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(10): Show ATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0014 a0001c0002t0002g0014	1	53	0.0189	17	c.-28 others(28): Show c.-2803_-2802insTATATATATATATATAT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(10): Show ATATATATATATTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0121 a0001c0002t0002g0121	1	53	0.0189	17	c.-28 others(28): Show c.-2803_-2802insTATATATATATTTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACS_chr13_23323830_23438702	23399019	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01099.hp2 HG01257.hp2 others(14): Show HG00673.hp2 HG01099.hp2 HG01257.hp2 HG01258.hp2 HG01928.hp2 HG02004.hp1 HG02293.hp1 NA18941.hp1 NA18952.hp1 NA18960.hp1 NA18982.hp2 NA18989.hp1 NA19003.hp2 NA19070.hp1 NA19084.hp1 NA19089.hp1 NA19091.hp2	a0002 a0002	a0002c0001 a0002c0059 a0002c0001 a0002c0059	a0002c0001t0001 a0002c0059t0001 a0002c0001t0001 a0002c0059t0001	a0002c0001t0001g0004 a0002c0001t0001g0150 a0002c0001t0001g0159 others(13): Show a0002c0001t0001g0004 a0002c0001t0001g0150 a0002c0001t0001g0159 a0002c0001t0001g0188 a0002c0001t0001g0246 a0002c0001t0001g0247 a0002c0001t0001g0270 a0002c0001t0001g0272 a0002c0001t0001g0279 a0002c0001t0001g0282 a0002c0001t0001g0284 a0002c0001t0001g0285 a0002c0001t0001g0286 a0002c0001t0001g0297 a0002c0001t0001g0351 a0002c0059t0001g0352	17	137	0.1241	17	c.20+ others(34): Show c.20+12184_20+12200dupTTTTTTTTTTTTTTTTT	SACS	ENSG00000151835.17	transcript	ENST00000382292.9	protein_coding	2/9			chr13	TogoVar
SACS_chr13_23323830_23438702	23409040	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02738.hp1 HG02970.hp1 others(1): Show HG01433.hp1 HG02738.hp1 HG02970.hp1 HG06807.hp1	a0001 a0024 a0001 a0024	a0001c0002 a0001c0003 a0024c0029 a0001c0002 a0001c0003 a0024c0029	a0001c0002t0003 a0001c0003t0001 a0024c0029t0005 a0001c0002t0003 a0001c0003t0001 a0024c0029t0005	a0001c0002t0003g0086 a0001c0003t0001g0308 a0001c0003t0001g0320 others(1): Show a0001c0002t0003g0086 a0001c0003t0001g0308 a0001c0003t0001g0320 a0024c0029t0005g0266	4	11	0.3636	17	c.20+ others(32): Show c.20+2163_20+2179dupAAAAAAAAAAAAAAAAA	SACS	ENSG00000151835.17	transcript	ENST00000382292.9	protein_coding	2/9			chr13	TogoVar
SAGSIN1_chr7_6324411_6353967	6348881	C C	CGGGCCGC others(10): Show CGGGCCGCAGTGGAGCGG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00642.hp2 HG01928.hp1 HG01943.hp1 others(1): Show HG00642.hp2 HG01928.hp1 HG01943.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0039 a0001c0001t0015g0040 a0001c0001t0015g0041 others(1): Show a0001c0001t0015g0039 a0001c0001t0015g0040 a0001c0001t0015g0041 a0001c0001t0015g0042	4	418	0.0096	17	c.-14 others(26): Show c.-140_-124dupCCGCTCCACTGCGGCCC	SAGSIN1	ENSG00000286075.3	transcript	ENST00000578372.2	protein_coding	1/2	124		chr7	TogoVar
SALL1_chr16_51130982_51156270	51149905	G G	GCCATCCG others(10): Show GCCATCCGCCAACCACGC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0133 a0003c0007t0002g0133	1	372	0.0027	17	c.76+ others(32): Show c.76+1260_76+1261insGCGTGGTTGGCGGATGG	SALL1	ENSG00000103449.13	transcript	ENST00000251020.9	protein_coding	1/2			chr16	TogoVar
SAMD10_chr20_63969116_63984642	63971411	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03654.hp2 HG04228.hp1 others(1): Show HG03453.hp1 HG03654.hp2 HG04228.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0005 a0001c0002t0004 a0001c0002t0005	a0001c0002t0004g0010 a0001c0002t0004g0056 a0001c0002t0005g0018 a0001c0002t0004g0010 a0001c0002t0004g0056 a0001c0002t0005g0018	4	189	0.0212	17	c.40 others(28): Show c.4098_*4099insAAAAAAAAAAAAAAAAA	SAMD10	ENSG00000130590.14	transcript	ENST00000369886.8	protein_coding		2704		chr20	TogoVar
SAMD10_chr20_63969116_63984642	63976764	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0039 a0001c0002t0006g0039	1	51	0.0196	17	c.445 others(32): Show c.445+190_445+206dupTTTTTTTTTTTTTTTTT	SAMD10	ENSG00000130590.14	transcript	ENST00000369886.8	protein_coding	3/4			chr20	TogoVar
SAMD3_chr6_130139315_130227951	130153669	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01517.hp1 HG01517.hp2 HG01123.hp2 HG01517.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0123 a0001c0001t0001g0318 a0001c0001t0001g0052 a0001c0001t0001g0123 a0001c0001t0001g0318	3	331	0.0091	17	c.102 others(36): Show c.1023+1155_1023+1156insTATATATATATATATAT	SAMD3	ENSG00000164483.17	transcript	ENST00000439090.7	protein_coding	9/11			chr6	TogoVar
SAMD4A_chr14_54562128_54798312	54675367	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03471.hp2 HG03225.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0017 a0001c0001 a0001c0017	a0001c0001t0053 a0001c0017t0021 a0001c0001t0053 a0001c0017t0021	a0001c0001t0053g0112 a0001c0017t0021g0038 a0001c0001t0053g0112 a0001c0017t0021g0038	2	72	0.0278	17	c.197 others(36): Show c.197-26691_197-26675dupAAAAAAAAAAAAAAAAA	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMD4A_chr14_54562128_54798312	54796023	T T	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0004 a0001c0001t0048g0004	1	252	0.0040	17	c.70 others(28): Show c.7079_*7080insGTGTGTGTGTGTGTGTG	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding		2712		chr14	TogoVar
SAMD8_chr10_75106656_75187123	75148346	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA19082.hp2 NA19091.hp1 HG01243.hp2 NA19082.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0104 a0001c0001t0004g0117 a0001c0001t0004g0133 a0001c0001t0001g0104 a0001c0001t0004g0117 a0001c0001t0004g0133	3	66	0.0455	17	c.-15 others(34): Show c.-15-2159_-15-2143dupTTTTTTTTTTTTTTTTT	SAMD8	ENSG00000156671.15	transcript	ENST00000542569.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr10	TogoVar
SAMM50_chr22_43950442_44001529	43968264	A A	AAAAAAAA others(10): Show AAAAAAAAAGAAAAAAAG	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0035 a0001c0004t0001g0035	1	376	0.0027	17	c.235 others(32): Show c.235-455_235-454insAAAAGAAAAAAAAGAAA	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAP130_chr2_127936222_128033059	127960329	T T	TGGGCACC others(10): Show TGGGCACCGAGTCCAGAC	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	348	0.0029	17	c.206 others(36): Show c.2064-5002_2064-4986dupGTCTGGACTCGGTGCCC	SAP130	ENSG00000136715.19	transcript	ENST00000643581.2	protein_coding	15/20			chr2	TogoVar
SAP130_chr2_127936222_128033059	128003957	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02559.hp2 NA19067.hp2 HG01358.hp2 HG02559.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0078 a0001c0002t0001g0050 a0001c0002t0001g0071 a0001c0001t0001g0078 a0001c0002t0001g0050 a0001c0002t0001g0071	3	76	0.0395	17	c.870 others(34): Show c.870-3520_870-3504dupAAAAAAAAAAAAAAAAA	SAP130	ENSG00000136715.19	transcript	ENST00000643581.2	protein_coding	7/20			chr2	TogoVar
SAP130_chr2_127936222_128033059	128018483	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02818.hp2 HG02559.hp1 HG02818.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0095 a0001c0004t0001g0097 a0001c0004t0001g0095 a0001c0004t0001g0097	2	79	0.0253	17	c.113 others(32): Show c.113-585_113-569dupTTTTTTTTTTTTTTTTT	SAP130	ENSG00000136715.19	transcript	ENST00000643581.2	protein_coding	2/20			chr2	TogoVar
SAPCD2_chr9_137057127_137075557	137070668	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0099 a0001c0001t0014g0099	1	4	0.2500	17	c.-20 others(26): Show c.-209_-208insAAAAAAAAAAAAAAAAA	SAPCD2	ENSG00000186193.9	transcript	ENST00000409687.5	protein_coding		112		chr9	TogoVar
SAR1A_chr10_70142289_70175514	70149547	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0096 a0001c0001t0096	a0001c0001t0096g0228 a0001c0001t0096g0228	1	24	0.0417	17	c.29 others(28): Show c.2912_*2928dupAAAAAAAAAAAAAAAAA	SAR1A	ENSG00000079332.16	transcript	ENST00000373241.9	protein_coding	7/7	2928		chr10	TogoVar
SAR1B_chr5_134596149_134637828	134612641	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA18991.hp1 HG01884.hp2 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0232 a0001c0001t0001g0202 a0001c0001t0001g0232	2	12	0.1667	17	c.244 others(30): Show c.244+33_244+49dupTTTTTTTTTTTTTTTTT	SAR1B	ENSG00000152700.14	transcript	ENST00000402673.7	protein_coding	4/6			chr5	TogoVar
SARAF_chr8_30058003_30088064	30064561	A A	ATATATAT others(10): Show ATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0192 a0001c0001t0002g0192	1	13	0.0769	17	c.995 others(32): Show c.995-649_995-648insAAAAAAAAATATATATA	SARAF	ENSG00000133872.14	transcript	ENST00000256255.11	protein_coding	5/5			chr8	TogoVar
SARAF_chr8_30058003_30088064	30064561	A A	ATATATTT others(10): Show ATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01891.hp1 NA18961.hp1 others(2): Show HG00597.hp2 HG01891.hp1 NA18961.hp1 NA18977.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0001 a0001c0001t0002 a0001c0004t0001	a0001c0001t0002g0024 a0001c0001t0002g0188 a0001c0004t0001g0193 a0001c0001t0002g0024 a0001c0001t0002g0188 a0001c0004t0001g0193	5	17	0.2941	17	c.995 others(32): Show c.995-649_995-648insAAAAAAAAAAAAATATA	SARAF	ENSG00000133872.14	transcript	ENST00000256255.11	protein_coding	5/5			chr8	TogoVar
SARAF_chr8_30058003_30088064	30064561	A A	ATATTTTT others(10): Show ATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0185 a0001c0004t0011g0185	1	13	0.0769	17	c.995 others(32): Show c.995-649_995-648insAAAAAAAAAAAAAAATA	SARAF	ENSG00000133872.14	transcript	ENST00000256255.11	protein_coding	5/5			chr8	TogoVar
SARDH_chr9_133658560_133743352	133668728	C C	CCCCTTAC others(10): Show CCCCTTACCCTCCCTCTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp2 HG02818.hp1 HG01167.hp1 HG01167.hp2 HG02818.hp1	a0002 a0003 a0006 a0002 a0003 a0006	a0002c0043 a0003c0040 a0006c0062 a0002c0043 a0003c0040 a0006c0062	a0002c0043t0002 a0003c0040t0002 a0006c0062t0001 a0002c0043t0002 a0003c0040t0002 a0006c0062t0001	a0002c0043t0002g0141 a0003c0040t0002g0123 a0006c0062t0001g0040 a0002c0043t0002g0141 a0003c0040t0002g0123 a0006c0062t0001g0040	3	204	0.0147	17	c.249 others(36): Show c.2495+1855_2495+1856insAAGAGGGAGGGTAAGGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133668954	T T	TTCCCTCT others(10): Show TTCCCTCTCCCCTTACCC	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA19059.hp2 NA18974.hp2 NA19059.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0001 a0002c0012t0001	a0002c0012t0001g0001 a0002c0012t0001g0001	2	239	0.0084	17	c.249 others(36): Show c.2495+1629_2495+1630insGGGTAAGGGGAGAGGGA	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133668984	C C	CCCTCCCT others(10): Show CCCTCCCTCTCCCCTCAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0006 a0006	a0006c0062 a0006c0062	a0006c0062t0001 a0006c0062t0001	a0006c0062t0001g0040 a0006c0062t0001g0040	1	258	0.0039	17	c.249 others(36): Show c.2495+1599_2495+1600insATGAGGGGAGAGGGAGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133669112	C C	CACCCTCC others(10): Show CACCCTCCCTCTCCCCTT	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18971.hp1 HG02040.hp1 NA18971.hp1	a0002 a0002	a0002c0005 a0002c0020 a0002c0005 a0002c0020	a0002c0005t0002 a0002c0020t0002 a0002c0005t0002 a0002c0020t0002	a0002c0005t0002g0095 a0002c0020t0002g0018 a0002c0005t0002g0095 a0002c0020t0002g0018	2	231	0.0087	17	c.249 others(36): Show c.2495+1471_2495+1472insAAGGGGAGAGGGAGGGT	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133669132	T T	TTCCCTCT others(10): Show TTCCCTCTCCCCTTACCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0009 a0009	a0009c0068 a0009c0068	a0009c0068t0001 a0009c0068t0001	a0009c0068t0001g0059 a0009c0068t0001g0059	1	207	0.0048	17	c.249 others(36): Show c.2495+1451_2495+1452insGGGTAAGGGGAGAGGGA	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133669160	C C	CACCCTCC others(10): Show CACCCTCCCTCTCCCCTT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0110 a0002c0005t0002g0110	1	245	0.0041	17	c.249 others(36): Show c.2495+1423_2495+1424insAAGGGGAGAGGGAGGGT	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133669200	A A	ATCTCCCC others(10): Show ATCTCCCCTCACCCTCCC	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0217 a0002c0002t0002g0217	1	130	0.0077	17	c.249 others(36): Show c.2495+1383_2495+1384insGGGAGGGTGAGGGGAGA	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133669235	T T	TCCCTCAC others(10): Show TCCCTCACCCTCCCTCTC	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03540.hp2 NA18522.hp2 others(2): Show HG02683.hp1 HG03540.hp2 NA18522.hp2 NA18906.hp2 NA19065.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0002c0004 a0003c0003 others(2): Show a0002c0002 a0002c0004 a0003c0003 a0003c0009 a0003c0057	a0002c0002t0002 a0002c0004t0001 a0003c0003t0002 others(2): Show a0002c0002t0002 a0002c0004t0001 a0003c0003t0002 a0003c0009t0001 a0003c0057t0001	a0002c0002t0002g0219 a0002c0004t0001g0139 a0003c0003t0002g0050 others(2): Show a0002c0002t0002g0219 a0002c0004t0001g0139 a0003c0003t0002g0050 a0003c0009t0001g0255 a0003c0057t0001g0226	5	198	0.0253	17	c.249 others(36): Show c.2495+1332_2495+1348dupGAGAGGGAGGGTGAGGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARS1_chr1_109208918_109243182	109219262	C C	CATAATAT others(10): Show CATAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	18	0.0556	17	c.137 others(34): Show c.137-4713_137-4712insATATATATATATATATA	SARS1	ENSG00000031698.13	transcript	ENST00000234677.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SART1_chr11_65956734_65985137	65969662	G G	GCCTCCAC others(10): Show GCCTCCACCTCCCAAAGT	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0058 a0001c0004t0002g0058	1	381	0.0026	17	c.157 others(36): Show c.1572+1842_1572+1858dupCCTCCACCTCCCAAAGT	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SASH1_chr6_148337838_148557044	148387628	C C	CTTCCTTC others(10): Show CTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0155 a0002c0002t0008g0155	1	314	0.0032	17	c.157 others(34): Show c.157-2504_157-2503insCCTTCCTTCCTTCCTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148387632	C C	CTTCCTTC others(10): Show CTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0037 a0002c0037	a0002c0037t0006 a0002c0037t0006	a0002c0037t0006g0146 a0002c0037t0006g0146	1	315	0.0032	17	c.157 others(34): Show c.157-2500_157-2499insCCTTCCTTCCTTCCTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148387636	C C	CTTCCTTC others(10): Show CTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01934.hp2 HG02080.hp1 HG01167.hp2 HG01934.hp2 HG02080.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0008 a0001c0001 a0002c0002 a0003c0008	a0001c0001t0004 a0002c0002t0001 a0003c0008t0002 a0001c0001t0004 a0002c0002t0001 a0003c0008t0002	a0001c0001t0004g0018 a0002c0002t0001g0262 a0003c0008t0002g0067 a0001c0001t0004g0018 a0002c0002t0001g0262 a0003c0008t0002g0067	3	311	0.0096	17	c.157 others(34): Show c.157-2496_157-2495insCCTTCCTTCCTTCCTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148387640	C C	CTTCCTTC others(10): Show CTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02015.hp1 HG03491.hp2 others(2): Show HG00741.hp1 HG02015.hp1 HG03491.hp2 NA20805.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0005	a0001c0001t0001 a0001c0003t0001 a0002c0002t0003 others(1): Show a0001c0001t0001 a0001c0003t0001 a0002c0002t0003 a0002c0005t0002	a0001c0001t0001g0178 a0001c0001t0001g0309 a0001c0003t0001g0054 others(2): Show a0001c0001t0001g0178 a0001c0001t0001g0309 a0001c0003t0001g0054 a0002c0002t0003g0320 a0002c0005t0002g0122	5	304	0.0164	17	c.157 others(34): Show c.157-2492_157-2491insCCTTCCTTCCTTCCTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148387644	C C	CTTCCTTC others(10): Show CTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG02083.hp2 others(2): Show HG01069.hp2 HG01071.hp1 HG02083.hp2 HG02129.hp2 HG03654.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0006 a0001c0001 a0002c0002 a0003c0006	a0001c0001t0002 a0002c0002t0001 a0002c0002t0003 others(1): Show a0001c0001t0002 a0002c0002t0001 a0002c0002t0003 a0003c0006t0001	a0001c0001t0002g0143 a0002c0002t0001g0300 a0002c0002t0003g0110 others(2): Show a0001c0001t0002g0143 a0002c0002t0001g0300 a0002c0002t0003g0110 a0003c0006t0001g0056 a0003c0006t0001g0057	5	308	0.0162	17	c.157 others(34): Show c.157-2488_157-2487insCCTTCCTTCCTTCCTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148387648	C C	CTTCCTTC others(10): Show CTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0288 a0002c0002t0003g0288	1	316	0.0032	17	c.157 others(34): Show c.157-2484_157-2483insCCTTCCTTCCTTCCTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148421149	G G	GGAAGGAA others(10): Show GGAAGGAAGGAAGGAAGA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0049 a0002c0002t0004g0049	1	319	0.0031	17	c.286 others(36): Show c.286-19035_286-19034insGAAGGAAGGAAGGAAGA	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	2/19			chr6	TogoVar
SASH1_chr6_148337838_148557044	148428629	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00738.hp1 HG01070.hp1 others(11): Show HG00323.hp2 HG00738.hp1 HG01070.hp1 HG01071.hp2 HG01243.hp1 HG01358.hp1 HG01981.hp2 HG02027.hp1 HG02071.hp2 HG02080.hp1 HG03017.hp1 NA18947.hp1 NA19012.hp2 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0013 a0002c0002 others(2): Show a0001c0001 a0001c0013 a0002c0002 a0002c0005 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0025 a0001c0013t0001 a0002c0002t0003 a0002c0002t0004 a0002c0005t0006 a0003c0006t0002 a0003c0006t0009	a0001c0001t0001g0012 a0001c0001t0002g0200 a0001c0001t0004g0018 others(11): Show a0001c0001t0001g0012 a0001c0001t0002g0200 a0001c0001t0004g0018 a0001c0001t0009g0003 a0001c0001t0009g0004 a0001c0001t0025g0005 a0001c0013t0001g0161 a0002c0002t0003g0197 a0002c0002t0004g0193 a0002c0005t0006g0013 a0002c0005t0006g0158 a0002c0005t0006g0305 a0003c0006t0002g0078 a0003c0006t0009g0069	14	68	0.2059	17	c.286 others(36): Show c.286-11542_286-11541insAAAAAAAAAAAAAAAAA	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148449078	C C	CTTTTTCT others(10): Show CTTTTTCTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0031 a0002c0005t0001g0031	1	118	0.0085	17	c.386 others(34): Show c.386+8676_386+8677insCTTTTTTTTTTTTTTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148449079	T T	TTTTTCTT others(10): Show TTTTTCTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01891.hp1 HG02055.hp1 others(11): Show HG01069.hp1 HG01891.hp1 HG02055.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03579.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0023 others(3): Show a0001c0001 a0001c0003 a0001c0023 a0002c0004 a0002c0035 a0004c0012	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0005 a0001c0003t0012 a0001c0003t0018 a0001c0023t0007 a0002c0004t0004 a0002c0004t0005 a0002c0004t0008 a0002c0004t0011 a0002c0035t0011 a0004c0012t0002	a0001c0001t0001g0116 a0001c0001t0002g0086 a0001c0003t0001g0089 others(11): Show a0001c0001t0001g0116 a0001c0001t0002g0086 a0001c0003t0001g0089 a0001c0003t0005g0128 a0001c0003t0005g0266 a0001c0003t0012g0276 a0001c0003t0018g0127 a0001c0023t0007g0274 a0002c0004t0004g0232 a0002c0004t0005g0271 a0002c0004t0008g0099 a0002c0004t0011g0101 a0002c0035t0011g0125 a0004c0012t0002g0087	14	314	0.0446	17	c.386 others(34): Show c.386+8676_386+8677insCTTTTTTTTTTTCTTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148524121	A A	ATATATAT others(10): Show ATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 NA18999.hp1 HG00741.hp1 NA18999.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0006 a0002c0005t0002 a0002c0005t0006	a0002c0005t0002g0122 a0002c0005t0006g0134 a0002c0005t0002g0122 a0002c0005t0006g0134	2	58	0.0345	17	c.121 others(36): Show c.1210-1169_1210-1168insATATATATATATATTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH3_chrX_129774949_129800201	129789109	A A	AAAAAGAA others(10): Show AAAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	92	0.0109	17	c.300 others(32): Show c.300+535_300+536insAGAAAGAAAGAAAGAAA	SASH3	ENSG00000122122.10	transcript	ENST00000356892.4	protein_coding	3/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
SASH3_chrX_129774949_129800201	129789165	G G	GAAAGAAA others(10): Show GAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	254	0.0039	17	c.300 others(32): Show c.300+589_300+590insAAGAAAGAAAGAAAGAA	SASH3	ENSG00000122122.10	transcript	ENST00000356892.4	protein_coding	3/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
SAT1_chrX_23778173_23791210	23780471	A A	ATATATAT others(10): Show ATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	324	0.0031	17	c.-28 others(28): Show c.-2881_-2880insTATATATATATATATAT	SAT1	ENSG00000130066.17	transcript	ENST00000379270.5	protein_coding		2701		chrX	TogoVar
SATB1_chr3_18340377_18430339	18344358	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG01106.hp2 HG02922.hp1 others(7): Show HG00642.hp1 HG01106.hp2 HG02922.hp1 NA18948.hp2 NA18972.hp2 NA19065.hp1 NA19076.hp2 NA19077.hp1 NA19081.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0007 a0001c0001t0019 others(5): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0019 a0001c0001t0020 a0001c0001t0050 a0001c0001t0074 a0001c0001t0091 a0001c0002t0003	a0001c0001t0003g0121 a0001c0001t0007g0090 a0001c0001t0007g0096 others(7): Show a0001c0001t0003g0121 a0001c0001t0007g0090 a0001c0001t0007g0096 a0001c0001t0007g0097 a0001c0001t0019g0292 a0001c0001t0020g0001 a0001c0001t0050g0027 a0001c0001t0074g0094 a0001c0001t0091g0211 a0001c0002t0003g0184	10	72	0.1389	17	c.47 others(28): Show c.4795_*4811dupAAAAAAAAAAAAAAAAA	SATB1	ENSG00000182568.18	transcript	ENST00000338745.11	protein_coding		1018		chr3	TogoVar
SBF2_chr11_9773668_10299219	10094528	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01361.hp1 HG01981.hp2 others(2): Show HG00735.hp2 HG01361.hp1 HG01981.hp2 HG04115.hp2 NA18948.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004	a0001c0001t0003 a0001c0003t0004 a0002c0002t0001 others(2): Show a0001c0001t0003 a0001c0003t0004 a0002c0002t0001 a0002c0002t0004 a0003c0004t0003	a0001c0001t0003g0020 a0001c0003t0004g0205 a0002c0002t0001g0011 others(2): Show a0001c0001t0003g0020 a0001c0003t0004g0205 a0002c0002t0001g0011 a0002c0002t0004g0013 a0003c0004t0003g0027	5	83	0.0602	17	c.142 others(36): Show c.142-51564_142-51548dupAAAAAAAAAAAAAAAAA	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	2/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10196876	T T	TTTTTTTT others(10): Show TTTTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0189 a0001c0001t0002g0189	1	214	0.0047	17	c.56- others(32): Show c.56-2890_56-2889insGAAAAAAAAAAAAAAAA	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10211014	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01106.hp1 HG01496.hp1 others(4): Show HG00733.hp1 HG01106.hp1 HG01496.hp1 HG01975.hp1 HG01993.hp1 HG03669.hp2 NA19082.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0004 others(1): Show a0001c0001 a0002c0002 a0003c0004 a0004c0006	a0001c0001t0002 a0002c0002t0001 a0002c0002t0004 others(2): Show a0001c0001t0002 a0002c0002t0001 a0002c0002t0004 a0003c0004t0003 a0004c0006t0002	a0001c0001t0002g0049 a0001c0001t0002g0053 a0001c0001t0002g0058 others(4): Show a0001c0001t0002g0049 a0001c0001t0002g0053 a0001c0001t0002g0058 a0002c0002t0001g0002 a0002c0002t0004g0063 a0003c0004t0003g0178 a0004c0006t0002g0016	7	11	0.6364	17	c.56- others(34): Show c.56-17044_56-17028dupTTTTTTTTTTTTTTTTT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar

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