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
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(19): Show ATATATATATATATATATATATTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0106 a0002c0001t0001g0106	1	53	0.0189	26	c.-28 others(37): Show c.-2803_-2802insTATATATATATATATATATATTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(19): Show ATATATATATATATATATATTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG03669.hp2 HG01346.hp2 HG03669.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0010 a0001c0002t0002g0015 a0001c0002t0002g0010 a0001c0002t0002g0015	2	54	0.0370	26	c.-28 others(37): Show c.-2803_-2802insTATATATATATATATATATTTTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(19): Show ATATATATATATATATTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG03130.hp2 NA19000.hp2 HG02647.hp1 HG03130.hp2 NA19000.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0034 a0001c0002t0002g0140 a0001c0002t0002g0142 a0001c0002t0002g0034 a0001c0002t0002g0140 a0001c0002t0002g0142	3	55	0.0545	26	c.-28 others(37): Show c.-2803_-2802insTATATATATATATATTTTTTTTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45748591	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0235 a0002c0001t0001g0235	1	35	0.0286	26	c.49 others(37): Show c.4922_*4923insATATATATATATATATATATATATAT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		3183		chr3	TogoVar
SACS_chr13_23323830_23438702	23399019	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02897.hp1 HG03041.hp2 others(2): Show HG02615.hp2 HG02897.hp1 HG03041.hp2 NA18967.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0006 a0001c0002 a0001c0003 a0001c0006	a0001c0002t0003 a0001c0003t0001 a0001c0006t0001 a0001c0002t0003 a0001c0003t0001 a0001c0006t0001	a0001c0002t0003g0026 a0001c0002t0003g0070 a0001c0003t0001g0036 others(2): Show a0001c0002t0003g0026 a0001c0002t0003g0070 a0001c0003t0001g0036 a0001c0006t0001g0202 a0001c0006t0001g0273	5	125	0.0400	26	c.20+ others(43): Show c.20+12200_20+12201insTTTTTTTTTTTTTTTTTTTTTTTTTT	SACS	ENSG00000151835.17	transcript	ENST00000382292.9	protein_coding	2/9			chr13	TogoVar
SACS_chr13_23323830_23438702	23408948	C C	CAAGACTC others(19): Show CAAGACTCCGTCTCAAAAAAAATAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00609.hp1 HG01081.hp2 others(31): Show HG00099.hp1 HG00609.hp1 HG01081.hp2 HG01099.hp1 HG01123.hp1 HG01346.hp1 HG01515.hp2 HG02074.hp1 HG02080.hp1 HG02129.hp1 HG02165.hp1 HG02735.hp1 HG02735.hp2 HG03239.hp2 HG03704.hp1 HG04199.hp1 NA18939.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18953.hp2 NA18959.hp1 NA18964.hp1 NA18970.hp2 NA18971.hp1 NA19064.hp2 NA19070.hp2 NA19082.hp2 NA19085.hp2 NA19091.hp1 NA20752.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0007 a0016 a0033 a0035	a0001c0006 a0002c0001 a0003c0005 others(6): Show a0001c0006 a0002c0001 a0003c0005 a0003c0012 a0004c0007 a0007c0015 a0016c0027 a0033c0060 a0035c0026	a0001c0006t0001 a0002c0001t0001 a0002c0001t0008 others(9): Show a0001c0006t0001 a0002c0001t0001 a0002c0001t0008 a0003c0005t0001 a0003c0005t0004 a0003c0005t0008 a0003c0012t0004 a0004c0007t0001 a0007c0015t0001 a0016c0027t0001 a0033c0060t0001 a0035c0026t0004	a0001c0006t0001g0235 a0002c0001t0001g0249 a0002c0001t0008g0010 others(31): Show a0001c0006t0001g0235 a0002c0001t0001g0249 a0002c0001t0008g0010 a0003c0005t0001g0033 a0003c0005t0001g0156 a0003c0005t0001g0198 a0003c0005t0001g0208 a0003c0005t0001g0210 a0003c0005t0001g0212 a0003c0005t0001g0227 a0003c0005t0001g0233 a0003c0005t0001g0237 a0003c0005t0001g0250 a0003c0005t0001g0300 a0003c0005t0001g0311 a0003c0005t0001g0354 a0003c0005t0001g0357 a0003c0005t0004g0151 a0003c0005t0004g0239 a0003c0005t0004g0347 a0003c0005t0008g0009 a0003c0012t0004g0179 a0004c0007t0001g0038 a0004c0007t0001g0106 a0004c0007t0001g0109 a0004c0007t0001g0110 a0004c0007t0001g0160 a0004c0007t0001g0189 a0004c0007t0001g0194 a0004c0007t0001g0199 a0007c0015t0001g0112 a0016c0027t0001g0214 a0033c0060t0001g0230 a0035c0026t0004g0152	34	376	0.0904	26	c.20+ others(41): Show c.20+2246_20+2271dupTTTTATTTTTTTTGAGACGGAGTCTT	SACS	ENSG00000151835.17	transcript	ENST00000382292.9	protein_coding	2/9			chr13	TogoVar
SAE1_chr19_47125835_47215636	47182496	T T	TGTGTGTG others(19): Show TGTGTGTGTGTGTGTGTGTGCGCGCGC	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	203	0.0049	26	c.733 others(45): Show c.733+12574_733+12575insTGTGTGTGTGTGTGTGTGCGCGCGCG	SAE1	ENSG00000142230.13	transcript	ENST00000270225.12	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
SAE1_chr19_47125835_47215636	47201360	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	33	0.0303	26	c.879 others(43): Show c.879-2307_879-2282dupTTTTTTTTTTTTTTTTTTTTTTTTTT	SAE1	ENSG00000142230.13	transcript	ENST00000270225.12	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
SAMD10_chr20_63969116_63984642	63970946	C C	CCTTTTCT others(19): Show CCTTTTCTCTTTCCTTCCTTCTCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	340	0.0029	26	c.45 others(37): Show c.4563_*4564insAGAAGAGAAGGAAGGAAAGAGAAAAG	SAMD10	ENSG00000130590.14	transcript	ENST00000369886.8	protein_coding		3169		chr20	TogoVar
SAMD10_chr20_63969116_63984642	63976764	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0038 a0001c0002t0006g0038	1	51	0.0196	26	c.445 others(41): Show c.445+181_445+206dupTTTTTTTTTTTTTTTTTTTTTTTTTT	SAMD10	ENSG00000130590.14	transcript	ENST00000369886.8	protein_coding	3/4			chr20	TogoVar
SAMD3_chr6_130139315_130227951	130153647	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00673.hp1 HG01109.hp1 others(8): Show HG00609.hp2 HG00673.hp1 HG01109.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03831.hp2 NA18985.hp1 NA18990.hp2 NA19063.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0063 a0001c0001t0001g0064 others(8): Show a0001c0001t0001g0051 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0075 a0001c0001t0001g0137 a0001c0001t0001g0156 a0001c0001t0001g0191 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0245 a0001c0001t0001g0312	11	192	0.0573	26	c.102 others(45): Show c.1023+1177_1023+1178insATATATATATATATATATATATATAT	SAMD3	ENSG00000164483.17	transcript	ENST00000439090.7	protein_coding	9/11			chr6	TogoVar
SAMD5_chr6_147503690_147575021	147551812	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0073 a0001c0002t0004g0073	1	31	0.0323	26	c.460 others(45): Show c.460-12557_460-12556insATATATATATATATATATATATATAT	SAMD5	ENSG00000203727.4	transcript	ENST00000367474.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr6	TogoVar
SAMHD1_chr20_36885229_36956708	36947385	G G	GGTGTGTG others(19): Show GGTGTGTGTGATTTGGAAGAGGTGTGT	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	338	0.0030	26	c.209 others(41): Show c.209-607_209-582dupACACACCTCTTCCAAATCACACACAC	SAMHD1	ENSG00000101347.11	transcript	ENST00000646673.2	protein_coding	1/15			chr20	TogoVar
SAP130_chr2_127936222_128033059	128003957	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	74	0.0135	26	c.870 others(43): Show c.870-3529_870-3504dupAAAAAAAAAAAAAAAAAAAAAAAAAA	SAP130	ENSG00000136715.19	transcript	ENST00000643581.2	protein_coding	7/20			chr2	TogoVar
SAP130_chr2_127936222_128033059	128018483	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03516.hp1 HG01891.hp1 HG03516.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0090 a0001c0004t0001g0091 a0001c0004t0001g0090 a0001c0004t0001g0091	2	79	0.0253	26	c.113 others(41): Show c.113-569_113-568insTTTTTTTTTTTTTTTTTTTTTTTTTT	SAP130	ENSG00000136715.19	transcript	ENST00000643581.2	protein_coding	2/20			chr2	TogoVar
SAP130_chr2_127936222_128033059	128030217	G G	GTCTTAAC others(19): Show GTCTTAACCCCCCCAACCACACACAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	348	0.0029	26	c.-22 others(37): Show c.-2285_-2284insGTTGTGTGTGGTTGGGGGGGTTAAGA	SAP130	ENSG00000136715.19	transcript	ENST00000643581.2	protein_coding		2159		chr2	TogoVar
SARAF_chr8_30058003_30088064	30064561	A A	ATATATAT others(19): Show ATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0212 a0001c0001t0014g0212	1	13	0.0769	26	c.995 others(41): Show c.995-649_995-648insAAAAAAAAAAAAAAAATATATATATA	SARAF	ENSG00000133872.14	transcript	ENST00000256255.11	protein_coding	5/5			chr8	TogoVar
SARDH_chr9_133658560_133743352	133667730	A A	AGGGCACC others(19): Show AGGGCACCTCCTGCATCCTCAGCCTGG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	260	0.0038	26	c.249 others(43): Show c.2496-886_2496-861dupCCAGGCTGAGGATGCAGGAGGTGCCC	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133668413	T T	TCTCCCTT others(19): Show TCTCCCTTACCCTCCCTCTCCCTCACC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02922.hp2 HG02976.hp2 others(7): Show HG01243.hp2 HG02922.hp2 HG02976.hp2 HG03195.hp2 HG03209.hp2 HG03492.hp1 HG03540.hp1 HG03669.hp2 HG04204.hp1 NA19067.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0009	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0003c0017 a0005c0019 a0009c0068	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(3): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0003c0017t0001 a0005c0019t0001 a0009c0068t0001	a0001c0001t0001g0020 a0002c0002t0001g0002 a0003c0003t0001g0055 others(7): Show a0001c0001t0001g0020 a0002c0002t0001g0002 a0003c0003t0001g0055 a0003c0003t0001g0194 a0003c0003t0001g0195 a0003c0003t0001g0240 a0003c0017t0001g0008 a0005c0019t0001g0082 a0005c0019t0001g0083 a0009c0068t0001g0059	10	250	0.0400	26	c.249 others(45): Show c.2496-1544_2496-1543insGGTGAGGGAGAGGGAGGGTAAGGGAG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133668620	C C	CCTCTCCC others(19): Show CCTCTCCCTCACCTTCCCTCTCCCTTA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0002 a0003c0017t0002	a0003c0017t0002g0006 a0003c0017t0002g0006	1	190	0.0053	26	c.249 others(45): Show c.2496-1751_2496-1750insTAAGGGAGAGGGAAGGTGAGGGAGAG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133668620	C C	CCTCTCCC others(19): Show CCTCTCCCTCTCCTTCCCTCTCCCTTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00639.hp2 others(17): Show HG00099.hp1 HG00280.hp1 HG00639.hp2 HG00738.hp1 HG01346.hp2 HG01891.hp1 HG01981.hp2 HG02040.hp1 HG02109.hp2 HG02257.hp1 HG02809.hp2 HG03239.hp2 HG03486.hp1 HG04228.hp1 NA18906.hp2 NA18971.hp1 NA18983.hp1 NA19003.hp2 NA19012.hp2 NA19065.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0006 a0001c0011 others(6): Show a0001c0001 a0001c0006 a0001c0011 a0002c0002 a0002c0005 a0002c0020 a0002c0034 a0003c0003 a0003c0013	a0001c0001t0002 a0001c0006t0002 a0001c0011t0002 others(6): Show a0001c0001t0002 a0001c0006t0002 a0001c0011t0002 a0002c0002t0002 a0002c0005t0002 a0002c0020t0002 a0002c0034t0002 a0003c0003t0002 a0003c0013t0002	a0001c0001t0002g0049 a0001c0001t0002g0072 a0001c0001t0002g0163 others(17): Show a0001c0001t0002g0049 a0001c0001t0002g0072 a0001c0001t0002g0163 a0001c0006t0002g0148 a0001c0006t0002g0152 a0001c0011t0002g0098 a0001c0011t0002g0099 a0001c0011t0002g0107 a0002c0002t0002g0048 a0002c0002t0002g0129 a0002c0002t0002g0208 a0002c0002t0002g0217 a0002c0002t0002g0219 a0002c0005t0002g0094 a0002c0005t0002g0095 a0002c0005t0002g0097 a0002c0020t0002g0018 a0002c0034t0002g0153 a0003c0003t0002g0050 a0003c0013t0002g0053	20	209	0.0957	26	c.249 others(45): Show c.2496-1751_2496-1750insTAAGGGAGAGGGAAGGAGAGGGAGAG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARS1_chr1_109208918_109243182	109219262	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01081.hp1 HG01175.hp1 others(9): Show HG00558.hp1 HG01081.hp1 HG01175.hp1 HG01192.hp2 HG01361.hp1 HG02109.hp1 HG02738.hp2 HG02976.hp1 HG03209.hp2 HG03654.hp1 NA18986.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0138 others(9): Show a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0138 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0248 a0001c0001t0001g0255 a0001c0001t0001g0357	12	29	0.4138	26	c.137 others(43): Show c.137-4714_137-4689dupTATATATATATATATATATATATATA	SARS1	ENSG00000031698.13	transcript	ENST00000234677.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SART1_chr11_65956734_65985137	65970998	T T	TGAGGAGG others(19): Show TGAGGAGGGGGGTGGTGGGATTCATGA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0266 a0001c0005t0002g0266	1	381	0.0026	26	c.157 others(45): Show c.1572+3178_1572+3179insAGGAGGGGGGTGGTGGGATTCATGAG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SART1_chr11_65956734_65985137	65971028	G G	GCTGAGGA others(19): Show GCTGAGGAGGGGGATGGTGGGATTCAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0068 a0001c0004t0007g0068	1	382	0.0026	26	c.157 others(45): Show c.1572+3207_1572+3208insCTGAGGAGGGGGATGGTGGGATTCAT	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19			chr11	TogoVar
SART1_chr11_65956734_65985137	65971300	T T	TGAGGAGG others(19): Show TGAGGAGGGGGATGGTGGGATTCATGA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0266 a0001c0005t0002g0266	1	382	0.0026	26	c.157 others(45): Show c.1572+3480_1572+3481insAGGAGGGGGATGGTGGGATTCATGAG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SART1_chr11_65956734_65985137	65971425	T T	TGAGGAGG others(19): Show TGAGGAGGGGGATGGTGGGATTCATGA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0266 a0001c0005t0002g0266	1	375	0.0027	26	c.157 others(45): Show c.1572+3605_1572+3606insAGGAGGGGGATGGTGGGATTCATGAG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SART1_chr11_65956734_65985137	65971576	T T	TGAGGAGG others(19): Show TGAGGAGGGGGATGGTGGGATTCATGA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG00609.hp1 others(53): Show HG00423.hp1 HG00544.hp2 HG00609.hp1 HG00639.hp1 HG00738.hp1 HG00738.hp2 HG01169.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01361.hp2 HG01975.hp1 HG02083.hp1 HG02155.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02895.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG04184.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18947.hp1 NA18949.hp2 NA18954.hp2 NA18967.hp1 NA18971.hp1 NA18974.hp1 NA18975.hp2 NA18980.hp1 NA18983.hp2 NA18993.hp2 NA18999.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19010.hp2 NA19064.hp2 NA19065.hp1 NA19074.hp1 NA19077.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19086.hp2 NA19090.hp2 NA20752.hp2 NA20905.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0006 a0002c0001 a0002c0011 others(2): Show a0001c0006 a0002c0001 a0002c0011 a0002c0012 a0010c0013	a0001c0006t0001 a0002c0001t0001 a0002c0011t0001 others(2): Show a0001c0006t0001 a0002c0001t0001 a0002c0011t0001 a0002c0012t0001 a0010c0013t0001	a0001c0006t0001g0110 a0002c0001t0001g0002 a0002c0001t0001g0003 others(29): Show a0001c0006t0001g0110 a0002c0001t0001g0002 a0002c0001t0001g0003 a0002c0001t0001g0024 a0002c0001t0001g0026 a0002c0001t0001g0028 a0002c0001t0001g0029 a0002c0001t0001g0030 a0002c0001t0001g0079 a0002c0001t0001g0081 a0002c0001t0001g0083 a0002c0001t0001g0084 a0002c0001t0001g0086 a0002c0001t0001g0093 a0002c0001t0001g0123 a0002c0001t0001g0124 a0002c0001t0001g0126 a0002c0001t0001g0127 a0002c0001t0001g0128 a0002c0001t0001g0129 a0002c0001t0001g0130 a0002c0001t0001g0131 a0002c0001t0001g0138 a0002c0001t0001g0140 a0002c0001t0001g0144 a0002c0001t0001g0145 a0002c0001t0001g0150 a0002c0001t0001g0151 a0002c0001t0001g0158 a0002c0011t0001g0002 a0002c0012t0001g0003 a0010c0013t0001g0125	56	359	0.1560	26	c.157 others(45): Show c.1572+3756_1572+3757insAGGAGGGGGATGGTGGGATTCATGAG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SASH1_chr6_148337838_148557044	148368768	G G	GTGCGCAC others(19): Show GTGCGCACGCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02602.hp1 HG02683.hp2 HG02273.hp1 HG02602.hp1 HG02683.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0034 a0002c0002t0001 a0001c0001t0002 a0001c0001t0034 a0002c0002t0001	a0001c0001t0002g0133 a0001c0001t0034g0228 a0002c0002t0001g0226 a0001c0001t0002g0133 a0001c0001t0034g0228 a0002c0002t0001g0226	3	243	0.0123	26	c.157 others(45): Show c.157-21366_157-21365insTGCGCACGCACACACACACACACACA	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19			chr6	TogoVar
SASH1_chr6_148337838_148557044	148368770	G G	GCACACAC others(19): Show GCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02572.hp2 HG01069.hp1 HG02572.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0004 a0001c0003 a0002c0004	a0001c0003t0001 a0002c0004t0008 a0001c0003t0001 a0002c0004t0008	a0001c0003t0001g0089 a0002c0004t0008g0099 a0001c0003t0001g0089 a0002c0004t0008g0099	2	30	0.0667	26	c.157 others(45): Show c.157-21339_157-21338insACACACACACACACACACACACACAC	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148387566	C C	CTTTCTTT others(19): Show CTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0180 a0002c0002t0003g0180	1	119	0.0084	26	c.157 others(43): Show c.157-2567_157-2566insTTCTTTCTTTCTTTCTTTCTTTCTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH3_chrX_129774949_129800201	129789109	A A	AAGAAAGA others(19): Show AAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	92	0.0109	26	c.300 others(41): Show c.300+533_300+534insGAAAGAAAGAAAGAAAGAAAGAAAGA	SASH3	ENSG00000122122.10	transcript	ENST00000356892.4	protein_coding	3/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
SATB1_chr3_18340377_18430339	18344358	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0061 a0001c0001t0039g0061	1	63	0.0159	26	c.47 others(37): Show c.4786_*4811dupAAAAAAAAAAAAAAAAAAAAAAAAAA	SATB1	ENSG00000182568.18	transcript	ENST00000338745.11	protein_coding		1018		chr3	TogoVar
SBDS_chr7_66982680_67000586	66989871	T T	TTTAACTT others(19): Show TTTAACTTAATTTTCATCTCTTTAAAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp2 HG01109.hp2 others(2): Show HG00280.hp1 HG00642.hp2 HG01109.hp2 HG01261.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0189 a0001c0001t0001g0191 others(2): Show a0001c0001t0001g0158 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0215	5	436	0.0115	26	c.624 others(43): Show c.624+1265_624+1266insGTTTAAAGAGATGAAAATTAAGTTAA	SBDS	ENSG00000126524.12	transcript	ENST00000246868.7	protein_coding	4/4			chr7	TogoVar
SBF2_chr11_9773668_10299219	9989055	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0165 a0001c0003t0002g0165	1	208	0.0048	26	c.139 others(43): Show c.1395+441_1395+442insGTATATATATATATATATATATATAT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	13/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	9994577	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01361.hp1 HG02055.hp1 others(7): Show HG00544.hp2 HG01361.hp1 HG02055.hp1 HG02970.hp1 HG03516.hp1 NA18939.hp1 NA18969.hp2 NA19005.hp1 NA19064.hp2 NA19066.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0002c0002 others(1): Show a0001c0001 a0001c0005 a0002c0002 a0003c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0005t0001 a0002c0002t0004 a0003c0004t0003	a0001c0001t0002g0032 a0001c0001t0002g0037 a0001c0001t0003g0030 others(7): Show a0001c0001t0002g0032 a0001c0001t0002g0037 a0001c0001t0003g0030 a0001c0001t0012g0001 a0001c0005t0001g0209 a0001c0005t0001g0210 a0002c0002t0004g0013 a0002c0002t0004g0019 a0003c0004t0003g0021 a0003c0004t0003g0031	10	148	0.0676	26	c.976 others(41): Show c.976-580_976-579insATATATATATATATATATATATATAT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	9/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10166961	C C	CCACACAC others(19): Show CCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0039 a0001c0001t0003g0039	1	132	0.0076	26	c.141 others(45): Show c.141+26915_141+26940dupTGTGTGTGTGTGTGTGTGTGTGTGTG	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	2/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10196866	A A	ATATATAT others(19): Show ATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0163 a0001c0003t0005g0163	1	12	0.0833	26	c.56- others(41): Show c.56-2880_56-2879insAAAAAATATATATATATATATATATA	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10196866	A A	ATATATAT others(19): Show ATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0212 a0001c0001t0007g0212	1	12	0.0833	26	c.56- others(41): Show c.56-2880_56-2879insAAAAAAAAAAAAAATATATATATATA	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10196866	A A	ATATATAT others(19): Show ATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0162 a0001c0001t0002g0162	1	12	0.0833	26	c.56- others(41): Show c.56-2880_56-2879insAAAAAAAAAAAAAAAATATATATATA	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10293917	T T	TCCCCGAC others(19): Show TCCCCGACGCCCGGCCCCGACGCCCGG	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0220 a0001c0001t0002g0220	1	209	0.0048	26	c.55+ others(37): Show c.55+97_55+98insCCGGGCGTCGGGGCCGGGCGTCGGGG	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SBK1_chr16_28287525_28328849	28321182	A A	AACACACA others(19): Show AACACACACACACACACACACACACAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0068 a0001c0001t0013g0068	1	18	0.0556	26	c.29 others(35): Show c.292_*317dupACACACACACACACACACACACACAC	SBK1	ENSG00000188322.8	transcript	ENST00000341901.5	protein_coding	4/4	318	INFO_REALIGN_3_PRIME	chr16	TogoVar
SBNO1_chr12_123284109_123369847	123307020	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0091 a0001c0002t0091	a0001c0002t0091g0220 a0001c0002t0091g0220	1	72	0.0139	26	c.363 others(45): Show c.3630+2289_3630+2290insTTTTTTTTTTTTTTTTTTTTTTTTTT	SBNO1	ENSG00000139697.14	transcript	ENST00000602398.3	protein_coding	28/31			chr12	TogoVar
SBNO2_chr19_1102638_1179268	1157409	G G	GCCCCGAA others(19): Show GCCCCGAAGACGCTCTCCCCACGCAGC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0001 a0003c0014t0001	a0003c0014t0001g0134 a0003c0014t0001g0134	1	201	0.0050	26	c.-12 others(45): Show c.-126-3008_-126-3007insGCTGCGTGGGGAGAGCGTCTTCGGGG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SBSN_chr19_35518367_35533311	35520373	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0002 a0002c0001t0001g0002	1	382	0.0026	26	c.31 others(37): Show c.3136_*3137insGTATATATATATATATATATATATAT	SBSN	ENSG00000189001.11	transcript	ENST00000452271.7	protein_coding		2993		chr19	TogoVar
SBSPON_chr8_73059543_73098172	73067589	C C	CTATATAT others(19): Show CTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0213 a0002c0002t0015g0213	1	359	0.0028	26	c.678 others(41): Show c.678-132_678-131insTATATATATATATATATATATATATA	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SCAF1_chr19_49637209_49663642	49659984	T T	TACACACA others(19): Show TACACACACACACATATACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG02055.hp2 others(1): Show HG01167.hp2 HG01169.hp1 HG02055.hp2 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0009 a0001c0002t0002g0034 a0001c0002t0002g0052 a0001c0002t0002g0009 a0001c0002t0002g0034 a0001c0002t0002g0052	4	153	0.0261	26	c.15 others(37): Show c.1585_*1586insACACACACACACATATACACACACAC	SCAF1	ENSG00000126461.15	transcript	ENST00000360565.8	protein_coding		1343		chr19	TogoVar
SCAF1_chr19_49637209_49663642	49659984	T T	TACACACA others(19): Show TACACACACACACATATATACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0002 a0008c0013t0002	a0008c0013t0002g0082 a0008c0013t0002g0082	1	150	0.0067	26	c.15 others(37): Show c.1585_*1586insACACACACACACATATATACACACAC	SCAF1	ENSG00000126461.15	transcript	ENST00000360565.8	protein_coding		1343		chr19	TogoVar
SCAF8_chr6_154728416_154839221	154796389	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTCTGTCTG	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19065.hp2 NA19062.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0095 a0001c0001t0001g0067 a0001c0001t0001g0095	2	64	0.0313	26	c.606 others(43): Show c.606+1253_606+1254insCTCTCTCTCTCTCTCTCTGTCTGTCT	SCAF8	ENSG00000213079.10	transcript	ENST00000367178.8	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCAI_chr9_124937608_125148528	125042634	T T	TGTGTGTG others(19): Show TGTGTGTGTGTACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0136 a0001c0001t0037g0136	1	69	0.0145	26	c.231 others(45): Show c.231-12896_231-12895insGTGTGTGTGTGTGTGTACACACACAC	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	3/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125042634	T T	TGTGTGTG others(19): Show TGTGTGTGTGTGTGTGTACACACACAC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0051 a0001c0003t0002g0051	1	69	0.0145	26	c.231 others(45): Show c.231-12896_231-12895insGTGTGTGTGTACACACACACACACAC	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	3/17			chr9	TogoVar

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