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
SDHB_chr1_17013722_17059032	17047688	A A	AAAAAAAA others(4): Show AAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	368	0.0027	11	c.73- others(26): Show c.73-2801_73-2800insCTTTTTTTTTT	SDHB	ENSG00000117118.11	transcript	ENST00000375499.8	protein_coding	1/7			chr1	TogoVar
SDHB_chr1_17013722_17059032	17049647	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02647.hp2 HG00741.hp1 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0230 a0001c0002t0001g0309 a0001c0001t0001g0230 a0001c0002t0001g0309	2	368	0.0054	11	c.72+ others(26): Show c.72+4290_72+4300dupAAAAAAAAAAA	SDHB	ENSG00000117118.11	transcript	ENST00000375499.8	protein_coding	1/7			chr1	TogoVar
SDHC_chr1_161309381_161368206	161309552	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	330	0.0030	11	c.-48 others(22): Show c.-4854_-4853insTTTTTTTTTTT	SDHC	ENSG00000143252.16	transcript	ENST00000367975.7	protein_coding		4828		chr1	TogoVar
SDHC_chr1_161309381_161368206	161339662	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0237 a0001c0001t0003g0237	1	330	0.0030	11	c.180 others(26): Show c.180-914_180-904dupTTTTTTTTTTT	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(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00735.hp2 HG01081.hp1 others(13): Show HG00408.hp1 HG00735.hp2 HG01081.hp1 HG01099.hp2 HG02258.hp2 HG02559.hp1 HG02622.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02922.hp2 HG03195.hp2 HG03225.hp1 HG03471.hp2 NA19030.hp1 NA20752.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0006 a0008 a0024	a0001c0017 a0001c0088 a0001c0089 others(10): Show a0001c0017 a0001c0088 a0001c0089 a0001c0092 a0001c0094 a0001c0096 a0002c0009 a0002c0091 a0003c0003 a0003c0081 a0006c0016 a0008c0079 a0024c0095	a0001c0017t0011 a0001c0088t0009 a0001c0089t0009 others(12): Show a0001c0017t0011 a0001c0088t0009 a0001c0089t0009 a0001c0092t0010 a0001c0094t0006 a0001c0096t0029 a0002c0009t0056 a0002c0091t0010 a0003c0003t0003 a0003c0003t0052 a0003c0081t0014 a0006c0016t0001 a0006c0016t0003 a0008c0079t0001 a0024c0095t0025	a0001c0017t0011g0051 a0001c0017t0011g0052 a0001c0088t0009g0054 others(13): Show a0001c0017t0011g0051 a0001c0017t0011g0052 a0001c0088t0009g0054 a0001c0089t0009g0048 a0001c0092t0010g0055 a0001c0094t0006g0053 a0001c0096t0029g0050 a0002c0009t0056g0044 a0002c0091t0010g0047 a0003c0003t0003g0069 a0003c0003t0052g0070 a0003c0081t0014g0078 a0006c0016t0001g0114 a0006c0016t0003g0068 a0008c0079t0001g0074 a0024c0095t0025g0049	16	116	0.1379	11	c.298 others(30): Show c.298+18001_298+18011dupTTTTTTTTTTT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3346827	A A	ATATATAT others(4): Show ATATATATATTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0091 a0002c0091	a0002c0091t0010 a0002c0091t0010	a0002c0091t0010g0047 a0002c0091t0010g0047	1	116	0.0086	11	c.298 others(30): Show c.298+44944_298+44945insATATATATTTT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3346827	A A	ATATATTT others(4): Show ATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01934.hp2 HG02735.hp1 others(1): Show HG00408.hp1 HG01934.hp2 HG02735.hp1 NA20752.hp2	a0002 a0003 a0005 others(1): Show a0002 a0003 a0005 a0006	a0002c0009 a0003c0003 a0005c0057 others(1): Show a0002c0009 a0003c0003 a0005c0057 a0006c0016	a0002c0009t0056 a0003c0003t0003 a0005c0057t0006 others(1): Show a0002c0009t0056 a0003c0003t0003 a0005c0057t0006 a0006c0016t0001	a0002c0009t0056g0044 a0003c0003t0003g0069 a0005c0057t0006g0098 others(1): Show a0002c0009t0056g0044 a0003c0003t0003g0069 a0005c0057t0006g0098 a0006c0016t0001g0114	4	116	0.0345	11	c.298 others(30): Show c.298+44944_298+44945insATATTTTTTTT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3346827	A A	ATATTTTT others(4): Show ATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0017 a0017	a0017c0036 a0017c0036	a0017c0036t0005 a0017c0036t0005	a0017c0036t0005g0058 a0017c0036t0005g0058	1	116	0.0086	11	c.298 others(30): Show c.298+44944_298+44945insATTTTTTTTTT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3418145	G G	GCAAAAAA others(4): Show GCAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02922.hp2 HG02258.hp2 HG02922.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0011 a0001c0017t0011	a0001c0017t0011g0051 a0001c0017t0011g0052 a0001c0017t0011g0051 a0001c0017t0011g0052	2	116	0.0172	11	c.298 others(32): Show c.298+116261_298+116262insCAAAAAAAAAA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3435321	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01243.hp1 HG01243.hp2 others(1): Show HG01167.hp1 HG01243.hp1 HG01243.hp2 HG02809.hp1	a0001 a0009 a0015 others(1): Show a0001 a0009 a0015 a0016	a0001c0008 a0009c0019 a0015c0075 others(1): Show a0001c0008 a0009c0019 a0015c0075 a0016c0046	a0001c0008t0007 a0009c0019t0074 a0015c0075t0042 others(1): Show a0001c0008t0007 a0009c0019t0074 a0015c0075t0042 a0016c0046t0015	a0001c0008t0007g0067 a0009c0019t0074g0009 a0015c0075t0042g0081 others(1): Show a0001c0008t0007g0067 a0009c0019t0074g0009 a0015c0075t0042g0081 a0016c0046t0015g0046	4	116	0.0345	11	c.298 others(32): Show c.298+133454_298+133464dupTTTTTTTTTTT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3573902	G G	GTTTTGTG others(4): Show GTTTTGTGTCCT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02622.hp1 HG02717.hp2 others(3): Show HG02258.hp2 HG02622.hp1 HG02717.hp2 HG02723.hp1 HG02922.hp2 NA19030.hp1	a0001 a0024 a0001 a0024	a0001c0017 a0001c0088 a0001c0094 others(2): Show a0001c0017 a0001c0088 a0001c0094 a0001c0096 a0024c0095	a0001c0017t0011 a0001c0088t0009 a0001c0094t0006 others(2): Show a0001c0017t0011 a0001c0088t0009 a0001c0094t0006 a0001c0096t0029 a0024c0095t0025	a0001c0017t0011g0051 a0001c0017t0011g0052 a0001c0088t0009g0054 others(3): Show a0001c0017t0011g0051 a0001c0017t0011g0052 a0001c0088t0009g0054 a0001c0094t0006g0053 a0001c0096t0029g0050 a0024c0095t0025g0049	6	116	0.0517	11	c.299 others(30): Show c.299-45173_299-45163dupGTGTCCTTTTT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3580984	A A	AAAAAAAA others(4): Show AAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0002 a0001c0038t0002	a0001c0038t0002g0077 a0001c0038t0002g0077	1	116	0.0086	11	c.299 others(30): Show c.299-38095_299-38085dupAAAAAAAAAAC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3644773	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0036 a0036	a0036c0053 a0036c0053	a0036c0053t0032 a0036c0053t0032	a0036c0053t0032g0107 a0036c0053t0032g0107	1	116	0.0086	11	c.713 others(28): Show c.713+2677_713+2687dupAAAAAAAAAAA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3644787	A A	AAAAAAAA others(4): Show AAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01934.hp2 HG01978.hp2 others(15): Show HG01123.hp2 HG01934.hp2 HG01978.hp2 HG02615.hp2 HG02738.hp2 HG02809.hp1 HG02886.hp2 HG02896.hp1 HG03098.hp1 HG03098.hp2 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03491.hp2 HG03688.hp2 HG03710.hp1 HG04228.hp1 NA20752.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0006 a0007	a0001c0002 a0001c0004 a0001c0008 others(14): Show a0001c0002 a0001c0004 a0001c0008 a0001c0035 a0001c0040 a0001c0041 a0001c0047 a0001c0061 a0002c0012 a0002c0031 a0002c0043 a0002c0044 a0004c0048 a0005c0057 a0005c0058 a0006c0078 a0007c0006	a0001c0002t0004 a0001c0004t0005 a0001c0008t0007 others(14): Show a0001c0002t0004 a0001c0004t0005 a0001c0008t0007 a0001c0035t0028 a0001c0040t0050 a0001c0041t0001 a0001c0047t0022 a0001c0061t0041 a0002c0012t0016 a0002c0031t0034 a0002c0043t0002 a0002c0044t0035 a0004c0048t0038 a0005c0057t0006 a0005c0058t0013 a0006c0078t0003 a0007c0006t0001	a0001c0002t0004g0104 a0001c0004t0005g0102 a0001c0008t0007g0067 others(15): Show a0001c0002t0004g0104 a0001c0004t0005g0102 a0001c0008t0007g0067 a0001c0035t0028g0097 a0001c0040t0050g0022 a0001c0041t0001g0040 a0001c0047t0022g0091 a0001c0061t0041g0080 a0002c0012t0016g0002 a0002c0012t0016g0003 a0002c0031t0034g0083 a0002c0043t0002g0105 a0002c0044t0035g0079 a0004c0048t0038g0082 a0005c0057t0006g0098 a0005c0058t0013g0045 a0006c0078t0003g0099 a0007c0006t0001g0036	18	116	0.1552	11	c.713 others(28): Show c.713+2687_713+2688insAAAAACAAAAA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3672795	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA20129.hp2 HG02717.hp1 NA20129.hp2	a0002 a0037 a0002 a0037	a0002c0013 a0037c0074 a0002c0013 a0037c0074	a0002c0013t0064 a0037c0074t0001 a0002c0013t0064 a0037c0074t0001	a0002c0013t0064g0026 a0037c0074t0001g0015 a0002c0013t0064g0026 a0037c0074t0001g0015	2	116	0.0172	11	c.713 others(30): Show c.713+30690_713+30691insTATATATATAT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3938645	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0014 a0014	a0014c0086 a0014c0086	a0014c0086t0043 a0014c0086t0043	a0014c0086t0043g0010 a0014c0086t0043g0010	1	116	0.0086	11	c.848 others(30): Show c.848-12273_848-12263dupAAAAAAAAAAA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	5/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4029228	T T	TTTTTTTT others(4): Show TTTTTTTTTGTG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01891.hp2 HG01934.hp2 others(16): Show HG00735.hp1 HG01891.hp2 HG01934.hp2 HG02145.hp1 HG02559.hp1 HG02559.hp2 HG02630.hp2 HG02647.hp1 HG02809.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp2 HG03041.hp2 HG03195.hp1 HG03225.hp1 HG03453.hp2 NA18906.hp1 NA19030.hp1 NA20300.hp2	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0012 a0020 a0034	a0001c0002 a0001c0008 a0001c0010 others(16): Show a0001c0002 a0001c0008 a0001c0010 a0001c0027 a0001c0032 a0001c0062 a0001c0073 a0001c0089 a0001c0092 a0001c0094 a0002c0013 a0005c0056 a0005c0057 a0005c0058 a0005c0059 a0005c0066 a0012c0015 a0020c0028 a0034c0076	a0001c0002t0040 a0001c0008t0007 a0001c0010t0060 others(16): Show a0001c0002t0040 a0001c0008t0007 a0001c0010t0060 a0001c0027t0002 a0001c0032t0001 a0001c0062t0031 a0001c0073t0065 a0001c0089t0009 a0001c0092t0010 a0001c0094t0006 a0002c0013t0015 a0005c0056t0055 a0005c0057t0006 a0005c0058t0013 a0005c0059t0012 a0005c0066t0037 a0012c0015t0017 a0020c0028t0020 a0034c0076t0008	a0001c0002t0040g0084 a0001c0008t0007g0067 a0001c0010t0060g0017 others(16): Show a0001c0002t0040g0084 a0001c0008t0007g0067 a0001c0010t0060g0017 a0001c0027t0002g0086 a0001c0032t0001g0018 a0001c0062t0031g0100 a0001c0073t0065g0027 a0001c0089t0009g0048 a0001c0092t0010g0055 a0001c0094t0006g0053 a0002c0013t0015g0025 a0005c0056t0055g0021 a0005c0057t0006g0098 a0005c0058t0013g0045 a0005c0059t0012g0063 a0005c0066t0037g0065 a0012c0015t0017g0066 a0020c0028t0020g0087 a0034c0076t0008g0016	19	116	0.1638	11	c.260 others(32): Show c.2602+11877_2602+11878insTTTTTTTGTGT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	17/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4029228	T T	TTTTTTTT others(4): Show TTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0011 a0011	a0011c0022 a0011c0022	a0011c0022t0072 a0011c0022t0072	a0011c0022t0072g0007 a0011c0022t0072g0007	1	116	0.0086	11	c.260 others(32): Show c.2602+11877_2602+11878insTTTTTTTTTGT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	17/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4063599	A A	AAAAAAAA others(4): Show AAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01891.hp2 HG01934.hp2 others(9): Show HG00735.hp1 HG01891.hp2 HG01934.hp2 HG02559.hp1 HG02647.hp1 HG02809.hp1 HG02896.hp2 HG02897.hp2 HG03195.hp1 HG03225.hp1 HG03453.hp2 NA19030.hp1	a0001 a0005 a0012 a0001 a0005 a0012	a0001c0008 a0001c0010 a0001c0089 others(8): Show a0001c0008 a0001c0010 a0001c0089 a0001c0092 a0001c0094 a0005c0056 a0005c0057 a0005c0058 a0005c0059 a0005c0066 a0012c0015	a0001c0008t0007 a0001c0010t0060 a0001c0089t0009 others(8): Show a0001c0008t0007 a0001c0010t0060 a0001c0089t0009 a0001c0092t0010 a0001c0094t0006 a0005c0056t0055 a0005c0057t0006 a0005c0058t0013 a0005c0059t0012 a0005c0066t0037 a0012c0015t0017	a0001c0008t0007g0067 a0001c0010t0060g0017 a0001c0089t0009g0048 others(9): Show a0001c0008t0007g0067 a0001c0010t0060g0017 a0001c0089t0009g0048 a0001c0092t0010g0055 a0001c0094t0006g0053 a0005c0056t0055g0021 a0005c0057t0006g0098 a0005c0058t0013g0045 a0005c0059t0012g0063 a0005c0066t0037g0065 a0012c0015t0017g0059 a0012c0015t0017g0066	12	116	0.1035	11	c.291 others(30): Show c.2912-4232_2912-4222dupAAAACAAAAAA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	19/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4074912	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0062 a0001c0062	a0001c0062t0031 a0001c0062t0031	a0001c0062t0031g0100 a0001c0062t0031g0100	1	116	0.0086	11	c.301 others(30): Show c.3011-2085_3011-2084insTTTTTTTTTTT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	20/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4091334	C C	CTTTTCTT others(4): Show CTTTTCTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0011 a0001c0017t0011	a0001c0017t0011g0052 a0001c0017t0011g0052	1	116	0.0086	11	c.332 others(32): Show c.3324+11754_3324+11755insCTTTTTTTTTT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	22/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4091335	T T	TTTTCTTT others(4): Show TTTTCTTTTTTC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00738.hp1 HG01081.hp2 others(24): Show HG00408.hp2 HG00738.hp1 HG01081.hp2 HG01167.hp1 HG01175.hp1 HG01243.hp1 HG02145.hp2 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02965.hp1 HG02965.hp2 HG03098.hp2 HG03139.hp2 HG03225.hp1 HG03453.hp1 NA19030.hp2 NA20129.hp1	a0001 a0002 a0009 others(9): Show a0001 a0002 a0009 a0010 a0011 a0013 a0015 a0022 a0023 a0024 a0026 a0035	a0001c0008 a0001c0010 a0001c0011 others(22): Show a0001c0008 a0001c0010 a0001c0011 a0001c0032 a0001c0038 a0001c0089 a0001c0093 a0002c0009 a0002c0012 a0002c0013 a0002c0044 a0002c0054 a0002c0055 a0009c0019 a0009c0020 a0010c0080 a0010c0083 a0011c0021 a0013c0071 a0015c0075 a0022c0064 a0023c0069 a0024c0095 a0026c0023 a0035c0052	a0001c0008t0007 a0001c0010t0060 a0001c0011t0008 others(23): Show a0001c0008t0007 a0001c0010t0060 a0001c0011t0008 a0001c0032t0001 a0001c0038t0002 a0001c0089t0009 a0001c0093t0048 a0002c0009t0004 a0002c0009t0056 a0002c0012t0016 a0002c0013t0064 a0002c0044t0035 a0002c0054t0067 a0002c0055t0002 a0009c0019t0074 a0009c0020t0070 a0010c0080t0054 a0010c0083t0001 a0011c0021t0073 a0013c0071t0026 a0015c0075t0042 a0022c0064t0007 a0023c0069t0014 a0024c0095t0025 a0026c0023t0030 a0035c0052t0062	a0001c0008t0007g0067 a0001c0010t0060g0017 a0001c0011t0008g0028 others(24): Show a0001c0008t0007g0067 a0001c0010t0060g0017 a0001c0011t0008g0028 a0001c0032t0001g0018 a0001c0038t0002g0077 a0001c0089t0009g0048 a0001c0093t0048g0057 a0002c0009t0004g0093 a0002c0009t0056g0044 a0002c0012t0016g0002 a0002c0012t0016g0003 a0002c0013t0064g0026 a0002c0044t0035g0079 a0002c0054t0067g0034 a0002c0055t0002g0101 a0009c0019t0074g0009 a0009c0020t0070g0008 a0010c0080t0054g0073 a0010c0083t0001g0076 a0011c0021t0073g0006 a0013c0071t0026g0112 a0015c0075t0042g0081 a0022c0064t0007g0106 a0023c0069t0014g0014 a0024c0095t0025g0049 a0026c0023t0030g0113 a0035c0052t0062g0019	27	116	0.2328	11	c.332 others(32): Show c.3324+11754_3324+11755insCTTTTTTCTTT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	22/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4192276	T T	TTTGTTTG others(4): Show TTTGTTTGTTTG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02976.hp1 HG03041.hp1 others(1): Show HG01243.hp2 HG02976.hp1 HG03041.hp1 NA20129.hp1	a0001 a0016 a0027 a0001 a0016 a0027	a0001c0038 a0001c0072 a0016c0046 others(1): Show a0001c0038 a0001c0072 a0016c0046 a0027c0082	a0001c0038t0002 a0001c0072t0057 a0016c0046t0015 others(1): Show a0001c0038t0002 a0001c0072t0057 a0016c0046t0015 a0027c0082t0008	a0001c0038t0002g0077 a0001c0072t0057g0031 a0016c0046t0015g0046 others(1): Show a0001c0038t0002g0077 a0001c0072t0057g0031 a0016c0046t0015g0046 a0027c0082t0008g0075	4	116	0.0345	11	c.509 others(32): Show c.5099-13597_5099-13596insGTTTGTTGTTT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	35/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK2_chr17_73329384_73649445	73375874	A A	ATAAAATA others(4): Show ATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02683.hp2 HG02698.hp2 others(7): Show HG02165.hp2 HG02683.hp2 HG02698.hp2 HG04228.hp1 HG04228.hp2 NA18942.hp1 NA18944.hp1 NA18993.hp1 NA18993.hp2 NA19066.hp1	a0001 a0002 a0026 others(1): Show a0001 a0002 a0026 a0027	a0001c0001 a0001c0005 a0001c0009 others(7): Show a0001c0001 a0001c0005 a0001c0009 a0001c0094 a0001c0110 a0001c0112 a0002c0028 a0002c0029 a0026c0114 a0027c0091	a0001c0001t0015 a0001c0005t0078 a0001c0009t0006 others(7): Show a0001c0001t0015 a0001c0005t0078 a0001c0009t0006 a0001c0094t0005 a0001c0110t0049 a0001c0112t0002 a0002c0028t0062 a0002c0029t0003 a0026c0114t0001 a0027c0091t0008	a0001c0001t0015g0072 a0001c0005t0078g0100 a0001c0009t0006g0053 others(7): Show a0001c0001t0015g0072 a0001c0005t0078g0100 a0001c0009t0006g0053 a0001c0094t0005g0089 a0001c0110t0049g0011 a0001c0112t0002g0118 a0002c0028t0062g0024 a0002c0029t0003g0078 a0026c0114t0001g0136 a0027c0091t0008g0182	10	204	0.0490	11	c.498 others(30): Show c.4980+3302_4980+3303insATTTTATTTTA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	36/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73416199	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG03486.hp2 HG01175.hp2 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0017 a0002c0031 a0001c0017 a0002c0031	a0001c0017t0008 a0002c0031t0006 a0001c0017t0008 a0002c0031t0006	a0001c0017t0008g0156 a0002c0031t0006g0157 a0001c0017t0008g0156 a0002c0031t0006g0157	2	204	0.0098	11	c.218 others(28): Show c.2187-218_2187-208dupAAAAAAAAAAA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	16/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73426208	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp2 HG02300.hp2 others(4): Show HG01175.hp1 HG01175.hp2 HG02300.hp2 HG03688.hp2 NA18944.hp1 NA18990.hp2 NA19088.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0004 a0002c0020 a0002c0028 others(3): Show a0001c0004 a0002c0020 a0002c0028 a0002c0029 a0002c0031 a0009c0116	a0001c0004t0010 a0002c0020t0026 a0002c0028t0062 others(3): Show a0001c0004t0010 a0002c0020t0026 a0002c0028t0062 a0002c0029t0045 a0002c0031t0006 a0009c0116t0064	a0001c0004t0010g0021 a0002c0020t0026g0107 a0002c0028t0062g0024 others(4): Show a0001c0004t0010g0021 a0002c0020t0026g0107 a0002c0028t0062g0024 a0002c0029t0045g0081 a0002c0031t0006g0121 a0002c0031t0006g0157 a0009c0116t0064g0023	7	204	0.0343	11	c.158 others(30): Show c.1584-2127_1584-2117dupAAAAAAAAAAA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	12/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73509902	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0051 a0001c0051	a0001c0051t0007 a0001c0051t0007	a0001c0051t0007g0056 a0001c0051t0007g0056	1	204	0.0049	11	c.65- others(26): Show c.65-2316_65-2306dupTTTTTTTTTTT	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	1/44			chr17	TogoVar
SDSL_chr12_113417380_113443276	113421991	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01943.hp2 HG02109.hp2 others(15): Show HG01243.hp2 HG01943.hp2 HG02109.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02818.hp1 HG03225.hp2 HG03540.hp2 HG03579.hp1 NA18942.hp2 NA18950.hp2 NA18979.hp1 NA18981.hp2 NA19084.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0004c0010 others(1): Show a0001c0001 a0001c0004 a0004c0010 a0004c0011	a0001c0001t0001 a0001c0004t0001 a0001c0004t0002 others(2): Show a0001c0001t0001 a0001c0004t0001 a0001c0004t0002 a0004c0010t0001 a0004c0011t0001	a0001c0001t0001g0012 a0001c0001t0001g0037 a0001c0001t0001g0038 others(14): Show a0001c0001t0001g0012 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0004t0001g0045 a0001c0004t0002g0036 a0001c0004t0002g0052 a0001c0004t0002g0053 a0004c0010t0001g0047 a0004c0011t0001g0044	18	298	0.0604	11	c.-50 others(20): Show c.-508_-507insAAAAAAAAAAA	SDSL	ENSG00000139410.15	transcript	ENST00000403593.9	protein_coding		388		chr12	TogoVar
SDSL_chr12_113417380_113443276	113432265	T T	TTTCTTTT others(4): Show TTTCTTTTTTTC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	298	0.0034	11	c.355 others(28): Show c.355-1863_355-1862insTTTTCTTCTTT	SDSL	ENSG00000139410.15	transcript	ENST00000403593.9	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
SDS_chr12_113387445_113408887	113396486	T T	TCTCTTTC others(4): Show TCTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01243.hp1 HG01361.hp1 others(46): Show HG01168.hp2 HG01243.hp1 HG01361.hp1 HG01496.hp2 HG01891.hp1 HG02015.hp1 HG02040.hp2 HG02055.hp2 HG02080.hp1 HG02083.hp1 HG02155.hp2 HG02300.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02723.hp2 HG02818.hp1 HG02896.hp1 HG03209.hp1 HG03471.hp2 HG03486.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG06807.hp1 NA18942.hp2 NA18950.hp2 NA18979.hp2 NA18981.hp1 NA18990.hp1 NA18991.hp1 NA19002.hp1 NA19005.hp1 NA19009.hp2 NA19011.hp1 NA19043.hp1 NA19059.hp1 NA19062.hp1 NA19077.hp1 NA19080.hp2 NA19081.hp2 NA19084.hp1 NA19090.hp2 NA20129.hp1 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0007 others(2): Show a0001c0001 a0001c0003 a0001c0007 a0002c0009 a0004c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0003t0001 a0001c0007t0001 a0002c0009t0001 a0004c0008t0001	a0001c0001t0001g0006 a0001c0001t0001g0017 a0001c0001t0001g0018 others(27): Show a0001c0001t0001g0006 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0053 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0075 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0008g0154 a0001c0003t0001g0059 a0001c0007t0001g0074 a0002c0009t0001g0078 a0004c0008t0001g0160	49	344	0.1424	11	c.653 others(26): Show c.653+678_653+679insGAAAGAAAGAG	SDS	ENSG00000135094.11	transcript	ENST00000257549.9	protein_coding	6/7			chr12	TogoVar
SDS_chr12_113387445_113408887	113408396	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0059 a0001c0003t0001g0059	1	344	0.0029	11	c.-46 others(22): Show c.-4642_-4632dupAAAAAAAAAAA	SDS	ENSG00000135094.11	transcript	ENST00000257549.9	protein_coding		4510		chr12	TogoVar
SEC11A_chr15_84664544_84721139	84692951	T T	TCCTCCCA others(4): Show TCCTCCCACTTC	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	320	0.0031	11	c.52- others(26): Show c.52-1318_52-1308dupGAAGTGGGAGG	SEC11A	ENSG00000140612.14	transcript	ENST00000268220.12	protein_coding	1/5			chr15	TogoVar
SEC11A_chr15_84664544_84721139	84700593	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	320	0.0031	11	c.52- others(26): Show c.52-8960_52-8950dupTTTTTTTTTTT	SEC11A	ENSG00000140612.14	transcript	ENST00000268220.12	protein_coding	1/5			chr15	TogoVar
SEC11C_chr18_59134884_59163832	59143857	T T	TTTTCTTT others(4): Show TTTTCTTTTTTC	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	444	0.0023	11	c.87+ others(26): Show c.87+3825_87+3826insCTTTTTTCTTT	SEC11C	ENSG00000166562.9	transcript	ENST00000587834.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SEC14L2_chr22_30392018_30430303	30411742	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00544.hp1 others(123): Show HG00099.hp1 HG00099.hp2 HG00544.hp1 HG00597.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01074.hp2 HG01099.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01358.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01943.hp2 HG02004.hp2 HG02027.hp1 HG02055.hp1 HG02056.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02258.hp2 HG02293.hp2 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03579.hp1 HG03688.hp1 HG03704.hp1 HG03831.hp1 HG03927.hp2 HG03942.hp1 HG04204.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18952.hp1 NA18952.hp2 NA18956.hp2 NA18959.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18969.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18997.hp1 NA18997.hp2 NA19003.hp1 NA19005.hp2 NA19009.hp1 NA19030.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp2 NA19057.hp2 NA19060.hp2 NA19062.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19074.hp2 NA19077.hp2 NA19081.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA19089.hp1 NA19089.hp2 NA19240.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0002c0002 a0004c0005 others(1): Show a0001c0001 a0002c0002 a0004c0005 a0006c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(14): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0018 a0001c0001t0033 a0002c0002t0002 a0002c0002t0004 a0002c0002t0009 a0002c0002t0013 a0002c0002t0017 a0002c0002t0020 a0002c0002t0022 a0002c0002t0032 a0004c0005t0001 a0006c0008t0015	a0001c0001t0001g0005 a0001c0001t0001g0050 a0001c0001t0001g0143 others(102): Show a0001c0001t0001g0005 a0001c0001t0001g0050 a0001c0001t0001g0143 a0001c0001t0001g0239 a0001c0001t0001g0247 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0271 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0290 a0001c0001t0001g0295 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0003g0015 a0001c0001t0003g0033 a0001c0001t0003g0038 a0001c0001t0003g0155 a0001c0001t0003g0162 a0001c0001t0003g0166 a0001c0001t0003g0174 a0001c0001t0003g0177 a0001c0001t0005g0224 a0001c0001t0005g0225 a0001c0001t0005g0227 a0001c0001t0005g0228 a0001c0001t0005g0230 a0001c0001t0005g0231 a0001c0001t0005g0233 a0001c0001t0005g0234 a0001c0001t0007g0052 a0001c0001t0007g0053 a0001c0001t0007g0291 a0001c0001t0007g0293 a0001c0001t0007g0294 a0001c0001t0011g0246 a0001c0001t0018g0235 a0001c0001t0033g0241 a0002c0002t0002g0007 a0002c0002t0002g0024 a0002c0002t0002g0026 a0002c0002t0002g0029 a0002c0002t0002g0061 a0002c0002t0002g0066 a0002c0002t0002g0077 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0095 a0002c0002t0002g0098 a0002c0002t0002g0105 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0123 a0002c0002t0002g0133 a0002c0002t0002g0134 a0002c0002t0002g0139 a0002c0002t0002g0141 a0002c0002t0002g0209 a0002c0002t0002g0213 a0002c0002t0002g0214 a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0002g0220 a0002c0002t0004g0013 a0002c0002t0004g0014 a0002c0002t0004g0067 a0002c0002t0004g0068 a0002c0002t0004g0069 a0002c0002t0004g0074 a0002c0002t0004g0076 a0002c0002t0004g0100 a0002c0002t0004g0101 a0002c0002t0004g0106 a0002c0002t0004g0107 a0002c0002t0004g0112 a0002c0002t0004g0113 a0002c0002t0004g0114 a0002c0002t0004g0116 a0002c0002t0004g0117 a0002c0002t0004g0118 a0002c0002t0004g0125 a0002c0002t0004g0126 a0002c0002t0009g0022 a0002c0002t0009g0144 a0002c0002t0013g0104 a0002c0002t0013g0108 a0002c0002t0017g0308 a0002c0002t0020g0211 a0002c0002t0022g0146 a0002c0002t0032g0148 a0004c0005t0001g0288 a0006c0008t0015g0005	126	420	0.3000	11	c.664 others(28): Show c.664+1072_664+1082dupAAAAAAAAAAA	SEC14L2	ENSG00000100003.18	transcript	ENST00000615189.5	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEC14L2_chr22_30392018_30430303	30416763	G G	GCTGGTGG others(4): Show GCTGGTGGGCAT	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0085 a0002c0002t0002g0085	1	420	0.0024	11	c.108 others(28): Show c.1081+360_1081+361insCTGGTGGGCAT	SEC14L2	ENSG00000100003.18	transcript	ENST00000615189.5	protein_coding	11/11			chr22	TogoVar
SEC14L4_chr22_30483902_30510695	30500754	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0005 a0001c0009t0005	a0001c0009t0005g0134 a0001c0009t0005g0134	1	424	0.0024	11	c.130 others(28): Show c.130+2912_130+2922dupAAAAAAAAAAA	SEC14L4	ENSG00000133488.15	transcript	ENST00000255858.12	protein_coding	2/11			chr22	TogoVar
SEC14L5_chr16_4953330_5024157	4968915	A A	AATTTAGC others(4): Show AATTTAGCCAAT	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	376	0.0027	11	c.63+ others(26): Show c.63+9530_63+9540dupATTTAGCCAAT	SEC14L5	ENSG00000103184.12	transcript	ENST00000251170.12	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
SEC14L6_chr22_30517799_30551741	30528422	C C	CCTTTTTT others(4): Show CCTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01358.hp1 HG03516.hp1 others(4): Show HG01192.hp1 HG01358.hp1 HG03516.hp1 HG03516.hp2 HG03688.hp2 NA18967.hp2 NA19084.hp1	a0001 a0001	a0001c0003 a0001c0014 a0001c0003 a0001c0014	a0001c0003t0003 a0001c0003t0014 a0001c0003t0036 others(1): Show a0001c0003t0003 a0001c0003t0014 a0001c0003t0036 a0001c0014t0026	a0001c0003t0003g0163 a0001c0003t0003g0164 a0001c0003t0003g0165 others(4): Show a0001c0003t0003g0163 a0001c0003t0003g0164 a0001c0003t0003g0165 a0001c0003t0003g0167 a0001c0003t0014g0066 a0001c0003t0036g0284 a0001c0014t0026g0149	7	396	0.0177	11	c.664 others(26): Show c.664+664_664+665insAAAAAAAAAAG	SEC14L6	ENSG00000214491.9	transcript	ENST00000402034.7	protein_coding	8/11			chr22	TogoVar
SEC14L6_chr22_30517799_30551741	30528422	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01168.hp1 HG02615.hp1 others(14): Show HG00140.hp1 HG01168.hp1 HG02615.hp1 HG02647.hp2 HG03041.hp1 HG03471.hp1 HG04115.hp2 HG04199.hp1 HG06807.hp1 NA18951.hp1 NA18964.hp1 NA18986.hp1 NA19004.hp1 NA19006.hp2 NA19058.hp2 NA19091.hp2 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0008 a0001c0016 others(1): Show a0001c0001 a0001c0008 a0001c0016 a0003c0017	a0001c0001t0004 a0001c0008t0005 a0001c0008t0032 others(2): Show a0001c0001t0004 a0001c0008t0005 a0001c0008t0032 a0001c0016t0004 a0003c0017t0004	a0001c0001t0004g0013 a0001c0001t0004g0014 a0001c0001t0004g0036 others(9): Show a0001c0001t0004g0013 a0001c0001t0004g0014 a0001c0001t0004g0036 a0001c0001t0004g0112 a0001c0001t0004g0179 a0001c0001t0004g0184 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0008t0005g0088 a0001c0008t0032g0278 a0001c0016t0004g0177 a0003c0017t0004g0181	17	396	0.0429	11	c.664 others(26): Show c.664+654_664+664dupAAAAAAAAAAA	SEC14L6	ENSG00000214491.9	transcript	ENST00000402034.7	protein_coding	8/11			chr22	TogoVar
SEC16A_chr9_136435105_136488040	136452449	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01069.hp1 HG01109.hp2 others(10): Show HG00733.hp2 HG01069.hp1 HG01109.hp2 HG02300.hp1 HG02486.hp2 HG02895.hp2 HG02897.hp1 HG03669.hp2 HG04204.hp1 NA18966.hp1 NA18975.hp1 NA18984.hp1 NA19066.hp1	a0002 a0022 a0029 a0002 a0022 a0029	a0002c0003 a0002c0037 a0022c0038 others(1): Show a0002c0003 a0002c0037 a0022c0038 a0029c0035	a0002c0003t0003 a0002c0037t0003 a0022c0038t0003 others(1): Show a0002c0003t0003 a0002c0037t0003 a0022c0038t0003 a0029c0035t0003	a0002c0003t0003g0026 a0002c0003t0003g0220 a0002c0003t0003g0221 others(9): Show a0002c0003t0003g0026 a0002c0003t0003g0220 a0002c0003t0003g0221 a0002c0003t0003g0223 a0002c0003t0003g0235 a0002c0003t0003g0238 a0002c0003t0003g0239 a0002c0003t0003g0245 a0002c0003t0003g0247 a0002c0037t0003g0227 a0022c0038t0003g0249 a0029c0035t0003g0232	13	306	0.0425	11	c.615 others(28): Show c.6159+968_6159+978dupTTTTTTTTTTT	SEC16A	ENSG00000148396.19	transcript	ENST00000684901.1	protein_coding	22/31			chr9	TogoVar
SEC16A_chr9_136435105_136488040	136452477	A A	AAAAAAAA others(4): Show AAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0244 a0002c0003t0003g0244	1	306	0.0033	11	c.615 others(28): Show c.6159+950_6159+951insCTTTTTTTTTT	SEC16A	ENSG00000148396.19	transcript	ENST00000684901.1	protein_coding	22/31			chr9	TogoVar
SEC22A_chr3_123196943_123279136	123260131	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03540.hp2 HG02280.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0199 a0001c0001t0005g0125 a0001c0001t0001g0199 a0001c0001t0005g0125	2	340	0.0059	11	c.723 others(26): Show c.723+570_723+580dupAAAAAAAAAAA	SEC22A	ENSG00000121542.12	transcript	ENST00000492595.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
SEC23A_chr14_39026919_39108235	39059278	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0081 a0001c0003t0001g0081	1	366	0.0027	11	c.150 others(30): Show c.1505+2476_1505+2486dupTTTTTTTTTTT	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	13/19			chr14	TogoVar
SEC23A_chr14_39026919_39108235	39081530	A A	ACAAATAC others(4): Show ACAAATACTGGG	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0238 a0002c0002t0001g0238	1	366	0.0027	11	c.828 others(28): Show c.828+4221_828+4231dupCCCAGTATTTG	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	7/19			chr14	TogoVar
SEC23A_chr14_39026919_39108235	39083563	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00621.hp1 HG01081.hp2 others(65): Show HG00408.hp1 HG00621.hp1 HG01081.hp2 HG01175.hp2 HG01358.hp1 HG01515.hp1 HG01891.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02135.hp2 HG02148.hp2 HG02300.hp1 HG02602.hp1 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02922.hp1 HG03195.hp1 HG03453.hp1 HG03540.hp1 HG03579.hp2 HG03942.hp2 NA18941.hp1 NA18942.hp2 NA18943.hp1 NA18953.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18971.hp1 NA18972.hp1 NA18974.hp2 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18984.hp2 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18999.hp2 NA19000.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp2 NA19010.hp1 NA19012.hp2 NA19054.hp1 NA19056.hp2 NA19058.hp1 NA19060.hp2 NA19065.hp1 NA19067.hp1 NA19068.hp1 NA19074.hp1 NA19077.hp2 NA19080.hp2 NA19081.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 others(3): Show a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0002c0002t0001 a0002c0002t0004 a0002c0002t0007	a0001c0001t0001g0014 a0001c0001t0001g0031 a0001c0001t0001g0352 others(65): Show a0001c0001t0001g0014 a0001c0001t0001g0031 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0003t0001g0045 a0001c0003t0001g0048 a0001c0003t0001g0053 a0001c0003t0001g0054 a0001c0003t0001g0066 a0001c0003t0001g0087 a0001c0003t0001g0096 a0001c0003t0001g0108 a0001c0003t0001g0115 a0001c0003t0001g0178 a0001c0003t0001g0239 a0001c0004t0001g0006 a0001c0004t0001g0007 a0001c0004t0001g0008 a0002c0002t0001g0010 a0002c0002t0001g0150 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0186 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0195 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0213 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0242 a0002c0002t0001g0300 a0002c0002t0004g0189 a0002c0002t0007g0187	68	366	0.1858	11	c.828 others(28): Show c.828+2188_828+2198dupAAAAAAAAAAA	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	7/19			chr14	TogoVar
SEC23B_chr20_18502940_18566415	18518582	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0004 a0007c0009t0004	a0007c0009t0004g0257 a0007c0009t0004g0257	1	410	0.0024	11	c.366 others(28): Show c.366+2859_366+2869dupTTTTTTTTTTT	SEC23B	ENSG00000101310.17	transcript	ENST00000650089.1	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr20	TogoVar
SEC24A_chr5_134643785_134732909	134699301	C C	CGTTTTTT others(4): Show CGTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19004.hp2 NA19000.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0006 a0001c0007t0006 a0001c0001t0006 a0001c0007t0006	a0001c0001t0006g0048 a0001c0007t0006g0051 a0001c0001t0006g0048 a0001c0007t0006g0051	2	318	0.0063	11	c.226 others(30): Show c.2266+1244_2266+1245insGTTTTTTTTTT	SEC24A	ENSG00000113615.13	transcript	ENST00000398844.7	protein_coding	15/22			chr5	TogoVar
SEC24C_chr10_73739372_73777161	73758953	T T	TGGTAGAC others(4): Show TGGTAGACTGTG	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0096 a0001c0002t0002g0096	1	322	0.0031	11	c.309 others(26): Show c.309-660_309-659insTGGGTAGACTG	SEC24C	ENSG00000176986.16	transcript	ENST00000345254.9	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr10	TogoVar
SEC24C_chr10_73739372_73777161	73763667	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18971.hp2 NA18987.hp2 NA18612.hp1 NA18971.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0226 a0001c0001t0001g0045 a0001c0001t0001g0226	3	322	0.0093	11	c.109 others(26): Show c.1099+88_1099+98dupTTTTTTTTTTT	SEC24C	ENSG00000176986.16	transcript	ENST00000345254.9	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr10	TogoVar

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