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	3578262	CATTAAGG others(13): Show CATTAAGGATTTTATTAAGGA	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0027 a0027	a0027c0089 a0027c0089	a0027c0089t0047 a0027c0089t0047	a0027c0089t0047g0056 a0027c0089t0047g0056	1	116	0.0086	-20	c.299 others(39): Show c.299-40817_299-40798delATTAAGGATTTTATTAAGGA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3578263	ATTAAGGA others(13): Show ATTAAGGATTTTATTAAGGAT	A A	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0030 a0030	a0030c0086 a0030c0086	a0030c0086t0046 a0030c0086t0046	a0030c0086t0046g0012 a0030c0086t0046g0012	1	116	0.0086	-20	c.299 others(39): Show c.299-40815_299-40796delTAAGGATTTTATTAAGGATT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3655448	AATATATA others(13): Show AATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01167.hp1 HG01243.hp1 others(8): Show HG00735.hp2 HG01167.hp1 HG01243.hp1 HG01934.hp1 HG02615.hp1 HG02965.hp1 HG02965.hp2 HG03139.hp1 HG03139.hp2 HG03516.hp2 HG03710.hp2	a0001 a0003 a0004 others(5): Show a0001 a0003 a0004 a0007 a0009 a0015 a0024 a0028	a0001c0031 a0001c0062 a0001c0067 others(8): Show a0001c0031 a0001c0062 a0001c0067 a0003c0001 a0004c0003 a0007c0044 a0009c0019 a0009c0020 a0015c0074 a0024c0023 a0028c0018	a0001c0031t0001 a0001c0062t0053 a0001c0067t0068 others(8): Show a0001c0031t0001 a0001c0062t0053 a0001c0067t0068 a0003c0001t0066 a0004c0003t0052 a0007c0044t0001 a0009c0019t0074 a0009c0020t0070 a0015c0074t0042 a0024c0023t0030 a0028c0018t0071	a0001c0031t0001g0018 a0001c0062t0053g0042 a0001c0067t0068g0001 others(8): Show a0001c0031t0001g0018 a0001c0062t0053g0042 a0001c0067t0068g0001 a0003c0001t0066g0041 a0004c0003t0052g0069 a0007c0044t0001g0020 a0009c0019t0074g0006 a0009c0020t0070g0009 a0015c0074t0042g0081 a0024c0023t0030g0113 a0028c0018t0071g0005	11	58	0.1897	-20	c.713 others(39): Show c.713+13380_713+13399delATATATATATATATATATAT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3655485	ATATATAT others(13): Show ATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0096 a0001c0002t0002g0096	1	115	0.0087	-20	c.713 others(39): Show c.713+13384_713+13403delATATATATATATATATGTAT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3705425	GATTTTAT others(13): Show GATTTTATTTTATTTTATTTT	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02723.hp1 HG03688.hp1 HG02717.hp2 HG02723.hp1 HG03688.hp1	a0001 a0022 a0030 a0001 a0022 a0030	a0001c0095 a0022c0094 a0030c0086 a0001c0095 a0022c0094 a0030c0086	a0001c0095t0029 a0022c0094t0025 a0030c0086t0046 a0001c0095t0029 a0022c0094t0025 a0030c0086t0046	a0001c0095t0029g0050 a0022c0094t0025g0049 a0030c0086t0046g0012 a0001c0095t0029g0050 a0022c0094t0025g0049 a0030c0086t0046g0012	3	23	0.1304	-20	c.713 others(39): Show c.713+63371_713+63390delATTTTATTTTATTTTATTTT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3718521	CAATAAAT others(13): Show CAATAAATAAATAAATAAATA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp2 HG00639.hp1 others(41): Show HG00408.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp2 HG01081.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01175.hp1 HG01243.hp1 HG01361.hp1 HG01516.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02735.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp2 HG03688.hp2 NA18906.hp2 NA19043.hp1 NA20129.hp2 NA20300.hp2	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0011 a0013 a0015 a0017 a0018 a0019 a0024 a0035	a0001c0004 a0001c0005 a0001c0007 others(35): Show a0001c0004 a0001c0005 a0001c0007 a0001c0010 a0001c0011 a0001c0014 a0001c0025 a0001c0026 a0001c0027 a0001c0038 a0001c0040 a0001c0060 a0001c0061 a0001c0067 a0001c0072 a0002c0012 a0002c0066 a0002c0090 a0003c0001 a0003c0047 a0004c0003 a0004c0080 a0005c0057 a0005c0058 a0006c0077 a0007c0006 a0009c0019 a0009c0020 a0010c0079 a0010c0082 a0011c0022 a0013c0070 a0015c0074 a0017c0035 a0018c0024 a0019c0050 a0024c0023 a0035c0073	a0001c0004t0001 a0001c0005t0001 a0001c0005t0051 others(40): Show a0001c0004t0001 a0001c0005t0001 a0001c0005t0051 a0001c0007t0003 a0001c0010t0002 a0001c0010t0060 a0001c0011t0039 a0001c0014t0018 a0001c0025t0024 a0001c0026t0002 a0001c0027t0020 a0001c0038t0013 a0001c0040t0001 a0001c0060t0041 a0001c0061t0031 a0001c0067t0068 a0001c0072t0065 a0002c0012t0016 a0002c0066t0023 a0002c0090t0010 a0003c0001t0059 a0003c0001t0063 a0003c0001t0066 a0003c0047t0038 a0004c0003t0003 a0004c0003t0052 a0004c0080t0014 a0005c0057t0013 a0005c0058t0012 a0006c0077t0003 a0007c0006t0012 a0009c0019t0074 a0009c0020t0070 a0010c0079t0054 a0010c0082t0001 a0011c0022t0072 a0013c0070t0026 a0015c0074t0042 a0017c0035t0005 a0018c0024t0061 a0019c0050t0019 a0024c0023t0030 a0035c0073t0001	a0001c0004t0001g0039 a0001c0005t0001g0025 a0001c0005t0051g0030 others(41): Show a0001c0004t0001g0039 a0001c0005t0001g0025 a0001c0005t0051g0030 a0001c0007t0003g0032 a0001c0010t0002g0085 a0001c0010t0060g0017 a0001c0011t0039g0061 a0001c0014t0018g0062 a0001c0025t0024g0089 a0001c0026t0002g0086 a0001c0027t0020g0087 a0001c0038t0013g0038 a0001c0040t0001g0040 a0001c0060t0041g0080 a0001c0061t0031g0100 a0001c0067t0068g0001 a0001c0072t0065g0027 a0002c0012t0016g0002 a0002c0012t0016g0003 a0002c0066t0023g0088 a0002c0090t0010g0047 a0003c0001t0059g0026 a0003c0001t0063g0033 a0003c0001t0066g0041 a0003c0047t0038g0082 a0004c0003t0003g0070 a0004c0003t0052g0069 a0004c0080t0014g0078 a0005c0057t0013g0045 a0005c0058t0012g0063 a0006c0077t0003g0099 a0007c0006t0012g0115 a0009c0019t0074g0006 a0009c0020t0070g0009 a0010c0079t0054g0071 a0010c0082t0001g0076 a0011c0022t0072g0008 a0013c0070t0026g0112 a0015c0074t0042g0081 a0017c0035t0005g0058 a0018c0024t0061g0013 a0019c0050t0019g0092 a0024c0023t0030g0113 a0035c0073t0001g0016	44	47	0.9362	-20	c.713 others(39): Show c.713+76465_713+76484delAATAAATAAATAAATAAATA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3806279	CTAGGATG others(13): Show CTAGGATGTGGATGTCCACAT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01978.hp1 HG02258.hp1 others(14): Show HG00738.hp2 HG01978.hp1 HG02258.hp1 HG02723.hp2 HG02738.hp2 HG02886.hp1 HG03195.hp1 HG03225.hp1 HG03471.hp2 HG03710.hp2 HG04228.hp2 NA18522.hp1 NA18906.hp2 NA19030.hp2 NA19043.hp1 NA20129.hp1 NA20752.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0011 a0033	a0001c0004 a0001c0007 a0001c0037 others(14): Show a0001c0004 a0001c0007 a0001c0037 a0001c0039 a0001c0049 a0001c0059 a0001c0064 a0001c0088 a0002c0029 a0003c0001 a0004c0080 a0005c0058 a0006c0016 a0007c0044 a0011c0021 a0011c0022 a0033c0051	a0001c0004t0001 a0001c0007t0021 a0001c0037t0002 others(14): Show a0001c0004t0001 a0001c0007t0021 a0001c0037t0002 a0001c0039t0050 a0001c0049t0036 a0001c0059t0027 a0001c0064t0006 a0001c0088t0009 a0002c0029t0005 a0003c0001t0003 a0004c0080t0014 a0005c0058t0012 a0006c0016t0001 a0007c0044t0001 a0011c0021t0073 a0011c0022t0072 a0033c0051t0062	a0001c0004t0001g0039 a0001c0007t0021g0110 a0001c0037t0002g0077 others(14): Show a0001c0004t0001g0039 a0001c0007t0021g0110 a0001c0037t0002g0077 a0001c0039t0050g0022 a0001c0049t0036g0109 a0001c0059t0027g0090 a0001c0064t0006g0111 a0001c0088t0009g0048 a0002c0029t0005g0094 a0003c0001t0003g0037 a0004c0080t0014g0078 a0005c0058t0012g0063 a0006c0016t0001g0114 a0007c0044t0001g0020 a0011c0021t0073g0007 a0011c0022t0072g0008 a0033c0051t0062g0019	17	67	0.2537	-20	c.714 others(39): Show c.714-15085_714-15066delTGTGGATGTCCACATTAGGA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4012549	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0018 a0018	a0018c0024 a0018c0024	a0018c0024t0061 a0018c0024t0061	a0018c0024t0061g0013 a0018c0024t0061g0013	1	5	0.2000	-20	c.242 others(37): Show c.2420+338_2420+357delTTTTTTTTTTTTTTTTTTTT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	16/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4083163	GCTACACA others(13): Show GCTACACATATACACACACCT	G G	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0003 a0003	a0003c0033 a0003c0033	a0003c0033t0002 a0003c0033t0002	a0003c0033t0002g0103 a0003c0033t0002g0103	1	116	0.0086	-20	c.332 others(39): Show c.3324+3580_3324+3599delCTACACATATACACACACCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	22/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	4084662	ATATGTTA others(13): Show ATATGTTATGTTACGTTATGT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02559.hp1 HG02896.hp2 others(4): Show HG02258.hp2 HG02559.hp1 HG02896.hp2 HG02922.hp2 HG03225.hp1 NA18906.hp2 NA19030.hp1	a0001 a0011 a0012 a0001 a0011 a0012	a0001c0017 a0001c0088 a0001c0091 others(3): Show a0001c0017 a0001c0088 a0001c0091 a0001c0093 a0011c0022 a0012c0015	a0001c0017t0011 a0001c0088t0009 a0001c0091t0010 others(3): Show a0001c0017t0011 a0001c0088t0009 a0001c0091t0010 a0001c0093t0006 a0011c0022t0072 a0012c0015t0017	a0001c0017t0011g0051 a0001c0017t0011g0052 a0001c0088t0009g0048 others(4): Show a0001c0017t0011g0051 a0001c0017t0011g0052 a0001c0088t0009g0048 a0001c0091t0010g0055 a0001c0093t0006g0053 a0011c0022t0072g0008 a0012c0015t0017g0066	7	106	0.0660	-20	c.332 others(39): Show c.3324+5091_3324+5110delCGTTATGTTATGTTATGTTA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	22/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK2_chr17_73329384_73649445	73457222	TCTTCCTT others(13): Show TCTTCCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02083.hp2 HG02300.hp1 others(2): Show HG01243.hp2 HG02083.hp2 HG02300.hp1 HG02451.hp1 NA19010.hp1	a0001 a0004 a0001 a0004	a0001c0003 a0001c0004 a0001c0018 others(2): Show a0001c0003 a0001c0004 a0001c0018 a0001c0064 a0004c0049	a0001c0003t0020 a0001c0004t0001 a0001c0018t0017 others(2): Show a0001c0003t0020 a0001c0004t0001 a0001c0018t0017 a0001c0064t0031 a0004c0049t0002	a0001c0003t0020g0156 a0001c0004t0001g0112 a0001c0018t0017g0153 others(2): Show a0001c0003t0020g0156 a0001c0004t0001g0112 a0001c0018t0017g0153 a0001c0064t0031g0161 a0004c0049t0002g0170	5	108	0.0463	-20	c.332 others(37): Show c.332-1189_332-1170delGAAGGAAGGAAGGAAGGAAG	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	3/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73499859	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00642.hp1 HG00733.hp2 others(34): Show HG00544.hp2 HG00642.hp1 HG00733.hp2 HG01074.hp2 HG01106.hp1 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01361.hp1 HG02074.hp2 HG02083.hp1 HG02129.hp1 HG02148.hp1 HG02165.hp2 HG02559.hp2 HG02630.hp1 HG02738.hp1 HG02809.hp1 HG02886.hp2 HG03195.hp1 HG03239.hp1 HG03579.hp1 HG03831.hp1 HG03942.hp1 HG04228.hp2 NA18522.hp2 NA18944.hp2 NA18948.hp1 NA18961.hp2 NA18970.hp1 NA18970.hp2 NA18990.hp1 NA19007.hp2 NA19010.hp1 NA19074.hp1 NA21309.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0008 a0009 a0015 a0026	a0001c0001 a0001c0002 a0001c0003 others(24): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0010 a0001c0013 a0001c0014 a0001c0024 a0001c0035 a0001c0036 a0001c0041 a0001c0048 a0002c0020 a0002c0030 a0003c0009 a0003c0022 a0003c0045 a0003c0088 a0004c0011 a0004c0080 a0008c0047 a0009c0021 a0015c0106 a0026c0074	a0001c0001t0001 a0001c0001t0068 a0001c0002t0001 others(34): Show a0001c0001t0001 a0001c0001t0068 a0001c0002t0001 a0001c0002t0010 a0001c0002t0014 a0001c0003t0061 a0001c0004t0001 a0001c0004t0010 a0001c0004t0019 a0001c0005t0078 a0001c0007t0003 a0001c0008t0005 a0001c0008t0085 a0001c0010t0006 a0001c0013t0101 a0001c0014t0006 a0001c0024t0006 a0001c0035t0056 a0001c0036t0029 a0001c0041t0099 a0001c0048t0073 a0002c0020t0026 a0002c0020t0089 a0002c0030t0072 a0003c0009t0003 a0003c0009t0016 a0003c0009t0087 a0003c0022t0003 a0003c0022t0004 a0003c0045t0098 a0003c0088t0012 a0004c0011t0010 a0004c0080t0054 a0008c0047t0023 a0009c0021t0019 a0015c0106t0012 a0026c0074t0009	a0001c0001t0001g0013 a0001c0001t0068g0012 a0001c0002t0001g0114 others(34): Show a0001c0001t0001g0013 a0001c0001t0068g0012 a0001c0002t0001g0114 a0001c0002t0010g0184 a0001c0002t0014g0098 a0001c0003t0061g0042 a0001c0004t0001g0112 a0001c0004t0010g0088 a0001c0004t0019g0132 a0001c0005t0078g0101 a0001c0007t0003g0026 a0001c0008t0005g0136 a0001c0008t0085g0143 a0001c0010t0006g0054 a0001c0013t0101g0137 a0001c0014t0006g0115 a0001c0024t0006g0152 a0001c0035t0056g0066 a0001c0036t0029g0124 a0001c0041t0099g0127 a0001c0048t0073g0109 a0002c0020t0026g0108 a0002c0020t0089g0107 a0002c0030t0072g0096 a0003c0009t0003g0084 a0003c0009t0016g0103 a0003c0009t0087g0008 a0003c0022t0003g0168 a0003c0022t0004g0087 a0003c0045t0098g0197 a0003c0088t0012g0174 a0004c0011t0010g0176 a0004c0080t0054g0081 a0008c0047t0023g0019 a0009c0021t0019g0046 a0015c0106t0012g0100 a0026c0074t0009g0113	37	43	0.8605	-20	c.224 others(37): Show c.224+7559_224+7578delCACACACACACACACACACA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	2/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73502079	GCACATAC others(13): Show GCACATACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0047 a0001c0039t0047	a0001c0039t0047g0147 a0001c0039t0047g0147	1	72	0.0139	-20	c.224 others(37): Show c.224+5339_224+5358delTGTGTGTGTGTGTGTATGTG	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	2/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73575725	GAATAGAC others(13): Show GAATAGACAATCTTTGTGCTC	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0017 a0001c0005t0017	a0001c0005t0017g0106 a0001c0005t0017g0106	1	202	0.0050	-20	c.65- others(37): Show c.65-68148_65-68129delGAGCACAAAGATTGTCTATT	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	1/44			chr17	TogoVar
SDSL_chr12_113417380_113443276	113419698	ATATATTT others(13): Show ATATATTTGTATACAAACATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01361.hp2 HG01496.hp2 others(17): Show HG01168.hp1 HG01361.hp2 HG01496.hp2 HG02015.hp1 HG02080.hp1 HG02300.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp2 HG06807.hp2 NA18942.hp2 NA18950.hp2 NA18974.hp2 NA18979.hp1 NA18981.hp2 NA19002.hp1 NA19009.hp2 NA19011.hp1 NA19080.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0050 a0001c0001t0001g0051 others(16): Show a0001c0001t0001g0013 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0074	20	296	0.0676	-20	c.-28 others(31): Show c.-2800_-2781delTATATTTGTATACAAACATG	SDSL	ENSG00000139410.15	transcript	ENST00000403593.9	protein_coding		2681		chr12	TogoVar
SDSL_chr12_113417380_113443276	113430121	TCCATCCA others(13): Show TCCATCCATCCATCCATCCAC	T T	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	296	0.0034	-20	c.354 others(35): Show c.354+840_354+859delCACCCATCCATCCATCCATC	SDSL	ENSG00000139410.15	transcript	ENST00000403593.9	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
SDSL_chr12_113417380_113443276	113432209	CTTCTTTC others(13): Show CTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00621.hp1 HG00639.hp2 others(29): Show HG00140.hp2 HG00621.hp1 HG00639.hp2 HG01168.hp1 HG01256.hp2 HG01496.hp2 HG02040.hp2 HG02056.hp2 HG02083.hp1 HG02622.hp1 HG02647.hp2 HG02735.hp2 HG02738.hp2 HG02922.hp1 HG03139.hp1 HG03471.hp1 HG03540.hp1 HG03704.hp2 HG03927.hp2 NA18950.hp1 NA18960.hp2 NA18979.hp1 NA18990.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19084.hp2 NA19240.hp2 NA20129.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp2	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0008	a0001c0001 a0001c0003 a0001c0013 others(4): Show a0001c0001 a0001c0003 a0001c0013 a0001c0014 a0003c0004 a0006c0007 a0008c0008	a0001c0001t0001 a0001c0003t0001 a0001c0013t0001 others(4): Show a0001c0001t0001 a0001c0003t0001 a0001c0013t0001 a0001c0014t0001 a0003c0004t0001 a0006c0007t0001 a0008c0008t0001	a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0033 others(23): Show a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0033 a0001c0001t0001g0047 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0085 a0001c0001t0001g0102 a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0145 a0001c0001t0001g0159 a0001c0001t0001g0166 a0001c0003t0001g0113 a0001c0013t0001g0056 a0001c0014t0001g0115 a0003c0004t0001g0004 a0003c0004t0001g0114 a0003c0004t0001g0153 a0006c0007t0001g0097 a0008c0008t0001g0004	32	69	0.4638	-20	c.355 others(37): Show c.355-1860_355-1841delTTCTTTCTTTCTTTCTTTCT	SDSL	ENSG00000139410.15	transcript	ENST00000403593.9	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
SDS_chr12_113387445_113408887	113396544	CCCTTCCT others(13): Show CCCTTCCTTCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02717.hp1 HG02723.hp2 HG01099.hp2 HG02717.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0002g0060 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0002g0060	3	52	0.0577	-20	c.653 others(35): Show c.653+601_653+620delAAGGAAGGAAGGAAGGAAGG	SDS	ENSG00000135094.11	transcript	ENST00000257549.9	protein_coding	6/7			chr12	TogoVar
SEC14L1_chr17_77135969_77222101	77145079	GTGTGTGT others(13): Show GTGTGTGTGTGTGTGTATGTA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG00673.hp2 others(19): Show HG00438.hp1 HG00597.hp1 HG00673.hp2 HG01109.hp1 HG01192.hp2 HG01346.hp2 HG01496.hp2 HG02135.hp2 HG02683.hp1 HG02723.hp2 NA18939.hp2 NA18943.hp1 NA18949.hp2 NA18954.hp2 NA18960.hp2 NA18963.hp2 NA18975.hp2 NA18985.hp2 NA19010.hp2 NA19011.hp2 NA19082.hp2 NA19083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0005 a0001c0002t0010 others(6): Show a0001c0002t0003 a0001c0002t0005 a0001c0002t0010 a0001c0002t0014 a0001c0002t0016 a0001c0002t0029 a0001c0002t0042 a0001c0002t0054 a0001c0002t0055	a0001c0002t0003g0036 a0001c0002t0003g0195 a0001c0002t0003g0306 others(18): Show a0001c0002t0003g0036 a0001c0002t0003g0195 a0001c0002t0003g0306 a0001c0002t0003g0375 a0001c0002t0005g0282 a0001c0002t0005g0295 a0001c0002t0005g0296 a0001c0002t0005g0373 a0001c0002t0010g0015 a0001c0002t0010g0290 a0001c0002t0010g0301 a0001c0002t0014g0299 a0001c0002t0014g0300 a0001c0002t0014g0302 a0001c0002t0016g0298 a0001c0002t0016g0307 a0001c0002t0016g0374 a0001c0002t0029g0304 a0001c0002t0042g0305 a0001c0002t0054g0303 a0001c0002t0055g0370	22	428	0.0514	-20	c.63+ others(35): Show c.63+1436_63+1455delATGTATGTGTGTGTGTGTGT	SEC14L1	ENSG00000129657.16	transcript	ENST00000436233.9	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEC14L1_chr17_77135969_77222101	77180041	TTGTTTTG others(13): Show TTGTTTTGTTATGTTATGTTA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp2 HG00741.hp1 others(39): Show HG00408.hp1 HG00597.hp2 HG00741.hp1 HG01168.hp1 HG01169.hp2 HG01261.hp2 HG01496.hp1 HG01928.hp2 HG01943.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02155.hp2 HG02293.hp2 HG02895.hp1 HG02897.hp2 HG03017.hp1 HG03041.hp1 HG03490.hp1 HG03669.hp1 HG04184.hp1 HG04204.hp2 NA18945.hp1 NA18969.hp1 NA18971.hp1 NA18981.hp2 NA18986.hp2 NA18994.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19057.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19076.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0003t0002 a0001c0003t0018 a0001c0003t0027	a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0236 others(36): Show a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0236 a0001c0001t0003g0001 a0001c0001t0006g0001 a0001c0001t0006g0010 a0001c0001t0006g0028 a0001c0001t0006g0029 a0001c0001t0006g0197 a0001c0001t0006g0198 a0001c0001t0006g0202 a0001c0001t0006g0204 a0001c0001t0006g0205 a0001c0001t0006g0207 a0001c0001t0006g0208 a0001c0001t0006g0209 a0001c0001t0006g0210 a0001c0001t0006g0211 a0001c0001t0006g0212 a0001c0001t0006g0213 a0001c0001t0006g0214 a0001c0001t0006g0215 a0001c0001t0006g0217 a0001c0001t0006g0218 a0001c0001t0006g0219 a0001c0001t0006g0220 a0001c0001t0006g0223 a0001c0001t0006g0224 a0001c0001t0006g0225 a0001c0001t0006g0387 a0001c0001t0006g0389 a0001c0003t0002g0012 a0001c0003t0002g0235 a0001c0003t0002g0243 a0001c0003t0002g0244 a0001c0003t0002g0272 a0001c0003t0018g0012 a0001c0003t0018g0031 a0001c0003t0027g0230	42	343	0.1224	-20	c.64- others(37): Show c.64-10757_64-10738delTTGTTATGTTATGTTATGTT	SEC14L1	ENSG00000129657.16	transcript	ENST00000436233.9	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEC14L1_chr17_77135969_77222101	77180046	TTGTTATG others(13): Show TTGTTATGTTATGTTATGTTA	T T	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0051 a0001c0001t0004g0051	1	222	0.0045	-20	c.64- others(37): Show c.64-10721_64-10702delTGTTATGTTATGTTATGTTA	SEC14L1	ENSG00000129657.16	transcript	ENST00000436233.9	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEC14L2_chr22_30392018_30430303	30426407	CCTCGATC others(13): Show CCTCGATCACTCTGCCCCTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0131 a0002c0002t0004g0131	1	418	0.0024	-20	c.40 others(31): Show c.4001_*4020delCTCGATCACTCTGCCCCTCT	SEC14L2	ENSG00000100003.18	transcript	ENST00000615189.5	protein_coding		1105		chr22	TogoVar
SEC16B_chr1_177923788_177975058	177949383	AACACACA others(13): Show AACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02258.hp2 NA18906.hp1 HG01884.hp1 HG02258.hp2 NA18906.hp1	a0001 a0016 a0001 a0016	a0001c0017 a0016c0024 a0001c0017 a0016c0024	a0001c0017t0001 a0016c0024t0010 a0001c0017t0001 a0016c0024t0010	a0001c0017t0001g0064 a0016c0024t0010g0057 a0016c0024t0010g0065 a0001c0017t0001g0064 a0016c0024t0010g0057 a0016c0024t0010g0065	3	110	0.0273	-20	c.154 others(39): Show c.1546-1461_1546-1442delGTGTGTGTGTGTGTGTGTGT	SEC16B	ENSG00000120341.19	transcript	ENST00000308284.11	protein_coding	12/25			chr1	TogoVar
SEC22A_chr3_123196943_123279136	123241002	TACACACA others(13): Show TACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0036 a0001c0001t0003g0036	1	34	0.0294	-20	c.542 others(37): Show c.542-4875_542-4856delCACACACACACACACACACA	SEC22A	ENSG00000121542.12	transcript	ENST00000492595.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
SEC22C_chr3_42542969_42586967	42560172	TTATATAT others(13): Show TTATATATAATATATATATTA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	392	0.0026	-20	c.526 others(35): Show c.526+925_526+944delTAATATATATATTATATATA	SEC22C	ENSG00000093183.14	transcript	ENST00000264454.8	protein_coding	4/6			chr3	TogoVar
SEC23A_chr14_39026919_39108235	39059278	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03490.hp2 NA20129.hp1 HG03490.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0342 a0001c0003t0001g0079 a0001c0001t0001g0342 a0001c0003t0001g0079	2	112	0.0179	-20	c.150 others(39): Show c.1505+2467_1505+2486delTTTTTTTTTTTTTTTTTTTT	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	13/19			chr14	TogoVar
SEC23A_chr14_39026919_39108235	39094389	CACACACA others(13): Show CACACACACATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0347 a0001c0003t0001g0347	1	324	0.0031	-20	c.222 others(37): Show c.222-1165_222-1146delATATATATATATGTGTGTGT	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19			chr14	TogoVar
SEC23A_chr14_39026919_39108235	39094391	CACACACA others(13): Show CACACACATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0101 a0001c0003t0001g0101	1	301	0.0033	-20	c.222 others(37): Show c.222-1167_222-1148delATATATATATATATGTGTGT	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19			chr14	TogoVar
SEC23A_chr14_39026919_39108235	39094426	ATATATAT others(13): Show ATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0306 a0002c0002t0001g0306	1	344	0.0029	-20	c.222 others(37): Show c.222-1202_222-1183delAAAATATATATATATATATA	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19			chr14	TogoVar
SEC23A_chr14_39026919_39108235	39094430	ATATATAT others(13): Show ATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02647.hp2 HG02976.hp1 others(1): Show HG01081.hp2 HG02647.hp2 HG02976.hp1 NA19080.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0295 a0002c0002t0001g0223 a0002c0002t0001g0234 others(1): Show a0001c0001t0001g0295 a0002c0002t0001g0223 a0002c0002t0001g0234 a0002c0002t0001g0235	4	338	0.0118	-20	c.222 others(37): Show c.222-1206_222-1187delAAAAAAAATATATATATATA	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19			chr14	TogoVar
SEC23A_chr14_39026919_39108235	39094432	ATATATAT others(13): Show ATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0185 a0002c0002t0001g0185	1	308	0.0032	-20	c.222 others(37): Show c.222-1208_222-1189delAAAAAAAAAATATATATATA	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19			chr14	TogoVar
SEC23B_chr20_18502940_18566415	18516534	CTTTTTTT others(13): Show CTTTTTTTTTTCTTTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG02717.hp2 others(1): Show HG01167.hp2 HG01169.hp1 HG02717.hp2 HG02818.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0034 a0001c0007t0001g0334 a0001c0007t0001g0335 a0001c0007t0001g0034 a0001c0007t0001g0334 a0001c0007t0001g0335	4	184	0.0217	-20	c.366 others(35): Show c.366+812_366+831delTTTCTTTTTTTTTTTTTCTT	SEC23B	ENSG00000101310.17	transcript	ENST00000650089.1	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr20	TogoVar
SEC24B_chr4_109428815_109545896	109439474	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18968.hp1 NA20752.hp2 HG02083.hp2 NA18968.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121	3	25	0.1200	-20	c.133 others(37): Show c.133+5498_133+5517delTTTTTTTTTTTTTTTTTTTT	SEC24B	ENSG00000138802.11	transcript	ENST00000265175.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEC24B_chr4_109428815_109545896	109457066	AAAGGCAA others(13): Show AAAGGCAAATATCATCTTAGT	A A	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	220	0.0045	-20	c.134 others(37): Show c.134-5833_134-5814delAGGCAAATATCATCTTAGTA	SEC24B	ENSG00000138802.11	transcript	ENST00000265175.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEC24B_chr4_109428815_109545896	109482936	CTATATAT others(13): Show CTATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	127	0.0079	-20	c.116 others(39): Show c.1165+1180_1165+1199delTATATATATATATATATATA	SEC24B	ENSG00000138802.11	transcript	ENST00000265175.5	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEC31A_chr4_82813509_82896153	82865536	GTATATAT others(13): Show GTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	17	0.0588	-20	c.119 others(37): Show c.1198-958_1198-939delTATATATATATATATATATA	SEC31A	ENSG00000138674.17	transcript	ENST00000395310.7	protein_coding	10/26			chr4	TogoVar
SEC31A_chr4_82813509_82896153	82882401	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	4	0.2500	-20	c.-4- others(33): Show c.-4-481_-4-462delTTTTTTTTTTTTTTTTTTTT	SEC31A	ENSG00000138674.17	transcript	ENST00000395310.7	protein_coding	1/26			chr4	TogoVar
SEC63_chr6_107862756_107963208	107863971	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02056.hp1 HG02040.hp2 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0168 a0001c0001t0001g0169	2	77	0.0260	-20	c.77 others(31): Show c.7713_*7732delACACACACACACACACACAC	SEC63	ENSG00000025796.14	transcript	ENST00000369002.9	protein_coding		3784		chr6	TogoVar
SEL1L2_chr20_13844247_13995614	13907700	CTCTTTCT others(13): Show CTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18994.hp2 NA18970.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0269 a0001c0001t0001g0166 a0001c0001t0001g0269	2	149	0.0134	-20	c.549 others(37): Show c.549+6062_549+6081delAAGAAAGAAAGAAAGAAAGA	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	5/19			chr20	TogoVar
SEL1L3_chr4_25742433_25867988	25790610	AGAAGGAA others(13): Show AGAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03579.hp2 HG02630.hp2 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0010 a0002c0002t0005 a0001c0001t0010 a0002c0002t0005	a0001c0001t0010g0008 a0002c0002t0005g0187 a0001c0001t0010g0008 a0002c0002t0005g0187	2	228	0.0088	-20	c.195 others(35): Show c.1957-56_1957-37delCTTCCTTCCTTCCTTCCTTC	SEL1L3	ENSG00000091490.11	transcript	ENST00000399878.8	protein_coding	11/23			chr4	TogoVar
SEL1L3_chr4_25742433_25867988	25790648	AAGGAAGG others(13): Show AAGGAAGGAAGGAAGGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG02735.hp1 NA18968.hp1 NA19058.hp2 HG02735.hp1 NA18968.hp1 NA19058.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0003c0004 a0006c0012 a0001c0001 a0003c0004 a0006c0012	a0001c0001t0002 a0003c0004t0001 a0006c0012t0002 a0001c0001t0002 a0003c0004t0001 a0006c0012t0002	a0001c0001t0002g0119 a0003c0004t0001g0110 a0006c0012t0002g0022 a0001c0001t0002g0119 a0003c0004t0001g0110 a0006c0012t0002g0022	3	247	0.0121	-20	c.195 others(35): Show c.1957-94_1957-75delCCCTTCCTTCCTTCCTTCCT	SEL1L3	ENSG00000091490.11	transcript	ENST00000399878.8	protein_coding	11/23			chr4	TogoVar
SEL1L3_chr4_25742433_25867988	25790652	AAGGAAGG others(13): Show AAGGAAGGAAGGAAGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01074.hp2 HG01106.hp2 others(17): Show HG00741.hp2 HG01074.hp2 HG01106.hp2 HG01257.hp1 HG01358.hp2 HG01515.hp1 HG01515.hp2 HG01928.hp2 HG01943.hp2 HG02027.hp2 HG02056.hp1 HG02615.hp2 HG02698.hp2 HG03098.hp2 HG03669.hp1 NA18948.hp1 NA18948.hp2 NA18957.hp1 NA19066.hp2 NA19077.hp1	a0001 a0008 a0013 a0001 a0008 a0013	a0001c0001 a0001c0003 a0001c0006 others(2): Show a0001c0001 a0001c0003 a0001c0006 a0008c0023 a0013c0036	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0001c0006t0004 a0008c0023t0002 a0013c0036t0002	a0001c0001t0001g0012 a0001c0001t0001g0047 a0001c0001t0001g0057 others(17): Show a0001c0001t0001g0012 a0001c0001t0001g0047 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0107 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0224 a0001c0001t0001g0263 a0001c0001t0002g0062 a0001c0001t0002g0064 a0001c0001t0002g0176 a0001c0001t0002g0207 a0001c0001t0002g0236 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0003t0002g0025 a0001c0006t0004g0132 a0008c0023t0002g0181 a0013c0036t0002g0303	20	300	0.0667	-20	c.195 others(35): Show c.1957-98_1957-79delCCCTCCCTTCCTTCCTTCCT	SEL1L3	ENSG00000091490.11	transcript	ENST00000399878.8	protein_coding	11/23			chr4	TogoVar
SEL1L3_chr4_25742433_25867988	25790656	AAGGAAGG others(13): Show AAGGAAGGAAGGGAGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00738.hp1 HG01109.hp2 others(17): Show HG00609.hp2 HG00738.hp1 HG01109.hp2 HG01256.hp1 HG01256.hp2 HG02083.hp2 HG02615.hp1 HG02895.hp2 HG02897.hp1 HG03579.hp1 HG03654.hp1 HG03704.hp1 HG03942.hp2 HG04115.hp2 HG04228.hp1 NA18955.hp2 NA18973.hp1 NA19065.hp2 NA19079.hp2 NA19081.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0004 a0001c0001 a0001c0003 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0003c0004t0001	a0001c0001t0001g0009 a0001c0001t0001g0030 a0001c0001t0001g0041 others(17): Show a0001c0001t0001g0009 a0001c0001t0001g0030 a0001c0001t0001g0041 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0070 a0001c0001t0001g0100 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0032 a0001c0001t0002g0163 a0001c0001t0002g0220 a0001c0003t0002g0013 a0003c0004t0001g0146	20	299	0.0669	-20	c.195 others(36): Show c.1957-102_1957-83delCCCTCCCTCCCTTCCTTCCT	SEL1L3	ENSG00000091490.11	transcript	ENST00000399878.8	protein_coding	11/23			chr4	TogoVar
SEL1L_chr14_81466547_81538853	81518794	GGCATACC others(13): Show GGCATACCTAAAATCAATATT	G G	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0143	1	358	0.0028	-20	c.340 others(37): Show c.340+7919_340+7938delAATATTGATTTTAGGTATGC	SEL1L	ENSG00000071537.14	transcript	ENST00000336735.9	protein_coding	3/20			chr14	TogoVar
SELENOI_chr2_26341143_26400885	26348996	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03669.hp2 others(2): Show HG03490.hp2 HG03492.hp2 HG03669.hp2 HG04199.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 others(2): Show a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0105	5	13	0.3846	-20	c.57+ others(35): Show c.57+2723_57+2742delTTTTTTTTTTTTTTTTTTTT	SELENOI	ENSG00000138018.19	transcript	ENST00000260585.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SEMA3A_chr7_83950777_84199789	83965648	ATATATAT others(13): Show ATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0211 a0001c0004t0006g0211	1	273	0.0037	-20	c.171 others(39): Show c.1718-2321_1718-2302delAATATATATATATATATATA	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	15/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84091167	GGAAAGAA others(13): Show GGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03209.hp2 NA18906.hp2 others(1): Show HG02970.hp1 HG03209.hp2 NA18906.hp2 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0006 a0001c0003t0013 a0001c0003t0014 others(1): Show a0001c0003t0006 a0001c0003t0013 a0001c0003t0014 a0001c0004t0016	a0001c0003t0006g0151 a0001c0003t0013g0240 a0001c0003t0014g0088 others(1): Show a0001c0003t0006g0151 a0001c0003t0013g0240 a0001c0003t0014g0088 a0001c0004t0016g0217	4	210	0.0190	-20	c.453 others(39): Show c.453+19283_453+19302delTTTCTTTCTTTCTTTCTTTC	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84159837	GATGTGAA others(13): Show GATGTGAACAATTGTGTTCTA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0154 a0001c0003t0012g0154	1	274	0.0036	-20	c.113 others(39): Show c.113-24906_113-24887delTAGAACACAATTGTTCACAT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	1/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84160223	GTCTATCT others(13): Show GTCTATCTATCTATCTATCTA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG00741.hp1 others(46): Show HG00639.hp1 HG00639.hp2 HG00741.hp1 HG01099.hp1 HG01106.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp2 HG01891.hp1 HG02055.hp1 HG02129.hp2 HG02132.hp2 HG02155.hp2 HG02165.hp1 HG02280.hp1 HG02572.hp1 HG02647.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03209.hp2 HG03471.hp2 HG03490.hp2 HG03492.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG06807.hp2 NA18944.hp1 NA18952.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18975.hp2 NA18977.hp2 NA18981.hp2 NA18991.hp1 NA18999.hp1 NA19001.hp2 NA19011.hp1 NA19054.hp1 NA19056.hp1 NA19057.hp1 NA19082.hp1 NA20129.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0002c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0025 a0001c0001t0028 a0001c0002t0002 a0001c0002t0038 a0001c0003t0006 a0001c0003t0008 a0001c0003t0012 a0001c0003t0033 a0001c0004t0006 a0001c0004t0016 a0001c0005t0001 a0001c0007t0001 a0001c0008t0008 a0001c0008t0013 a0002c0006t0010	a0001c0001t0001g0039 a0001c0001t0001g0064 a0001c0001t0001g0112 others(46): Show a0001c0001t0001g0039 a0001c0001t0001g0064 a0001c0001t0001g0112 a0001c0001t0001g0122 a0001c0001t0001g0184 a0001c0001t0001g0208 a0001c0001t0001g0241 a0001c0001t0003g0228 a0001c0001t0004g0008 a0001c0001t0004g0094 a0001c0001t0004g0108 a0001c0001t0004g0214 a0001c0001t0004g0215 a0001c0001t0004g0216 a0001c0001t0025g0015 a0001c0001t0028g0057 a0001c0002t0002g0018 a0001c0002t0002g0030 a0001c0002t0002g0038 a0001c0002t0002g0047 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0128 a0001c0002t0002g0129 a0001c0002t0002g0138 a0001c0002t0002g0147 a0001c0002t0002g0179 a0001c0002t0002g0233 a0001c0002t0038g0020 a0001c0003t0006g0014 a0001c0003t0006g0151 a0001c0003t0006g0155 a0001c0003t0006g0156 a0001c0003t0006g0163 a0001c0003t0006g0219 a0001c0003t0008g0068 a0001c0003t0012g0189 a0001c0003t0033g0238 a0001c0004t0006g0211 a0001c0004t0016g0009 a0001c0005t0001g0019 a0001c0005t0001g0191 a0001c0007t0001g0010 a0001c0008t0008g0085 a0001c0008t0013g0084 a0002c0006t0010g0183 a0002c0006t0010g0199	49	53	0.9245	-20	c.113 others(39): Show c.113-25292_113-25273delTAGATAGATAGATAGATAGA	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	1/16			chr7	TogoVar
SEMA3C_chr7_80737538_80924051	80750435	CATATATA others(13): Show CATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00597.hp1 HG01934.hp1 others(26): Show HG00280.hp2 HG00597.hp1 HG01934.hp1 HG01981.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02602.hp1 HG02735.hp1 HG03017.hp2 HG03492.hp1 HG03654.hp2 HG03704.hp1 HG04199.hp1 NA18944.hp1 NA18948.hp1 NA18949.hp1 NA18950.hp1 NA18968.hp2 NA18969.hp2 NA18972.hp1 NA18990.hp1 NA19007.hp1 NA19057.hp1 NA19057.hp2 NA19063.hp2 NA19087.hp1 NA19087.hp2 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0005	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0002c0005t0001	a0001c0001t0001g0015 a0001c0001t0001g0035 a0001c0001t0001g0060 others(26): Show a0001c0001t0001g0015 a0001c0001t0001g0035 a0001c0001t0001g0060 a0001c0001t0001g0073 a0001c0001t0001g0079 a0001c0001t0001g0085 a0001c0001t0001g0116 a0001c0001t0001g0213 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0029 a0001c0002t0001g0059 a0001c0002t0001g0089 a0001c0002t0001g0136 a0001c0002t0001g0163 a0001c0002t0001g0201 a0001c0002t0001g0235 a0001c0002t0001g0239 a0001c0004t0001g0140 a0001c0004t0001g0178 a0002c0005t0001g0109 a0002c0005t0001g0110 a0002c0005t0001g0114 a0002c0005t0001g0205	29	170	0.1706	-20	c.171 others(37): Show c.1711+814_1711+833delATATATATATATATATATAT	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	16/17			chr7	TogoVar

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