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
S100B_chr21_46593604_46610082	46603392	A A	AGGGGGTG others(24): Show AGGGGGTGGGGGGAGGGGGGGGGGCGGGGGGG	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0069 a0001c0002t0002g0069	1	41	0.0244	31	c.-1- others(44): Show c.-1-977_-1-976insCCCCCCCGCCCCCCCCCCTCCCCCCACCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100B_chr21_46593604_46610082	46603392	A A	AGGGGGTG others(24): Show AGGGGGTGGGGGGGAGGGGGGGGCGGGGGGGG	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	41	0.0244	31	c.-1- others(44): Show c.-1-977_-1-976insCCCCCCCCGCCCCCCCCTCCCCCCCACCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100B_chr21_46593604_46610082	46603392	A A	AGGGGGTG others(24): Show AGGGGGTGGGGGGGAGGGGGGGGGCGGGGGGG	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18993.hp2 NA18949.hp2 NA18993.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0030 a0001c0002t0002g0030	2	42	0.0476	31	c.-1- others(44): Show c.-1-977_-1-976insCCCCCCCGCCCCCCCCCTCCCCCCCACCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100B_chr21_46593604_46610082	46603398	T T	TGGGGGGA others(24): Show TGGGGGGAGGGGGGGGCGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0150 a0001c0002t0001g0150	1	411	0.0024	31	c.-1- others(44): Show c.-1-983_-1-982insCCCCCCCCCCCCCCCGCCCCCCCCTCCCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100B_chr21_46593604_46610082	46603398	T T	TGGGGGGA others(24): Show TGGGGGGAGGGGGGGGCGGGGGGGGGGGGGTG	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0074 a0001c0002t0002g0074	1	411	0.0024	31	c.-1- others(44): Show c.-1-983_-1-982insCACCCCCCCCCCCCCGCCCCCCCCTCCCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100B_chr21_46593604_46610082	46603398	T T	TGGGGGGA others(24): Show TGGGGGGAGGGGGGGGGCGGGGGGGGGGGGTG	intron_variant intron_variant	MODIFIER	HG02738.hp1 NA18987.hp2 HG02738.hp1 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0149 a0001c0002t0002g0075 a0001c0001t0001g0149 a0001c0002t0002g0075	2	412	0.0049	31	c.-1- others(44): Show c.-1-983_-1-982insCACCCCCCCCCCCCGCCCCCCCCCTCCCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S1PR4_chr19_3173769_3185332	3176850	A A	AAGGCTGA others(24): Show AAGGCTGAGCCTCCCTCCTCAGACCCCAGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	416	0.0024	31	c.-19 others(42): Show c.-1943_-1942insAGGCTGAGCCTCCCTCCTCAGACCCCAGGGC	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		1918		chr19	TogoVar
SAAL1_chr11_18075292_18111082	18076631	A A	AAAAAAAG others(24): Show AAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0110 a0003c0003t0001g0110	1	221	0.0045	31	c.37 others(42): Show c.3767_*3768insCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTT	SAAL1	ENSG00000166788.10	transcript	ENST00000524803.6	protein_coding		3660		chr11	TogoVar
SAAL1_chr11_18075292_18111082	18076631	A A	AAAGAAAG others(24): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0066 a0004c0004t0001g0066	1	221	0.0045	31	c.37 others(42): Show c.3767_*3768insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	SAAL1	ENSG00000166788.10	transcript	ENST00000524803.6	protein_coding		3660		chr11	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0010 a0001c0002t0002g0010	1	53	0.0189	31	c.-28 others(42): Show c.-2803_-2802insTATATATATATATATATATATATATTTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(24): Show ATATATATATATATATATATATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp2 NA19054.hp2 NA19009.hp2 NA19054.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0002 a0001c0002t0005	a0001c0002t0002g0035 a0001c0002t0005g0161 a0001c0002t0002g0035 a0001c0002t0005g0161	2	54	0.0370	31	c.-28 others(42): Show c.-2803_-2802insTATATATATATATATATATATTTTTTTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(24): Show ATATATATATATATATATATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0151 a0001c0002t0003g0151	1	53	0.0189	31	c.-28 others(42): Show c.-2803_-2802insTATATATATATATATATATTTTTTTTTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(24): Show ATATATATATATATATATTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 NA18985.hp1 HG02165.hp2 NA18985.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0145 a0001c0002t0003g0165 a0001c0002t0003g0145 a0001c0002t0003g0165	2	54	0.0370	31	c.-28 others(42): Show c.-2803_-2802insTATATATATATATATATTTTTTTTTTTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(24): Show ATATATATATATATATTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0002 a0001c0002t0003g0002	1	53	0.0189	31	c.-28 others(42): Show c.-2803_-2802insTATATATATATATATTTTTTTTTTTTTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(24): Show ATATATATTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0023 a0002c0001t0001g0023	1	53	0.0189	31	c.-28 others(42): Show c.-2803_-2802insTATATATTTTTTTTTTTTTTTTTTTTTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SAE1_chr19_47125835_47215636	47215519	T T	TGAAGGTG others(24): Show TGAAGGTGAGCATCATGCTGTATCCTGGAAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	378	0.0026	31	c.62 others(42): Show c.6268_*6269insGAAGGTGAGCATCATGCTGTATCCTGGAAGC	SAE1	ENSG00000142230.13	transcript	ENST00000270225.12	protein_coding		4884		chr19	TogoVar
SARAF_chr8_30058003_30088064	30064561	A A	ATATATAT others(24): Show ATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG03927.hp2 HG00639.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0045 a0001c0001t0004g0045	2	14	0.1429	31	c.995 others(46): Show c.995-649_995-648insAAAAAAAAAAAAAAATATATATATATATAT A	SARAF	ENSG00000133872.14	transcript	ENST00000256255.11	protein_coding	5/5			chr8	TogoVar
SARDH_chr9_133658560_133743352	133668559	C C	CCCTCATC others(24): Show CCCTCATCCTCCCTCTCCCTCACCTTCCCTCT	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	236	0.0042	31	c.249 others(50): Show c.2496-1690_2496-1689insAGAGGGAAGGTGAGGGAGAGGGAGGA TGAGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SAT1_chrX_23778173_23791210	23780474	A A	ATATATAT others(24): Show ATATATATATATATATATAATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 NA19062.hp1 HG00438.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	258	0.0078	31	c.-28 others(42): Show c.-2878_-2877insTATATATATATATATATAATATATATATATT	SAT1	ENSG00000130066.17	transcript	ENST00000379270.5	protein_coding		2698		chrX	TogoVar
SAT1_chrX_23778173_23791210	23780476	A A	ATATATAT others(24): Show ATATATATATATATATATAATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp1 NA18985.hp1 NA18956.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	2	97	0.0206	31	c.-28 others(42): Show c.-2876_-2875insTATATATATATATATATAATATATATATATT	SAT1	ENSG00000130066.17	transcript	ENST00000379270.5	protein_coding		2696		chrX	TogoVar
SAT1_chrX_23778173_23791210	23780490	T T	TATAATAT others(24): Show TATAATATATATATATTATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 NA18948.hp1 HG03669.hp2 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0001 a0001c0001t0001g0004	2	198	0.0101	31	c.-28 others(42): Show c.-2862_-2861insATAATATATATATATTATATATATATATATA	SAT1	ENSG00000130066.17	transcript	ENST00000379270.5	protein_coding		2682		chrX	TogoVar
SBF2_chr11_9773668_10299219	10196866	A A	ATATATAT others(24): Show ATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0165 a0001c0003t0002g0165	1	12	0.0833	31	c.56- others(46): Show c.56-2880_56-2879insAAAAAAAAAAAAATATATATATATATATAT A	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10211014	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03831.hp2 HG02683.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0221 a0001c0001t0004g0219 a0001c0001t0002g0221 a0001c0001t0004g0219	2	6	0.3333	31	c.56- others(48): Show c.56-17028_56-17027insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SBK3_chr19_55535656_55550543	55543196	T T	TCCATCCA others(24): Show TCCATCCATCCACCATCCATCCATCCACCCAC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03017.hp2 HG02683.hp2 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0031 a0001c0002t0001g0031	2	436	0.0046	31	c.399 others(46): Show c.399+873_399+903dupGTGGGTGGATGGATGGATGGTGGATGGATG G	SBK3	ENSG00000231274.5	transcript	ENST00000612221.1	protein_coding	3/3			chr19	TogoVar
SBK3_chr19_55535656_55550543	55549930	A A	AGCTGAGC others(24): Show AGCTGAGCTCCTCCACTGGAGACCCGGGGCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG00609.hp1 others(76): Show HG00438.hp2 HG00558.hp1 HG00609.hp1 HG00639.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01074.hp1 HG01081.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01257.hp1 HG01258.hp1 HG01496.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01934.hp1 HG02056.hp1 HG02071.hp2 HG02132.hp2 HG02135.hp2 HG02155.hp1 HG02165.hp1 HG02280.hp2 HG02602.hp1 HG02717.hp1 HG02717.hp2 HG02970.hp2 HG03041.hp1 HG03225.hp1 HG03516.hp2 HG03704.hp2 HG03834.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18948.hp2 NA18949.hp2 NA18952.hp1 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp2 NA18963.hp2 NA18970.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18989.hp2 NA18990.hp1 NA18999.hp2 NA19002.hp1 NA19005.hp1 NA19005.hp2 NA19030.hp2 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19064.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA20129.hp1 NA20752.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004 a0005c0007	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0003c0004t0001 a0005c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0010 others(10): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0002t0001g0002 a0002c0003t0001g0004 a0003c0004t0001g0012 a0003c0004t0001g0057 a0005c0007t0001g0020	79	346	0.2283	31	c.-43 others(42): Show c.-4388_-4387insCAGCCCCGGGTCTCCAGTGGAGGAGCTCAGC	SBK3	ENSG00000231274.5	transcript	ENST00000612221.1	protein_coding		4388		chr19	TogoVar
SCAF1_chr19_49637209_49663642	49660028	C C	CACACACA others(24): Show CACACACACACACACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0053 a0001c0002t0002g0053	1	246	0.0041	31	c.16 others(42): Show c.1629_*1630insACACACACACACACACACACACACACACACA	SCAF1	ENSG00000126461.15	transcript	ENST00000360565.8	protein_coding		1387		chr19	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0144 a0001c0001t0003g0144	1	49	0.0204	31	c.98+ others(48): Show c.98+36510_98+36511insATATATTTTTTTTTTTTTTTTTTTTTTT TTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0014	a0002c0002t0014g0256 a0002c0002t0014g0256	1	49	0.0204	31	c.98+ others(48): Show c.98+36510_98+36511insATATATATTTTTTTTTTTTTTTTTTTTT TTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0279 a0002c0002t0001g0279	1	49	0.0204	31	c.98+ others(48): Show c.98+36510_98+36511insATATATATATTTTTTTTTTTTTTTTTTT TTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAMP1_chr5_78355617_78485739	78398355	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0164 a0001c0001t0029g0164	1	66	0.0152	31	c.135 others(48): Show c.135+9468_135+9469insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460796	C C	CTTTCTTT others(24): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0279 a0001c0001t0003g0279	1	293	0.0034	31	c.852 others(48): Show c.852+1434_852+1435insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8			chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460800	C C	CTTTCTTT others(24): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA18986.hp1 NA18992.hp1 HG03453.hp2 NA18986.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0003 a0001c0001t0011	a0001c0001t0003g0275 a0001c0001t0003g0305 a0001c0001t0011g0159 a0001c0001t0003g0275 a0001c0001t0003g0305 a0001c0001t0011g0159	3	267	0.0112	31	c.852 others(48): Show c.852+1438_852+1439insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8			chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460804	C C	CTTTCTTT others(24): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0278 a0001c0001t0003g0278	1	264	0.0038	31	c.852 others(48): Show c.852+1442_852+1443insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8			chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460812	C C	CTTTCTTT others(24): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0324 a0001c0001t0003g0324	1	234	0.0043	31	c.852 others(48): Show c.852+1450_852+1451insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8			chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460816	C C	CTTTCTTT others(24): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02273.hp1 HG00673.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0291 a0001c0001t0003g0319 a0001c0001t0003g0291 a0001c0001t0003g0319	2	221	0.0090	31	c.852 others(48): Show c.852+1454_852+1455insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8			chr5	TogoVar
SCAPER_chr15_76342904_76910340	76667650	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0191 a0002c0003t0002g0191	1	306	0.0033	31	c.250 others(50): Show c.2509-1862_2509-1861insGTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	20/31			chr15	TogoVar
SCEL_chr13_77530706_77650263	77633442	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02293.hp1 HG02071.hp1 HG02293.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0300 a0002c0001t0001g0312 a0002c0001t0001g0300 a0002c0001t0001g0312	2	103	0.0194	31	c.169 others(48): Show c.1692-913_1692-912insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	SCEL	ENSG00000136155.17	transcript	ENST00000349847.4	protein_coding	28/32		INFO_REALIGN_3_PRIME	chr13	TogoVar
SCHIP1_chr3_159268244_159902359	159668376	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0022	1	67	0.0149	31	c.64- others(48): Show c.64-96047_64-96046insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159680713	A A	AATATATG others(24): Show AATATATGTATATTATATAATATACATATATT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03579.hp2 HG01243.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0087 a0001c0004t0001g0018 a0001c0001t0001g0087 a0001c0004t0001g0018	2	97	0.0206	31	c.64- others(48): Show c.64-83718_64-83717insTATATAATATACATATATTATATATGTA TAT	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159681774	T T	TTTAACTC others(24): Show TTTAACTCAACGTTAACTTAGGTTAACTTGGG	intron_variant intron_variant	MODIFIER	HG01106.hp1 NA19058.hp2 HG01106.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0001g0062 a0001c0001t0001g0067	2	98	0.0204	31	c.64- others(48): Show c.64-82538_64-82508dupCAACGTTAACTTAGGTTAACTTGGGTTA ACT	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCIMP_chr17_5203920_5239860	5213008	C C	CTTTGAGG others(24): Show CTTTGAGGTGGTAACTTCTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00609.hp1 HG00621.hp2 others(30): Show HG00423.hp2 HG00609.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00738.hp1 HG01123.hp2 HG01175.hp2 HG01255.hp1 HG01361.hp1 HG01517.hp1 HG01928.hp2 HG01943.hp1 HG02135.hp2 HG02165.hp2 HG02273.hp2 HG02572.hp2 HG02602.hp2 HG02723.hp2 HG02976.hp1 HG03239.hp1 HG03669.hp2 HG03942.hp1 NA18612.hp2 NA18939.hp2 NA18955.hp2 NA18966.hp1 NA18967.hp2 NA18969.hp1 NA18973.hp2 NA18987.hp1 NA19003.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0002t0003 a0001c0002t0004 others(1): Show a0001c0001t0003 a0001c0002t0003 a0001c0002t0004 a0001c0003t0003	a0001c0001t0003g0212 a0001c0002t0003g0006 a0001c0002t0003g0043 others(27): Show a0001c0001t0003g0212 a0001c0002t0003g0006 a0001c0002t0003g0043 a0001c0002t0003g0044 a0001c0002t0003g0048 a0001c0002t0003g0049 a0001c0002t0003g0055 a0001c0002t0003g0056 a0001c0002t0003g0057 a0001c0002t0003g0058 a0001c0002t0003g0059 a0001c0002t0003g0060 a0001c0002t0003g0107 a0001c0002t0003g0157 a0001c0002t0003g0158 a0001c0002t0003g0159 a0001c0002t0003g0164 a0001c0002t0003g0165 a0001c0002t0003g0169 a0001c0002t0003g0171 a0001c0002t0003g0239 a0001c0002t0003g0283 a0001c0002t0003g0316 a0001c0002t0004g0108 a0001c0002t0004g0160 a0001c0002t0004g0161 a0001c0002t0004g0162 a0001c0002t0004g0163 a0001c0002t0004g0170 a0001c0003t0003g0148	33	275	0.1200	31	c.283 others(48): Show c.283+1916_283+1917insAAAAAAAAAAAAAAGAAGTTACCACCTC AAA	SCIMP	ENSG00000161929.15	transcript	ENST00000574081.6	protein_coding	4/4			chr17	TogoVar
SCIN_chr7_12565720_12665182	12578909	G G	GTTTTTTT others(24): Show GTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTT	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0172 a0001c0001t0172	a0001c0001t0172g0024 a0001c0001t0172g0024	1	166	0.0060	31	c.354 others(46): Show c.354+706_354+707insTTTTTTTTGTTTTTTTTTTTTTTTTTTTTT T	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
SCIN_chr7_12565720_12665182	12578909	G G	GTTTTTTT others(24): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG01167.hp2 others(10): Show HG00642.hp1 HG00642.hp2 HG01167.hp2 HG01243.hp2 HG01261.hp1 HG02027.hp2 HG02055.hp1 HG02300.hp1 HG02630.hp2 HG02965.hp1 HG04115.hp1 NA18747.hp2 NA18949.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0013 a0001c0001t0014 others(9): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0014 a0001c0001t0021 a0001c0001t0025 a0001c0001t0029 a0001c0001t0071 a0001c0001t0093 a0001c0001t0105 a0001c0001t0145 a0002c0002t0041 a0002c0002t0174	a0001c0001t0001g0029 a0001c0001t0013g0020 a0001c0001t0014g0021 others(10): Show a0001c0001t0001g0029 a0001c0001t0013g0020 a0001c0001t0014g0021 a0001c0001t0021g0010 a0001c0001t0025g0028 a0001c0001t0029g0019 a0001c0001t0071g0022 a0001c0001t0093g0043 a0001c0001t0105g0040 a0001c0001t0145g0041 a0002c0002t0041g0325 a0002c0002t0041g0326 a0002c0002t0174g0324	13	178	0.0730	31	c.354 others(46): Show c.354+706_354+707insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
SCLT1_chr4_128878993_129098539	128975040	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02258.hp2 HG03704.hp1 others(2): Show HG00423.hp2 HG02258.hp2 HG03704.hp1 NA19062.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0001t0001 a0001c0002t0001 a0001c0004t0001	a0001c0001t0001g0192 a0001c0002t0001g0107 a0001c0004t0001g0111 others(2): Show a0001c0001t0001g0192 a0001c0002t0001g0107 a0001c0004t0001g0111 a0001c0004t0001g0117 a0001c0004t0001g0118	5	82	0.0610	31	c.687 others(48): Show c.687-4573_687-4572insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	SCLT1	ENSG00000151466.12	transcript	ENST00000281142.10	protein_coding	9/20			chr4	TogoVar
SCN11A_chr3_38840764_39056944	38877021	G G	GTATATAT others(24): Show GTATATATATGGTATATATATGGTGTATATAC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0030 a0002c0003t0001g0030	1	210	0.0048	31	c.339 others(50): Show c.3393+2898_3393+2928dupGTATATACACCATATATATACCATAT ATATA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	23/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38877114	C C	CTATATAT others(24): Show CTATATATATGGTGTATATACTATATATATGG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02109.hp1 HG00639.hp2 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0002 a0001c0002t0004	a0001c0002t0002g0205 a0001c0002t0004g0195 a0001c0002t0002g0205 a0001c0002t0004g0195	2	279	0.0072	31	c.339 others(50): Show c.3393+2805_3393+2835dupCCATATATATAGTATATACACCATAT ATATA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	23/29			chr3	TogoVar
SCN2A_chr2_165234414_165397304	165291528	C C	CTTTTCTT others(24): Show CTTTTCTTTTCTTTCTTTCTTTCTTTCTTCCT	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0250 a0001c0001t0002g0250	1	280	0.0036	31	c.-51 others(48): Show c.-51-4245_-51-4244insTTTTCTTTTCTTTCTTTCTTTCTTTCTT CCT	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26			chr2	TogoVar
SCN8A_chr12_51586233_51817864	51721122	T T	TTATATAT others(24): Show TTATATATATATATAATATTTATTTATTGTTA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0014 a0001c0005t0014	a0001c0005t0014g0199 a0001c0005t0014g0200 a0001c0005t0014g0199 a0001c0005t0014g0200	2	196	0.0102	31	c.163 others(48): Show c.1636-414_1636-413insTATAATATTTATTTATTGTTATATATAT ATA	SCN8A	ENSG00000196876.19	transcript	ENST00000354534.11	protein_coding	11/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
SCNN1B_chr16_23297302_23386294	23305534	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	256	0.0039	31	c.-9+ others(46): Show c.-9+3097_-9+3098insATATATATATATATATATATATATATATAT A	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	1/12			chr16	TogoVar
SCNN1B_chr16_23297302_23386294	23343486	G G	GGAAGGAA others(24): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01884.hp2 HG01891.hp2 others(6): Show HG01167.hp2 HG01884.hp2 HG01891.hp2 HG02055.hp2 HG02145.hp2 HG02257.hp2 HG02280.hp2 HG02886.hp1 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0007 a0001c0001 a0001c0003 a0002c0007	a0001c0001t0001 a0001c0003t0001 a0002c0007t0001 a0001c0001t0001 a0001c0003t0001 a0002c0007t0001	a0001c0001t0001g0280 a0001c0001t0001g0285 a0001c0001t0001g0286 others(6): Show a0001c0001t0001g0280 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0298 a0001c0003t0001g0288 a0001c0003t0001g0289 a0001c0003t0001g0294 a0002c0007t0001g0283 a0002c0007t0001g0287	9	298	0.0302	31	c.-8- others(46): Show c.-8-5083_-8-5082insGGAAGGAAGAAGGAAGGAAGGAAGGAAGGA A	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar

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