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
HCRTR2_chr6_55169515_55287617	55245469	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01192.hp2 HG02965.hp1 others(6): Show HG01175.hp2 HG01192.hp2 HG02965.hp1 NA18950.hp1 NA18957.hp1 NA18969.hp2 NA18973.hp2 NA19001.hp1 NA19058.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0001 a0001c0001t0001 a0003c0005t0001	a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0001g0053 others(6): Show a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0068 a0001c0001t0001g0077 a0001c0001t0001g0132 a0001c0001t0001g0259 a0001c0001t0001g0356 a0003c0005t0001g0336	9	368	0.0245	18	c.224 others(35): Show c.224-3150_224-3133dupATATATATATATATATAT		HCRTR2	ENSG00000137252.10	transcript	ENST00000370862.4	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
HCRTR2_chr6_55169515_55287617	55279520	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02293.hp1 HG02738.hp1 others(1): Show HG01361.hp1 HG02293.hp1 HG02738.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0218 a0001c0001t0001g0305 others(1): Show a0001c0001t0001g0199 a0001c0001t0001g0218 a0001c0001t0001g0305 a0001c0001t0001g0341	4	368	0.0109	18	c.984 others(33): Show c.984-786_984-769dupACACACACACACACACAC		HCRTR2	ENSG00000137252.10	transcript	ENST00000370862.4	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
HDAC1_chr1_32287083_32338626	32316283	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01109.hp1 HG02109.hp2 others(3): Show HG00639.hp2 HG01109.hp1 HG02109.hp2 HG02717.hp2 HG02965.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0112 a0001c0001t0001g0113 others(3): Show a0001c0001t0001g0088 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0120	6	146	0.0411	18	c.163 others(33): Show c.163-371_163-370insAAAAAAAAAAAAAAAAAA		HDAC1	ENSG00000116478.12	transcript	ENST00000373548.8	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
HDAC2_chr6_113928028_113976148	113930753	C C	CCTCTCTC others(11): Show CCTCTCTCCCTCTCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0112 a0001c0001t0003g0112	1	402	0.0025	18	c.10 others(31): Show c.10304_*10305insAGAGAGAGAGGGAGAGAG		HDAC2	ENSG00000196591.12	transcript	ENST00000519065.6	protein_coding					2274		chr6	TogoVar
HDAC2_chr6_113928028_113976148	113930753	C C	CCTCTCTC others(11): Show CCTCTCTCTCTCTCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	402	0.0025	18	c.10 others(31): Show c.10304_*10305insAGAGAGAGAGAGAGAGAG		HDAC2	ENSG00000196591.12	transcript	ENST00000519065.6	protein_coding					2274		chr6	TogoVar
HDAC4_chr2_239043168_239406020	239197847	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03195.hp1 HG03710.hp2 HG02683.hp1 HG03195.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0002 a0001c0002t0001 a0001c0007t0003 a0001c0001t0002 a0001c0002t0001 a0001c0007t0003	a0001c0001t0002g0224 a0001c0002t0001g0183 a0001c0007t0003g0044 a0001c0001t0002g0224 a0001c0002t0001g0183 a0001c0007t0003g0044	3	242	0.0124	18	c.95- others(33): Show c.95-7788_95-7771dupCACACACACACACACACA		HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	3/26						chr2	TogoVar
HDAC4_chr2_239043168_239406020	239236833	A A	AAGAAAAT others(11): Show AAGAAAATCAAAGATCCTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp2 HG00544.hp2 others(112): Show HG00140.hp1 HG00438.hp2 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp2 HG00673.hp1 HG00741.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01167.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01496.hp2 HG01884.hp2 HG01975.hp1 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03654.hp2 HG03704.hp1 HG03710.hp2 HG03942.hp2 HG04184.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18950.hp2 NA18954.hp2 NA18977.hp2 NA18983.hp1 NA18990.hp1 NA18993.hp2 NA18998.hp1 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19057.hp1 NA19068.hp1 NA19079.hp2 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0007 a0008	a0001c0001 a0001c0002 a0001c0003 others(21): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0015 a0001c0016 a0001c0022 a0001c0032 a0001c0035 a0001c0036 a0002c0013 a0003c0018 a0003c0019 a0005c0034 a0007c0031 a0008c0029	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(74): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0025 a0001c0001t0026 a0001c0001t0031 a0001c0001t0037 a0001c0001t0039 a0001c0001t0049 a0001c0001t0052 a0001c0001t0055 a0001c0001t0056 a0001c0001t0061 a0001c0001t0066 a0001c0002t0001 a0001c0002t0004 a0001c0002t0006 a0001c0002t0008 a0001c0002t0024 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0007 a0001c0003t0010 a0001c0003t0017 a0001c0003t0022 a0001c0003t0027 a0001c0003t0034 a0001c0004t0004 a0001c0004t0059 a0001c0004t0071 a0001c0005t0001 a0001c0005t0007 a0001c0005t0064 a0001c0006t0001 a0001c0006t0002 a0001c0006t0011 a0001c0006t0026 a0001c0007t0003 a0001c0007t0005 a0001c0007t0021 a0001c0008t0001 a0001c0008t0023 a0001c0009t0040 a0001c0009t0051 a0001c0009t0053 a0001c0009t0054 a0001c0010t0003 a0001c0010t0008 a0001c0010t0041 a0001c0011t0001 a0001c0011t0006 a0001c0012t0028 a0001c0012t0030 a0001c0012t0050 a0001c0015t0047 a0001c0015t0074 a0001c0016t0003 a0001c0016t0019 a0001c0022t0070 a0001c0032t0001 a0001c0035t0067 a0001c0036t0072 a0002c0013t0002 a0003c0018t0001 a0003c0019t0019 a0005c0034t0029 a0007c0031t0001 a0008c0029t0042	a0001c0001t0001g0002 a0001c0001t0001g0025 a0001c0001t0001g0049 others(112): Show a0001c0001t0001g0002 a0001c0001t0001g0025 a0001c0001t0001g0049 a0001c0001t0001g0057 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0156 a0001c0001t0001g0163 a0001c0001t0001g0169 a0001c0001t0001g0200 a0001c0001t0001g0209 a0001c0001t0002g0224 a0001c0001t0002g0236 a0001c0001t0003g0041 a0001c0001t0003g0065 a0001c0001t0003g0093 a0001c0001t0003g0097 a0001c0001t0004g0182 a0001c0001t0005g0016 a0001c0001t0006g0205 a0001c0001t0011g0201 a0001c0001t0013g0109 a0001c0001t0014g0139 a0001c0001t0014g0159 a0001c0001t0014g0190 a0001c0001t0017g0027 a0001c0001t0025g0132 a0001c0001t0026g0177 a0001c0001t0031g0092 a0001c0001t0037g0053 a0001c0001t0039g0219 a0001c0001t0049g0235 a0001c0001t0052g0073 a0001c0001t0055g0077 a0001c0001t0056g0127 a0001c0001t0061g0074 a0001c0001t0066g0005 a0001c0002t0001g0012 a0001c0002t0001g0155 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0183 a0001c0002t0001g0187 a0001c0002t0001g0197 a0001c0002t0001g0208 a0001c0002t0004g0026 a0001c0002t0004g0199 a0001c0002t0006g0030 a0001c0002t0006g0226 a0001c0002t0008g0131 a0001c0002t0024g0164 a0001c0003t0001g0233 a0001c0003t0003g0068 a0001c0003t0004g0017 a0001c0003t0004g0042 a0001c0003t0004g0123 a0001c0003t0005g0004 a0001c0003t0005g0230 a0001c0003t0007g0229 a0001c0003t0010g0069 a0001c0003t0010g0070 a0001c0003t0010g0071 a0001c0003t0017g0001 a0001c0003t0022g0040 a0001c0003t0027g0134 a0001c0003t0034g0007 a0001c0004t0004g0009 a0001c0004t0004g0013 a0001c0004t0059g0006 a0001c0004t0071g0022 a0001c0005t0001g0021 a0001c0005t0007g0032 a0001c0005t0064g0039 a0001c0006t0001g0193 a0001c0006t0002g0191 a0001c0006t0002g0195 a0001c0006t0011g0158 a0001c0006t0026g0058 a0001c0007t0003g0044 a0001c0007t0005g0126 a0001c0007t0021g0024 a0001c0008t0001g0188 a0001c0008t0001g0207 a0001c0008t0023g0203 a0001c0009t0040g0072 a0001c0009t0051g0020 a0001c0009t0053g0003 a0001c0009t0054g0122 a0001c0010t0003g0034 a0001c0010t0008g0067 a0001c0010t0008g0228 a0001c0010t0041g0066 a0001c0011t0001g0118 a0001c0011t0006g0119 a0001c0012t0028g0133 a0001c0012t0030g0225 a0001c0012t0050g0154 a0001c0015t0047g0037 a0001c0015t0074g0028 a0001c0016t0003g0029 a0001c0016t0019g0130 a0001c0022t0070g0094 a0001c0032t0001g0048 a0001c0035t0067g0043 a0001c0036t0072g0129 a0002c0013t0002g0157 a0002c0013t0002g0194 a0003c0018t0001g0096 a0003c0019t0019g0008 a0005c0034t0029g0095 a0007c0031t0001g0098 a0008c0029t0042g0204	115	242	0.4752	18	c.23- others(31): Show c.23-170_23-169insAAGGATCTTTGATTTTCT		HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	2/26						chr2	TogoVar
HDAC4_chr2_239043168_239406020	239269261	C C	CCACACAT others(11): Show CCACACATTCACACACCCA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02896.hp2 HG03098.hp2 others(1): Show HG02895.hp2 HG02896.hp2 HG03098.hp2 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0022 a0001c0003t0010 a0001c0003t0022	a0001c0003t0010g0069 a0001c0003t0010g0070 a0001c0003t0010g0071 others(1): Show a0001c0003t0010g0069 a0001c0003t0010g0070 a0001c0003t0010g0071 a0001c0003t0022g0040	4	242	0.0165	18	c.23- others(35): Show c.23-32615_23-32598dupTGGGTGTGTGAATGTGTG		HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	2/26						chr2	TogoVar
HDAC7_chr12_47777722_47824903	47797895	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0222 a0001c0001t0004g0222	1	380	0.0026	18	c.461 others(33): Show c.461+212_461+213insTCACACACACACACACAC		HDAC7	ENSG00000061273.18	transcript	ENST00000080059.12	protein_coding	5/25						chr12	TogoVar
HDAC8_chrX_72324516_72577843	72554517	G G	GGCGGGGA others(11): Show GGCGGGGAGCGCGGGGAGC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0099 a0001c0001t0001g0100	2	208	0.0096	18	c.437 others(37): Show c.437+13354_437+13371dupGCTCCCCGCGCTCCCCGC		HDAC8	ENSG00000147099.21	transcript	ENST00000373573.9	protein_coding	4/10						chrX	TogoVar
HDAC9_chr7_18490749_19007416	18507170	A A	ATATTATT others(11): Show ATATTATTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02809.hp2 HG02145.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0140 a0001c0001t0004g0139 a0001c0001t0001g0140 a0001c0001t0004g0139	2	156	0.0128	18	c.22+ others(35): Show c.22+10861_22+10878dupTTATTATTATTATTATTA		HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	2/25					INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18568026	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02896.hp2 HG02897.hp1 HG02055.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0019 a0001c0001t0001 a0001c0002t0019	a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0002t0019g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0002t0019g0059	3	156	0.0192	18	c.23- others(35): Show c.23-17245_23-17228dupATATATATATATATATAT		HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	2/25					INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18568026	G G	GTGTATAT others(11): Show GTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01361.hp1 HG02886.hp2 others(7): Show HG00741.hp1 HG01361.hp1 HG02886.hp2 HG03209.hp2 HG03516.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008	a0001c0001t0001 a0001c0001t0038 a0001c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0038 a0001c0002t0001 a0001c0002t0006 a0001c0003t0001 a0001c0004t0006 a0001c0005t0002 a0001c0005t0011 a0001c0008t0024	a0001c0001t0001g0073 a0001c0001t0038g0031 a0001c0002t0001g0044 others(7): Show a0001c0001t0001g0073 a0001c0001t0038g0031 a0001c0002t0001g0044 a0001c0002t0006g0138 a0001c0003t0001g0052 a0001c0004t0006g0053 a0001c0005t0002g0105 a0001c0005t0011g0099 a0001c0005t0011g0107 a0001c0008t0024g0122	10	156	0.0641	18	c.23- others(35): Show c.23-17254_23-17253insGTATATATATATATATAT		HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	2/25					INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18719331	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0014 a0001c0004t0014	a0001c0004t0014g0058 a0001c0004t0014g0058	1	156	0.0064	18	c.173 others(37): Show c.1732-8240_1732-8223dupTTTTTTTTTTTTTTTTTT		HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	12/25					INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18732863	A A	ATACACAC others(11): Show ATACACACACGTGTATGTG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0008 a0001c0010t0008	a0001c0010t0008g0147 a0001c0010t0008g0147	1	156	0.0064	18	c.190 others(37): Show c.1909+5107_1909+5108insACACACACGTGTATGTGT		HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	13/25					INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18732905	G G	GTATATGT others(11): Show GTATATGTGTATACACACA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0051 a0001c0001t0025g0051	1	156	0.0064	18	c.190 others(37): Show c.1909+5149_1909+5150insATATGTGTATACACACAT		HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	13/25					INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18789286	G G	GCGCGCAC others(11): Show GCGCGCACACACACACACA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01175.hp2 HG01891.hp1 others(12): Show HG01169.hp2 HG01175.hp2 HG01891.hp1 HG02027.hp1 HG02040.hp1 HG02109.hp1 HG02145.hp2 HG02280.hp1 HG02572.hp2 HG02602.hp2 HG02922.hp2 HG03209.hp1 NA18983.hp2 NA20129.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0020 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0020 a0001c0001t0021 a0001c0001t0034 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0003t0051 a0001c0006t0008 a0001c0007t0002 a0001c0010t0008	a0001c0001t0001g0073 a0001c0001t0001g0140 a0001c0001t0003g0156 others(12): Show a0001c0001t0001g0073 a0001c0001t0001g0140 a0001c0001t0003g0156 a0001c0001t0020g0141 a0001c0001t0021g0013 a0001c0001t0034g0093 a0001c0002t0001g0033 a0001c0002t0002g0113 a0001c0002t0003g0098 a0001c0002t0003g0108 a0001c0002t0004g0102 a0001c0003t0051g0020 a0001c0006t0008g0071 a0001c0007t0002g0081 a0001c0010t0008g0147	15	156	0.0962	18	c.221 others(37): Show c.2215-4058_2215-4057insGCGCACACACACACACAC		HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	16/25					INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18824044	G G	GGAAGAAG others(11): Show GGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG03579.hp1 NA18906.hp1 others(1): Show HG00738.hp1 HG03579.hp1 NA18906.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0010 a0001c0002t0042 a0001c0003t0001 a0001c0001t0010 a0001c0002t0042 a0001c0003t0001	a0001c0001t0010g0103 a0001c0001t0010g0153 a0001c0002t0042g0019 others(1): Show a0001c0001t0010g0103 a0001c0001t0010g0153 a0001c0002t0042g0019 a0001c0003t0001g0052	4	156	0.0256	18	c.232 others(37): Show c.2323-5089_2323-5072dupGAAGAAGAAGAAGAAGAA		HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	17/25					INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18824044	G G	GGAAGAGG others(11): Show GGAAGAGGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01891.hp2 HG02129.hp1 others(7): Show HG00639.hp2 HG01891.hp2 HG02129.hp1 HG03041.hp2 HG03209.hp1 HG03486.hp2 HG03492.hp1 HG03516.hp2 NA18939.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(7): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0029 a0001c0002t0002 a0001c0003t0005 a0001c0003t0008 a0001c0003t0051 a0001c0005t0005	a0001c0001t0002g0094 a0001c0001t0004g0089 a0001c0001t0006g0048 others(7): Show a0001c0001t0002g0094 a0001c0001t0004g0089 a0001c0001t0006g0048 a0001c0001t0010g0024 a0001c0001t0029g0068 a0001c0002t0002g0034 a0001c0003t0005g0006 a0001c0003t0008g0146 a0001c0003t0051g0020 a0001c0005t0005g0106	10	156	0.0641	18	c.232 others(37): Show c.2323-5112_2323-5111insGGAAGAAGAAGAAGAAGA		HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	17/25					INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18824044	G G	GGAAGAGG others(11): Show GGAAGAGGAAGAGGAAGAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01361.hp2 HG03942.hp2 HG00639.hp1 HG01361.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0005 a0001c0002t0041 a0001c0001t0003 a0001c0001t0005 a0001c0002t0041	a0001c0001t0003g0110 a0001c0001t0005g0003 a0001c0002t0041g0056 a0001c0001t0003g0110 a0001c0001t0005g0003 a0001c0002t0041g0056	3	156	0.0192	18	c.232 others(37): Show c.2323-5112_2323-5111insGGAAGAGGAAGAAGAAGA		HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	17/25					INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18824044	G G	GGAAGAGG others(11): Show GGAAGAGGAGGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG04199.hp1 HG00738.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0016 a0001c0002t0001 a0001c0001t0016 a0001c0002t0001	a0001c0001t0016g0101 a0001c0002t0001g0126 a0001c0001t0016g0101 a0001c0002t0001g0126	2	156	0.0128	18	c.232 others(37): Show c.2323-5112_2323-5111insGGAGGAAGAAGAAGAAGA		HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	17/25					INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18905888	C C	CCTTTCTT others(11): Show CCTTTCTTTTCCTTCTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00738.hp1 others(72): Show HG00438.hp1 HG00438.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01109.hp1 HG01109.hp2 HG01169.hp1 HG01255.hp1 HG01255.hp2 HG01361.hp1 HG01361.hp2 HG01884.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03209.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03669.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18939.hp2 NA18945.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA19007.hp2 NA19030.hp2 NA19056.hp1 NA19056.hp2 NA19240.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(46): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0027 a0001c0001t0029 a0001c0001t0031 a0001c0001t0035 a0001c0001t0036 a0001c0001t0039 a0001c0001t0043 a0001c0001t0048 a0001c0001t0050 a0001c0001t0052 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0015 a0001c0002t0017 a0001c0002t0018 a0001c0002t0030 a0001c0002t0049 a0001c0003t0001 a0001c0003t0007 a0001c0003t0013 a0001c0003t0015 a0001c0003t0051 a0001c0003t0053 a0001c0004t0012 a0001c0004t0014 a0001c0004t0040 a0001c0004t0055 a0001c0005t0011 a0001c0006t0009 a0001c0007t0002 a0001c0008t0024 a0001c0009t0002	a0001c0001t0001g0072 a0001c0001t0002g0148 a0001c0001t0003g0002 others(72): Show a0001c0001t0001g0072 a0001c0001t0002g0148 a0001c0001t0003g0002 a0001c0001t0003g0110 a0001c0001t0003g0130 a0001c0001t0003g0133 a0001c0001t0004g0064 a0001c0001t0004g0083 a0001c0001t0004g0089 a0001c0001t0004g0139 a0001c0001t0005g0077 a0001c0001t0005g0120 a0001c0001t0006g0039 a0001c0001t0007g0041 a0001c0001t0007g0151 a0001c0001t0009g0125 a0001c0001t0010g0005 a0001c0001t0010g0024 a0001c0001t0010g0103 a0001c0001t0010g0153 a0001c0001t0014g0017 a0001c0001t0022g0079 a0001c0001t0023g0100 a0001c0001t0025g0051 a0001c0001t0027g0057 a0001c0001t0029g0068 a0001c0001t0031g0152 a0001c0001t0035g0054 a0001c0001t0036g0136 a0001c0001t0039g0129 a0001c0001t0043g0038 a0001c0001t0048g0087 a0001c0001t0050g0062 a0001c0001t0052g0055 a0001c0002t0001g0044 a0001c0002t0001g0126 a0001c0002t0002g0034 a0001c0002t0002g0086 a0001c0002t0002g0097 a0001c0002t0002g0113 a0001c0002t0003g0063 a0001c0002t0003g0067 a0001c0002t0003g0080 a0001c0002t0003g0082 a0001c0002t0003g0116 a0001c0002t0003g0132 a0001c0002t0004g0025 a0001c0002t0004g0091 a0001c0002t0004g0150 a0001c0002t0005g0092 a0001c0002t0005g0115 a0001c0002t0005g0121 a0001c0002t0006g0138 a0001c0002t0015g0001 a0001c0002t0017g0111 a0001c0002t0017g0112 a0001c0002t0018g0021 a0001c0002t0030g0015 a0001c0002t0049g0066 a0001c0003t0001g0022 a0001c0003t0007g0030 a0001c0003t0013g0045 a0001c0003t0015g0004 a0001c0003t0051g0020 a0001c0003t0053g0010 a0001c0004t0012g0023 a0001c0004t0014g0058 a0001c0004t0040g0016 a0001c0004t0055g0144 a0001c0005t0011g0099 a0001c0005t0011g0107 a0001c0006t0009g0042 a0001c0007t0002g0081 a0001c0008t0024g0122 a0001c0009t0002g0065	75	156	0.4808	18	c.280 others(39): Show c.2804-29910_2804-29893dupCTTCTTTTCTTTCTTTTC		HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	22/25					INFO_REALIGN_3_PRIME	chr7	TogoVar
HDDC2_chr6_125270350_125306967	125301442	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01496.hp1 others(5): Show HG01256.hp1 HG01258.hp1 HG01496.hp1 HG01981.hp2 HG02083.hp1 HG02155.hp2 HG02698.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0009 a0001c0001t0003g0148 a0001c0001t0003g0160 a0001c0001t0003g0009 a0001c0001t0003g0148 a0001c0001t0003g0160	8	374	0.0214	18	c.84+ others(31): Show c.84+389_84+406dupGTGTGTGTGTGTGTGTGT		HDDC2	ENSG00000111906.18	transcript	ENST00000398153.7	protein_coding	1/5						chr6	TogoVar
HDDC2_chr6_125270350_125306967	125301442	T T	TACACACA others(11): Show TACACACACACACACATAC	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0136 a0001c0001t0003g0136	1	374	0.0027	18	c.84+ others(31): Show c.84+406_84+407insGTATGTGTGTGTGTGTGT		HDDC2	ENSG00000111906.18	transcript	ENST00000398153.7	protein_coding	1/5						chr6	TogoVar
HDGFL1_chr6_22564566_22576666	22570091	G G	GGCGGAGA others(11): Show GGCGGAGAGGGCGGCGGAA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01109.hp1 HG03453.hp1 NA18906.hp1 others(1): Show HG01109.hp1 HG03453.hp1 NA18906.hp1 NA19240.hp2	a0004 a0007 a0004 a0007	a0004c0006 a0007c0012 a0004c0006 a0007c0012	a0004c0006t0003 a0004c0006t0018 a0007c0012t0024 a0004c0006t0003 a0004c0006t0018 a0007c0012t0024	a0004c0006t0003g0000 a0004c0006t0018g0000 a0007c0012t0024g0000 a0004c0006t0003g0000 a0004c0006t0018g0000 a0007c0012t0024g0000	4	432	0.0093	18	c.533 others(25): Show c.533_550dupAAGCGGAGAGGGCGGCGG	p.Glu others(13): Show p.Glu178_Ala183dup	HDGFL1	ENSG00000112273.7	transcript	ENST00000510882.4	protein_coding	1/1	561/2101	551/756	184/251		INFO_REALIGN_3_PRIME	chr6	TogoVar
HDGFL3_chr15_83122753_83212823	83198054	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02451.hp2 HG03209.hp2 HG00733.hp1 HG02451.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0035 a0001c0001t0051 a0001c0001t0013 a0001c0001t0035 a0001c0001t0051	a0001c0001t0013g0032 a0001c0001t0035g0091 a0001c0001t0051g0119 a0001c0001t0013g0032 a0001c0001t0035g0091 a0001c0001t0051g0119	3	246	0.0122	18	c.84+ others(33): Show c.84+9259_84+9276dupTTTTTTTTTTTTTTTTTT		HDGFL3	ENSG00000166503.9	transcript	ENST00000299633.7	protein_coding	1/5						chr15	TogoVar
HDGFL3_chr15_83122753_83212823	83206898	G G	GAATTGGA others(11): Show GAATTGGAAGAGAAGGAAT	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0084 a0001c0001t0003g0084	1	246	0.0041	18	c.84+ others(31): Show c.84+432_84+433insATTCCTTCTCTTCCAATT		HDGFL3	ENSG00000166503.9	transcript	ENST00000299633.7	protein_coding	1/5						chr15	TogoVar
HDHD3_chr9_113368422_113381986	113381760	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG01123.hp1 HG01167.hp2 others(31): Show HG00621.hp2 HG01123.hp1 HG01167.hp2 HG01261.hp1 HG01346.hp2 HG01496.hp1 HG01975.hp1 HG02040.hp2 HG02055.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02148.hp1 HG02486.hp1 HG02738.hp2 HG02896.hp2 HG03041.hp2 HG03139.hp1 HG03704.hp1 HG03834.hp2 HG04115.hp2 NA18941.hp1 NA18941.hp2 NA18946.hp1 NA18947.hp2 NA18990.hp2 NA18994.hp2 NA19002.hp1 NA19030.hp1 NA19056.hp1 NA19065.hp1 NA19070.hp1 NA20905.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0013 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0003t0002	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0027 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0042 a0001c0001t0001g0072 a0001c0001t0002g0035 a0001c0001t0007g0068 a0001c0001t0013g0077 a0002c0002t0001g0071 a0002c0002t0002g0004 a0002c0002t0002g0011 a0002c0002t0002g0098 a0002c0002t0004g0012 a0002c0003t0002g0019 a0002c0003t0002g0084	34	464	0.0733	18	c.-53 others(29): Show c.-5323_-5322insAAAAAAAAAAAAAAAAAA		HDHD3	ENSG00000119431.10	transcript	ENST00000374180.4	protein_coding					4775		chr9	TogoVar
HDHD5_chr22_17132520_17164277	17157085	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp2 HG02109.hp2 HG00738.hp1 HG00738.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0177 a0001c0004t0001g0235 a0001c0004t0001g0236 a0001c0001t0001g0177 a0001c0004t0001g0235 a0001c0004t0001g0236	3	422	0.0071	18	c.126 others(35): Show c.126+2023_126+2040dupGTGTGTGTGTGTGTGTGT		HDHD5	ENSG00000069998.12	transcript	ENST00000336737.8	protein_coding	1/7						chr22	TogoVar
HEATR4_chr14_73473484_73563947	73477094	A A	ATATATAT others(11): Show ATATATATATATTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0154 a0001c0001t0004g0154	1	368	0.0027	18	c.15 others(29): Show c.1511_*1512insAAAAAAAATATATATATA		HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding					1389		chr14	TogoVar
HEATR4_chr14_73473484_73563947	73506804	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00738.hp1 others(19): Show HG00408.hp1 HG00408.hp2 HG00738.hp1 HG01975.hp2 HG02040.hp2 HG02523.hp1 HG03130.hp1 HG06807.hp2 NA18522.hp2 NA18947.hp1 NA18947.hp2 NA18951.hp2 NA18954.hp1 NA18959.hp2 NA18971.hp1 NA18975.hp2 NA18978.hp1 NA18984.hp1 NA18999.hp2 NA19065.hp2 NA19068.hp2 NA19091.hp2	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0001 a0004c0012 a0008c0024 others(1): Show a0001c0001 a0004c0012 a0008c0024 a0008c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0004c0012t0004 a0008c0024t0003 a0008c0028t0003	a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0063 others(19): Show a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0063 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0099 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0002g0205 a0001c0001t0002g0261 a0001c0001t0002g0303 a0001c0001t0003g0213 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0255 a0004c0012t0004g0162 a0008c0024t0003g0231 a0008c0028t0003g0232	22	368	0.0598	18	c.188 others(35): Show c.1882-251_1882-234dupAAAAAAAAAAAAAAAAAA		HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	9/17						chr14	TogoVar
HEATR4_chr14_73473484_73563947	73524310	A A	AAAAAAAA others(11): Show AAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0350 a0001c0001t0004g0350	1	368	0.0027	18	c.-72 others(35): Show c.-72-1087_-72-1086insATATATATATTTTTTTTT		HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	2/17						chr14	TogoVar
HEATR4_chr14_73473484_73563947	73524310	A A	AAAATATA others(11): Show AAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0329 a0001c0001t0004g0329	1	368	0.0027	18	c.-72 others(35): Show c.-72-1087_-72-1086insATATATATATATATATTT		HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	2/17						chr14	TogoVar
HEATR5A_chr14_31286788_31425550	31344268	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0164 a0002c0002t0001g0164	1	354	0.0028	18	c.305 others(35): Show c.3059-221_3059-204dupAAAAAAAAAAAAAAAAAA		HEATR5A	ENSG00000129493.15	transcript	ENST00000543095.7	protein_coding	20/35						chr14	TogoVar
HEATR5B_chr2_36975895_37089372	36982863	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG03942.hp2 NA20805.hp2 HG02155.hp2 HG03942.hp2 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0012 a0001c0002 a0001c0005 a0001c0012	a0001c0002t0001 a0001c0005t0001 a0001c0012t0004 a0001c0002t0001 a0001c0005t0001 a0001c0012t0004	a0001c0002t0001g0223 a0001c0005t0001g0023 a0001c0012t0004g0307 a0001c0002t0001g0223 a0001c0005t0001g0023 a0001c0012t0004g0307	3	314	0.0096	18	c.591 others(37): Show c.5912-1087_5912-1070dupGTGTGTGTGTGTGTGTGT		HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35						chr2	TogoVar
HEATR5B_chr2_36975895_37089372	37037145	G G	GAGATGGA others(11): Show GAGATGGATATATATATAT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0236 a0001c0002t0001g0236	1	314	0.0032	18	c.321 others(35): Show c.3216+709_3216+710insATATATATATATCCATCT		HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	21/35						chr2	TogoVar
HEATR5B_chr2_36975895_37089372	37037145	G G	GATATATA others(11): Show GATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0227 a0001c0004t0001g0227	1	314	0.0032	18	c.321 others(35): Show c.3216+709_3216+710insATATATATATATATATAT		HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	21/35						chr2	TogoVar
HEATR5B_chr2_36975895_37089372	37082086	T T	TTTTTTTT others(11): Show TTTTTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0051 a0002c0003t0002g0051	1	314	0.0032	18	c.126 others(35): Show c.126+1202_126+1203insGAAAAAAAAAAAAAAAAA		HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	2/35						chr2	TogoVar
HEATR6_chr17_60036008_60083921	60049122	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG03486.hp1 HG02896.hp1 HG02897.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0190 a0001c0001t0014g0191 a0001c0001t0014g0195 a0001c0001t0014g0190 a0001c0001t0014g0191 a0001c0001t0014g0195	3	250	0.0120	18	c.254 others(35): Show c.2547+440_2547+457dupACACACACACACACACAC		HEATR6	ENSG00000068097.16	transcript	ENST00000184956.11	protein_coding	16/19						chr17	TogoVar
HEBP1_chr12_12969870_13005265	12987590	T T	TTCTCTCT others(11): Show TTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02083.hp1 NA18981.hp1 HG00408.hp1 HG02083.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0231 a0001c0001t0001g0057 a0001c0001t0001g0231	3	396	0.0076	18	c.218 others(33): Show c.218-276_218-259dupGAGAGAGAGAGAGAGAGA		HEBP1	ENSG00000013583.10	transcript	ENST00000014930.9	protein_coding	2/3						chr12	TogoVar
HECA_chr6_139130080_139185802	139152418	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02630.hp2 HG03098.hp1 others(8): Show HG02055.hp1 HG02630.hp2 HG03098.hp1 HG03490.hp1 HG03579.hp2 HG03704.hp2 HG03831.hp1 HG04184.hp2 NA18951.hp2 NA18975.hp1 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0004 a0001c0001t0011 a0001c0002t0003 others(2): Show a0001c0001t0004 a0001c0001t0011 a0001c0002t0003 a0001c0002t0035 a0001c0007t0003	a0001c0001t0004g0186 a0001c0001t0011g0146 a0001c0002t0003g0008 others(5): Show a0001c0001t0004g0186 a0001c0001t0011g0146 a0001c0002t0003g0008 a0001c0002t0003g0026 a0001c0002t0003g0045 a0001c0002t0003g0124 a0001c0002t0035g0123 a0001c0007t0003g0107	11	314	0.0350	18	c.272 others(37): Show c.272-13856_272-13839dupGTGTGTGTGTGTGTGTGT		HECA	ENSG00000112406.5	transcript	ENST00000367658.3	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr6	TogoVar
HECTD1_chr14_31095117_31212793	31134042	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02056.hp2 HG02080.hp2 others(17): Show HG01243.hp1 HG02056.hp2 HG02080.hp2 HG02129.hp2 HG02451.hp2 HG02809.hp2 NA18747.hp2 NA18943.hp1 NA18950.hp2 NA18957.hp1 NA18966.hp1 NA18968.hp2 NA18973.hp2 NA18983.hp2 NA18986.hp1 NA18993.hp2 NA19003.hp1 NA19009.hp2 NA19043.hp1 NA19068.hp2	a0001 a0007 a0001 a0007	a0001c0002 a0001c0003 a0001c0012 others(1): Show a0001c0002 a0001c0003 a0001c0012 a0007c0028	a0001c0002t0001 a0001c0003t0001 a0001c0012t0001 others(1): Show a0001c0002t0001 a0001c0003t0001 a0001c0012t0001 a0007c0028t0001	a0001c0002t0001g0053 a0001c0002t0001g0056 a0001c0002t0001g0060 others(17): Show a0001c0002t0001g0053 a0001c0002t0001g0056 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0084 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0003t0001g0275 a0001c0003t0001g0276 a0001c0003t0001g0291 a0001c0012t0001g0051 a0001c0012t0001g0054 a0001c0012t0001g0055 a0001c0012t0001g0059 a0007c0028t0001g0069	20	342	0.0585	18	c.357 others(35): Show c.3579-368_3579-367insTTTTTTTTTTTTTTTTTT		HECTD1	ENSG00000092148.14	transcript	ENST00000399332.6	protein_coding	22/42						chr14	TogoVar
HECTD4_chr12_112155195_112387431	112217297	G G	GCATACAC others(11): Show GCATACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA19043.hp2 HG03516.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0158 a0001c0001t0001g0159	2	270	0.0074	18	c.707 others(35): Show c.7075-120_7075-103dupTGTGTGTGTGTGTGTATG		HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	45/75						chr12	TogoVar
HECTD4_chr12_112155195_112387431	112335143	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00735.hp2 HG01071.hp1 others(34): Show HG00597.hp1 HG00735.hp2 HG01071.hp1 HG01433.hp1 HG01928.hp1 HG01934.hp2 HG01993.hp1 HG02027.hp2 HG02074.hp1 HG02135.hp1 HG02148.hp1 HG02647.hp2 HG02717.hp1 HG02809.hp1 HG03453.hp2 NA18942.hp1 NA18943.hp1 NA18947.hp2 NA18959.hp2 NA18960.hp2 NA18964.hp1 NA18965.hp1 NA18967.hp1 NA18969.hp1 NA18974.hp1 NA18978.hp2 NA18982.hp1 NA18989.hp1 NA19002.hp1 NA19007.hp1 NA19009.hp1 NA19057.hp2 NA19067.hp2 NA19070.hp1 NA19086.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0001 a0001c0002 a0001c0007 others(5): Show a0001c0001 a0001c0002 a0001c0007 a0001c0016 a0001c0018 a0002c0005 a0003c0008 a0010c0014	a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 others(7): Show a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0002t0008 a0001c0007t0001 a0001c0016t0001 a0001c0018t0001 a0002c0005t0001 a0003c0008t0001 a0010c0014t0001	a0001c0001t0004g0075 a0001c0001t0004g0076 a0001c0001t0005g0060 others(34): Show a0001c0001t0004g0075 a0001c0001t0004g0076 a0001c0001t0005g0060 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0166 a0001c0002t0001g0174 a0001c0002t0001g0177 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0189 a0001c0002t0001g0191 a0001c0002t0001g0193 a0001c0002t0001g0198 a0001c0002t0001g0200 a0001c0002t0001g0202 a0001c0002t0001g0205 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0213 a0001c0002t0001g0221 a0001c0002t0008g0249 a0001c0002t0008g0250 a0001c0007t0001g0172 a0001c0007t0001g0183 a0001c0016t0001g0168 a0001c0018t0001g0162 a0002c0005t0001g0165 a0002c0005t0001g0170 a0002c0005t0001g0199 a0003c0008t0001g0207 a0003c0008t0001g0212 a0010c0014t0001g0195	37	270	0.1370	18	c.178 others(37): Show c.178-15419_178-15402dupGTGTGTGTGTGTGTGTGT		HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	1/75						chr12	TogoVar
HECTD4_chr12_112155195_112387431	112382327	T T	TGCCGCCG others(11): Show TGCCGCCGCCGCCGCCGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0018 a0001c0009t0018	a0001c0009t0018g0268 a0001c0009t0018g0268	1	270	0.0037	18	c.-21 others(27): Show c.-217_-200dupGGCGGCGGCGGCGGCGGC		HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	1/76				200		chr12	TogoVar
HECTD4_chr12_112155195_112387431	112387128	T T	TACACACA others(11): Show TACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG01943.hp1 HG02027.hp1 others(21): Show HG00597.hp2 HG01943.hp1 HG02027.hp1 HG02071.hp2 HG02257.hp1 HG02451.hp2 HG02647.hp2 HG02717.hp2 HG02738.hp1 HG02809.hp2 HG03139.hp2 HG03453.hp2 HG03927.hp1 NA18946.hp2 NA18950.hp2 NA18951.hp1 NA18969.hp2 NA18981.hp1 NA19012.hp2 NA19057.hp1 NA19067.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0030 a0002c0004 a0011c0028	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(8): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0002t0001 a0001c0003t0002 a0001c0030t0007 a0002c0004t0003 a0002c0004t0007 a0011c0028t0006	a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(21): Show a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0004g0069 a0001c0001t0004g0071 a0001c0001t0004g0072 a0001c0001t0004g0075 a0001c0001t0004g0076 a0001c0001t0004g0077 a0001c0001t0005g0060 a0001c0001t0006g0254 a0001c0001t0007g0007 a0001c0001t0007g0025 a0001c0002t0001g0238 a0001c0003t0002g0150 a0001c0030t0007g0035 a0002c0004t0003g0008 a0002c0004t0003g0015 a0002c0004t0003g0052 a0002c0004t0007g0036 a0011c0028t0006g0261	24	270	0.0889	18	c.-50 others(29): Show c.-5001_-5000insGTGTGTGTGTGTGTGTGT		HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding					4698		chr12	TogoVar
HECW1_chr7_43107647_43571001	43210450	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0080 a0001c0002t0001g0080	1	182	0.0055	18	c.-31 others(37): Show c.-31-33415_-31-33398dupTGTGTGTGTGTGTGTGTG		HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	2/29					INFO_REALIGN_3_PRIME	chr7	TogoVar
HECW1_chr7_43107647_43571001	43430779	T T	TTTATTAT others(11): Show TTTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0133 a0003c0008t0001g0133	1	182	0.0055	18	c.802 others(35): Show c.802-7221_802-7204dupATTATTATTATTATTATT		HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	8/29					INFO_REALIGN_3_PRIME	chr7	TogoVar
HECW2_chr2_196189072_196598554	196252178	A A	AAATAATA others(11): Show AAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01361.hp2 HG03195.hp1 HG00733.hp1 HG01361.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0017 a0001c0002t0024 a0001c0010t0018 a0001c0001t0017 a0001c0002t0024 a0001c0010t0018	a0001c0001t0017g0022 a0001c0002t0024g0085 a0001c0010t0018g0043 a0001c0001t0017g0022 a0001c0002t0024g0085 a0001c0010t0018g0043	3	112	0.0268	18	c.352 others(37): Show c.3529+1724_3529+1741dupATTATTATTATTATTATT		HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	19/28						chr2	TogoVar
HECW2_chr2_196189072_196598554	196273049	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0096 a0001c0006t0005g0096	1	112	0.0089	18	c.323 others(35): Show c.3238+954_3238+971dupAAAAAAAAAAAAAAAAAA		HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	16/28						chr2	TogoVar

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