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
SDK1_chr7_3296252_4274000	3504182	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02258.hp1 HG02630.hp2 others(4): Show HG00639.hp2 HG02258.hp1 HG02630.hp2 HG02723.hp2 HG02735.hp2 HG03098.hp1 HG03710.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0005 a0001c0007 a0001c0034 others(4): Show a0001c0005 a0001c0007 a0001c0034 a0001c0059 a0001c0064 a0002c0013 a0007c0006	a0001c0005t0051 a0001c0007t0003 a0001c0034t0028 others(4): Show a0001c0005t0051 a0001c0007t0003 a0001c0034t0028 a0001c0059t0027 a0001c0064t0006 a0002c0013t0015 a0007c0006t0001	a0001c0005t0051g0030 a0001c0007t0003g0033 a0001c0034t0028g0097 others(4): Show a0001c0005t0051g0030 a0001c0007t0003g0033 a0001c0034t0028g0097 a0001c0059t0027g0090 a0001c0064t0006g0111 a0002c0013t0015g0025 a0007c0006t0001g0036	7	116	0.0603	18	c.299 others(39): Show c.299-114884_299-114867dupGTGTGTGTGTGTGTGTGT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3582683	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0093 a0001c0093	a0001c0093t0006 a0001c0093t0006	a0001c0093t0006g0053 a0001c0093t0006g0053	1	116	0.0086	18	c.299 others(37): Show c.299-36388_299-36371dupAAAAAAAAAAAAAAAAAA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3605145	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00639.hp2 HG00735.hp1 others(13): Show HG00558.hp2 HG00639.hp2 HG00735.hp1 HG01081.hp2 HG01243.hp2 HG01516.hp1 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02647.hp1 HG02886.hp1 HG02922.hp2 HG03041.hp2 HG04228.hp2 NA18906.hp1 NA20129.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0005 a0011 a0013 a0016 a0032 a0035	a0001c0007 a0001c0008 a0001c0010 others(12): Show a0001c0007 a0001c0008 a0001c0010 a0001c0017 a0001c0061 a0001c0064 a0001c0092 a0002c0029 a0003c0001 a0005c0055 a0011c0021 a0013c0070 a0016c0045 a0032c0075 a0035c0073	a0001c0007t0003 a0001c0008t0004 a0001c0010t0060 others(12): Show a0001c0007t0003 a0001c0008t0004 a0001c0010t0060 a0001c0017t0011 a0001c0061t0031 a0001c0064t0006 a0001c0092t0048 a0002c0029t0005 a0003c0001t0063 a0005c0055t0055 a0011c0021t0073 a0013c0070t0026 a0016c0045t0015 a0032c0075t0008 a0035c0073t0001	a0001c0007t0003g0033 a0001c0008t0004g0096 a0001c0010t0060g0017 others(13): Show a0001c0007t0003g0033 a0001c0008t0004g0096 a0001c0010t0060g0017 a0001c0017t0011g0051 a0001c0017t0011g0052 a0001c0061t0031g0100 a0001c0064t0006g0111 a0001c0092t0048g0057 a0002c0029t0005g0094 a0003c0001t0063g0032 a0005c0055t0055g0021 a0011c0021t0073g0006 a0013c0070t0026g0112 a0016c0045t0015g0046 a0032c0075t0008g0016 a0035c0073t0001g0015	16	116	0.1379	18	c.299 others(37): Show c.299-13932_299-13915dupACACACACACACACACAC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3655501	A A	ATATATAT others(11): Show ATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0050 a0001c0039t0050	a0001c0039t0050g0022 a0001c0039t0050g0022	1	116	0.0086	18	c.713 others(37): Show c.713+13399_713+13400insATATATATATATATGTAT	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(11): Show TTATATATATACATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01109.hp2 HG01123.hp2 others(3): Show HG00735.hp1 HG01109.hp2 HG01123.hp2 HG01891.hp1 HG02630.hp1 NA18906.hp1	a0002 a0005 a0006 others(3): Show a0002 a0005 a0006 a0014 a0020 a0032	a0002c0041 a0005c0055 a0006c0077 others(3): Show a0002c0041 a0005c0055 a0006c0077 a0014c0085 a0020c0063 a0032c0075	a0002c0041t0007 a0005c0055t0055 a0006c0077t0003 others(3): Show a0002c0041t0007 a0005c0055t0055 a0006c0077t0003 a0014c0085t0043 a0020c0063t0007 a0032c0075t0008	a0002c0041t0007g0108 a0005c0055t0055g0021 a0006c0077t0003g0099 others(3): Show a0002c0041t0007g0108 a0005c0055t0055g0021 a0006c0077t0003g0099 a0014c0085t0043g0010 a0020c0063t0007g0106 a0032c0075t0008g0016	6	116	0.0517	18	c.713 others(37): Show c.713+30653_713+30654insATATATATACATATATAT	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(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA18522.hp2 HG03041.hp1 NA18522.hp2	a0025 a0031 a0025 a0031	a0025c0081 a0031c0069 a0025c0081 a0031c0069	a0025c0081t0008 a0031c0069t0069 a0025c0081t0008 a0031c0069t0069	a0025c0081t0008g0075 a0031c0069t0069g0064 a0025c0081t0008g0075 a0031c0069t0069g0064	2	116	0.0172	18	c.713 others(37): Show c.713+30673_713+30690dupTATATATATATATATATA	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(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02897.hp1 HG02922.hp1 others(3): Show HG01891.hp2 HG02897.hp1 HG02922.hp1 HG03195.hp1 HG03225.hp2 NA19030.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0025 a0001c0026 a0001c0093 others(3): Show a0001c0025 a0001c0026 a0001c0093 a0002c0066 a0005c0058 a0005c0065	a0001c0025t0024 a0001c0026t0002 a0001c0093t0006 others(3): Show a0001c0025t0024 a0001c0026t0002 a0001c0093t0006 a0002c0066t0023 a0005c0058t0012 a0005c0065t0037	a0001c0025t0024g0088 a0001c0026t0002g0086 a0001c0093t0006g0053 others(3): Show a0001c0025t0024g0088 a0001c0026t0002g0086 a0001c0093t0006g0053 a0002c0066t0023g0089 a0005c0058t0012g0063 a0005c0065t0037g0065	6	116	0.0517	18	c.713 others(37): Show c.713+44978_713+44995dupACACACACACACACACAC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3741987	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0043 a0002c0043	a0002c0043t0035 a0002c0043t0035	a0002c0043t0035g0079 a0002c0043t0035g0079	1	116	0.0086	18	c.714 others(37): Show c.714-79454_714-79437dupATATATATATATATATAT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3938645	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02886.hp1 HG02922.hp2 others(1): Show HG02258.hp2 HG02886.hp1 HG02922.hp2 NA18906.hp2	a0001 a0011 a0001 a0011	a0001c0017 a0011c0021 a0011c0022 a0001c0017 a0011c0021 a0011c0022	a0001c0017t0011 a0011c0021t0073 a0011c0022t0072 a0001c0017t0011 a0011c0021t0073 a0011c0022t0072	a0001c0017t0011g0051 a0001c0017t0011g0052 a0011c0021t0073g0006 others(1): Show a0001c0017t0011g0051 a0001c0017t0011g0052 a0011c0021t0073g0006 a0011c0022t0072g0007	4	116	0.0345	18	c.848 others(37): Show c.848-12263_848-12262insAAAAAAAAAAAAAAAAAA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	5/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4074856	T T	TACTTTCT others(11): Show TACTTTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01099.hp2 HG02738.hp1 HG01081.hp2 HG01099.hp2 HG02738.hp1	a0006 a0013 a0023 a0006 a0013 a0023	a0006c0016 a0013c0070 a0023c0083 a0006c0016 a0013c0070 a0023c0083	a0006c0016t0003 a0013c0070t0026 a0023c0083t0044 a0006c0016t0003 a0013c0070t0026 a0023c0083t0044	a0006c0016t0003g0068 a0013c0070t0026g0112 a0023c0083t0044g0004 a0006c0016t0003g0068 a0013c0070t0026g0112 a0023c0083t0044g0004	3	116	0.0259	18	c.301 others(37): Show c.3011-2142_3011-2141insACTTTCTCTCTCTCTCTC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	20/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	4074884	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTCTCTGTG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03139.hp1 HG02622.hp1 HG03139.hp1	a0001 a0001	a0001c0067 a0001c0087 a0001c0067 a0001c0087	a0001c0067t0068 a0001c0087t0009 a0001c0067t0068 a0001c0087t0009	a0001c0067t0068g0001 a0001c0087t0009g0054 a0001c0067t0068g0001 a0001c0087t0009g0054	2	116	0.0172	18	c.301 others(37): Show c.3011-2113_3011-2112insCTCTCTCTCTCTCTGTGT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	20/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4139539	A A	ATGTATAT others(11): Show ATGTATATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0032 a0032	a0032c0075 a0032c0075	a0032c0075t0008 a0032c0075t0008	a0032c0075t0008g0016 a0032c0075t0008g0016	1	116	0.0086	18	c.422 others(37): Show c.4229-6182_4229-6181insGTATATATGTGTGTGTGT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	28/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4193372	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0046 a0001c0046	a0001c0046t0022 a0001c0046t0022	a0001c0046t0022g0091 a0001c0046t0022g0091	1	116	0.0086	18	c.509 others(39): Show c.5099-12498_5099-12481dupTATATATATATATATATA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	35/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK2_chr17_73329384_73649445	73426208	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0002 a0003c0009t0002	a0003c0009t0002g0088 a0003c0009t0002g0088	1	204	0.0049	18	c.158 others(37): Show c.1584-2134_1584-2117dupAAAAAAAAAAAAAAAAAA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	12/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73495619	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0068 a0001c0001t0001 a0001c0001t0068	a0001c0001t0001g0013 a0001c0001t0068g0012 a0001c0001t0001g0013 a0001c0001t0068g0012	2	204	0.0098	18	c.224 others(37): Show c.224+11801_224+11818dupACACACACACACACACAC	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	2/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73509902	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02257.hp2 HG03209.hp2 others(2): Show HG02155.hp2 HG02257.hp2 HG03209.hp2 HG03225.hp2 NA18990.hp2	a0001 a0008 a0009 a0001 a0008 a0009	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0008c0090 a0009c0113	a0001c0001t0025 a0001c0002t0065 a0001c0005t0001 others(2): Show a0001c0001t0025 a0001c0002t0065 a0001c0005t0001 a0008c0090t0023 a0009c0113t0064	a0001c0001t0025g0085 a0001c0002t0065g0177 a0001c0005t0001g0050 others(2): Show a0001c0001t0025g0085 a0001c0002t0065g0177 a0001c0005t0001g0050 a0008c0090t0023g0071 a0009c0113t0064g0023	5	204	0.0245	18	c.65- others(33): Show c.65-2323_65-2306dupTTTTTTTTTTTTTTTTTT	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	1/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73545099	G G	GCACACAC others(11): Show GCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02056.hp2 HG02258.hp2 others(9): Show HG01346.hp1 HG02056.hp2 HG02258.hp2 HG02738.hp2 HG02976.hp1 HG03130.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1 NA19043.hp1 NA19088.hp2 NA21309.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0007 a0008 a0010 a0011	a0001c0003 a0001c0004 a0001c0010 others(9): Show a0001c0003 a0001c0004 a0001c0010 a0001c0015 a0002c0059 a0003c0009 a0004c0066 a0007c0019 a0008c0044 a0008c0090 a0010c0099 a0011c0063	a0001c0003t0011 a0001c0004t0010 a0001c0010t0043 others(9): Show a0001c0003t0011 a0001c0004t0010 a0001c0010t0043 a0001c0015t0004 a0002c0059t0063 a0003c0009t0087 a0004c0066t0018 a0007c0019t0027 a0008c0044t0023 a0008c0090t0023 a0010c0099t0013 a0011c0063t0025	a0001c0003t0011g0067 a0001c0004t0010g0021 a0001c0010t0043g0069 others(9): Show a0001c0003t0011g0067 a0001c0004t0010g0021 a0001c0010t0043g0069 a0001c0015t0004g0150 a0002c0059t0063g0144 a0003c0009t0087g0008 a0004c0066t0018g0031 a0007c0019t0027g0004 a0008c0044t0023g0068 a0008c0090t0023g0071 a0010c0099t0013g0133 a0011c0063t0025g0166	12	204	0.0588	18	c.65- others(35): Show c.65-37520_65-37503dupTGTGTGTGTGTGTGTGTG	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	1/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73574418	T T	TGAACATG others(11): Show TGAACATGTGTACGTGCAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00733.hp1 others(28): Show HG00280.hp2 HG00323.hp2 HG00733.hp1 HG01169.hp1 HG01192.hp2 HG01361.hp1 HG01884.hp2 HG01981.hp2 HG02145.hp2 HG02258.hp2 HG02630.hp1 HG02717.hp2 HG02809.hp2 HG02886.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03209.hp2 HG03453.hp1 HG03688.hp1 HG03704.hp1 HG03834.hp1 HG04115.hp2 HG04228.hp1 NA18522.hp2 NA19043.hp1 NA19240.hp1 NA20905.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0014 a0018 a0022	a0001c0002 a0001c0003 a0001c0006 others(27): Show a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0008 a0001c0010 a0001c0013 a0001c0015 a0001c0018 a0001c0023 a0001c0026 a0001c0039 a0001c0051 a0001c0052 a0001c0084 a0001c0094 a0001c0111 a0002c0028 a0002c0104 a0003c0017 a0004c0011 a0004c0095 a0005c0012 a0007c0019 a0008c0044 a0008c0047 a0008c0090 a0014c0086 a0018c0076 a0022c0081	a0001c0002t0001 a0001c0002t0010 a0001c0003t0011 others(28): Show a0001c0002t0001 a0001c0002t0010 a0001c0003t0011 a0001c0006t0020 a0001c0007t0003 a0001c0008t0030 a0001c0010t0043 a0001c0013t0013 a0001c0015t0004 a0001c0018t0008 a0001c0023t0017 a0001c0026t0035 a0001c0039t0047 a0001c0051t0046 a0001c0052t0007 a0001c0084t0088 a0001c0094t0005 a0001c0111t0001 a0002c0028t0060 a0002c0104t0003 a0003c0017t0005 a0004c0011t0018 a0004c0095t0037 a0005c0012t0058 a0007c0019t0075 a0008c0044t0023 a0008c0047t0023 a0008c0090t0023 a0014c0086t0012 a0018c0076t0034 a0022c0081t0001	a0001c0002t0001g0137 a0001c0002t0010g0181 a0001c0003t0011g0067 others(28): Show a0001c0002t0001g0137 a0001c0002t0010g0181 a0001c0003t0011g0067 a0001c0006t0020g0202 a0001c0007t0003g0026 a0001c0008t0030g0103 a0001c0010t0043g0069 a0001c0013t0013g0195 a0001c0015t0004g0150 a0001c0018t0008g0016 a0001c0023t0017g0189 a0001c0026t0035g0070 a0001c0039t0047g0146 a0001c0051t0046g0060 a0001c0052t0007g0056 a0001c0084t0088g0015 a0001c0094t0005g0089 a0001c0111t0001g0203 a0002c0028t0060g0018 a0002c0104t0003g0196 a0003c0017t0005g0193 a0004c0011t0018g0187 a0004c0095t0037g0061 a0005c0012t0058g0040 a0007c0019t0075g0017 a0008c0044t0023g0068 a0008c0047t0023g0019 a0008c0090t0023g0071 a0014c0086t0012g0204 a0018c0076t0034g0020 a0022c0081t0001g0186	31	204	0.1520	18	c.65- others(35): Show c.65-66822_65-66821insGTGCACGTACACATGTTC	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	1/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73612917	A A	AAATAATA others(11): Show AAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03225.hp1 HG02976.hp2 HG03225.hp1	a0001 a0007 a0001 a0007	a0001c0043 a0007c0019 a0001c0043 a0007c0019	a0001c0043t0033 a0007c0019t0027 a0001c0043t0033 a0007c0019t0027	a0001c0043t0033g0003 a0007c0019t0027g0004 a0001c0043t0033g0003 a0007c0019t0027g0004	2	204	0.0098	18	c.64+ others(35): Show c.64+31090_64+31107dupATTATTATTATTATTATT	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	1/44			chr17	TogoVar
SDR42E2_chr16_22157506_22196751	22173903	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02080.hp2 HG02523.hp1 others(9): Show HG02015.hp1 HG02080.hp2 HG02523.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG03239.hp1 NA18946.hp2 NA18971.hp1 NA18979.hp1 NA19005.hp1 NA19070.hp1	a0001 a0003 a0010 a0001 a0003 a0010	a0001c0001 a0003c0003 a0010c0010 a0001c0001 a0003c0003 a0010c0010	a0001c0001t0001 a0001c0001t0002 a0003c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0003c0003t0001 a0010c0010t0001	a0001c0001t0001g0049 a0001c0001t0001g0068 a0001c0001t0001g0069 others(9): Show a0001c0001t0001g0049 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0202 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0002g0256 a0003c0003t0001g0218 a0010c0010t0001g0111	12	356	0.0337	18	c.589 others(35): Show c.589+1573_589+1574insATATATATATATATATAT	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(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	356	0.0028	18	c.589 others(35): Show c.589+1581_589+1598dupTATATATATATATATATA	SDR42E2	ENSG00000183921.8	transcript	ENST00000602312.3	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SDS_chr12_113387445_113408887	113403967	C C	CCCCTCCC others(11): Show CCCCTCCCTCCTGCCAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0060 a0001c0003t0001g0060	1	344	0.0029	18	c.-22 others(27): Show c.-220_-203dupTCCTGGCAGGAGGGAGGG	SDS	ENSG00000135094.11	transcript	ENST00000257549.9	protein_coding		81		chr12	TogoVar
SDS_chr12_113387445_113408887	113406088	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02647.hp2 HG02683.hp2 HG01891.hp1 HG02647.hp2 HG02683.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0008 a0001c0001 a0001c0007 a0002c0008	a0001c0001t0001 a0001c0007t0001 a0002c0008t0001 a0001c0001t0001 a0001c0007t0001 a0002c0008t0001	a0001c0001t0001g0144 a0001c0007t0001g0075 a0002c0008t0001g0079 a0001c0001t0001g0144 a0001c0007t0001g0075 a0002c0008t0001g0079	3	344	0.0087	18	c.-23 others(29): Show c.-2324_-2323insACACACACACACACACAC	SDS	ENSG00000135094.11	transcript	ENST00000257549.9	protein_coding		2202		chr12	TogoVar
SDS_chr12_113387445_113408887	113406089	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 NA19043.hp1 HG02615.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0066 a0001c0001t0003g0139 a0001c0001t0001g0066 a0001c0001t0003g0139	2	344	0.0058	18	c.-23 others(29): Show c.-2342_-2325dupCACACACACACACACACA	SDS	ENSG00000135094.11	transcript	ENST00000257549.9	protein_coding		2203		chr12	TogoVar
SEC14L1_chr17_77135969_77222101	77191043	A A	ATCCTGGA others(11): Show ATCCTGGAGGGAGAGGGCG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02451.hp2 HG03516.hp2 others(1): Show HG01106.hp1 HG02451.hp2 HG03516.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0074 a0001c0001t0003 a0001c0001t0074	a0001c0001t0003g0110 a0001c0001t0003g0151 a0001c0001t0003g0158 others(1): Show a0001c0001t0003g0110 a0001c0001t0003g0151 a0001c0001t0003g0158 a0001c0001t0074g0192	4	430	0.0093	18	c.214 others(32): Show c.214-109_214-92dupAGAGGGCGTCCTGGAGGG	SEC14L1	ENSG00000129657.16	transcript	ENST00000436233.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEC14L4_chr22_30483902_30510695	30501846	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0256 a0002c0002t0002g0256	1	424	0.0024	18	c.130 others(35): Show c.130+1813_130+1830dupATATATATATATATATAT	SEC14L4	ENSG00000133488.15	transcript	ENST00000255858.12	protein_coding	2/11			chr22	TogoVar
SEC14L4_chr22_30483902_30510695	30504047	A A	ATATTATT others(11): Show ATATTATTATTATTATTAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0234 a0003c0006t0001g0234	1	424	0.0024	18	c.55- others(31): Show c.55-313_55-296dupATAATAATAATAATAATA	SEC14L4	ENSG00000133488.15	transcript	ENST00000255858.12	protein_coding	1/11			chr22	TogoVar
SEC14L5_chr16_4953330_5024157	4963752	C C	CAAGCCAT others(11): Show CAAGCCATCCTCCTGCCTT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18957.hp2 NA19087.hp2 NA18945.hp2 NA18957.hp2 NA19087.hp2	a0001 a0007 a0001 a0007	a0001c0005 a0007c0028 a0001c0005 a0007c0028	a0001c0005t0001 a0007c0028t0001 a0001c0005t0001 a0007c0028t0001	a0001c0005t0001g0015 a0001c0005t0001g0017 a0007c0028t0001g0016 a0001c0005t0001g0015 a0001c0005t0001g0017 a0007c0028t0001g0016	3	376	0.0080	18	c.63+ others(33): Show c.63+4368_63+4385dupAGCCATCCTCCTGCCTTA	SEC14L5	ENSG00000103184.12	transcript	ENST00000251170.12	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
SEC14L6_chr22_30517799_30551741	30528422	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG03239.hp1 HG00323.hp2 HG03239.hp1	a0008 a0008	a0008c0018 a0008c0018	a0008c0018t0016 a0008c0018t0016	a0008c0018t0016g0279 a0008c0018t0016g0285 a0008c0018t0016g0279 a0008c0018t0016g0285	2	396	0.0051	18	c.664 others(33): Show c.664+647_664+664dupAAAAAAAAAAAAAAAAAA	SEC14L6	ENSG00000214491.9	transcript	ENST00000402034.7	protein_coding	8/11			chr22	TogoVar
SEC22A_chr3_123196943_123279136	123220867	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00733.hp2 HG01099.hp1 others(22): Show HG00642.hp2 HG00733.hp2 HG01099.hp1 HG01346.hp2 HG01515.hp2 HG01891.hp1 HG02015.hp2 HG02738.hp1 HG03098.hp2 HG03139.hp1 HG04204.hp2 HG04228.hp2 NA18942.hp2 NA18962.hp2 NA18971.hp2 NA18974.hp2 NA18983.hp1 NA18986.hp2 NA19003.hp2 NA19067.hp1 NA19075.hp1 NA19078.hp2 NA19082.hp1 NA19086.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012	a0001c0001t0002g0026 a0001c0001t0002g0071 a0001c0001t0002g0079 others(22): Show a0001c0001t0002g0026 a0001c0001t0002g0071 a0001c0001t0002g0079 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0097 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0137 a0001c0001t0002g0147 a0001c0001t0002g0154 a0001c0001t0004g0012 a0001c0001t0005g0140 a0001c0001t0012g0104 a0001c0001t0012g0128	25	340	0.0735	18	c.183 others(35): Show c.183-2679_183-2678insTATATATATATATATATA	SEC22A	ENSG00000121542.12	transcript	ENST00000492595.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
SEC22A_chr3_123196943_123279136	123241002	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	340	0.0029	18	c.542 others(35): Show c.542-4873_542-4856dupCACACACACACACACACA	SEC22A	ENSG00000121542.12	transcript	ENST00000492595.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
SEC22A_chr3_123196943_123279136	123269215	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	340	0.0029	18	c.724 others(35): Show c.724-2306_724-2305insGTGTGTGTGTGTGTGTAT	SEC22A	ENSG00000121542.12	transcript	ENST00000492595.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
SEC22B_chr1_120145898_120181520	120163571	C C	CTTTTTTT others(11): Show CTTTTTTTTTTGTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02280.hp1 HG02572.hp2 others(3): Show HG02109.hp1 HG02280.hp1 HG02572.hp2 HG03195.hp1 NA18522.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0040 a0001c0002t0013 a0001c0002t0040	a0001c0002t0013g0020 a0001c0002t0013g0050 a0001c0002t0013g0052 others(1): Show a0001c0002t0013g0020 a0001c0002t0013g0050 a0001c0002t0013g0052 a0001c0002t0040g0051	6	380	0.0158	18	c.186 others(33): Show c.186-202_186-201insAAAAAAACAAAAAAAAAA	SEC22B	ENSG00000265808.4	transcript	ENST00000578049.4	protein_coding	2/4			chr1	TogoVar
SEC22B_chr1_120145898_120181520	120178958	A A	AACACACA others(11): Show AACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	380	0.0026	18	c.-25 others(29): Show c.-2578_-2577insGTGTGTGTGTGTGTGTGT	SEC22B	ENSG00000265808.4	transcript	ENST00000578049.4	protein_coding		2439		chr1	TogoVar
SEC23B_chr20_18502940_18566415	18508716	C C	CTTCTTTT others(11): Show CTTCTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0004 a0007c0009t0004	a0007c0009t0004g0257 a0007c0009t0004g0257	1	410	0.0024	18	c.-15 others(33): Show c.-15+746_-15+747insCTTTTTTTTTTTTTTTTT	SEC23B	ENSG00000101310.17	transcript	ENST00000650089.1	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr20	TogoVar
SEC23B_chr20_18502940_18566415	18518582	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01358.hp2 HG01934.hp1 others(2): Show HG01099.hp1 HG01358.hp2 HG01934.hp1 NA18992.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0112 a0001c0005t0001g0018 a0001c0005t0001g0062 others(1): Show a0001c0001t0001g0112 a0001c0005t0001g0018 a0001c0005t0001g0062 a0001c0005t0001g0063	5	410	0.0122	18	c.366 others(35): Show c.366+2852_366+2869dupTTTTTTTTTTTTTTTTTT	SEC23B	ENSG00000101310.17	transcript	ENST00000650089.1	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr20	TogoVar
SEC24A_chr5_134643785_134732909	134657182	G G	GCACACAC others(11): Show GCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0021 a0004c0005t0001g0021	1	318	0.0031	18	c.98- others(33): Show c.98-3922_98-3905dupCACACACACACACACACA	SEC24A	ENSG00000113615.13	transcript	ENST00000398844.7	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
SEC24B_chr4_109428815_109545896	109482979	T T	TATATATA others(11): Show TATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp2 HG01496.hp2 HG00140.hp2 HG00438.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0177 a0001c0001t0001g0193 a0001c0001t0001g0194	3	222	0.0135	18	c.116 others(37): Show c.1165+1199_1165+1200insTATATATATACACACACA	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(11): Show TATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01943.hp2 HG00639.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0151 a0001c0001t0001g0011 a0001c0001t0001g0151	2	222	0.0090	18	c.116 others(37): Show c.1165+1199_1165+1200insTATATATATATACACACA	SEC24B	ENSG00000138802.11	transcript	ENST00000265175.5	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEC24B_chr4_109428815_109545896	109483034	T T	TTATATAT others(11): Show TTATATATATGTATTTATA	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA19090.hp1 NA18973.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0091 a0001c0001t0002g0212 a0001c0001t0002g0091 a0001c0001t0002g0212	2	222	0.0090	18	c.116 others(37): Show c.1165+1270_1165+1271insATATATATATGTATTTAT	SEC24B	ENSG00000138802.11	transcript	ENST00000265175.5	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEC24D_chr4_118717823_118841126	118804885	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	300	0.0033	18	c.913 others(33): Show c.913+940_913+957dupGTGTGTGTGTGTGTGTGT	SEC24D	ENSG00000150961.15	transcript	ENST00000280551.11	protein_coding	7/22			chr4	TogoVar
SEC24D_chr4_118717823_118841126	118810074	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02602.hp2 NA18939.hp2 NA18983.hp2 others(1): Show HG02602.hp2 NA18939.hp2 NA18983.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0236 a0001c0001t0001g0281 others(1): Show a0001c0001t0001g0191 a0001c0001t0001g0236 a0001c0001t0001g0281 a0001c0001t0001g0288	4	300	0.0133	18	c.802 others(35): Show c.802-4138_802-4121dupCACACACACACACACACA	SEC24D	ENSG00000150961.15	transcript	ENST00000280551.11	protein_coding	6/22			chr4	TogoVar
SEC24D_chr4_118717823_118841126	118810137	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGTGG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03704.hp2 NA18978.hp1 HG02451.hp1 HG03704.hp2 NA18978.hp1	a0001 a0008 a0014 a0001 a0008 a0014	a0001c0002 a0008c0014 a0014c0015 a0001c0002 a0008c0014 a0014c0015	a0001c0002t0001 a0008c0014t0001 a0014c0015t0001 a0001c0002t0001 a0008c0014t0001 a0014c0015t0001	a0001c0002t0001g0060 a0008c0014t0001g0167 a0014c0015t0001g0119 a0001c0002t0001g0060 a0008c0014t0001g0167 a0014c0015t0001g0119	3	300	0.0100	18	c.802 others(35): Show c.802-4184_802-4183insCCACACACACACACACAC	SEC24D	ENSG00000150961.15	transcript	ENST00000280551.11	protein_coding	6/22			chr4	TogoVar
SEC31A_chr4_82813509_82896153	82837158	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	328	0.0031	18	c.296 others(37): Show c.2968+4964_2968+4981dupATATATATATATATATAT	SEC31A	ENSG00000138674.17	transcript	ENST00000395310.7	protein_coding	22/26			chr4	TogoVar
SEC31A_chr4_82813509_82896153	82841442	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00558.hp1 HG00621.hp1 others(13): Show HG00280.hp1 HG00558.hp1 HG00621.hp1 HG00741.hp1 HG01433.hp1 HG02055.hp1 HG02523.hp1 HG03490.hp2 HG03491.hp1 HG04115.hp2 NA18953.hp1 NA18960.hp2 NA18965.hp2 NA18993.hp2 NA19064.hp1 NA19085.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0001c0007 a0005c0016 a0001c0002 a0001c0007 a0005c0016	a0001c0002t0001 a0001c0007t0001 a0005c0016t0001 a0001c0002t0001 a0001c0007t0001 a0005c0016t0001	a0001c0002t0001g0209 a0001c0002t0001g0224 a0001c0002t0001g0226 others(13): Show a0001c0002t0001g0209 a0001c0002t0001g0224 a0001c0002t0001g0226 a0001c0002t0001g0234 a0001c0002t0001g0237 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0244 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0256 a0001c0002t0001g0274 a0001c0002t0001g0279 a0001c0002t0001g0286 a0001c0007t0001g0246 a0005c0016t0001g0005	16	328	0.0488	18	c.296 others(35): Show c.2968+680_2968+697dupTATATATATATATATATA	SEC31A	ENSG00000138674.17	transcript	ENST00000395310.7	protein_coding	22/26			chr4	TogoVar
SEC31A_chr4_82813509_82896153	82846366	C C	CATAATAA others(11): Show CATAATAATAATAATAATA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG04115.hp2 HG02523.hp1 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0256 a0001c0002t0001g0279 a0001c0002t0001g0256 a0001c0002t0001g0279	2	328	0.0061	18	c.250 others(37): Show c.2503-1875_2503-1858dupTATTATTATTATTATTAT	SEC31A	ENSG00000138674.17	transcript	ENST00000395310.7	protein_coding	20/26			chr4	TogoVar
SEC31A_chr4_82813509_82896153	82846366	C C	CATCATAA others(11): Show CATCATAATAATAATAATA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02886.hp2 HG02109.hp1 HG02886.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0312 a0002c0004t0001g0315 a0002c0004t0001g0312 a0002c0004t0001g0315	2	328	0.0061	18	c.250 others(37): Show c.2503-1858_2503-1857insTATTATTATTATTATGAT	SEC31A	ENSG00000138674.17	transcript	ENST00000395310.7	protein_coding	20/26			chr4	TogoVar
SEC31A_chr4_82813509_82896153	82888386	A A	ATATATAT others(11): Show ATATATATATATATACGCG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02630.hp1 HG02572.hp1 HG02630.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0008 a0001c0001 a0009c0008	a0001c0001t0001 a0009c0008t0001 a0001c0001t0001 a0009c0008t0001	a0001c0001t0001g0316 a0009c0008t0001g0317 a0001c0001t0001g0316 a0009c0008t0001g0317	2	328	0.0061	18	c.-5+ others(33): Show c.-5+2701_-5+2702insCGCGTATATATATATATA	SEC31A	ENSG00000138674.17	transcript	ENST00000395310.7	protein_coding	1/26			chr4	TogoVar
SEC61A2_chr10_12124677_12170407	12127557	G G	GCCCCCCC others(11): Show GCCCCCCCCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0232 a0001c0002t0001g0232	1	360	0.0028	18	c.-22 others(29): Show c.-2231_-2230insCCCCCCCCCCCCCCCCCC	SEC61A2	ENSG00000065665.21	transcript	ENST00000298428.14	protein_coding		2119		chr10	TogoVar
SEC63_chr6_107862756_107963208	107863559	T T	TGCACGCG others(11): Show TGCACGCGCGCGCGCGCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp1 HG01981.hp1 HG01993.hp1 HG01952.hp1 HG01981.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0156 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0156	3	332	0.0090	18	c.81 others(29): Show c.8144_*8145insGCGCGCGCGCGCGCGTGC	SEC63	ENSG00000025796.14	transcript	ENST00000369002.9	protein_coding		4196		chr6	TogoVar

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