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
SQSTM1_chr5_179815905_179843078	179843059	A A	AAGGAAGG others(13): Show AAGGAAGGAAGGGAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0152 a0001c0002t0002g0152	1	462	0.0022	20	c.64 others(31): Show c.6466_*6467insAGGAAGGAAGGGAGGGAGGG	SQSTM1	ENSG00000161011.20	transcript	ENST00000389805.9	protein_coding		4982		chr5	TogoVar
SRBD1_chr2_45383680_45616267	45415677	G G	GGGACGGG others(13): Show GGGACGGGAGAGGAGGGGAGA	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0066 a0003c0003t0001g0066	1	358	0.0028	20	c.233 others(39): Show c.2334-2385_2334-2384insTCTCCCCTCCTCTCCCGTCC	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45415687	G G	GGGAGAGG others(13): Show GGGAGAGGAGAGGAGAGGAGA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	358	0.0028	20	c.233 others(39): Show c.2334-2414_2334-2395dupTCTCCTCTCCTCTCCTCTCC	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45415748	C C	CGAGAGGA others(13): Show CGAGAGGAGAGGAGAGGAGAG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	358	0.0028	20	c.233 others(39): Show c.2334-2475_2334-2456dupCTCTCCTCTCCTCTCCTCTC	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45509598	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	358	0.0028	20	c.187 others(41): Show c.1875-21287_1875-21268dupGTGTGTGTGTGTGTGTGTGT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	14/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45571516	C C	CCAAAAAA others(13): Show CCAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0205 a0001c0001t0002g0205	1	358	0.0028	20	c.130 others(39): Show c.1305+1671_1305+1690dupTTTTTTTTTTTTTTTTTTTG	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	9/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45571517	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01978.hp1 NA18940.hp1 others(7): Show HG00099.hp1 HG01978.hp1 NA18940.hp1 NA18945.hp1 NA18950.hp2 NA18954.hp2 NA18955.hp2 NA18994.hp2 NA19012.hp1 NA19068.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0055 a0003c0003t0001g0056 a0003c0003t0001g0057 others(7): Show a0003c0003t0001g0055 a0003c0003t0001g0056 a0003c0003t0001g0057 a0003c0003t0001g0058 a0003c0003t0001g0066 a0003c0003t0001g0067 a0003c0003t0001g0068 a0003c0003t0001g0069 a0003c0003t0001g0114 a0003c0003t0001g0293	10	358	0.0279	20	c.130 others(39): Show c.1305+1670_1305+1689dupTTTTTTTTTTTTTTTTTTTT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	9/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45571518	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01243.hp1 HG02622.hp1 others(7): Show HG01169.hp1 HG01243.hp1 HG02622.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG03041.hp1 HG03471.hp2 NA18522.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0002g0129 others(7): Show a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0201	10	358	0.0279	20	c.130 others(39): Show c.1305+1688_1305+1689insGTTTTTTTTTTTTTTTTTTT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	9/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45571519	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0136 a0002c0002t0001g0136	1	358	0.0028	20	c.130 others(39): Show c.1305+1687_1305+1688insGTTTTTTTTTTTTTTTTTTT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	9/20			chr2	TogoVar
SRCIN1_chr17_38525031_38610952	38541241	A A	AAAAATAA others(13): Show AAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02896.hp2 HG02922.hp2 others(2): Show HG02109.hp2 HG02896.hp2 HG02922.hp2 HG03453.hp2 NA18906.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0011 a0001c0006t0034 a0001c0006t0011 a0001c0006t0034	a0001c0006t0011g0083 a0001c0006t0011g0110 a0001c0006t0011g0123 others(2): Show a0001c0006t0011g0083 a0001c0006t0011g0110 a0001c0006t0011g0123 a0001c0006t0011g0178 a0001c0006t0034g0122	5	261	0.0192	20	c.341 others(39): Show c.3417+2562_3417+2581dupATTTTATTTTATTTTATTTT	SRCIN1	ENSG00000277363.5	transcript	ENST00000617146.5	protein_coding	18/18			chr17	TogoVar
SRCIN1_chr17_38525031_38610952	38566866	T T	TTTCCTTC others(13): Show TTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02132.hp1 HG02257.hp1 others(10): Show HG02056.hp2 HG02132.hp1 HG02257.hp1 HG02280.hp1 HG02738.hp2 HG02965.hp1 HG03209.hp2 HG03239.hp2 HG03654.hp2 HG04228.hp1 NA19007.hp1 NA19043.hp2 NA19081.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0004 others(1): Show a0001c0001 a0001c0002 a0002c0004 a0004c0012	a0001c0001t0001 a0001c0002t0002 a0001c0002t0017 others(4): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0017 a0001c0002t0018 a0001c0002t0027 a0002c0004t0005 a0004c0012t0019	a0001c0001t0001g0050 a0001c0001t0001g0069 a0001c0001t0001g0194 others(9): Show a0001c0001t0001g0050 a0001c0001t0001g0069 a0001c0001t0001g0194 a0001c0002t0002g0004 a0001c0002t0002g0145 a0001c0002t0002g0171 a0001c0002t0017g0157 a0001c0002t0018g0141 a0001c0002t0027g0012 a0002c0004t0005g0073 a0002c0004t0005g0153 a0004c0012t0019g0241	13	261	0.0498	20	c.345 others(37): Show c.345+1325_345+1344dupGGAAGGAAGGAAGGAAGGAA	SRCIN1	ENSG00000277363.5	transcript	ENST00000617146.5	protein_coding	3/18			chr17	TogoVar
SRC_chr20_37341140_37411050	37361834	T T	TGCCGGGG others(13): Show TGCCGGGGTCTCTGTGTGCAG	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA19030.hp2 HG02258.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0190 a0001c0001t0013g0051 a0001c0001t0001g0190 a0001c0001t0013g0051	2	282	0.0071	20	c.-24 others(39): Show c.-246-3369_-246-3368insCCGGGGTCTCTGTGTGCAGG	SRC	ENSG00000197122.13	transcript	ENST00000373578.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr20	TogoVar
SRC_chr20_37341140_37411050	37361870	T T	TGCCGGGG others(13): Show TGCCGGGGTCTCTGTGTGCAG	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA18985.hp2 HG02258.hp1 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0099 a0001c0001t0013g0051 a0001c0001t0001g0099 a0001c0001t0013g0051	2	282	0.0071	20	c.-24 others(39): Show c.-246-3333_-246-3332insCCGGGGTCTCTGTGTGCAGG	SRC	ENSG00000197122.13	transcript	ENST00000373578.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr20	TogoVar
SRD5A2_chr2_31517480_31585938	31526104	C C	CATATATA others(13): Show CATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0333 a0001c0001t0014g0333	1	386	0.0026	20	c.91 others(27): Show c.91_*92insATATATATATATATATATAT	SRD5A2	ENSG00000277893.2	transcript	ENST00000622030.2	protein_coding	5/5	91		chr2	TogoVar
SREBF1_chr17_17806334_17841986	17829205	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	352	0.0028	20	c.91+ others(35): Show c.91+7521_91+7522insATATTTTTTTTTTTTTTTTT	SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding	1/18			chr17	TogoVar
SREBF1_chr17_17806334_17841986	17829205	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	352	0.0028	20	c.91+ others(35): Show c.91+7521_91+7522insATATATATTTTTTTTTTTTT	SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding	1/18			chr17	TogoVar
SREBF1_chr17_17806334_17841986	17829205	A A	AAAAAAAA others(13): Show AAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	352	0.0028	20	c.91+ others(35): Show c.91+7521_91+7522insATATATATATTTTTTTTTTT	SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding	1/18			chr17	TogoVar
SREBF1_chr17_17806334_17841986	17834025	C C	CAGAGAGA others(13): Show CAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01192.hp1 HG02486.hp1 others(3): Show HG01070.hp1 HG01192.hp1 HG02486.hp1 HG02809.hp1 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0125 a0001c0001t0009g0126 a0001c0001t0009g0127 others(3): Show a0001c0001t0009g0125 a0001c0001t0009g0126 a0001c0001t0009g0127 a0001c0001t0009g0128 a0001c0001t0009g0129 a0001c0001t0009g0130	6	352	0.0171	20	c.91+ others(35): Show c.91+2701_91+2702insCTCTCTCTCTCTCTCTCTCT	SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding	1/18			chr17	TogoVar
SREBF2_chr22_41828105_41912305	41906182	T T	TCTGCGTT others(13): Show TCTGCGTTCCCTCCCCTGGGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0179 a0001c0001t0020g0179	1	336	0.0030	20	c.52 others(29): Show c.526_*545dupCGTTCCCTCCCCTGGGCCTG	SREBF2	ENSG00000198911.13	transcript	ENST00000361204.9	protein_coding	19/19	546	INFO_REALIGN_3_PRIME	chr22	TogoVar
SREK1IP1_chr5_64713148_64773691	64727553	A A	ATATATAT others(13): Show ATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03139.hp1 HG03453.hp2 HG02970.hp1 HG03139.hp1 HG03453.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0068 a0001c0003t0008g0069 a0001c0003t0008g0071 a0001c0003t0008g0068 a0001c0003t0008g0069 a0001c0003t0008g0071	3	342	0.0088	20	c.278 others(35): Show c.278+553_278+554insAATATATATATATATATATA	SREK1IP1	ENSG00000153006.16	transcript	ENST00000513458.9	protein_coding	4/4			chr5	TogoVar
SRFBP1_chr5_121956975_122033633	121961746	C C	CACACACA others(13): Show CACACACACACACACACACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0058 a0001c0001t0003g0058	1	228	0.0044	20	c.-28 others(29): Show c.-287_-286insACACACACACACACACACAA	SRFBP1	ENSG00000151304.6	transcript	ENST00000339397.5	protein_coding		228		chr5	TogoVar
SRF_chr6_43166269_43186506	43177228	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0055 a0001c0001t0007g0055	1	356	0.0028	20	c.116 others(37): Show c.1162+578_1162+579insTTTTTTTTTTTTTTTTTTTT	SRF	ENSG00000112658.8	transcript	ENST00000265354.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
SRGAP1_chr12_63839700_64167217	63919499	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02896.hp2 HG02630.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0002t0045 a0001c0001t0010 a0001c0002t0045	a0001c0001t0010g0157 a0001c0002t0045g0082 a0001c0001t0010g0157 a0001c0002t0045g0082	2	170	0.0118	20	c.68- others(37): Show c.68-64444_68-64425dupTATATATATATATATATATA	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	63919527	T T	TATATATA others(13): Show TATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0150 a0001c0006t0150	a0001c0006t0150g0167 a0001c0006t0150g0167	1	170	0.0059	20	c.68- others(37): Show c.68-64419_68-64418insTATATATATATATATATACA	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	64039628	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA19084.hp1 NA18967.hp1 NA19084.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0032 a0001c0002t0025 a0001c0002t0032	a0001c0002t0025g0146 a0001c0002t0032g0147 a0001c0002t0025g0146 a0001c0002t0032g0147	2	170	0.0118	20	c.490 others(37): Show c.490-3149_490-3130dupGTGTGTGTGTGTGTGTGTGT	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(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18984.hp2 NA18979.hp1 NA18984.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0066 a0001c0002t0018 a0001c0002t0066	a0001c0002t0018g0068 a0001c0002t0066g0104 a0001c0002t0018g0068 a0001c0002t0066g0104	2	170	0.0118	20	c.801 others(37): Show c.801+1105_801+1124dupTTTTTTTTTTTTTTTTTTTT	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(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0079 a0001c0003t0001g0079	1	170	0.0059	20	c.112 others(39): Show c.1126-6790_1126-6771dupTGTGTGTGTGTGTGTGTGTG	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	8/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP2C_chr1_121179975_121397874	121285404	T T	TCTCTCTC others(13): Show TCTCTCTCACACACACACACA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0052 a0009c0008t0052	a0009c0008t0052g0273 a0009c0008t0052g0273	1	274	0.0037	20	c.260 others(35): Show c.260+410_260+411insTCTCTCACACACACACACAC	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121331144	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0226 a0001c0001t0006g0226	1	274	0.0037	20	c.423 others(37): Show c.423+6514_423+6533dupAAAAAAAAAAAAAAAAAAAA	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2_chr1_206198541_206469436	206353697	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01167.hp1 HG02055.hp1 others(26): Show HG00621.hp1 HG01167.hp1 HG02055.hp1 HG02109.hp2 HG02451.hp2 HG02572.hp1 HG02622.hp1 HG02630.hp1 HG02717.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03139.hp2 HG03225.hp1 HG03453.hp2 HG03486.hp2 HG03540.hp1 NA18947.hp1 NA18959.hp2 NA18980.hp1 NA18993.hp2 NA19081.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007	a0001c0001t0001 a0001c0001t0004 a0001c0002t0005 others(9): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0005 a0001c0003t0004 a0001c0003t0005 a0001c0003t0006 a0001c0003t0010 a0001c0003t0017 a0001c0003t0021 a0001c0003t0025 a0001c0003t0029 a0001c0007t0005	a0001c0001t0001g0053 a0001c0001t0001g0133 a0001c0001t0001g0145 others(26): Show a0001c0001t0001g0053 a0001c0001t0001g0133 a0001c0001t0001g0145 a0001c0001t0001g0167 a0001c0001t0004g0147 a0001c0001t0004g0149 a0001c0001t0004g0150 a0001c0002t0005g0064 a0001c0003t0004g0073 a0001c0003t0004g0074 a0001c0003t0004g0079 a0001c0003t0004g0135 a0001c0003t0004g0140 a0001c0003t0005g0132 a0001c0003t0005g0164 a0001c0003t0006g0172 a0001c0003t0006g0173 a0001c0003t0006g0175 a0001c0003t0006g0176 a0001c0003t0006g0177 a0001c0003t0010g0159 a0001c0003t0010g0160 a0001c0003t0017g0003 a0001c0003t0021g0129 a0001c0003t0025g0033 a0001c0003t0029g0171 a0001c0007t0005g0115 a0001c0007t0005g0138 a0001c0007t0005g0139	29	182	0.1593	20	c.423 others(39): Show c.423+10696_423+10715dupATAAATAAATAAATAAATAA	SRGAP2	ENSG00000266028.8	transcript	ENST00000573034.8	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP3_chr3_8975591_9254646	8988556	A A	AGTGCATT others(13): Show AGTGCATTCCAGGGGCAGGTC	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA21309.hp1 HG02145.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0049 a0001c0001t0002 a0001c0001t0049	a0001c0001t0002g0016 a0001c0001t0049g0084 a0001c0001t0002g0016 a0001c0001t0049g0084	2	228	0.0088	20	c.288 others(39): Show c.2886+1936_2886+1955dupGACCTGCCCCTGGAATGCAC	SRGAP3	ENSG00000196220.17	transcript	ENST00000383836.8	protein_coding	21/21			chr3	TogoVar
SRGAP3_chr3_8975591_9254646	9123732	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01069.hp2 NA20905.hp2 HG00438.hp1 HG01069.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0006 a0001c0001 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0005t0001 a0001c0006t0002 a0001c0001t0001 a0001c0005t0001 a0001c0006t0002	a0001c0001t0001g0028 a0001c0005t0001g0007 a0001c0006t0002g0029 a0001c0001t0001g0028 a0001c0005t0001g0007 a0001c0006t0002g0029	3	228	0.0132	20	c.260 others(35): Show c.260+973_260+992dupCACACACACACACACACACA	SRGAP3	ENSG00000196220.17	transcript	ENST00000383836.8	protein_coding	2/21			chr3	TogoVar
SRGAP3_chr3_8975591_9254646	9141551	G G	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0032 a0002c0010t0001g0032	1	228	0.0044	20	c.68- others(37): Show c.68-16635_68-16634insACACACACACACACACACAC	SRGAP3	ENSG00000196220.17	transcript	ENST00000383836.8	protein_coding	1/21			chr3	TogoVar
SRGAP3_chr3_8975591_9254646	9164276	T T	TTTTATTT others(13): Show TTTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp2 HG01069.hp2 others(22): Show HG00323.hp1 HG00423.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01169.hp2 HG01192.hp1 HG01255.hp2 HG01258.hp2 HG02738.hp1 HG03139.hp1 HG03239.hp2 HG03492.hp1 HG03492.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG04228.hp1 HG04228.hp2 NA18944.hp1 NA18950.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0006 a0005c0015 a0001c0001 a0001c0006 a0005c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0024 a0001c0001t0040 a0001c0006t0002 a0005c0015t0001	a0001c0001t0001g0027 a0001c0001t0001g0049 a0001c0001t0001g0059 others(22): Show a0001c0001t0001g0027 a0001c0001t0001g0049 a0001c0001t0001g0059 a0001c0001t0001g0105 a0001c0001t0001g0112 a0001c0001t0001g0118 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0142 a0001c0001t0001g0150 a0001c0001t0001g0173 a0001c0001t0001g0201 a0001c0001t0001g0214 a0001c0001t0001g0222 a0001c0001t0002g0187 a0001c0001t0003g0149 a0001c0001t0006g0114 a0001c0001t0008g0054 a0001c0001t0011g0200 a0001c0001t0013g0111 a0001c0001t0024g0216 a0001c0001t0024g0218 a0001c0001t0040g0023 a0001c0006t0002g0029 a0005c0015t0001g0193	25	228	0.1097	20	c.68- others(37): Show c.68-39379_68-39360dupTAAATAAATAAATAAATAAA	SRGAP3	ENSG00000196220.17	transcript	ENST00000383836.8	protein_coding	1/21			chr3	TogoVar
SRL_chr16_4184374_4247080	4204406	T T	TAGATACA others(13): Show TAGATACAGCCCCGGCCTCTA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01516.hp2 HG01361.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0028 a0001c0002t0005 a0001c0001t0028 a0001c0002t0005	a0001c0001t0028g0183 a0001c0002t0005g0160 a0001c0001t0028g0183 a0001c0002t0005g0160	2	358	0.0056	20	c.163 others(35): Show c.163+126_163+127insTAGAGGCCGGGGCTGTATCT	SRL	ENSG00000185739.13	transcript	ENST00000399609.7	protein_coding	2/5			chr16	TogoVar
SRL_chr16_4184374_4247080	4220278	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03654.hp1 HG02965.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0279 a0001c0001t0001g0184 a0001c0001t0001g0279	2	358	0.0056	20	c.62- others(37): Show c.62-15664_62-15645dupGTGTGTGTGTGTGTGTGTGT	SRL	ENSG00000185739.13	transcript	ENST00000399609.7	protein_coding	1/5			chr16	TogoVar
SRL_chr16_4184374_4247080	4222647	C C	CCCCAGGA others(13): Show CCCCAGGATGGTTGCAGGTGT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01192.hp2 HG01361.hp2 others(40): Show HG01099.hp1 HG01192.hp2 HG01361.hp2 HG01884.hp1 HG01891.hp1 HG02055.hp1 HG02055.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02300.hp2 HG02572.hp1 HG02572.hp2 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03195.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18968.hp2 NA19030.hp1 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(14): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0028 a0001c0001t0033 a0001c0001t0035 a0001c0002t0003 a0001c0002t0005 a0001c0002t0041 a0001c0002t0043 a0001c0003t0009 a0001c0007t0030	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0062 others(40): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0075 a0001c0001t0001g0085 a0001c0001t0001g0184 a0001c0001t0001g0204 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0310 a0001c0001t0001g0324 a0001c0001t0004g0047 a0001c0001t0004g0269 a0001c0001t0006g0017 a0001c0001t0006g0045 a0001c0001t0007g0013 a0001c0001t0007g0021 a0001c0001t0008g0018 a0001c0001t0008g0020 a0001c0001t0008g0022 a0001c0001t0008g0023 a0001c0001t0008g0079 a0001c0001t0008g0268 a0001c0001t0010g0056 a0001c0001t0010g0078 a0001c0001t0011g0042 a0001c0001t0012g0061 a0001c0001t0012g0065 a0001c0001t0012g0077 a0001c0001t0028g0183 a0001c0001t0033g0129 a0001c0001t0035g0019 a0001c0002t0003g0246 a0001c0002t0005g0345 a0001c0002t0041g0210 a0001c0002t0043g0333 a0001c0003t0009g0069 a0001c0003t0009g0070 a0001c0003t0009g0071 a0001c0007t0030g0007	43	358	0.1201	20	c.62- others(37): Show c.62-18014_62-18013insACACCTGCAACCATCCTGGG	SRL	ENSG00000185739.13	transcript	ENST00000399609.7	protein_coding	1/5			chr16	TogoVar
SRL_chr16_4184374_4247080	4227051	A A	AATGGATG others(13): Show AATGGATGGATGGATGGATGG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0043 a0001c0001t0007g0043	1	358	0.0028	20	c.61+ others(37): Show c.61+14936_61+14955dupCCATCCATCCATCCATCCAT	SRL	ENSG00000185739.13	transcript	ENST00000399609.7	protein_coding	1/5			chr16	TogoVar
SRP14_chr15_40030690_40044181	40037279	G G	GAAAAAAA others(13): Show GAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0050 a0001c0002t0001g0050	1	426	0.0024	20	c.211 others(35): Show c.211-262_211-261insTTTTTTTTTTTTTTTTTTTT	SRP14	ENSG00000140319.11	transcript	ENST00000267884.11	protein_coding	3/4			chr15	TogoVar
SRP54_chr14_34977992_35034567	35014290	T T	TTTTTTTT others(13): Show TTTTTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00621.hp1 HG00621.hp2 others(26): Show HG00423.hp1 HG00621.hp1 HG00621.hp2 HG01358.hp2 HG01952.hp1 HG01952.hp2 HG02148.hp2 HG02486.hp2 HG02818.hp2 HG03098.hp2 HG03490.hp1 HG03927.hp2 HG04184.hp2 NA18941.hp1 NA18962.hp1 NA18968.hp2 NA18973.hp2 NA18985.hp2 NA18991.hp2 NA18992.hp1 NA19000.hp1 NA19001.hp2 NA19004.hp2 NA19007.hp1 NA19012.hp2 NA19057.hp1 NA19062.hp1 NA19066.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0284 others(24): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0284 a0001c0001t0002g0286 a0001c0001t0002g0296 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0305 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0310 a0001c0001t0002g0334 a0001c0001t0002g0339 a0001c0001t0002g0341 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0002g0348 a0001c0001t0002g0350 a0001c0001t0002g0354 a0001c0001t0002g0357 a0001c0001t0002g0364 a0001c0001t0002g0370 a0001c0001t0002g0371 a0001c0001t0002g0375 a0001c0001t0002g0379 a0001c0001t0002g0383	29	396	0.0732	20	c.886 others(35): Show c.886+392_886+393insTTTTTTTTTTTTTTTGTTTT	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP68_chr17_76033785_76077517	76070850	G G	GCACACAC others(13): Show GCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0152	1	365	0.0027	20	c.185 others(35): Show c.185-426_185-407dupTGTGTGTGTGTGTGTGTGTG	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	1/15			chr17	TogoVar
SRP72_chr4_56462617_56508681	56484026	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0189 a0001c0004t0003g0189	1	388	0.0026	20	c.958 others(35): Show c.958-704_958-685dupTTTTTTTTTTTTTTTTTTTT	SRP72	ENSG00000174780.17	transcript	ENST00000642900.1	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
SRPK1_chr6_35827966_35926098	35832248	A A	ATATTTAT others(13): Show ATATTTATTTATTTATTTATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG02615.hp1 NA18973.hp2 others(1): Show HG00741.hp1 HG02615.hp1 NA18973.hp2 NA18978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0008 a0001c0002t0002 a0001c0002t0008	a0001c0002t0002g0247 a0001c0002t0002g0272 a0001c0002t0002g0313 others(1): Show a0001c0002t0002g0247 a0001c0002t0002g0272 a0001c0002t0002g0313 a0001c0002t0008g0248	4	342	0.0117	20	c.30 others(31): Show c.3036_*3055dupAATAAATAAATAAATAAATA	SRPK1	ENSG00000096063.16	transcript	ENST00000373825.7	protein_coding		717		chr6	TogoVar
SRPK1_chr6_35827966_35926098	35880742	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01069.hp2 HG01081.hp2 others(14): Show HG00639.hp1 HG01069.hp2 HG01081.hp2 HG02074.hp2 HG02132.hp1 HG02698.hp2 HG03688.hp1 HG03831.hp1 HG06807.hp1 NA18906.hp2 NA18946.hp2 NA18959.hp2 NA18975.hp2 NA18981.hp2 NA18986.hp2 NA18989.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 others(14): Show a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034	17	342	0.0497	20	c.478 others(37): Show c.478+5981_478+5982insCTTTCTTTCTTTTTTTTTTT	SRPK1	ENSG00000096063.16	transcript	ENST00000373825.7	protein_coding	6/15			chr6	TogoVar
SRPK2_chr7_105111374_105393921	105159448	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01952.hp1 HG04184.hp1 HG01168.hp1 HG01952.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0229 a0001c0001t0002g0239 a0001c0001t0002g0262 a0001c0001t0001g0229 a0001c0001t0002g0239 a0001c0001t0002g0262	3	282	0.0106	20	c.621 others(37): Show c.621+1039_621+1058dupTTTTTTTTTTTTTTTTTTTT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	7/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105168745	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01168.hp1 HG01243.hp1 others(12): Show HG00642.hp1 HG01168.hp1 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01346.hp2 HG01884.hp2 HG02683.hp1 HG02886.hp1 HG03098.hp1 HG03098.hp2 HG04204.hp1 NA18981.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0001 a0001c0001t0002 a0001c0001t0011	a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 others(12): Show a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0259 a0001c0001t0001g0267 a0001c0001t0001g0281 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0233 a0001c0001t0002g0240 a0001c0001t0002g0262 a0001c0001t0002g0277 a0001c0001t0011g0273	15	282	0.0532	20	c.338 others(35): Show c.338+392_338+411dupCACACACACACACACACACA	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	4/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105170745	G G	GAGGAAGG others(13): Show GAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00639.hp1 others(23): Show HG00099.hp1 HG00280.hp2 HG00639.hp1 HG01074.hp1 HG01081.hp1 HG01106.hp2 HG01255.hp1 HG02015.hp2 HG02083.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp2 HG02630.hp2 HG02717.hp2 HG02886.hp2 HG02965.hp1 HG03225.hp2 HG03654.hp1 NA18949.hp2 NA18954.hp1 NA18985.hp1 NA18999.hp1 NA19010.hp1 NA19078.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0002t0003	a0001c0001t0001g0113 a0001c0001t0001g0127 a0001c0001t0001g0131 others(23): Show a0001c0001t0001g0113 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0189 a0001c0001t0001g0196 a0001c0001t0001g0201 a0001c0001t0001g0207 a0001c0001t0005g0115 a0001c0001t0009g0154 a0001c0002t0003g0035 a0001c0002t0003g0042	26	282	0.0922	20	c.230 others(37): Show c.230-1500_230-1481dupTCCTTCCTTCCTTCCTTCCT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	3/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105170836	G G	GAAGAAAG others(13): Show GAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	282	0.0036	20	c.230 others(37): Show c.230-1591_230-1572dupTCTTTCTTTCTTTCTTTCTT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	3/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105233091	A A	AGAAGGAA others(13): Show AGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	282	0.0036	20	c.72- others(37): Show c.72-29326_72-29307dupCTTCCTTCCTTCCTTCCTTC	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
SRPX2_chrX_100639199_100680788	100657349	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0136 a0001c0001t0010g0136	1	318	0.0031	20	c.164 others(37): Show c.164-4808_164-4807insTTTTTTTTTTTTTTTTTTTT	SRPX2	ENSG00000102359.9	transcript	ENST00000373004.5	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar

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