Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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Samplehapid

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No_samplehapid

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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	4084747	ATATTTTA others(3): Show ATATTTTATTT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02145.hp1 HG02258.hp2 others(16): Show HG01109.hp2 HG02145.hp1 HG02258.hp2 HG02559.hp1 HG02622.hp1 HG02630.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG03041.hp2 HG03139.hp1 HG03225.hp1 HG03540.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA19030.hp1 NA19043.hp2	a0001 a0002 a0008 others(5): Show a0001 a0002 a0008 a0011 a0015 a0016 a0028 a0032	a0001c0002 a0001c0011 a0001c0017 others(14): Show a0001c0002 a0001c0011 a0001c0017 a0001c0049 a0001c0061 a0001c0067 a0001c0087 a0001c0088 a0001c0091 a0001c0093 a0002c0013 a0008c0015 a0011c0022 a0015c0085 a0016c0023 a0028c0052 a0032c0075	a0001c0002t0040 a0001c0011t0039 a0001c0017t0011 others(14): Show a0001c0002t0040 a0001c0011t0039 a0001c0017t0011 a0001c0049t0036 a0001c0061t0031 a0001c0067t0068 a0001c0087t0009 a0001c0088t0009 a0001c0091t0010 a0001c0093t0006 a0002c0013t0015 a0008c0015t0017 a0011c0022t0072 a0015c0085t0043 a0016c0023t0030 a0028c0052t0032 a0032c0075t0008	a0001c0002t0040g0084 a0001c0011t0039g0061 a0001c0017t0011g0051 others(16): Show a0001c0002t0040g0084 a0001c0011t0039g0061 a0001c0017t0011g0051 a0001c0017t0011g0052 a0001c0049t0036g0109 a0001c0061t0031g0100 a0001c0067t0068g0001 a0001c0087t0009g0054 a0001c0088t0009g0048 a0001c0091t0010g0055 a0001c0093t0006g0053 a0002c0013t0015g0025 a0008c0015t0017g0059 a0008c0015t0017g0066 a0011c0022t0072g0007 a0015c0085t0043g0010 a0016c0023t0030g0113 a0028c0052t0032g0107 a0032c0075t0008g0016	19	116	0.1638	-10	c.332 others(29): Show c.3324+5179_3324+5188delTATTTTATTT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	22/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4194322	ATGCACGT others(3): Show ATGCACGTATG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01516.hp1 HG02717.hp1 others(3): Show HG01167.hp2 HG01516.hp1 HG02717.hp1 HG02896.hp1 HG03471.hp1 NA18906.hp1	a0001 a0002 a0032 a0001 a0002 a0032	a0001c0008 a0001c0038 a0001c0040 others(3): Show a0001c0008 a0001c0038 a0001c0040 a0001c0060 a0002c0013 a0032c0075	a0001c0008t0004 a0001c0038t0013 a0001c0040t0001 others(3): Show a0001c0008t0004 a0001c0038t0013 a0001c0040t0001 a0001c0060t0041 a0002c0013t0064 a0032c0075t0008	a0001c0008t0004g0096 a0001c0038t0013g0038 a0001c0040t0001g0040 others(3): Show a0001c0008t0004g0096 a0001c0038t0013g0038 a0001c0040t0001g0040 a0001c0060t0041g0080 a0002c0013t0064g0026 a0032c0075t0008g0016	6	116	0.0517	-10	c.509 others(31): Show c.5099-11554_5099-11545delCACGTATGTG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	35/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK2_chr17_73329384_73649445	73330545	CTGTGTGT others(3): Show CTGTGTGTGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00621.hp2 HG00639.hp1 others(33): Show HG00544.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG01261.hp1 HG01346.hp1 HG02083.hp1 HG02129.hp2 HG02165.hp2 HG02486.hp2 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02897.hp1 HG02965.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03225.hp1 HG03239.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18993.hp2 NA19010.hp1 NA19010.hp2 NA19066.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0007 a0009 a0012 a0013 a0015 a0016 a0023	a0001c0001 a0001c0002 a0001c0003 others(29): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0010 a0001c0013 a0001c0016 a0001c0048 a0001c0071 a0001c0082 a0001c0094 a0002c0029 a0002c0059 a0002c0101 a0002c0104 a0003c0045 a0003c0112 a0004c0011 a0004c0066 a0004c0095 a0005c0012 a0007c0019 a0007c0083 a0009c0021 a0012c0078 a0013c0099 a0015c0106 a0016c0058 a0023c0091	a0001c0001t0001 a0001c0001t0009 a0001c0002t0001 others(33): Show a0001c0001t0001 a0001c0001t0009 a0001c0002t0001 a0001c0002t0096 a0001c0003t0090 a0001c0004t0001 a0001c0005t0078 a0001c0007t0013 a0001c0008t0005 a0001c0010t0004 a0001c0010t0006 a0001c0013t0013 a0001c0016t0080 a0001c0048t0073 a0001c0071t0071 a0001c0082t0005 a0001c0094t0005 a0002c0029t0003 a0002c0059t0063 a0002c0101t0005 a0002c0104t0003 a0003c0045t0098 a0003c0112t0019 a0004c0011t0091 a0004c0066t0018 a0004c0095t0037 a0005c0012t0081 a0007c0019t0027 a0007c0019t0075 a0007c0083t0076 a0009c0021t0019 a0012c0078t0005 a0013c0099t0013 a0015c0106t0012 a0016c0058t0067 a0023c0091t0008	a0001c0001t0001g0192 a0001c0001t0009g0120 a0001c0002t0001g0137 others(33): Show a0001c0001t0001g0192 a0001c0001t0009g0120 a0001c0002t0001g0137 a0001c0002t0096g0123 a0001c0003t0090g0132 a0001c0004t0001g0110 a0001c0005t0078g0100 a0001c0007t0013g0091 a0001c0008t0005g0134 a0001c0010t0004g0164 a0001c0010t0006g0053 a0001c0013t0013g0195 a0001c0016t0080g0165 a0001c0048t0073g0108 a0001c0071t0071g0092 a0001c0082t0005g0093 a0001c0094t0005g0089 a0002c0029t0003g0078 a0002c0059t0063g0144 a0002c0101t0005g0076 a0002c0104t0003g0196 a0003c0045t0098g0184 a0003c0112t0019g0101 a0004c0011t0091g0104 a0004c0066t0018g0031 a0004c0095t0037g0061 a0005c0012t0081g0178 a0007c0019t0027g0004 a0007c0019t0075g0017 a0007c0083t0076g0037 a0009c0021t0019g0045 a0012c0078t0005g0006 a0013c0099t0013g0133 a0015c0106t0012g0099 a0016c0058t0067g0161 a0023c0091t0008g0182	36	204	0.1765	-10	c.80 others(21): Show c.8032_*8041delCACACACACA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding		3838		chr17	TogoVar
SDK2_chr17_73329384_73649445	73331383	GCTCCCCT others(3): Show GCTCCCCTCGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0026 a0026	a0026c0114 a0026c0114	a0026c0114t0094 a0026c0114t0094	a0026c0114t0094g0179 a0026c0114t0094g0179	1	204	0.0049	-10	c.71 others(21): Show c.7194_*7203delACGAGGGGAG	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding		3000		chr17	TogoVar
SDK2_chr17_73329384_73649445	73405467	CATATATA others(3): Show CATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02056.hp2 HG02647.hp2 others(2): Show HG02055.hp2 HG02056.hp2 HG02647.hp2 HG03579.hp1 NA19030.hp1	a0001 a0010 a0024 a0001 a0010 a0024	a0001c0005 a0001c0008 a0001c0035 others(2): Show a0001c0005 a0001c0008 a0001c0035 a0010c0063 a0024c0087	a0001c0005t0048 a0001c0008t0059 a0001c0035t0056 others(2): Show a0001c0005t0048 a0001c0008t0059 a0001c0035t0056 a0010c0063t0025 a0024c0087t0014	a0001c0005t0048g0145 a0001c0008t0059g0029 a0001c0035t0056g0065 others(2): Show a0001c0005t0048g0145 a0001c0008t0059g0029 a0001c0035t0056g0065 a0010c0063t0025g0166 a0024c0087t0014g0064	5	204	0.0245	-10	c.248 others(29): Show c.2485-3336_2485-3327delATATATATAT	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	18/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73411991	TATATACA others(3): Show TATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00544.hp2 others(37): Show HG00099.hp2 HG00323.hp2 HG00544.hp2 HG00733.hp1 HG01081.hp1 HG01169.hp1 HG01192.hp2 HG02109.hp2 HG02148.hp2 HG02155.hp1 HG02451.hp1 HG02647.hp1 HG02717.hp2 HG02738.hp1 HG02886.hp1 HG02886.hp2 HG02965.hp2 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03486.hp2 HG03516.hp1 HG03688.hp2 HG03831.hp1 NA18948.hp1 NA18970.hp1 NA18990.hp1 NA19007.hp2 NA19030.hp1 NA19066.hp2 NA19074.hp1 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0005 a0007 a0008 a0009 a0018 a0021 a0026	a0001c0005 a0001c0008 a0001c0010 others(21): Show a0001c0005 a0001c0008 a0001c0010 a0001c0016 a0001c0018 a0001c0026 a0001c0039 a0001c0052 a0002c0029 a0002c0105 a0003c0009 a0003c0017 a0003c0022 a0003c0045 a0003c0088 a0003c0112 a0005c0012 a0005c0037 a0007c0050 a0008c0090 a0009c0021 a0018c0086 a0021c0074 a0026c0114	a0001c0005t0001 a0001c0008t0004 a0001c0008t0005 others(35): Show a0001c0005t0001 a0001c0008t0004 a0001c0008t0005 a0001c0008t0030 a0001c0008t0059 a0001c0008t0085 a0001c0010t0008 a0001c0016t0026 a0001c0018t0008 a0001c0018t0017 a0001c0026t0022 a0001c0026t0035 a0001c0039t0047 a0001c0052t0007 a0002c0029t0045 a0002c0105t0021 a0003c0009t0002 a0003c0009t0003 a0003c0009t0016 a0003c0009t0087 a0003c0017t0005 a0003c0017t0086 a0003c0022t0003 a0003c0022t0004 a0003c0045t0098 a0003c0088t0012 a0003c0112t0019 a0005c0012t0039 a0005c0012t0058 a0005c0012t0074 a0005c0037t0057 a0007c0050t0027 a0008c0090t0023 a0009c0021t0004 a0009c0021t0019 a0018c0086t0012 a0021c0074t0009 a0026c0114t0094	a0001c0005t0001g0050 a0001c0008t0004g0051 a0001c0008t0005g0134 others(37): Show a0001c0005t0001g0050 a0001c0008t0004g0051 a0001c0008t0005g0134 a0001c0008t0030g0103 a0001c0008t0059g0029 a0001c0008t0085g0142 a0001c0010t0008g0058 a0001c0016t0026g0126 a0001c0018t0008g0016 a0001c0018t0008g0156 a0001c0018t0017g0152 a0001c0026t0022g0115 a0001c0026t0035g0070 a0001c0039t0047g0146 a0001c0052t0007g0056 a0002c0029t0045g0081 a0002c0105t0021g0148 a0003c0009t0002g0088 a0003c0009t0002g0199 a0003c0009t0003g0083 a0003c0009t0016g0102 a0003c0009t0087g0008 a0003c0017t0005g0193 a0003c0017t0086g0096 a0003c0022t0003g0167 a0003c0022t0004g0086 a0003c0045t0098g0184 a0003c0088t0012g0174 a0003c0112t0019g0101 a0005c0012t0039g0153 a0005c0012t0058g0040 a0005c0012t0074g0185 a0005c0037t0057g0147 a0007c0050t0027g0172 a0008c0090t0023g0071 a0009c0021t0004g0194 a0009c0021t0019g0045 a0018c0086t0012g0204 a0021c0074t0009g0111 a0026c0114t0094g0179	40	204	0.1961	-10	c.248 others(29): Show c.2484+2643_2484+2652delGTGTGTATAT	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	18/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73426208	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp1 HG02145.hp1 others(11): Show HG01243.hp2 HG01891.hp1 HG02145.hp1 HG02258.hp1 HG02451.hp1 HG02630.hp1 HG02818.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03453.hp1 HG03540.hp2 NA18522.hp2 NA19030.hp2	a0001 a0004 a0006 others(1): Show a0001 a0004 a0006 a0008	a0001c0002 a0001c0003 a0001c0010 others(9): Show a0001c0002 a0001c0003 a0001c0010 a0001c0018 a0001c0068 a0004c0027 a0004c0054 a0004c0080 a0006c0085 a0008c0047 a0008c0069 a0008c0090	a0001c0002t0001 a0001c0002t0010 a0001c0003t0011 others(11): Show a0001c0002t0001 a0001c0002t0010 a0001c0003t0011 a0001c0003t0020 a0001c0010t0043 a0001c0018t0017 a0001c0068t0007 a0004c0027t0011 a0004c0054t0022 a0004c0080t0054 a0006c0085t0095 a0008c0047t0023 a0008c0069t0102 a0008c0090t0023	a0001c0002t0001g0047 a0001c0002t0010g0181 a0001c0003t0011g0067 others(11): Show a0001c0002t0001g0047 a0001c0002t0010g0181 a0001c0003t0011g0067 a0001c0003t0020g0155 a0001c0010t0043g0069 a0001c0018t0017g0152 a0001c0068t0007g0117 a0004c0027t0011g0035 a0004c0054t0022g0084 a0004c0080t0054g0080 a0006c0085t0095g0042 a0008c0047t0023g0019 a0008c0069t0102g0116 a0008c0090t0023g0071	14	204	0.0686	-10	c.158 others(29): Show c.1584-2126_1584-2117delAAAAAAAAAA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	12/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73457276	TTCCTTCC others(3): Show TTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18993.hp1 NA18993.hp2 NA18970.hp1 NA18993.hp1 NA18993.hp2	a0001 a0003 a0023 a0001 a0003 a0023	a0001c0032 a0003c0088 a0023c0091 a0001c0032 a0003c0088 a0023c0091	a0001c0032t0001 a0003c0088t0012 a0023c0091t0008 a0001c0032t0001 a0003c0088t0012 a0023c0091t0008	a0001c0032t0001g0136 a0003c0088t0012g0174 a0023c0091t0008g0182 a0001c0032t0001g0136 a0003c0088t0012g0174 a0023c0091t0008g0182	3	204	0.0147	-10	c.332 others(27): Show c.332-1233_332-1224delGAAGGAAGGA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	3/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73469992	GCACACAC others(3): Show GCACACACACA	G G	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA21309.hp2 HG02809.hp1 NA21309.hp2	a0004 a0026 a0004 a0026	a0004c0011 a0026c0114 a0004c0011 a0026c0114	a0004c0011t0010 a0026c0114t0094 a0004c0011t0010 a0026c0114t0094	a0004c0011t0010g0176 a0026c0114t0094g0179 a0004c0011t0010g0176 a0026c0114t0094g0179	2	204	0.0098	-10	c.331 others(27): Show c.331+2110_331+2119delTGTGTGTGTG	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	3/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73483661	GTATATAT others(3): Show GTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02257.hp2 HG03209.hp2 others(1): Show HG02083.hp1 HG02257.hp2 HG03209.hp2 NA18970.hp1	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0002 a0001c0048 a0003c0088 others(1): Show a0001c0002 a0001c0048 a0003c0088 a0008c0090	a0001c0002t0065 a0001c0048t0073 a0003c0088t0012 others(1): Show a0001c0002t0065 a0001c0048t0073 a0003c0088t0012 a0008c0090t0023	a0001c0002t0065g0177 a0001c0048t0073g0108 a0003c0088t0012g0174 others(1): Show a0001c0002t0065g0177 a0001c0048t0073g0108 a0003c0088t0012g0174 a0008c0090t0023g0071	4	204	0.0196	-10	c.225 others(29): Show c.225-11453_225-11444delTATATATATA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	2/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73483673	ATATATAT others(3): Show ATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02451.hp1 HG01099.hp2 HG02451.hp1	a0001 a0005 a0001 a0005	a0001c0018 a0005c0038 a0001c0018 a0005c0038	a0001c0018t0017 a0005c0038t0007 a0001c0018t0017 a0005c0038t0007	a0001c0018t0017g0152 a0005c0038t0007g0052 a0001c0018t0017g0152 a0005c0038t0007g0052	2	204	0.0098	-10	c.225 others(29): Show c.225-11465_225-11456delAATATATATA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	2/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73495619	CGTGTGTG others(3): Show CGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03017.hp2 HG02698.hp1 HG03017.hp2	a0004 a0009 a0004 a0009	a0004c0040 a0009c0021 a0004c0040 a0009c0021	a0004c0040t0028 a0009c0021t0004 a0004c0040t0028 a0009c0021t0004	a0004c0040t0028g0127 a0009c0021t0004g0194 a0004c0040t0028g0127 a0009c0021t0004g0194	2	204	0.0098	-10	c.224 others(29): Show c.224+11809_224+11818delACACACACAC	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	2/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73499859	CTGTGTGT others(3): Show CTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00733.hp1 HG01081.hp1 others(20): Show HG00639.hp1 HG00733.hp1 HG01081.hp1 HG01891.hp2 HG02071.hp1 HG02258.hp2 HG02809.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03516.hp2 HG03540.hp2 HG04115.hp1 HG06807.hp2 NA19030.hp1 NA19066.hp1 NA20905.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0007 a0008 a0009	a0001c0001 a0001c0002 a0001c0003 others(16): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0010 a0001c0025 a0001c0043 a0001c0051 a0001c0052 a0001c0053 a0001c0089 a0002c0059 a0002c0105 a0004c0011 a0007c0083 a0008c0044 a0009c0021	a0001c0001t0015 a0001c0002t0001 a0001c0002t0004 others(20): Show a0001c0001t0015 a0001c0002t0001 a0001c0002t0004 a0001c0003t0011 a0001c0004t0082 a0001c0006t0010 a0001c0006t0018 a0001c0006t0020 a0001c0008t0059 a0001c0010t0043 a0001c0025t0016 a0001c0043t0033 a0001c0051t0046 a0001c0052t0007 a0001c0053t0022 a0001c0089t0055 a0002c0059t0063 a0002c0105t0021 a0004c0011t0018 a0004c0011t0091 a0007c0083t0076 a0008c0044t0023 a0009c0021t0004	a0001c0001t0015g0072 a0001c0002t0001g0047 a0001c0002t0004g0038 others(20): Show a0001c0001t0015g0072 a0001c0002t0001g0047 a0001c0002t0004g0038 a0001c0003t0011g0067 a0001c0004t0082g0168 a0001c0006t0010g0131 a0001c0006t0018g0109 a0001c0006t0020g0202 a0001c0008t0059g0029 a0001c0010t0043g0069 a0001c0025t0016g0180 a0001c0043t0033g0003 a0001c0051t0046g0060 a0001c0052t0007g0056 a0001c0053t0022g0039 a0001c0089t0055g0175 a0002c0059t0063g0144 a0002c0105t0021g0148 a0004c0011t0018g0187 a0004c0011t0091g0104 a0007c0083t0076g0037 a0008c0044t0023g0068 a0009c0021t0004g0194	23	204	0.1128	-10	c.224 others(27): Show c.224+7569_224+7578delCACACACACA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	2/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73500298	CCTCCATC others(3): Show CCTCCATCCTT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0035 a0001c0026t0035	a0001c0026t0035g0070 a0001c0026t0035g0070	1	204	0.0049	-10	c.224 others(27): Show c.224+7130_224+7139delAAGGATGGAG	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	2/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73502079	GCACATAC others(3): Show GCACATACACA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02257.hp2 HG02451.hp2 others(7): Show HG02055.hp2 HG02257.hp2 HG02451.hp2 HG02818.hp2 HG03209.hp2 HG03225.hp2 HG03704.hp2 NA19030.hp2 NA19066.hp1 NA20905.hp2	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0001 a0001c0002 a0001c0005 others(6): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0010 a0001c0025 a0001c0073 a0004c0054 a0008c0090	a0001c0001t0015 a0001c0002t0065 a0001c0005t0001 others(7): Show a0001c0001t0015 a0001c0002t0065 a0001c0005t0001 a0001c0005t0048 a0001c0006t0020 a0001c0010t0004 a0001c0025t0016 a0001c0073t0038 a0004c0054t0022 a0008c0090t0023	a0001c0001t0015g0072 a0001c0002t0065g0177 a0001c0005t0001g0050 others(7): Show a0001c0001t0015g0072 a0001c0002t0065g0177 a0001c0005t0001g0050 a0001c0005t0048g0145 a0001c0006t0020g0202 a0001c0010t0004g0164 a0001c0025t0016g0055 a0001c0073t0038g0079 a0004c0054t0022g0084 a0008c0090t0023g0071	10	204	0.0490	-10	c.224 others(27): Show c.224+5349_224+5358delTGTGTATGTG	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	2/44			chr17	TogoVar
SDR39U1_chr14_24434766_24447776	24442297	TGCGCCGC others(3): Show TGCGCCGCCCA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02280.hp2 HG02572.hp1 others(14): Show HG02055.hp2 HG02280.hp2 HG02572.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02976.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03225.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0005 a0002c0002t0002g0005	17	462	0.0368	-10	c.123 others(23): Show c.123+39_124-38delTGGGCGGCGC	SDR39U1	ENSG00000100445.18	transcript	ENST00000399395.8	protein_coding	2/5			chr14	TogoVar
SDR39U1_chr14_24434766_24447776	24443903	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02055.hp1 HG03098.hp1 HG01109.hp1 HG02055.hp1 HG03098.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0002 a0001c0001t0001 a0002c0004t0002	a0001c0001t0001g0001 a0002c0004t0002g0006 a0001c0001t0001g0001 a0002c0004t0002g0006	3	462	0.0065	-10	c.-11 others(21): Show c.-1144_-1135delAAAAAAAAAA	SDR39U1	ENSG00000100445.18	transcript	ENST00000399395.8	protein_coding		1128		chr14	TogoVar
SDR42E1_chr16_81983855_82016470	82009950	GATAGTGA others(3): Show GATAGTGAATA	G G	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	420	0.0024	-10	c.-27 others(27): Show c.-27+1427_-27+1436delTATTCACTAT	SDR42E1	ENSG00000184860.10	transcript	ENST00000328945.7	protein_coding	1/2			chr16	TogoVar
SDR42E2_chr16_22157506_22196751	22167165	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	356	0.0028	-10	c.336 others(25): Show c.336+195_336+204delTTTTTTTTTT	SDR42E2	ENSG00000183921.8	transcript	ENST00000602312.3	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SDSL_chr12_113417380_113443276	113432218	TTCTTTCT others(3): Show TTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	298	0.0034	-10	c.355 others(27): Show c.355-1914_355-1905delCTTTCTTTCT	SDSL	ENSG00000139410.15	transcript	ENST00000403593.9	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
SDSL_chr12_113417380_113443276	113441452	TGACACCC others(3): Show TGACACCCAAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0190 a0002c0002t0001g0190	1	298	0.0034	-10	c.33 others(21): Show c.3374_*3383delGACACCCAAG	SDSL	ENSG00000139410.15	transcript	ENST00000403593.9	protein_coding		3177		chr12	TogoVar
SDS_chr12_113387445_113408887	113390360	TCAATCCA others(3): Show TCAATCCAACC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	344	0.0029	-10	c.25 others(21): Show c.2571_*2580delGGTTGGATTG	SDS	ENSG00000135094.11	transcript	ENST00000257549.9	protein_coding		2084		chr12	TogoVar
SDS_chr12_113387445_113408887	113394333	TTGTTTTT others(3): Show TTGTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	344	0.0029	-10	c.654 others(25): Show c.654-327_654-318delCAAAAAAACA	SDS	ENSG00000135094.11	transcript	ENST00000257549.9	protein_coding	6/7			chr12	TogoVar
SDS_chr12_113387445_113408887	113406089	ATGTGTGT others(3): Show ATGTGTGTGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	344	0.0029	-10	c.-23 others(21): Show c.-2334_-2325delCACACACACA	SDS	ENSG00000135094.11	transcript	ENST00000257549.9	protein_coding		2203		chr12	TogoVar
SEC11A_chr15_84664544_84721139	84669343	TCACACAC others(3): Show TCACACACACA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG02818.hp1 HG03453.hp2 others(1): Show HG01256.hp1 HG02818.hp1 HG03453.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 others(1): Show a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215	4	320	0.0125	-10	c.66 others(19): Show c.666_*675delTGTGTGTGTG	SEC11A	ENSG00000140612.14	transcript	ENST00000268220.12	protein_coding		200		chr15	TogoVar
SEC11A_chr15_84664544_84721139	84700593	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01081.hp1 HG01106.hp1 others(4): Show HG00741.hp1 HG01081.hp1 HG01106.hp1 HG01256.hp1 HG01257.hp1 HG01346.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0217 a0001c0001t0001g0219 others(4): Show a0001c0001t0001g0212 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232	7	320	0.0219	-10	c.52- others(25): Show c.52-8959_52-8950delTTTTTTTTTT	SEC11A	ENSG00000140612.14	transcript	ENST00000268220.12	protein_coding	1/5			chr15	TogoVar
SEC13_chr3_10295931_10326112	10297389	ATTATTTT others(3): Show ATTATTTTATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG00673.hp2 others(57): Show HG00099.hp2 HG00639.hp2 HG00673.hp2 HG00735.hp2 HG01070.hp2 HG01081.hp2 HG01109.hp1 HG01167.hp1 HG01192.hp2 HG01255.hp1 HG01891.hp1 HG01993.hp2 HG02055.hp2 HG02071.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp1 HG02559.hp1 HG02615.hp1 HG02622.hp2 HG02717.hp1 HG02723.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03453.hp2 HG03471.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03579.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG04204.hp1 NA18522.hp1 NA18972.hp1 NA18993.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19240.hp1 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0023 others(44): Show a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0086 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0004g0062	60	380	0.1579	-10	c.38 others(21): Show c.3862_*3871delAATAAAATAA	SEC13	ENSG00000157020.18	transcript	ENST00000350697.8	protein_coding		3541		chr3	TogoVar
SEC13_chr3_10295931_10326112	10319761	TGAGAGAG others(3): Show TGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp2 NA19085.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0150 a0001c0001t0001g0151	2	380	0.0053	-10	c.3+1 others(23): Show c.3+1279_3+1288delTCTCTCTCTC	SEC13	ENSG00000157020.18	transcript	ENST00000350697.8	protein_coding	1/8			chr3	TogoVar
SEC14L1_chr17_77135969_77222101	77145127	GTGTGTGT others(3): Show GTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	430	0.0023	-10	c.63+ others(25): Show c.63+1470_63+1479delGTGTGTGTAT	SEC14L1	ENSG00000129657.16	transcript	ENST00000436233.9	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEC14L1_chr17_77135969_77222101	77169007	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp2 HG00673.hp1 others(55): Show HG00544.hp2 HG00558.hp2 HG00673.hp1 HG01943.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02129.hp1 HG02273.hp1 HG02523.hp2 HG02717.hp2 HG02818.hp1 HG03130.hp2 HG03540.hp1 HG03831.hp1 NA18939.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18952.hp1 NA18955.hp1 NA18956.hp2 NA18957.hp2 NA18961.hp2 NA18962.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18970.hp2 NA18973.hp2 NA18975.hp1 NA18978.hp2 NA18979.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18989.hp2 NA18992.hp1 NA18993.hp2 NA18994.hp2 NA19005.hp1 NA19012.hp1 NA19057.hp2 NA19063.hp2 NA19065.hp2 NA19066.hp1 NA19070.hp1 NA19076.hp2 NA19084.hp2 NA19085.hp1 NA19089.hp1	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0001c0003 a0005c0008 others(1): Show a0001c0001 a0001c0003 a0005c0008 a0007c0010	a0001c0001t0002 a0001c0001t0016 a0001c0001t0030 others(9): Show a0001c0001t0002 a0001c0001t0016 a0001c0001t0030 a0001c0001t0031 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0061 a0001c0001t0076 a0001c0003t0001 a0005c0008t0002 a0007c0010t0002	a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0020 others(53): Show a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0283 a0001c0001t0016g0060 a0001c0001t0016g0069 a0001c0001t0016g0070 a0001c0001t0030g0085 a0001c0001t0031g0088 a0001c0001t0031g0090 a0001c0001t0056g0078 a0001c0001t0057g0072 a0001c0001t0058g0071 a0001c0001t0061g0089 a0001c0001t0076g0084 a0001c0003t0001g0251 a0005c0008t0002g0073 a0007c0010t0002g0194	58	430	0.1349	-10	c.64- others(27): Show c.64-21775_64-21766delTTTTTTTTTT	SEC14L1	ENSG00000129657.16	transcript	ENST00000436233.9	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEC14L1_chr17_77135969_77222101	77180041	TTGTTTTG others(3): Show TTGTTTTGTTA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01099.hp1 HG01192.hp1 others(15): Show HG00642.hp2 HG01099.hp1 HG01192.hp1 HG02698.hp1 HG03710.hp1 HG03831.hp2 HG03927.hp2 NA18946.hp1 NA18970.hp1 NA18977.hp2 NA18990.hp1 NA18998.hp2 NA19002.hp2 NA19012.hp2 NA19062.hp1 NA19068.hp1 NA19083.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0039 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0039 a0001c0001t0050	a0001c0001t0001g0012 a0001c0001t0001g0256 a0001c0001t0001g0263 others(14): Show a0001c0001t0001g0012 a0001c0001t0001g0256 a0001c0001t0001g0263 a0001c0001t0008g0397 a0001c0001t0008g0398 a0001c0001t0008g0400 a0001c0001t0008g0401 a0001c0001t0008g0402 a0001c0001t0008g0403 a0001c0001t0008g0404 a0001c0001t0008g0405 a0001c0001t0008g0408 a0001c0001t0008g0409 a0001c0001t0008g0410 a0001c0001t0008g0411 a0001c0001t0039g0412 a0001c0001t0050g0395	18	430	0.0419	-10	c.64- others(27): Show c.64-10757_64-10748delTTGTTATGTT	SEC14L1	ENSG00000129657.16	transcript	ENST00000436233.9	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEC14L1_chr17_77135969_77222101	77180046	TTGTTATG others(3): Show TTGTTATGTTA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00733.hp1 others(57): Show HG00099.hp1 HG00323.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG01081.hp1 HG01099.hp2 HG01243.hp1 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp2 HG01934.hp1 HG01993.hp1 HG02004.hp1 HG02129.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02523.hp1 HG02523.hp2 HG02622.hp1 HG02630.hp1 HG02886.hp2 HG02970.hp2 HG03130.hp1 HG03130.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp2 NA18950.hp1 NA18950.hp2 NA18955.hp1 NA18956.hp2 NA18957.hp2 NA18962.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18969.hp2 NA18975.hp1 NA18978.hp2 NA18984.hp1 NA18985.hp1 NA18992.hp1 NA18998.hp1 NA19005.hp1 NA19012.hp1 NA19054.hp1 NA19063.hp2 NA19066.hp1 NA19070.hp1 NA19084.hp2 NA19085.hp1 NA19089.hp1 NA20752.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(11): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0016 a0001c0001t0025 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0065 a0001c0002t0004 a0001c0002t0005 a0001c0002t0052 a0001c0002t0075 a0002c0004t0013	a0001c0001t0002g0004 a0001c0001t0002g0020 a0001c0001t0002g0022 others(56): Show a0001c0001t0002g0004 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0087 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0003g0134 a0001c0001t0003g0137 a0001c0001t0003g0139 a0001c0001t0003g0147 a0001c0001t0003g0152 a0001c0001t0003g0162 a0001c0001t0007g0019 a0001c0001t0007g0037 a0001c0001t0007g0040 a0001c0001t0007g0041 a0001c0001t0007g0042 a0001c0001t0007g0132 a0001c0001t0007g0153 a0001c0001t0007g0157 a0001c0001t0016g0060 a0001c0001t0025g0392 a0001c0001t0056g0078 a0001c0001t0057g0072 a0001c0001t0058g0071 a0001c0001t0065g0045 a0001c0002t0004g0347 a0001c0002t0004g0351 a0001c0002t0004g0352 a0001c0002t0004g0355 a0001c0002t0004g0356 a0001c0002t0004g0370 a0001c0002t0005g0198 a0001c0002t0005g0322 a0001c0002t0005g0328 a0001c0002t0005g0330 a0001c0002t0005g0331 a0001c0002t0005g0371 a0001c0002t0052g0357 a0001c0002t0075g0302 a0002c0004t0013g0174 a0002c0004t0013g0175	60	430	0.1395	-10	c.64- others(27): Show c.64-10711_64-10702delTGTTATGTTA	SEC14L1	ENSG00000129657.16	transcript	ENST00000436233.9	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEC14L2_chr22_30392018_30430303	30392973	AGTGGCGG others(3): Show AGTGGCGGGAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0221 a0002c0002t0002g0221	1	420	0.0024	-10	c.-41 others(21): Show c.-4143_-4134delGTGGCGGGAT	SEC14L2	ENSG00000100003.18	transcript	ENST00000615189.5	protein_coding		4044		chr22	TogoVar
SEC14L2_chr22_30392018_30430303	30399513	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0138 a0002c0002t0004g0138	1	420	0.0024	-10	c.55- others(23): Show c.55-115_55-106delAAAAAAAAAA	SEC14L2	ENSG00000100003.18	transcript	ENST00000615189.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEC14L2_chr22_30392018_30430303	30400894	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02155.hp1 HG00597.hp1 HG02155.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0219 a0002c0002t0002g0220 a0002c0002t0002g0219 a0002c0002t0002g0220	2	420	0.0048	-10	c.130 others(27): Show c.130+1196_130+1205delAAAAAAAAAA	SEC14L2	ENSG00000100003.18	transcript	ENST00000615189.5	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEC14L4_chr22_30483902_30510695	30500754	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0209 a0001c0001t0004g0209	1	424	0.0024	-10	c.130 others(27): Show c.130+2913_130+2922delAAAAAAAAAA	SEC14L4	ENSG00000133488.15	transcript	ENST00000255858.12	protein_coding	2/11			chr22	TogoVar
SEC14L4_chr22_30483902_30510695	30501833	ACACACAC others(3): Show ACACACACACG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0004 a0003c0006t0004	a0003c0006t0004g0272 a0003c0006t0004g0272	1	424	0.0024	-10	c.130 others(27): Show c.130+1834_130+1843delCGTGTGTGTG	SEC14L4	ENSG00000133488.15	transcript	ENST00000255858.12	protein_coding	2/11			chr22	TogoVar
SEC14L4_chr22_30483902_30510695	30501866	TATATATA others(3): Show TATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0119 a0001c0003t0003g0119	1	424	0.0024	-10	c.130 others(27): Show c.130+1801_130+1810delGTATATATAT	SEC14L4	ENSG00000133488.15	transcript	ENST00000255858.12	protein_coding	2/11			chr22	TogoVar
SEC14L5_chr16_4953330_5024157	5004122	TGAGCAAA others(3): Show TGAGCAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0001 a0001c0002t0004g0001	1	376	0.0027	-10	c.130 others(27): Show c.1302+558_1302+567delAAGAGCAAAA	SEC14L5	ENSG00000103184.12	transcript	ENST00000251170.12	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
SEC14L5_chr16_4953330_5024157	5010188	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00423.hp2 others(53): Show HG00099.hp2 HG00323.hp2 HG00423.hp2 HG00738.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01175.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01496.hp1 HG01928.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02015.hp1 HG02027.hp2 HG02071.hp2 HG02080.hp2 HG02148.hp1 HG02280.hp2 HG02293.hp2 HG02523.hp2 HG02602.hp2 HG02615.hp1 HG02698.hp1 HG02723.hp1 HG03453.hp2 HG03490.hp2 HG03831.hp2 NA18747.hp2 NA18906.hp2 NA18943.hp2 NA18947.hp2 NA18967.hp1 NA18970.hp2 NA18971.hp2 NA18975.hp2 NA18983.hp2 NA18990.hp2 NA18997.hp2 NA19010.hp2 NA19063.hp1 NA19081.hp1 NA19083.hp2 NA20752.hp2 NA20805.hp2	a0001 a0006 a0007 others(2): Show a0001 a0006 a0007 a0009 a0012	a0001c0001 a0001c0003 a0001c0006 others(6): Show a0001c0001 a0001c0003 a0001c0006 a0001c0012 a0001c0026 a0006c0019 a0007c0027 a0009c0023 a0012c0031	a0001c0001t0003 a0001c0003t0003 a0001c0003t0005 others(8): Show a0001c0001t0003 a0001c0003t0003 a0001c0003t0005 a0001c0003t0037 a0001c0006t0003 a0001c0012t0039 a0001c0026t0043 a0006c0019t0003 a0007c0027t0003 a0009c0023t0003 a0012c0031t0003	a0001c0001t0003g0219 a0001c0001t0003g0280 a0001c0001t0003g0282 others(53): Show a0001c0001t0003g0219 a0001c0001t0003g0280 a0001c0001t0003g0282 a0001c0001t0003g0289 a0001c0001t0003g0292 a0001c0001t0003g0294 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0003g0300 a0001c0001t0003g0301 a0001c0003t0003g0030 a0001c0003t0003g0150 a0001c0003t0003g0155 a0001c0003t0003g0163 a0001c0003t0003g0165 a0001c0003t0003g0166 a0001c0003t0003g0172 a0001c0003t0003g0262 a0001c0003t0003g0263 a0001c0003t0003g0265 a0001c0003t0003g0268 a0001c0003t0003g0271 a0001c0003t0003g0283 a0001c0003t0003g0305 a0001c0003t0003g0307 a0001c0003t0003g0309 a0001c0003t0003g0311 a0001c0003t0003g0313 a0001c0003t0003g0319 a0001c0003t0003g0320 a0001c0003t0003g0325 a0001c0003t0003g0329 a0001c0003t0003g0331 a0001c0003t0003g0332 a0001c0003t0003g0334 a0001c0003t0003g0335 a0001c0003t0003g0339 a0001c0003t0003g0346 a0001c0003t0003g0373 a0001c0003t0003g0374 a0001c0003t0003g0375 a0001c0003t0005g0206 a0001c0003t0037g0308 a0001c0006t0003g0141 a0001c0006t0003g0143 a0001c0006t0003g0144 a0001c0006t0003g0145 a0001c0006t0003g0146 a0001c0006t0003g0147 a0001c0012t0039g0109 a0001c0026t0043g0270 a0006c0019t0003g0337 a0007c0027t0003g0167 a0009c0023t0003g0296 a0012c0031t0003g0264	56	376	0.1489	-10	c.180 others(27): Show c.1801-887_1801-878delAAAAAAAAAA	SEC14L5	ENSG00000103184.12	transcript	ENST00000251170.12	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
SEC14L5_chr16_4953330_5024157	5010208	AAAAAAAA others(3): Show AAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp2 HG00673.hp1 HG00544.hp2 HG00597.hp2 HG00673.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0011 a0001c0009t0011	a0001c0009t0011g0221 a0001c0009t0011g0284 a0001c0009t0011g0286 a0001c0009t0011g0221 a0001c0009t0011g0284 a0001c0009t0011g0286	3	376	0.0080	-10	c.180 others(27): Show c.1801-886_1801-877delAAAAAAAAAG	SEC14L5	ENSG00000103184.12	transcript	ENST00000251170.12	protein_coding	14/15			chr16	TogoVar
SEC14L6_chr22_30517799_30551741	30519279	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00423.hp1 others(45): Show HG00140.hp2 HG00280.hp1 HG00423.hp1 HG00639.hp1 HG00735.hp1 HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01123.hp1 HG01123.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01943.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02615.hp2 HG02622.hp2 HG02683.hp2 HG02886.hp1 HG03041.hp1 HG03130.hp1 HG03209.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03831.hp2 HG06807.hp1 NA18946.hp2 NA19063.hp1 NA19081.hp2 NA19240.hp1 NA20129.hp2 NA20805.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0011	a0001c0004 a0001c0007 a0001c0008 others(5): Show a0001c0004 a0001c0007 a0001c0008 a0002c0023 a0003c0005 a0003c0012 a0004c0009 a0011c0022	a0001c0004t0002 a0001c0007t0002 a0001c0008t0005 others(8): Show a0001c0004t0002 a0001c0007t0002 a0001c0008t0005 a0001c0008t0032 a0002c0023t0002 a0003c0005t0002 a0003c0005t0023 a0003c0012t0002 a0003c0012t0008 a0004c0009t0002 a0011c0022t0002	a0001c0004t0002g0030 a0001c0004t0002g0031 a0001c0004t0002g0055 others(35): Show a0001c0004t0002g0030 a0001c0004t0002g0031 a0001c0004t0002g0055 a0001c0004t0002g0069 a0001c0004t0002g0075 a0001c0004t0002g0093 a0001c0004t0002g0137 a0001c0004t0002g0138 a0001c0004t0002g0140 a0001c0004t0002g0143 a0001c0004t0002g0144 a0001c0007t0002g0056 a0001c0007t0002g0231 a0001c0008t0005g0008 a0001c0008t0005g0023 a0001c0008t0005g0088 a0001c0008t0032g0278 a0002c0023t0002g0208 a0003c0005t0002g0010 a0003c0005t0002g0029 a0003c0005t0002g0049 a0003c0005t0002g0054 a0003c0005t0002g0064 a0003c0005t0002g0074 a0003c0005t0002g0132 a0003c0005t0002g0133 a0003c0005t0002g0135 a0003c0005t0002g0136 a0003c0005t0023g0134 a0003c0012t0002g0098 a0003c0012t0008g0032 a0003c0012t0008g0148 a0004c0009t0002g0038 a0004c0009t0002g0188 a0004c0009t0002g0200 a0004c0009t0002g0201 a0004c0009t0002g0230 a0011c0022t0002g0024	48	396	0.1212	-10	c.57 others(21): Show c.5708_*5717delTTTTTTTTTT	SEC14L6	ENSG00000214491.9	transcript	ENST00000402034.7	protein_coding		3519		chr22	TogoVar
SEC16A_chr9_136435105_136488040	136453074	AAAAAAAA others(3): Show AAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00733.hp2 HG00735.hp1 others(34): Show HG00099.hp2 HG00733.hp2 HG00735.hp1 HG01081.hp1 HG01109.hp2 HG01123.hp2 HG01192.hp2 HG01243.hp1 HG01261.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG01952.hp2 HG01975.hp2 HG02257.hp1 HG02273.hp1 HG02300.hp1 HG02486.hp2 HG02559.hp2 HG02895.hp2 HG02897.hp1 HG03139.hp2 HG03669.hp2 HG04184.hp2 HG04204.hp1 NA18747.hp1 NA18945.hp2 NA18954.hp2 NA18959.hp2 NA18966.hp1 NA18971.hp2 NA18975.hp1 NA18982.hp2 NA18984.hp1 NA19066.hp1 NA19077.hp1	a0001 a0002 a0015 others(5): Show a0001 a0002 a0015 a0018 a0021 a0022 a0033 a0034	a0001c0033 a0002c0003 a0002c0012 others(7): Show a0001c0033 a0002c0003 a0002c0012 a0002c0036 a0015c0032 a0018c0037 a0021c0035 a0022c0034 a0033c0038 a0034c0039	a0001c0033t0003 a0002c0003t0003 a0002c0012t0003 others(7): Show a0001c0033t0003 a0002c0003t0003 a0002c0012t0003 a0002c0036t0003 a0015c0032t0003 a0018c0037t0003 a0021c0035t0003 a0022c0034t0003 a0033c0038t0003 a0034c0039t0003	a0001c0033t0003g0252 a0002c0003t0003g0025 a0002c0003t0003g0026 others(32): Show a0001c0033t0003g0252 a0002c0003t0003g0025 a0002c0003t0003g0026 a0002c0003t0003g0218 a0002c0003t0003g0219 a0002c0003t0003g0220 a0002c0003t0003g0221 a0002c0003t0003g0223 a0002c0003t0003g0224 a0002c0003t0003g0225 a0002c0003t0003g0228 a0002c0003t0003g0229 a0002c0003t0003g0231 a0002c0003t0003g0234 a0002c0003t0003g0236 a0002c0003t0003g0237 a0002c0003t0003g0238 a0002c0003t0003g0239 a0002c0003t0003g0240 a0002c0003t0003g0244 a0002c0003t0003g0245 a0002c0003t0003g0246 a0002c0003t0003g0247 a0002c0003t0003g0248 a0002c0003t0003g0251 a0002c0012t0003g0241 a0002c0012t0003g0242 a0002c0012t0003g0243 a0002c0036t0003g0227 a0015c0032t0003g0230 a0018c0037t0003g0249 a0021c0035t0003g0233 a0022c0034t0003g0232 a0033c0038t0003g0250 a0034c0039t0003g0222	37	306	0.1209	-10	c.615 others(27): Show c.6159+344_6159+353delCTTTTTTTTT	SEC16A	ENSG00000148396.19	transcript	ENST00000684901.1	protein_coding	22/31			chr9	TogoVar
SEC16A_chr9_136435105_136488040	136487538	ATAGCAGG others(3): Show ATAGCAGGTCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	306	0.0033	-10	c.-48 others(21): Show c.-4802_-4793delAGACCTGCTA	SEC16A	ENSG00000148396.19	transcript	ENST00000684901.1	protein_coding		4499		chr9	TogoVar
SEC16B_chr1_177923788_177975058	177948922	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03098.hp1 HG02970.hp1 HG03098.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0089 a0001c0006t0001g0244 a0001c0006t0001g0089 a0001c0006t0001g0244	2	408	0.0049	-10	c.154 others(27): Show c.1546-990_1546-981delGTGTGTGTGT	SEC16B	ENSG00000120341.19	transcript	ENST00000308284.11	protein_coding	12/25			chr1	TogoVar
SEC16B_chr1_177923788_177975058	177949383	AACACACA others(3): Show AACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01123.hp2 HG01169.hp2 others(13): Show HG00621.hp2 HG01123.hp2 HG01169.hp2 HG02074.hp2 HG02083.hp1 HG02155.hp1 HG02698.hp2 HG02809.hp2 HG02818.hp2 HG02965.hp2 HG02976.hp2 HG03209.hp2 HG03471.hp1 HG03831.hp1 HG03834.hp1 NA19043.hp1	a0001 a0001	a0001c0004 a0001c0006 a0001c0007 others(2): Show a0001c0004 a0001c0006 a0001c0007 a0001c0021 a0001c0036	a0001c0004t0001 a0001c0006t0001 a0001c0006t0007 others(3): Show a0001c0004t0001 a0001c0006t0001 a0001c0006t0007 a0001c0007t0001 a0001c0021t0001 a0001c0036t0001	a0001c0004t0001g0071 a0001c0004t0001g0091 a0001c0004t0001g0158 others(13): Show a0001c0004t0001g0071 a0001c0004t0001g0091 a0001c0004t0001g0158 a0001c0004t0001g0255 a0001c0004t0001g0257 a0001c0004t0001g0260 a0001c0004t0001g0261 a0001c0004t0001g0263 a0001c0006t0001g0305 a0001c0006t0007g0253 a0001c0007t0001g0242 a0001c0021t0001g0278 a0001c0021t0001g0279 a0001c0021t0001g0326 a0001c0036t0001g0121 a0001c0036t0001g0122	16	408	0.0392	-10	c.154 others(29): Show c.1546-1451_1546-1442delGTGTGTGTGT	SEC16B	ENSG00000120341.19	transcript	ENST00000308284.11	protein_coding	12/25			chr1	TogoVar
SEC22A_chr3_123196943_123279136	123198865	TTTTAATA others(3): Show TTTTAATAAGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0105 a0001c0001t0004g0105	1	340	0.0029	-10	c.-31 others(21): Show c.-3140_-3131delTTTAATAAGA	SEC22A	ENSG00000121542.12	transcript	ENST00000492595.6	protein_coding		3077		chr3	TogoVar
SEC22A_chr3_123196943_123279136	123203053	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	340	0.0029	-10	c.-20 others(27): Show c.-20+1092_-20+1101delTTTTTTTTTT	SEC22A	ENSG00000121542.12	transcript	ENST00000492595.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
SEC22A_chr3_123196943_123279136	123260131	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00741.hp2 HG01167.hp2 others(6): Show HG00280.hp2 HG00741.hp2 HG01167.hp2 HG01346.hp2 HG02109.hp2 HG02886.hp1 HG06807.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0255 a0001c0001t0001g0278 a0001c0001t0001g0308 others(6): Show a0001c0001t0001g0255 a0001c0001t0001g0278 a0001c0001t0001g0308 a0001c0001t0004g0007 a0001c0001t0004g0008 a0001c0001t0004g0009 a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0013	9	340	0.0265	-10	c.723 others(25): Show c.723+571_723+580delAAAAAAAAAA	SEC22A	ENSG00000121542.12	transcript	ENST00000492595.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
SEC22B_chr1_120145898_120181520	120166396	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA19066.hp2 HG02074.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0132 a0001c0001t0006g0153 a0001c0001t0001g0132 a0001c0001t0006g0153	2	380	0.0053	-10	c.185 others(27): Show c.185+2434_185+2443delGTGTGTGTGT	SEC22B	ENSG00000265808.4	transcript	ENST00000578049.4	protein_coding	2/4			chr1	TogoVar

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