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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SHQ1_chr3_72744277_72853445	72852094	CTCTCTCT others(11): Show CTCTCTCTCTCTCTATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0207 a0007c0007t0001g0207	1	215	0.0047	-18	c.-37 others(29): Show c.-3772_-3755delTATATAGAGAGAGAGAGA		SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding					3650		chr3	TogoVar
SHQ1_chr3_72744277_72853445	72852098	CTCTCTCT others(11): Show CTCTCTCTCTATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02809.hp2 HG02615.hp1 HG02809.hp2	a0002 a0007 a0002 a0007	a0002c0002 a0007c0007 a0002c0002 a0007c0007	a0002c0002t0004 a0007c0007t0001 a0002c0002t0004 a0007c0007t0001	a0002c0002t0004g0006 a0007c0007t0001g0208 a0002c0002t0004g0006 a0007c0007t0001g0208	2	217	0.0092	-18	c.-37 others(29): Show c.-3776_-3759delTATATATATAGAGAGAGA		SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding					3654		chr3	TogoVar
SHQ1_chr3_72744277_72853445	72852100	CTCTCTCT others(11): Show CTCTCTCTATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0203 a0002c0002t0001g0203	1	215	0.0047	-18	c.-37 others(29): Show c.-3778_-3761delTATATATATATAGAGAGA		SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding					3656		chr3	TogoVar
SHQ1_chr3_72744277_72853445	72852102	CTCTCTAT others(11): Show CTCTCTATATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0018 a0002c0002t0001g0018	1	211	0.0047	-18	c.-37 others(29): Show c.-3780_-3763delTATATATATATATAGAGA		SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding					3658		chr3	TogoVar
SHQ1_chr3_72744277_72853445	72852106	CTATATAT others(11): Show CTATATATATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0024 a0002c0002t0001g0024	1	136	0.0074	-18	c.-37 others(29): Show c.-3784_-3767delTATATATATATATATATA		SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding					3662		chr3	TogoVar
SHROOM2_chrX_9781429_9954443	9815434	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03579.hp1 HG02451.hp1 HG03579.hp1	a0004 a0038 a0004 a0038	a0004c0024 a0038c0031 a0004c0024 a0038c0031	a0004c0024t0007 a0038c0031t0001 a0004c0024t0007 a0038c0031t0001	a0004c0024t0007g0255 a0038c0031t0001g0007 a0004c0024t0007g0255 a0038c0031t0001g0007	2	20	0.1000	-18	c.165 others(37): Show c.165+28754_165+28771delGTGTGTGTGTGTGTGTGT		SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chrX	TogoVar
SHROOM2_chrX_9781429_9954443	9823026	TCTCCTCC others(11): Show TCTCCTCCTCCTCCTCCTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00408.hp2 others(56): Show HG00099.hp1 HG00280.hp1 HG00408.hp2 HG00438.hp2 HG00673.hp1 HG00735.hp1 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01074.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01515.hp1 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG01993.hp1 HG02004.hp2 HG02071.hp1 HG02132.hp1 HG02135.hp1 HG02148.hp1 HG02155.hp1 HG02257.hp2 HG02273.hp1 HG02683.hp2 HG02970.hp1 HG03195.hp1 HG03540.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG04204.hp1 NA18747.hp1 NA18940.hp1 NA18941.hp1 NA18955.hp1 NA18959.hp1 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18984.hp1 NA18990.hp1 NA19002.hp1 NA19009.hp1 NA19010.hp1 NA19055.hp1 NA19064.hp2 NA19089.hp1 NA20752.hp1 NA20805.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0005 a0014 a0016 a0019 a0022 a0039	a0001c0001 a0001c0003 a0001c0007 others(15): Show a0001c0001 a0001c0003 a0001c0007 a0001c0013 a0001c0076 a0002c0002 a0002c0006 a0002c0014 a0002c0026 a0003c0004 a0003c0005 a0003c0009 a0005c0023 a0014c0069 a0016c0029 a0019c0027 a0022c0064 a0039c0066	a0001c0001t0001 a0001c0001t0015 a0001c0003t0001 others(18): Show a0001c0001t0001 a0001c0001t0015 a0001c0003t0001 a0001c0003t0013 a0001c0007t0001 a0001c0013t0001 a0001c0076t0001 a0002c0002t0002 a0002c0006t0002 a0002c0014t0002 a0002c0014t0023 a0002c0026t0007 a0003c0004t0003 a0003c0005t0003 a0003c0009t0004 a0005c0023t0003 a0014c0069t0001 a0016c0029t0007 a0019c0027t0002 a0022c0064t0003 a0039c0066t0019	a0001c0001t0001g0023 a0001c0001t0001g0035 a0001c0001t0001g0036 others(56): Show a0001c0001t0001g0023 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0047 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0167 a0001c0001t0001g0185 a0001c0001t0001g0203 a0001c0001t0001g0208 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0224 a0001c0001t0001g0229 a0001c0001t0001g0240 a0001c0001t0001g0254 a0001c0001t0015g0225 a0001c0003t0001g0003 a0001c0003t0001g0050 a0001c0003t0001g0056 a0001c0003t0001g0097 a0001c0003t0001g0148 a0001c0003t0001g0171 a0001c0003t0001g0186 a0001c0003t0001g0197 a0001c0003t0013g0102 a0001c0007t0001g0110 a0001c0013t0001g0182 a0001c0076t0001g0083 a0002c0002t0002g0052 a0002c0002t0002g0057 a0002c0002t0002g0063 a0002c0002t0002g0088 a0002c0002t0002g0094 a0002c0002t0002g0100 a0002c0002t0002g0132 a0002c0002t0002g0190 a0002c0006t0002g0014 a0002c0006t0002g0090 a0002c0006t0002g0124 a0002c0014t0002g0105 a0002c0014t0023g0201 a0002c0026t0007g0015 a0003c0004t0003g0072 a0003c0004t0003g0079 a0003c0005t0003g0075 a0003c0005t0003g0076 a0003c0005t0003g0082 a0003c0005t0003g0172 a0003c0005t0003g0173 a0003c0009t0004g0242 a0005c0023t0003g0033 a0014c0069t0001g0066 a0016c0029t0007g0237 a0019c0027t0002g0046 a0022c0064t0003g0119 a0039c0066t0019g0184	59	135	0.4370	-18	c.165 others(37): Show c.165+36348_165+36365delTCCTCCTCCTCCTCCTCC		SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chrX	TogoVar
SHROOM2_chrX_9781429_9954443	9868206	ATTTATTT others(11): Show ATTTATTTTTATTTTTATT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02922.hp2 HG06807.hp2 HG02723.hp2 HG02922.hp2 HG06807.hp2	a0006 a0031 a0040 a0006 a0031 a0040	a0006c0039 a0031c0041 a0040c0042 a0006c0039 a0031c0041 a0040c0042	a0006c0039t0002 a0031c0041t0001 a0040c0042t0003 a0006c0039t0002 a0031c0041t0001 a0040c0042t0003	a0006c0039t0002g0032 a0031c0041t0001g0019 a0040c0042t0003g0137 a0006c0039t0002g0032 a0031c0041t0001g0019 a0040c0042t0003g0137	3	46	0.0652	-18	c.166 others(35): Show c.166-5425_166-5408delTATTTTTATTTTTATTTT		SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chrX	TogoVar
SHROOM2_chrX_9781429_9954443	9912198	GACACACA others(11): Show GACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0019 a0002c0019	a0002c0019t0006 a0002c0019t0006	a0002c0019t0006g0227 a0002c0019t0006g0227	1	139	0.0072	-18	c.289 others(39): Show c.2891+13944_2891+13961delCACACACACACACACACA		SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	5/9					INFO_REALIGN_3_PRIME	chrX	TogoVar
SHROOM2_chrX_9781429_9954443	9927356	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0025 a0025	a0025c0072 a0025c0072	a0025c0072t0002 a0025c0072t0002	a0025c0072t0002g0236 a0025c0072t0002g0236	1	22	0.0455	-18	c.289 others(37): Show c.2892-4803_2892-4786delAAAAAAAAAAAAAAAAAA		SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	5/9					INFO_REALIGN_3_PRIME	chrX	TogoVar
SHROOM3_chr4_76430229_76788253	76651401	AATATATA others(11): Show AATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18974.hp1 NA19009.hp2 NA18964.hp2 NA18974.hp1 NA19009.hp2	a0002 a0003 a0028 a0002 a0003 a0028	a0002c0003 a0003c0028 a0028c0030 a0002c0003 a0003c0028 a0028c0030	a0002c0003t0001 a0003c0028t0003 a0028c0030t0001 a0002c0003t0001 a0003c0028t0003 a0028c0030t0001	a0002c0003t0001g0013 a0003c0028t0003g0202 a0028c0030t0001g0040 a0002c0003t0001g0013 a0003c0028t0003g0202 a0028c0030t0001g0040	3	6	0.5000	-18	c.324 others(37): Show c.324-58727_324-58710delTATATATATATATATATA		SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM3_chr4_76430229_76788253	76735854	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0055	1	211	0.0047	-18	c.588 others(35): Show c.588-2905_588-2888delAAAAAAAAAAAAAATATA		SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM3_chr4_76430229_76788253	76735868	AATATATA others(11): Show AATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0071 a0003c0002t0001g0071	1	150	0.0067	-18	c.588 others(35): Show c.588-2874_588-2857delATATATATATATATATAT		SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM3_chr4_76430229_76788253	76746781	CATTATTA others(11): Show CATTATTATTATTATTATT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02559.hp1 HG02647.hp2 others(7): Show HG02451.hp1 HG02559.hp1 HG02647.hp2 HG02976.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03579.hp2 NA18522.hp2 NA19043.hp2	a0003 a0011 a0003 a0011	a0003c0002 a0003c0020 a0011c0018 a0003c0002 a0003c0020 a0011c0018	a0003c0002t0001 a0003c0020t0001 a0011c0018t0001 a0003c0002t0001 a0003c0020t0001 a0011c0018t0001	a0003c0002t0001g0036 a0003c0002t0001g0037 a0003c0002t0001g0041 others(7): Show a0003c0002t0001g0036 a0003c0002t0001g0037 a0003c0002t0001g0041 a0003c0002t0001g0060 a0003c0002t0001g0068 a0003c0002t0001g0071 a0003c0002t0001g0082 a0003c0002t0001g0113 a0003c0020t0001g0058 a0011c0018t0001g0121	10	43	0.2326	-18	c.375 others(37): Show c.3754-2202_3754-2185delATTATTATTATTATTATT		SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	5/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM4_chrX_50581796_50819194	50705989	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0083 a0003c0004t0001g0083	1	46	0.0217	-18	c.118 others(37): Show c.118-10070_118-10053delGTGTGTGTGTGTGTGTGT		SHROOM4	ENSG00000158352.18	transcript	ENST00000376020.9	protein_coding	1/8						chrX	TogoVar
SHROOM4_chrX_50581796_50819194	50764394	GCGAGTGG others(11): Show GCGAGTGGGGGGAAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01361.hp1 HG01884.hp1 others(23): Show HG01243.hp1 HG01361.hp1 HG01884.hp1 HG01934.hp1 HG02258.hp1 HG02486.hp1 HG02572.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02809.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03540.hp1 HG03579.hp1 NA18522.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0008 a0009 a0018	a0001c0001 a0002c0002 a0003c0004 others(7): Show a0001c0001 a0002c0002 a0003c0004 a0003c0010 a0003c0020 a0004c0005 a0005c0006 a0008c0008 a0009c0024 a0018c0015	a0001c0001t0002 a0001c0001t0007 a0001c0001t0012 others(11): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0012 a0002c0002t0001 a0003c0004t0001 a0003c0004t0005 a0003c0004t0006 a0003c0010t0004 a0003c0020t0005 a0004c0005t0002 a0005c0006t0005 a0008c0008t0004 a0009c0024t0002 a0018c0015t0001	a0001c0001t0002g0016 a0001c0001t0002g0057 a0001c0001t0002g0058 others(23): Show a0001c0001t0002g0016 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0102 a0001c0001t0002g0167 a0001c0001t0002g0172 a0001c0001t0007g0175 a0001c0001t0012g0049 a0002c0002t0001g0008 a0002c0002t0001g0054 a0002c0002t0001g0101 a0003c0004t0001g0083 a0003c0004t0005g0125 a0003c0004t0006g0124 a0003c0004t0006g0126 a0003c0004t0006g0128 a0003c0010t0004g0053 a0003c0020t0005g0041 a0004c0005t0002g0173 a0005c0006t0005g0100 a0005c0006t0005g0140 a0005c0006t0005g0141 a0008c0008t0004g0055 a0008c0008t0004g0056 a0009c0024t0002g0127 a0018c0015t0001g0011	26	173	0.1503	-18	c.117 others(37): Show c.117+49490_117+49507delTCTTTTTCCCCCCACTCG		SHROOM4	ENSG00000158352.18	transcript	ENST00000376020.9	protein_coding	1/8						chrX	TogoVar
SHTN1_chr10_116876477_117010187	116963035	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00639.hp1 HG00639.hp2 others(43): Show HG00597.hp1 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG01074.hp1 HG01169.hp2 HG01175.hp1 HG01261.hp1 HG01496.hp2 HG01517.hp2 HG01891.hp2 HG01943.hp2 HG02071.hp2 HG02080.hp1 HG02083.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02155.hp2 HG02683.hp1 HG02965.hp2 HG03041.hp2 HG03139.hp1 HG03195.hp2 HG03491.hp1 HG03710.hp2 HG03942.hp2 HG06807.hp1 NA18612.hp1 NA18940.hp2 NA18952.hp2 NA18956.hp1 NA18961.hp1 NA18981.hp1 NA18986.hp2 NA18998.hp2 NA19004.hp1 NA19005.hp2 NA19011.hp2 NA19043.hp1 NA19054.hp1 NA19080.hp1 NA19080.hp2 NA19082.hp2 NA19085.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0018 a0001c0001t0020 a0001c0001t0027 a0001c0001t0029 a0001c0001t0038 a0001c0001t0063 a0001c0001t0069 a0001c0001t0070	a0001c0001t0001g0003 a0001c0001t0001g0039 a0001c0001t0001g0056 others(43): Show a0001c0001t0001g0003 a0001c0001t0001g0039 a0001c0001t0001g0056 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0085 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0144 a0001c0001t0001g0275 a0001c0001t0003g0195 a0001c0001t0004g0004 a0001c0001t0006g0034 a0001c0001t0006g0037 a0001c0001t0006g0050 a0001c0001t0006g0054 a0001c0001t0006g0090 a0001c0001t0006g0091 a0001c0001t0011g0086 a0001c0001t0011g0088 a0001c0001t0012g0080 a0001c0001t0014g0094 a0001c0001t0018g0121 a0001c0001t0020g0045 a0001c0001t0020g0048 a0001c0001t0027g0040 a0001c0001t0027g0041 a0001c0001t0029g0237 a0001c0001t0038g0132 a0001c0001t0063g0055 a0001c0001t0069g0047 a0001c0001t0070g0068	46	49	0.9388	-18	c.173 others(35): Show c.173-2823_173-2806delAAAAAAAAAAAAAAAAAA		SHTN1	ENSG00000187164.20	transcript	ENST00000355371.9	protein_coding	3/16						chr10	TogoVar
SIGIRR_chr11_400716_419999	409756	TGTGGCCA others(11): Show TGTGGCCAGGCAGAGTGCC	T T	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	240	0.0042	-18	c.7+9 others(28): Show c.7+94_7+111delGGCACTCTGCCTGGCCAC		SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	2/9						chr11	TogoVar
SIGIRR_chr11_400716_419999	415207	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02145.hp2 HG02451.hp2 others(11): Show HG02109.hp1 HG02145.hp2 HG02451.hp2 HG02630.hp2 HG02717.hp1 HG02895.hp2 HG02897.hp2 HG02970.hp1 HG03486.hp2 HG03516.hp1 HG04228.hp1 NA18966.hp2 NA19005.hp1 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0006 a0004c0007 a0001c0001 a0001c0006 a0004c0007	a0001c0001t0001 a0001c0006t0001 a0004c0007t0001 a0001c0001t0001 a0001c0006t0001 a0004c0007t0001	a0001c0001t0001g0022 a0001c0001t0001g0075 a0001c0001t0001g0116 others(11): Show a0001c0001t0001g0022 a0001c0001t0001g0075 a0001c0001t0001g0116 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0160 a0001c0001t0001g0166 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0006t0001g0093 a0001c0006t0001g0094 a0001c0006t0001g0097 a0004c0007t0001g0174	14	23	0.6087	-18	c.-55 others(27): Show c.-556_-539delACACACACACACACACAC		SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding					209		chr11	TogoVar
SIGLEC8_chr19_51445997_51463454	51459532	GATGATTA others(11): Show GATGATTATTATTATTATT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0046 a0002c0002t0003g0046	1	349	0.0029	-18	c.-11 others(29): Show c.-1163_-1146delAATAATAATAATAATCAT		SIGLEC8	ENSG00000105366.15	transcript	ENST00000321424.7	protein_coding					1079		chr19	TogoVar
SIK3_chr11_116838402_117103428	116965734	AATATATA others(11): Show AATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02040.hp2 HG02129.hp1 others(9): Show HG01261.hp2 HG02040.hp2 HG02129.hp1 HG02622.hp1 HG02717.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG04199.hp1 NA18948.hp2 NA19054.hp2 NA19056.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0015 a0001c0001 a0011c0015	a0001c0001t0001 a0001c0001t0003 a0011c0015t0001 a0001c0001t0001 a0001c0001t0003 a0011c0015t0001	a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0157 others(9): Show a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0157 a0001c0001t0001g0214 a0001c0001t0003g0069 a0001c0001t0003g0130 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0144 a0001c0001t0003g0153 a0001c0001t0003g0156 a0011c0015t0001g0129	12	77	0.1558	-18	c.274 others(35): Show c.274-8688_274-8671delATATATATATATATATAT		SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24						chr11	TogoVar
SIK3_chr11_116838402_117103428	117013901	GGGGGGGG others(11): Show GGGGGGGGGGGGAGGGTGT	G G	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0319 a0002c0003t0006g0319	1	320	0.0031	-18	c.274 others(37): Show c.274-56855_274-56838delACACCCTCCCCCCCCCCC		SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24						chr11	TogoVar
SIK3_chr11_116838402_117103428	117023593	CAAACAAA others(11): Show CAAACAAACAAACAAACAA	C C	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0140 a0001c0001t0003g0140	1	329	0.0030	-18	c.274 others(37): Show c.274-66547_274-66530delTTGTTTGTTTGTTTGTTT		SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24						chr11	TogoVar
SIK3_chr11_116838402_117103428	117056536	GATAGATA others(11): Show GATAGATATAGATATAGAT	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02615.hp1 HG02922.hp1 others(6): Show HG01074.hp1 HG02615.hp1 HG02922.hp1 HG03130.hp2 HG03225.hp1 HG03579.hp2 HG03669.hp1 NA18983.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0004 a0001c0002t0011 a0001c0001t0001 a0001c0002t0004 a0001c0002t0011	a0001c0001t0001g0098 a0001c0001t0001g0261 a0001c0001t0001g0296 others(6): Show a0001c0001t0001g0098 a0001c0001t0001g0261 a0001c0001t0001g0296 a0001c0002t0004g0045 a0001c0002t0004g0046 a0001c0002t0004g0054 a0001c0002t0004g0055 a0001c0002t0004g0190 a0001c0002t0011g0056	9	70	0.1286	-18	c.273 others(37): Show c.273+41589_273+41606delATCTATATCTATATCTAT		SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24						chr11	TogoVar
SIKE1_chr1_114764479_114785685	114765216	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02615.hp1 HG03139.hp1 HG02280.hp1 HG02615.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0013 a0001c0001t0003 a0001c0001t0013	a0001c0001t0003g0005 a0001c0001t0013g0032 a0001c0001t0003g0005 a0001c0001t0013g0032	3	44	0.0682	-18	c.90 others(29): Show c.9037_*9054delAAAAAAAAAAAAAAAAAA		SIKE1	ENSG00000052723.12	transcript	ENST00000060969.6	protein_coding					4262		chr1	TogoVar
SIL1_chr5_138941724_139203368	139145629	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18986.hp1 NA19057.hp1 others(1): Show NA18981.hp2 NA18986.hp1 NA19057.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 others(1): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015	4	8	0.5000	-18	c.-10 others(37): Show c.-10-17794_-10-17777delACACACACACACACACAC		SIL1	ENSG00000120725.13	transcript	ENST00000394817.7	protein_coding	1/9						chr5	TogoVar
SIM1_chr6_100380009_100469921	100458006	TTCTCTCT others(11): Show TTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00735.hp1 HG00741.hp1 others(17): Show HG00733.hp1 HG00735.hp1 HG00741.hp1 HG01891.hp2 HG02055.hp1 HG02055.hp2 HG02257.hp1 HG02647.hp1 HG02886.hp2 HG02896.hp1 HG02976.hp1 HG03195.hp2 HG03453.hp1 HG03579.hp2 HG03831.hp2 NA18522.hp1 NA18967.hp2 NA18978.hp2 NA20300.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0022 a0001c0001t0050 a0001c0001t0052 a0001c0001t0074 a0002c0002t0001	a0001c0001t0002g0134 a0001c0001t0002g0152 a0001c0001t0002g0158 others(17): Show a0001c0001t0002g0134 a0001c0001t0002g0152 a0001c0001t0002g0158 a0001c0001t0002g0166 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0164 a0001c0001t0003g0168 a0001c0001t0006g0174 a0001c0001t0008g0137 a0001c0001t0008g0147 a0001c0001t0009g0170 a0001c0001t0009g0206 a0001c0001t0011g0155 a0001c0001t0022g0149 a0001c0001t0050g0156 a0001c0001t0052g0292 a0001c0001t0074g0144 a0002c0002t0001g0109 a0002c0002t0001g0272	20	59	0.3390	-18	c.176 others(35): Show c.176-4180_176-4163delGAGAGAGAGAGAGAGAGA		SIM1	ENSG00000112246.10	transcript	ENST00000369208.8	protein_coding	2/11						chr6	TogoVar
SIM2_chr21_36694115_36754917	36736846	TTTTCTTT others(11): Show TTTTCTTTCTTTCTTTTTC	T T	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0194 a0001c0001t0005g0194	1	407	0.0025	-18	c.851 others(35): Show c.851-4856_851-4839delTTTCTTTCTTTCTTTCTT		SIM2	ENSG00000159263.16	transcript	ENST00000290399.11	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr21	TogoVar
SIN3A_chr15_75364379_75456690	75440192	ATCGTTAT others(11): Show ATCGTTATTACTTACTATT	A A	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	322	0.0031	-18	c.-33 others(35): Show c.-33-9802_-33-9785delAATAGTAAGTAATAACGA		SIN3A	ENSG00000169375.17	transcript	ENST00000394947.8	protein_coding	1/20						chr15	TogoVar
SIPA1L1_chr14_71315476_71746209	71590034	AAAAAAAA others(11): Show AAAAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG03704.hp2 HG01993.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0060 a0001c0001t0002g0034 a0001c0001t0001g0060 a0001c0001t0002g0034	2	167	0.0120	-18	c.149 others(35): Show c.1498+666_1498+683delAAAAAAAAAATATATATA		SIPA1L1	ENSG00000197555.10	transcript	ENST00000381232.8	protein_coding	5/23					INFO_REALIGN_3_PRIME	chr14	TogoVar
SIPA1L1_chr14_71315476_71746209	71627131	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01496.hp1 HG03486.hp2 others(2): Show HG01261.hp1 HG01496.hp1 HG03486.hp2 HG04204.hp2 NA20905.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0015 a0001c0001 a0009c0015	a0001c0001t0001 a0009c0015t0002 a0001c0001t0001 a0009c0015t0002	a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0031 others(2): Show a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0031 a0001c0001t0001g0167 a0009c0015t0002g0113	5	17	0.2941	-18	c.181 others(37): Show c.1818+2921_1818+2938delTTTTTTTTTTTTTTTTTT		SIPA1L1	ENSG00000197555.10	transcript	ENST00000381232.8	protein_coding	7/23					INFO_REALIGN_3_PRIME	chr14	TogoVar
SIPA1L2_chr1_232392965_232635133	232564149	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02040.hp2 HG02486.hp2 others(7): Show HG00544.hp2 HG02040.hp2 HG02486.hp2 HG03041.hp1 HG03209.hp1 HG03225.hp2 NA18946.hp2 NA18964.hp2 NA18969.hp1 NA19002.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0002 a0001c0005 others(5): Show a0001c0001 a0001c0002 a0001c0005 a0001c0016 a0002c0006 a0002c0007 a0002c0049 a0007c0020	a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0005t0002 a0001c0016t0002 a0002c0006t0001 a0002c0007t0001 a0002c0049t0001 a0007c0020t0002	a0001c0001t0002g0022 a0001c0001t0003g0239 a0001c0002t0001g0173 others(7): Show a0001c0001t0002g0022 a0001c0001t0003g0239 a0001c0002t0001g0173 a0001c0002t0001g0181 a0001c0005t0002g0025 a0001c0016t0002g0021 a0002c0006t0001g0220 a0002c0007t0001g0192 a0002c0049t0001g0081 a0007c0020t0002g0023	10	162	0.0617	-18	c.-27 others(39): Show c.-270+10007_-270+10024delACACACACACACACACAC		SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	2/22						chr1	TogoVar
SIPA1L2_chr1_232392965_232635133	232564235	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00544.hp1 others(51): Show HG00280.hp1 HG00323.hp2 HG00544.hp1 HG00597.hp1 HG00673.hp2 HG01168.hp1 HG01261.hp1 HG01517.hp1 HG01891.hp2 HG01952.hp2 HG01975.hp2 HG01993.hp1 HG02056.hp2 HG02080.hp2 HG02129.hp1 HG02559.hp1 HG02572.hp1 HG02922.hp1 HG03017.hp2 HG03041.hp2 HG03195.hp2 HG03239.hp2 HG03453.hp1 HG03491.hp1 HG03491.hp2 HG03540.hp1 HG03704.hp2 HG03942.hp2 HG04184.hp2 HG06807.hp1 NA18945.hp1 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18960.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18973.hp2 NA18979.hp1 NA18984.hp2 NA18989.hp2 NA18993.hp2 NA18999.hp2 NA19000.hp2 NA19007.hp2 NA19011.hp1 NA19030.hp2 NA19054.hp2 NA19057.hp1 NA19058.hp1 NA19068.hp1 NA20300.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0014 a0018 a0020	a0001c0001 a0001c0002 a0001c0003 others(28): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0039 a0001c0050 a0001c0057 a0002c0006 a0002c0007 a0002c0008 a0002c0023 a0002c0036 a0002c0053 a0003c0004 a0003c0013 a0004c0010 a0004c0019 a0005c0043 a0005c0047 a0006c0028 a0007c0029 a0007c0063 a0008c0014 a0009c0046 a0009c0068 a0010c0022 a0011c0042 a0012c0056 a0014c0052 a0018c0048 a0020c0044	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(35): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0005t0001 a0001c0005t0003 a0001c0039t0001 a0001c0050t0004 a0001c0057t0002 a0002c0006t0004 a0002c0006t0007 a0002c0006t0008 a0002c0007t0001 a0002c0008t0001 a0002c0023t0002 a0002c0023t0008 a0002c0036t0001 a0002c0053t0008 a0003c0004t0001 a0003c0013t0001 a0003c0013t0002 a0004c0010t0001 a0004c0019t0003 a0005c0043t0007 a0005c0047t0003 a0006c0028t0001 a0007c0029t0001 a0007c0063t0001 a0008c0014t0015 a0009c0046t0001 a0009c0068t0003 a0010c0022t0002 a0011c0042t0004 a0012c0056t0001 a0014c0052t0001 a0018c0048t0008 a0020c0044t0001	a0001c0001t0001g0163 a0001c0001t0001g0211 a0001c0001t0003g0254 others(51): Show a0001c0001t0001g0163 a0001c0001t0001g0211 a0001c0001t0003g0254 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0136 a0001c0002t0001g0144 a0001c0002t0001g0185 a0001c0002t0001g0198 a0001c0002t0001g0219 a0001c0003t0001g0091 a0001c0003t0002g0024 a0001c0005t0001g0082 a0001c0005t0001g0178 a0001c0005t0003g0236 a0001c0039t0001g0209 a0001c0050t0004g0213 a0001c0057t0002g0047 a0002c0006t0004g0162 a0002c0006t0007g0004 a0002c0006t0008g0262 a0002c0007t0001g0111 a0002c0007t0001g0152 a0002c0007t0001g0153 a0002c0007t0001g0216 a0002c0008t0001g0184 a0002c0023t0002g0071 a0002c0023t0008g0289 a0002c0036t0001g0150 a0002c0053t0008g0272 a0003c0004t0001g0180 a0003c0004t0001g0187 a0003c0004t0001g0199 a0003c0013t0001g0190 a0003c0013t0002g0026 a0003c0013t0002g0057 a0004c0010t0001g0204 a0004c0019t0003g0249 a0005c0043t0007g0001 a0005c0047t0003g0244 a0006c0028t0001g0208 a0007c0029t0001g0139 a0007c0063t0001g0186 a0008c0014t0015g0085 a0009c0046t0001g0151 a0009c0068t0003g0234 a0010c0022t0002g0053 a0010c0022t0002g0054 a0010c0022t0002g0055 a0011c0042t0004g0214 a0012c0056t0001g0114 a0014c0052t0001g0115 a0018c0048t0008g0252 a0020c0044t0001g0141	54	149	0.3624	-18	c.-27 others(37): Show c.-270+9921_-270+9938delACACACACACACACACAC		SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	2/22						chr1	TogoVar
SIPA1L2_chr1_232392965_232635133	232572734	CATACATA others(11): Show CATACATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02630.hp1 HG02647.hp2 others(1): Show HG01109.hp2 HG02630.hp1 HG02647.hp2 HG02809.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0003 a0002c0060 a0008c0014 a0001c0003 a0002c0060 a0008c0014	a0001c0003t0001 a0001c0003t0003 a0002c0060t0003 others(1): Show a0001c0003t0001 a0001c0003t0003 a0002c0060t0003 a0008c0014t0012	a0001c0003t0001g0137 a0001c0003t0003g0263 a0002c0060t0003g0275 others(1): Show a0001c0003t0001g0137 a0001c0003t0003g0263 a0002c0060t0003g0275 a0008c0014t0012g0273	4	164	0.0244	-18	c.-27 others(37): Show c.-270+1422_-270+1439delATATATATATATATGTAT		SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	2/22						chr1	TogoVar
SIPA1L3_chr19_37902208_38213369	38111977	ATGCACAC others(11): Show ATGCACACAGGCACACACC	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0138 a0003c0005t0003g0138	1	162	0.0062	-18	c.229 others(37): Show c.2291+1611_2291+1628delCTGCACACAGGCACACAC		SIPA1L3	ENSG00000105738.11	transcript	ENST00000222345.11	protein_coding	8/21					INFO_REALIGN_3_PRIME	chr19	TogoVar
SIPA1L3_chr19_37902208_38213369	38131541	ATGGGTTT others(11): Show ATGGGTTTTATTCCATGCT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0109 a0003c0005t0003g0109	1	162	0.0062	-18	c.314 others(35): Show c.3143+788_3143+805delTGGGTTTTATTCCATGCT		SIPA1L3	ENSG00000105738.11	transcript	ENST00000222345.11	protein_coding	10/21					INFO_REALIGN_3_PRIME	chr19	TogoVar
SIPA1L3_chr19_37902208_38213369	38178086	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03486.hp1 HG02886.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0130 a0001c0001t0002g0054 a0001c0001t0002g0130	2	15	0.1333	-18	c.420 others(37): Show c.4209-4398_4209-4381delGTGTGTGTGTGTGTGTGT		SIPA1L3	ENSG00000105738.11	transcript	ENST00000222345.11	protein_coding	15/21					INFO_REALIGN_3_PRIME	chr19	TogoVar
SIPA1L3_chr19_37902208_38213369	38199149	GGGTTTGC others(11): Show GGGTTTGCTCTGCCACCCA	G G	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0095 a0001c0001t0025g0095	1	162	0.0062	-18	c.498 others(35): Show c.4984+620_4984+637delTTTGCTCTGCCACCCAGG		SIPA1L3	ENSG00000105738.11	transcript	ENST00000222345.11	protein_coding	19/21					INFO_REALIGN_3_PRIME	chr19	TogoVar
SIPA1_chr11_65633101_65655912	65638048	CGGCCCCG others(11): Show CGGCCCCGCCTCCCGGCAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG01261.hp2 HG01433.hp2 others(1): Show HG00280.hp2 HG01261.hp2 HG01433.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0004t0002 a0001c0001t0003 a0001c0004t0002	a0001c0001t0003g0015 a0001c0004t0002g0008 a0001c0001t0003g0015 a0001c0004t0002g0008	4	401	0.0100	-18	c.-22 others(27): Show c.-225_-208delGGCCCCGCCTCCCGGCAT		SIPA1	ENSG00000213445.10	transcript	ENST00000534313.6	protein_coding					52		chr11	TogoVar
SIRT4_chr12_120297321_120318249	120304827	ATATATAT others(11): Show ATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG00558.hp2 others(84): Show HG00099.hp1 HG00423.hp2 HG00558.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01255.hp1 HG01255.hp2 HG01346.hp2 HG01517.hp1 HG01975.hp2 HG01978.hp2 HG02004.hp2 HG02040.hp2 HG02300.hp1 HG02683.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02976.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03490.hp2 HG03654.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18939.hp2 NA18943.hp1 NA18944.hp1 NA18949.hp2 NA18951.hp1 NA18954.hp1 NA18961.hp1 NA18962.hp2 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18977.hp1 NA18978.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp2 NA19010.hp1 NA19055.hp2 NA19056.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(15): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0056 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0093 a0001c0001t0001g0094	87	318	0.2736	-18	c.497 others(33): Show c.497+771_497+788delATATATATTTTTTTTTTT		SIRT4	ENSG00000089163.4	transcript	ENST00000202967.4	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr12	TogoVar
SIRT7_chr17_81906939_81923176	81909085	CCTCCAGT others(11): Show CCTCCAGTAGGAGGCCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG03471.hp2 HG03540.hp1 HG02615.hp2 HG03471.hp2 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0010 a0001c0002t0002g0010	3	340	0.0088	-18	c.33 others(29): Show c.3313_*3330delAGGGGCCTCCTACTGGAG		SIRT7	ENSG00000187531.14	transcript	ENST00000328666.11	protein_coding					2853		chr17	TogoVar
SIX5_chr19_45759785_45774252	45770204	CCAGCAGC others(11): Show CCAGCAGCAGCAGCAGCAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00642.hp1 others(15): Show HG00140.hp1 HG00280.hp2 HG00642.hp1 HG01099.hp1 HG02258.hp2 HG02622.hp2 HG02647.hp1 HG02886.hp1 HG03017.hp1 HG03017.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03927.hp2 NA18906.hp1 NA18906.hp2 NA18986.hp1 NA18999.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0003 a0004c0004 others(1): Show a0001c0001 a0003c0003 a0004c0004 a0004c0007	a0001c0001t0001 a0003c0003t0001 a0004c0004t0002 others(5): Show a0001c0001t0001 a0003c0003t0001 a0004c0004t0002 a0004c0004t0005 a0004c0004t0008 a0004c0004t0019 a0004c0004t0020 a0004c0007t0006	a0001c0001t0001g0001 a0001c0001t0001g0007 a0003c0003t0001g0003 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0003c0003t0001g0003 a0004c0004t0002g0005 a0004c0004t0005g0010 a0004c0004t0008g0018 a0004c0004t0019g0042 a0004c0004t0020g0043 a0004c0007t0006g0012	18	23	0.7826	-18	c.-13 others(29): Show c.-1378_-1361delCTGCTGCTGCTGCTGCTG		SIX5	ENSG00000177045.11	transcript	ENST00000317578.7	protein_coding					953		chr19	TogoVar
SI_chr3_164973898_165083496	165073170	TTCTCTCT others(11): Show TTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0215 a0002c0006t0001g0215	1	15	0.0667	-18	c.255 others(35): Show c.255+1343_255+1360delGAGAGAGAGAGAGAGAGA		SI	ENSG00000090402.8	transcript	ENST00000264382.8	protein_coding	3/47						chr3	TogoVar
SKAP1_chr17_48128442_48435214	48204997	CTTTCTTT others(11): Show CTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02683.hp2 HG02922.hp1 others(4): Show HG02056.hp1 HG02683.hp2 HG02922.hp1 HG03831.hp1 NA18951.hp1 NA18962.hp2 NA19070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0248 a0002c0002t0001g0253 a0002c0002t0001g0257 others(4): Show a0002c0002t0001g0248 a0002c0002t0001g0253 a0002c0002t0001g0257 a0002c0002t0001g0263 a0002c0002t0001g0267 a0002c0002t0001g0273 a0002c0002t0001g0282	7	290	0.0241	-18	c.281 others(37): Show c.281-15515_281-15498delAAGAAAGAAAGAAAGAAA		SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	4/12						chr17	TogoVar
SKAP1_chr17_48128442_48435214	48224050	GAGGAGGA others(11): Show GAGGAGGAGGAGGAGGAGA	G G	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0258 a0002c0002t0001g0258	1	273	0.0037	-18	c.281 others(37): Show c.281-34568_281-34551delTCTCCTCCTCCTCCTCCT		SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	4/12						chr17	TogoVar
SKAP1_chr17_48128442_48435214	48252713	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0032 a0002c0002t0001g0032	1	77	0.0130	-18	c.281 others(37): Show c.281-63231_281-63214delACACACACACACACACAC		SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	4/12						chr17	TogoVar
SKAP1_chr17_48128442_48435214	48321347	CATTATTA others(11): Show CATTATTATTATTATTATT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA21309.hp2 HG02622.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0235 a0002c0002t0001g0053 a0001c0001t0001g0235 a0002c0002t0001g0053	2	96	0.0208	-18	c.280 others(37): Show c.280+24540_280+24557delAATAATAATAATAATAAT		SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	4/12						chr17	TogoVar
SKAP2_chr7_26662068_26869590	26717509	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01255.hp1 HG01361.hp2 others(10): Show HG01243.hp2 HG01255.hp1 HG01361.hp2 HG02055.hp2 HG02109.hp2 HG02257.hp2 HG02280.hp2 HG02622.hp1 HG02818.hp1 HG03139.hp1 HG03540.hp1 HG06807.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 others(1): Show a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0017	a0001c0001t0006g0223 a0001c0001t0006g0225 a0001c0001t0006g0226 others(10): Show a0001c0001t0006g0223 a0001c0001t0006g0225 a0001c0001t0006g0226 a0001c0001t0006g0228 a0001c0001t0006g0233 a0001c0001t0006g0234 a0001c0001t0008g0197 a0001c0001t0008g0229 a0001c0001t0008g0230 a0001c0001t0008g0231 a0001c0001t0010g0186 a0001c0001t0010g0232 a0001c0001t0017g0227	13	37	0.3514	-18	c.796 others(35): Show c.796+7901_796+7918delTTTTTTTTTTTTTTTTTT		SKAP2	ENSG00000005020.13	transcript	ENST00000345317.7	protein_coding	9/12						chr7	TogoVar
SKAP2_chr7_26662068_26869590	26720051	AACACACA others(11): Show AACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0268 a0001c0001t0002g0268	1	96	0.0104	-18	c.796 others(35): Show c.796+5359_796+5376delGTGTGTGTGTGTGTGTGT		SKAP2	ENSG00000005020.13	transcript	ENST00000345317.7	protein_coding	9/12						chr7	TogoVar
SKI_chr1_2223319_2315213	2304394	CCTGATGC others(11): Show CCTGATGCTGCGGCCCCTG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03654.hp2 HG03654.hp2	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0031 a0003c0013t0031	a0003c0013t0031g0177 a0003c0013t0031g0177	1	328	0.0030	-18	c.157 others(27): Show c.1578_1595delTGATGCTGCGGCCCCTGC	p.Asp others(13): Show p.Asp527_Ala532del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	5/7	2026/6083	1578/2187	526/728		INFO_REALIGN_3_PRIME	chr1	TogoVar

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