Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
SH3GL2_chr9_17574066_17802124	17645151	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0118 a0001c0001t0002g0118	1	7	0.1429	27	c.45+ others(44): Show c.45+65869_45+65895dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	SH3GL2	ENSG00000107295.10	transcript	ENST00000380607.5	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
SH3GL2_chr9_17574066_17802124	17758561	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	19	0.0526	27	c.115 others(44): Show c.115-2868_115-2842dupAAAAAAAAAAAAAAAAAAAAAAAAAAA	SH3GL2	ENSG00000107295.10	transcript	ENST00000380607.5	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
SH3GL3_chr15_83442341_83623743	83596867	G G	GTCCTTCC others(20): Show GTCCTTCCTCGGACAAAAAGTCTTTTCC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0293 a0001c0001t0002g0293	1	322	0.0031	27	c.838 others(44): Show c.838+8102_838+8128dupCCTCGGACAAAAAGTCTTTTCCTCCTT	SH3GL3	ENSG00000140600.17	transcript	ENST00000427482.7	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
SH3GLB1_chr1_86699576_86753184	86724890	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0013 a0001c0001t0007g0013	1	223	0.0045	27	c.570 others(42): Show c.570+485_570+486insTATATATATATATATATATATATATAT	SH3GLB1	ENSG00000097033.15	transcript	ENST00000370558.8	protein_coding	5/8			chr1	TogoVar
SH3GLB1_chr1_86699576_86753184	86724892	A A	AAAAAAAA others(20): Show AAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0087 a0001c0001t0004g0087	1	102	0.0098	27	c.570 others(42): Show c.570+488_570+489insAAAAAAAAATATATATATATATATATA	SH3GLB1	ENSG00000097033.15	transcript	ENST00000370558.8	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SH3GLB1_chr1_86699576_86753184	86724892	A A	AAAAAAAT others(20): Show AAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04115.hp1 NA18975.hp2 NA19089.hp1 HG04115.hp1 NA18975.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0026 a0001c0001t0004 a0001c0001t0005 a0001c0001t0026	a0001c0001t0004g0012 a0001c0001t0005g0084 a0001c0001t0026g0101 a0001c0001t0004g0012 a0001c0001t0005g0084 a0001c0001t0026g0101	3	104	0.0288	27	c.570 others(42): Show c.570+488_570+489insAAAAATATATATATATATATATATATA	SH3GLB1	ENSG00000097033.15	transcript	ENST00000370558.8	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SH3GLB1_chr1_86699576_86753184	86724892	A A	AAAAATAT others(20): Show AAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0014 a0001c0001t0005g0014	1	102	0.0098	27	c.570 others(42): Show c.570+488_570+489insAAATATATATATATATATATATATATA	SH3GLB1	ENSG00000097033.15	transcript	ENST00000370558.8	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SH3KBP1_chrX_19528977_19892600	19567553	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	118	0.0085	27	c.138 others(46): Show c.1384+1549_1384+1550insATATATATATATATATATATATATAT A	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	13/17			chrX	TogoVar
SHANK1_chr19_50654255_50724802	50665737	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01952.hp1 HG03130.hp2 others(4): Show HG00423.hp1 HG01952.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 NA18974.hp2 NA19010.hp2	a0001 a0014 a0018 a0001 a0014 a0018	a0001c0002 a0001c0003 a0014c0030 others(1): Show a0001c0002 a0001c0003 a0014c0030 a0018c0024	a0001c0002t0001 a0001c0003t0004 a0001c0003t0008 others(3): Show a0001c0002t0001 a0001c0003t0004 a0001c0003t0008 a0001c0003t0090 a0014c0030t0072 a0018c0024t0079	a0001c0002t0001g0119 a0001c0002t0001g0204 a0001c0003t0004g0057 others(4): Show a0001c0002t0001g0119 a0001c0002t0001g0204 a0001c0003t0004g0057 a0001c0003t0008g0233 a0001c0003t0090g0069 a0014c0030t0072g0074 a0018c0024t0079g0203	7	94	0.0745	27	c.576 others(44): Show c.5768+454_5768+455insTTTTTTTTTTTTTTTTTTTTTTTTTTT	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	23/23			chr19	TogoVar
SHC4_chr15_48818741_48968919	48919295	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02717.hp1 HG03017.hp2 others(3): Show HG02647.hp2 HG02717.hp1 HG03017.hp2 HG03491.hp1 HG03942.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0014	a0001c0001t0001g0071 a0001c0001t0001g0137 a0001c0001t0001g0162 others(3): Show a0001c0001t0001g0071 a0001c0001t0001g0137 a0001c0001t0001g0162 a0001c0001t0002g0078 a0001c0001t0005g0135 a0001c0001t0014g0005	6	50	0.1200	27	c.656 others(44): Show c.656+5583_656+5584insAAAAAAAAAAAAAAAAAAAAAAAAAAA	SHC4	ENSG00000185634.12	transcript	ENST00000332408.9	protein_coding	2/11			chr15	TogoVar
SHCBP1L_chr1_182894865_182958166	182924935	G G	GAAGAAGA others(20): Show GAAGAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	66	0.0152	27	c.118 others(46): Show c.1182+4711_1182+4712insTCTTTCTTTCTTTCTTTCTTTCTTCT T	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182924975	A A	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG03453.hp1 HG01255.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0248 a0001c0001t0001g0230 a0001c0001t0001g0248	2	286	0.0070	27	c.118 others(46): Show c.1182+4671_1182+4672insCTTTCTTTCTTTCTTTCTTTCTTTCT T	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHISA9_chr16_12896598_13245416	13071600	C C	CCTTCCTC others(20): Show CCTTCCTCCCTTCCTCCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0025 a0001c0001t0051g0025	1	198	0.0051	27	c.692 others(48): Show c.692-131793_692-131792insTTCCTCCCTTCCTCCCTTCCTTCC TTC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13071600	C C	CCTTCCTT others(20): Show CCTTCCTTCCTCCCTTCCTCCCTTCCTT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0081 a0001c0001t0090 a0001c0001t0081 a0001c0001t0090	a0001c0001t0081g0169 a0001c0001t0090g0170 a0001c0001t0081g0169 a0001c0001t0090g0170	2	199	0.0101	27	c.692 others(48): Show c.692-131793_692-131792insTTCCTTCCTCCCTTCCTCCCTTCC TTC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISAL1_chr22_44238665_44317951	44241646	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG02135.hp1 NA18964.hp2 others(4): Show HG00280.hp2 HG02135.hp1 NA18964.hp2 NA18983.hp1 NA19055.hp2 NA19064.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0032 a0001c0001t0044 others(1): Show a0001c0001t0006 a0001c0001t0032 a0001c0001t0044 a0001c0002t0006	a0001c0001t0006g0073 a0001c0001t0006g0171 a0001c0001t0032g0060 others(3): Show a0001c0001t0006g0073 a0001c0001t0006g0171 a0001c0001t0032g0060 a0001c0001t0044g0044 a0001c0002t0006g0011 a0001c0002t0006g0203	7	168	0.0417	27	c.80 others(38): Show c.8038_*8039insAAAAAAAAAAAAAAAAAAAAAAAAAAA	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding		2018		chr22	TogoVar
SHOX2_chr3_158090905_158111420	158106620	A A	AGAGAGAG others(20): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0009 a0001c0001t0006g0009	1	357	0.0028	27	c.-59 others(36): Show c.-597_-596insCTCTCTCTCTCTCTCTCTCTCTCTCTC	SHOX2	ENSG00000168779.21	transcript	ENST00000483851.7	protein_coding		201		chr3	TogoVar
SHOX_chrX_625791_656584	626585	G G	GTCTCTCT others(20): Show GTCTCTCTCTCTCCTCTCTCTCTGTATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG02109.hp1 HG02809.hp2 others(2): Show HG00741.hp2 HG02109.hp1 HG02809.hp2 HG02897.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0066 a0001c0001t0151 a0001c0001t0165 others(2): Show a0001c0001t0066 a0001c0001t0151 a0001c0001t0165 a0001c0001t0167 a0001c0002t0169	a0001c0001t0066g0122 a0001c0001t0151g0132 a0001c0001t0165g0125 others(2): Show a0001c0001t0066g0122 a0001c0001t0151g0132 a0001c0001t0165g0125 a0001c0001t0167g0123 a0001c0002t0169g0124	5	123	0.0407	27	c.-43 others(38): Show c.-4313_-4312insTCTCTCTCTCTCCTCTCTCTCTGTATC	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		4205		chrX	TogoVar
SHOX_chrX_625791_656584	636970	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0151 a0001c0001t0151	a0001c0001t0151g0132 a0001c0001t0151g0132	1	83	0.0120	27	c.486 others(44): Show c.486+2145_486+2146insATATATATATATATATATATATATATT	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding	2/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
SHROOM2_chrX_9781429_9954443	9822985	A A	ATTCTTCT others(20): Show ATTCTTCTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0043 a0043	a0043c0063 a0043c0063	a0043c0063t0004 a0043c0063t0004	a0043c0063t0004g0021 a0043c0063t0004g0021	1	150	0.0067	27	c.165 others(46): Show c.165+36280_165+36306dupTCTTCTTCTTCTTCTTCTTCTTCTTC T	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SHROOM3_chr4_76430229_76788253	76735868	A A	AAATATAT others(20): Show AAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0010 a0003c0002t0001g0010	1	150	0.0067	27	c.588 others(44): Show c.588-2892_588-2891insATATATATATATATATATATATATATA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHTN1_chr10_116876477_117010187	116893597	C C	CACACACA others(20): Show CACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	290	0.0034	27	c.167 others(46): Show c.1674-7032_1674-7031insTGTGTGTGTGTGTGTGTGTGTGTGTG T	SHTN1	ENSG00000187164.20	transcript	ENST00000355371.9	protein_coding	16/16			chr10	TogoVar
SIGIRR_chr11_400716_419999	402041	G G	GCCCCGCT others(20): Show GCCCCGCTCACCCGGGACCCCCGCTCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0001 a0008c0013t0001	a0008c0013t0001g0053 a0008c0013t0001g0053	1	225	0.0044	27	c.38 others(38): Show c.3854_*3855insGTGAGCGGGGGTCCCGGGTGAGCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3674		chr11	TogoVar
SIGLEC10_chr19_51405020_51422642	51405400	C C	CTTTTCTT others(20): Show CTTTTCTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0006 a0004c0004t0006	a0004c0004t0006g0043 a0004c0004t0006g0043	1	171	0.0058	27	c.56 others(38): Show c.5698_*5699insAAAAAAAAAAAAAAAAAAAAAAGAAAA	SIGLEC10	ENSG00000142512.15	transcript	ENST00000339313.10	protein_coding		4619		chr19	TogoVar
SIK3_chr11_116838402_117103428	116842618	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG04115.hp2 HG02647.hp2 HG04115.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0006 a0002c0003t0001 a0002c0003t0006	a0002c0003t0001g0353 a0002c0003t0006g0320 a0002c0003t0001g0353 a0002c0003t0006g0320	2	132	0.0152	27	c.30 others(38): Show c.3024_*3025insAAAAAAAAAAAAAAAAAAAAAAAAAAA	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding		783		chr11	TogoVar
SIK3_chr11_116838402_117103428	117013907	G G	GTGTGTGT others(20): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0017 a0017	a0017c0025 a0017c0025	a0017c0025t0002 a0017c0025t0002	a0017c0025t0002g0030 a0017c0025t0002g0030	1	215	0.0047	27	c.274 others(46): Show c.274-56844_274-56843insACACACACACACACACACACACACAC A	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIM2_chr21_36694115_36754917	36736847	T T	TTCTGTCT others(20): Show TTCTGTCTTTCCTCCCTCCCTCCCTTTC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02976.hp2 HG03041.hp2 HG00741.hp1 HG02976.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0007 a0001c0001 a0001c0004 a0001c0007	a0001c0001t0039 a0001c0004t0002 a0001c0007t0012 a0001c0001t0039 a0001c0004t0002 a0001c0007t0012	a0001c0001t0039g0056 a0001c0004t0002g0321 a0001c0007t0012g0390 a0001c0001t0039g0056 a0001c0004t0002g0321 a0001c0007t0012g0390	3	408	0.0074	27	c.851 others(44): Show c.851-4869_851-4868insCTGTCTTTCCTCCCTCCCTCCCTTTCT	SIM2	ENSG00000159263.16	transcript	ENST00000290399.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
SIM2_chr21_36694115_36754917	36737961	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01243.hp2 HG01081.hp1 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0090 a0001c0002t0002g0270 a0001c0002t0002g0090 a0001c0002t0002g0270	2	164	0.0122	27	c.851 others(44): Show c.851-3735_851-3734insAAAAAAAAAAAAAAAAAAAAAAAAAAA	SIM2	ENSG00000159263.16	transcript	ENST00000290399.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
SIPA1L1_chr14_71315476_71746209	71543810	T T	TATATGTA others(20): Show TATATGTATGTGTATATATACATATATC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	172	0.0058	27	c.-30 others(48): Show c.-303+14471_-303+14497dupTGTATGTGTATATATACATATATC ATA	SIPA1L1	ENSG00000197555.10	transcript	ENST00000381232.8	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
SIPA1L1_chr14_71315476_71746209	71742353	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0024 a0001c0006t0001g0024	1	73	0.0137	27	c.31 others(38): Show c.3192_*3193insAAAAAAAAAAAAAAAAAAAAAAAAAAA	SIPA1L1	ENSG00000197555.10	transcript	ENST00000381232.8	protein_coding		1145		chr14	TogoVar
SIPA1L3_chr19_37902208_38213369	37937741	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01255.hp2 HG03490.hp2 HG00558.hp2 HG01255.hp2 HG03490.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0011 a0001c0001 a0001c0003 a0004c0011	a0001c0001t0006 a0001c0003t0004 a0004c0011t0006 a0001c0001t0006 a0001c0003t0004 a0004c0011t0006	a0001c0001t0006g0059 a0001c0003t0004g0111 a0004c0011t0006g0142 a0001c0001t0006g0059 a0001c0003t0004g0111 a0004c0011t0006g0142	3	46	0.0652	27	c.-37 others(48): Show c.-379+30406_-379+30407insAAAAAAAAAAAAAAAAAAAAAAAA AAA	SIPA1L3	ENSG00000105738.11	transcript	ENST00000222345.11	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIX5_chr19_45759785_45774252	45770204	C C	CCAGCAGC others(20): Show CCAGCAGCAGCAGCAGCAGCAGCAGCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp1 NA18984.hp2 HG03704.hp1 NA18984.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0001 a0003c0003t0001g0003 a0001c0001t0001g0001 a0003c0003t0001g0003	2	7	0.2857	27	c.-13 others(38): Show c.-1387_-1361dupCTGCTGCTGCTGCTGCTGCTGCTGCTG	SIX5	ENSG00000177045.11	transcript	ENST00000317578.7	protein_coding		953		chr19	TogoVar
SKAP1_chr17_48128442_48435214	48224047	G G	GAGGAGGA others(20): Show GAGGAGGAGGAGGAGGAGGAGGAGGAGA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	290	0.0034	27	c.281 others(46): Show c.281-34548_281-34547insTCTCCTCCTCCTCCTCCTCCTCCTCC T	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	4/12			chr17	TogoVar
SKAP1_chr17_48128442_48435214	48367549	T T	TGGATATA others(20): Show TGGATATATATCCATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	290	0.0034	27	c.153 others(44): Show c.153-3762_153-3736dupTATATATATATATATGGATATATATCC	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	2/12			chr17	TogoVar
SKAP2_chr7_26662068_26869590	26717509	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01070.hp1 NA18964.hp1 HG00642.hp1 HG01070.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0146 a0001c0001t0001g0162 a0001c0001t0001g0137 a0001c0001t0001g0146 a0001c0001t0001g0162	3	27	0.1111	27	c.796 others(44): Show c.796+7892_796+7918dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	SKAP2	ENSG00000005020.13	transcript	ENST00000345317.7	protein_coding	9/12			chr7	TogoVar
SKIL_chr3_170352715_170401835	170365752	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02293.hp2 NA18975.hp1 NA19067.hp1 others(1): Show HG02293.hp2 NA18975.hp1 NA19067.hp1 NA19075.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0018 a0002c0002t0006 a0002c0002t0018	a0002c0002t0006g0326 a0002c0002t0006g0329 a0002c0002t0006g0333 others(1): Show a0002c0002t0006g0326 a0002c0002t0006g0329 a0002c0002t0006g0333 a0002c0002t0018g0327	4	50	0.0800	27	c.109 others(46): Show c.1098+4344_1098+4345insTTTTTTTTTTTTTTTTTTTTTTTTTT T	SKIL	ENSG00000136603.15	transcript	ENST00000259119.9	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLAMF6_chr1_160480036_160528255	160484243	A A	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	155	0.0065	27	c.24 others(38): Show c.2463_*2464insAAAAATATATATATATATATATATATA	SLAMF6	ENSG00000162739.14	transcript	ENST00000368057.8	protein_coding		792		chr1	TogoVar
SLC12A2_chr5_128078766_128194677	128126966	A A	ATATATAT others(20): Show ATATATATATATATATATATATAATTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02976.hp2 HG02717.hp1 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0023 a0001c0002t0010 a0001c0002t0023	a0001c0002t0010g0033 a0001c0002t0023g0036 a0001c0002t0010g0033 a0001c0002t0023g0036	2	75	0.0267	27	c.104 others(46): Show c.1049-4100_1049-4099insATATATATATATATATATATAATTTT T	SLC12A2	ENSG00000064651.14	transcript	ENST00000262461.7	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC12A3_chr16_56860207_56920850	56887799	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0239 a0001c0004t0001g0239	1	329	0.0030	27	c.217 others(44): Show c.2179-126_2179-125insATATATATATATATATATATATATATA	SLC12A3	ENSG00000070915.10	transcript	ENST00000563236.6	protein_coding	17/25			chr16	TogoVar
SLC12A3_chr16_56860207_56920850	56908161	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02698.hp1 NA18952.hp2 HG02698.hp1 NA18952.hp2	a0002 a0002	a0002c0009 a0002c0011 a0002c0009 a0002c0011	a0002c0009t0005 a0002c0011t0005 a0002c0009t0005 a0002c0011t0005	a0002c0009t0005g0099 a0002c0011t0005g0074 a0002c0009t0005g0099 a0002c0011t0005g0074	2	195	0.0103	27	c.292 others(46): Show c.2924+3718_2924+3719insTTTTTTTTTTTTTTTTTTTTTTTTTT T	SLC12A3	ENSG00000070915.10	transcript	ENST00000563236.6	protein_coding	25/25		INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC12A6_chr15_34224784_34342781	34285713	T T	TACACACA others(20): Show TACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp1 HG00621.hp1 others(64): Show HG00544.hp1 HG00597.hp1 HG00621.hp1 HG00639.hp2 HG01109.hp2 HG01361.hp2 HG01496.hp1 HG01884.hp2 HG02015.hp1 HG02056.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02155.hp1 HG02273.hp2 HG02280.hp1 HG02698.hp2 HG02717.hp1 HG02965.hp2 HG02970.hp2 HG03471.hp1 HG03540.hp2 HG03669.hp2 HG04115.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18939.hp2 NA18943.hp2 NA18948.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18957.hp2 NA18961.hp2 NA18962.hp2 NA18964.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp2 NA18974.hp1 NA18977.hp2 NA18978.hp1 NA18981.hp2 NA18990.hp1 NA18993.hp1 NA18994.hp1 NA18998.hp1 NA19000.hp2 NA19004.hp1 NA19011.hp1 NA19060.hp1 NA19064.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19077.hp2 NA19086.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0010 a0002c0011	a0001c0001t0001 a0001c0002t0002 a0001c0002t0018 others(11): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0018 a0001c0002t0031 a0001c0002t0033 a0001c0002t0045 a0001c0004t0003 a0001c0004t0049 a0001c0006t0001 a0001c0006t0029 a0001c0006t0054 a0001c0010t0002 a0002c0011t0002 a0002c0011t0030	a0001c0001t0001g0005 a0001c0002t0002g0001 a0001c0002t0002g0075 others(63): Show a0001c0001t0001g0005 a0001c0002t0002g0001 a0001c0002t0002g0075 a0001c0002t0002g0194 a0001c0002t0002g0195 a0001c0002t0002g0196 a0001c0002t0002g0198 a0001c0002t0002g0199 a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0002g0202 a0001c0002t0002g0204 a0001c0002t0002g0205 a0001c0002t0002g0206 a0001c0002t0002g0208 a0001c0002t0002g0210 a0001c0002t0002g0211 a0001c0002t0002g0215 a0001c0002t0002g0216 a0001c0002t0002g0217 a0001c0002t0002g0218 a0001c0002t0002g0219 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0002g0224 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0002g0227 a0001c0002t0002g0228 a0001c0002t0002g0231 a0001c0002t0002g0232 a0001c0002t0002g0234 a0001c0002t0002g0235 a0001c0002t0002g0236 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0239 a0001c0002t0002g0241 a0001c0002t0002g0242 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0002g0249 a0001c0002t0002g0252 a0001c0002t0002g0255 a0001c0002t0002g0258 a0001c0002t0018g0064 a0001c0002t0018g0223 a0001c0002t0031g0250 a0001c0002t0033g0207 a0001c0002t0045g0233 a0001c0004t0003g0190 a0001c0004t0003g0192 a0001c0004t0003g0193 a0001c0004t0003g0254 a0001c0004t0049g0191 a0001c0006t0001g0213 a0001c0006t0001g0229 a0001c0006t0001g0230 a0001c0006t0029g0243 a0001c0006t0054g0253 a0001c0010t0002g0244 a0001c0010t0002g0245 a0002c0011t0002g0212 a0002c0011t0030g0240	67	256	0.2617	27	c.272 others(46): Show c.272-10325_272-10324insTGTGTGTGTGTGTGTGTGTGTGTGTG T	SLC12A6	ENSG00000140199.13	transcript	ENST00000354181.8	protein_coding	2/25			chr15	TogoVar
SLC12A6_chr15_34224784_34342781	34285717	T T	TATACACA others(20): Show TATACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG04204.hp1 HG04228.hp2 others(1): Show HG02040.hp1 HG04204.hp1 HG04228.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0012 a0001c0003t0026 a0001c0001t0001 a0001c0001t0012 a0001c0003t0026	a0001c0001t0001g0108 a0001c0001t0012g0165 a0001c0001t0012g0168 others(1): Show a0001c0001t0001g0108 a0001c0001t0012g0165 a0001c0001t0012g0168 a0001c0003t0026g0002	4	77	0.0519	27	c.272 others(46): Show c.272-10329_272-10328insTGTGTGTGTGTGTGTGTGTGTGTGTA T	SLC12A6	ENSG00000140199.13	transcript	ENST00000354181.8	protein_coding	2/25			chr15	TogoVar
SLC12A6_chr15_34224784_34342781	34285717	T T	TGTGTATA others(20): Show TGTGTATACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp2 HG03017.hp1 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0150 a0001c0001t0001g0137 a0001c0001t0001g0150	2	75	0.0267	27	c.272 others(46): Show c.272-10329_272-10328insTGTGTGTGTGTGTGTGTGTGTATACA C	SLC12A6	ENSG00000140199.13	transcript	ENST00000354181.8	protein_coding	2/25			chr15	TogoVar
SLC12A7_chr5_1045384_1117063	1098348	C C	CAGCCCCC others(20): Show CAGCCCCCCTCTAACCCTCTGCTCACCA	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA19030.hp1 HG02040.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0038 a0001c0001 a0002c0038	a0001c0001t0001 a0002c0038t0014 a0001c0001t0001 a0002c0038t0014	a0001c0001t0001g0066 a0002c0038t0014g0118 a0001c0001t0001g0066 a0002c0038t0014g0118	2	112	0.0179	27	c.125 others(44): Show c.125-4101_125-4100insTGGTGAGCAGAGGGTTAGAGGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1098678	C C	ACCCCCTC others(20): Show ACCCCCTCTAACCCTCTGCACACCCAGC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp1 HG03516.hp1 HG01884.hp1 HG02055.hp1 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0010 a0001c0003 a0001c0010	a0001c0003t0003 a0001c0010t0005 a0001c0003t0003 a0001c0010t0005	a0001c0003t0003g0005 a0001c0003t0003g0006 a0001c0010t0005g0009 a0001c0003t0003g0005 a0001c0003t0003g0006 a0001c0010t0005g0009	3	118	0.0254	27	c.125 others(44): Show c.125-4430_125-4429insCTGGGTGTGCAGAGGGTTAGAGGGGGT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1098726	A A	GCCCAGCC others(20): Show GCCCAGCCCCCCTCTAACCCTCTGCACA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG01106.hp2 others(24): Show HG00639.hp1 HG00639.hp2 HG01106.hp2 HG01255.hp1 HG01255.hp2 HG01517.hp1 HG01517.hp2 HG01993.hp2 HG02055.hp2 HG02132.hp1 HG02683.hp2 HG03491.hp2 HG03492.hp2 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG04204.hp1 NA18943.hp1 NA18943.hp2 NA18954.hp1 NA18954.hp2 NA18984.hp1 NA18984.hp2 NA19074.hp2 NA19091.hp2 NA20129.hp2 NA20752.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0001c0006 others(6): Show a0001c0001 a0001c0005 a0001c0006 a0001c0013 a0001c0035 a0002c0002 a0002c0004 a0002c0011 a0003c0027	a0001c0001t0001 a0001c0001t0019 a0001c0001t0023 others(9): Show a0001c0001t0001 a0001c0001t0019 a0001c0001t0023 a0001c0005t0002 a0001c0006t0001 a0001c0006t0021 a0001c0013t0003 a0001c0035t0001 a0002c0002t0002 a0002c0004t0001 a0002c0011t0002 a0003c0027t0004	a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0039 others(24): Show a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0103 a0001c0001t0019g0035 a0001c0001t0023g0033 a0001c0005t0002g0043 a0001c0005t0002g0050 a0001c0006t0001g0048 a0001c0006t0021g0104 a0001c0013t0003g0046 a0001c0013t0003g0047 a0001c0035t0001g0054 a0002c0002t0002g0040 a0002c0002t0002g0045 a0002c0004t0001g0036 a0002c0011t0002g0030 a0002c0011t0002g0031 a0002c0011t0002g0034 a0003c0027t0004g0029	27	117	0.2308	27	c.125 others(44): Show c.125-4478_125-4477insGTGCAGAGGGTTAGAGGGGGGCTGGGC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1098805	T T	TCACCCAG others(20): Show TCACCCAGCCCCCCTCTAACCCTCTGCA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03654.hp1 HG03579.hp1 HG03654.hp1	a0002 a0002	a0002c0016 a0002c0025 a0002c0016 a0002c0025	a0002c0016t0001 a0002c0025t0004 a0002c0016t0001 a0002c0025t0004	a0002c0016t0001g0057 a0002c0025t0004g0061 a0002c0016t0001g0057 a0002c0025t0004g0061	2	83	0.0241	27	c.125 others(44): Show c.125-4558_125-4557insTGCAGAGGGTTAGAGGGGGGCTGGGTG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC13A1_chr7_123108531_123204969	123203997	C C	CTGTCTCT others(20): Show CTGTCTCTTCTTAGATGTTGAGTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	348	0.0029	27	c.-40 others(38): Show c.-4052_-4051insAGAAGACTCAACATCTAAGAAGAGACA	SLC13A1	ENSG00000081800.9	transcript	ENST00000194130.7	protein_coding		4029		chr7	TogoVar
SLC13A4_chr7_135676231_135733186	135718087	A A	ACACACAC others(20): Show ACACACACACCACACACACACACACGTG	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0054 a0001c0002t0003g0054	1	208	0.0048	27	c.228 others(44): Show c.228+3307_228+3308insCACGTGTGTGTGTGTGTGGTGTGTGTG	SLC13A4	ENSG00000164707.16	transcript	ENST00000682651.1	protein_coding	2/15			chr7	TogoVar
SLC15A4_chr12_128788194_128828958	128788832	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0007 a0007	a0007c0023 a0007c0023	a0007c0023t0004 a0007c0023t0004	a0007c0023t0004g0081 a0007c0023t0004g0081	1	33	0.0303	27	c.53 others(38): Show c.5363_*5364insTTTTTTTTTTTTTTTTTTTTTTTTTTT	SLC15A4	ENSG00000139370.12	transcript	ENST00000266771.10	protein_coding		4361		chr12	TogoVar
SLC16A2_chrX_74416493_74538916	74420673	T T	TGGCCCGG others(20): Show TGGCCCGGCCCTGGCCCGGCCCAGACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG02109.hp2 HG02257.hp1 others(4): Show HG00735.hp1 HG02109.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp1 HG02922.hp1 HG03195.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0017 a0001c0001t0001g0068 a0001c0001t0003g0119 others(4): Show a0001c0001t0001g0017 a0001c0001t0001g0068 a0001c0001t0003g0119 a0002c0002t0001g0015 a0002c0002t0001g0029 a0002c0002t0001g0107 a0002c0002t0002g0030	7	228	0.0307	27	c.-96 others(36): Show c.-965_-964insGGCCCGGCCCTGGCCCGGCCCAGACCC	SLC16A2	ENSG00000147100.11	transcript	ENST00000587091.6	protein_coding		819		chrX	TogoVar

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