g0220 a0001c0004t0003g0221	14	388	0.0361	16	c.958 others(31): Show c.958-700_958-685dupTTTTTTTTTTTTTTTT	SRP72	ENSG00000174780.17	transcript	ENST00000642900.1	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
SRP9_chr1_225772826_225795464	225784229	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0118 a0001c0001t0004g0118	1	474	0.0021	16	c.141 others(31): Show c.141+881_141+896dupTTTTTTTTTTTTTTTT	SRP9	ENSG00000143742.14	transcript	ENST00000304786.12	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRPK1_chr6_35827966_35926098	35832248	A A	ATATTTAT others(9): Show ATATTTATTTATTTATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG01070.hp2 HG01071.hp1 others(24): Show HG00544.hp2 HG01070.hp2 HG01071.hp1 HG01433.hp1 HG02451.hp1 HG02683.hp1 HG02970.hp1 HG03688.hp2 HG03834.hp1 HG04184.hp2 HG04204.hp2 NA18522.hp2 NA18612.hp1 NA18939.hp2 NA18943.hp2 NA18965.hp2 NA18974.hp2 NA18991.hp1 NA19000.hp1 NA19001.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19067.hp1 NA19088.hp2 NA19090.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0019 a0001c0001t0001 a0001c0002t0002 a0001c0002t0019	a0001c0001t0001g0039 a0001c0001t0001g0066 a0001c0002t0002g0004 others(23): Show a0001c0001t0001g0039 a0001c0001t0001g0066 a0001c0002t0002g0004 a0001c0002t0002g0246 a0001c0002t0002g0249 a0001c0002t0002g0252 a0001c0002t0002g0254 a0001c0002t0002g0261 a0001c0002t0002g0262 a0001c0002t0002g0263 a0001c0002t0002g0264 a0001c0002t0002g0266 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0271 a0001c0002t0002g0275 a0001c0002t0002g0280 a0001c0002t0002g0283 a0001c0002t0002g0288 a0001c0002t0002g0293 a0001c0002t0002g0294 a0001c0002t0002g0300 a0001c0002t0002g0317 a0001c0002t0002g0325 a0001c0002t0002g0333 a0001c0002t0019g0292	27	342	0.0790	16	c.30 others(27): Show c.3040_*3055dupAATAAATAAATAAATA	SRPK1	ENSG00000096063.16	transcript	ENST00000373825.7	protein_coding		717		chr6	TogoVar
SRPK1_chr6_35827966_35926098	35832284	T T	TTATTTAT others(9): Show TTATTTATTTATTTATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0265 a0001c0002t0002g0265	1	342	0.0029	16	c.30 others(27): Show c.3019_*3020insGATAAATAAATAAATA	SRPK1	ENSG00000096063.16	transcript	ENST00000373825.7	protein_coding		681		chr6	TogoVar
SRPK1_chr6_35827966_35926098	35880742	A A	AAAAAAAA others(9): Show AAAAAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02647.hp1 HG02717.hp2 others(1): Show HG01071.hp2 HG02647.hp1 HG02717.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0003t0004 a0001c0001t0001 a0001c0001t0004 a0001c0003t0004	a0001c0001t0001g0170 a0001c0001t0004g0226 a0001c0001t0004g0228 others(1): Show a0001c0001t0001g0170 a0001c0001t0004g0226 a0001c0001t0004g0228 a0001c0003t0004g0230	4	342	0.0117	16	c.478 others(33): Show c.478+5981_478+5982insCTTTCTTTCTTTTTTT	SRPK1	ENSG00000096063.16	transcript	ENST00000373825.7	protein_coding	6/15			chr6	TogoVar
SRPK2_chr7_105111374_105393921	105159448	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01256.hp2 HG01257.hp2 others(9): Show HG00733.hp2 HG01256.hp2 HG01257.hp2 HG01496.hp2 HG02572.hp2 HG02683.hp1 HG02886.hp1 HG03195.hp2 HG03516.hp1 HG03654.hp2 NA18981.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0001g0249 others(9): Show a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0001g0249 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0281 a0001c0001t0002g0228 a0001c0001t0002g0240 a0001c0001t0002g0261	12	282	0.0426	16	c.621 others(33): Show c.621+1043_621+1058dupTTTTTTTTTTTTTTTT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	7/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105168745	A A	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01358.hp1 HG01361.hp2 others(4): Show HG01069.hp2 HG01358.hp1 HG01361.hp2 HG02809.hp1 HG02922.hp2 HG04115.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0187 a0001c0001t0001g0235 others(4): Show a0001c0001t0001g0065 a0001c0001t0001g0187 a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0001g0248 a0001c0001t0001g0265 a0001c0001t0001g0275	7	282	0.0248	16	c.338 others(31): Show c.338+396_338+411dupCACACACACACACACA	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	4/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105170745	G G	GAGGAAGG others(9): Show GAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00558.hp2 others(40): Show HG00423.hp2 HG00438.hp2 HG00558.hp2 HG01074.hp2 HG01123.hp1 HG01515.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG02040.hp1 HG02055.hp1 HG02132.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp2 HG02622.hp1 HG02897.hp2 HG03017.hp1 HG03491.hp2 HG03942.hp1 NA18522.hp1 NA18747.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18955.hp1 NA18959.hp2 NA18960.hp2 NA18965.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18989.hp2 NA18991.hp1 NA18999.hp2 NA19002.hp2 NA19058.hp1 NA19074.hp1 NA19079.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0006 a0001c0001 a0001c0002 a0003c0006	a0001c0001t0001 a0001c0001t0003 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0003 a0003c0006t0001	a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0023 others(40): Show a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0188 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0003g0151 a0001c0002t0003g0034 a0001c0002t0003g0036 a0001c0002t0003g0038 a0001c0002t0003g0116 a0003c0006t0001g0144	43	282	0.1525	16	c.230 others(33): Show c.230-1496_230-1481dupTCCTTCCTTCCTTCCT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	3/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105170778	A A	AGGAAGGA others(9): Show AGGAAGGAAGGAAGGAC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0041 a0001c0002t0003g0041	1	282	0.0036	16	c.230 others(33): Show c.230-1514_230-1513insGTCCTTCCTTCCTTCC	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	3/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105233091	A A	AGAAGGAA others(9): Show AGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01069.hp1 HG01071.hp2 others(2): Show HG00099.hp2 HG01069.hp1 HG01071.hp2 HG02451.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0013 a0001c0001t0001g0124 a0001c0001t0001g0258 others(2): Show a0001c0001t0001g0013 a0001c0001t0001g0124 a0001c0001t0001g0258 a0001c0001t0002g0231 a0001c0001t0002g0263	5	282	0.0177	16	c.72- others(33): Show c.72-29322_72-29307dupCTTCCTTCCTTCCTTC	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105245034	A A	AACACACA others(9): Show AACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01256.hp2 HG00733.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0255 a0001c0001t0002g0261 a0001c0001t0001g0255 a0001c0001t0002g0261	2	282	0.0071	16	c.72- others(33): Show c.72-41265_72-41250dupGTGTGTGTGTGTGTGT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105247513	A A	AAAACACG others(9): Show AAAACACGCACACACAC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	282	0.0036	16	c.72- others(33): Show c.72-43729_72-43728insGTGTGTGTGCGTGTTT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105247531	A A	AACACACA others(9): Show AACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01243.hp1 HG01255.hp2 others(13): Show HG00621.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp2 HG01884.hp2 HG01928.hp2 HG01993.hp2 HG02071.hp1 HG02132.hp2 HG02165.hp1 HG02280.hp1 HG02647.hp2 HG04115.hp2 NA18612.hp1 NA18975.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0001 a0001c0001t0002 a0001c0001t0011	a0001c0001t0001g0232 a0001c0001t0001g0236 a0001c0001t0001g0251 others(13): Show a0001c0001t0001g0232 a0001c0001t0001g0236 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0256 a0001c0001t0001g0264 a0001c0001t0001g0267 a0001c0001t0001g0271 a0001c0001t0001g0275 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0240 a0001c0001t0002g0250 a0001c0001t0011g0273	16	282	0.0567	16	c.72- others(33): Show c.72-43762_72-43747dupGTGTGTGTGTGTGTGT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105323967	T T	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0144 a0003c0006t0001g0144	1	282	0.0036	16	c.71+ others(33): Show c.71+64665_71+64680dupCACACACACACACACA	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105324010	T T	TGTGTGTG others(9): Show TGTGTGTGTGTGGGTGG	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA19010.hp1 NA18999.hp1 NA19010.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0035 a0001c0002t0003g0042 a0001c0002t0003g0035 a0001c0002t0003g0042	2	282	0.0071	16	c.71+ others(33): Show c.71+64637_71+64638insCCACCCACACACACAC	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105376882	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	282	0.0036	16	c.71+ others(33): Show c.71+11750_71+11765dupGTGTGTGTGTGTGTGT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
SRPX2_chrX_100639199_100680788	100657349	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG01934.hp1 others(5): Show HG00438.hp1 HG00438.hp2 HG01934.hp1 NA18943.hp1 NA18956.hp1 NA18998.hp2 NA19072.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0048 a0001c0001t0001 a0001c0001t0018 a0001c0001t0048	a0001c0001t0001g0012 a0001c0001t0001g0061 a0001c0001t0001g0066 others(4): Show a0001c0001t0001g0012 a0001c0001t0001g0061 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0204 a0001c0001t0018g0070 a0001c0001t0048g0063	8	318	0.0252	16	c.164 others(33): Show c.164-4823_164-4808dupTTTTTTTTTTTTTTTT	SRPX2	ENSG00000102359.9	transcript	ENST00000373004.5	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar

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