Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SCML4_chr6_107697154_107829313	107802668	TCCCTCCT others(14): Show TCCCTCCTCTCCCTCTCCCTCC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02922.hp2 HG03098.hp1 others(4): Show HG02630.hp2 HG02922.hp2 HG03098.hp1 HG03453.hp2 HG03516.hp2 HG03927.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0021 a0001c0002t0010 a0001c0002t0026 a0001c0003t0007	a0001c0001t0001g0076 a0001c0001t0002g0199 a0001c0001t0006g0077 others(4): Show a0001c0001t0001g0076 a0001c0001t0002g0199 a0001c0001t0006g0077 a0001c0001t0021g0013 a0001c0002t0010g0134 a0001c0002t0026g0073 a0001c0003t0007g0074	7	250	0.0280	-21	c.-60 others(40): Show c.-60+21437_-60+21457delGGAGGGAGAGGGAGAGGAGGG		SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7						chr6	TogoVar
SCML4_chr6_107697154_107829313	107804049	CAAAAAAA others(14): Show CAAAAAAAAAAAGAAAAAGAAA	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01243.hp2 others(31): Show HG01167.hp1 HG01169.hp1 HG01243.hp2 HG01884.hp1 HG01891.hp1 HG02055.hp2 HG02109.hp2 HG02257.hp2 HG02451.hp2 HG02615.hp1 HG02622.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02976.hp2 HG03041.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03453.hp2 HG03471.hp2 HG03540.hp2 HG03579.hp2 NA18522.hp2 NA18906.hp1 NA18977.hp1 NA18988.hp2 NA19054.hp2 NA19060.hp2 NA19079.hp1 NA19090.hp1 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0001c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0013 a0001c0001t0014 a0001c0001t0019 a0001c0002t0001 a0001c0002t0008 a0001c0002t0010 a0001c0002t0029 a0001c0003t0007 a0001c0003t0012 a0001c0003t0015 a0001c0009t0001 a0001c0010t0007	a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 others(31): Show a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0003g0012 a0001c0001t0003g0039 a0001c0001t0004g0146 a0001c0001t0006g0138 a0001c0001t0013g0156 a0001c0001t0014g0128 a0001c0001t0019g0075 a0001c0001t0019g0137 a0001c0002t0001g0164 a0001c0002t0008g0145 a0001c0002t0010g0129 a0001c0002t0010g0134 a0001c0002t0010g0148 a0001c0002t0010g0163 a0001c0002t0029g0151 a0001c0003t0007g0045 a0001c0003t0007g0127 a0001c0003t0012g0130 a0001c0003t0012g0131 a0001c0003t0012g0132 a0001c0003t0012g0133 a0001c0003t0012g0135 a0001c0003t0012g0136 a0001c0003t0015g0160 a0001c0003t0015g0161 a0001c0003t0015g0162 a0001c0009t0001g0139 a0001c0010t0007g0140 a0001c0010t0007g0141	34	250	0.1360	-21	c.-60 others(40): Show c.-60+20056_-60+20076delTTTCTTTTTCTTTTTTTTTTT		SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7						chr6	TogoVar
SCML4_chr6_107697154_107829313	107813368	AATTATAT others(14): Show AATTATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0080 a0001c0001t0003g0080	1	250	0.0040	-21	c.-60 others(40): Show c.-60+10737_-60+10757delATATATATATATATATATAAT		SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7						chr6	TogoVar
SCN10A_chr3_38691807_38821217	38719367	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG04199.hp1 HG01978.hp2 HG04199.hp1	a0001 a0005 a0001 a0005	a0001c0027 a0005c0013 a0001c0027 a0005c0013	a0001c0027t0001 a0005c0013t0001 a0001c0027t0001 a0005c0013t0001	a0001c0027t0001g0019 a0005c0013t0001g0076 a0001c0027t0001g0019 a0005c0013t0001g0076	2	372	0.0054	-21	c.350 others(38): Show c.3508-562_3508-542delAAAAAAAAAAAAAAAAAAAAA		SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	20/27						chr3	TogoVar
SCN11A_chr3_38840764_39056944	38963372	TATATATA others(14): Show TATATATATATATATGATGGAG	T T	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA19063.hp1 NA19090.hp1 NA18952.hp2 NA19063.hp1 NA19090.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0049 a0001c0002t0004g0050 a0001c0002t0004g0051 a0001c0002t0004g0049 a0001c0002t0004g0050 a0001c0002t0004g0051	3	314	0.0096	-21	c.-27 others(40): Show c.-279-2970_-279-2950delCTCCATCATATATATATATAT		SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	2/29						chr3	TogoVar
SCN1A_chr2_165980813_166133020	166123223	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG01496.hp2 others(10): Show HG00140.hp1 HG00408.hp2 HG01496.hp2 HG01891.hp1 HG02559.hp2 HG02886.hp1 HG03225.hp1 HG03471.hp1 HG03486.hp2 HG03579.hp1 NA19000.hp2 NA19006.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0049 a0001c0001t0060 a0001c0001t0068 a0001c0001t0069 a0001c0003t0034	a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0003g0242 others(10): Show a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0003g0242 a0001c0001t0006g0286 a0001c0001t0006g0289 a0001c0001t0006g0290 a0001c0001t0006g0292 a0001c0001t0049g0291 a0001c0001t0060g0350 a0001c0001t0068g0288 a0001c0001t0069g0287 a0001c0003t0034g0069 a0001c0003t0034g0070	13	356	0.0365	-21	c.-14 others(40): Show c.-142+3680_-142+3700delTTTTTTTTTTTTTTTTTTTTT		SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	2/28						chr2	TogoVar
SCN3A_chr2_165082526_165209050	165156512	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02647.hp2 HG03098.hp1 others(3): Show HG00741.hp1 HG02647.hp2 HG03098.hp1 HG03130.hp1 NA19030.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0004t0002 a0001c0004t0006 a0001c0002t0002 a0001c0004t0002 a0001c0004t0006	a0001c0002t0002g0054 a0001c0004t0002g0042 a0001c0004t0002g0044 others(3): Show a0001c0002t0002g0054 a0001c0004t0002g0042 a0001c0004t0002g0044 a0001c0004t0006g0043 a0001c0004t0006g0045 a0001c0004t0006g0053	6	314	0.0191	-21	c.103 others(38): Show c.1032-630_1032-610delTTTTTTTTTTTTTTTTTTTTT		SCN3A	ENSG00000153253.20	transcript	ENST00000283254.12	protein_coding	9/27						chr2	TogoVar
SCN5A_chr3_38543062_38654687	38555082	TATATATA others(14): Show TATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01981.hp1 HG01891.hp2 HG01981.hp1	a0001 a0009 a0001 a0009	a0001c0008 a0009c0042 a0001c0008 a0009c0042	a0001c0008t0002 a0009c0042t0002 a0001c0008t0002 a0009c0042t0002	a0001c0008t0002g0025 a0009c0042t0002g0056 a0001c0008t0002g0025 a0009c0042t0002g0056	2	340	0.0059	-21	c.454 others(38): Show c.4542+553_4543-534delTATATATATATATATATATAT		SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding	26/27						chr3	TogoVar
SCN8A_chr12_51586233_51817864	51721101	ATATATAA others(14): Show ATATATAATATTTATTTATTGT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01168.hp2 HG01169.hp1 others(12): Show HG00639.hp1 HG01168.hp2 HG01169.hp1 HG01255.hp2 HG01346.hp1 HG01496.hp1 HG01928.hp1 HG01934.hp1 HG02040.hp1 HG02970.hp1 HG04204.hp2 NA18946.hp1 NA19000.hp2 NA19030.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0028 a0001c0002t0001 others(3): Show a0001c0001t0003 a0001c0001t0028 a0001c0002t0001 a0001c0002t0007 a0001c0002t0023 a0001c0002t0026	a0001c0001t0003g0037 a0001c0001t0003g0042 a0001c0001t0003g0047 others(12): Show a0001c0001t0003g0037 a0001c0001t0003g0042 a0001c0001t0003g0047 a0001c0001t0003g0145 a0001c0001t0003g0192 a0001c0001t0028g0006 a0001c0002t0001g0048 a0001c0002t0001g0135 a0001c0002t0001g0139 a0001c0002t0001g0141 a0001c0002t0001g0185 a0001c0002t0001g0191 a0001c0002t0007g0136 a0001c0002t0023g0152 a0001c0002t0026g0050	15	202	0.0743	-21	c.163 others(38): Show c.1636-438_1636-418delATATTTATTTATTGTTATATA		SCN8A	ENSG00000196876.19	transcript	ENST00000354534.11	protein_coding	11/26					INFO_REALIGN_3_PRIME	chr12	TogoVar
SCN9A_chr2_166190185_166380944	166199975	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG03225.hp2 HG03453.hp1 others(1): Show HG01496.hp1 HG03225.hp2 HG03453.hp1 NA19240.hp1	a0001 a0004 a0001 a0004	a0001c0003 a0001c0005 a0001c0007 others(1): Show a0001c0003 a0001c0005 a0001c0007 a0004c0008	a0001c0003t0012 a0001c0005t0012 a0001c0007t0012 others(1): Show a0001c0003t0012 a0001c0005t0012 a0001c0007t0012 a0004c0008t0022	a0001c0003t0012g0261 a0001c0005t0012g0022 a0001c0007t0012g0018 others(1): Show a0001c0003t0012g0261 a0001c0005t0012g0022 a0001c0007t0012g0018 a0004c0008t0022g0010	4	296	0.0135	-21	c.477 others(38): Show c.4775-132_4775-112delAAAAAAAAAAAAAAAAAAAAA		SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	26/26						chr2	TogoVar
SCN9A_chr2_166190185_166380944	166323750	GTAATATG others(14): Show GTAATATGTTGTGCTTTTGTAA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02647.hp1 HG03225.hp2 HG02109.hp1 HG02647.hp1 HG03225.hp2	a0001 a0004 a0001 a0004	a0001c0005 a0001c0011 a0004c0024 a0001c0005 a0001c0011 a0004c0024	a0001c0005t0012 a0001c0011t0018 a0004c0024t0016 a0001c0005t0012 a0001c0011t0018 a0004c0024t0016	a0001c0005t0012g0022 a0001c0011t0018g0021 a0004c0024t0016g0020 a0001c0005t0012g0022 a0001c0011t0018g0021 a0004c0024t0016g0020	3	296	0.0101	-21	c.-50 others(40): Show c.-50-11965_-50-11945delTTACAAAAGCACAACATATTA		SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	1/26						chr2	TogoVar
SCNN1B_chr16_23297302_23386294	23346656	TTGCAGGC others(14): Show TTGCAGGCTCCCTCCCCACCCC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01070.hp1 HG01071.hp2 others(16): Show HG00735.hp1 HG01070.hp1 HG01071.hp2 HG01123.hp1 HG01168.hp2 HG01358.hp1 HG01993.hp1 HG02145.hp1 HG02451.hp2 HG02818.hp2 HG03139.hp1 HG03225.hp1 HG03453.hp2 HG03710.hp1 NA18965.hp1 NA18971.hp1 NA18977.hp2 NA19011.hp2 NA19074.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0003 a0002c0007 others(1): Show a0001c0001 a0001c0003 a0002c0007 a0008c0011	a0001c0001t0001 a0001c0001t0004 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0003t0001 a0002c0007t0001 a0008c0011t0001	a0001c0001t0001g0085 a0001c0001t0001g0120 a0001c0001t0001g0132 others(16): Show a0001c0001t0001g0085 a0001c0001t0001g0120 a0001c0001t0001g0132 a0001c0001t0001g0138 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0186 a0001c0001t0001g0210 a0001c0001t0001g0220 a0001c0001t0001g0226 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0260 a0001c0001t0001g0267 a0001c0001t0001g0271 a0001c0001t0004g0086 a0001c0003t0001g0113 a0002c0007t0001g0087 a0008c0011t0001g0119	19	306	0.0621	-21	c.-8- others(36): Show c.-8-1896_-8-1876delCCCTGCAGGCTCCCTCCCCAC		SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1D_chr1_1275436_1297025	1288699	TCCCCCGA others(14): Show TCCCCCGAGTCTCTGCTCCGTC	T T	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0085 a0002c0002t0001g0085	1	290	0.0035	-21	c.166 others(38): Show c.1662+665_1662+685delCCCGAGTCTCTGCTCCGTCCC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCRT1_chr8_144325565_144341482	144328778	AGGCCCAG others(14): Show AGGCCCAGACCTGTCTGAGTAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0007 a0001c0001t0007g0007	1	398	0.0025	-21	c.43 others(32): Show c.4386_*4406delATACTCAGACAGGTCTGGGCC		SCRT1	ENSG00000261678.3	transcript	ENST00000569446.3	protein_coding					1786		chr8	TogoVar
SCT_chr11_621309_632181	628946	TTTCTTTC others(14): Show TTTCTTTCTTTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	411	0.0024	-21	c.-18 others(32): Show c.-1824_-1804delGAAAGAAAGAAAAAGAAAGAA		SCT	ENSG00000070031.4	transcript	ENST00000176195.4	protein_coding					1766		chr11	TogoVar
SCUBE1_chr22_43192280_43348372	43281029	CTCCTCAG others(14): Show CTCCTCAGCTATCCTGTCACCT	C C	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0041 a0001c0041	a0001c0041t0040 a0001c0041t0040	a0001c0041t0040g0134 a0001c0041t0040g0134	1	280	0.0036	-21	c.484 others(39): Show c.484+9996_484+10016delAGGTGACAGGATAGCTGAGGA		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21						chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281030	TCCTCAGC others(14): Show TCCTCAGCTATCCTGTCACCTC	T T	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA19068.hp2 NA18990.hp2 NA19068.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0007 a0002c0002 a0003c0007	a0002c0002t0013 a0003c0007t0001 a0002c0002t0013 a0003c0007t0001	a0002c0002t0013g0175 a0003c0007t0001g0193 a0002c0002t0013g0175 a0003c0007t0001g0193	2	280	0.0071	-21	c.484 others(39): Show c.484+9995_484+10015delGAGGTGACAGGATAGCTGAGG		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21						chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281106	AGTCACCC others(14): Show AGTCACCCTGTCACCTCCCTTG	A A	intron_variant intron_variant	MODIFIER	HG03710.hp2 NA19043.hp2 HG03710.hp2 NA19043.hp2	a0002 a0003 a0002 a0003	a0002c0014 a0003c0001 a0002c0014 a0003c0001	a0002c0014t0026 a0003c0001t0001 a0002c0014t0026 a0003c0001t0001	a0002c0014t0026g0130 a0003c0001t0001g0154 a0002c0014t0026g0130 a0003c0001t0001g0154	2	280	0.0071	-21	c.484 others(38): Show c.484+9919_484+9939delCAAGGGAGGTGACAGGGTGAC		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21						chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281147	CTCCTCAG others(14): Show CTCCTCAGCTATCCTGTCACCT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0025 a0002c0009t0025	a0002c0009t0025g0259 a0002c0009t0025g0259	1	280	0.0036	-21	c.484 others(38): Show c.484+9878_484+9898delAGGTGACAGGATAGCTGAGGA		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21						chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281148	TCCTCAGC others(14): Show TCCTCAGCTATCCTGTCACCTC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0113 a0002c0002t0002g0113	1	280	0.0036	-21	c.484 others(38): Show c.484+9877_484+9897delGAGGTGACAGGATAGCTGAGG		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21						chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281224	AGTCACCC others(14): Show AGTCACCCTGTCACCTCCCTTG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02717.hp1 HG02886.hp1 others(1): Show HG02572.hp2 HG02717.hp1 HG02886.hp1 NA20300.hp1	a0002 a0002	a0002c0009 a0002c0014 a0002c0024 a0002c0009 a0002c0014 a0002c0024	a0002c0009t0025 a0002c0014t0014 a0002c0024t0034 others(1): Show a0002c0009t0025 a0002c0014t0014 a0002c0024t0034 a0002c0024t0073	a0002c0009t0025g0259 a0002c0014t0014g0260 a0002c0024t0034g0018 others(1): Show a0002c0009t0025g0259 a0002c0014t0014g0260 a0002c0024t0034g0018 a0002c0024t0073g0258	4	280	0.0143	-21	c.484 others(38): Show c.484+9801_484+9821delCAAGGGAGGTGACAGGGTGAC		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21						chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281265	CTCCTCAG others(14): Show CTCCTCAGCTACCCTGTCACCT	C C	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0041 a0001c0041	a0001c0041t0040 a0001c0041t0040	a0001c0041t0040g0134 a0001c0041t0040g0134	1	280	0.0036	-21	c.484 others(38): Show c.484+9760_484+9780delAGGTGACAGGGTAGCTGAGGA		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21						chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281266	TCCTCAGC others(14): Show TCCTCAGCTACCCTGTCACCTC	T T	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0193 a0003c0007t0001g0193	1	280	0.0036	-21	c.484 others(38): Show c.484+9759_484+9779delGAGGTGACAGGGTAGCTGAGG		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21						chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281345	AGTCACCC others(14): Show AGTCACCCTGTCACCTCCCTTG	A A	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0036 a0002c0002t0002g0036	1	280	0.0036	-21	c.484 others(38): Show c.484+9680_484+9700delCAAGGGAGGTGACAGGGTGAC		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21						chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281347	TCACCCTG others(14): Show TCACCCTGTCACCTCCCTTGGC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0005 a0001c0020t0005	a0001c0020t0005g0026 a0001c0020t0005g0026	1	280	0.0036	-21	c.484 others(38): Show c.484+9678_484+9698delGCCAAGGGAGGTGACAGGGTG		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21						chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281387	TCCTCAGC others(14): Show TCCTCAGCTATCCTGTCACCTC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA19002.hp2 HG02886.hp1 NA19002.hp2	a0002 a0003 a0002 a0003	a0002c0009 a0003c0001 a0002c0009 a0003c0001	a0002c0009t0025 a0003c0001t0001 a0002c0009t0025 a0003c0001t0001	a0002c0009t0025g0259 a0003c0001t0001g0158 a0002c0009t0025g0259 a0003c0001t0001g0158	2	280	0.0071	-21	c.484 others(38): Show c.484+9638_484+9658delGAGGTGACAGGATAGCTGAGG		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21						chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281435	TTGGCCAC others(14): Show TTGGCCACCCTCCTGTCATCTC	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03130.hp2 HG03831.hp2 HG02723.hp2 HG03130.hp2 HG03831.hp2	a0002 a0005 a0018 a0002 a0005 a0018	a0002c0014 a0005c0029 a0018c0037 a0002c0014 a0005c0029 a0018c0037	a0002c0014t0026 a0005c0029t0014 a0018c0037t0002 a0002c0014t0026 a0005c0029t0014 a0018c0037t0002	a0002c0014t0026g0235 a0005c0029t0014g0239 a0018c0037t0002g0136 a0002c0014t0026g0235 a0005c0029t0014g0239 a0018c0037t0002g0136	3	280	0.0107	-21	c.484 others(38): Show c.484+9590_484+9610delGAGATGACAGGAGGGTGGCCA		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21						chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281436	TGGCCACC others(14): Show TGGCCACCCTCCTGTCATCTCC	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG03041.hp2 others(1): Show HG02896.hp2 HG02897.hp2 HG03041.hp2 HG03225.hp2	a0001 a0003 a0015 others(1): Show a0001 a0003 a0015 a0016	a0001c0020 a0003c0001 a0015c0033 others(1): Show a0001c0020 a0003c0001 a0015c0033 a0016c0032	a0001c0020t0017 a0003c0001t0051 a0015c0033t0005 others(1): Show a0001c0020t0017 a0003c0001t0051 a0015c0033t0005 a0016c0032t0022	a0001c0020t0017g0014 a0003c0001t0051g0142 a0015c0033t0005g0076 others(1): Show a0001c0020t0017g0014 a0003c0001t0051g0142 a0015c0033t0005g0076 a0016c0032t0022g0075	4	280	0.0143	-21	c.484 others(38): Show c.484+9589_484+9609delGGAGATGACAGGAGGGTGGCC		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21						chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43321567	TGTGCAGC others(14): Show TGTGCAGCCACTCTTGGTGTCC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0008 a0001c0018t0008	a0001c0018t0008g0029 a0001c0018t0008g0029	1	280	0.0036	-21	c.221 others(38): Show c.221-1523_221-1503delGGACACCAAGAGTGGCTGCAC		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	2/21						chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43334600	GCACCATC others(14): Show GCACCATCAACATTATCATCAC	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01169.hp2 HG01515.hp2 HG01069.hp1 HG01169.hp2 HG01515.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0001c0012 a0003c0001 a0001c0003 a0001c0012 a0003c0001	a0001c0003t0055 a0001c0012t0043 a0003c0001t0001 a0001c0003t0055 a0001c0012t0043 a0003c0001t0001	a0001c0003t0055g0187 a0001c0012t0043g0161 a0003c0001t0001g0157 a0001c0003t0055g0187 a0001c0012t0043g0161 a0003c0001t0001g0157	3	280	0.0107	-21	c.220 others(38): Show c.220+4483_220+4503delGTGATGATAATGTTGATGGTG		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	2/21						chr22	TogoVar
SCYGR3_chr2_227609538_227619840	227617097	GAGAGATG others(14): Show GAGAGATGGAAAAGCAGCTGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	1	462	0.0022	-21	c.-22 others(32): Show c.-2278_-2258delGCCAGCTGCTTTTCCATCTCT		SCYGR3	ENSG00000284704.1	transcript	ENST00000642029.1	protein_coding					2258		chr2	TogoVar
SCYGR4_chr2_227612498_227622815	227617097	GAGAGATG others(14): Show GAGAGATGGAAAAGCAGCTGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	458	0.0022	-21	c.-40 others(30): Show c.-400_-380delAGAGATGGAAAAGCAGCTGGC		SCYGR4	ENSG00000284631.2	transcript	ENST00000641801.2	protein_coding					400		chr2	TogoVar
SCYGR5_chr2_227661804_227672061	227669569	TAAAATAA others(14): Show TAAAATAAAATAAAATAAAATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	460	0.0022	-21	c.25 others(32): Show c.2509_*2529delAAAATAAAATAAAATAAAATA		SCYGR5	ENSG00000284667.1	transcript	ENST00000641976.1	protein_coding					2509		chr2	TogoVar
SCYGR7_chr2_227723335_227733625	227728358	TTGTGGTG others(14): Show TTGTGGTGGCTGCGGTGGTGGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02015.hp1 HG02015.hp1	a0014 a0014	a0014c0021 a0014c0021	a0014c0021t0001 a0014c0021t0001	a0014c0021t0001g0000 a0014c0021t0001g0000	1	456	0.0022	-21	c.48_ others(26): Show c.48_68delTGGTGGCTGCGGTGGTGGCTG	p.Gly others(11): Show p.Gly17_Cys23del	SCYGR7	ENSG00000284718.1	transcript	ENST00000641700.1	protein_coding	1/1	48/291	48/291	16/96		INFO_REALIGN_3_PRIME	chr2	TogoVar
SDC2_chr8_96488813_96616790	96489421	TATGTATT others(14): Show TATGTATTTTAGTCCATAAATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0251 a0003c0004t0001g0251	1	334	0.0030	-21	c.-48 others(32): Show c.-4850_-4830delATGTATTTTAGTCCATAAATA		SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding					4391		chr8	TogoVar
SDCCAG8_chr1_243251041_243505091	243480319	GGGTGGGA others(14): Show GGGTGGGATGGATGGATGGATA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01257.hp1 HG01258.hp1 others(1): Show HG01243.hp1 HG01257.hp1 HG01258.hp1 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 others(1): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008	4	189	0.0212	-21	c.198 others(40): Show c.1986-8680_1986-8660delATGGATAGGTGGGATGGATGG		SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	4012549	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03491.hp2 NA19030.hp2 HG03491.hp2 NA19030.hp2	a0002 a0035 a0002 a0035	a0002c0031 a0035c0052 a0002c0031 a0035c0052	a0002c0031t0034 a0035c0052t0062 a0002c0031t0034 a0035c0052t0062	a0002c0031t0034g0083 a0035c0052t0062g0019 a0002c0031t0034g0083 a0035c0052t0062g0019	2	116	0.0172	-21	c.242 others(38): Show c.2420+337_2420+357delTTTTTTTTTTTTTTTTTTTTT		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	16/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4084684	ATGTTATG others(14): Show ATGTTATGTTATGTTATGTTAT	A A	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0017 a0012c0015t0017	a0012c0015t0017g0059 a0012c0015t0017g0059	1	116	0.0086	-21	c.332 others(40): Show c.3324+5101_3324+5121delTGTTATGTTATGTTATGTTAT		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	22/44						chr7	TogoVar
SDK2_chr17_73329384_73649445	73457265	TCCTTCCT others(14): Show TCCTTCCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0030 a0030	a0030c0117 a0030c0117	a0030c0117t0094 a0030c0117t0094	a0030c0117t0094g0179 a0030c0117t0094g0179	1	204	0.0049	-21	c.332 others(38): Show c.332-1233_332-1213delGAAGGAAGGAAGGAAGGAAGG		SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	3/44						chr17	TogoVar
SDSL_chr12_113417380_113443276	113432268	CTTTCTTT others(14): Show CTTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	298	0.0034	-21	c.355 others(38): Show c.355-1863_355-1843delTCTTTCTTTCTTTCTTTCTTT		SDSL	ENSG00000139410.15	transcript	ENST00000403593.9	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr12	TogoVar
SEC11A_chr15_84664544_84721139	84700593	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01255.hp2 HG03098.hp2 others(2): Show HG01167.hp1 HG01255.hp2 HG03098.hp2 HG03225.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 others(2): Show a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0073 a0001c0001t0001g0174	5	320	0.0156	-21	c.52- others(36): Show c.52-8970_52-8950delTTTTTTTTTTTTTTTTTTTTT		SEC11A	ENSG00000140612.14	transcript	ENST00000268220.12	protein_coding	1/5						chr15	TogoVar
SEC11C_chr18_59134884_59163832	59142208	ATATTTTT others(14): Show ATATTTTTGTGTATTTGGACAT	A A	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	444	0.0023	-21	c.87+ others(36): Show c.87+2175_87+2195delATTTTTGTGTATTTGGACATT		SEC11C	ENSG00000166562.9	transcript	ENST00000587834.6	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr18	TogoVar
SEC14L3_chr22_30454229_30477017	30455130	ATATTTAA others(14): Show ATATTTAATATTTAATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0015 a0015	a0015c0011 a0015c0011	a0015c0011t0001 a0015c0011t0001	a0015c0011t0001g0138 a0015c0011t0001g0138	1	454	0.0022	-21	c.48 others(32): Show c.4870_*4890delATATATATTAAATATTAAATA		SEC14L3	ENSG00000100012.12	transcript	ENST00000215812.9	protein_coding					4098		chr22	TogoVar
SEC14L3_chr22_30454229_30477017	30455145	TATATATT others(14): Show TATATATTATATTTAATATTTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA20752.hp2 NA19240.hp2 NA20752.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0001 a0004c0004t0001g0162 a0001c0001t0001g0001 a0004c0004t0001g0162	2	454	0.0044	-21	c.48 others(32): Show c.4855_*4875delTAAATATTAAATATAATATAT		SEC14L3	ENSG00000100012.12	transcript	ENST00000215812.9	protein_coding					4083		chr22	TogoVar
SEC22A_chr3_123196943_123279136	123203053	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0157 a0001c0001t0013g0157	1	340	0.0029	-21	c.-20 others(38): Show c.-20+1081_-20+1101delTTTTTTTTTTTTTTTTTTTTT		SEC22A	ENSG00000121542.12	transcript	ENST00000492595.6	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr3	TogoVar
SEC23A_chr14_39026919_39108235	39059278	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0349 a0001c0001t0001g0349	1	366	0.0027	-21	c.150 others(40): Show c.1505+2466_1505+2486delTTTTTTTTTTTTTTTTTTTTT		SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	13/19						chr14	TogoVar
SEC23A_chr14_39026919_39108235	39094428	ATATATAT others(14): Show ATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02451.hp2 HG02572.hp2 others(3): Show HG01243.hp2 HG02451.hp2 HG02572.hp2 HG02615.hp1 HG02818.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 others(3): Show a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0335	6	366	0.0164	-21	c.222 others(38): Show c.222-1205_222-1185delAAAAAAATATATATATATATA		SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19						chr14	TogoVar
SECTM1_chr17_82316024_82338766	82323060	CCCCTACC others(14): Show CCCCTACCTCCTCCGTGTAGCT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02647.hp1 HG03209.hp2 HG02572.hp1 HG02647.hp1 HG03209.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0016 a0002c0003t0017 a0002c0003t0018 a0002c0003t0016 a0002c0003t0017 a0002c0003t0018	a0002c0003t0016g0117 a0002c0003t0017g0118 a0002c0003t0018g0119 a0002c0003t0016g0117 a0002c0003t0017g0118 a0002c0003t0018g0119	3	374	0.0080	-21	c.404 others(34): Show c.404-70_404-50delAGCTACACGGAGGAGGTAGGG		SECTM1	ENSG00000141574.8	transcript	ENST00000269389.8	protein_coding	3/4						chr17	TogoVar
SEL1L2_chr20_13844247_13995614	13846759	AGGTGGTG others(14): Show AGGTGGTGAGAACCGCTACCGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp2 NA19091.hp2 NA18946.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0262 a0001c0001t0001g0248 a0001c0001t0001g0262	2	324	0.0062	-21	c.27 others(32): Show c.2705_*2725delACGGTAGCGGTTCTCACCACC		SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding					2487		chr20	TogoVar
SEL1L3_chr4_25742433_25867988	25811461	GTCCATAG others(14): Show GTCCATAGAACTCTTAGCAGTC	G G	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0162 a0001c0008t0001g0162	1	312	0.0032	-21	c.156 others(40): Show c.1564+6656_1564+6676delGACTGCTAAGAGTTCTATGGA		SEL1L3	ENSG00000091490.11	transcript	ENST00000399878.8	protein_coding	9/23						chr4	TogoVar

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