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(1): Show CATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03041.hp2 HG03130.hp2 others(1): Show HG02486.hp1 HG03041.hp2 HG03130.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0005 a0001c0002t0054 a0001c0003t0001 a0001c0002t0005 a0001c0002t0054 a0001c0003t0001	a0001c0002t0005g0158 a0001c0002t0054g0084 a0001c0003t0001g0035 others(1): Show a0001c0002t0005g0158 a0001c0002t0054g0084 a0001c0003t0001g0035 a0001c0003t0001g0036	4	170	0.0235	8	c.68- others(25): Show c.68-64432_68-64425dupTATATATA	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(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02965.hp1 HG02630.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0045 a0001c0002t0008 a0001c0002t0045	a0001c0002t0008g0096 a0001c0002t0045g0082 a0001c0002t0008g0096 a0001c0002t0045g0082	2	170	0.0118	8	c.426 others(25): Show c.426+2637_426+2644dupACACACAC	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	64000239	G G	GGTGTGTG others(1): Show GGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00639.hp1 others(13): Show HG00099.hp1 HG00408.hp2 HG00639.hp1 HG01261.hp2 HG02055.hp1 HG02145.hp1 HG02145.hp2 HG02451.hp1 HG02717.hp1 HG02809.hp2 HG02922.hp1 HG03041.hp2 HG03098.hp2 NA18906.hp2 NA18968.hp2 NA19030.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0003c0005	a0001c0001t0003 a0001c0001t0011 a0001c0001t0125 others(13): Show a0001c0001t0003 a0001c0001t0011 a0001c0001t0125 a0001c0001t0140 a0001c0001t0144 a0001c0001t0145 a0001c0002t0002 a0001c0002t0012 a0001c0002t0016 a0001c0002t0038 a0001c0002t0042 a0001c0002t0049 a0001c0002t0053 a0001c0002t0054 a0001c0006t0085 a0003c0005t0135	a0001c0001t0003g0098 a0001c0001t0011g0149 a0001c0001t0125g0139 others(13): Show a0001c0001t0003g0098 a0001c0001t0011g0149 a0001c0001t0125g0139 a0001c0001t0140g0092 a0001c0001t0144g0004 a0001c0001t0145g0005 a0001c0002t0002g0008 a0001c0002t0012g0145 a0001c0002t0016g0089 a0001c0002t0038g0091 a0001c0002t0042g0153 a0001c0002t0049g0110 a0001c0002t0053g0093 a0001c0002t0054g0084 a0001c0006t0085g0015 a0003c0005t0135g0162	16	170	0.0941	8	c.426 others(27): Show c.426+10196_426+10203dupGTGTGTGT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	64039628	C C	CGTGTGTG others(1): Show CGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG03831.hp1 NA18946.hp1 others(2): Show HG02056.hp1 HG03831.hp1 NA18946.hp1 NA18968.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0112 a0001c0002t0035 a0001c0002t0041 others(2): Show a0001c0001t0112 a0001c0002t0035 a0001c0002t0041 a0001c0002t0063 a0001c0002t0066	a0001c0001t0112g0138 a0001c0002t0035g0029 a0001c0002t0041g0034 others(2): Show a0001c0001t0112g0138 a0001c0002t0035g0029 a0001c0002t0041g0034 a0001c0002t0063g0060 a0001c0002t0066g0104	5	170	0.0294	8	c.490 others(25): Show c.490-3137_490-3130dupGTGTGTGT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	64072106	C C	CTGTGTGT others(1): Show CTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA18522.hp2 HG03098.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0141 a0001c0001t0143 a0001c0001t0141 a0001c0001t0143	a0001c0001t0141g0012 a0001c0001t0143g0007 a0001c0001t0141g0012 a0001c0001t0143g0007	2	170	0.0118	8	c.112 others(27): Show c.1126-6812_1126-6811insGTGTGTGT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	8/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	64072108	C C	CTCTGTGT others(1): Show CTCTGTGTG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03516.hp2 HG02809.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0140 a0001c0001t0146 a0001c0001t0140 a0001c0001t0146	a0001c0001t0140g0092 a0001c0001t0146g0013 a0001c0001t0140g0092 a0001c0001t0146g0013	2	170	0.0118	8	c.112 others(27): Show c.1126-6810_1126-6809insCTGTGTGT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	8/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	64072108	C C	CTGTGTGT others(1): Show CTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG01069.hp1 others(16): Show HG00099.hp1 HG00099.hp2 HG01069.hp1 HG01069.hp2 HG01517.hp1 HG01978.hp1 HG02300.hp1 HG02559.hp1 HG02698.hp2 HG02818.hp1 HG02965.hp1 HG03041.hp1 HG03486.hp1 HG03540.hp2 HG03927.hp1 NA18951.hp1 NA18984.hp2 NA19060.hp2 NA20805.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0011 others(1): Show a0001c0001 a0001c0002 a0001c0011 a0004c0012	a0001c0001t0079 a0001c0001t0086 a0001c0001t0108 others(15): Show a0001c0001t0079 a0001c0001t0086 a0001c0001t0108 a0001c0001t0123 a0001c0001t0126 a0001c0001t0128 a0001c0002t0003 a0001c0002t0004 a0001c0002t0008 a0001c0002t0013 a0001c0002t0014 a0001c0002t0018 a0001c0002t0034 a0001c0002t0042 a0001c0002t0046 a0001c0002t0048 a0001c0011t0015 a0004c0012t0017	a0001c0001t0079g0057 a0001c0001t0086g0102 a0001c0001t0108g0001 others(16): Show a0001c0001t0079g0057 a0001c0001t0086g0102 a0001c0001t0108g0001 a0001c0001t0123g0073 a0001c0001t0126g0050 a0001c0001t0128g0031 a0001c0002t0003g0070 a0001c0002t0004g0056 a0001c0002t0008g0095 a0001c0002t0008g0096 a0001c0002t0013g0087 a0001c0002t0014g0129 a0001c0002t0018g0068 a0001c0002t0034g0002 a0001c0002t0042g0153 a0001c0002t0046g0048 a0001c0002t0048g0120 a0001c0011t0015g0083 a0004c0012t0017g0113	19	170	0.1118	8	c.112 others(27): Show c.1126-6778_1126-6771dupTGTGTGTG	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	8/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	64101308	G G	GGTGTGTG others(1): Show GGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02257.hp2 HG02683.hp1 others(4): Show HG01109.hp1 HG02257.hp2 HG02683.hp1 NA18968.hp2 NA18984.hp1 NA19057.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0003 a0001c0001t0068 a0001c0001t0073 others(4): Show a0001c0001t0003 a0001c0001t0068 a0001c0001t0073 a0001c0001t0098 a0001c0001t0101 a0001c0001t0104 a0001c0007t0133	a0001c0001t0003g0098 a0001c0001t0068g0075 a0001c0001t0073g0117 others(4): Show a0001c0001t0003g0098 a0001c0001t0068g0075 a0001c0001t0073g0117 a0001c0001t0098g0130 a0001c0001t0101g0123 a0001c0001t0104g0051 a0001c0007t0133g0103	7	170	0.0412	8	c.181 others(27): Show c.1813+3969_1813+3976dupTGTGTGTG	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	64118710	C C	CTTATTTA others(1): Show CTTATTTAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02886.hp1 HG02922.hp2 others(6): Show HG02647.hp2 HG02886.hp1 HG02922.hp2 HG02965.hp2 HG03098.hp1 HG03688.hp1 NA18522.hp2 NA18906.hp2 NA19240.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0010 a0002c0004 others(1): Show a0001c0001 a0001c0010 a0002c0004 a0003c0005	a0001c0001t0129 a0001c0001t0134 a0001c0001t0141 others(6): Show a0001c0001t0129 a0001c0001t0134 a0001c0001t0141 a0001c0001t0142 a0001c0001t0143 a0001c0010t0019 a0002c0004t0009 a0003c0005t0135 a0003c0005t0137	a0001c0001t0129g0133 a0001c0001t0134g0119 a0001c0001t0141g0012 others(6): Show a0001c0001t0129g0133 a0001c0001t0134g0119 a0001c0001t0141g0012 a0001c0001t0142g0003 a0001c0001t0143g0007 a0001c0010t0019g0168 a0002c0004t0009g0053 a0003c0005t0135g0162 a0003c0005t0137g0038	9	170	0.0529	8	c.222 others(27): Show c.2224+2841_2224+2848dupTTTATTTA	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(1): Show CAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03017.hp1 HG03017.hp2 HG03516.hp1 others(3): Show HG03017.hp1 HG03017.hp2 HG03516.hp1 HG03688.hp1 HG04184.hp2 NA18988.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0009 a0001c0001t0093 a0001c0001t0121 others(3): Show a0001c0001t0009 a0001c0001t0093 a0001c0001t0121 a0002c0004t0009 a0002c0004t0091 a0002c0004t0151	a0001c0001t0009g0143 a0001c0001t0093g0033 a0001c0001t0121g0108 others(3): Show a0001c0001t0009g0143 a0001c0001t0093g0033 a0001c0001t0121g0108 a0002c0004t0009g0053 a0002c0004t0091g0032 a0002c0004t0151g0122	6	170	0.0353	8	c.82 others(19): Show c.8281_*8288dupAAAAAAAA	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	22/22	8289	INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP2B_chr1_144882288_145100328	144925727	A A	AAAAGAAA others(1): Show AAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01175.hp2 HG01978.hp2 others(10): Show HG00280.hp1 HG01175.hp2 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02071.hp2 HG02129.hp1 HG02129.hp2 HG02602.hp1 HG03490.hp2 HG03492.hp1 NA18941.hp1 NA18941.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0002c0002t0001 a0002c0002t0011 a0003c0003t0004 a0004c0005t0006	a0001c0001t0001g0006 a0001c0001t0001g0024 a0001c0001t0001g0041 others(10): Show a0001c0001t0001g0006 a0001c0001t0001g0024 a0001c0001t0001g0041 a0001c0001t0001g0050 a0001c0001t0002g0004 a0001c0001t0002g0017 a0001c0001t0002g0035 a0001c0001t0007g0011 a0002c0002t0001g0042 a0002c0002t0011g0028 a0003c0003t0004g0054 a0003c0003t0004g0055 a0004c0005t0006g0053	13	56	0.2321	8	c.424 others(27): Show c.424-10981_424-10974dupCTTTCTTT	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding	4/9			chr1	TogoVar
SRGAP2B_chr1_144882288_145100328	145041075	G G	GTATATAT others(1): Show GTATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02135.hp1 HG00735.hp2 HG02135.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0001 a0005c0008t0005 a0001c0001t0001 a0005c0008t0005	a0001c0001t0001g0044 a0005c0008t0005g0039 a0001c0001t0001g0044 a0005c0008t0005g0039	2	56	0.0357	8	c.68- others(25): Show c.68-45883_68-45876dupTATATATA	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding	2/9			chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121189096	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03209.hp1 HG03579.hp2 others(2): Show HG02615.hp2 HG03209.hp1 HG03579.hp2 HG06807.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0047 a0001c0001t0048 a0001c0001t0001 a0001c0001t0047 a0001c0001t0048	a0001c0001t0001g0180 a0001c0001t0001g0213 a0001c0001t0001g0250 others(2): Show a0001c0001t0001g0180 a0001c0001t0001g0213 a0001c0001t0001g0250 a0001c0001t0047g0181 a0001c0001t0048g0214	5	274	0.0183	8	c.67+ others(23): Show c.67+1603_67+1610dupTTTTTTTT	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121211458	C C	CACACACA others(1): Show CACACACAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01361.hp1 HG02559.hp1 others(5): Show HG00280.hp1 HG01361.hp1 HG02559.hp1 HG02698.hp2 HG02738.hp2 HG02896.hp1 HG03130.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0014 a0001c0001t0001 a0001c0001t0006 a0001c0001t0014	a0001c0001t0001g0114 a0001c0001t0001g0184 a0001c0001t0001g0187 others(5): Show a0001c0001t0001g0114 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0195 a0001c0001t0001g0223 a0001c0001t0006g0137 a0001c0001t0014g0220	8	274	0.0292	8	c.67+ others(25): Show c.67+23948_67+23949insCACATACA	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121223351	T T	TTGTGTGT others(1): Show TTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02135.hp1 HG02165.hp1 others(7): Show HG02071.hp1 HG02135.hp1 HG02165.hp1 NA18941.hp2 NA18954.hp2 NA18957.hp1 NA18964.hp2 NA18966.hp2 NA19005.hp2 NA19085.hp2	a0002 a0007 a0002 a0007	a0002c0002 a0007c0010 a0002c0002 a0007c0010	a0002c0002t0002 a0002c0002t0003 a0002c0002t0021 others(1): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0021 a0007c0010t0003	a0002c0002t0002g0005 a0002c0002t0002g0059 a0002c0002t0003g0069 others(7): Show a0002c0002t0002g0005 a0002c0002t0002g0059 a0002c0002t0003g0069 a0002c0002t0003g0070 a0002c0002t0003g0072 a0002c0002t0003g0076 a0002c0002t0003g0077 a0002c0002t0003g0078 a0002c0002t0021g0053 a0007c0010t0003g0066	10	274	0.0365	8	c.67+ others(25): Show c.67+35876_67+35883dupGTGTGTGT	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121239281	A A	ATATACTA others(1): Show ATATACTAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03041.hp2 HG06807.hp2 HG02451.hp1 HG03041.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0096 a0002c0002t0002g0099 a0002c0002t0002g0101 a0002c0002t0002g0096 a0002c0002t0002g0099 a0002c0002t0002g0101	3	274	0.0110	8	c.68- others(25): Show c.68-45522_68-45521insTATACTAT	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	2/9			chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121249546	C C	CTATATAT others(1): Show CTATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01243.hp1 HG02165.hp2 others(12): Show HG00408.hp2 HG01243.hp1 HG02165.hp2 HG02300.hp1 HG02698.hp2 HG03209.hp1 NA18612.hp1 NA18941.hp2 NA18949.hp1 NA18957.hp1 NA18966.hp2 NA18970.hp2 NA19010.hp2 NA19077.hp1 NA21309.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0009 a0002c0002 others(1): Show a0001c0001 a0001c0009 a0002c0002 a0007c0010	a0001c0001t0001 a0001c0001t0048 a0001c0001t0050 others(3): Show a0001c0001t0001 a0001c0001t0048 a0001c0001t0050 a0001c0009t0001 a0002c0002t0003 a0007c0010t0003	a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0133 others(12): Show a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0133 a0001c0001t0001g0156 a0001c0001t0001g0176 a0001c0001t0001g0184 a0001c0001t0001g0191 a0001c0001t0001g0242 a0001c0001t0048g0214 a0001c0001t0050g0172 a0001c0009t0001g0122 a0002c0002t0003g0070 a0002c0002t0003g0077 a0002c0002t0003g0092 a0007c0010t0003g0066	15	274	0.0547	8	c.68- others(25): Show c.68-35229_68-35222dupATATATAT	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121285402	T T	TCACACAC others(1): Show TCACACACA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02970.hp2 NA18970.hp1 others(1): Show HG02615.hp1 HG02970.hp2 NA18970.hp1 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0040 a0001c0001t0045 a0001c0001t0001 a0001c0001t0040 a0001c0001t0045	a0001c0001t0001g0148 a0001c0001t0001g0191 a0001c0001t0040g0186 others(1): Show a0001c0001t0001g0148 a0001c0001t0001g0191 a0001c0001t0040g0186 a0001c0001t0045g0217	4	274	0.0146	8	c.260 others(23): Show c.260+408_260+409insACACACAC	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(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02165.hp2 HG02818.hp1 others(8): Show HG00408.hp2 HG02165.hp2 HG02818.hp1 HG03516.hp1 NA18522.hp1 NA18957.hp2 NA18994.hp2 NA19004.hp2 NA19070.hp1 NA19085.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0001t0008 a0001c0001t0049 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0049 a0001c0009t0001	a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 others(8): Show a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0115 a0001c0001t0001g0131 a0001c0001t0001g0136 a0001c0001t0001g0146 a0001c0001t0008g0230 a0001c0001t0008g0251 a0001c0001t0049g0145 a0001c0009t0001g0122	11	274	0.0402	8	c.423 others(25): Show c.423+6526_423+6533dupAAAAAAAA	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(1): Show TTTTGTTTG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02055.hp2 HG02630.hp1 others(3): Show HG01109.hp2 HG02055.hp2 HG02630.hp1 HG02723.hp2 HG03579.hp1 NA21309.hp1	a0002 a0003 a0009 a0002 a0003 a0009	a0002c0002 a0003c0004 a0009c0008 a0002c0002 a0003c0004 a0009c0008	a0002c0002t0028 a0002c0002t0030 a0003c0004t0018 others(2): Show a0002c0002t0028 a0002c0002t0030 a0003c0004t0018 a0003c0004t0022 a0009c0008t0052	a0002c0002t0028g0023 a0002c0002t0030g0030 a0003c0004t0018g0001 others(3): Show a0002c0002t0028g0023 a0002c0002t0030g0030 a0003c0004t0018g0001 a0003c0004t0018g0002 a0003c0004t0022g0027 a0009c0008t0052g0273	6	274	0.0219	8	c.423 others(25): Show c.423+9832_423+9839dupGTTTGTTT	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121337634	A A	AAAATAAA others(1): Show AAAATAAAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00733.hp1 HG02109.hp1 others(3): Show HG00280.hp1 HG00733.hp1 HG02109.hp1 HG02145.hp2 HG02451.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0054 a0001c0001t0001 a0001c0005t0054	a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 others(3): Show a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0130 a0001c0001t0001g0161 a0001c0005t0054g0270	6	274	0.0219	8	c.423 others(27): Show c.423+13014_423+13021dupTAAATAAA	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121351610	A A	AAAATAAA others(1): Show AAAATAAAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00639.hp1 others(19): Show HG00280.hp2 HG00323.hp2 HG00639.hp1 HG01109.hp1 HG01175.hp2 HG01243.hp2 HG01517.hp1 HG02004.hp2 HG02615.hp2 HG02717.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03490.hp2 HG03540.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0006 a0001c0001t0044 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0044 a0001c0001t0046 a0001c0001t0051 a0001c0003t0053	a0001c0001t0001g0120 a0001c0001t0001g0125 a0001c0001t0001g0128 others(19): Show a0001c0001t0001g0120 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0189 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0234 a0001c0001t0001g0274 a0001c0001t0006g0137 a0001c0001t0006g0193 a0001c0001t0006g0194 a0001c0001t0006g0226 a0001c0001t0044g0119 a0001c0001t0046g0121 a0001c0001t0051g0153 a0001c0003t0053g0264	22	274	0.0803	8	c.424 others(27): Show c.424-13648_424-13641dupATAAATAA	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121354261	C C	CCTTTCTT others(1): Show CCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG03225.hp1 NA19077.hp1 HG02080.hp2 HG03225.hp1 NA19077.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0005 a0002c0002t0003 a0002c0002t0005	a0002c0002t0003g0057 a0002c0002t0003g0092 a0002c0002t0005g0006 a0002c0002t0003g0057 a0002c0002t0003g0092 a0002c0002t0005g0006	3	274	0.0110	8	c.424 others(27): Show c.424-10971_424-10964dupCTTTCTTT	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2_chr1_206198541_206469436	206229931	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01884.hp2 HG02055.hp1 others(8): Show HG01192.hp1 HG01884.hp2 HG02055.hp1 HG02109.hp2 HG02451.hp2 HG02572.hp1 HG02965.hp1 HG03139.hp2 NA18975.hp1 NA18993.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0002 a0001c0003t0004 others(3): Show a0001c0001t0001 a0001c0002t0002 a0001c0003t0004 a0001c0003t0005 a0001c0003t0017 a0001c0003t0028	a0001c0001t0001g0002 a0001c0001t0001g0181 a0001c0002t0002g0032 others(8): Show a0001c0001t0001g0002 a0001c0001t0001g0181 a0001c0002t0002g0032 a0001c0003t0004g0073 a0001c0003t0004g0074 a0001c0003t0004g0079 a0001c0003t0004g0118 a0001c0003t0004g0140 a0001c0003t0005g0164 a0001c0003t0017g0003 a0001c0003t0028g0077	11	182	0.0604	8	c.67+ others(25): Show c.67+23923_67+23930dupACACACAC	SRGAP2	ENSG00000266028.8	transcript	ENST00000573034.8	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2_chr1_206198541_206469436	206254179	G G	GTTTTTTT others(1): Show GTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01192.hp1 HG01934.hp2 others(13): Show HG00609.hp2 HG01192.hp1 HG01934.hp2 HG02004.hp2 HG02630.hp2 HG02922.hp1 HG02970.hp1 HG03041.hp1 NA18947.hp1 NA18959.hp2 NA18977.hp2 NA18980.hp1 NA18993.hp2 NA19081.hp1 NA19081.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007	a0001c0001t0001 a0001c0001t0038 a0001c0002t0002 others(5): Show a0001c0001t0001 a0001c0001t0038 a0001c0002t0002 a0001c0002t0014 a0001c0003t0006 a0001c0004t0003 a0001c0006t0009 a0001c0007t0005	a0001c0001t0001g0002 a0001c0001t0038g0180 a0001c0002t0002g0015 others(13): Show a0001c0001t0001g0002 a0001c0001t0038g0180 a0001c0002t0002g0015 a0001c0002t0002g0021 a0001c0002t0014g0041 a0001c0003t0006g0172 a0001c0003t0006g0173 a0001c0003t0006g0174 a0001c0003t0006g0175 a0001c0003t0006g0176 a0001c0003t0006g0177 a0001c0004t0003g0058 a0001c0006t0009g0001 a0001c0007t0005g0115 a0001c0007t0005g0138 a0001c0007t0005g0139	16	182	0.0879	8	c.67+ others(25): Show c.67+48152_67+48159dupTTTTTTTT	SRGAP2	ENSG00000266028.8	transcript	ENST00000573034.8	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2_chr1_206198541_206469436	206257734	C C	CTATATAT others(1): Show CTATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03195.hp1 NA18980.hp2 HG03139.hp1 HG03195.hp1 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0003 a0001c0001t0001 a0001c0004t0003	a0001c0001t0001g0036 a0001c0004t0003g0043 a0001c0004t0003g0066 a0001c0001t0001g0036 a0001c0004t0003g0043 a0001c0004t0003g0066	3	182	0.0165	8	c.68- others(25): Show c.68-45544_68-45537dupTATATATA	SRGAP2	ENSG00000266028.8	transcript	ENST00000573034.8	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2_chr1_206198541_206469436	206279581	A A	ATTTTTTT others(1): Show ATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02622.hp2 NA18954.hp1 others(2): Show HG02135.hp2 HG02622.hp2 NA18954.hp1 NA19012.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0036 a0001c0002t0002 a0001c0003t0014 others(2): Show a0001c0001t0036 a0001c0002t0002 a0001c0003t0014 a0001c0003t0026 a0001c0003t0035	a0001c0001t0036g0123 a0001c0002t0002g0026 a0001c0003t0014g0168 others(2): Show a0001c0001t0036g0123 a0001c0002t0002g0026 a0001c0003t0014g0168 a0001c0003t0026g0143 a0001c0003t0035g0122	5	182	0.0275	8	c.68- others(25): Show c.68-23689_68-23682dupTTTTTTTT	SRGAP2	ENSG00000266028.8	transcript	ENST00000573034.8	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2_chr1_206198541_206469436	206391645	A A	ACACACAC others(1): Show ACACACACG	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA21309.hp1 HG03041.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0005 a0001c0007t0005 a0001c0002t0005 a0001c0007t0005	a0001c0002t0005g0064 a0001c0007t0005g0138 a0001c0002t0005g0064 a0001c0007t0005g0138	2	182	0.0110	8	c.487 others(25): Show c.487-1037_487-1036insGCACACAC	SRGAP2	ENSG00000266028.8	transcript	ENST00000573034.8	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2_chr1_206198541_206469436	206418888	C C	CTCTGTGT others(1): Show CTCTGTGTG	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG03710.hp1 NA19064.hp2 HG01257.hp1 HG03710.hp1 NA19064.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0004t0003 a0001c0002t0002 a0001c0004t0003	a0001c0002t0002g0027 a0001c0004t0003g0048 a0001c0004t0003g0080 a0001c0002t0002g0027 a0001c0004t0003g0048 a0001c0004t0003g0080	3	182	0.0165	8	c.144 others(25): Show c.1442-484_1442-483insCTGTGTGT	SRGAP2	ENSG00000266028.8	transcript	ENST00000573034.8	protein_coding	11/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP3_chr3_8975591_9254646	9003479	A A	AAAACAAA others(1): Show AAAACAAAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(122): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00639.hp2 HG00673.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01934.hp1 HG01934.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02040.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02165.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02886.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp2 NA18944.hp1 NA18950.hp1 NA18957.hp1 NA18957.hp2 NA18962.hp2 NA18971.hp2 NA18975.hp1 NA18979.hp2 NA18983.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18998.hp1 NA19005.hp1 NA19007.hp1 NA19030.hp2 NA19063.hp1 NA19067.hp1 NA19067.hp2 NA19087.hp1 NA19090.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0001c0002 a0001c0003 others(13): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0011 a0001c0012 a0001c0013 a0001c0021 a0002c0010 a0002c0014 a0005c0015 a0006c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(48): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0019 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0028 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0039 a0001c0001t0040 a0001c0001t0043 a0001c0001t0046 a0001c0001t0047 a0001c0001t0049 a0001c0001t0050 a0001c0002t0004 a0001c0002t0007 a0001c0002t0010 a0001c0003t0014 a0001c0003t0018 a0001c0004t0002 a0001c0004t0009 a0001c0004t0011 a0001c0004t0038 a0001c0005t0001 a0001c0006t0006 a0001c0007t0026 a0001c0009t0012 a0001c0011t0022 a0001c0012t0001 a0001c0013t0001 a0001c0021t0012 a0002c0010t0001 a0002c0014t0029 a0005c0015t0001 a0006c0018t0019	a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 others(122): Show a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0072 a0001c0001t0001g0085 a0001c0001t0001g0090 a0001c0001t0001g0095 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0210 a0001c0001t0001g0214 a0001c0001t0001g0222 a0001c0001t0002g0009 a0001c0001t0002g0115 a0001c0001t0002g0130 a0001c0001t0002g0158 a0001c0001t0002g0169 a0001c0001t0003g0019 a0001c0001t0003g0113 a0001c0001t0003g0152 a0001c0001t0004g0073 a0001c0001t0004g0077 a0001c0001t0005g0135 a0001c0001t0006g0030 a0001c0001t0006g0108 a0001c0001t0006g0114 a0001c0001t0006g0131 a0001c0001t0006g0209 a0001c0001t0007g0035 a0001c0001t0007g0082 a0001c0001t0008g0086 a0001c0001t0008g0191 a0001c0001t0009g0087 a0001c0001t0009g0178 a0001c0001t0011g0100 a0001c0001t0011g0200 a0001c0001t0013g0022 a0001c0001t0013g0111 a0001c0001t0013g0211 a0001c0001t0014g0177 a0001c0001t0019g0124 a0001c0001t0021g0129 a0001c0001t0021g0189 a0001c0001t0024g0216 a0001c0001t0024g0218 a0001c0001t0025g0040 a0001c0001t0028g0213 a0001c0001t0030g0220 a0001c0001t0032g0055 a0001c0001t0033g0050 a0001c0001t0034g0065 a0001c0001t0036g0204 a0001c0001t0037g0217 a0001c0001t0039g0196 a0001c0001t0040g0023 a0001c0001t0043g0101 a0001c0001t0046g0223 a0001c0001t0047g0107 a0001c0001t0049g0084 a0001c0001t0050g0093 a0001c0002t0004g0037 a0001c0002t0004g0092 a0001c0002t0007g0075 a0001c0002t0010g0001 a0001c0002t0010g0002 a0001c0002t0010g0003 a0001c0003t0014g0136 a0001c0003t0018g0039 a0001c0003t0018g0079 a0001c0004t0002g0070 a0001c0004t0009g0103 a0001c0004t0011g0226 a0001c0004t0038g0091 a0001c0005t0001g0007 a0001c0006t0006g0151 a0001c0007t0026g0005 a0001c0009t0012g0034 a0001c0011t0022g0010 a0001c0011t0022g0181 a0001c0012t0001g0168 a0001c0013t0001g0057 a0001c0021t0012g0014 a0002c0010t0001g0032 a0002c0014t0029g0038 a0005c0015t0001g0193 a0006c0018t0019g0060	125	228	0.5483	8	c.222 others(27): Show c.2227+6821_2227+6828dupGTTTGTTT	SRGAP3	ENSG00000196220.17	transcript	ENST00000383836.8	protein_coding	18/21			chr3	TogoVar
SRGAP3_chr3_8975591_9254646	9008442	G G	GGAGAGAG others(1): Show GGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02145.hp2 others(7): Show HG01884.hp2 HG02055.hp1 HG02145.hp2 HG02622.hp2 HG02717.hp2 HG02922.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0052 a0001c0002t0004	a0001c0001t0002g0078 a0001c0001t0004g0215 a0001c0001t0005g0033 others(7): Show a0001c0001t0002g0078 a0001c0001t0004g0215 a0001c0001t0005g0033 a0001c0001t0005g0076 a0001c0001t0005g0080 a0001c0001t0005g0206 a0001c0001t0005g0228 a0001c0001t0007g0066 a0001c0001t0052g0188 a0001c0002t0004g0037	10	228	0.0439	8	c.222 others(27): Show c.2227+1858_2227+1865dupTCTCTCTC	SRGAP3	ENSG00000196220.17	transcript	ENST00000383836.8	protein_coding	18/21			chr3	TogoVar
SRGAP3_chr3_8975591_9254646	9035612	G G	GGAAAGAA others(1): Show GGAAAGAAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA19030.hp1 NA19043.hp2 HG03139.hp2 NA19030.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0020 a0001c0001t0023 a0001c0003t0053 a0001c0001t0020 a0001c0001t0023 a0001c0003t0053	a0001c0001t0020g0069 a0001c0001t0023g0134 a0001c0003t0053g0205 a0001c0001t0020g0069 a0001c0001t0023g0134 a0001c0003t0053g0205	3	228	0.0132	8	c.143 others(27): Show c.1436+2443_1436+2450dupTTTCTTTC	SRGAP3	ENSG00000196220.17	transcript	ENST00000383836.8	protein_coding	11/21			chr3	TogoVar
SRGAP3_chr3_8975591_9254646	9064861	T T	TAATAAAT others(1): Show TAATAAATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02071.hp2 HG06807.hp1 others(5): Show HG00423.hp1 HG02071.hp2 HG06807.hp1 NA18957.hp1 NA18969.hp2 NA18986.hp1 NA18986.hp2 NA19090.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 a0001c0001t0043 a0003c0008t0002	a0001c0001t0001g0104 a0001c0001t0001g0194 a0001c0001t0002g0115 others(5): Show a0001c0001t0001g0104 a0001c0001t0001g0194 a0001c0001t0002g0115 a0001c0001t0002g0130 a0001c0001t0002g0165 a0001c0001t0019g0124 a0001c0001t0043g0101 a0003c0008t0002g0176	8	228	0.0351	8	c.487 others(23): Show c.487-288_487-281dupTATTTATT	SRGAP3	ENSG00000196220.17	transcript	ENST00000383836.8	protein_coding	4/21			chr3	TogoVar
SRGAP3_chr3_8975591_9254646	9075374	A A	AGTGTGTG others(1): Show AGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02895.hp2 HG02647.hp1 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0042 a0001c0003t0007 a0001c0001t0042 a0001c0003t0007	a0001c0001t0042g0185 a0001c0003t0007g0227 a0001c0001t0042g0185 a0001c0003t0007g0227	2	228	0.0088	8	c.486 others(25): Show c.486+4643_486+4650dupACACACAC	SRGAP3	ENSG00000196220.17	transcript	ENST00000383836.8	protein_coding	4/21			chr3	TogoVar
SRGAP3_chr3_8975591_9254646	9075390	T T	TGTGTGCG others(1): Show TGTGTGCGC	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA18522.hp1 HG03579.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0025 a0001c0001t0014 a0001c0001t0025	a0001c0001t0014g0177 a0001c0001t0025g0088 a0001c0001t0014g0177 a0001c0001t0025g0088	2	228	0.0088	8	c.486 others(25): Show c.486+4634_486+4635insGCGCACAC	SRGAP3	ENSG00000196220.17	transcript	ENST00000383836.8	protein_coding	4/21			chr3	TogoVar
SRGAP3_chr3_8975591_9254646	9096937	G G	GTATATAT others(1): Show GTATATATA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG04228.hp2 HG02040.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0024 a0001c0001t0001 a0001c0001t0024	a0001c0001t0001g0170 a0001c0001t0024g0218 a0001c0001t0001g0170 a0001c0001t0024g0218	2	228	0.0088	8	c.423 others(25): Show c.423+7735_423+7742dupTATATATA	SRGAP3	ENSG00000196220.17	transcript	ENST00000383836.8	protein_coding	3/21			chr3	TogoVar
SRGAP3_chr3_8975591_9254646	9123732	A A	ATGTGTGT others(1): Show ATGTGTGTG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02622.hp1 HG02965.hp2 others(1): Show HG01109.hp1 HG02622.hp1 HG02965.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0017 a0001c0001 a0001c0004 a0001c0017	a0001c0001t0004 a0001c0004t0002 a0001c0004t0009 others(1): Show a0001c0001t0004 a0001c0004t0002 a0001c0004t0009 a0001c0017t0014	a0001c0001t0004g0077 a0001c0004t0002g0070 a0001c0004t0009g0163 others(1): Show a0001c0001t0004g0077 a0001c0004t0002g0070 a0001c0004t0009g0163 a0001c0017t0014g0219	4	228	0.0175	8	c.260 others(23): Show c.260+985_260+992dupCACACACA	SRGAP3	ENSG00000196220.17	transcript	ENST00000383836.8	protein_coding	2/21			chr3	TogoVar
SRGAP3_chr3_8975591_9254646	9126618	A A	AAACTAAC others(1): Show AAACTAACT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01175.hp1 HG01069.hp1 HG01071.hp2 HG01175.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0001 a0001c0002t0010g0002 a0001c0002t0010g0003 a0001c0002t0010g0001 a0001c0002t0010g0002 a0001c0002t0010g0003	3	228	0.0132	8	c.68- others(23): Show c.68-1709_68-1702dupAGTTAGTT	SRGAP3	ENSG00000196220.17	transcript	ENST00000383836.8	protein_coding	1/21			chr3	TogoVar
SRGAP3_chr3_8975591_9254646	9142829	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00438.hp2 others(14): Show HG00423.hp2 HG00438.hp1 HG00438.hp2 HG01358.hp1 HG02071.hp1 HG02622.hp2 HG02647.hp1 HG02922.hp2 HG02970.hp1 HG03041.hp2 HG03098.hp1 HG03453.hp2 NA18944.hp2 NA18998.hp1 NA19067.hp1 NA19087.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0021 a0001c0001t0041 a0001c0001t0042 a0001c0001t0052 a0001c0002t0007 a0001c0005t0001 a0002c0010t0015	a0001c0001t0001g0021 a0001c0001t0001g0072 a0001c0001t0001g0174 others(14): Show a0001c0001t0001g0021 a0001c0001t0001g0072 a0001c0001t0001g0174 a0001c0001t0001g0201 a0001c0001t0002g0043 a0001c0001t0002g0078 a0001c0001t0003g0113 a0001c0001t0003g0207 a0001c0001t0007g0035 a0001c0001t0007g0066 a0001c0001t0021g0129 a0001c0001t0041g0083 a0001c0001t0042g0185 a0001c0001t0052g0188 a0001c0002t0007g0075 a0001c0005t0001g0007 a0002c0010t0015g0011	17	228	0.0746	8	c.68- others(25): Show c.68-17920_68-17913dupAAAAAAAA	SRGAP3	ENSG00000196220.17	transcript	ENST00000383836.8	protein_coding	1/21			chr3	TogoVar
SRGAP3_chr3_8975591_9254646	9164276	T T	TTTTATTT others(1): Show TTTTATTTA	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA19012.hp2 NA19043.hp2 HG02622.hp2 NA19012.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0023 a0001c0001t0002 a0001c0001t0003 a0001c0001t0023	a0001c0001t0002g0078 a0001c0001t0003g0106 a0001c0001t0023g0134 a0001c0001t0002g0078 a0001c0001t0003g0106 a0001c0001t0023g0134	3	228	0.0132	8	c.68- others(25): Show c.68-39367_68-39360dupTAAATAAA	SRGAP3	ENSG00000196220.17	transcript	ENST00000383836.8	protein_coding	1/21			chr3	TogoVar
SRGAP3_chr3_8975591_9254646	9242158	C C	CCAGATGA others(1): Show CCAGATGAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp1 HG02738.hp1 others(4): Show HG01884.hp1 HG02055.hp1 HG02738.hp1 HG03239.hp1 HG03492.hp2 HG04228.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0024 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0024 a0001c0001t0028 a0001c0001t0036 a0001c0001t0037	a0001c0001t0001g0214 a0001c0001t0004g0215 a0001c0001t0024g0216 others(4): Show a0001c0001t0001g0214 a0001c0001t0004g0215 a0001c0001t0024g0216 a0001c0001t0024g0218 a0001c0001t0028g0213 a0001c0001t0036g0204 a0001c0001t0037g0217	7	228	0.0307	8	c.67+ others(23): Show c.67+6719_67+6726dupCTCATCTG	SRGAP3	ENSG00000196220.17	transcript	ENST00000383836.8	protein_coding	1/21			chr3	TogoVar
SRGN_chr10_69083103_69109805	69097427	A A	ATTTTTTT others(1): Show ATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp1 others(11): Show HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00735.hp1 HG00741.hp1 HG01099.hp2 HG01257.hp2 HG02300.hp1 HG03209.hp2 HG03710.hp2 HG04115.hp1 HG04115.hp2 NA19084.hp1 NA20752.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0001 a0001c0001t0003 a0005c0008t0003 a0001c0001t0001 a0001c0001t0003 a0005c0008t0003	a0001c0001t0001g0198 a0001c0001t0003g0034 a0001c0001t0003g0196 others(9): Show a0001c0001t0001g0198 a0001c0001t0003g0034 a0001c0001t0003g0196 a0001c0001t0003g0201 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0206 a0001c0001t0003g0209 a0001c0001t0003g0212 a0001c0001t0003g0215 a0001c0001t0003g0216 a0005c0008t0003g0210	14	410	0.0342	8	c.227 others(23): Show c.227+206_227+213dupTTTTTTTT	SRGN	ENSG00000122862.5	transcript	ENST00000242465.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
SRL_chr16_4184374_4247080	4220278	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(20): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00642.hp1 HG00733.hp2 HG01069.hp1 HG01074.hp1 HG01175.hp2 HG01516.hp2 HG02735.hp2 HG02976.hp1 HG03130.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03486.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03834.hp2 HG04199.hp2 NA19060.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0001t0021 a0001c0002t0005 a0001c0002t0044	a0001c0001t0001g0029 a0001c0001t0001g0048 a0001c0001t0001g0108 others(20): Show a0001c0001t0001g0029 a0001c0001t0001g0048 a0001c0001t0001g0108 a0001c0001t0001g0203 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0231 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0282 a0001c0001t0001g0306 a0001c0001t0001g0309 a0001c0001t0002g0015 a0001c0001t0004g0073 a0001c0001t0004g0233 a0001c0001t0004g0240 a0001c0001t0004g0266 a0001c0001t0008g0079 a0001c0001t0010g0016 a0001c0001t0010g0060 a0001c0001t0021g0315 a0001c0002t0005g0160 a0001c0002t0044g0230	23	358	0.0643	8	c.62- others(25): Show c.62-15652_62-15645dupGTGTGTGT	SRL	ENSG00000185739.13	transcript	ENST00000399609.7	protein_coding	1/5			chr16	TogoVar
SRL_chr16_4184374_4247080	4227051	A A	AATGGATG others(1): Show AATGGATGG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02145.hp2 others(16): Show HG01884.hp1 HG01891.hp1 HG02145.hp2 HG02280.hp1 HG02630.hp2 HG02809.hp2 HG02818.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03453.hp2 HG03579.hp1 NA19030.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(7): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0029 a0001c0001t0033 a0001c0007t0030 a0001c0007t0031	a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0277 others(16): Show a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0277 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0006g0008 a0001c0001t0006g0017 a0001c0001t0007g0044 a0001c0001t0008g0273 a0001c0001t0008g0274 a0001c0001t0008g0278 a0001c0001t0010g0016 a0001c0001t0010g0060 a0001c0001t0011g0042 a0001c0001t0011g0276 a0001c0001t0029g0076 a0001c0001t0033g0129 a0001c0007t0030g0007 a0001c0007t0031g0087	19	358	0.0531	8	c.61+ others(25): Show c.61+14948_61+14955dupCCATCCAT	SRL	ENSG00000185739.13	transcript	ENST00000399609.7	protein_coding	1/5			chr16	TogoVar
SRL_chr16_4184374_4247080	4227056	A A	ATGGATAG others(1): Show ATGGATAGG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02258.hp1 HG02559.hp1 others(15): Show HG02055.hp2 HG02258.hp1 HG02559.hp1 HG02572.hp2 HG02647.hp2 HG02723.hp2 HG02922.hp1 HG03041.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp2 NA18522.hp1 NA19030.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0035 a0001c0003t0009	a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0004g0067 others(15): Show a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0004g0067 a0001c0001t0004g0072 a0001c0001t0004g0073 a0001c0001t0007g0021 a0001c0001t0008g0018 a0001c0001t0008g0020 a0001c0001t0008g0022 a0001c0001t0008g0023 a0001c0001t0012g0061 a0001c0001t0012g0065 a0001c0001t0014g0080 a0001c0001t0015g0066 a0001c0001t0035g0019 a0001c0003t0009g0069 a0001c0003t0009g0070 a0001c0003t0009g0071	18	358	0.0503	8	c.61+ others(25): Show c.61+14950_61+14951insCCTATCCA	SRL	ENSG00000185739.13	transcript	ENST00000399609.7	protein_coding	1/5			chr16	TogoVar
SRL_chr16_4184374_4247080	4227056	A A	ATGGATGG others(1): Show ATGGATGGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(182): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01978.hp1 HG01981.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp2 NA18955.hp1 NA18964.hp1 NA18964.hp2 NA18968.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18977.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp2 NA19001.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19060.hp2 NA19066.hp2 NA19067.hp1 NA19070.hp2 NA19079.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0012 a0003c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0001t0024 a0001c0001t0026 a0001c0001t0036 a0001c0001t0037 a0001c0001t0040 a0001c0002t0003 a0001c0002t0005 a0001c0002t0014 a0001c0002t0019 a0001c0002t0034 a0001c0002t0039 a0001c0002t0042 a0001c0002t0043 a0001c0002t0044 a0001c0003t0009 a0001c0006t0011 a0001c0012t0032 a0003c0009t0001	a0001c0001t0001g0004 a0001c0001t0001g0040 a0001c0001t0001g0046 others(180): Show a0001c0001t0001g0004 a0001c0001t0001g0040 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0075 a0001c0001t0001g0083 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0271 a0001c0001t0001g0279 a0001c0001t0001g0282 a0001c0001t0001g0285 a0001c0001t0001g0293 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0319 a0001c0001t0001g0321 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0332 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0343 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0352 a0001c0001t0002g0015 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0099 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0140 a0001c0001t0002g0144 a0001c0001t0002g0146 a0001c0001t0002g0151 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0161 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0002g0194 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0270 a0001c0001t0002g0284 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0331 a0001c0001t0002g0353 a0001c0001t0003g0300 a0001c0001t0004g0086 a0001c0001t0004g0113 a0001c0001t0004g0143 a0001c0001t0004g0152 a0001c0001t0004g0159 a0001c0001t0004g0228 a0001c0001t0004g0233 a0001c0001t0004g0240 a0001c0001t0004g0266 a0001c0001t0004g0322 a0001c0001t0004g0327 a0001c0001t0006g0045 a0001c0001t0006g0052 a0001c0001t0006g0063 a0001c0001t0006g0261 a0001c0001t0006g0302 a0001c0001t0007g0006 a0001c0001t0007g0013 a0001c0001t0007g0027 a0001c0001t0008g0079 a0001c0001t0008g0268 a0001c0001t0010g0005 a0001c0001t0010g0056 a0001c0001t0010g0078 a0001c0001t0010g0294 a0001c0001t0012g0077 a0001c0001t0013g0024 a0001c0001t0013g0350 a0001c0001t0013g0351 a0001c0001t0015g0107 a0001c0001t0017g0346 a0001c0001t0018g0082 a0001c0001t0018g0126 a0001c0001t0021g0315 a0001c0001t0024g0257 a0001c0001t0026g0288 a0001c0001t0036g0267 a0001c0001t0037g0011 a0001c0001t0040g0149 a0001c0002t0003g0003 a0001c0002t0003g0118 a0001c0002t0003g0147 a0001c0002t0003g0153 a0001c0002t0003g0223 a0001c0002t0003g0229 a0001c0002t0003g0246 a0001c0002t0003g0318 a0001c0002t0003g0330 a0001c0002t0005g0051 a0001c0002t0005g0100 a0001c0002t0005g0148 a0001c0002t0005g0160 a0001c0002t0005g0250 a0001c0002t0005g0256 a0001c0002t0005g0325 a0001c0002t0005g0326 a0001c0002t0005g0345 a0001c0002t0014g0162 a0001c0002t0019g0187 a0001c0002t0019g0264 a0001c0002t0034g0303 a0001c0002t0039g0145 a0001c0002t0042g0347 a0001c0002t0043g0333 a0001c0002t0044g0230 a0001c0003t0009g0316 a0001c0006t0011g0292 a0001c0012t0032g0291 a0003c0009t0001g0236	185	358	0.5168	8	c.61+ others(25): Show c.61+14950_61+14951insCCCATCCA	SRL	ENSG00000185739.13	transcript	ENST00000399609.7	protein_coding	1/5			chr16	TogoVar
SRP54_chr14_34977992_35034567	34981184	T T	TACACACA others(1): Show TACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02622.hp2 HG02630.hp1 HG02109.hp1 HG02622.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0115 a0001c0001t0001g0141 a0001c0001t0001g0085 a0001c0001t0001g0115 a0001c0001t0001g0141	3	396	0.0076	8	c.-20 others(19): Show c.-2065_-2064insACACACAC	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding		1807		chr14	TogoVar
SRP54_chr14_34977992_35034567	34988578	A A	AAAAAATA others(1): Show AAAAAATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG00544.hp1 others(55): Show HG00140.hp2 HG00423.hp2 HG00544.hp1 HG00609.hp1 HG01070.hp2 HG01071.hp1 HG01515.hp1 HG01975.hp2 HG02015.hp2 HG02056.hp2 HG02071.hp2 HG02083.hp2 HG02109.hp2 HG02257.hp2 HG02683.hp2 HG02723.hp2 HG03130.hp1 HG03239.hp1 HG03490.hp2 HG03492.hp1 HG03688.hp2 HG03704.hp1 HG03834.hp2 HG04199.hp1 HG06807.hp1 NA18522.hp2 NA18939.hp1 NA18944.hp1 NA18948.hp1 NA18950.hp2 NA18952.hp2 NA18956.hp1 NA18957.hp1 NA18959.hp1 NA18962.hp2 NA18965.hp2 NA18966.hp1 NA18968.hp1 NA18970.hp1 NA18973.hp1 NA18975.hp2 NA18982.hp1 NA18985.hp1 NA18986.hp2 NA18988.hp1 NA18989.hp2 NA18991.hp1 NA18994.hp2 NA19001.hp1 NA19004.hp1 NA19012.hp1 NA19054.hp2 NA19064.hp1 NA19066.hp1 NA19074.hp1 NA19081.hp2 NA19083.hp1 NA19084.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0006 others(1): Show a0001c0001 a0001c0002 a0002c0006 a0004c0004	a0001c0001t0003 a0001c0002t0003 a0002c0006t0003 others(1): Show a0001c0001t0003 a0001c0002t0003 a0002c0006t0003 a0004c0004t0003	a0001c0001t0003g0006 a0001c0001t0003g0177 a0001c0001t0003g0178 others(55): Show a0001c0001t0003g0006 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0186 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0259 a0001c0002t0003g0187 a0001c0002t0003g0197 a0001c0002t0003g0198 a0002c0006t0003g0220 a0004c0004t0003g0237	58	396	0.1465	8	c.-34 others(25): Show c.-34+5364_-34+5365insAAAATATA	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP54_chr14_34977992_35034567	34988578	A A	AAAATATA others(1): Show AAAATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01081.hp1 HG01257.hp2 others(7): Show HG00738.hp1 HG01081.hp1 HG01257.hp2 HG01258.hp1 HG02027.hp2 HG02132.hp1 NA18963.hp2 NA18971.hp2 NA18992.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0242 others(7): Show a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0003g0248 a0001c0001t0003g0263	10	396	0.0253	8	c.-34 others(25): Show c.-34+5364_-34+5365insAATATATA	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP54_chr14_34977992_35034567	34995134	G G	GGTGTGTG others(1): Show GGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03831.hp1 NA18982.hp1 HG03098.hp1 HG03831.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0232 a0001c0001t0003g0257 a0001c0001t0004g0048 a0001c0001t0003g0232 a0001c0001t0003g0257 a0001c0001t0004g0048	3	396	0.0076	8	c.-33 others(25): Show c.-33-1496_-33-1489dupGTGTGTGT	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr14	TogoVar

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