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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SCLY_chr2_238056001_238104413	238065660	T T	TTTATTAT others(14): Show TTTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG03041.hp1 HG04115.hp1 HG01346.hp2 HG03041.hp1 HG04115.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0017 a0001c0001 a0002c0002 a0007c0017	a0001c0001t0117 a0002c0002t0006 a0007c0017t0087 a0001c0001t0117 a0002c0002t0006 a0007c0017t0087	a0001c0001t0117g0069 a0002c0002t0006g0188 a0007c0017t0087g0250 a0001c0001t0117g0069 a0002c0002t0006g0188 a0007c0017t0087g0250	3	40	0.0750	21	c.202 others(38): Show c.202+1203_202+1223dupATTATTATTATTATTATTATT	SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCMH1_chr1_41022202_41247306	41244447	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01070.hp2 HG01099.hp1 others(21): Show HG00741.hp1 HG01070.hp2 HG01099.hp1 HG01358.hp2 HG01433.hp1 HG01515.hp1 HG01517.hp2 HG01928.hp2 HG02071.hp2 HG02129.hp2 HG03491.hp2 NA18940.hp1 NA18947.hp1 NA18959.hp2 NA18960.hp1 NA18969.hp1 NA18975.hp2 NA18986.hp1 NA18989.hp2 NA19054.hp2 NA19066.hp1 NA19068.hp1 NA19079.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0006t0011	a0001c0001t0001g0035 a0001c0001t0004g0244 a0001c0001t0004g0248 others(21): Show a0001c0001t0001g0035 a0001c0001t0004g0244 a0001c0001t0004g0248 a0001c0001t0004g0249 a0001c0001t0004g0251 a0001c0001t0004g0253 a0001c0001t0004g0261 a0001c0001t0004g0263 a0001c0001t0004g0281 a0001c0001t0004g0284 a0001c0001t0004g0285 a0001c0001t0004g0287 a0001c0001t0005g0262 a0001c0001t0005g0269 a0001c0001t0005g0277 a0001c0001t0005g0278 a0001c0001t0005g0280 a0001c0001t0005g0288 a0001c0001t0005g0293 a0001c0001t0005g0294 a0001c0001t0005g0296 a0001c0001t0005g0297 a0001c0001t0005g0298 a0001c0006t0011g0286	24	183	0.1311	21	c.-25 others(32): Show c.-2507_-2506insAAAAAAAAAAAAAAAAAAAAA	SCMH1	ENSG00000010803.17	transcript	ENST00000695335.1	protein_coding		2142		chr1	TogoVar
SCML4_chr6_107697154_107829313	107778222	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0130 a0001c0002t0010g0130	1	174	0.0057	21	c.-59 others(38): Show c.-59-5837_-59-5836insATATATATTTTTTTTTTTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107778222	A A	AAAAAAAA others(14): Show AAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG04115.hp2 HG02970.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0109 a0001c0001t0003g0037 a0001c0001t0001g0109 a0001c0001t0003g0037	2	175	0.0114	21	c.-59 others(38): Show c.-59-5837_-59-5836insATATATATATATATTTTTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107778222	A A	AAAAAAAT others(14): Show AAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0155 a0001c0002t0001g0155	1	174	0.0057	21	c.-59 others(38): Show c.-59-5837_-59-5836insATATATATATATATATTTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCN10A_chr3_38691807_38821217	38736963	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01517.hp2 NA19055.hp2 HG01517.hp2 NA19055.hp2	a0001 a0006 a0001 a0006	a0001c0008 a0006c0056 a0001c0008 a0006c0056	a0001c0008t0001 a0006c0056t0001 a0001c0008t0001 a0006c0056t0001	a0001c0008t0001g0001 a0006c0056t0001g0010 a0001c0008t0001g0001 a0006c0056t0001g0010	2	128	0.0156	21	c.228 others(40): Show c.2280+2531_2280+2551dupAAAAAAAAAAAAAAAAAAAAA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	15/27			chr3	TogoVar
SCN10A_chr3_38691807_38821217	38737798	C C	CTTCTTTC others(14): Show CTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0237 a0002c0001t0001g0237	1	127	0.0079	21	c.228 others(40): Show c.2280+1716_2280+1717insAAGAAAGAAAGAAAGAAAGAA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	15/27			chr3	TogoVar
SCN10A_chr3_38691807_38821217	38737835	T T	TCTTTCTT others(14): Show TCTTTCTTTCTTTCTTTCTCTC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0013 a0001c0007t0001g0013	1	365	0.0027	21	c.228 others(40): Show c.2280+1679_2280+1680insGAGAGAAAGAAAGAAAGAAAG	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	15/27			chr3	TogoVar
SCN10A_chr3_38691807_38821217	38737835	T T	TCTTTCTT others(14): Show TCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0016 a0016	a0016c0061 a0016c0061	a0016c0061t0001 a0016c0061t0001	a0016c0061t0001g0216 a0016c0061t0001g0216	1	365	0.0027	21	c.228 others(40): Show c.2280+1679_2280+1680insGAAAGAAAGAAAGAAAGAAAG	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	15/27			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38950059	C C	CCCCCCCC others(14): Show CCCCCCCCACCCCCCCCCCCCA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG06807.hp1 HG03453.hp2 HG06807.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0306 a0001c0006t0003g0307 a0001c0006t0003g0306 a0001c0006t0003g0307	2	249	0.0080	21	c.267 others(34): Show c.267+36_267+37insTGGGGGGGGGGGGTGGGGGGG	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	5/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38950066	C C	CACCCCCC others(14): Show CACCCCCCCCCACCCCCCCCCA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0291 a0001c0006t0003g0291	1	292	0.0034	21	c.267 others(34): Show c.267+29_267+30insTGGGGGGGGGTGGGGGGGGGT	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	5/29			chr3	TogoVar
SCN9A_chr2_166190185_166380944	166199975	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0169 a0001c0002t0001g0169	1	20	0.0500	21	c.477 others(38): Show c.4775-132_4775-112dupAAAAAAAAAAAAAAAAAAAAA	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	26/26			chr2	TogoVar
SCN9A_chr2_166190185_166380944	166370235	A A	AATCATCA others(14): Show AATCATCATCATCATCATCATC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01081.hp2 HG01168.hp1 others(13): Show HG00642.hp2 HG01081.hp2 HG01168.hp1 HG01192.hp1 HG01192.hp2 HG01928.hp1 HG01934.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02027.hp1 NA18948.hp2 NA18964.hp1 NA18973.hp1 NA19063.hp2 NA19064.hp1	a0001 a0003 a0005 others(2): Show a0001 a0003 a0005 a0008 a0026	a0001c0003 a0001c0005 a0003c0013 others(5): Show a0001c0003 a0001c0005 a0003c0013 a0003c0033 a0005c0016 a0005c0068 a0008c0021 a0026c0042	a0001c0003t0001 a0001c0003t0002 a0001c0003t0027 others(7): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0027 a0001c0005t0001 a0003c0013t0003 a0003c0033t0003 a0005c0016t0003 a0005c0068t0003 a0008c0021t0001 a0026c0042t0001	a0001c0003t0001g0213 a0001c0003t0001g0217 a0001c0003t0001g0218 others(12): Show a0001c0003t0001g0213 a0001c0003t0001g0217 a0001c0003t0001g0218 a0001c0003t0002g0242 a0001c0003t0027g0241 a0001c0005t0001g0223 a0003c0013t0003g0216 a0003c0033t0003g0220 a0005c0016t0003g0214 a0005c0016t0003g0221 a0005c0016t0003g0222 a0005c0016t0003g0225 a0005c0068t0003g0224 a0008c0021t0001g0001 a0026c0042t0001g0226	16	17	0.9412	21	c.-51 others(38): Show c.-51+5461_-51+5462insGATGATGATGATGATGATGAT	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	1/26			chr2	TogoVar
SCNN1D_chr1_1275436_1297025	1293748	G G	GCCCCGCC others(14): Show GCCCCGCCCCTGCCCTGGAGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	288	0.0035	21	c.21 others(32): Show c.2138_*2139insCCCCGCCCCTGCCCTGGAGGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding		1724		chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1293793	G G	GCCCCTGC others(14): Show GCCCCTGCCCTGGAGGCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0064 a0002c0003t0001g0064	1	288	0.0035	21	c.21 others(32): Show c.2183_*2184insCCCCTGCCCTGGAGGCCCCGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding		1769		chr1	TogoVar
SCNN1G_chr16_23177745_23221883	23180597	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0239 a0001c0001t0009g0239	1	55	0.0182	21	c.-22 others(32): Show c.-2261_-2260insAAAAAAAAAAAAAAAAAAAAA	SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding		2147		chr16	TogoVar
SCRG1_chr4_173379701_173404116	173399491	T T	TGTGTGTG others(14): Show TGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	374	0.0027	21	c.-43 others(30): Show c.-439_-438insCACACACACACACACACACAC	SCRG1	ENSG00000164106.8	transcript	ENST00000296506.8	protein_coding		376		chr4	TogoVar
SCTR_chr2_119434843_119529483	119450040	G G	GAAGAAAG others(14): Show GAAGAAAGAAAAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02809.hp1 HG02258.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0071 a0001c0002t0004g0092 a0001c0002t0004g0071 a0001c0002t0004g0092	2	288	0.0069	21	c.922 others(38): Show c.922-1281_922-1261dupTTTCTTTCTTTTTTCTTTCTT	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	9/12			chr2	TogoVar
SCUBE1_chr22_43192280_43348372	43206145	T T	TCACCACA others(14): Show TCACCACACACCCCCCCAAACA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0037 a0002c0037	a0002c0037t0064 a0002c0037t0064	a0002c0037t0064g0254 a0002c0037t0064g0254	1	278	0.0036	21	c.281 others(40): Show c.2814+1368_2814+1388dupTGTTTGGGGGGGTGTGTGGTG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	21/21			chr22	TogoVar
SCUBE2_chr11_9014476_9096599	9054725	A A	ATATATAT others(14): Show ATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0077 a0001c0005t0009g0077	1	121	0.0083	21	c.120 others(38): Show c.1208-967_1208-966insAAATATATATATATATATATA	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	10/22			chr11	TogoVar
SCUBE2_chr11_9014476_9096599	9054725	A A	ATATATAT others(14): Show ATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0007 a0004c0004t0007	a0004c0004t0007g0280 a0004c0004t0007g0280	1	121	0.0083	21	c.120 others(38): Show c.1208-967_1208-966insAAAAATATATATATATATATA	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	10/22			chr11	TogoVar
SCUBE2_chr11_9014476_9096599	9054725	A A	ATATATAT others(14): Show ATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0008 a0005c0007t0008	a0005c0007t0008g0221 a0005c0007t0008g0221	1	121	0.0083	21	c.120 others(38): Show c.1208-967_1208-966insAAAAAAATATATATATATATA	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	10/22			chr11	TogoVar
SCUBE3_chr6_35208956_35258079	35226480	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0210 a0001c0001t0002g0210	1	36	0.0278	21	c.86- others(36): Show c.86-1098_86-1078dupTTTTTTTTTTTTTTTTTTTTT	SCUBE3	ENSG00000146197.9	transcript	ENST00000274938.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCYGR1_chr2_227382683_227392949	227389893	C C	CTTTTCTT others(14): Show CTTTTCTTTTCTTTTCTTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00597.hp2 HG00609.hp2 others(35): Show HG00438.hp1 HG00597.hp2 HG00609.hp2 HG00642.hp2 HG01258.hp2 HG01981.hp2 HG02129.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp2 HG02273.hp2 HG02486.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02818.hp1 HG02895.hp1 HG02970.hp1 HG02976.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03471.hp2 HG03486.hp1 HG03831.hp2 HG03942.hp1 HG06807.hp2 NA18906.hp1 NA18948.hp1 NA18953.hp2 NA18962.hp2 NA18974.hp2 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0004 a0003c0007 others(1): Show a0001c0002 a0003c0004 a0003c0007 a0003c0009	a0001c0002t0001 a0003c0004t0001 a0003c0007t0001 others(1): Show a0001c0002t0001 a0003c0004t0001 a0003c0007t0001 a0003c0009t0001	a0001c0002t0001g0000 a0003c0004t0001g0000 a0003c0007t0001g0000 others(1): Show a0001c0002t0001g0000 a0003c0004t0001g0000 a0003c0007t0001g0000 a0003c0009t0001g0000	38	450	0.0844	21	c.-19 others(32): Show c.-1945_-1944insAGAAAAGAAAAGAAAAGAAAA	SCYGR1	ENSG00000284629.1	transcript	ENST00000641359.1	protein_coding		1945		chr2	TogoVar
SCYGR3_chr2_227609538_227619840	227610047	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02698.hp2 HG02056.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	9	0.2222	21	c.44 others(32): Show c.4490_*4491insTTTTTTTTTTTTTTTTTTTTT	SCYGR3	ENSG00000284704.1	transcript	ENST00000642029.1	protein_coding		4490		chr2	TogoVar
SCYL3_chr1_169844631_169898896	169850980	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0182 a0001c0001t0055g0182	1	300	0.0033	21	c.27 others(32): Show c.2712_*2732dupAAAAAAAAAAAAAAAAAAAAA	SCYL3	ENSG00000000457.14	transcript	ENST00000367771.11	protein_coding	13/13	2732		chr1	TogoVar
SCYL3_chr1_169844631_169898896	169851045	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0235 a0001c0001t0008g0235	1	126	0.0079	21	c.26 others(32): Show c.2647_*2667dupAAAAAAAAAAAAAAAAAAAAA	SCYL3	ENSG00000000457.14	transcript	ENST00000367771.11	protein_coding	13/13	2667		chr1	TogoVar
SDAD1_chr4_75944915_75995945	75978982	G G	GAAAAAAA others(14): Show GAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01261.hp2 HG02109.hp2 HG00609.hp1 HG01261.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0155 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0155 a0001c0001t0003g0234 a0001c0001t0003g0235	3	36	0.0833	21	c.295 others(38): Show c.295-1247_295-1227dupTTTTTTTTTTTTTTTTTTTTT	SDAD1	ENSG00000198301.12	transcript	ENST00000356260.10	protein_coding	3/21			chr4	TogoVar
SDC2_chr8_96488813_96616790	96540356	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0287 a0002c0002t0001g0287	1	332	0.0030	21	c.60+ others(38): Show c.60+46025_60+46026insTATATATATATATATATATAT	SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4			chr8	TogoVar
SDC2_chr8_96488813_96616790	96565084	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02109.hp2 HG02809.hp2 others(5): Show HG01123.hp2 HG02109.hp2 HG02809.hp2 HG02886.hp2 HG03098.hp1 NA18989.hp2 NA19060.hp2 NA19074.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0002c0002t0002	a0001c0001t0002g0072 a0001c0001t0002g0078 a0001c0001t0002g0089 others(5): Show a0001c0001t0002g0072 a0001c0001t0002g0078 a0001c0001t0002g0089 a0001c0001t0002g0107 a0001c0001t0003g0181 a0001c0001t0003g0209 a0001c0001t0007g0132 a0002c0002t0002g0077	8	81	0.0988	21	c.61- others(38): Show c.61-28381_61-28380insTTTTTTTTTTTTTTTTTTTTT	SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
SDF2_chr17_28643346_28666906	28661431	G G	GTTTCCTC others(14): Show GTTTCCTCTGTTTTCTCTGTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0182 a0001c0001t0002g0182	1	396	0.0025	21	c.151 others(36): Show c.151+294_151+295insAAACAGAGAAAACAGAGGAAA	SDF2	ENSG00000132581.10	transcript	ENST00000247020.9	protein_coding	1/2			chr17	TogoVar
SDF2_chr17_28643346_28666906	28663828	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp2 HG00741.hp1 others(25): Show HG00673.hp1 HG00673.hp2 HG00741.hp1 HG00741.hp2 HG01358.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02683.hp2 HG02698.hp1 HG03130.hp1 HG03669.hp1 HG03831.hp2 NA18948.hp1 NA18951.hp2 NA18967.hp1 NA18979.hp1 NA18979.hp2 NA18993.hp1 NA18997.hp1 NA19077.hp1 NA19077.hp2 NA19084.hp1 NA19240.hp2 NA20752.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(18): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0058 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0114 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0179 a0001c0001t0002g0004	28	30	0.9333	21	c.-19 others(32): Show c.-1953_-1952insAAAAAAAAAAAAAAAAAAAAA	SDF2	ENSG00000132581.10	transcript	ENST00000247020.9	protein_coding		1923		chr17	TogoVar
SDHAF2_chr11_61425124_61451733	61434591	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02809.hp1 HG02896.hp2 others(4): Show HG02615.hp1 HG02809.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03471.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0020 a0001c0001t0003g0034 a0001c0001t0003g0102 others(2): Show a0001c0001t0003g0020 a0001c0001t0003g0034 a0001c0001t0003g0102 a0001c0001t0003g0110 a0001c0001t0004g0037	7	178	0.0393	21	c.37- others(36): Show c.37-3015_37-3014insTTTTTTTTTTTTTTTTTTTTT	SDHAF2	ENSG00000167985.7	transcript	ENST00000301761.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr11	TogoVar
SDHAF3_chr7_97112698_97186763	97183901	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00558.hp2 HG00642.hp1 others(85): Show HG00544.hp1 HG00558.hp2 HG00642.hp1 HG00733.hp1 HG01069.hp1 HG01074.hp1 HG01074.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01261.hp1 HG01346.hp2 HG01496.hp1 HG01516.hp2 HG01517.hp2 HG01928.hp1 HG01978.hp2 HG02027.hp2 HG02040.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02273.hp1 HG02293.hp1 HG02451.hp1 HG02523.hp2 HG02698.hp1 HG02738.hp1 HG02818.hp1 HG02886.hp2 HG02897.hp2 HG02922.hp1 HG03017.hp2 HG03130.hp1 HG03225.hp2 HG03453.hp1 HG03490.hp2 HG03704.hp1 HG03710.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp2 NA18947.hp1 NA18950.hp1 NA18951.hp2 NA18957.hp1 NA18960.hp1 NA18962.hp1 NA18965.hp1 NA18970.hp1 NA18971.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18978.hp2 NA18981.hp2 NA18982.hp1 NA18986.hp2 NA18989.hp2 NA18999.hp2 NA19003.hp1 NA19005.hp2 NA19006.hp1 NA19010.hp1 NA19043.hp1 NA19055.hp1 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19075.hp2 NA19076.hp1 NA19081.hp1 NA19083.hp2 NA19085.hp1 NA19091.hp1 NA19091.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0027 others(79): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0027 a0001c0001t0001g0065 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0256 a0001c0001t0001g0263 a0001c0001t0001g0267 a0001c0001t0001g0274 a0001c0001t0001g0280 a0001c0001t0001g0286 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0349 a0001c0001t0001g0365 a0001c0001t0001g0372 a0001c0001t0001g0374 a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0039 a0001c0001t0002g0052 a0001c0001t0002g0058 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0077 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0092 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0117 a0001c0001t0002g0120 a0001c0001t0002g0158 a0001c0001t0002g0181 a0001c0001t0002g0190 a0001c0001t0002g0193 a0001c0001t0003g0005 a0001c0001t0003g0009 a0001c0001t0003g0040 a0001c0001t0003g0051 a0001c0001t0003g0115 a0001c0001t0003g0121 a0001c0001t0003g0123 a0001c0001t0003g0125 a0001c0001t0003g0131 a0001c0001t0003g0133 a0001c0001t0003g0139 a0001c0001t0003g0142 a0001c0001t0003g0150 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0189 a0001c0001t0004g0228	88	123	0.7154	21	c.26 others(32): Show c.2686_*2687insTTTTTTTTTTTTTTTTTTTTT	SDHAF3	ENSG00000196636.8	transcript	ENST00000432641.3	protein_coding		2139		chr7	TogoVar
SDHAF4_chr6_70561930_70594569	70565183	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0113 a0002c0003t0005g0113	1	181	0.0055	21	c.-17 others(32): Show c.-1758_-1757insTTTTTTTTTTTTTTTTTTTTT	SDHAF4	ENSG00000154079.6	transcript	ENST00000370474.4	protein_coding		1746		chr6	TogoVar
SDHAF4_chr6_70561930_70594569	70588842	A A	AAATATAT others(14): Show AAATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0005 a0002c0002t0019g0005	1	230	0.0043	21	c.11 others(30): Show c.119_*120insATATATATATATATATATATA	SDHAF4	ENSG00000154079.6	transcript	ENST00000370474.4	protein_coding	3/3	120	INFO_REALIGN_3_PRIME	chr6	TogoVar
SDHAF4_chr6_70561930_70594569	70588842	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00323.hp1 HG00323.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0047 a0002c0002t0015g0088 a0002c0002t0015g0047 a0002c0002t0015g0088	2	231	0.0087	21	c.11 others(30): Show c.118_*119insTATATATATATATATATATAT	SDHAF4	ENSG00000154079.6	transcript	ENST00000370474.4	protein_coding	3/3	119		chr6	TogoVar
SDHC_chr1_161309381_161368206	161339662	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01433.hp2 HG02083.hp1 others(3): Show HG00621.hp1 HG01433.hp2 HG02083.hp1 NA18612.hp2 NA19012.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0143 others(3): Show a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0143 a0001c0001t0001g0154 a0001c0001t0001g0176 a0001c0001t0001g0189	6	61	0.0984	21	c.180 others(36): Show c.180-924_180-904dupTTTTTTTTTTTTTTTTTTTTT	SDHC	ENSG00000143252.16	transcript	ENST00000367975.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	3299677	A A	AGCTGCTG others(14): Show AGCTGCTGCTGCTGCTGCTGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG02602.hp1 HG03471.hp2 others(1): Show HG01516.hp2 HG02602.hp1 HG03471.hp2 NA19030.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0033	a0001c0005 a0003c0001 a0004c0080 others(1): Show a0001c0005 a0003c0001 a0004c0080 a0033c0051	a0001c0005t0001 a0003c0001t0059 a0004c0080t0014 others(1): Show a0001c0005t0001 a0003c0001t0059 a0004c0080t0014 a0033c0051t0062	a0001c0005t0001g0025 a0003c0001t0059g0026 a0004c0080t0014g0078 others(1): Show a0001c0005t0001g0025 a0003c0001t0059g0026 a0004c0080t0014g0078 a0033c0051t0062g0019	4	20	0.2000	21	c.-19 others(32): Show c.-1910_-1909insGCTGCTGCTGCTGCTGCTGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding		1574		chr7	TogoVar
SDK1_chr7_3296252_4274000	3319878	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02809.hp1 HG02896.hp1 others(4): Show HG02622.hp2 HG02809.hp1 HG02896.hp1 HG03195.hp1 HG03491.hp2 HG03710.hp1 NA20129.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0007	a0001c0008 a0001c0014 a0001c0037 others(4): Show a0001c0008 a0001c0014 a0001c0037 a0001c0060 a0002c0030 a0005c0058 a0007c0006	a0001c0008t0007 a0001c0014t0018 a0001c0037t0002 others(4): Show a0001c0008t0007 a0001c0014t0018 a0001c0037t0002 a0001c0060t0041 a0002c0030t0034 a0005c0058t0012 a0007c0006t0001	a0001c0008t0007g0067 a0001c0014t0018g0060 a0001c0037t0002g0077 others(4): Show a0001c0008t0007g0067 a0001c0014t0018g0060 a0001c0037t0002g0077 a0001c0060t0041g0080 a0002c0030t0034g0083 a0005c0058t0012g0063 a0007c0006t0001g0036	7	38	0.1842	21	c.298 others(40): Show c.298+18011_298+18012insTTTTTTTTTTTTTTTTTTTTT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3582683	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0017 a0017	a0017c0035 a0017c0035	a0017c0035t0005 a0017c0035t0005	a0017c0035t0005g0058 a0017c0035t0005g0058	1	30	0.0333	21	c.299 others(40): Show c.299-36391_299-36371dupAAAAAAAAAAAAAAAAAAAAA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3687056	A A	ACACACAC others(14): Show ACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0027 a0027	a0027c0089 a0027c0089	a0027c0089t0047 a0027c0089t0047	a0027c0089t0047g0056 a0027c0089t0047g0056	1	17	0.0588	21	c.713 others(40): Show c.713+44951_713+44952insCACACACACACACACACACAC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3938645	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0027 a0027	a0027c0089 a0027c0089	a0027c0089t0047 a0027c0089t0047	a0027c0089t0047g0056 a0027c0089t0047g0056	1	74	0.0135	21	c.848 others(40): Show c.848-12263_848-12262insAAAAAAAAAAAAAAAAAAAAA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	5/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK2_chr17_73329384_73649445	73355174	A A	ATATATAT others(14): Show ATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0098 a0001c0002t0014g0098	1	52	0.0192	21	c.559 others(40): Show c.5594-2538_5594-2537insAAAAAAATATATATATATATA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73355174	A A	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0015 a0015	a0015c0106 a0015c0106	a0015c0106t0012 a0015c0106t0012	a0015c0106t0012g0100 a0015c0106t0012g0100	1	52	0.0192	21	c.559 others(40): Show c.5594-2538_5594-2537insAAAAAAAAATATATATATATA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73355174	A A	ATATATAT others(14): Show ATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0024 a0001c0005t0024	a0001c0005t0024g0189 a0001c0005t0024g0189	1	52	0.0192	21	c.559 others(40): Show c.5594-2538_5594-2537insAAAAAAAAAAATATATATATA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73355175	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00621.hp2 HG02976.hp2 HG00544.hp1 HG00621.hp2 HG02976.hp2	a0001 a0012 a0001 a0012	a0001c0043 a0001c0071 a0012c0062 a0001c0043 a0001c0071 a0012c0062	a0001c0043t0033 a0001c0071t0071 a0012c0062t0001 a0001c0043t0033 a0001c0071t0071 a0012c0062t0001	a0001c0043t0033g0003 a0001c0071t0071g0093 a0012c0062t0001g0140 a0001c0043t0033g0003 a0001c0071t0071g0093 a0012c0062t0001g0140	3	192	0.0156	21	c.559 others(40): Show c.5594-2539_5594-2538insTATATATATATATATATATAT	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73426208	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0098 a0001c0002t0014g0098	1	4	0.2500	21	c.158 others(40): Show c.1584-2137_1584-2117dupAAAAAAAAAAAAAAAAAAAAA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	12/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73509902	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00738.hp2 others(2): Show HG00280.hp2 HG00323.hp2 HG00738.hp2 HG01106.hp2 HG02965.hp2	a0001 a0004 a0014 others(1): Show a0001 a0004 a0014 a0016	a0001c0026 a0001c0111 a0004c0027 others(2): Show a0001c0026 a0001c0111 a0004c0027 a0014c0086 a0016c0057	a0001c0026t0022 a0001c0111t0001 a0004c0027t0024 others(2): Show a0001c0026t0022 a0001c0111t0001 a0004c0027t0024 a0014c0086t0012 a0016c0057t0003	a0001c0026t0022g0117 a0001c0111t0001g0203 a0004c0027t0024g0033 others(2): Show a0001c0026t0022g0117 a0001c0111t0001g0203 a0004c0027t0024g0033 a0014c0086t0012g0204 a0016c0057t0003g0172	5	54	0.0926	21	c.65- others(36): Show c.65-2306_65-2305insTTTTTTTTTTTTTTTTTTTTT	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	1/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73545127	A A	ACACACAC others(14): Show ACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02155.hp2 HG02071.hp1 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0025 a0001c0002t0004 a0001c0001t0025 a0001c0002t0004	a0001c0001t0025g0086 a0001c0002t0004g0039 a0001c0001t0025g0086 a0001c0002t0004g0039	2	200	0.0100	21	c.65- others(38): Show c.65-37531_65-37530insGTGTGTGTGTGTGTGTGTGTG	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	1/44			chr17	TogoVar

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