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
SH3PXD2A_chr10_103589027_103860576	103608150	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAGTTTACA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01074.hp2 HG02717.hp2 others(6): Show HG01071.hp1 HG01074.hp2 HG02717.hp2 HG02723.hp2 HG03516.hp1 NA18906.hp1 NA19030.hp2 NA19043.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0008 a0001c0003 a0001c0008	a0001c0003t0072 a0001c0008t0027 a0001c0008t0051 others(3): Show a0001c0003t0072 a0001c0008t0027 a0001c0008t0051 a0001c0008t0079 a0001c0008t0126 a0001c0008t0127	a0001c0003t0072g0007 a0001c0008t0027g0160 a0001c0008t0027g0175 others(6): Show a0001c0003t0072g0007 a0001c0008t0027g0160 a0001c0008t0027g0175 a0001c0008t0027g0215 a0001c0008t0051g0247 a0001c0008t0051g0248 a0001c0008t0079g0045 a0001c0008t0126g0163 a0001c0008t0127g0090	9	27	0.3333	23	c.130 others(42): Show c.1309-2234_1309-2233insTGTAAACTTTTTTTTTTTTTTTT	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	13/14			chr10	TogoVar
SH3PXD2A_chr10_103589027_103860576	103608151	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAGTTTAC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03098.hp1 HG03225.hp2 others(1): Show HG03041.hp2 HG03098.hp1 HG03225.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0042 a0001c0005t0016 a0001c0001t0042 a0001c0005t0016	a0001c0001t0042g0096 a0001c0005t0016g0207 a0001c0005t0016g0208 others(1): Show a0001c0001t0042g0096 a0001c0005t0016g0207 a0001c0005t0016g0208 a0001c0005t0016g0242	4	246	0.0163	23	c.130 others(42): Show c.1309-2235_1309-2234insGTAAACTTTTTTTTTTTTTTTTT	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	13/14			chr10	TogoVar
SH3PXD2A_chr10_103589027_103860576	103743566	T T	TATATGTT others(16): Show TATATGTTGCCTAGGCTGGTGGGG	intron_variant intron_variant	MODIFIER	HG01978.hp2 NA20805.hp1 HG01978.hp2 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0050 a0001c0004t0020 a0001c0002t0050 a0001c0004t0020	a0001c0002t0050g0124 a0001c0004t0020g0104 a0001c0002t0050g0124 a0001c0004t0020g0104	2	248	0.0081	23	c.230 others(40): Show c.230-7759_230-7758insCCCCACCAGCCTAGGCAACATAT	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	3/14			chr10	TogoVar
SH3PXD2B_chr5_172328499_172459525	172329540	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0156 a0001c0001t0008g0156	1	110	0.0091	23	c.88 others(34): Show c.8828_*8829insAAAAAAAAAAAAAAAAAAAAAAA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding		3958		chr5	TogoVar
SH3RF3_chr2_109124205_109509634	109495751	C C	CAGAGTGC others(16): Show CAGAGTGCTGGGCGTGAGGCGTGA	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0139 a0001c0001t0007g0139	1	172	0.0058	23	c.248 others(42): Show c.2480+4816_2480+4838dupAGAGTGCTGGGCGTGAGGCGTGA	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SHC4_chr15_48818741_48968919	48919295	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02273.hp1 NA18946.hp2 others(4): Show HG00597.hp2 HG02273.hp1 NA18946.hp2 NA18953.hp2 NA18975.hp2 NA18994.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0002c0003t0003 a0001c0001t0001 a0001c0001t0002 a0002c0003t0003	a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0316 others(4): Show a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0316 a0001c0001t0001g0324 a0001c0001t0002g0113 a0001c0001t0002g0303 a0002c0003t0003g0357	7	51	0.1373	23	c.656 others(40): Show c.656+5583_656+5584insAAAAAAAAAAAAAAAAAAAAAAA	SHC4	ENSG00000185634.12	transcript	ENST00000332408.9	protein_coding	2/11			chr15	TogoVar
SHCBP1L_chr1_182894865_182958166	182924935	G G	GAAGAAGA others(16): Show GAAGAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	66	0.0152	23	c.118 others(42): Show c.1182+4711_1182+4712insTCTTTCTTTCTTTCTTTCTTCTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1_chr16_46573591_46626379	46610544	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	15	0.0667	23	c.597 others(40): Show c.597-2178_597-2156dupAAAAAAAAAAAAAAAAAAAAAAA	SHCBP1	ENSG00000171241.9	transcript	ENST00000303383.8	protein_coding	4/12			chr16	TogoVar
SHISA9_chr16_12896598_13245416	13004954	A A	AAAAAAAG others(16): Show AAAAAAAGAAAAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0087 a0001c0001t0004g0087	1	137	0.0073	23	c.691 others(42): Show c.691+88143_691+88144insAAGAAAAAAAGAAAGAAAGAAAA	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13004962	A A	AAAAAGAA others(16): Show AAAAAGAAAGAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00438.hp1 others(76): Show HG00099.hp2 HG00280.hp2 HG00438.hp1 HG00544.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01433.hp2 HG01884.hp1 HG01891.hp1 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG02015.hp1 HG02071.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02293.hp2 HG02451.hp1 HG02647.hp1 HG02683.hp1 HG02698.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02922.hp2 HG03017.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG06807.hp2 NA18522.hp1 NA18941.hp2 NA18952.hp1 NA18955.hp2 NA18971.hp1 NA18979.hp1 NA18983.hp1 NA19007.hp2 NA19010.hp1 NA19012.hp1 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(49): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0034 a0001c0001t0040 a0001c0001t0041 a0001c0001t0044 a0001c0001t0049 a0001c0001t0052 a0001c0001t0054 a0001c0001t0059 a0001c0001t0064 a0001c0001t0070 a0001c0001t0072 a0001c0001t0073 a0001c0001t0078 a0001c0001t0080 a0001c0001t0081 a0001c0001t0085 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0001t0093 a0001c0001t0097 a0001c0002t0006 a0001c0002t0009 a0001c0002t0013 a0001c0002t0060 a0001c0003t0005 a0001c0003t0036 a0001c0004t0001 a0001c0004t0009	a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0070 others(76): Show a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0070 a0001c0001t0001g0084 a0001c0001t0001g0196 a0001c0001t0002g0011 a0001c0001t0002g0060 a0001c0001t0002g0152 a0001c0001t0002g0161 a0001c0001t0002g0168 a0001c0001t0002g0177 a0001c0001t0002g0202 a0001c0001t0002g0207 a0001c0001t0003g0097 a0001c0001t0003g0147 a0001c0001t0003g0191 a0001c0001t0003g0205 a0001c0001t0004g0009 a0001c0001t0004g0027 a0001c0001t0004g0041 a0001c0001t0004g0048 a0001c0001t0004g0203 a0001c0001t0005g0179 a0001c0001t0006g0042 a0001c0001t0007g0066 a0001c0001t0007g0126 a0001c0001t0007g0135 a0001c0001t0007g0189 a0001c0001t0008g0111 a0001c0001t0008g0129 a0001c0001t0010g0131 a0001c0001t0011g0127 a0001c0001t0011g0139 a0001c0001t0012g0145 a0001c0001t0015g0197 a0001c0001t0016g0200 a0001c0001t0016g0210 a0001c0001t0017g0193 a0001c0001t0018g0132 a0001c0001t0020g0047 a0001c0001t0020g0187 a0001c0001t0022g0162 a0001c0001t0023g0195 a0001c0001t0024g0038 a0001c0001t0026g0064 a0001c0001t0027g0014 a0001c0001t0028g0137 a0001c0001t0029g0005 a0001c0001t0034g0121 a0001c0001t0040g0113 a0001c0001t0041g0019 a0001c0001t0044g0033 a0001c0001t0049g0074 a0001c0001t0052g0100 a0001c0001t0054g0020 a0001c0001t0059g0046 a0001c0001t0064g0112 a0001c0001t0070g0159 a0001c0001t0072g0165 a0001c0001t0073g0109 a0001c0001t0078g0091 a0001c0001t0080g0055 a0001c0001t0081g0169 a0001c0001t0085g0167 a0001c0001t0089g0143 a0001c0001t0090g0170 a0001c0001t0091g0065 a0001c0001t0093g0102 a0001c0001t0097g0105 a0001c0002t0006g0185 a0001c0002t0009g0181 a0001c0002t0009g0184 a0001c0002t0013g0124 a0001c0002t0013g0125 a0001c0002t0060g0183 a0001c0003t0005g0004 a0001c0003t0036g0128 a0001c0004t0001g0071 a0001c0004t0009g0072	79	133	0.5940	23	c.691 others(42): Show c.691+88163_691+88164insAGAAAAGAAAAGAAAGAAAGAAA	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISAL1_chr22_44238665_44317951	44290529	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0023 a0001c0003t0023	a0001c0003t0023g0031 a0001c0003t0023g0031	1	285	0.0035	23	c.282 others(40): Show c.282-4785_282-4784insTTTTTTTTTTTTTTTTTTTTTTT	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	3/4			chr22	TogoVar
SHOX_chrX_625791_656584	636970	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0159 a0001c0001t0033g0159	1	83	0.0120	23	c.486 others(40): Show c.486+2145_486+2146insATATATATATATATATATATATT	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding	2/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
SHROOM2_chrX_9781429_9954443	9875080	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0177 a0003c0004t0003g0177	1	11	0.0909	23	c.317 others(40): Show c.317+1285_317+1307dupAAAAAAAAAAAAAAAAAAAAAAA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SHROOM3_chr4_76430229_76788253	76735868	A A	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0164 a0003c0002t0001g0164	1	150	0.0067	23	c.588 others(40): Show c.588-2892_588-2891insAAAAATATATATATATATATATA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM3_chr4_76430229_76788253	76735868	A A	AAAAATAT others(16): Show AAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0020 a0003c0002t0001g0020	1	150	0.0067	23	c.588 others(40): Show c.588-2892_588-2891insAAATATATATATATATATATATA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHTN1_chr10_116876477_117010187	116899506	G G	GTGTGTGT others(16): Show GTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0042 a0001c0002t0042	a0001c0002t0042g0136 a0001c0002t0042g0136	1	154	0.0065	23	c.167 others(42): Show c.1673+2258_1673+2259insACACACACACACACACACACACA	SHTN1	ENSG00000187164.20	transcript	ENST00000355371.9	protein_coding	16/16			chr10	TogoVar
SIGIRR_chr11_400716_419999	401785	G G	GGCCCGCT others(16): Show GGCCCGCTCACACCCGCCCCGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	180	0.0056	23	c.41 others(34): Show c.4110_*4111insGAGCGGGGCGGGTGTGAGCGGGC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3930		chr11	TogoVar
SIGIRR_chr11_400716_419999	401971	G G	GACCCGCT others(16): Show GACCCGCTCACACCCGACCCGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	226	0.0044	23	c.39 others(34): Show c.3924_*3925insGAGCGGGTCGGGTGTGAGCGGGT	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3744		chr11	TogoVar
SIGIRR_chr11_400716_419999	402045	C C	CGCTCACC others(16): Show CGCTCACCCGGGACCCCGCTCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00544.hp1 HG00735.hp1 others(14): Show HG00099.hp2 HG00544.hp1 HG00735.hp1 HG01975.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02165.hp1 HG02273.hp2 HG02293.hp2 HG03017.hp1 NA18747.hp2 NA18970.hp1 NA18971.hp1 NA18983.hp2 NA18986.hp1 NA19085.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0001 a0001c0001t0001 a0003c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(9): Show a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0001g0034 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0074 a0001c0001t0001g0117 a0001c0001t0001g0119 a0003c0005t0001g0032	17	223	0.0762	23	c.38 others(34): Show c.3850_*3851insTGTGAGCGGGGTCCCGGGTGAGC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3670		chr11	TogoVar
SIGIRR_chr11_400716_419999	402115	C C	CGCTCACC others(16): Show CGCTCACCCGGGACCCCGCTCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG01099.hp2 HG02897.hp1 HG00558.hp1 HG01099.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0003 a0001c0001t0001g0069 a0001c0001t0004g0100 a0001c0001t0001g0003 a0001c0001t0001g0069 a0001c0001t0004g0100	3	229	0.0131	23	c.37 others(34): Show c.3780_*3781insTGTGAGCGGGGTCCCGGGTGAGC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3600		chr11	TogoVar
SIGIRR_chr11_400716_419999	402343	G G	GCCCCGCT others(16): Show GCCCCGCTCACCCCCGACCCGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG00558.hp1 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0069 a0001c0001t0001g0017 a0001c0001t0001g0069	2	223	0.0090	23	c.35 others(34): Show c.3552_*3553insGAGCGGGTCGGGGGTGAGCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3372		chr11	TogoVar
SIGIRR_chr11_400716_419999	402417	C C	CGCTCACC others(16): Show CGCTCACCCGGGACCCCGCTCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	240	0.0042	23	c.34 others(34): Show c.3478_*3479insTGTGAGCGGGGTCCCGGGTGAGC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3298		chr11	TogoVar
SIGIRR_chr11_400716_419999	402606	G G	GCCCCGCT others(16): Show GCCCCGCTCACCCCTGCCCCGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	228	0.0044	23	c.32 others(34): Show c.3289_*3290insGAGCGGGGCAGGGGTGAGCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3109		chr11	TogoVar
SIGIRR_chr11_400716_419999	402659	G G	GCCCCGCT others(16): Show GCCCCGCTCACCCCCGCCCCGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 NA19065.hp1 HG03831.hp1 NA19065.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0067 a0005c0009t0001g0071 a0005c0009t0001g0067 a0005c0009t0001g0071	2	170	0.0118	23	c.32 others(34): Show c.3236_*3237insGAGCGGGGCGGGGGTGAGCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3056		chr11	TogoVar
SIGIRR_chr11_400716_419999	402659	G G	GCCCCGCT others(16): Show GCCCCGCTCACCCCTGCCCCGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00323.hp2 others(62): Show HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01099.hp2 HG01109.hp1 HG01256.hp2 HG01346.hp1 HG01346.hp2 HG01517.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG01981.hp1 HG02071.hp1 HG02074.hp1 HG02109.hp2 HG02129.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03130.hp2 HG03492.hp2 HG03704.hp1 HG03834.hp1 HG04228.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18945.hp2 NA18951.hp1 NA18964.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18978.hp1 NA18983.hp2 NA18986.hp1 NA19030.hp2 NA19065.hp2 NA19068.hp2 NA19079.hp2 NA19085.hp2 NA19087.hp1 NA20752.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0005 a0005c0012 a0001c0001 a0003c0005 a0005c0012	a0001c0001t0001 a0001c0001t0004 a0003c0005t0001 others(1): Show a0001c0001t0001 a0001c0001t0004 a0003c0005t0001 a0005c0012t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(50): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0089 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0001t0004g0100 a0003c0005t0001g0032 a0003c0005t0001g0062 a0003c0005t0001g0072 a0003c0005t0001g0073 a0003c0005t0001g0076 a0003c0005t0001g0082 a0005c0012t0001g0153	65	233	0.2790	23	c.32 others(34): Show c.3236_*3237insGAGCGGGGCAGGGGTGAGCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3056		chr11	TogoVar
SIGLEC6_chr19_51512819_51536670	51526160	T T	TTCCAAGG others(16): Show TTCCAAGGTCCCTGCCCCTGCTGC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	416	0.0024	23	c.118 others(42): Show c.1188+1564_1188+1586dupGCAGCAGGGGCAGGGACCTTGGA	SIGLEC6	ENSG00000105492.16	transcript	ENST00000425629.8	protein_coding	7/7			chr19	TogoVar
SIK1_chr21_43409483_43432131	43410320	T T	TCCCTCTC others(16): Show TCCCTCTCTCCCTCCTCTCTCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp2 HG02280.hp1 others(9): Show HG02109.hp1 HG02109.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02572.hp1 HG02723.hp1 HG02922.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0007 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0003t0007 a0002c0002t0002 a0002c0002t0010	a0001c0001t0001g0002 a0001c0003t0007g0006 a0002c0002t0002g0001 others(3): Show a0001c0001t0001g0002 a0001c0003t0007g0006 a0002c0002t0002g0001 a0002c0002t0002g0015 a0002c0002t0002g0016 a0002c0002t0010g0014	12	20	0.6000	23	c.64 others(34): Show c.6421_*6422insGAGGAGAGAGGAGGGAGAGAGGG	SIK1	ENSG00000142178.9	transcript	ENST00000270162.8	protein_coding		4162		chr21	TogoVar
SIK3_chr11_116838402_117103428	116842618	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG00735.hp1 others(13): Show HG00099.hp2 HG00639.hp1 HG00735.hp1 HG01256.hp2 HG01261.hp1 HG02027.hp1 HG02109.hp1 HG02135.hp1 HG02818.hp1 HG03471.hp1 NA18943.hp1 NA18966.hp1 NA19005.hp2 NA19060.hp2 NA19074.hp1 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0026 a0002c0003 a0001c0002 a0001c0026 a0002c0003	a0001c0002t0002 a0001c0002t0024 a0001c0026t0002 others(2): Show a0001c0002t0002 a0001c0002t0024 a0001c0026t0002 a0002c0003t0006 a0002c0003t0007	a0001c0002t0002g0002 a0001c0002t0002g0009 a0001c0002t0002g0010 others(13): Show a0001c0002t0002g0002 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0024 a0001c0002t0002g0198 a0001c0002t0024g0022 a0001c0026t0002g0196 a0002c0003t0006g0325 a0002c0003t0006g0329 a0002c0003t0006g0335 a0002c0003t0006g0336 a0002c0003t0006g0343 a0002c0003t0007g0316 a0002c0003t0007g0322 a0002c0003t0007g0358	16	146	0.1096	23	c.30 others(34): Show c.3024_*3025insAAAAAAAAAAAAAAAAAAAAAAA	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding		783		chr11	TogoVar
SIK3_chr11_116838402_117103428	116890239	G G	GCCTCTCT others(16): Show GCCTCTCTGAGGGGACCTATGACT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0311 a0002c0003t0006g0311	1	364	0.0027	23	c.865 others(40): Show c.865+5991_865+6013dupAGTCATAGGTCCCCTCAGAGAGG	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	6/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	116942545	C C	CAATGGGC others(16): Show CAATGGGCCAGTAGGAAGAATGAG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0042 a0003c0005t0004g0042	1	364	0.0027	23	c.454 others(42): Show c.454+11476_454+11498dupCTCATTCTTCCTACTGGCCCATT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	3/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	116965753	A A	AACATGGT others(16): Show AACATGGTGAAAACCCGTCTCTGC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01256.hp2 HG01258.hp1 HG00735.hp1 HG01256.hp2 HG01258.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0007 a0002c0003t0006 a0002c0003t0007	a0002c0003t0006g0343 a0002c0003t0007g0315 a0002c0003t0007g0316 a0002c0003t0006g0343 a0002c0003t0007g0315 a0002c0003t0007g0316	3	316	0.0095	23	c.274 others(40): Show c.274-8690_274-8689insGCAGAGACGGGTTTTCACCATGT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117013907	G G	GTGTGTGT others(16): Show GTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0029 a0001c0002t0002g0029	1	215	0.0047	23	c.274 others(42): Show c.274-56844_274-56843insACACACACACACACACACACACA	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117021928	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01928.hp1 NA18970.hp2 HG01928.hp1 NA18970.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0006 a0001c0001t0001 a0002c0003t0006	a0001c0001t0001g0239 a0002c0003t0006g0307 a0001c0001t0001g0239 a0002c0003t0006g0307	2	31	0.0645	23	c.274 others(42): Show c.274-64887_274-64865dupTTTTTTTTTTTTTTTTTTTTTTT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117023615	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01257.hp1 HG01258.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0183 a0002c0004t0005g0185 a0002c0004t0005g0183 a0002c0004t0005g0185	2	358	0.0056	23	c.274 others(42): Show c.274-66552_274-66551insATATATATATATATATATATATA	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117023621	A A	AAAAAAAA others(16): Show AAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0022 a0001c0002t0024g0022	1	199	0.0050	23	c.274 others(42): Show c.274-66558_274-66557insATATATATATATATTTTTTTTTT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117023621	A A	AAAAAAAA others(16): Show AAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0013 a0001c0002t0002g0013	1	199	0.0050	23	c.274 others(42): Show c.274-66558_274-66557insATATATATATATATATTTTTTTT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117023621	A A	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA18966.hp1 HG02165.hp2 NA18966.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0002 a0002c0004t0005 a0001c0002t0002 a0002c0004t0005	a0001c0002t0002g0010 a0002c0004t0005g0020 a0001c0002t0002g0010 a0002c0004t0005g0020	2	200	0.0100	23	c.274 others(42): Show c.274-66558_274-66557insATATATATATATATATATTTTTT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117023621	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0184 a0002c0004t0005g0184	1	199	0.0050	23	c.274 others(42): Show c.274-66558_274-66557insATATATATATATATATATATATA	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIL1_chr5_138941724_139203368	139169861	C C	CCCTCTTT others(16): Show CCCTCTTTCCACGGTCTCCCTCTG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00735.hp1 HG01069.hp2 others(47): Show HG00323.hp2 HG00735.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01361.hp2 HG01496.hp1 HG01516.hp2 HG01891.hp2 HG01934.hp1 HG01943.hp2 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02083.hp2 HG02109.hp1 HG02132.hp2 HG02258.hp2 HG02602.hp2 HG02738.hp1 HG03017.hp2 HG03239.hp2 HG03654.hp1 HG03710.hp1 HG03831.hp1 HG03942.hp1 HG04204.hp2 HG06807.hp2 NA18945.hp2 NA18948.hp1 NA18960.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18968.hp2 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA19004.hp2 NA19056.hp2 NA20905.hp2 NA21309.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0001c0010 others(1): Show a0001c0001 a0001c0002 a0001c0010 a0009c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 a0001c0010t0001 a0009c0013t0001	a0001c0001t0001g0035 a0001c0001t0001g0043 a0001c0001t0001g0044 others(47): Show a0001c0001t0001g0035 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0005g0199 a0001c0002t0001g0038 a0001c0002t0001g0065 a0001c0002t0001g0068 a0001c0002t0001g0070 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0173 a0001c0010t0001g0064 a0009c0013t0001g0045	50	189	0.2646	23	c.-11 others(42): Show c.-11+28407_-11+28408insCAGAGGGAGACCGTGGAAAGAGG	SIL1	ENSG00000120725.13	transcript	ENST00000394817.7	protein_coding	1/9			chr5	TogoVar
SIM2_chr21_36694115_36754917	36737961	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00735.hp2 HG01256.hp1 others(13): Show HG00621.hp1 HG00735.hp2 HG01256.hp1 HG01515.hp1 HG01517.hp2 HG02056.hp1 HG02129.hp1 NA18952.hp2 NA18955.hp2 NA18968.hp1 NA18980.hp1 NA18984.hp2 NA18990.hp2 NA18995.hp2 NA19010.hp1 NA19010.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0007c0017 a0001c0001 a0001c0002 a0007c0017	a0001c0001t0004 a0001c0002t0002 a0001c0002t0006 others(2): Show a0001c0001t0004 a0001c0002t0002 a0001c0002t0006 a0001c0002t0017 a0007c0017t0002	a0001c0001t0004g0091 a0001c0001t0004g0107 a0001c0002t0002g0005 others(12): Show a0001c0001t0004g0091 a0001c0001t0004g0107 a0001c0002t0002g0005 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0143 a0001c0002t0002g0228 a0001c0002t0002g0288 a0001c0002t0006g0162 a0001c0002t0006g0167 a0001c0002t0006g0173 a0001c0002t0006g0174 a0001c0002t0006g0192 a0001c0002t0017g0083 a0007c0017t0002g0299	16	178	0.0899	23	c.851 others(40): Show c.851-3735_851-3734insAAAAAAAAAAAAAAAAAAAAAAA	SIM2	ENSG00000159263.16	transcript	ENST00000290399.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
SIPA1L1_chr14_71315476_71746209	71417469	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0040	1	21	0.0476	23	c.-46 others(44): Show c.-464-95262_-464-95240dupAAAAAAAAAAAAAAAAAAAAAAA	SIPA1L1	ENSG00000197555.10	transcript	ENST00000381232.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
SIPA1L2_chr1_232392965_232635133	232486791	G G	GAAAACAA others(16): Show GAAAACAACTGAAATGTGGTATCA	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	290	0.0034	23	c.180 others(42): Show c.1807-2848_1807-2826dupTGATACCACATTTCAGTTGTTTT	SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	5/22			chr1	TogoVar
SIPA1L2_chr1_232392965_232635133	232631983	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 NA18522.hp2 HG02572.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0012 a0001c0001 a0002c0012	a0001c0001t0010 a0002c0012t0003 a0001c0001t0010 a0002c0012t0003	a0001c0001t0010g0285 a0002c0012t0003g0284 a0001c0001t0010g0285 a0002c0012t0003g0284	2	108	0.0185	23	c.-24 others(34): Show c.-2434_-2433insTTTTTTTTTTTTTTTTTTTTTTT	SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding		1851		chr1	TogoVar
SIPA1L3_chr19_37902208_38213369	38125022	A A	AGGGAGAG others(16): Show AGGGAGAGGGAGAGGGAGACCGTG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03041.hp2 NA19043.hp1 HG02970.hp1 HG03041.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0014 a0001c0004 a0002c0014	a0001c0004t0003 a0001c0004t0013 a0002c0014t0001 a0001c0004t0003 a0001c0004t0013 a0002c0014t0001	a0001c0004t0003g0158 a0001c0004t0013g0089 a0002c0014t0001g0150 a0001c0004t0003g0158 a0001c0004t0013g0089 a0002c0014t0001g0150	3	162	0.0185	23	c.286 others(42): Show c.2868+5157_2868+5158insACCGTGGGGAGAGGGAGAGGGAG	SIPA1L3	ENSG00000105738.11	transcript	ENST00000222345.11	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIRT6_chr19_4169109_4187563	4169272	A A	ACGAGTTC others(16): Show ACGAGTTCAGGAGATCGAGACCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	408	0.0025	23	c.53 others(34): Show c.5322_*5344dupGTGGTCTCGATCTCCTGAACTCG	SIRT6	ENSG00000077463.15	transcript	ENST00000337491.7	protein_coding		4836		chr19	TogoVar
SI_chr3_164973898_165083496	165028683	T T	TGAGGAAA others(16): Show TGAGGAAAGGACATCCTATTCAAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG00673.hp2 others(5): Show HG00438.hp2 HG00558.hp1 HG00673.hp2 NA18941.hp2 NA18975.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 others(5): Show a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0150	8	264	0.0303	23	c.289 others(42): Show c.2892+2006_2892+2028dupGTTGAATAGGATGTCCTTTCCTC	SI	ENSG00000090402.8	transcript	ENST00000264382.8	protein_coding	25/47			chr3	TogoVar
SKAP1_chr17_48128442_48435214	48347829	C C	CTAAATGG others(16): Show CTAAATGGACTGCCTGGCTAGTAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0241 a0001c0005t0001g0242 a0001c0005t0001g0241 a0001c0005t0001g0242	2	290	0.0069	23	c.179 others(40): Show c.179-1846_179-1824dupTTACTAGCCAGGCAGTCCATTTA	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	3/12			chr17	TogoVar
SKAP2_chr7_26662068_26869590	26717509	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02300.hp2 NA19240.hp2 HG02300.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0194 a0001c0001t0001g0091 a0001c0001t0001g0194	2	26	0.0769	23	c.796 others(40): Show c.796+7896_796+7918dupTTTTTTTTTTTTTTTTTTTTTTT	SKAP2	ENSG00000005020.13	transcript	ENST00000345317.7	protein_coding	9/12			chr7	TogoVar
SKAP2_chr7_26662068_26869590	26857310	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18979.hp1 HG02083.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0030 a0001c0001t0004g0109 a0001c0001t0001g0030 a0001c0001t0004g0109	2	11	0.1818	23	c.68- others(38): Show c.68-2443_68-2421dupTTTTTTTTTTTTTTTTTTTTTTT	SKAP2	ENSG00000005020.13	transcript	ENST00000345317.7	protein_coding	1/12			chr7	TogoVar
SKI_chr1_2223319_2315213	2280884	C C	CGGTGGCG others(16): Show CGGTGGCGGAGATCTTCATAGAGA	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA18983.hp1 HG02145.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0003 a0001c0001t0009	a0001c0001t0003g0242 a0001c0001t0009g0102 a0001c0001t0003g0242 a0001c0001t0009g0102	2	326	0.0061	23	c.970 others(42): Show c.970-22092_970-22091insTGGCGGAGATCTTCATAGAGAGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar

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