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
SLC8A3_chr14_70039215_70193951	70192023	A A	ATAATTAA others(26): Show ATAATTAATAATAATTATTATTATTATTAATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0074 a0001c0003t0074	a0001c0003t0074g0290 a0001c0003t0074g0290	1	261	0.0038	33	c.-37 others(44): Show c.-3708_-3707insATTATTAATAATAATAATAATTATTATTAATTA	SLC8A3	ENSG00000100678.20	transcript	ENST00000356921.7	protein_coding		3073		chr14	TogoVar
SLC8A3_chr14_70039215_70193951	70192023	A A	ATTAATAA others(26): Show ATTAATAATAATAATAATAATAATAATTATTAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0070 a0001c0001t0005g0070	1	261	0.0038	33	c.-37 others(44): Show c.-3708_-3707insATTAATAATTATTATTATTATTATTATTATTAA	SLC8A3	ENSG00000100678.20	transcript	ENST00000356921.7	protein_coding		3073		chr14	TogoVar
SLC9A2_chr2_102614553_102716355	102646768	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03486.hp2 HG02723.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0036 a0001c0001t0001 a0001c0001t0036	a0001c0001t0001g0330 a0001c0001t0036g0296 a0001c0001t0001g0330 a0001c0001t0036g0296	2	98	0.0204	33	c.290 others(52): Show c.290-10796_290-10795insTATATATATATATATATATATATATA TATATAT	SLC9A2	ENSG00000115616.3	transcript	ENST00000233969.3	protein_coding	1/11			chr2	TogoVar
SLC9A3_chr5_465456_529449	495377	G G	GCTCCGCG others(26): Show GCTCCGCGCCATCGCCGACCCTCCCCACGCTCCA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01891.hp2 HG03209.hp1 others(2): Show HG01192.hp1 HG01891.hp2 HG03209.hp1 NA18942.hp2 NA18957.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0008c0023 a0001c0001 a0002c0002 a0008c0023	a0001c0001t0001 a0002c0002t0002 a0008c0023t0007 a0001c0001t0001 a0002c0002t0002 a0008c0023t0007	a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0128 others(2): Show a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0128 a0002c0002t0002g0149 a0008c0023t0007g0147	5	36	0.1389	33	c.212 others(50): Show c.212-3307_212-3306insTGGAGCGTGGGGAGGGTCGGCGATGGCG CGGAG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLC9A8_chr20_49807828_49897242	49884233	C C	CACGACAC others(26): Show CACGACACACACACACACGACACACACACACACG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	331	0.0030	33	c.149 others(50): Show c.1491+169_1491+170insGACACACACACACACGACACACACACAC ACGAC	SLC9A8	ENSG00000197818.12	transcript	ENST00000361573.3	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC9A8_chr20_49807828_49897242	49884289	G G	GACACACA others(26): Show GACACACACGACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0070 a0001c0003t0007g0070	1	157	0.0064	33	c.149 others(50): Show c.1491+231_1491+232insGACACACACACACACACACACACACACA CACAC	SLC9A8	ENSG00000197818.12	transcript	ENST00000361573.3	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLCO3A1_chr15_91848708_92170903	92046986	T T	TATATATA others(26): Show TATATATAAATATATATATATAAATATATATATA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	188	0.0053	33	c.647 others(52): Show c.647-47844_647-47812dupTATAAATATATATATAATATATAAAT ATATATA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLCO4A1_chr20_62637503_62677293	62666114	C C	CGCCCCCC others(26): Show CGCCCCCCCGCCCCCCCGCCCCCCCCCTTCCCCT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0361 a0001c0013t0001g0361	1	421	0.0024	33	c.127 others(50): Show c.1277-266_1277-265insGCCCCCCCGCCCCCCCGCCCCCCCCCTT CCCCT	SLCO4A1	ENSG00000101187.16	transcript	ENST00000217159.6	protein_coding	6/11			chr20	TogoVar
SLCO4A1_chr20_62637503_62677293	62666115	C C	CCCCGCCC others(26): Show CCCCGCCCCCCCCCTTCCCCTTCCCCTTCCCCTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01192.hp1 HG01257.hp2 others(4): Show HG01099.hp1 HG01192.hp1 HG01257.hp2 HG03927.hp1 NA18955.hp2 NA19056.hp1 NA19077.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0026 a0002c0002 others(1): Show a0001c0001 a0001c0026 a0002c0002 a0002c0009	a0001c0001t0002 a0001c0001t0003 a0001c0001t0014 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0014 a0001c0026t0003 a0002c0002t0002 a0002c0009t0002	a0001c0001t0002g0168 a0001c0001t0003g0105 a0001c0001t0003g0167 others(4): Show a0001c0001t0002g0168 a0001c0001t0003g0105 a0001c0001t0003g0167 a0001c0001t0014g0181 a0001c0026t0003g0097 a0002c0002t0002g0103 a0002c0009t0002g0248	7	354	0.0198	33	c.127 others(50): Show c.1277-263_1277-262insCGCCCCCCCCCTTCCCCTTCCCCTTCCC CTTCC	SLCO4A1	ENSG00000101187.16	transcript	ENST00000217159.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLCO4A1_chr20_62637503_62677293	62666118	G G	GCCCCCCC others(26): Show GCCCCCCCCCCTTCCCCTTCCCCTTCCCCTTCCC	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0128 a0002c0002t0003g0128	1	139	0.0072	33	c.127 others(50): Show c.1277-261_1277-260insCCCCCCCCCTTCCCCTTCCCCTTCCCCT TCCCC	SLCO4A1	ENSG00000101187.16	transcript	ENST00000217159.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLFN13_chr17_35430096_35453766	35434438	A A	AAAGAAAG others(26): Show AAAGAAAGAAAGAAAGAAAGAAAGAGGAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0016 a0016	a0016c0025 a0016c0025	a0016c0025t0032 a0016c0025t0032	a0016c0025t0032g0061 a0016c0025t0032g0061	1	454	0.0022	33	c.61 others(44): Show c.6156_*6157insCTTCCTTCCTCTTTCTTTCTTTCTTTCTTTCTT	SLFN13	ENSG00000154760.14	transcript	ENST00000285013.11	protein_coding		657		chr17	TogoVar
SLFN14_chr17_35538985_35565819	35561745	A A	AGAAAGAA others(26): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0011 a0002c0012t0011	a0002c0012t0011g0009 a0002c0012t0011g0009	1	197	0.0051	33	c.-11 others(44): Show c.-1103_-1102insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	SLFN14	ENSG00000236320.4	transcript	ENST00000674182.1	protein_coding		927		chr17	TogoVar
SLFN14_chr17_35538985_35565819	35561749	A A	AGAAAGAA others(26): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0006 a0008c0009t0006	a0008c0009t0006g0126 a0008c0009t0006g0126	1	280	0.0036	33	c.-11 others(44): Show c.-1107_-1106insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	SLFN14	ENSG00000236320.4	transcript	ENST00000674182.1	protein_coding		931		chr17	TogoVar
SLMAP_chr3_57751309_57935003	57906300	C C	CTTTTTTT others(26): Show CTTTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG03831.hp1 HG01978.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0195 a0001c0001t0002g0050 a0001c0001t0002g0195	2	242	0.0083	33	c.150 others(52): Show c.1502-1576_1502-1575insCTTTTTCTTTTTTTTTTTTTTTTTTT TTTTTTT	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLMAP_chr3_57751309_57935003	57906310	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG03688.hp1 NA19077.hp1 HG00733.hp1 HG03688.hp1 NA19077.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0204 a0001c0002t0001g0209 a0001c0002t0001g0271 a0001c0002t0001g0204 a0001c0002t0001g0209 a0001c0002t0001g0271	3	122	0.0246	33	c.150 others(52): Show c.1502-1552_1502-1551insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLPI_chr20_45247239_45259564	45258282	A A	ATAGATAG others(26): Show ATAGATAGATAGATAGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	381	0.0026	33	c.-37 others(44): Show c.-3740_-3739insATCTATCTATCTATCTATCTATCTATCTATCTA	SLPI	ENSG00000124107.5	transcript	ENST00000338380.2	protein_coding		3719		chr20	TogoVar
SLTM_chr15_58874050_58938679	58882181	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG01975.hp2 others(1): Show HG01516.hp2 HG01517.hp1 HG01975.hp2 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0071 a0001c0001t0002g0019 a0001c0001t0002g0342 a0001c0001t0001g0071 a0001c0001t0002g0019 a0001c0001t0002g0342	4	34	0.1176	33	c.299 others(52): Show c.2996+1444_2996+1445insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	SLTM	ENSG00000137776.17	transcript	ENST00000380516.7	protein_coding	20/20			chr15	TogoVar
SLX4IP_chr20_10430305_10633030	10452678	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0208 a0001c0001t0053g0208	1	118	0.0085	33	c.-29 others(50): Show c.-29-5498_-29-5497insTATATATATATATATATATATATATATA TATAT	SLX4IP	ENSG00000149346.15	transcript	ENST00000334534.10	protein_coding	1/7			chr20	TogoVar
SLX4IP_chr20_10430305_10633030	10452680	A A	AAATATAT others(26): Show AAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0028 a0006c0009t0028	a0006c0009t0028g0207 a0006c0009t0028g0207	1	38	0.0263	33	c.-29 others(50): Show c.-29-5495_-29-5494insATATATATATATATATATATATATATAT ATATA	SLX4IP	ENSG00000149346.15	transcript	ENST00000334534.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLX9_chr21_44935029_44981973	44978398	C C	CGTGTGGA others(26): Show CGTGTGGAGCGGGTGTGGGGCGCGTGTGGAACGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG02647.hp1 HG02647.hp2 others(2): Show HG01109.hp1 HG02647.hp1 HG02647.hp2 HG03471.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0180 a0001c0001t0001g0182 others(1): Show a0001c0001t0001g0032 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0199	5	299	0.0167	33	c.15 others(44): Show c.1595_*1596insGTGTGGAGCGGGTGTGGGGCGCGTGTGGAACGT	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		1426		chr21	TogoVar
SLX9_chr21_44935029_44981973	44978541	G G	GGTGTGGG others(26): Show GGTGTGGGGCGCGTGTGGGGCGGGTGTGGGGCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	316	0.0032	33	c.17 others(44): Show c.1738_*1739insGTGTGGGGCGCGTGTGGGGCGGGTGTGGGGCGC	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		1569		chr21	TogoVar
SLX9_chr21_44935029_44981973	44978662	G G	GGTGTGGG others(26): Show GGTGTGGGGCGCGTGTGGGGCGCGTGTGGGGCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	179	0.0056	33	c.18 others(44): Show c.1859_*1860insGTGTGGGGCGCGTGTGGGGCGCGTGTGGGGCGC	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		1690		chr21	TogoVar
SLX9_chr21_44935029_44981973	44978736	G G	GCGCGTGT others(26): Show GCGCGTGTGGGGCGGGTGTGGGGCGCGTGTGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	327	0.0031	33	c.19 others(44): Show c.1933_*1934insCGCGTGTGGGGCGGGTGTGGGGCGCGTGTGGAA	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		1764		chr21	TogoVar
SMAD2_chr18_47803957_47935659	47850587	A A	AATGTATA others(26): Show AATGTATAATATATATTATATATAACATATAATG	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0249 a0001c0001t0046g0249	1	304	0.0033	33	c.784 others(48): Show c.784+686_784+687insCATTATATGTTATATATAATATATATTATA CAT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47882041	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02129.hp1 NA20752.hp1 HG02015.hp1 HG02129.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0045 a0001c0001t0118 a0001c0001t0013 a0001c0001t0045 a0001c0001t0118	a0001c0001t0013g0221 a0001c0001t0045g0248 a0001c0001t0118g0298 a0001c0001t0013g0221 a0001c0001t0045g0248 a0001c0001t0118g0298	3	42	0.0714	33	c.237 others(52): Show c.237-11478_237-11477insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	2/10			chr18	TogoVar
SMARCA4_chr19_10956030_11067273	11061204	A A	AAAAAAAA others(26): Show AAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0080 a0001c0002t0001g0080	1	191	0.0052	33	c.491 others(50): Show c.4912-579_4912-578insAAAAAAAAATATATATATATATATATAT ATATA	SMARCA4	ENSG00000127616.22	transcript	ENST00000344626.10	protein_coding	34/34		INFO_REALIGN_3_PRIME	chr19	TogoVar
SMARCC1_chr3_47580269_47786893	47671173	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0078 a0001c0001t0004g0078	1	111	0.0090	33	c.184 others(50): Show c.1840-457_1840-456insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	18/27			chr3	TogoVar
SMARCC1_chr3_47580269_47786893	47671196	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0097 a0001c0001t0002g0097	1	120	0.0083	33	c.184 others(50): Show c.1840-480_1840-479insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	18/27			chr3	TogoVar
SMARCE1_chr17_40619962_40652818	40626865	A A	ACTCCAAC others(26): Show ACTCCAACTCAAAAAAAAAAAAAAAAAAAAAAGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02895.hp1 HG03471.hp2 HG03540.hp2 HG02895.hp1 HG03471.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0045 a0001c0001t0012g0114 a0001c0001t0012g0045 a0001c0001t0012g0114	3	109	0.0275	33	c.19 others(44): Show c.1919_*1920insGCTTTTTTTTTTTTTTTTTTTTTTGAGTTGGAG	SMARCE1	ENSG00000073584.20	transcript	ENST00000348513.12	protein_coding	11/11	1919		chr17	TogoVar
SMC1A_chrX_53369149_53427654	53402868	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02615.hp1 HG01106.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0092 a0001c0001t0001g0047 a0001c0001t0001g0092	2	11	0.1818	33	c.242 others(50): Show c.2420+697_2420+698insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	15/24			chrX	TogoVar
SMG6_chr17_2054843_2308785	2114959	T T	TAAAATAA others(26): Show TAAAATAAAATAAAATAAAATAAAATAAAATAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03139.hp1 HG03669.hp2 HG02055.hp1 HG03139.hp1 HG03669.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0002 a0004c0004t0021 a0004c0004t0022 a0002c0002t0002 a0004c0004t0021 a0004c0004t0022	a0002c0002t0002g0049 a0004c0004t0021g0219 a0004c0004t0022g0051 a0002c0002t0002g0049 a0004c0004t0021g0219 a0004c0004t0022g0051	3	96	0.0313	33	c.335 others(54): Show c.3358-29059_3358-29058insTTTATTTTATTTTATTTTATTTTA TTTTATTTT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	13/18			chr17	TogoVar
SMG6_chr17_2054843_2308785	2130266	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0109 a0002c0002t0002g0109	1	87	0.0115	33	c.335 others(54): Show c.3357+42391_3357+42392insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	13/18			chr17	TogoVar
SMIM3_chr5_150773757_150801734	150797318	A A	ATATATAT others(26): Show ATATATATATATATATATATATTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	169	0.0059	33	c.16 others(44): Show c.1695_*1696insTATATATATATATATATATATTTTTTTTTTTTT	SMIM3	ENSG00000256235.3	transcript	ENST00000526627.2	protein_coding		585		chr5	TogoVar
SMIM3_chr5_150773757_150801734	150797318	A A	ATATATAT others(26): Show ATATATATATATATATATATTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	169	0.0059	33	c.16 others(44): Show c.1695_*1696insTATATATATATATATATATTTTTTTTTTTTTTT	SMIM3	ENSG00000256235.3	transcript	ENST00000526627.2	protein_coding		585		chr5	TogoVar
SMIM3_chr5_150773757_150801734	150797318	A A	ATATATAT others(26): Show ATATATATATATATATTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	169	0.0059	33	c.16 others(44): Show c.1695_*1696insTATATATATATATATTTTTTTTTTTTTTTTTTT	SMIM3	ENSG00000256235.3	transcript	ENST00000526627.2	protein_coding		585		chr5	TogoVar
SMIM8_chr6_87317588_87347329	87332319	C C	CATATATA others(26): Show CATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0073 a0001c0001t0022g0073	1	416	0.0024	33	c.-24 others(50): Show c.-24+1607_-24+1608insATATATATATATATATATATATATATAT ATATA	SMIM8	ENSG00000111850.11	transcript	ENST00000392863.6	protein_coding	2/3			chr6	TogoVar
SMTN_chr22_31076318_31109624	31088585	T T	TGTGGAGG others(26): Show TGTGGAGGAATTGACTGCACTGGTGAGGCCCAGG	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0016 a0016	a0016c0016 a0016c0016	a0016c0016t0001 a0016c0016t0001	a0016c0016t0001g0172 a0016c0016t0001g0172	1	360	0.0028	33	c.274 others(43): Show c.274_294+12dupGTGGAGGAATTGACTGCACTGGTGAGGCCCAGG	SMTN	ENSG00000183963.19	transcript	ENST00000333137.12	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr22	TogoVar
SMURF2_chr17_64537282_64667307	64566561	G G	GTTTTTTT others(26): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	42	0.0238	33	c.101 others(52): Show c.1017-3596_1017-3595insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	SMURF2	ENSG00000108854.16	transcript	ENST00000262435.14	protein_coding	10/18			chr17	TogoVar
SMYD1_chr2_88062825_88118384	88065199	T T	TCCCCTCC others(26): Show TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG01123.hp1 HG00280.hp2 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0146 a0001c0001t0002g0088 a0001c0001t0002g0146	2	336	0.0060	33	c.-26 others(44): Show c.-2666_-2665insCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC	SMYD1	ENSG00000115593.15	transcript	ENST00000419482.7	protein_coding		2625		chr2	TogoVar
SMYD3_chr1_245744347_246512279	245833073	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAACACAAC	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0040 a0001c0002t0002g0040	1	70	0.0143	33	c.107 others(54): Show c.1076+25422_1076+25423insGTTGTGTTTTTTTTTTTTTTTTTT TTTTTTTTT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	10/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246024565	A A	AGAGAGAT others(26): Show AGAGAGATACAGGAAGTGGACAGCATCTAGGAAG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02970.hp2 NA19030.hp1 HG02922.hp2 HG02970.hp2 NA19030.hp1	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0001 a0002c0003t0002 a0002c0004t0002 a0002c0003t0001 a0002c0003t0002 a0002c0004t0002	a0002c0003t0001g0096 a0002c0003t0002g0095 a0002c0004t0002g0116 a0002c0003t0001g0096 a0002c0003t0002g0095 a0002c0004t0002g0116	3	133	0.0226	33	c.532 others(52): Show c.532-94629_532-94628insCTTCCTAGATGCTGTCCACTTCCTGT ATCTCTC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNAP23_chr15_42490634_42538058	42525451	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0234 a0001c0002t0003g0234	1	68	0.0147	33	c.267 others(50): Show c.267-2781_267-2780insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	SNAP23	ENSG00000092531.10	transcript	ENST00000249647.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
SNCA_chr4_89719099_89842161	89802616	C C	CTTTCTTT others(26): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0079 a0001c0001t0006g0079	1	337	0.0030	33	c.306 others(52): Show c.306+19629_306+19630insAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAA	SNCA	ENSG00000145335.17	transcript	ENST00000394991.8	protein_coding	4/5			chr4	TogoVar
SNRK_chr3_43281540_43356143	43322951	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	7	0.1429	33	c.590 others(50): Show c.590-9203_590-9202insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	SNRK	ENSG00000163788.14	transcript	ENST00000296088.12	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
SNRPC_chr6_34752505_34778857	34768776	G G	GACTTGTC others(26): Show GACTTGTCTATAGATATAAGAATATATAAGATTA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	193	0.0052	33	c.250 others(48): Show c.250+780_250+781insCTTGTCTATAGATATAAGAATATATAAGAT TAA	SNRPC	ENSG00000124562.10	transcript	ENST00000244520.10	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNTG1_chr8_49906407_50801692	49938603	T T	TTTTTTTT others(26): Show TTTTTTTTCTTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03225.hp2 HG02647.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0097 a0001c0001t0011g0099 a0001c0001t0011g0097 a0001c0001t0011g0099	2	35	0.0571	33	c.-10 others(54): Show c.-103+26375_-103+26376insTTTTCTTTTCTTTCTTTCTTTCTT TCTTTCTTT	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNTG1_chr8_49906407_50801692	50542035	C C	CATATGTA others(26): Show CATATGTATATATACATATATATATGAATGTAGT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01167.hp2 HG01192.hp2 others(37): Show HG00280.hp2 HG01167.hp2 HG01192.hp2 HG01884.hp2 HG02055.hp2 HG02145.hp2 HG02451.hp1 HG02622.hp2 HG02698.hp2 HG02723.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03516.hp2 HG03540.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA18944.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(24): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0020 a0001c0001t0024 a0001c0001t0033 a0001c0001t0037 a0001c0001t0046 a0001c0001t0049 a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0002t0014 a0001c0002t0021 a0001c0002t0034 a0001c0002t0036 a0001c0002t0044 a0001c0002t0045 a0001c0002t0047 a0001c0005t0019 a0002c0003t0018 a0002c0003t0043	a0001c0001t0002g0010 a0001c0001t0002g0015 a0001c0001t0002g0026 others(37): Show a0001c0001t0002g0010 a0001c0001t0002g0015 a0001c0001t0002g0026 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0003g0007 a0001c0001t0003g0027 a0001c0001t0004g0072 a0001c0001t0004g0079 a0001c0001t0004g0088 a0001c0001t0004g0094 a0001c0001t0005g0035 a0001c0001t0006g0051 a0001c0001t0006g0066 a0001c0001t0007g0006 a0001c0001t0008g0071 a0001c0001t0008g0091 a0001c0001t0012g0049 a0001c0001t0020g0043 a0001c0001t0024g0058 a0001c0001t0033g0056 a0001c0001t0037g0034 a0001c0001t0046g0104 a0001c0001t0049g0106 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0003g0029 a0001c0002t0003g0041 a0001c0002t0006g0054 a0001c0002t0014g0014 a0001c0002t0014g0076 a0001c0002t0021g0073 a0001c0002t0034g0062 a0001c0002t0036g0016 a0001c0002t0044g0047 a0001c0002t0045g0046 a0001c0002t0047g0103 a0001c0005t0019g0044 a0002c0003t0018g0045 a0002c0003t0043g0050	40	106	0.3774	33	c.680 others(50): Show c.680+5250_680+5282dupATGAATGTAGTATATGTATATATACATA TATAT	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	11/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNTG1_chr8_49906407_50801692	50542061	A A	AATGTAGT others(26): Show AATGTAGTATATGTATATATACATATATATATGG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01071.hp1 HG01167.hp1 others(27): Show HG00621.hp2 HG01071.hp1 HG01167.hp1 HG01884.hp1 HG01978.hp1 HG02055.hp1 HG02300.hp1 HG02451.hp2 HG02622.hp1 HG02723.hp2 HG02809.hp2 HG02896.hp2 HG02897.hp1 HG03041.hp1 HG03139.hp2 HG03209.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03516.hp1 HG03942.hp1 HG04115.hp2 NA18906.hp1 NA18952.hp1 NA18968.hp2 NA18992.hp2 NA19060.hp2 NA19068.hp1 NA19085.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(17): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0017 a0001c0001t0022 a0001c0001t0023 a0001c0001t0030 a0001c0001t0032 a0001c0001t0040 a0001c0001t0048 a0001c0001t0050 a0001c0002t0001 a0001c0002t0006 a0001c0002t0010 a0001c0002t0025 a0001c0002t0039	a0001c0001t0002g0017 a0001c0001t0002g0042 a0001c0001t0003g0019 others(27): Show a0001c0001t0002g0017 a0001c0001t0002g0042 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0004g0074 a0001c0001t0004g0078 a0001c0001t0004g0102 a0001c0001t0005g0018 a0001c0001t0005g0021 a0001c0001t0005g0022 a0001c0001t0005g0023 a0001c0001t0005g0024 a0001c0001t0009g0100 a0001c0001t0009g0101 a0001c0001t0010g0030 a0001c0001t0013g0009 a0001c0001t0017g0057 a0001c0001t0022g0004 a0001c0001t0023g0002 a0001c0001t0030g0053 a0001c0001t0032g0052 a0001c0001t0040g0005 a0001c0001t0048g0105 a0001c0001t0050g0038 a0001c0002t0001g0082 a0001c0002t0006g0064 a0001c0002t0006g0065 a0001c0002t0010g0028 a0001c0002t0025g0090 a0001c0002t0039g0075	30	106	0.2830	33	c.680 others(50): Show c.680+5282_680+5283insATGGATGTAGTATATGTATATATACATA TATAT	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	11/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNTG1_chr8_49906407_50801692	50660426	G G	GAAAGAAA others(26): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02896.hp2 HG02897.hp1 HG02055.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0010 a0001c0001t0009 a0001c0001t0010	a0001c0001t0009g0100 a0001c0001t0009g0101 a0001c0001t0010g0030 a0001c0001t0009g0100 a0001c0001t0009g0101 a0001c0001t0010g0030	3	100	0.0300	33	c.103 others(52): Show c.1038+1765_1038+1766insAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAA	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNTG1_chr8_49906407_50801692	50701579	T T	TTTCTTCT others(26): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03516.hp1 HG03540.hp1 others(2): Show HG03139.hp2 HG03516.hp1 HG03540.hp1 HG04115.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0013 a0001c0001t0030 others(1): Show a0001c0001t0005 a0001c0001t0013 a0001c0001t0030 a0001c0001t0031	a0001c0001t0005g0018 a0001c0001t0005g0035 a0001c0001t0013g0009 others(2): Show a0001c0001t0005g0018 a0001c0001t0005g0035 a0001c0001t0013g0009 a0001c0001t0030g0053 a0001c0001t0031g0055	5	76	0.0658	33	c.103 others(52): Show c.1039-3015_1039-3014insTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTC	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr8	TogoVar

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