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
S1PR4_chr19_3173769_3185332	3175072	C C	CCCCTCAT others(12): Show CCCCTCATGGGACGCCTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01255.hp2 HG01257.hp1 others(6): Show HG01074.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG02630.hp1 HG02970.hp2 HG03209.hp1 HG03225.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0020 a0001c0001 a0001c0002 a0001c0020	a0001c0001t0001 a0001c0002t0001 a0001c0020t0002 a0001c0001t0001 a0001c0002t0001 a0001c0020t0002	a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0020t0002g0000 a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0020t0002g0000	9	343	0.0262	19	c.-37 others(30): Show c.-3721_-3720insCCCTCATGGGACGCCTGTG	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		3696		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3175072	C C	CCCCTCAT others(12): Show CCCCTCATGGGATGCCTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00423.hp2 others(69): Show HG00140.hp1 HG00408.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00621.hp2 HG01069.hp2 HG01071.hp1 HG01123.hp2 HG01192.hp1 HG01256.hp2 HG01261.hp1 HG01516.hp1 HG01517.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02273.hp2 HG02300.hp2 HG02523.hp2 HG02683.hp1 HG02738.hp1 HG03710.hp2 HG03942.hp1 HG04184.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18941.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18962.hp2 NA18963.hp1 NA18966.hp1 NA18978.hp2 NA18979.hp2 NA18998.hp1 NA18999.hp1 NA19003.hp2 NA19004.hp2 NA19007.hp2 NA19009.hp2 NA19064.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp1	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0001c0016 a0001c0019 others(2): Show a0001c0001 a0001c0016 a0001c0019 a0004c0008 a0007c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0016t0001 a0001c0019t0001 a0004c0008t0001 a0007c0009t0001	a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 others(5): Show a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 a0001c0001t0005g0000 a0001c0016t0001g0000 a0001c0019t0001g0000 a0004c0008t0001g0000 a0007c0009t0001g0000	72	406	0.1773	19	c.-37 others(30): Show c.-3721_-3720insCCCTCATGGGATGCCTGTG	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		3696		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3175284	C C	CCCCTCAC others(12): Show CCCCTCACGGGACGCCTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	416	0.0024	19	c.-35 others(30): Show c.-3509_-3508insCCCTCACGGGACGCCTGTG	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		3484		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3175400	C C	CCCCTCAT others(12): Show CCCCTCATGGGACGCCTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00423.hp2 HG00544.hp1 others(45): Show HG00140.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00621.hp2 HG01069.hp2 HG01071.hp1 HG01123.hp2 HG01192.hp1 HG01516.hp1 HG01517.hp1 HG01891.hp1 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG01981.hp2 HG02015.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02129.hp1 HG02132.hp1 HG02683.hp1 HG02738.hp1 HG03017.hp2 HG03710.hp2 HG03942.hp1 HG04184.hp1 NA18747.hp1 NA18747.hp2 NA18941.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp2 NA18951.hp2 NA18959.hp1 NA18960.hp1 NA18966.hp1 NA18979.hp2 NA18998.hp1 NA18999.hp1 NA19003.hp2 NA19007.hp2 NA19009.hp2 NA19064.hp1 NA19081.hp2 NA19084.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0016 a0001c0019 others(1): Show a0001c0001 a0001c0016 a0001c0019 a0004c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0016t0001 a0001c0019t0001 a0004c0008t0001	a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 others(4): Show a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 a0001c0001t0005g0000 a0001c0016t0001g0000 a0001c0019t0001g0000 a0004c0008t0001g0000	48	415	0.1157	19	c.-33 others(30): Show c.-3393_-3392insCCCTCATGGGACGCCTGTG	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		3368		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3175413	A A	ACCTGTGC others(12): Show ACCTGTGCCCTCATGGGACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01255.hp2 HG01257.hp1 others(7): Show HG01074.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG02630.hp1 HG02970.hp2 HG03209.hp1 HG03225.hp2 HG03831.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0020 a0001c0001 a0001c0002 a0001c0020	a0001c0001t0001 a0001c0002t0001 a0001c0020t0002 a0001c0001t0001 a0001c0002t0001 a0001c0020t0002	a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0020t0002g0000 a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0020t0002g0000	10	341	0.0293	19	c.-33 others(30): Show c.-3380_-3379insCCTGTGCCCTCATGGGACG	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		3355		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3175767	C C	CCTCATGG others(12): Show CCTCATGGGATGCCTGTGTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01255.hp2 HG01257.hp1 others(8): Show HG01074.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG02630.hp1 HG02970.hp2 HG03209.hp1 HG03225.hp2 HG03831.hp2 HG06807.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0020 a0001c0001 a0001c0002 a0001c0020	a0001c0001t0001 a0001c0002t0001 a0001c0020t0002 a0001c0001t0001 a0001c0002t0001 a0001c0020t0002	a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0020t0002g0000 a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0020t0002g0000	11	415	0.0265	19	c.-30 others(30): Show c.-3026_-3025insCTCATGGGATGCCTGTGTT	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		3001		chr19	TogoVar
SAA4_chr11_18226355_18241802	18240707	A A	AACAACAA others(12): Show AACAACAACGGAGGAGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	416	0.0024	19	c.-39 others(30): Show c.-3996_-3995insCCTCCTCCTCCGTTGTTGT	SAA4	ENSG00000148965.10	transcript	ENST00000278222.7	protein_coding		3906		chr11	TogoVar
SAAL1_chr11_18075292_18111082	18076627	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0039 a0003c0003t0001g0039	1	280	0.0036	19	c.37 others(30): Show c.3771_*3772insCTTTCTTTCTTTCTTTCTT	SAAL1	ENSG00000166788.10	transcript	ENST00000524803.6	protein_coding		3664		chr11	TogoVar
SAC3D1_chr11_65036210_65049828	65039029	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02486.hp1 HG02896.hp2 others(3): Show HG01243.hp1 HG02486.hp1 HG02896.hp2 HG03098.hp2 HG03516.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0011 a0001c0002t0001g0020 a0001c0002t0001g0021 others(2): Show a0001c0002t0001g0011 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0037 a0001c0002t0001g0041	6	177	0.0339	19	c.-22 others(30): Show c.-2264_-2263insTTTTTTTTTTTTTTTTTTT	SAC3D1	ENSG00000168061.17	transcript	ENST00000652489.1	protein_coding		2180		chr11	TogoVar
SACM1L_chr3_45684396_45750409	45686664	T T	TATATATA others(12): Show TATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0016 a0001c0002t0002g0016	1	338	0.0030	19	c.-28 others(30): Show c.-2802_-2801insATATATATATATATATATA	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2731		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45731496	A A	AGATCAAA others(12): Show AGATCAAAGCATGATATTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0193 a0002c0001t0001g0193	1	352	0.0028	19	c.100 others(36): Show c.1001+118_1001+136dupATCAAAGCATGATATTTTG	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
SACS_chr13_23323830_23438702	23399019	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18999.hp2 NA19067.hp1 NA18957.hp2 NA18999.hp2 NA19067.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0111 a0002c0001t0001g0120 a0002c0001t0001g0135 a0002c0001t0001g0111 a0002c0001t0001g0120 a0002c0001t0001g0135	3	123	0.0244	19	c.20+ others(36): Show c.20+12200_20+12201insTTTTTTTTTTTTTTTTTTT	SACS	ENSG00000151835.17	transcript	ENST00000382292.9	protein_coding	2/9			chr13	TogoVar
SACS_chr13_23323830_23438702	23409040	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01978.hp2 HG01517.hp2 HG01978.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0011 a0002c0001t0001 a0001c0002t0011 a0002c0001t0001	a0001c0002t0011g0318 a0002c0001t0001g0317 a0001c0002t0011g0318 a0002c0001t0001g0317	2	9	0.2222	19	c.20+ others(34): Show c.20+2161_20+2179dupAAAAAAAAAAAAAAAAAAA	SACS	ENSG00000151835.17	transcript	ENST00000382292.9	protein_coding	2/9			chr13	TogoVar
SAE1_chr19_47125835_47215636	47214323	C C	CCCCGTCT others(12): Show CCCCGTCTCTACTGAAAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0374 a0001c0001t0001g0374	1	378	0.0026	19	c.50 others(30): Show c.5072_*5073insCCCGTCTCTACTGAAAATA	SAE1	ENSG00000142230.13	transcript	ENST00000270225.12	protein_coding		3688		chr19	TogoVar
SALL1_chr16_51130982_51156270	51147809	A A	ACACACAC others(12): Show ACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0094 a0001c0001t0004g0094	1	372	0.0027	19	c.76+ others(34): Show c.76+3356_76+3357insGTGTGTGTGTGTGTGTGTG	SALL1	ENSG00000103449.13	transcript	ENST00000251020.9	protein_coding	1/2			chr16	TogoVar
SALL4_chr20_51777331_51807521	51780070	G G	GATTACAG others(12): Show GATTACAGGCATGCACCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	382	0.0026	19	c.41 others(30): Show c.4194_*4195insGGAGGTGCATGCCTGTAAT	SALL4	ENSG00000101115.13	transcript	ENST00000217086.9	protein_coding		2260		chr20	TogoVar
SAMD10_chr20_63969116_63984642	63971411	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG02109.hp1 HG02738.hp2 others(2): Show HG01361.hp1 HG02109.hp1 HG02738.hp2 HG03195.hp1 HG03942.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 a0001c0002 a0001c0003 a0001c0004	a0001c0002t0007 a0001c0003t0005 a0001c0004t0005 a0001c0002t0007 a0001c0003t0005 a0001c0004t0005	a0001c0002t0007g0017 a0001c0002t0007g0049 a0001c0002t0007g0051 others(2): Show a0001c0002t0007g0017 a0001c0002t0007g0049 a0001c0002t0007g0051 a0001c0003t0005g0042 a0001c0004t0005g0037	5	190	0.0263	19	c.40 others(30): Show c.4098_*4099insAAAAAAAAAAAAAAAAAAA	SAMD10	ENSG00000130590.14	transcript	ENST00000369886.8	protein_coding		2704		chr20	TogoVar
SAMD4A_chr14_54562128_54798312	54675367	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02109.hp2 HG02165.hp1 others(4): Show HG00609.hp2 HG02109.hp2 HG02165.hp1 HG02257.hp2 NA18944.hp1 NA19066.hp2 NA19074.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0018 others(1): Show a0001c0001 a0001c0006 a0001c0018 a0002c0003	a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 others(4): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 a0001c0001t0067 a0001c0006t0004 a0001c0018t0084 a0002c0003t0001	a0001c0001t0001g0055 a0001c0001t0007g0073 a0001c0001t0011g0157 others(4): Show a0001c0001t0001g0055 a0001c0001t0007g0073 a0001c0001t0011g0157 a0001c0001t0067g0144 a0001c0006t0004g0069 a0001c0018t0084g0001 a0002c0003t0001g0044	7	77	0.0909	19	c.197 others(38): Show c.197-26693_197-26675dupAAAAAAAAAAAAAAAAAAA	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMD4A_chr14_54562128_54798312	54724007	T T	TGGAAGGA others(12): Show TGGAAGGAAGGAAGGAAGAA	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG04199.hp2 HG04228.hp2 others(2): Show HG03492.hp1 HG04199.hp2 HG04228.hp2 NA18968.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 a0001c0002t0005	a0001c0001t0001g0097 a0001c0001t0001g0109 a0001c0001t0002g0128 others(2): Show a0001c0001t0001g0097 a0001c0001t0001g0109 a0001c0001t0002g0128 a0001c0001t0020g0048 a0001c0002t0005g0257	5	66	0.0758	19	c.716 others(38): Show c.716-13000_716-12999insAAGGAAGGAAGGAAGGAAG	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMD4A_chr14_54562128_54798312	54727166	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0073 a0001c0001t0073	a0001c0001t0073g0134 a0001c0001t0073g0134	1	21	0.0476	19	c.716 others(36): Show c.716-9835_716-9817dupTTTTTTTTTTTTTTTTTTT	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMD4A_chr14_54562128_54798312	54739055	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0089 a0001c0001t0058g0089	1	18	0.0556	19	c.979 others(36): Show c.979+1769_979+1787dupTTTTTTTTTTTTTTTTTTT	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMD5_chr6_147503690_147575021	147570644	T T	TTTTTAAT others(12): Show TTTTTAATCAAATCATTTAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00733.hp2 HG01891.hp1 others(25): Show HG00140.hp2 HG00733.hp2 HG01891.hp1 HG01975.hp2 HG02055.hp2 HG02132.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02723.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG03098.hp1 HG03139.hp2 HG03453.hp2 HG03486.hp1 HG03516.hp1 HG03579.hp1 NA18522.hp1 NA19030.hp2 NA19240.hp2 NA20129.hp2 NA20752.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0003c0004 others(1): Show a0001c0001 a0001c0002 a0003c0004 a0004c0005	a0001c0001t0016 a0001c0001t0020 a0001c0001t0027 others(17): Show a0001c0001t0016 a0001c0001t0020 a0001c0001t0027 a0001c0001t0028 a0001c0001t0095 a0001c0001t0097 a0001c0001t0099 a0001c0001t0100 a0001c0001t0105 a0001c0001t0106 a0001c0001t0113 a0001c0002t0022 a0001c0002t0026 a0001c0002t0054 a0001c0002t0059 a0001c0002t0067 a0001c0002t0068 a0003c0004t0016 a0003c0004t0020 a0004c0005t0034	a0001c0001t0016g0226 a0001c0001t0016g0246 a0001c0001t0020g0152 others(25): Show a0001c0001t0016g0226 a0001c0001t0016g0246 a0001c0001t0020g0152 a0001c0001t0020g0192 a0001c0001t0027g0036 a0001c0001t0027g0245 a0001c0001t0028g0253 a0001c0001t0028g0297 a0001c0001t0095g0074 a0001c0001t0097g0065 a0001c0001t0099g0062 a0001c0001t0100g0227 a0001c0001t0105g0194 a0001c0001t0106g0058 a0001c0001t0113g0151 a0001c0002t0022g0086 a0001c0002t0022g0167 a0001c0002t0026g0087 a0001c0002t0026g0343 a0001c0002t0054g0154 a0001c0002t0059g0079 a0001c0002t0067g0175 a0001c0002t0068g0067 a0003c0004t0016g0071 a0003c0004t0016g0072 a0003c0004t0020g0077 a0004c0005t0034g0046 a0004c0005t0034g0047	28	362	0.0773	19	c.61 others(30): Show c.6188_*6189insTTTTAATCAAATCATTTAA	SAMD5	ENSG00000203727.4	transcript	ENST00000367474.2	protein_coding		624		chr6	TogoVar
SAMD7_chr3_169906572_169944175	169910887	C C	CCACTGCT others(12): Show CCACTGCTTTATGAACAATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0065 a0001c0004t0003g0065	1	414	0.0024	19	c.-10 others(30): Show c.-1051_-1050insCACTGCTTTATGAACAATA	SAMD7	ENSG00000187033.9	transcript	ENST00000335556.7	protein_coding		684		chr3	TogoVar
SAMD8_chr10_75106656_75187123	75109818	T T	TTTTTGTT others(12): Show TTTTTGTTTTGTTTTGTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 NA19054.hp1 HG02165.hp2 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0195 a0001c0001t0002g0196	2	148	0.0135	19	c.-19 others(30): Show c.-1920_-1919insTTTTGTTTTGTTTTGTTTG	SAMD8	ENSG00000156671.15	transcript	ENST00000542569.6	protein_coding		1837		chr10	TogoVar
SAMD8_chr10_75106656_75187123	75148346	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02723.hp1 HG02897.hp2 others(1): Show HG02257.hp2 HG02723.hp1 HG02897.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0013 a0001c0001t0027 a0001c0001t0003 a0001c0001t0013 a0001c0001t0027	a0001c0001t0003g0140 a0001c0001t0003g0142 a0001c0001t0013g0305 others(1): Show a0001c0001t0003g0140 a0001c0001t0003g0142 a0001c0001t0013g0305 a0001c0001t0027g0138	4	67	0.0597	19	c.-15 others(36): Show c.-15-2161_-15-2143dupTTTTTTTTTTTTTTTTTTT	SAMD8	ENSG00000156671.15	transcript	ENST00000542569.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr10	TogoVar
SAMM50_chr22_43950442_44001529	43962881	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0241 a0002c0001t0001g0241	1	131	0.0076	19	c.22- others(32): Show c.22-390_22-372dupTTTTTTTTTTTTTTTTTTT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SANBR_chr2_61060871_61129280	61072821	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0212 a0001c0002t0001g0212	1	82	0.0122	19	c.338 others(34): Show c.338-626_338-608dupTTTTTTTTTTTTTTTTTTT	SANBR	ENSG00000162929.14	transcript	ENST00000402291.6	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr2	TogoVar
SAP130_chr2_127936222_128033059	127947801	T T	TGTGTGTG others(12): Show TGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	346	0.0029	19	c.279 others(38): Show c.2797+2067_2797+2068insCACACACACACACACACAC	SAP130	ENSG00000136715.19	transcript	ENST00000643581.2	protein_coding	18/20			chr2	TogoVar
SAP130_chr2_127936222_128033059	128003957	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0073 a0001c0006t0001g0073	1	74	0.0135	19	c.870 others(36): Show c.870-3522_870-3504dupAAAAAAAAAAAAAAAAAAA	SAP130	ENSG00000136715.19	transcript	ENST00000643581.2	protein_coding	7/20			chr2	TogoVar
SAP30L_chr5_154440997_154466053	154462753	C C	CGTTTACT others(12): Show CGTTTACTGCAGCAGGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	456	0.0022	19	c.67 others(30): Show c.6725_*6726insGTTTACTGCAGCAGGGGGT	SAP30L	ENSG00000164576.12	transcript	ENST00000297109.11	protein_coding		1701		chr5	TogoVar
SAPCD2_chr9_137057127_137075557	137070668	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0025 a0001c0001t0016g0025	1	4	0.2500	19	c.-20 others(28): Show c.-209_-208insAAAAAAAAAAAAAAAAAAA	SAPCD2	ENSG00000186193.9	transcript	ENST00000409687.5	protein_coding		112		chr9	TogoVar
SAR1B_chr5_134596149_134637828	134612641	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	11	0.0909	19	c.244 others(32): Show c.244+31_244+49dupTTTTTTTTTTTTTTTTTTT	SAR1B	ENSG00000152700.14	transcript	ENST00000402673.7	protein_coding	4/6			chr5	TogoVar
SARAF_chr8_30058003_30088064	30064561	A A	ATATATAT others(12): Show ATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0186 a0001c0001t0002g0186	1	13	0.0769	19	c.995 others(34): Show c.995-649_995-648insAAAAAAAAAAAAATATATA	SARAF	ENSG00000133872.14	transcript	ENST00000256255.11	protein_coding	5/5			chr8	TogoVar
SARDH_chr9_133658560_133743352	133664563	A A	AGCTGGTG others(12): Show AGCTGGTGACGCCTGGCACT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19240.hp2 NA19043.hp1 NA19240.hp2	a0003 a0003	a0003c0032 a0003c0032	a0003c0032t0001 a0003c0032t0001	a0003c0032t0001g0142 a0003c0032t0001g0155 a0003c0032t0001g0142 a0003c0032t0001g0155	2	260	0.0077	19	c.263 others(36): Show c.2632-568_2632-550dupAGTGCCAGGCGTCACCAGC	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	20/20			chr9	TogoVar
SARNP_chr12_55752270_55822724	55774558	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 NA20300.hp1 HG00733.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0078 a0001c0001t0001g0079	2	165	0.0121	19	c.502 others(38): Show c.502-13919_502-13918insTTTTTTTTTTTTTTTTTTT	SARNP	ENSG00000205323.9	transcript	ENST00000336133.8	protein_coding	9/10			chr12	TogoVar
SASH1_chr6_148337838_148557044	148446102	T T	TTTTTTTT others(12): Show TTTTTTTTTTCTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0318 a0001c0003t0005g0318	1	315	0.0032	19	c.386 others(36): Show c.386+5704_386+5705insCTTTTTTTTCTTTTTTTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148446103	T T	TTTTTTTT others(12): Show TTTTTTTTTTCTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01167.hp1 others(26): Show HG01069.hp2 HG01071.hp1 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01346.hp1 HG01358.hp2 HG01934.hp1 HG02257.hp1 HG02257.hp2 HG02683.hp1 HG02976.hp1 HG03239.hp1 HG03486.hp2 HG03654.hp1 HG03704.hp1 HG03942.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18946.hp2 NA18950.hp1 NA18957.hp2 NA18959.hp1 NA18978.hp1 NA19056.hp1 NA20805.hp1 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0003 a0001c0007 others(8): Show a0001c0001 a0001c0003 a0001c0007 a0001c0009 a0001c0013 a0002c0002 a0002c0004 a0002c0005 a0002c0010 a0003c0006 a0006c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0032 a0001c0003t0002 a0001c0003t0005 a0001c0007t0002 a0001c0007t0004 a0001c0007t0022 a0001c0009t0002 a0001c0013t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0002c0002t0028 a0002c0004t0011 a0002c0005t0006 a0002c0010t0003 a0003c0006t0001 a0006c0022t0002	a0001c0001t0001g0295 a0001c0001t0002g0025 a0001c0001t0002g0053 others(26): Show a0001c0001t0001g0295 a0001c0001t0002g0025 a0001c0001t0002g0053 a0001c0001t0002g0114 a0001c0001t0002g0143 a0001c0001t0005g0139 a0001c0001t0010g0260 a0001c0001t0032g0252 a0001c0003t0002g0204 a0001c0003t0005g0314 a0001c0007t0002g0223 a0001c0007t0004g0220 a0001c0007t0022g0233 a0001c0009t0002g0129 a0001c0013t0002g0201 a0002c0002t0003g0020 a0002c0002t0003g0320 a0002c0002t0004g0109 a0002c0002t0006g0138 a0002c0002t0028g0163 a0002c0004t0011g0273 a0002c0004t0011g0275 a0002c0005t0006g0113 a0002c0005t0006g0171 a0002c0010t0003g0017 a0002c0010t0003g0261 a0003c0006t0001g0056 a0003c0006t0001g0057 a0006c0022t0002g0028	29	309	0.0939	19	c.386 others(36): Show c.386+5705_386+5706insCTTTTTTTTCTTTTTTTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148446110	T T	TTTCTTTT others(12): Show TTTCTTTTTTTTCTTTTTTC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0014 a0001c0009t0014	a0001c0009t0014g0094 a0001c0009t0014g0094	1	320	0.0031	19	c.386 others(36): Show c.386+5705_386+5706insCTTTTTTTTCTTTTTTCTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148449078	C C	CTTTTTCT others(12): Show CTTTTTCTTTTTCTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00609.hp1 HG00639.hp1 others(12): Show HG00099.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG01516.hp2 HG02135.hp1 HG02523.hp2 HG03710.hp1 HG03942.hp1 HG04199.hp2 NA18977.hp2 NA18980.hp2 NA18990.hp2 NA19009.hp1 NA19060.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(5): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004 a0002c0010 a0002c0033 a0003c0008 a0003c0011	a0001c0001t0001 a0001c0001t0030 a0001c0003t0001 others(11): Show a0001c0001t0001 a0001c0001t0030 a0001c0003t0001 a0001c0003t0002 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0004t0004 a0002c0004t0031 a0002c0010t0003 a0002c0033t0001 a0003c0008t0003 a0003c0011t0001 a0003c0011t0002	a0001c0001t0001g0050 a0001c0001t0030g0043 a0001c0003t0001g0047 others(12): Show a0001c0001t0001g0050 a0001c0001t0030g0043 a0001c0003t0001g0047 a0001c0003t0002g0092 a0002c0002t0001g0030 a0002c0002t0003g0198 a0002c0002t0004g0049 a0002c0002t0004g0203 a0002c0004t0004g0132 a0002c0004t0031g0259 a0002c0010t0003g0150 a0002c0033t0001g0051 a0003c0008t0003g0066 a0003c0011t0001g0080 a0003c0011t0002g0083	15	132	0.1136	19	c.386 others(36): Show c.386+8676_386+8677insCTTTTTCTTTTTTTTTTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148449078	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0014 a0002c0002t0002g0014	1	118	0.0085	19	c.386 others(36): Show c.386+8686_386+8687insTTTTTTTTTTTTTTTTTTT	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(12): Show ATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0006 a0002c0005t0006	a0002c0005t0006g0013 a0002c0005t0006g0013	1	57	0.0175	19	c.121 others(38): Show c.1210-1169_1210-1168insATATATATATATATATTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH3_chrX_129774949_129800201	129789105	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA19057.hp1 NA18989.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0095 a0001c0001t0002g0002 a0001c0001t0001g0095 a0001c0001t0002g0002	2	210	0.0095	19	c.300 others(34): Show c.300+530_300+531insGAAAGAAAGAAAGAAAGAA	SASH3	ENSG00000122122.10	transcript	ENST00000356892.4	protein_coding	3/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
SASH3_chrX_129774949_129800201	129789109	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	92	0.0109	19	c.300 others(34): Show c.300+534_300+535insGAAAGAAAGAAAGAAAGAA	SASH3	ENSG00000122122.10	transcript	ENST00000356892.4	protein_coding	3/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
SASH3_chrX_129774949_129800201	129789162	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	305	0.0033	19	c.300 others(34): Show c.300+589_300+590insAAGAAAGAAAGAAAGAAGA	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(12): Show ATTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 NA18968.hp2 HG02145.hp1 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0020 a0001c0001t0007 a0001c0001t0020	a0001c0001t0007g0092 a0001c0001t0020g0035 a0001c0001t0007g0092 a0001c0001t0020g0035	2	64	0.0313	19	c.47 others(30): Show c.4793_*4811dupAAAAAAAAAAAAAAAAAAA	SATB1	ENSG00000182568.18	transcript	ENST00000338745.11	protein_coding		1018		chr3	TogoVar
SATL1_chrX_85087284_85248779	85118087	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	134	0.0075	19	c.-31 others(38): Show c.-312-8808_-312-8807insAAAAAAAAAAAAAAAAAAA	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding	2/7			chrX	TogoVar
SAXO1_chr9_18922650_19038209	18925501	T T	TGTTTTGT others(12): Show TGTTTTGTTTTGTTTTTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0198 a0001c0001t0009g0198	1	362	0.0028	19	c.25 others(30): Show c.2532_*2550dupCACAAAAACAAAACAAAAC	SAXO1	ENSG00000155875.15	transcript	ENST00000380534.9	protein_coding		2148		chr9	TogoVar
SAYSD1_chr6_39099063_39120186	39117396	T T	TGGTTTGT others(12): Show TGGTTTGTAAGAGAAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	458	0.0022	19	c.-23 others(30): Show c.-2308_-2307insTTCTTTTCTCTTACAAACC	SAYSD1	ENSG00000112167.11	transcript	ENST00000229903.5	protein_coding		2211		chr6	TogoVar
SBF2_chr11_9773668_10299219	10063881	A A	AGAGAGAG others(12): Show AGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	221	0.0045	19	c.142 others(38): Show c.142-20901_142-20900insCTCTCTCTCTCTCTCTCTC	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	2/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10211014	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG03669.hp1 HG00323.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0048 a0001c0001t0004g0003 a0001c0001t0001g0048 a0001c0001t0004g0003	2	6	0.3333	19	c.56- others(36): Show c.56-17046_56-17028dupTTTTTTTTTTTTTTTTTTT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar

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