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
SDHC_chr1_161309381_161368206	161309552	A A	ATATATTT others(15): Show ATATATTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0308 a0001c0001t0006g0308	1	62	0.0161	22	c.-48 others(33): Show c.-4854_-4853insTATATTTTTTTTTTTTTTTTTT	SDHC	ENSG00000143252.16	transcript	ENST00000367975.7	protein_coding		4828		chr1	TogoVar
SDHC_chr1_161309381_161368206	161339662	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA19068.hp1 HG00621.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0177 a0001c0001t0001g0079 a0001c0001t0001g0177	2	57	0.0351	22	c.180 others(37): Show c.180-925_180-904dupTTTTTTTTTTTTTTTTTTTTTT	SDHC	ENSG00000143252.16	transcript	ENST00000367975.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	3319878	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp1 HG01891.hp1 others(5): Show HG01109.hp1 HG01243.hp1 HG01891.hp1 HG02559.hp2 HG02630.hp1 HG02922.hp1 HG03098.hp2 HG03688.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0007 a0015 a0020	a0001c0026 a0001c0027 a0002c0041 others(5): Show a0001c0026 a0001c0027 a0002c0041 a0002c0043 a0003c0047 a0007c0006 a0015c0074 a0020c0063	a0001c0026t0002 a0001c0027t0020 a0002c0041t0007 others(5): Show a0001c0026t0002 a0001c0027t0020 a0002c0041t0007 a0002c0043t0035 a0003c0047t0038 a0007c0006t0012 a0015c0074t0042 a0020c0063t0007	a0001c0026t0002g0086 a0001c0027t0020g0087 a0002c0041t0007g0108 others(5): Show a0001c0026t0002g0086 a0001c0027t0020g0087 a0002c0041t0007g0108 a0002c0043t0035g0079 a0003c0047t0038g0082 a0007c0006t0012g0115 a0015c0074t0042g0081 a0020c0063t0007g0106	8	39	0.2051	22	c.298 others(41): Show c.298+18011_298+18012insTTTTTTTTTTTTTTTTTTTTTT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3321794	T T	TTCCTTCC others(15): Show TTCCTTCCTTCCTTCCTTCTCCC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03540.hp1 HG01109.hp2 HG03540.hp1	a0014 a0029 a0014 a0029	a0014c0085 a0029c0084 a0014c0085 a0029c0084	a0014c0085t0043 a0029c0084t0045 a0014c0085t0043 a0029c0084t0045	a0014c0085t0043g0010 a0029c0084t0045g0011 a0014c0085t0043g0010 a0029c0084t0045g0011	2	116	0.0172	22	c.298 others(41): Show c.298+19928_298+19929insTCCCTCCTTCCTTCCTTCCTTC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3357328	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0072 a0001c0072	a0001c0072t0065 a0001c0072t0065	a0001c0072t0065g0027 a0001c0072t0065g0027	1	25	0.0400	22	c.298 others(41): Show c.298+55462_298+55483dupTTTTTTTTTTTTTTTTTTTTTT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3435321	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0034 a0034	a0034c0052 a0034c0052	a0034c0052t0032 a0034c0052t0032	a0034c0052t0032g0107 a0034c0052t0032g0107	1	26	0.0385	22	c.298 others(43): Show c.298+133443_298+133464dupTTTTTTTTTTTTTTTTTTTTTT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3485683	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA20129.hp2 HG02258.hp1 NA20129.hp2	a0001 a0035 a0001 a0035	a0001c0064 a0035c0073 a0001c0064 a0035c0073	a0001c0064t0006 a0035c0073t0001 a0001c0064t0006 a0035c0073t0001	a0001c0064t0006g0111 a0035c0073t0001g0016 a0001c0064t0006g0111 a0035c0073t0001g0016	2	14	0.1429	22	c.299 others(43): Show c.299-133396_299-133375dupTTTTTTTTTTTTTTTTTTTTTT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3504182	A A	ATATGTGT others(15): Show ATATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0052 a0004c0003t0052	a0004c0003t0052g0069 a0004c0003t0052g0069	1	17	0.0588	22	c.299 others(43): Show c.299-114897_299-114896insATGTGTGTGTGTGTGTGTGTGT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3504182	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01934.hp2 HG02602.hp1 others(1): Show HG01516.hp2 HG01934.hp2 HG02602.hp1 HG03491.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0026	a0001c0005 a0003c0001 a0005c0056 others(1): Show a0001c0005 a0003c0001 a0005c0056 a0026c0028	a0001c0005t0001 a0003c0001t0059 a0005c0056t0006 others(1): Show a0001c0005t0001 a0003c0001t0059 a0005c0056t0006 a0026c0028t0049	a0001c0005t0001g0025 a0003c0001t0059g0026 a0005c0056t0006g0097 others(1): Show a0001c0005t0001g0025 a0003c0001t0059g0026 a0005c0056t0006g0097 a0026c0028t0049g0035	4	20	0.2000	22	c.299 others(43): Show c.299-114888_299-114867dupGTGTGTGTGTGTGTGTGTGTGT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3655489	A A	ATGTATGT others(15): Show ATGTATGTATGTATGTATGTATG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0020 a0020	a0020c0063 a0020c0063	a0020c0063t0007 a0020c0063t0007	a0020c0063t0007g0106 a0020c0063t0007g0106	1	113	0.0088	22	c.713 others(41): Show c.713+13385_713+13386insGTATGTATGTATGTATGTATGT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3672757	T T	TTATATAT others(15): Show TTATATATATACATATATATATA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02738.hp1 HG02738.hp2 others(2): Show HG01934.hp1 HG02738.hp1 HG02738.hp2 HG02896.hp1 HG03098.hp1	a0001 a0023 a0001 a0023	a0001c0034 a0001c0039 a0001c0060 others(2): Show a0001c0034 a0001c0039 a0001c0060 a0001c0062 a0023c0083	a0001c0034t0028 a0001c0039t0050 a0001c0060t0041 others(2): Show a0001c0034t0028 a0001c0039t0050 a0001c0060t0041 a0001c0062t0053 a0023c0083t0044	a0001c0034t0028g0098 a0001c0039t0050g0022 a0001c0060t0041g0080 others(2): Show a0001c0034t0028g0098 a0001c0039t0050g0022 a0001c0060t0041g0080 a0001c0062t0053g0042 a0023c0083t0044g0004	5	64	0.0781	22	c.713 others(41): Show c.713+30653_713+30654insATATATATACATATATATATAT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3672759	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0008 a0008	a0008c0078 a0008c0078	a0008c0078t0001 a0008c0078t0001	a0008c0078t0001g0074 a0008c0078t0001g0074	1	16	0.0625	22	c.713 others(41): Show c.713+30669_713+30690dupTATATATATATATATATATATA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3687056	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02717.hp2 HG02976.hp2 HG01361.hp2 HG02717.hp2 HG02976.hp2	a0001 a0001	a0001c0014 a0001c0036 a0001c0095 a0001c0014 a0001c0036 a0001c0095	a0001c0014t0018 a0001c0036t0033 a0001c0095t0029 a0001c0014t0018 a0001c0036t0033 a0001c0095t0029	a0001c0014t0018g0062 a0001c0036t0033g0116 a0001c0095t0029g0050 a0001c0014t0018g0062 a0001c0036t0033g0116 a0001c0095t0029g0050	3	19	0.1579	22	c.713 others(41): Show c.713+44974_713+44995dupACACACACACACACACACACAC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4074856	T T	TACTTTCT others(15): Show TACTTTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02717.hp1 HG03139.hp2 others(1): Show HG01978.hp2 HG02717.hp1 HG03139.hp2 HG03491.hp2	a0002 a0009 a0002 a0009	a0002c0013 a0002c0030 a0002c0042 others(1): Show a0002c0013 a0002c0030 a0002c0042 a0009c0020	a0002c0013t0064 a0002c0030t0034 a0002c0042t0002 others(1): Show a0002c0013t0064 a0002c0030t0034 a0002c0042t0002 a0009c0020t0070	a0002c0013t0064g0023 a0002c0030t0034g0083 a0002c0042t0002g0105 others(1): Show a0002c0013t0064g0023 a0002c0030t0034g0083 a0002c0042t0002g0105 a0009c0020t0070g0009	4	76	0.0526	22	c.301 others(41): Show c.3011-2142_3011-2141insACTTTCTCTCTCTCTCTCTCTC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	20/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	4074884	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTCTCTGTG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0039 a0001c0011t0039	a0001c0011t0039g0061 a0001c0011t0039g0061	1	88	0.0114	22	c.301 others(41): Show c.3011-2113_3011-2112insCTCTCTCTCTCTCTCTCTGTGT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	20/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4193372	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0021 a0021	a0021c0068 a0021c0068	a0021c0068t0014 a0021c0068t0014	a0021c0068t0014g0014 a0021c0068t0014g0014	1	14	0.0714	22	c.509 others(43): Show c.5099-12502_5099-12481dupTATATATATATATATATATATA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	35/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK2_chr17_73329384_73649445	73355174	A A	ATATATAT others(15): Show ATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0013 a0013	a0013c0078 a0013c0078	a0013c0078t0005 a0013c0078t0005	a0013c0078t0005g0010 a0013c0078t0005g0010	1	52	0.0192	22	c.559 others(41): Show c.5594-2538_5594-2537insAAAAAAAATATATATATATATA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73426208	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0013 a0013	a0013c0078 a0013c0078	a0013c0078t0005 a0013c0078t0005	a0013c0078t0005g0010 a0013c0078t0005g0010	1	4	0.2500	22	c.158 others(41): Show c.1584-2138_1584-2117dupAAAAAAAAAAAAAAAAAAAAAA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	12/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73483661	G G	GTATATAT others(15): Show GTATATATATATATATATTTATA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0010 a0010	a0010c0099 a0010c0099	a0010c0099t0013 a0010c0099t0013	a0010c0099t0013g0135 a0010c0099t0013g0135	1	119	0.0084	22	c.225 others(41): Show c.225-11444_225-11443insTATAAATATATATATATATATA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	2/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73509902	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02965.hp1 HG02970.hp2 others(1): Show HG02148.hp1 HG02965.hp1 HG02970.hp2 HG03225.hp1	a0001 a0007 a0001 a0007	a0001c0010 a0001c0036 a0007c0019 a0001c0010 a0001c0036 a0007c0019	a0001c0010t0001 a0001c0036t0029 a0007c0019t0027 others(1): Show a0001c0010t0001 a0001c0036t0029 a0007c0019t0027 a0007c0019t0075	a0001c0010t0001g0036 a0001c0036t0029g0124 a0007c0019t0027g0004 others(1): Show a0001c0010t0001g0036 a0001c0036t0029g0124 a0007c0019t0027g0004 a0007c0019t0075g0017	4	53	0.0755	22	c.65- others(37): Show c.65-2306_65-2305insTTTTTTTTTTTTTTTTTTTTTT	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	1/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73544985	T T	TTTCTTCC others(15): Show TTTCTTCCTTGGGCCTCCACTCC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00544.hp2 others(17): Show HG00280.hp2 HG00323.hp2 HG00544.hp2 HG00639.hp1 HG01106.hp2 HG01169.hp1 HG01884.hp1 HG02109.hp1 HG02486.hp2 HG02738.hp2 HG03098.hp2 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03516.hp2 HG03688.hp1 HG04204.hp2 HG04228.hp1 NA20905.hp2 NA21309.hp2	a0001 a0004 a0005 others(7): Show a0001 a0004 a0005 a0006 a0007 a0009 a0010 a0014 a0022 a0027	a0001c0005 a0001c0006 a0001c0008 others(16): Show a0001c0005 a0001c0006 a0001c0008 a0001c0023 a0001c0025 a0001c0053 a0001c0094 a0001c0111 a0004c0011 a0004c0027 a0005c0012 a0006c0042 a0007c0019 a0007c0083 a0009c0021 a0010c0099 a0014c0086 a0022c0081 a0027c0114	a0001c0005t0017 a0001c0006t0014 a0001c0006t0020 others(17): Show a0001c0005t0017 a0001c0006t0014 a0001c0006t0020 a0001c0008t0030 a0001c0023t0008 a0001c0025t0016 a0001c0053t0022 a0001c0094t0005 a0001c0111t0001 a0004c0011t0011 a0004c0027t0024 a0005c0012t0081 a0006c0042t0053 a0007c0019t0027 a0007c0083t0076 a0009c0021t0019 a0010c0099t0013 a0014c0086t0012 a0022c0081t0001 a0027c0114t0094	a0001c0005t0017g0106 a0001c0006t0014g0201 a0001c0006t0020g0202 others(17): Show a0001c0005t0017g0106 a0001c0006t0014g0201 a0001c0006t0020g0202 a0001c0008t0030g0104 a0001c0023t0008g0034 a0001c0025t0016g0180 a0001c0053t0022g0040 a0001c0094t0005g0090 a0001c0111t0001g0203 a0004c0011t0011g0060 a0004c0027t0024g0033 a0005c0012t0081g0178 a0006c0042t0053g0030 a0007c0019t0027g0004 a0007c0083t0076g0037 a0009c0021t0019g0046 a0010c0099t0013g0135 a0014c0086t0012g0204 a0022c0081t0001g0182 a0027c0114t0094g0179	20	150	0.1333	22	c.65- others(39): Show c.65-37410_65-37389dupGGAGTGGAGGCCCAAGGAAGAA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	1/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73545099	G G	GCACACAC others(15): Show GCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01884.hp1 HG02145.hp2 others(13): Show HG00642.hp2 HG01884.hp1 HG02145.hp2 HG02630.hp1 HG02717.hp1 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG03041.hp1 HG03098.hp1 HG03195.hp1 HG03225.hp2 HG03486.hp2 HG03579.hp1 NA18522.hp2 NA19088.hp1	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0005 a0008 a0018	a0001c0002 a0001c0003 a0001c0005 others(10): Show a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0008 a0001c0018 a0001c0035 a0003c0009 a0004c0080 a0004c0095 a0005c0012 a0008c0047 a0018c0076	a0001c0002t0010 a0001c0003t0090 a0001c0005t0001 others(12): Show a0001c0002t0010 a0001c0003t0090 a0001c0005t0001 a0001c0005t0017 a0001c0005t0050 a0001c0006t0002 a0001c0008t0085 a0001c0018t0008 a0001c0035t0056 a0003c0009t0002 a0004c0080t0054 a0004c0095t0037 a0005c0012t0058 a0008c0047t0023 a0018c0076t0034	a0001c0002t0010g0184 a0001c0003t0090g0134 a0001c0005t0001g0053 others(13): Show a0001c0002t0010g0184 a0001c0003t0090g0134 a0001c0005t0001g0053 a0001c0005t0017g0106 a0001c0005t0050g0032 a0001c0006t0002g0078 a0001c0008t0085g0143 a0001c0018t0008g0016 a0001c0018t0008g0157 a0001c0035t0056g0066 a0003c0009t0002g0089 a0004c0080t0054g0081 a0004c0095t0037g0062 a0005c0012t0058g0041 a0008c0047t0023g0019 a0018c0076t0034g0020	16	95	0.1684	22	c.65- others(39): Show c.65-37524_65-37503dupTGTGTGTGTGTGTGTGTGTGTG	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	1/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73583705	C C	CCCACTCC others(15): Show CCCACTCCCCATTCTGTCTGGGG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00733.hp1 others(41): Show HG00280.hp2 HG00323.hp2 HG00733.hp1 HG01169.hp1 HG01192.hp2 HG01361.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01981.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp2 HG02630.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03688.hp1 HG03704.hp1 HG03834.hp1 HG04115.hp2 HG04228.hp1 NA18522.hp2 NA19043.hp1 NA19240.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0014 a0018 a0022 a0027	a0001c0002 a0001c0003 a0001c0005 others(34): Show a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0010 a0001c0013 a0001c0015 a0001c0018 a0001c0023 a0001c0026 a0001c0039 a0001c0051 a0001c0052 a0001c0053 a0001c0068 a0001c0084 a0001c0094 a0001c0111 a0002c0028 a0002c0104 a0003c0017 a0004c0011 a0004c0080 a0004c0095 a0005c0012 a0007c0019 a0008c0044 a0008c0047 a0008c0069 a0008c0090 a0009c0021 a0014c0086 a0018c0076 a0022c0081 a0027c0114	a0001c0002t0001 a0001c0002t0010 a0001c0002t0065 others(41): Show a0001c0002t0001 a0001c0002t0010 a0001c0002t0065 a0001c0003t0011 a0001c0005t0017 a0001c0005t0024 a0001c0006t0014 a0001c0006t0020 a0001c0007t0003 a0001c0008t0004 a0001c0008t0030 a0001c0010t0043 a0001c0013t0013 a0001c0015t0004 a0001c0018t0008 a0001c0023t0017 a0001c0026t0022 a0001c0026t0035 a0001c0039t0047 a0001c0051t0046 a0001c0052t0007 a0001c0053t0022 a0001c0068t0007 a0001c0084t0088 a0001c0094t0005 a0001c0111t0001 a0002c0028t0060 a0002c0104t0003 a0003c0017t0005 a0004c0011t0010 a0004c0011t0018 a0004c0080t0054 a0004c0095t0037 a0005c0012t0058 a0007c0019t0075 a0008c0044t0023 a0008c0047t0023 a0008c0069t0102 a0008c0090t0023 a0009c0021t0004 a0014c0086t0012 a0018c0076t0034 a0022c0081t0001 a0027c0114t0094	a0001c0002t0001g0139 a0001c0002t0010g0184 a0001c0002t0065g0177 others(41): Show a0001c0002t0001g0139 a0001c0002t0010g0184 a0001c0002t0065g0177 a0001c0003t0011g0068 a0001c0005t0017g0106 a0001c0005t0024g0189 a0001c0006t0014g0201 a0001c0006t0020g0202 a0001c0007t0003g0026 a0001c0008t0004g0051 a0001c0008t0030g0104 a0001c0010t0043g0070 a0001c0013t0013g0193 a0001c0015t0004g0151 a0001c0018t0008g0016 a0001c0023t0017g0187 a0001c0026t0022g0117 a0001c0026t0035g0071 a0001c0039t0047g0147 a0001c0051t0046g0061 a0001c0052t0007g0057 a0001c0053t0022g0040 a0001c0068t0007g0119 a0001c0084t0088g0015 a0001c0094t0005g0090 a0001c0111t0001g0203 a0002c0028t0060g0018 a0002c0104t0003g0194 a0003c0017t0005g0191 a0004c0011t0010g0176 a0004c0011t0018g0183 a0004c0080t0054g0081 a0004c0095t0037g0062 a0005c0012t0058g0041 a0007c0019t0075g0017 a0008c0044t0023g0069 a0008c0047t0023g0019 a0008c0069t0102g0118 a0008c0090t0023g0072 a0009c0021t0004g0192 a0014c0086t0012g0204 a0018c0076t0034g0020 a0022c0081t0001g0182 a0027c0114t0094g0179	44	202	0.2178	22	c.64+ others(39): Show c.64+60319_64+60320insCCCCAGACAGAATGGGGAGTGG	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	1/44			chr17	TogoVar
SDR42E2_chr16_22157506_22196751	22173903	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00673.hp1 HG01123.hp1 others(17): Show HG00597.hp2 HG00673.hp1 HG01123.hp1 HG02155.hp1 HG03195.hp1 NA18942.hp1 NA18959.hp2 NA18965.hp1 NA18970.hp1 NA18975.hp1 NA18983.hp1 NA18989.hp2 NA19000.hp2 NA19004.hp1 NA19007.hp2 NA19011.hp1 NA19057.hp1 NA19057.hp2 NA19074.hp2 NA19091.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0001c0001t0001 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0052 others(14): Show a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0052 a0001c0001t0001g0063 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0141 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0002c0002t0001g0183 a0003c0003t0001g0128	20	179	0.1117	22	c.589 others(39): Show c.589+1573_589+1574insATATATATATATATATATATAT	SDR42E2	ENSG00000183921.8	transcript	ENST00000602312.3	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SDR42E2_chr16_22157506_22196751	22173905	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0167 a0002c0002t0015g0167	1	69	0.0145	22	c.589 others(39): Show c.589+1577_589+1598dupTATATATATATATATATATATA	SDR42E2	ENSG00000183921.8	transcript	ENST00000602312.3	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SDS_chr12_113387445_113408887	113406088	G G	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0094 a0001c0001t0003g0094	1	335	0.0030	22	c.-23 others(33): Show c.-2324_-2323insACACACACACACACACACACAC	SDS	ENSG00000135094.11	transcript	ENST00000257549.9	protein_coding		2202		chr12	TogoVar
SEC14L1_chr17_77135969_77222101	77140780	G G	GTCGGAGC others(15): Show GTCGGAGCTCGCGCCTGCGCAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	428	0.0023	22	c.-46 others(31): Show c.-463_-462insTCGGAGCTCGCGCCTGCGCAGT	SEC14L1	ENSG00000129657.16	transcript	ENST00000436233.9	protein_coding		188		chr17	TogoVar
SEC14L3_chr22_30454229_30477017	30454536	A A	AATAATAT others(15): Show AATAATATTATTAGATATAATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	108	0.0093	22	c.54 others(33): Show c.5484_*5485insAGATTATATCTAATAATATTAT	SEC14L3	ENSG00000100012.12	transcript	ENST00000215812.9	protein_coding		4692		chr22	TogoVar
SEC14L3_chr22_30454229_30477017	30454536	A A	AATAATAT others(15): Show AATAATATTATTATATATAATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00408.hp2 others(217): Show HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00673.hp1 HG00733.hp2 HG01069.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01358.hp1 HG01361.hp1 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01952.hp2 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18959.hp2 NA18960.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18978.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp2 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18997.hp2 NA18998.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19086.hp2 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0010	a0001c0001 a0001c0007 a0003c0003 others(3): Show a0001c0001 a0001c0007 a0003c0003 a0004c0004 a0004c0014 a0010c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0012 a0001c0007t0001 a0003c0003t0001 a0004c0004t0001 a0004c0014t0001 a0010c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0017 others(77): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0003g0009 a0001c0001t0003g0067 a0001c0001t0003g0119 a0001c0001t0008g0046 a0001c0001t0012g0118 a0001c0007t0001g0042 a0003c0003t0001g0088 a0004c0004t0001g0005 a0004c0004t0001g0007 a0004c0004t0001g0008 a0004c0004t0001g0012 a0004c0004t0001g0032 a0004c0004t0001g0035 a0004c0004t0001g0085 a0004c0004t0001g0094 a0004c0004t0001g0095 a0004c0004t0001g0096 a0004c0004t0001g0097 a0004c0004t0001g0098 a0004c0004t0001g0099 a0004c0004t0001g0100 a0004c0004t0001g0143 a0004c0004t0001g0158 a0004c0014t0001g0144 a0010c0011t0001g0081	220	327	0.6728	22	c.54 others(33): Show c.5484_*5485insAGATTATATATAATAATATTAT	SEC14L3	ENSG00000100012.12	transcript	ENST00000215812.9	protein_coding		4692		chr22	TogoVar
SEC14L4_chr22_30483902_30510695	30501846	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0240 a0002c0002t0002g0240	1	60	0.0167	22	c.130 others(39): Show c.130+1809_130+1830dupATATATATATATATATATATAT	SEC14L4	ENSG00000133488.15	transcript	ENST00000255858.12	protein_coding	2/11			chr22	TogoVar
SEC16B_chr1_177923788_177975058	177965400	G G	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01109.hp2 HG01169.hp2 others(14): Show HG00621.hp2 HG01109.hp2 HG01169.hp2 HG02074.hp2 HG02132.hp2 HG02165.hp2 HG02698.hp2 HG02717.hp1 HG02818.hp2 HG03209.hp2 HG03471.hp1 HG03831.hp1 NA18948.hp2 NA18966.hp2 NA18979.hp2 NA19043.hp1 NA19058.hp2	a0001 a0004 a0001 a0004	a0001c0004 a0001c0021 a0001c0036 others(1): Show a0001c0004 a0001c0021 a0001c0036 a0004c0027	a0001c0004t0001 a0001c0021t0001 a0001c0036t0001 others(1): Show a0001c0004t0001 a0001c0021t0001 a0001c0036t0001 a0004c0027t0006	a0001c0004t0001g0012 a0001c0004t0001g0072 a0001c0004t0001g0092 others(11): Show a0001c0004t0001g0012 a0001c0004t0001g0072 a0001c0004t0001g0092 a0001c0004t0001g0134 a0001c0004t0001g0241 a0001c0004t0001g0242 a0001c0004t0001g0243 a0001c0004t0001g0244 a0001c0004t0001g0245 a0001c0021t0001g0258 a0001c0021t0001g0259 a0001c0021t0001g0306 a0001c0036t0001g0117 a0004c0027t0006g0053	17	209	0.0813	22	c.413 others(37): Show c.413-234_413-233insACACACACACACACACACACAC	SEC16B	ENSG00000120341.19	transcript	ENST00000308284.11	protein_coding	3/25			chr1	TogoVar
SEC22A_chr3_123196943_123279136	123220867	C C	CATACATA others(15): Show CATACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0142 a0001c0001t0002g0142	1	242	0.0041	22	c.183 others(39): Show c.183-2689_183-2688insCATATATATATATATATATATA	SEC22A	ENSG00000121542.12	transcript	ENST00000492595.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
SEC22A_chr3_123196943_123279136	123220867	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01361.hp2 HG02027.hp2 others(7): Show HG00597.hp1 HG01361.hp2 HG02027.hp2 HG02071.hp1 HG02074.hp1 HG02257.hp1 HG02683.hp1 NA18906.hp1 NA19004.hp2 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0002c0002t0002	a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0116 others(7): Show a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0136 a0001c0001t0002g0147 a0001c0001t0004g0106 a0001c0001t0009g0100 a0002c0002t0002g0149	10	251	0.0398	22	c.183 others(39): Show c.183-2679_183-2678insTATATATATATATATATATATA	SEC22A	ENSG00000121542.12	transcript	ENST00000492595.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
SEC22B_chr1_120145898_120181520	120159527	A A	AATATATT others(15): Show AATATATTTAATATATATTAAAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02970.hp2 HG02257.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0038 a0001c0002t0028g0038	2	378	0.0053	22	c.493 others(37): Show c.493+835_493+856dupATTTAATATATATTAAATATAT	SEC22B	ENSG00000265808.4	transcript	ENST00000578049.4	protein_coding	4/4			chr1	TogoVar
SEC22B_chr1_120145898_120181520	120178958	A A	AACACACA others(15): Show AACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0016 a0001c0002t0010g0016	1	129	0.0078	22	c.-25 others(33): Show c.-2578_-2577insGTGTGTGTGTGTGTGTGTGTGT	SEC22B	ENSG00000265808.4	transcript	ENST00000578049.4	protein_coding		2439		chr1	TogoVar
SEC23A_chr14_39026919_39108235	39062841	T T	TAATTATC others(15): Show TAATTATCTCCTGTGGCAGAAAA	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0117 a0001c0003t0001g0117	1	364	0.0027	22	c.139 others(39): Show c.1398+461_1398+482dupTTTTCTGCCACAGGAGATAATT	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	12/19			chr14	TogoVar
SEC23B_chr20_18502940_18566415	18508716	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0004 a0007c0009t0004	a0007c0009t0004g0259 a0007c0009t0004g0259	1	34	0.0294	22	c.-15 others(37): Show c.-15+765_-15+766insTTTTTTTTTTTTTTTTTTTTTT	SEC23B	ENSG00000101310.17	transcript	ENST00000650089.1	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr20	TogoVar
SEC24A_chr5_134643785_134732909	134699301	C C	CGTTTTTT others(15): Show CGTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 NA19030.hp1 HG00738.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0304 a0001c0001t0007g0313 a0001c0001t0007g0304 a0001c0001t0007g0313	2	282	0.0071	22	c.226 others(41): Show c.2266+1244_2266+1245insGTTTTTTTTTTTTTTTTTTTTT	SEC24A	ENSG00000113615.13	transcript	ENST00000398844.7	protein_coding	15/22			chr5	TogoVar
SEC24B_chr4_109428815_109545896	109482979	T T	TATACACA others(15): Show TATACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0106 a0001c0002t0004g0106	1	12	0.0833	22	c.116 others(41): Show c.1165+1199_1165+1200insTACACACACACACACACACACA	SEC24B	ENSG00000138802.11	transcript	ENST00000265175.5	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEC24B_chr4_109428815_109545896	109482979	T T	TATATATA others(15): Show TATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	12	0.0833	22	c.116 others(41): Show c.1165+1199_1165+1200insTATATATATATACACACACACA	SEC24B	ENSG00000138802.11	transcript	ENST00000265175.5	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEC24B_chr4_109428815_109545896	109482979	T T	TATATATA others(15): Show TATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	12	0.0833	22	c.116 others(41): Show c.1165+1199_1165+1200insTATATATATATATACACACACA	SEC24B	ENSG00000138802.11	transcript	ENST00000265175.5	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEC24B_chr4_109428815_109545896	109482979	T T	TATATATA others(15): Show TATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA18960.hp2 HG00438.hp1 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0216 a0001c0001t0001g0179 a0001c0001t0001g0216	2	13	0.1538	22	c.116 others(41): Show c.1165+1199_1165+1200insTATATATATATATATACACACA	SEC24B	ENSG00000138802.11	transcript	ENST00000265175.5	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEC24B_chr4_109428815_109545896	109482979	T T	TATATATA others(15): Show TATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	12	0.0833	22	c.116 others(41): Show c.1165+1199_1165+1200insTATATATATATATATATACACA	SEC24B	ENSG00000138802.11	transcript	ENST00000265175.5	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEC24B_chr4_109428815_109545896	109483003	C C	CACACACA others(15): Show CACACACACATACACACACACAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0111 a0001c0002t0003g0111	1	113	0.0088	22	c.116 others(41): Show c.1165+1223_1165+1224insCACACACATACACACACACATA	SEC24B	ENSG00000138802.11	transcript	ENST00000265175.5	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEC24B_chr4_109428815_109545896	109483003	C C	CACACACA others(15): Show CACACACATATACACACACACAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG03195.hp1 HG03516.hp2 HG00735.hp1 HG03195.hp1 HG03516.hp2	a0003 a0007 a0003 a0007	a0003c0007 a0007c0013 a0003c0007 a0007c0013	a0003c0007t0003 a0007c0013t0003 a0003c0007t0003 a0007c0013t0003	a0003c0007t0003g0213 a0003c0007t0003g0214 a0007c0013t0003g0212 a0003c0007t0003g0213 a0003c0007t0003g0214 a0007c0013t0003g0212	3	115	0.0261	22	c.116 others(41): Show c.1165+1223_1165+1224insCACACATATACACACACACATA	SEC24B	ENSG00000138802.11	transcript	ENST00000265175.5	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEC24B_chr4_109428815_109545896	109483044	G G	GTATTTAT others(15): Show GTATTTATATATATATATGTATT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01175.hp1 HG01884.hp1 others(17): Show HG00639.hp1 HG01175.hp1 HG01884.hp1 HG02004.hp1 HG02071.hp2 HG02080.hp1 HG02145.hp1 HG02165.hp2 HG02258.hp1 HG02451.hp1 HG02896.hp2 HG03209.hp2 NA18942.hp1 NA18947.hp1 NA18980.hp1 NA18982.hp1 NA18984.hp2 NA19060.hp2 NA19062.hp2 NA21309.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0006 a0009c0012 a0001c0001 a0001c0006 a0009c0012	a0001c0001t0002 a0001c0001t0009 a0001c0006t0002 others(2): Show a0001c0001t0002 a0001c0001t0009 a0001c0006t0002 a0001c0006t0016 a0009c0012t0002	a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 others(17): Show a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0095 a0001c0001t0009g0088 a0001c0006t0002g0093 a0001c0006t0016g0094 a0009c0012t0002g0086	20	172	0.1163	22	c.116 others(41): Show c.1165+1270_1165+1271insATATATATATGTATTTATTTAT	SEC24B	ENSG00000138802.11	transcript	ENST00000265175.5	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEC31A_chr4_82813509_82896153	82841442	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00558.hp2 others(8): Show HG00140.hp1 HG00280.hp2 HG00558.hp2 HG01070.hp2 HG01168.hp2 HG02109.hp2 NA18943.hp2 NA18948.hp2 NA18952.hp2 NA18983.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0119 a0001c0001t0001g0137 a0001c0001t0001g0146 others(8): Show a0001c0001t0001g0119 a0001c0001t0001g0137 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0204 a0001c0002t0001g0255	11	46	0.2391	22	c.296 others(39): Show c.2968+676_2968+697dupTATATATATATATATATATATA	SEC31A	ENSG00000138674.17	transcript	ENST00000395310.7	protein_coding	22/26			chr4	TogoVar
SEC61G_chr7_54747253_54764211	54760999	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	125	0.0080	22	c.-18 others(33): Show c.-1849_-1848insTTTTTTTTTTTTTTTTTTTTTT	SEC61G	ENSG00000132432.14	transcript	ENST00000352861.9	protein_coding		1789		chr7	TogoVar
SEC63_chr6_107862756_107963208	107863559	T T	TGCACGCG others(15): Show TGCACGCGCGCGCGCGCGCGCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	145	0.0069	22	c.81 others(33): Show c.8144_*8145insGCGCGCGCGCGCGCGCGCGTGC	SEC63	ENSG00000025796.14	transcript	ENST00000369002.9	protein_coding		4196		chr6	TogoVar
SEC63_chr6_107862756_107963208	107863559	T T	TGCGCGCG others(15): Show TGCGCGCGCGCGCGCGCGCGCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG01884.hp2 HG03831.hp1 others(3): Show HG01496.hp2 HG01884.hp2 HG03831.hp1 HG04184.hp1 NA18612.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0100 a0001c0001t0001g0109 a0001c0001t0001g0111 others(3): Show a0001c0001t0001g0100 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0149 a0001c0001t0003g0080 a0001c0001t0003g0162	6	150	0.0400	22	c.81 others(33): Show c.8144_*8145insGCGCGCGCGCGCGCGCGCGCGC	SEC63	ENSG00000025796.14	transcript	ENST00000369002.9	protein_coding		4196		chr6	TogoVar

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