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
SFXN5_chr2_72937036_73076712	73047245	A A	AAAATATA others(27): Show AAAATATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	102	0.0098	34	c.172 others(51): Show c.172-6315_172-6314insGTGTGTGTATATATATATATATATATAT ATATTT	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SFXN5_chr2_72937036_73076712	73050388	G G	GCGCGCAC others(27): Show GCGCGCACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0074 a0001c0002t0004g0074	1	71	0.0141	34	c.171 others(51): Show c.171+8139_171+8140insTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGCGCG	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SFXN5_chr2_72937036_73076712	73050420	A A	ACACACAC others(27): Show ACACACACACACACACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0032 a0001c0002t0002g0032	1	239	0.0042	34	c.171 others(51): Show c.171+8107_171+8108insGGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTG	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SGCD_chr5_156322164_156772788	156350247	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01261.hp1 HG02970.hp2 others(2): Show HG01258.hp1 HG01261.hp1 HG02970.hp2 HG03225.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0033 a0001c0002t0004 a0001c0002t0013 others(2): Show a0001c0001t0033 a0001c0002t0004 a0001c0002t0013 a0001c0002t0024 a0001c0002t0057	a0001c0001t0033g0141 a0001c0002t0004g0114 a0001c0002t0013g0030 others(2): Show a0001c0001t0033g0141 a0001c0002t0004g0114 a0001c0002t0013g0030 a0001c0002t0024g0100 a0001c0002t0057g0110	5	77	0.0649	34	c.192 others(51): Show c.192+5587_192+5588insATATATATATATATATATATATATATAT ATATAT	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCD_chr5_156322164_156772788	156423349	A A	ATTATAAT others(27): Show ATTATAATATAATATATTTTATTATAATATAATAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0049 a0001c0001t0009g0049	1	107	0.0093	34	c.192 others(53): Show c.192+78672_192+78673insTTATAATATAATATATTTTATTATAA TATAATAT	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8			chr5	TogoVar
SGCZ_chr8_14079845_15243431	14439310	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0088 a0001c0001t0088	a0001c0001t0088g0054 a0001c0001t0088g0054	1	54	0.0185	34	c.235 others(55): Show c.235-115107_235-115106insATATATATATATATATATATATAT ATATATATAT	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	2/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14440704	T T	CGTATATA others(27): Show CGTATATACATACGTATACACGTATATGTATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0009 a0001c0001t0041g0009	1	102	0.0098	34	c.234 others(55): Show c.234+114028_234+114029insTATATACATATACGTGTATACGTA TGTATATACG	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	2/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14551524	A A	AATATATA others(27): Show AATATATATTATATATATTATATATATTATATATT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02717.hp2 HG06807.hp2 HG02630.hp2 HG02717.hp2 HG06807.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0033 a0001c0001t0073 a0003c0003t0043 a0001c0001t0033 a0001c0001t0073 a0003c0003t0043	a0001c0001t0033g0003 a0001c0001t0073g0053 a0003c0003t0043g0041 a0001c0001t0033g0003 a0001c0001t0073g0053 a0003c0003t0043g0041	3	98	0.0306	34	c.234 others(51): Show c.234+3207_234+3208insAATATATAATATATATAATATATATAAT ATATAT	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	2/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	15061182	G G	GAGGGGGG others(27): Show GAGGGGGGAACATTTCAGAGGTGATTAAGTCATGA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02886.hp2 NA19240.hp2 HG02004.hp2 HG02886.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0050 a0001c0001t0056 a0001c0001t0039 a0001c0001t0050 a0001c0001t0056	a0001c0001t0039g0036 a0001c0001t0050g0045 a0001c0001t0056g0062 a0001c0001t0039g0036 a0001c0001t0050g0045 a0001c0001t0056g0062	3	102	0.0294	34	c.39+ others(53): Show c.39+176369_39+176402dupTCATGACTTAATCACCTCTGAAATGT TCCCCCCT	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGF29_chr16_28548920_28596790	28564717	G G	GTATATAT others(27): Show GTATATATATGTATATATATATACATATATATGTA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01515.hp1 HG01256.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0068 a0001c0001t0002g0064 a0001c0001t0002g0068	2	291	0.0069	34	c.-16 others(53): Show c.-16+10629_-16+10630insGTATATATATATACATATATATGTAT ATATATAT	SGF29	ENSG00000176476.9	transcript	ENST00000317058.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
SGF29_chr16_28548920_28596790	28564777	A A	ATATATAC others(27): Show ATATATACATATATATGTATATATGTATATATATG	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02523.hp2 HG03669.hp2 others(3): Show HG02135.hp1 HG02523.hp2 HG03669.hp2 NA18941.hp1 NA18964.hp2 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0074 others(3): Show a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0074 a0001c0001t0002g0091 a0001c0001t0002g0102 a0001c0001t0002g0103	6	288	0.0208	34	c.-16 others(53): Show c.-16+10686_-16+10687insCATATATATGTATATATGTATATATA TGTATATA	SGF29	ENSG00000176476.9	transcript	ENST00000317058.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
SGK1_chr6_134164256_134323112	134232413	G G	GAAAAGAA others(27): Show GAAAAGAAAGAAAGAGAGAGAGAGAGAGAGAAGAA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	63	0.0159	34	c.286 others(53): Show c.286-24983_286-24982insTTCTTCTCTCTCTCTCTCTCTCTTTC TTTCTTTT	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	2/13			chr6	TogoVar
SGK3_chr8_66707781_66867022	66720781	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0057 a0001c0002t0006g0057	1	76	0.0132	34	c.-12 others(53): Show c.-122+7962_-122+7963insTATATATATATATATATATATATATA TATATATA	SGK3	ENSG00000104205.16	transcript	ENST00000521198.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
SGMS1_chr10_50300600_50628956	50365255	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0145 a0001c0002t0001g0145	1	117	0.0085	34	c.-23 others(55): Show c.-231-20911_-231-20910insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	SGMS1	ENSG00000198964.14	transcript	ENST00000361781.7	protein_coding	6/10			chr10	TogoVar
SGMS1_chr10_50300600_50628956	50574961	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0275 a0001c0002t0002g0275	1	251	0.0040	34	c.-58 others(55): Show c.-589+15191_-589+15192insTATATATATATATATATATATATA TATATATATA	SGMS1	ENSG00000198964.14	transcript	ENST00000361781.7	protein_coding	2/10			chr10	TogoVar
SGMS1_chr10_50300600_50628956	50574963	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	22	0.0455	34	c.-58 others(55): Show c.-589+15189_-589+15190insTATATATATATATATATATATATA TATATATATA	SGMS1	ENSG00000198964.14	transcript	ENST00000361781.7	protein_coding	2/10			chr10	TogoVar
SGMS1_chr10_50300600_50628956	50574963	G G	GTATATAT others(27): Show GTATATATATATATATGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01257.hp1 HG01168.hp2 HG01257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0005 a0001c0002t0003 a0001c0002t0005	a0001c0002t0003g0233 a0001c0002t0005g0232 a0001c0002t0003g0233 a0001c0002t0005g0232	2	23	0.0870	34	c.-58 others(55): Show c.-589+15189_-589+15190insTATATATATATATATACACATATA TATATATATA	SGMS1	ENSG00000198964.14	transcript	ENST00000361781.7	protein_coding	2/10			chr10	TogoVar
SGO2_chr2_200521207_200589096	200522317	A A	ATTCTTTC others(27): Show ATTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0115 a0001c0003t0002g0115	1	100	0.0100	34	c.-39 others(45): Show c.-3938_-3937insTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCT	SGO2	ENSG00000163535.18	transcript	ENST00000357799.9	protein_coding		3889		chr2	TogoVar
SGSM2_chr17_2332501_2386054	2338774	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02083.hp2 NA19030.hp1 others(2): Show HG02027.hp2 HG02083.hp2 NA19030.hp1 NA19086.hp1 NA20300.hp2	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0001 a0002c0046 a0012c0016 a0001c0001 a0002c0046 a0012c0016	a0001c0001t0001 a0002c0046t0020 a0012c0016t0003 a0001c0001t0001 a0002c0046t0020 a0012c0016t0003	a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 others(2): Show a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0002c0046t0020g0155 a0012c0016t0003g0156	5	170	0.0294	34	c.57+ others(49): Show c.57+1044_57+1045insTATATATATATATATATATATATATATATA TATA	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM2_chr17_2332501_2386054	2338784	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18994.hp1 NA18971.hp2 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0148 a0001c0001t0001g0149	2	420	0.0048	34	c.57+ others(49): Show c.57+1044_57+1045insTATATATATATATATATATATATATATACA TATA	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SH2D1A_chrX_124341563_124378160	124350231	T T	TTATATAA others(27): Show TTATATAATATTATATAATATATAAATATATATTA	intron_variant intron_variant	MODIFIER	HG03704.hp1 NA19070.hp1 HG03704.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0257 a0001c0001t0001g0035 a0001c0001t0001g0257	2	312	0.0064	34	c.137 others(51): Show c.137+3476_137+3477insATATATATTATATATAATATTATATAAT ATATAA	SH2D1A	ENSG00000183918.18	transcript	ENST00000371139.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chrX	TogoVar
SH2D2A_chr1_156801243_156821848	156817047	T T	TTCTCTCT others(27): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	62	0.0161	34	c.-34 others(43): Show c.-340_-339insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	SH2D2A	ENSG00000027869.12	transcript	ENST00000368199.8	protein_coding		200		chr1	TogoVar
SH2D4B_chr10_80532902_80651560	80560967	T T	TCAATGAT others(27): Show TCAATGATGGTTTCATTCCTTGGTGAAACAGTAAA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0055 a0003c0003t0001g0055	1	320	0.0031	34	c.185 others(51): Show c.185-9185_185-9152dupAATGATGGTTTCATTCCTTGGTGAAACA GTAAAC	SH2D4B	ENSG00000178217.15	transcript	ENST00000646907.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
SH2D7_chr15_78087561_78109362	78089517	G G	GTTTTTTT others(27): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0071 a0002c0002t0001g0071	1	254	0.0039	34	c.-30 others(45): Show c.-3068_-3067insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SH2D7	ENSG00000183476.13	transcript	ENST00000328828.6	protein_coding		3043		chr15	TogoVar
SH3BP5_chr3_15249353_15337586	15265512	T T	TCACACAC others(27): Show TCACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19090.hp1 NA19002.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0285 a0001c0001t0002g0049 a0001c0001t0001g0285 a0001c0001t0002g0049	2	23	0.0870	34	c.496 others(51): Show c.496-3257_496-3224dupTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTG	SH3BP5	ENSG00000131370.16	transcript	ENST00000383791.8	protein_coding	4/8			chr3	TogoVar
SH3BP5_chr3_15249353_15337586	15272534	C C	CATTACAA others(27): Show CATTACAAAACAGAGTGCCCGTAGGATAAAGACAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG03239.hp1 HG03710.hp1 others(4): Show HG00621.hp2 HG03239.hp1 HG03710.hp1 NA18747.hp2 NA18956.hp2 NA19001.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0173 a0001c0001t0001g0276 a0001c0001t0001g0315 others(4): Show a0001c0001t0001g0173 a0001c0001t0001g0276 a0001c0001t0001g0315 a0001c0001t0001g0318 a0001c0001t0002g0017 a0001c0002t0001g0233 a0001c0002t0001g0307	7	325	0.0215	34	c.331 others(51): Show c.331-2658_331-2657insATGTCTTTATCCTACGGGCACTCTGTTT TGTAAT	SH3BP5	ENSG00000131370.16	transcript	ENST00000383791.8	protein_coding	3/8			chr3	TogoVar
SH3BP5_chr3_15249353_15337586	15272566	C C	CATTACAA others(27): Show CATTACAAAACAGAGTGCCTGTAGGATAAAGACAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0262 a0001c0002t0001g0262	1	362	0.0028	34	c.331 others(51): Show c.331-2723_331-2690dupATGTCTTTATCCTACAGGCACTCTGTTT TGTAAT	SH3BP5	ENSG00000131370.16	transcript	ENST00000383791.8	protein_coding	3/8			chr3	TogoVar
SH3D21_chr1_36301368_36326347	36313972	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02004.hp1 NA18979.hp2 HG02004.hp1 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0152 a0001c0002t0001g0127 a0001c0001t0001g0152 a0001c0002t0001g0127	2	33	0.0606	34	c.769 others(51): Show c.769+4402_769+4403insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SH3D21	ENSG00000214193.11	transcript	ENST00000453908.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SH3GLB1_chr1_86699576_86753184	86724892	A A	AAAAAAAA others(27): Show AAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0103 a0001c0001t0005g0103	1	102	0.0098	34	c.570 others(49): Show c.570+488_570+489insAAAAAATATATATATATATATATATATATA TATA	SH3GLB1	ENSG00000097033.15	transcript	ENST00000370558.8	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SH3PXD2A_chr10_103589027_103860576	103801542	T T	TACACACA others(27): Show TACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02559.hp1 HG02818.hp2 others(6): Show HG01978.hp1 HG02559.hp1 HG02818.hp2 HG03139.hp1 HG03195.hp2 NA18954.hp2 NA18975.hp2 NA19009.hp1 NA19067.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0002c0006	a0001c0001t0022 a0001c0002t0002 a0001c0002t0036 others(5): Show a0001c0001t0022 a0001c0002t0002 a0001c0002t0036 a0001c0003t0034 a0001c0009t0039 a0001c0009t0089 a0001c0009t0090 a0002c0006t0096	a0001c0001t0022g0100 a0001c0002t0002g0006 a0001c0002t0002g0037 others(6): Show a0001c0001t0022g0100 a0001c0002t0002g0006 a0001c0002t0002g0037 a0001c0002t0036g0018 a0001c0003t0034g0033 a0001c0009t0039g0113 a0001c0009t0089g0222 a0001c0009t0090g0095 a0002c0006t0096g0197	9	26	0.3462	34	c.73- others(47): Show c.73-181_73-180insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	1/14			chr10	TogoVar
SH3PXD2B_chr5_172328499_172459525	172368496	T T	TTATATAT others(27): Show TTATATATATATATATATAAAATATATATATATTA	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18966.hp2 NA19090.hp1 NA18960.hp2 NA18966.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0020 a0001c0001t0003 a0001c0003t0020	a0001c0001t0003g0227 a0001c0003t0020g0224 a0001c0003t0020g0228 a0001c0001t0003g0227 a0001c0003t0020g0224 a0001c0003t0020g0228	3	241	0.0124	34	c.427 others(51): Show c.427+5293_427+5294insTAATATATATATATTTTATATATATATA TATATA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	6/12			chr5	TogoVar
SH3RF3_chr2_109124205_109509634	109458572	C C	CAGAGAGA others(27): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp2 HG01243.hp1 others(10): Show HG01099.hp1 HG01099.hp2 HG01243.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01981.hp1 HG02027.hp1 HG03225.hp1 HG03471.hp2 NA18970.hp2 NA18983.hp1 NA19011.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0010 a0001c0015 others(1): Show a0001c0001 a0001c0010 a0001c0015 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0015 a0001c0001t0041 a0001c0010t0026 a0001c0015t0011 a0002c0002t0001	a0001c0001t0001g0037 a0001c0001t0001g0155 a0001c0001t0002g0084 others(10): Show a0001c0001t0001g0037 a0001c0001t0001g0155 a0001c0001t0002g0084 a0001c0001t0002g0099 a0001c0001t0002g0114 a0001c0001t0002g0123 a0001c0001t0003g0072 a0001c0001t0005g0024 a0001c0001t0015g0125 a0001c0001t0041g0050 a0001c0010t0026g0017 a0001c0015t0011g0115 a0002c0002t0001g0156	13	62	0.2097	34	c.214 others(53): Show c.2148+9112_2148+9113insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGA	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SHANK1_chr19_50654255_50724802	50665737	T T	TAAAAAAA others(27): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0005 a0001c0040t0005	a0001c0040t0005g0207 a0001c0040t0005g0207	1	88	0.0114	34	c.576 others(51): Show c.5768+454_5768+455insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	23/23			chr19	TogoVar
SHANK1_chr19_50654255_50724802	50692456	G G	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01168.hp2 HG01169.hp2 others(2): Show HG01081.hp2 HG01168.hp2 HG01169.hp2 HG03654.hp1 NA19074.hp2	a0001 a0002 a0016 a0001 a0002 a0016	a0001c0002 a0002c0001 a0016c0029 a0001c0002 a0002c0001 a0016c0029	a0001c0002t0001 a0001c0002t0040 a0002c0001t0013 others(1): Show a0001c0002t0001 a0001c0002t0040 a0002c0001t0013 a0016c0029t0001	a0001c0002t0001g0097 a0001c0002t0001g0197 a0001c0002t0040g0010 others(2): Show a0001c0002t0001g0097 a0001c0002t0001g0197 a0001c0002t0040g0010 a0002c0001t0013g0256 a0016c0029t0001g0206	5	271	0.0185	34	c.196 others(53): Show c.1965-3178_1965-3177insATATATATATATATATATATATATAT ATATATAT	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	15/23			chr19	TogoVar
SHANK1_chr19_50654255_50724802	50692472	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0086 a0002c0001t0086	a0002c0001t0086g0149 a0002c0001t0086g0149	1	310	0.0032	34	c.196 others(53): Show c.1965-3194_1965-3193insGTATATATATATATATATATATATAT ATATATAT	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	15/23			chr19	TogoVar
SHC4_chr15_48818741_48968919	48907840	G G	GTGTGTAT others(27): Show GTGTGTATATATATATATGTGTGTGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA19001.hp2 HG00621.hp1 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0268 a0001c0001t0001g0176 a0001c0001t0001g0268	2	193	0.0104	34	c.657 others(53): Show c.657-17030_657-17029insTATACACACACACACACATATATATA TATACACA	SHC4	ENSG00000185634.12	transcript	ENST00000332408.9	protein_coding	2/11			chr15	TogoVar
SHCBP1L_chr1_182894865_182958166	182918177	T T	TACATATA others(27): Show TACATATATATACACATATATATACATATATATAC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0001 a0010c0012t0001	a0010c0012t0001g0174 a0010c0012t0001g0174	1	300	0.0033	34	c.118 others(55): Show c.1182+11436_1182+11469dupGTATATATATGTATATATATGTGT ATATATATGT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182924797	A A	AGAAAGAA others(27): Show AGAAAGAAAGAGAGAGAAAGAGAGAGAAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0113 a0001c0003t0001g0113	1	275	0.0036	34	c.118 others(53): Show c.1182+4849_1182+4850insCCTTCCTTTCTCTCTCTTTCTCTCTC TTTCTTTC	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHISA5_chr3_48462876_48509174	48485530	A A	AAATATAT others(27): Show AAATATATATATTATATATATAATATATTATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	288	0.0035	34	c.234 others(51): Show c.234-6307_234-6274dupATATATAATATATTATATATATAATATA TATATT	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5			chr3	TogoVar
SHISA6_chr17_11236213_11569063	11277280	T T	TCTCTCTC others(27): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCACACACA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0192 a0001c0002t0011g0192	1	82	0.0122	34	c.799 others(53): Show c.799+13755_799+13756insTCTCTCTCTCTCTCTCTCTCTCTCTC ACACACAC	SHISA6	ENSG00000188803.15	transcript	ENST00000441885.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHISA9_chr16_12896598_13245416	13015890	C C	CTTTCTTT others(27): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp2 HG01433.hp1 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0085 a0001c0001t0003 a0001c0001t0085	a0001c0001t0003g0180 a0001c0001t0085g0167 a0001c0001t0003g0180 a0001c0001t0085g0167	2	205	0.0098	34	c.691 others(53): Show c.691+99094_691+99095insCTTTCTTTCTTTCTTTTTCTTTCTTT CTTTCTTT	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISAL1_chr22_44238665_44317951	44261077	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00733.hp2 HG01168.hp1 others(10): Show HG00621.hp1 HG00733.hp2 HG01168.hp1 HG01169.hp2 HG02145.hp1 HG02572.hp1 HG03239.hp2 HG03491.hp1 HG06807.hp2 NA19000.hp1 NA19009.hp1 NA19088.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0008 a0001c0001t0015 others(6): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0015 a0001c0001t0020 a0001c0001t0080 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0014	a0001c0001t0001g0087 a0001c0001t0001g0349 a0001c0001t0008g0205 others(9): Show a0001c0001t0001g0087 a0001c0001t0001g0349 a0001c0001t0008g0205 a0001c0001t0015g0311 a0001c0001t0020g0156 a0001c0001t0080g0263 a0001c0002t0001g0173 a0001c0002t0002g0227 a0001c0002t0002g0364 a0001c0002t0003g0006 a0001c0002t0003g0206 a0001c0002t0014g0047	13	117	0.1111	34	c.600 others(53): Show c.600-11393_600-11392insTATATATATATATATATATATATATA TATATATA	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	4/4			chr22	TogoVar
SHLD3_chr5_65620027_65635928	65632360	C C	CTGGGGGG others(27): Show CTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0034 a0001c0001t0003g0034	1	404	0.0025	34	c.20 others(45): Show c.2020_*2021insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	SHLD3	ENSG00000253251.3	transcript	ENST00000510585.3	protein_coding		1433		chr5	TogoVar
SHOX2_chr3_158090905_158111420	158096911	T T	TATATATA others(27): Show TATATATATATATATATATATATGGCAAATATATG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0040 a0001c0001t0019g0040	1	377	0.0027	34	c.11 others(45): Show c.1115_*1116insCATATATTTGCCATATATATATATATATATATAT	SHOX2	ENSG00000168779.21	transcript	ENST00000483851.7	protein_coding	5/5	1115		chr3	TogoVar
SHOX2_chr3_158090905_158111420	158096954	A A	ATATATAT others(27): Show ATATATATATGGCAAATATATGATATATATATATG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0059 a0001c0001t0034g0059	1	26	0.0385	34	c.10 others(45): Show c.1072_*1073insCATATATATATATCATATATTTGCCATATATATA	SHOX2	ENSG00000168779.21	transcript	ENST00000483851.7	protein_coding	5/5	1072		chr3	TogoVar
SHOX_chrX_625791_656584	628105	G G	GTCCTCTG others(27): Show GTCCTCTGCCTCTCTTTGTCTCTGTGTCCCCTGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0082 a0001c0001t0082	a0001c0001t0082g0186 a0001c0001t0082g0186	1	80	0.0125	34	c.-27 others(45): Show c.-2793_-2792insTCCTCTGCCTCTCTTTGTCTCTGTGTCCCCTGTC	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		2685		chrX	TogoVar
SHPK_chr17_3603240_3641250	3635236	A A	AGGAAGGA others(27): Show AGGAAGGAAGGAAGGAAGGGAGGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02895.hp2 HG02897.hp1 HG02818.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0356 a0001c0001t0006g0357 a0001c0001t0006g0358 a0001c0001t0006g0356 a0001c0001t0006g0357 a0001c0001t0006g0358	3	362	0.0083	34	c.168 others(49): Show c.168+815_168+816insCTTCCTTCCTTCCCTCCCTTCCTTCCTTCC TTCC	SHPK	ENSG00000197417.9	transcript	ENST00000225519.5	protein_coding	1/6			chr17	TogoVar
SHQ1_chr3_72744277_72853445	72765530	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0206 a0002c0002t0008g0206	1	134	0.0075	34	c.118 others(55): Show c.1182-14695_1182-14694insATATATATATATATATATATATAT ATATATATAT	SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding	10/10			chr3	TogoVar
SHQ1_chr3_72744277_72853445	72765557	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0200 a0002c0002t0001g0200	1	97	0.0103	34	c.118 others(55): Show c.1182-14722_1182-14721insAAAAAAAAAATATATATATATATA TATATATATA	SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding	10/10			chr3	TogoVar
SHROOM3_chr4_76430229_76788253	76646225	A A	AATAAATA others(27): Show AATAAATAAATAAATAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0023 a0023	a0023c0039 a0023c0039	a0023c0039t0002 a0023c0039t0002	a0023c0039t0002g0065 a0023c0039t0002g0065	1	31	0.0323	34	c.324 others(53): Show c.324-63928_324-63927insAATAAATAAATAAATATATATATATA TATATATA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar

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