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
SYNE1_chr6_152116687_152642362	152364726	A A	AAGGAAGG others(9): Show AAGGAAGGAAGGAAGGG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01071.hp2 HG01109.hp2 others(13): Show HG00738.hp1 HG01071.hp2 HG01109.hp2 HG01192.hp2 HG01261.hp2 HG01346.hp2 HG02083.hp2 HG02129.hp2 HG02896.hp1 HG03516.hp1 HG03540.hp1 HG06807.hp2 NA18906.hp1 NA18939.hp1 NA19000.hp1 NA19000.hp2	a0002 a0003 a0004 others(11): Show a0002 a0003 a0004 a0006 a0015 a0018 a0024 a0041 a0043 a0056 a0074 a0095 a0100 a0102	a0002c0058 a0003c0148 a0004c0096 others(12): Show a0002c0058 a0003c0148 a0004c0096 a0006c0016 a0006c0023 a0015c0005 a0018c0004 a0024c0003 a0041c0094 a0043c0143 a0056c0088 a0074c0095 a0095c0158 a0100c0157 a0102c0159	a0002c0058t0005 a0003c0148t0009 a0004c0096t0002 others(12): Show a0002c0058t0005 a0003c0148t0009 a0004c0096t0002 a0006c0016t0005 a0006c0023t0004 a0015c0005t0008 a0018c0004t0006 a0024c0003t0010 a0041c0094t0008 a0043c0143t0004 a0056c0088t0006 a0074c0095t0002 a0095c0158t0015 a0100c0157t0002 a0102c0159t0001	a0002c0058t0005g0088 a0003c0148t0009g0121 a0004c0096t0002g0072 others(13): Show a0002c0058t0005g0088 a0003c0148t0009g0121 a0004c0096t0002g0072 a0006c0016t0005g0035 a0006c0023t0004g0056 a0015c0005t0008g0165 a0015c0005t0008g0170 a0018c0004t0006g0160 a0024c0003t0010g0129 a0041c0094t0008g0120 a0043c0143t0004g0037 a0056c0088t0006g0136 a0074c0095t0002g0096 a0095c0158t0015g0007 a0100c0157t0002g0011 a0102c0159t0001g0023	16	174	0.0920	16	c.101 others(35): Show c.10145+120_10145+121insCCCTTCCTTCCTTCCT	SYNE1	ENSG00000131018.25	transcript	ENST00000367255.10	protein_coding	63/145			chr6	TogoVar
SYNE1_chr6_152116687_152642362	152364732	G G	GGAAGGAA others(9): Show GGAAGGAAGGGAGGAAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0091 a0091	a0091c0150 a0091c0150	a0091c0150t0002 a0091c0150t0002	a0091c0150t0002g0017 a0091c0150t0002g0017	1	174	0.0058	16	c.101 others(35): Show c.10145+114_10145+115insTTTCCTCCCTTCCTTC	SYNE1	ENSG00000131018.25	transcript	ENST00000367255.10	protein_coding	63/145			chr6	TogoVar
SYNE1_chr6_152116687_152642362	152605006	A A	AAGAAAGA others(9): Show AAGAAAGAAAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0112 a0112	a0112c0121 a0112c0121	a0112c0121t0001 a0112c0121t0001	a0112c0121t0001g0110 a0112c0121t0001g0110	1	174	0.0058	16	c.67+ others(33): Show c.67+23258_67+23259insCTCTCTCTTTCTTTCT	SYNE1	ENSG00000131018.25	transcript	ENST00000367255.10	protein_coding	3/145			chr6	TogoVar
SYNE1_chr6_152116687_152642362	152605029	A A	AGAGGGAG others(9): Show AGAGGGAGGGAGGGAGG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0100 a0100	a0100c0157 a0100c0157	a0100c0157t0002 a0100c0157t0002	a0100c0157t0002g0011 a0100c0157t0002g0011	1	174	0.0058	16	c.67+ others(33): Show c.67+23235_67+23236insCCTCCCTCCCTCCCTC	SYNE1	ENSG00000131018.25	transcript	ENST00000367255.10	protein_coding	3/145			chr6	TogoVar
SYNE1_chr6_152116687_152642362	152605033	A A	AGAGAGGG others(9): Show AGAGAGGGGGAGGGAGG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0002 a0002	a0002c0057 a0002c0057	a0002c0057t0005 a0002c0057t0005	a0002c0057t0005g0100 a0002c0057t0005g0100	1	174	0.0058	16	c.67+ others(33): Show c.67+23231_67+23232insCCTCCCTCCCCCTCTC	SYNE1	ENSG00000131018.25	transcript	ENST00000367255.10	protein_coding	3/145			chr6	TogoVar
SYNE1_chr6_152116687_152642362	152605070	G G	GAGGGAGG others(9): Show GAGGGAGGGAGGAAAGA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0066 a0066	a0066c0042 a0066c0042	a0066c0042t0004 a0066c0042t0004	a0066c0042t0004g0069 a0066c0042t0004g0069	1	174	0.0058	16	c.67+ others(33): Show c.67+23194_67+23195insTCTTTCCTCCCTCCCT	SYNE1	ENSG00000131018.25	transcript	ENST00000367255.10	protein_coding	3/145			chr6	TogoVar
SYNE1_chr6_152116687_152642362	152605076	A A	AGAAGGAA others(9): Show AGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0085 a0085	a0085c0086 a0085c0086	a0085c0086t0004 a0085c0086t0004	a0085c0086t0004g0073 a0085c0086t0004g0073	1	174	0.0058	16	c.67+ others(33): Show c.67+23173_67+23188dupCTTCCTTCCTTCCTTC	SYNE1	ENSG00000131018.25	transcript	ENST00000367255.10	protein_coding	3/145			chr6	TogoVar
SYNE2_chr14_63848004_64231433	63859979	C C	CCCTTCCT others(9): Show CCCTTCCTCCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03209.hp2 HG02572.hp2 HG03209.hp2	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0001 a0005c0013t0001	a0005c0013t0001g0138 a0005c0013t0001g0139 a0005c0013t0001g0138 a0005c0013t0001g0139	2	150	0.0133	16	c.-52 others(33): Show c.-52+6843_-52+6844insCCCTTCCTTCCTTCCT	SYNE2	ENSG00000054654.20	transcript	ENST00000555002.6	protein_coding	1/115		INFO_REALIGN_3_PRIME	chr14	TogoVar
SYNE2_chr14_63848004_64231433	63924832	G G	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0065 a0065	a0065c0044 a0065c0044	a0065c0044t0002 a0065c0044t0002	a0065c0044t0002g0123 a0065c0044t0002g0123	1	150	0.0067	16	c.79+ others(33): Show c.79+15606_79+15607insTTTTTTTTTTTTTTTT	SYNE2	ENSG00000054654.20	transcript	ENST00000555002.6	protein_coding	2/115		INFO_REALIGN_3_PRIME	chr14	TogoVar
SYNE2_chr14_63848004_64231433	63944824	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0048 a0048	a0048c0091 a0048c0091	a0048c0091t0001 a0048c0091t0001	a0048c0091t0001g0016 a0048c0091t0001g0016	1	150	0.0067	16	c.408 others(33): Show c.408+2691_408+2706dupTTTTTTTTTTTTTTTT	SYNE2	ENSG00000054654.20	transcript	ENST00000555002.6	protein_coding	6/115		INFO_REALIGN_3_PRIME	chr14	TogoVar
SYNE2_chr14_63848004_64231433	63948156	G G	GACACACA others(9): Show GACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0001 a0005c0013t0001	a0005c0013t0001g0138 a0005c0013t0001g0138	1	150	0.0067	16	c.409 others(33): Show c.409-1660_409-1659insCACACACACACACACA	SYNE2	ENSG00000054654.20	transcript	ENST00000555002.6	protein_coding	6/115		INFO_REALIGN_3_PRIME	chr14	TogoVar
SYNE2_chr14_63848004_64231433	63948166	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0042 a0042	a0042c0093 a0042c0093	a0042c0093t0001 a0042c0093t0001	a0042c0093t0001g0096 a0042c0093t0001g0096	1	150	0.0067	16	c.409 others(33): Show c.409-1642_409-1627dupACACACACACACACAC	SYNE2	ENSG00000054654.20	transcript	ENST00000555002.6	protein_coding	6/115		INFO_REALIGN_3_PRIME	chr14	TogoVar
SYNE2_chr14_63848004_64231433	63948798	A A	ATGTATGT others(9): Show ATGTATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0068 a0068	a0068c0028 a0068c0028	a0068c0028t0003 a0068c0028t0003	a0068c0028t0003g0023 a0068c0028t0003g0023	1	150	0.0067	16	c.409 others(33): Show c.409-1026_409-1025insGTATGTGTGTGTGTGT	SYNE2	ENSG00000054654.20	transcript	ENST00000555002.6	protein_coding	6/115		INFO_REALIGN_3_PRIME	chr14	TogoVar
SYNE2_chr14_63848004_64231433	63948800	A A	ATGTATGT others(9): Show ATGTATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp1 HG02970.hp1 others(3): Show HG01891.hp1 HG02109.hp1 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03516.hp1	a0010 a0020 a0034 others(1): Show a0010 a0020 a0034 a0037	a0010c0006 a0020c0024 a0034c0072 others(1): Show a0010c0006 a0020c0024 a0034c0072 a0037c0023	a0010c0006t0006 a0020c0024t0001 a0034c0072t0007 others(1): Show a0010c0006t0006 a0020c0024t0001 a0034c0072t0007 a0037c0023t0001	a0010c0006t0006g0037 a0010c0006t0006g0039 a0010c0006t0006g0058 others(3): Show a0010c0006t0006g0037 a0010c0006t0006g0039 a0010c0006t0006g0058 a0020c0024t0001g0146 a0034c0072t0007g0018 a0037c0023t0001g0040	6	150	0.0400	16	c.409 others(33): Show c.409-1024_409-1023insGTATGTGTGTGTGTGT	SYNE2	ENSG00000054654.20	transcript	ENST00000555002.6	protein_coding	6/115		INFO_REALIGN_3_PRIME	chr14	TogoVar
SYNE2_chr14_63848004_64231433	63953535	G G	GAGATAGA others(9): Show GAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0034 a0034	a0034c0072 a0034c0072	a0034c0072t0007 a0034c0072t0007	a0034c0072t0007g0018 a0034c0072t0007g0018	1	150	0.0067	16	c.591 others(33): Show c.591-1181_591-1180insTAGATAGATAGATAGA	SYNE2	ENSG00000054654.20	transcript	ENST00000555002.6	protein_coding	7/115		INFO_REALIGN_3_PRIME	chr14	TogoVar
SYNE2_chr14_63848004_64231433	63974888	G G	GTATATAT others(9): Show GTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG04228.hp1 NA18994.hp2 HG01891.hp2 HG04228.hp1 NA18994.hp2	a0005 a0006 a0058 a0005 a0006 a0058	a0005c0022 a0006c0010 a0058c0053 a0005c0022 a0006c0010 a0058c0053	a0005c0022t0001 a0006c0010t0004 a0058c0053t0001 a0005c0022t0001 a0006c0010t0004 a0058c0053t0001	a0005c0022t0001g0056 a0006c0010t0004g0113 a0058c0053t0001g0133 a0005c0022t0001g0056 a0006c0010t0004g0113 a0058c0053t0001g0133	3	150	0.0200	16	c.112 others(35): Show c.1129-1674_1129-1673insATATATATATATATAT	SYNE2	ENSG00000054654.20	transcript	ENST00000555002.6	protein_coding	11/115		INFO_REALIGN_3_PRIME	chr14	TogoVar
SYNE2_chr14_63848004_64231433	63974892	G G	GTGTGTAT others(9): Show GTGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0039 a0039	a0039c0075 a0039c0075	a0039c0075t0001 a0039c0075t0001	a0039c0075t0001g0130 a0039c0075t0001g0130	1	150	0.0067	16	c.112 others(35): Show c.1129-1670_1129-1669insGTGTATATATATATAT	SYNE2	ENSG00000054654.20	transcript	ENST00000555002.6	protein_coding	11/115		INFO_REALIGN_3_PRIME	chr14	TogoVar
SYNE2_chr14_63848004_64231433	63974892	G G	GTGTGTGT others(9): Show GTGTGTGTGTGTATATA	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0067 a0067	a0067c0094 a0067c0094	a0067c0094t0001 a0067c0094t0001	a0067c0094t0001g0109 a0067c0094t0001g0109	1	150	0.0067	16	c.112 others(35): Show c.1129-1670_1129-1669insGTGTGTGTGTATATAT	SYNE2	ENSG00000054654.20	transcript	ENST00000555002.6	protein_coding	11/115		INFO_REALIGN_3_PRIME	chr14	TogoVar
SYNE2_chr14_63848004_64231433	63995730	C C	CATCTATC others(9): Show CATCTATCTATCTATCT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02300.hp1 NA18994.hp2 others(1): Show HG02280.hp2 HG02300.hp1 NA18994.hp2 NA21309.hp1	a0004 a0006 a0021 others(1): Show a0004 a0006 a0021 a0041	a0004c0003 a0006c0010 a0021c0098 others(1): Show a0004c0003 a0006c0010 a0021c0098 a0041c0039	a0004c0003t0003 a0006c0010t0004 a0021c0098t0001 others(1): Show a0004c0003t0003 a0006c0010t0004 a0021c0098t0001 a0041c0039t0004	a0004c0003t0003g0066 a0006c0010t0004g0113 a0021c0098t0001g0082 others(1): Show a0004c0003t0003g0066 a0006c0010t0004g0113 a0021c0098t0001g0082 a0041c0039t0004g0067	4	150	0.0267	16	c.294 others(33): Show c.2940+550_2940+565dupTCTATCTATCTATCTA	SYNE2	ENSG00000054654.20	transcript	ENST00000555002.6	protein_coding	23/115		INFO_REALIGN_3_PRIME	chr14	TogoVar
SYNE2_chr14_63848004_64231433	64068861	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0071 a0071	a0071c0045 a0071c0045	a0071c0045t0001 a0071c0045t0001	a0071c0045t0001g0115 a0071c0045t0001g0115	1	150	0.0067	16	c.104 others(37): Show c.10432-1776_10432-1761dupAAAAAAAAAAAAAAAA	SYNE2	ENSG00000054654.20	transcript	ENST00000555002.6	protein_coding	51/115		INFO_REALIGN_3_PRIME	chr14	TogoVar
SYNE2_chr14_63848004_64231433	64149439	G G	GTTAGAAA others(9): Show GTTAGAAAAGTTAAGAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03471.hp1 HG02965.hp2 HG03471.hp1	a0047 a0051 a0047 a0051	a0047c0027 a0051c0052 a0047c0027 a0051c0052	a0047c0027t0001 a0051c0052t0005 a0047c0027t0001 a0051c0052t0005	a0047c0027t0001g0083 a0051c0052t0005g0053 a0047c0027t0001g0083 a0051c0052t0005g0053	2	150	0.0133	16	c.156 others(37): Show c.15640-3125_15640-3124insTTAGAAAAGTTAAGAA	SYNE2	ENSG00000054654.20	transcript	ENST00000555002.6	protein_coding	84/115			chr14	TogoVar
SYNE2_chr14_63848004_64231433	64164087	C C	CTTATTTA others(9): Show CTTATTTATTTATTTAT	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0066 a0066	a0066c0060 a0066c0060	a0066c0060t0008 a0066c0060t0008	a0066c0060t0008g0024 a0066c0060t0008g0024	1	150	0.0067	16	c.164 others(35): Show c.16479+533_16479+548dupATTTATTTATTTATTT	SYNE2	ENSG00000054654.20	transcript	ENST00000555002.6	protein_coding	89/115		INFO_REALIGN_3_PRIME	chr14	TogoVar
SYNE2_chr14_63848004_64231433	64184329	G G	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0004 a0006c0010t0004	a0006c0010t0004g0079 a0006c0010t0004g0079	1	150	0.0067	16	c.175 others(37): Show c.17557-2076_17557-2061dupGTGTGTGTGTGTGTGT	SYNE2	ENSG00000054654.20	transcript	ENST00000555002.6	protein_coding	96/115		INFO_REALIGN_3_PRIME	chr14	TogoVar
SYNE2_chr14_63848004_64231433	64226698	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG01109.hp1 HG01891.hp1 others(6): Show HG00423.hp2 HG01109.hp1 HG01891.hp1 HG02280.hp1 HG02897.hp1 HG02970.hp2 HG03471.hp2 HG03710.hp2 NA19000.hp1	a0002 a0003 a0013 others(5): Show a0002 a0003 a0013 a0017 a0024 a0034 a0045 a0052	a0002c0057 a0003c0002 a0013c0020 others(5): Show a0002c0057 a0003c0002 a0013c0020 a0017c0012 a0024c0041 a0034c0072 a0045c0084 a0052c0040	a0002c0057t0001 a0003c0002t0001 a0013c0020t0001 others(5): Show a0002c0057t0001 a0003c0002t0001 a0013c0020t0001 a0017c0012t0001 a0024c0041t0001 a0034c0072t0007 a0045c0084t0007 a0052c0040t0007	a0002c0057t0001g0128 a0003c0002t0001g0091 a0013c0020t0001g0063 others(6): Show a0002c0057t0001g0128 a0003c0002t0001g0091 a0013c0020t0001g0063 a0017c0012t0001g0073 a0017c0012t0001g0097 a0024c0041t0001g0036 a0034c0072t0007g0018 a0045c0084t0007g0057 a0052c0040t0007g0150	9	150	0.0600	16	c.11 others(27): Show c.1172_*1173insTTTTTTTTTTTTTTTT	SYNE2	ENSG00000054654.20	transcript	ENST00000555002.6	protein_coding		266		chr14	TogoVar
SYNE3_chr14_95402266_95521650	95429967	T T	TAAGGAAG others(9): Show TAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01884.hp2 others(5): Show HG01167.hp1 HG01169.hp1 HG01884.hp2 HG03041.hp1 HG03130.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1	a0003 a0007 a0008 others(2): Show a0003 a0007 a0008 a0014 a0030	a0003c0042 a0007c0033 a0008c0031 others(2): Show a0003c0042 a0007c0033 a0008c0031 a0014c0030 a0030c0046	a0003c0042t0174 a0003c0042t0179 a0007c0033t0175 others(3): Show a0003c0042t0174 a0003c0042t0179 a0007c0033t0175 a0008c0031t0020 a0014c0030t0170 a0030c0046t0171	a0003c0042t0174g0187 a0003c0042t0179g0222 a0007c0033t0175g0342 others(5): Show a0003c0042t0174g0187 a0003c0042t0179g0222 a0007c0033t0175g0342 a0008c0031t0020g0095 a0008c0031t0020g0096 a0008c0031t0020g0301 a0014c0030t0170g0086 a0030c0046t0171g0221	8	384	0.0208	16	c.272 others(35): Show c.2727+2096_2727+2111dupCCTTCCTTCCTTCCTT	SYNE3	ENSG00000176438.13	transcript	ENST00000682763.1	protein_coding	17/17			chr14	TogoVar
SYNE3_chr14_95402266_95521650	95499856	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02559.hp1 HG02717.hp2 others(5): Show HG02258.hp1 HG02559.hp1 HG02717.hp2 HG02818.hp1 HG02970.hp1 HG03130.hp1 NA19002.hp1 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0006 a0010 a0025 a0039	a0001c0095 a0002c0061 a0003c0004 others(5): Show a0001c0095 a0002c0061 a0003c0004 a0005c0010 a0006c0028 a0010c0024 a0025c0047 a0039c0098	a0001c0095t0210 a0002c0061t0002 a0003c0004t0031 others(5): Show a0001c0095t0210 a0002c0061t0002 a0003c0004t0031 a0005c0010t0011 a0006c0028t0007 a0010c0024t0172 a0025c0047t0050 a0039c0098t0178	a0001c0095t0210g0068 a0002c0061t0002g0082 a0003c0004t0031g0080 others(5): Show a0001c0095t0210g0068 a0002c0061t0002g0082 a0003c0004t0031g0080 a0005c0010t0011g0182 a0006c0028t0007g0304 a0010c0024t0172g0081 a0025c0047t0050g0079 a0039c0098t0178g0125	8	384	0.0208	16	c.-15 others(35): Show c.-15+16724_-15+16739dupAAAAAAAAAAAAAAAA	SYNE3	ENSG00000176438.13	transcript	ENST00000682763.1	protein_coding	1/17			chr14	TogoVar
SYNE3_chr14_95402266_95521650	95513737	T T	TTATATAT others(9): Show TTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA18961.hp1 HG00673.hp2 NA18961.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0043 a0003c0004t0014 a0002c0002t0043 a0003c0004t0014	a0002c0002t0043g0348 a0003c0004t0014g0091 a0002c0002t0043g0348 a0003c0004t0014g0091	2	384	0.0052	16	c.-15 others(33): Show c.-15+2843_-15+2858dupTATATATATATATATA	SYNE3	ENSG00000176438.13	transcript	ENST00000682763.1	protein_coding	1/17			chr14	TogoVar
SYNE3_chr14_95402266_95521650	95520969	G G	GTATATAT others(9): Show GTATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0011 a0011	a0011c0037 a0011c0037	a0011c0037t0023 a0011c0037t0023	a0011c0037t0023g0315 a0011c0037t0023g0315	1	384	0.0026	16	c.-43 others(27): Show c.-4389_-4388insTATATATATATATATA	SYNE3	ENSG00000176438.13	transcript	ENST00000682763.1	protein_coding		4320		chr14	TogoVar
SYNE4_chr19_35998307_36013813	36013717	C C	CAGGGAGC others(9): Show CAGGGAGCCTTTCTCAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0002 a0002c0004t0001g0002	1	376	0.0027	16	c.-50 others(27): Show c.-5052_-5037dupTTGAGAAAGGCTCCCT	SYNE4	ENSG00000181392.17	transcript	ENST00000324444.9	protein_coding		4905		chr19	TogoVar
SYNGR1_chr22_39344991_39390575	39365988	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	300	0.0033	16	c.100 others(33): Show c.100-8316_100-8301dupTTTTTTTTTTTTTTTT	SYNGR1	ENSG00000100321.15	transcript	ENST00000328933.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
SYNGR1_chr22_39344991_39390575	39378373	G G	GTTCATTC others(9): Show GTTCATTCATTCATTCA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01934.hp2 HG00639.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0192 a0001c0001t0001g0104 a0001c0001t0001g0192	2	300	0.0067	16	c.483 others(33): Show c.483+2188_483+2203dupATTCATTCATTCATTC	SYNGR1	ENSG00000100321.15	transcript	ENST00000328933.10	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
SYNGR3_chr16_1984970_1999275	1995140	G G	GATAAATA others(9): Show GATAAATAAATAAATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	428	0.0023	16	c.20 others(27): Show c.2068_*2069insATAAATAAATAAATAA	SYNGR3	ENSG00000127561.16	transcript	ENST00000248121.7	protein_coding		866		chr16	TogoVar
SYNJ2_chr6_157976863_158104176	157989427	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA19004.hp1 NA19058.hp2 HG03471.hp1 NA19004.hp1 NA19058.hp2	a0001 a0021 a0001 a0021	a0001c0001 a0001c0024 a0021c0044 a0001c0001 a0001c0024 a0021c0044	a0001c0001t0001 a0001c0024t0002 a0021c0044t0002 a0001c0001t0001 a0001c0024t0002 a0021c0044t0002	a0001c0001t0001g0052 a0001c0024t0002g0226 a0021c0044t0002g0198 a0001c0001t0001g0052 a0001c0024t0002g0226 a0021c0044t0002g0198	3	312	0.0096	16	c.127 others(33): Show c.127+7364_127+7379dupATATATATATATATAT	SYNJ2	ENSG00000078269.15	transcript	ENST00000355585.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
SYNJ2_chr6_157976863_158104176	157996223	C C	CGCCCCTT others(9): Show CGCCCCTTCCTTCCTCA	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA18522.hp2 HG02965.hp1 NA18522.hp2	a0001 a0007 a0001 a0007	a0001c0052 a0007c0027 a0001c0052 a0007c0027	a0001c0052t0001 a0007c0027t0016 a0001c0052t0001 a0007c0027t0016	a0001c0052t0001g0272 a0007c0027t0016g0031 a0001c0052t0001g0272 a0007c0027t0016g0031	2	312	0.0064	16	c.127 others(35): Show c.127+14139_127+14154dupCCTTCCTTCCTCAGCC	SYNJ2	ENSG00000078269.15	transcript	ENST00000355585.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
SYNJ2_chr6_157976863_158104176	158025979	G G	GCATACAT others(9): Show GCATACATACATACATA	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp2 NA19058.hp2 NA18985.hp1 NA18985.hp2 NA19058.hp2	a0002 a0005 a0021 a0002 a0005 a0021	a0002c0002 a0005c0028 a0021c0044 a0002c0002 a0005c0028 a0021c0044	a0002c0002t0003 a0005c0028t0002 a0021c0044t0002 a0002c0002t0003 a0005c0028t0002 a0021c0044t0002	a0002c0002t0003g0184 a0005c0028t0002g0208 a0021c0044t0002g0198 a0002c0002t0003g0184 a0005c0028t0002g0208 a0021c0044t0002g0198	3	312	0.0096	16	c.215 others(33): Show c.215-2775_215-2760dupATACATACATACATAC	SYNJ2	ENSG00000078269.15	transcript	ENST00000355585.9	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
SYNJ2_chr6_157976863_158104176	158054166	T T	TATCCATC others(9): Show TATCCATCCATCCATCC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0220 a0001c0011t0002g0220	1	312	0.0032	16	c.796 others(31): Show c.796-787_796-772dupTCCATCCATCCATCCA	SYNJ2	ENSG00000078269.15	transcript	ENST00000355585.9	protein_coding	5/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
SYNM_chr15_99100080_99140593	99104555	A A	ATATATAT others(9): Show ATATATATATATATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG02723.hp1 HG01496.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	2	420	0.0048	16	c.-64 others(25): Show c.-645_-644insTATATATATATATTTT	SYNM	ENSG00000182253.15	transcript	ENST00000336292.11	protein_coding		524		chr15	TogoVar
SYNM_chr15_99100080_99140593	99104555	A A	ATATATAT others(9): Show ATATATATATATTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01358.hp1 HG03942.hp1 others(5): Show HG01257.hp1 HG01358.hp1 HG03942.hp1 HG04204.hp2 NA18998.hp1 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0008c0029 a0001c0001 a0002c0002 a0008c0029	a0001c0001t0001 a0001c0001t0029 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0029 a0002c0002t0001 a0008c0029t0004	a0001c0001t0001g0002 a0001c0001t0001g0149 a0001c0001t0001g0166 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0149 a0001c0001t0001g0166 a0001c0001t0029g0138 a0002c0002t0001g0006 a0008c0029t0004g0133	8	420	0.0191	16	c.-64 others(25): Show c.-645_-644insTATATATATATTTTTT	SYNM	ENSG00000182253.15	transcript	ENST00000336292.11	protein_coding		524		chr15	TogoVar
SYNM_chr15_99100080_99140593	99104555	A A	ATATATAT others(9): Show ATATATATATTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG01255.hp1 HG01515.hp2 others(1): Show HG00323.hp2 HG01255.hp1 HG01515.hp2 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0041 a0001c0001t0001g0135 a0001c0001t0001g0002 a0001c0001t0001g0041 a0001c0001t0001g0135	4	420	0.0095	16	c.-64 others(25): Show c.-645_-644insTATATATATTTTTTTT	SYNM	ENSG00000182253.15	transcript	ENST00000336292.11	protein_coding		524		chr15	TogoVar
SYNM_chr15_99100080_99140593	99104555	A A	ATATATAT others(9): Show ATATATATTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	420	0.0024	16	c.-64 others(25): Show c.-645_-644insTATATATTTTTTTTTT	SYNM	ENSG00000182253.15	transcript	ENST00000336292.11	protein_coding		524		chr15	TogoVar
SYNM_chr15_99100080_99140593	99128001	C C	CTTCATTC others(9): Show CTTCATTCATTCATTCA	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0189 a0004c0004t0005g0189	1	420	0.0024	16	c.100 others(35): Show c.1006+1228_1006+1243dupCATTCATTCATTCATT	SYNM	ENSG00000182253.15	transcript	ENST00000336292.11	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr15	TogoVar
SYNPO2_chr4_118883854_119066247	118890697	T T	TTCTCTCT others(9): Show TTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02895.hp1 HG02897.hp2 others(5): Show HG01257.hp2 HG02895.hp1 HG02897.hp2 HG03225.hp2 HG03654.hp1 NA18963.hp2 NA18979.hp1 NA19030.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0019	a0001c0001 a0002c0004 a0003c0006 others(3): Show a0001c0001 a0002c0004 a0003c0006 a0004c0009 a0005c0008 a0019c0031	a0001c0001t0003 a0002c0004t0004 a0003c0006t0001 others(4): Show a0001c0001t0003 a0002c0004t0004 a0003c0006t0001 a0004c0009t0001 a0005c0008t0001 a0005c0008t0002 a0019c0031t0027	a0001c0001t0003g0175 a0001c0001t0003g0177 a0002c0004t0004g0120 others(5): Show a0001c0001t0003g0175 a0001c0001t0003g0177 a0002c0004t0004g0120 a0003c0006t0001g0109 a0004c0009t0001g0042 a0005c0008t0001g0121 a0005c0008t0002g0110 a0019c0031t0027g0176	8	310	0.0258	16	c.105 others(33): Show c.105+1578_105+1593dupCTCTCTCTCTCTCTCT	SYNPO2	ENSG00000172403.11	transcript	ENST00000307142.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
SYNPO2_chr4_118883854_119066247	118890733	C C	CTCTCTCT others(9): Show CTCTCTCTCTCTCTCTG	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA18962.hp2 HG00597.hp2 NA18962.hp2	a0001 a0012 a0001 a0012	a0001c0017 a0012c0035 a0001c0017 a0012c0035	a0001c0017t0001 a0012c0035t0001 a0001c0017t0001 a0012c0035t0001	a0001c0017t0001g0182 a0012c0035t0001g0183 a0001c0017t0001g0182 a0012c0035t0001g0183	2	310	0.0065	16	c.105 others(33): Show c.105+1593_105+1594insCTCTCTCTCTCTCTGT	SYNPO2	ENSG00000172403.11	transcript	ENST00000307142.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
SYNPO2_chr4_118883854_119066247	118890733	C C	CTCTCTCT others(9): Show CTCTCTCTCTCTCTGTG	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA18522.hp1 HG03209.hp1 NA18522.hp1	a0009 a0009	a0009c0020 a0009c0020	a0009c0020t0014 a0009c0020t0014	a0009c0020t0014g0192 a0009c0020t0014g0193 a0009c0020t0014g0192 a0009c0020t0014g0193	2	310	0.0065	16	c.105 others(33): Show c.105+1593_105+1594insCTCTCTCTCTCTGTGT	SYNPO2	ENSG00000172403.11	transcript	ENST00000307142.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
SYNPO2_chr4_118883854_119066247	118890733	C C	CTCTCTCT others(9): Show CTCTCTCTCTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0011 a0004c0010t0011	a0004c0010t0011g0010 a0004c0010t0011g0010	1	310	0.0032	16	c.105 others(33): Show c.105+1593_105+1594insCTCTCTCTGTGTGTGT	SYNPO2	ENSG00000172403.11	transcript	ENST00000307142.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
SYNPO2_chr4_118883854_119066247	118900703	C C	CTCTCTCT others(9): Show CTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0017 a0005c0008t0017	a0005c0008t0017g0222 a0005c0008t0017g0222	1	310	0.0032	16	c.105 others(35): Show c.105+11563_105+11564insCTCTCTATATATATAT	SYNPO2	ENSG00000172403.11	transcript	ENST00000307142.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
SYNPO2_chr4_118883854_119066247	118900703	C C	CTCTCTCT others(9): Show CTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	310	0.0032	16	c.105 others(35): Show c.105+11563_105+11564insCTCTCTCTCTATATAT	SYNPO2	ENSG00000172403.11	transcript	ENST00000307142.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
SYNPO2_chr4_118883854_119066247	118900703	C C	CTCTCTCT others(9): Show CTCTCTCTCTCTCTATA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03688.hp2 HG03195.hp1 HG03688.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0005 a0003c0002t0006 a0001c0001t0005 a0003c0002t0006	a0001c0001t0005g0018 a0003c0002t0006g0306 a0001c0001t0005g0018 a0003c0002t0006g0306	2	310	0.0065	16	c.105 others(35): Show c.105+11563_105+11564insCTCTCTCTCTCTATAT	SYNPO2	ENSG00000172403.11	transcript	ENST00000307142.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
SYNPO2_chr4_118883854_119066247	118927776	T T	TGATAGAT others(9): Show TGATAGATAGATAGATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp1 HG00609.hp1 others(76): Show HG00408.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG01081.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01256.hp2 HG01261.hp2 HG01515.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02027.hp1 HG02040.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02602.hp1 HG02622.hp2 HG02630.hp1 HG02698.hp1 HG02723.hp1 HG02738.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03490.hp2 HG03491.hp2 HG03654.hp1 HG03710.hp1 HG03942.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18956.hp2 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18968.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18984.hp1 NA18986.hp1 NA18987.hp2 NA18989.hp1 NA18998.hp2 NA19004.hp1 NA19011.hp2 NA19070.hp2 NA19079.hp2 NA19086.hp2 NA19240.hp1 NA20905.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0007 a0009 a0014 a0018 a0021	a0001c0001 a0001c0005 a0001c0017 others(17): Show a0001c0001 a0001c0005 a0001c0017 a0002c0003 a0002c0004 a0003c0002 a0003c0006 a0004c0009 a0004c0010 a0004c0011 a0004c0014 a0004c0015 a0004c0038 a0005c0007 a0005c0008 a0007c0012 a0009c0020 a0014c0022 a0018c0025 a0021c0030	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(41): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0013 a0001c0005t0001 a0001c0005t0002 a0001c0005t0004 a0001c0005t0030 a0001c0005t0033 a0001c0017t0001 a0002c0003t0001 a0002c0003t0003 a0002c0003t0009 a0002c0003t0022 a0002c0004t0001 a0002c0004t0004 a0002c0004t0005 a0003c0002t0001 a0003c0002t0002 a0003c0002t0004 a0003c0002t0005 a0003c0002t0006 a0003c0002t0028 a0003c0006t0001 a0003c0006t0002 a0003c0006t0008 a0004c0009t0003 a0004c0009t0014 a0004c0010t0020 a0004c0011t0015 a0004c0014t0004 a0004c0015t0004 a0004c0038t0020 a0005c0007t0001 a0005c0007t0041 a0005c0008t0001 a0005c0008t0017 a0007c0012t0039 a0009c0020t0014 a0014c0022t0047 a0018c0025t0001 a0021c0030t0009	a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0141 others(76): Show a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0141 a0001c0001t0001g0210 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0264 a0001c0001t0001g0279 a0001c0001t0002g0200 a0001c0001t0003g0225 a0001c0001t0004g0015 a0001c0001t0012g0249 a0001c0001t0013g0179 a0001c0005t0001g0029 a0001c0005t0001g0168 a0001c0005t0002g0272 a0001c0005t0004g0039 a0001c0005t0030g0187 a0001c0005t0033g0254 a0001c0017t0001g0055 a0001c0017t0001g0182 a0002c0003t0001g0070 a0002c0003t0003g0062 a0002c0003t0003g0145 a0002c0003t0003g0146 a0002c0003t0003g0173 a0002c0003t0009g0310 a0002c0003t0022g0073 a0002c0004t0001g0246 a0002c0004t0004g0086 a0002c0004t0005g0172 a0002c0004t0005g0191 a0002c0004t0005g0206 a0002c0004t0005g0219 a0002c0004t0005g0289 a0002c0004t0005g0290 a0003c0002t0001g0074 a0003c0002t0001g0205 a0003c0002t0002g0030 a0003c0002t0002g0224 a0003c0002t0002g0228 a0003c0002t0002g0268 a0003c0002t0004g0275 a0003c0002t0005g0303 a0003c0002t0006g0305 a0003c0002t0006g0306 a0003c0002t0006g0307 a0003c0002t0028g0242 a0003c0006t0001g0109 a0003c0006t0001g0144 a0003c0006t0001g0197 a0003c0006t0001g0284 a0003c0006t0002g0195 a0003c0006t0002g0253 a0003c0006t0002g0278 a0003c0006t0008g0174 a0004c0009t0003g0261 a0004c0009t0014g0309 a0004c0010t0020g0063 a0004c0011t0015g0204 a0004c0014t0004g0009 a0004c0015t0004g0024 a0004c0015t0004g0090 a0004c0038t0020g0003 a0005c0007t0001g0071 a0005c0007t0001g0287 a0005c0007t0001g0288 a0005c0007t0041g0129 a0005c0008t0001g0079 a0005c0008t0001g0121 a0005c0008t0001g0203 a0005c0008t0001g0241 a0005c0008t0001g0302 a0005c0008t0017g0222 a0007c0012t0039g0217 a0009c0020t0014g0192 a0014c0022t0047g0057 a0018c0025t0001g0263 a0021c0030t0009g0158	79	310	0.2548	16	c.105 others(35): Show c.105+38652_105+38667dupGATAGATAGATAGATA	SYNPO2	ENSG00000172403.11	transcript	ENST00000307142.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
SYNPO2_chr4_118883854_119066247	118927799	T T	TTGATAGA others(9): Show TTGATAGATAGATAGAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0011 a0004c0010t0011	a0004c0010t0011g0010 a0004c0010t0011g0010	1	310	0.0032	16	c.105 others(35): Show c.105+38658_105+38659insTGATAGATAGATAGAA	SYNPO2	ENSG00000172403.11	transcript	ENST00000307142.9	protein_coding	1/4			chr4	TogoVar

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