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
HDAC8_chrX_72324516_72577843	72428060	T T	TAGGATTT others(10): Show TAGGATTTAAACCAATAG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0126 a0001c0002t0001g0126	1	208	0.0048	17	c.100 others(38): Show c.1005+33943_1005+33944insCTATTGGTTTAAATCCT	HDAC8	ENSG00000147099.21	transcript	ENST00000373573.9	protein_coding	9/10			chrX	TogoVar
HDAC9_chr7_18490749_19007416	18795257	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02109.hp2 HG02572.hp1 others(2): Show HG01255.hp2 HG02109.hp2 HG02572.hp1 HG02886.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0007 a0001c0001t0035 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0035 a0001c0001t0052 a0001c0004t0006	a0001c0001t0001g0072 a0001c0001t0007g0154 a0001c0001t0035g0054 others(2): Show a0001c0001t0001g0072 a0001c0001t0007g0154 a0001c0001t0035g0054 a0001c0001t0052g0055 a0001c0004t0006g0053	5	156	0.0321	17	c.232 others(36): Show c.2322+1817_2322+1833dupAAAAAAAAAAAAAAAAA	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	17/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18993145	T T	TAGTGACC others(10): Show TAGTGACCTAGGGACAGC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02055.hp2 HG02258.hp1 others(12): Show HG01255.hp2 HG02055.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02559.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG02976.hp1 HG03098.hp1 HG03209.hp2 NA18906.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0007 a0001c0001t0013 a0001c0001t0014 others(9): Show a0001c0001t0007 a0001c0001t0013 a0001c0001t0014 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0002t0007 a0001c0003t0007 a0001c0003t0013 a0001c0004t0014	a0001c0001t0007g0041 a0001c0001t0007g0047 a0001c0001t0007g0151 others(12): Show a0001c0001t0007g0041 a0001c0001t0007g0047 a0001c0001t0007g0151 a0001c0001t0007g0154 a0001c0001t0013g0012 a0001c0001t0014g0017 a0001c0001t0034g0093 a0001c0001t0035g0054 a0001c0001t0036g0136 a0001c0001t0037g0050 a0001c0001t0038g0031 a0001c0002t0007g0027 a0001c0003t0007g0030 a0001c0003t0013g0045 a0001c0004t0014g0058	15	156	0.0962	17	c.317 others(36): Show c.3171-2878_3171-2877insAGTGACCTAGGGACAGC	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	25/25			chr7	TogoVar
HDAC9_chr7_18490749_19007416	18993145	T T	TAGTGACC others(10): Show TAGTGACCTAGGGACAGG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00639.hp1 HG00639.hp2 others(81): Show HG00438.hp2 HG00639.hp1 HG00639.hp2 HG00738.hp2 HG00741.hp2 HG01071.hp1 HG01081.hp1 HG01109.hp1 HG01169.hp1 HG01175.hp2 HG01255.hp1 HG01361.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02040.hp1 HG02056.hp1 HG02109.hp1 HG02129.hp2 HG02145.hp2 HG02273.hp1 HG02273.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02809.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp2 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18939.hp1 NA18970.hp1 NA18971.hp2 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA19007.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(39): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0020 a0001c0001t0021 a0001c0001t0025 a0001c0001t0027 a0001c0001t0031 a0001c0001t0043 a0001c0001t0044 a0001c0001t0047 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0012 a0001c0002t0015 a0001c0002t0017 a0001c0002t0041 a0001c0002t0042 a0001c0002t0045 a0001c0002t0046 a0001c0003t0001 a0001c0003t0005 a0001c0003t0008 a0001c0003t0015 a0001c0003t0021 a0001c0004t0006 a0001c0004t0009 a0001c0004t0012 a0001c0004t0026 a0001c0004t0040 a0001c0004t0055 a0001c0005t0002 a0001c0005t0005 a0001c0006t0008 a0001c0006t0009 a0001c0008t0024	a0001c0001t0001g0014 a0001c0001t0001g0060 a0001c0001t0001g0061 others(81): Show a0001c0001t0001g0014 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0096 a0001c0001t0001g0140 a0001c0001t0003g0002 a0001c0001t0003g0110 a0001c0001t0003g0130 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0156 a0001c0001t0005g0003 a0001c0001t0005g0028 a0001c0001t0005g0076 a0001c0001t0005g0077 a0001c0001t0005g0120 a0001c0001t0005g0143 a0001c0001t0006g0039 a0001c0001t0006g0048 a0001c0001t0006g0142 a0001c0001t0006g0149 a0001c0001t0008g0070 a0001c0001t0009g0125 a0001c0001t0009g0127 a0001c0001t0020g0137 a0001c0001t0020g0141 a0001c0001t0021g0013 a0001c0001t0025g0051 a0001c0001t0027g0057 a0001c0001t0031g0152 a0001c0001t0043g0038 a0001c0001t0044g0008 a0001c0001t0047g0040 a0001c0002t0001g0033 a0001c0002t0001g0044 a0001c0002t0001g0046 a0001c0002t0001g0126 a0001c0002t0001g0135 a0001c0002t0002g0086 a0001c0002t0002g0113 a0001c0002t0003g0063 a0001c0002t0003g0067 a0001c0002t0003g0078 a0001c0002t0003g0080 a0001c0002t0003g0082 a0001c0002t0003g0098 a0001c0002t0003g0108 a0001c0002t0003g0116 a0001c0002t0003g0132 a0001c0002t0005g0092 a0001c0002t0005g0115 a0001c0002t0005g0121 a0001c0002t0005g0124 a0001c0002t0005g0155 a0001c0002t0006g0138 a0001c0002t0012g0049 a0001c0002t0015g0001 a0001c0002t0017g0111 a0001c0002t0017g0112 a0001c0002t0041g0056 a0001c0002t0042g0019 a0001c0002t0045g0035 a0001c0002t0046g0109 a0001c0003t0001g0022 a0001c0003t0001g0052 a0001c0003t0005g0006 a0001c0003t0008g0009 a0001c0003t0008g0146 a0001c0003t0015g0004 a0001c0003t0021g0029 a0001c0004t0006g0053 a0001c0004t0009g0131 a0001c0004t0012g0023 a0001c0004t0026g0043 a0001c0004t0040g0016 a0001c0004t0055g0144 a0001c0005t0002g0105 a0001c0005t0005g0106 a0001c0006t0008g0071 a0001c0006t0009g0042 a0001c0008t0024g0122	84	156	0.5385	17	c.317 others(36): Show c.3171-2878_3171-2877insAGTGACCTAGGGACAGG	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	25/25			chr7	TogoVar
HDGFL2_chr19_4467297_4507207	4484666	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0012 a0012	a0012c0037 a0012c0037	a0012c0037t0004 a0012c0037t0004	a0012c0037t0004g0022 a0012c0037t0004g0022	1	358	0.0028	17	c.289 others(34): Show c.289-4003_289-3987dupTTTTTTTTTTTTTTTTT	HDGFL2	ENSG00000167674.15	transcript	ENST00000616600.5	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr19	TogoVar
HDGFL3_chr15_83122753_83212823	83198054	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA19043.hp1 HG03516.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0053 a0001c0001t0008 a0001c0001t0053	a0001c0001t0008g0018 a0001c0001t0053g0120 a0001c0001t0008g0018 a0001c0001t0053g0120	2	246	0.0081	17	c.84+ others(32): Show c.84+9260_84+9276dupTTTTTTTTTTTTTTTTT	HDGFL3	ENSG00000166503.9	transcript	ENST00000299633.7	protein_coding	1/5			chr15	TogoVar
HDHD3_chr9_113368422_113381986	113381760	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG01081.hp1 HG01081.hp2 others(26): Show HG00558.hp1 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01168.hp2 HG01169.hp1 HG01978.hp2 HG02071.hp2 HG02145.hp1 HG02165.hp1 HG02258.hp2 HG02572.hp1 HG02698.hp1 HG02723.hp1 HG02735.hp1 HG02895.hp1 HG02897.hp1 HG02970.hp1 HG03453.hp2 HG03579.hp1 HG03704.hp2 HG04204.hp2 NA18906.hp2 NA18973.hp1 NA18977.hp1 NA19000.hp1 NA19080.hp2 NA19240.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0002c0002t0004 a0002c0003t0002	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0009 others(10): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0066 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0090 a0001c0001t0005g0021 a0002c0002t0004g0012 a0002c0002t0004g0023 a0002c0003t0002g0019 a0002c0003t0002g0020 a0002c0003t0002g0025	29	464	0.0625	17	c.-53 others(28): Show c.-5323_-5322insAAAAAAAAAAAAAAAAA	HDHD3	ENSG00000119431.10	transcript	ENST00000374180.4	protein_coding		4775		chr9	TogoVar
HDHD5_chr22_17132520_17164277	17157114	A A	ACACACAC others(10): Show ACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0221 a0001c0004t0001g0221	1	422	0.0024	17	c.126 others(34): Show c.126+2011_126+2012insGTGTGTGTGTGTGTGTG	HDHD5	ENSG00000069998.12	transcript	ENST00000336737.8	protein_coding	1/7			chr22	TogoVar
HDX_chrX_84312878_84507453	84476598	G G	GAAAAAGA others(10): Show GAAAAAGAAAAGAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03209.hp1 HG02451.hp2 HG03209.hp1	a0004 a0004	a0004c0008 a0004c0009 a0004c0008 a0004c0009	a0004c0008t0001 a0004c0009t0010 a0004c0008t0001 a0004c0009t0010	a0004c0008t0001g0245 a0004c0009t0010g0244 a0004c0008t0001g0245 a0004c0009t0010g0244	2	269	0.0074	17	c.1-1 others(30): Show c.1-1202_1-1201insTTTTTTCTTTTCTTTTT	HDX	ENSG00000165259.14	transcript	ENST00000373177.3	protein_coding	2/10			chrX	TogoVar
HEATR4_chr14_73473484_73563947	73506804	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTGTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02622.hp1 HG02109.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0246 a0001c0001t0003g0248 a0001c0001t0003g0246 a0001c0001t0003g0248	2	368	0.0054	17	c.188 others(34): Show c.1882-234_1882-233insAACAAAAAAAAAAAAAA	HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	9/17			chr14	TogoVar
HEATR4_chr14_73473484_73563947	73524310	A A	AAAAAAAT others(10): Show AAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03710.hp1 HG03688.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0353 a0001c0001t0004g0354 a0001c0001t0004g0353 a0001c0001t0004g0354	2	368	0.0054	17	c.-72 others(34): Show c.-72-1087_-72-1086insATATATATATATTTTTT	HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	2/17			chr14	TogoVar
HEATR4_chr14_73473484_73563947	73524310	A A	AAATATAT others(10): Show AAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0355 a0001c0001t0004g0355	1	368	0.0027	17	c.-72 others(34): Show c.-72-1087_-72-1086insATATATATATATATATT	HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	2/17			chr14	TogoVar
HEATR4_chr14_73473484_73563947	73524310	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0018 a0018	a0018c0018 a0018c0018	a0018c0018t0011 a0018c0018t0011	a0018c0018t0011g0041 a0018c0018t0011g0041	1	368	0.0027	17	c.-72 others(34): Show c.-72-1087_-72-1086insATATATATATATATATA	HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	2/17			chr14	TogoVar
HECTD1_chr14_31095117_31212793	31134042	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01175.hp2 HG01891.hp1 others(15): Show HG01081.hp2 HG01175.hp2 HG01891.hp1 HG01993.hp2 HG02015.hp1 HG02109.hp2 HG02280.hp2 HG02886.hp2 HG03041.hp1 HG03654.hp1 HG03834.hp2 HG04199.hp2 NA18956.hp2 NA18968.hp1 NA18987.hp1 NA18995.hp1 NA19002.hp2 NA19068.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0008 others(1): Show a0001c0002 a0001c0003 a0001c0008 a0001c0017	a0001c0002t0001 a0001c0002t0010 a0001c0003t0001 others(2): Show a0001c0002t0001 a0001c0002t0010 a0001c0003t0001 a0001c0008t0001 a0001c0017t0009	a0001c0002t0001g0308 a0001c0002t0001g0309 a0001c0002t0001g0310 others(15): Show a0001c0002t0001g0308 a0001c0002t0001g0309 a0001c0002t0001g0310 a0001c0002t0010g0095 a0001c0002t0010g0096 a0001c0003t0001g0236 a0001c0003t0001g0248 a0001c0003t0001g0252 a0001c0003t0001g0260 a0001c0003t0001g0272 a0001c0003t0001g0280 a0001c0003t0001g0286 a0001c0003t0001g0292 a0001c0008t0001g0237 a0001c0008t0001g0283 a0001c0008t0001g0284 a0001c0008t0001g0289 a0001c0017t0009g0018	18	342	0.0526	17	c.357 others(34): Show c.3579-368_3579-367insTTTTTTTTTTTTTTTTT	HECTD1	ENSG00000092148.14	transcript	ENST00000399332.6	protein_coding	22/42			chr14	TogoVar
HECTD4_chr12_112155195_112387431	112189550	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0008 a0001c0038t0008	a0001c0038t0008g0251 a0001c0038t0008g0251	1	270	0.0037	17	c.947 others(36): Show c.9472+1219_9472+1235dupTTTTTTTTTTTTTTTTT	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	60/75			chr12	TogoVar
HECW1_chr7_43107647_43571001	43226697	A A	AGGCCAGG others(10): Show AGGCCAGGGAGCTGCAAG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01884.hp1 HG02109.hp1 others(12): Show HG00639.hp2 HG01884.hp1 HG02109.hp1 HG02451.hp1 HG02451.hp2 HG02572.hp2 HG02615.hp2 HG02895.hp1 HG02922.hp2 HG02976.hp1 HG03195.hp2 HG03209.hp1 HG03486.hp1 HG03486.hp2 NA18906.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0014 a0003c0008 a0004c0015	a0001c0001t0001 a0001c0001t0005 a0001c0001t0018 others(10): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0018 a0001c0002t0001 a0001c0002t0005 a0001c0002t0009 a0001c0002t0027 a0001c0004t0003 a0001c0004t0009 a0001c0006t0002 a0001c0014t0001 a0003c0008t0010 a0004c0015t0001	a0001c0001t0001g0078 a0001c0001t0005g0060 a0001c0001t0005g0163 others(12): Show a0001c0001t0001g0078 a0001c0001t0005g0060 a0001c0001t0005g0163 a0001c0001t0018g0074 a0001c0002t0001g0122 a0001c0002t0005g0167 a0001c0002t0009g0123 a0001c0002t0027g0142 a0001c0004t0003g0077 a0001c0004t0009g0121 a0001c0006t0002g0050 a0001c0014t0001g0091 a0001c0014t0001g0132 a0003c0008t0010g0003 a0004c0015t0001g0176	15	182	0.0824	17	c.-31 others(36): Show c.-31-17174_-31-17173insAGGGAGCTGCAAGGGCC	HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
HECW1_chr7_43107647_43571001	43385259	C C	CCCCTCTC others(10): Show CCCCTCTCCCCTCCCCTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp1 HG01884.hp2 others(6): Show HG01109.hp1 HG01884.hp1 HG01884.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03130.hp2 HG03579.hp1 NA18522.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0012 others(3): Show a0001c0001 a0001c0002 a0001c0012 a0001c0014 a0001c0018 a0004c0011	a0001c0001t0001 a0001c0002t0007 a0001c0002t0023 others(5): Show a0001c0001t0001 a0001c0002t0007 a0001c0002t0023 a0001c0002t0028 a0001c0012t0007 a0001c0014t0001 a0001c0018t0001 a0004c0011t0005	a0001c0001t0001g0117 a0001c0002t0007g0127 a0001c0002t0023g0134 others(6): Show a0001c0001t0001g0117 a0001c0002t0007g0127 a0001c0002t0023g0134 a0001c0002t0028g0173 a0001c0012t0007g0079 a0001c0014t0001g0132 a0001c0018t0001g0129 a0004c0011t0005g0181 a0004c0011t0005g0182	9	182	0.0495	17	c.556 others(36): Show c.556-11539_556-11538insTCCCTCTCCCCTCCCCT	HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	6/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
HECW2_chr2_196189072_196598554	196423715	T T	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	112	0.0089	17	c.292 others(34): Show c.292+9416_292+9417insCACACACACACACACAC	HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	2/28			chr2	TogoVar
HECW2_chr2_196189072_196598554	196437611	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02630.hp2 HG02976.hp1 others(1): Show HG02145.hp2 HG02630.hp2 HG02976.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0016 a0001c0001 a0001c0005 a0001c0016	a0001c0001t0005 a0001c0001t0013 a0001c0005t0012 others(1): Show a0001c0001t0005 a0001c0001t0013 a0001c0005t0012 a0001c0016t0029	a0001c0001t0005g0052 a0001c0001t0013g0063 a0001c0005t0012g0056 others(1): Show a0001c0001t0005g0052 a0001c0001t0013g0063 a0001c0005t0012g0056 a0001c0016t0029g0099	4	112	0.0357	17	c.-35 others(34): Show c.-35-4154_-35-4153insTTTTTTTTTTTTTTTTT	HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	1/28			chr2	TogoVar
HECW2_chr2_196189072_196598554	196500545	T T	TAACAAAG others(10): Show TAACAAAGAACAAAGAAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0039 a0001c0002t0001g0039	1	112	0.0089	17	c.-35 others(36): Show c.-35-67088_-35-67087insGTTCTTTGTTCTTTGTT	HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	1/28			chr2	TogoVar
HELB_chr12_66297493_66343199	66327066	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0001 a0005c0015t0001	a0005c0015t0001g0179 a0005c0015t0001g0179	1	390	0.0026	17	c.267 others(36): Show c.2670+1940_2670+1941insTATATATATATATATAT	HELB	ENSG00000127311.10	transcript	ENST00000247815.9	protein_coding	11/12			chr12	TogoVar
HELLS_chr10_94540788_94607099	94545728	A A	AGCGGGGC others(10): Show AGCGGGGCGGGAGGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 NA18522.hp1 HG02717.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0044 a0001c0001t0001g0045	2	358	0.0056	17	c.-19 others(26): Show c.-194_-193insGCGGGGCGGGAGGGCGG	HELLS	ENSG00000119969.16	transcript	ENST00000348459.10	protein_coding		59		chr10	TogoVar
HELQ_chr4_83402346_83460823	83405907	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0122 a0006c0008t0001g0122	1	316	0.0032	17	c.15 others(28): Show c.1545_*1546insTTTTTTTTTTTTTTTTT	HELQ	ENSG00000163312.11	transcript	ENST00000295488.8	protein_coding		1438		chr4	TogoVar
HELT_chr4_185013490_185025953	185023078	T T	TCTCTCTC others(10): Show TCTCTCTCTCTCTCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 NA18747.hp1 NA18943.hp2 others(2): Show HG01070.hp2 NA18747.hp1 NA18943.hp2 NA19011.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	5	454	0.0110	17	c.23 others(28): Show c.2306_*2307insCTCTCTCTCTCTCTCCC	HELT	ENSG00000187821.9	transcript	ENST00000515777.6	protein_coding		2126		chr4	TogoVar
HELZ_chr17_67065444_67250196	67212314	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01069.hp2 HG01070.hp1 others(20): Show HG00280.hp1 HG01069.hp2 HG01070.hp1 HG01358.hp2 HG01891.hp1 HG01934.hp2 HG02109.hp1 HG02273.hp1 HG02735.hp1 HG02895.hp2 HG02896.hp1 HG03654.hp1 HG03927.hp2 HG04228.hp2 NA18994.hp1 NA19005.hp1 NA19010.hp1 NA19030.hp2 NA19064.hp1 NA19080.hp2 NA19085.hp2 NA19088.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 a0001c0001t0029 a0001c0001t0036 a0001c0001t0054 a0001c0001t0057	a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0176 others(20): Show a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0203 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0231 a0001c0001t0001g0235 a0001c0001t0001g0244 a0001c0001t0002g0217 a0001c0001t0008g0171 a0001c0001t0008g0218 a0001c0001t0010g0174 a0001c0001t0010g0201 a0001c0001t0010g0233 a0001c0001t0029g0219 a0001c0001t0036g0216 a0001c0001t0054g0193 a0001c0001t0057g0221	23	274	0.0839	17	c.247 others(34): Show c.247+3568_247+3584dupTTTTTTTTTTTTTTTTT	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	5/32			chr17	TogoVar
HEMGN_chr9_97921791_97943172	97923065	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	314	0.0032	17	c.43 others(28): Show c.4318_*4319insTTTTTTTTTTTTTTTTT	HEMGN	ENSG00000136929.13	transcript	ENST00000616898.2	protein_coding		3725		chr9	TogoVar
HEPHL1_chr11_94016354_94119208	94042875	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0288 a0001c0001t0001g0288	1	368	0.0027	17	c.171 others(34): Show c.171-2796_171-2780dupAAAAAAAAAAAAAAAAA	HEPHL1	ENSG00000181333.12	transcript	ENST00000315765.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
HEPHL1_chr11_94016354_94119208	94042883	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAACAAAC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	368	0.0027	17	c.171 others(34): Show c.171-2780_171-2779insAACAAACAAAAAAAAAA	HEPHL1	ENSG00000181333.12	transcript	ENST00000315765.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
HEPHL1_chr11_94016354_94119208	94042883	A A	AAAAAACA others(10): Show AAAAAACAAAAAACAAAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(119): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00738.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01106.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01255.hp1 HG01256.hp2 HG01346.hp1 HG01346.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01952.hp1 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02055.hp1 HG02071.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02280.hp2 HG02523.hp2 HG02602.hp1 HG02622.hp2 HG02735.hp1 HG02738.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03654.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp2 NA18940.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18951.hp1 NA18952.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18962.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18975.hp1 NA18979.hp2 NA18981.hp2 NA18984.hp2 NA18990.hp1 NA18991.hp2 NA18992.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp2 NA19010.hp1 NA19010.hp2 NA19057.hp1 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19067.hp1 NA19070.hp2 NA19074.hp1 NA19076.hp2 NA19088.hp1 NA19089.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0003 a0005 others(6): Show a0001 a0003 a0005 a0010 a0012 a0017 a0018 a0020 a0023	a0001c0001 a0001c0006 a0001c0016 others(9): Show a0001c0001 a0001c0006 a0001c0016 a0001c0018 a0003c0003 a0005c0011 a0010c0021 a0012c0035 a0017c0020 a0018c0012 a0020c0022 a0023c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0006t0006 a0001c0016t0002 a0001c0018t0002 a0003c0003t0003 a0005c0011t0001 a0010c0021t0002 a0012c0035t0003 a0017c0020t0002 a0018c0012t0004 a0020c0022t0015 a0023c0019t0001	a0001c0001t0001g0002 a0001c0001t0001g0026 a0001c0001t0001g0039 others(117): Show a0001c0001t0001g0002 a0001c0001t0001g0026 a0001c0001t0001g0039 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0044 a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0002g0165 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0175 a0001c0001t0002g0187 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0219 a0001c0001t0002g0221 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0245 a0001c0001t0002g0248 a0001c0001t0002g0250 a0001c0001t0002g0296 a0001c0001t0003g0003 a0001c0001t0003g0162 a0001c0001t0003g0164 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0193 a0001c0001t0003g0203 a0001c0001t0003g0230 a0001c0001t0003g0236 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0277 a0001c0001t0005g0045 a0001c0001t0005g0185 a0001c0001t0005g0186 a0001c0001t0005g0241 a0001c0001t0005g0244 a0001c0001t0006g0032 a0001c0001t0008g0174 a0001c0001t0008g0229 a0001c0001t0009g0024 a0001c0001t0009g0284 a0001c0001t0009g0285 a0001c0001t0009g0286 a0001c0001t0011g0184 a0001c0001t0011g0192 a0001c0001t0013g0246 a0001c0001t0013g0247 a0001c0001t0016g0235 a0001c0006t0006g0030 a0001c0006t0006g0033 a0001c0006t0006g0038 a0001c0016t0002g0036 a0001c0018t0002g0025 a0003c0003t0003g0183 a0005c0011t0001g0181 a0005c0011t0001g0182 a0010c0021t0002g0179 a0012c0035t0003g0249 a0017c0020t0002g0232 a0018c0012t0004g0287 a0020c0022t0015g0048 a0023c0019t0001g0233	122	368	0.3315	17	c.171 others(34): Show c.171-2785_171-2784insCAAAAAACAAACAAAAA	HEPHL1	ENSG00000181333.12	transcript	ENST00000315765.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
HERC1_chr15_63603618_63838948	63720103	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01168.hp2 HG01169.hp2 others(8): Show HG01106.hp2 HG01168.hp2 HG01169.hp2 HG01433.hp1 HG02109.hp2 HG02293.hp1 HG02630.hp2 HG03540.hp2 HG03654.hp1 NA19030.hp2 NA20300.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0010 a0002c0003 a0004c0007 a0001c0010 a0002c0003 a0004c0007	a0001c0010t0001 a0002c0003t0001 a0002c0003t0002 others(1): Show a0001c0010t0001 a0002c0003t0001 a0002c0003t0002 a0004c0007t0001	a0001c0010t0001g0082 a0001c0010t0001g0086 a0002c0003t0001g0026 others(8): Show a0001c0010t0001g0082 a0001c0010t0001g0086 a0002c0003t0001g0026 a0002c0003t0001g0079 a0002c0003t0001g0081 a0002c0003t0002g0003 a0002c0003t0002g0004 a0002c0003t0002g0015 a0002c0003t0002g0020 a0004c0007t0001g0010 a0004c0007t0001g0013	11	216	0.0509	17	c.374 others(36): Show c.3743-1207_3743-1206insAAAAAAAAAAAAAAAAA	HERC1	ENSG00000103657.14	transcript	ENST00000443617.7	protein_coding	19/77			chr15	TogoVar
HERC1_chr15_63603618_63838948	63821726	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0002 a0002c0018t0002	a0002c0018t0002g0067 a0002c0018t0002g0067	1	216	0.0046	17	c.-27 others(36): Show c.-27+12084_-27+12100dupTTTTTTTTTTTTTTTTT	HERC1	ENSG00000103657.14	transcript	ENST00000443617.7	protein_coding	1/77			chr15	TogoVar
HERC1_chr15_63603618_63838948	63826800	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0108 a0001c0006t0001g0108	1	216	0.0046	17	c.-27 others(34): Show c.-27+7026_-27+7027insATATATATATATATATA	HERC1	ENSG00000103657.14	transcript	ENST00000443617.7	protein_coding	1/77			chr15	TogoVar
HERC1_chr15_63603618_63838948	63826804	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0001 a0001c0026t0001	a0001c0026t0001g0152 a0001c0026t0001g0152	1	216	0.0046	17	c.-27 others(34): Show c.-27+7022_-27+7023insATATATATATATATATA	HERC1	ENSG00000103657.14	transcript	ENST00000443617.7	protein_coding	1/77			chr15	TogoVar
HERC1_chr15_63603618_63838948	63826806	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02735.hp2 NA19030.hp1 HG02735.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0167 a0001c0001t0001g0112 a0001c0001t0001g0167	2	216	0.0093	17	c.-27 others(34): Show c.-27+7020_-27+7021insATATATATATATATATA	HERC1	ENSG00000103657.14	transcript	ENST00000443617.7	protein_coding	1/77			chr15	TogoVar
HERC4_chr10_67916905_68080283	67927430	A A	ATATATAT others(10): Show ATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	360	0.0028	17	c.283 others(36): Show c.2839-2244_2839-2243insAAATATATATATATATA	HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	23/24			chr10	TogoVar
HERC4_chr10_67916905_68080283	68059841	A A	ATTATATA others(10): Show ATTATATATCATAATATT	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	360	0.0028	17	c.226 others(36): Show c.226+13041_226+13042insAATATTATGATATATAA	HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	3/24			chr10	TogoVar
HERC6_chr4_88373852_88448097	88379685	C C	CAAATATA others(10): Show CAAATATATATAATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 NA18522.hp1 HG02895.hp2 HG02897.hp2 NA18522.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0143 a0001c0001t0001g0144 a0004c0004t0001g0145 a0001c0001t0001g0143 a0001c0001t0001g0144 a0004c0004t0001g0145	3	174	0.0172	17	c.199 others(32): Show c.199+574_199+575insTAATATATAAATATATA	HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
HERC6_chr4_88373852_88448097	88379776	T T	TATATATA others(10): Show TATATATATAACATATAA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG02165.hp1 others(5): Show HG01168.hp1 HG01169.hp2 HG02165.hp1 HG02300.hp1 HG03225.hp1 HG03704.hp1 NA18979.hp2 NA18999.hp1	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0001 a0002c0002 a0012c0013 a0001c0001 a0002c0002 a0012c0013	a0001c0001t0001 a0002c0002t0001 a0012c0013t0001 a0001c0001t0001 a0002c0002t0001 a0012c0013t0001	a0001c0001t0001g0152 a0001c0001t0001g0158 a0001c0001t0001g0160 others(5): Show a0001c0001t0001g0152 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0165 a0002c0002t0001g0149 a0012c0013t0001g0163	8	174	0.0460	17	c.199 others(32): Show c.199+667_199+683dupCATATAAATATATATAA	HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
HERC6_chr4_88373852_88448097	88379787	C C	CATATAAA others(10): Show CATATAAATATATATAAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 NA18522.hp1 HG02895.hp2 HG02897.hp2 NA18522.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0143 a0001c0001t0001g0144 a0004c0004t0001g0145 a0001c0001t0001g0143 a0001c0001t0001g0144 a0004c0004t0001g0145	3	174	0.0172	17	c.199 others(32): Show c.199+683_199+699dupATATATAAATATATATA	HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
HERC6_chr4_88373852_88448097	88380026	T T	TATATATA others(10): Show TATATATATAATATATAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0073 a0002c0005t0001g0073	1	174	0.0058	17	c.199 others(32): Show c.199+913_199+914insTAATATATAAATATATA	HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
HEXA_chr15_72335924_72381014	72340874	C C	CACACACA others(10): Show CACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	354	0.0028	17	c.32 others(28): Show c.3202_*3203insTGTGTGTGTGTGTGTGT	HEXA	ENSG00000213614.11	transcript	ENST00000268097.10	protein_coding		49		chr15	TogoVar
HEXD_chr17_82413347_82447645	82433091	A A	AAAAAAAT others(10): Show AAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0118 a0002c0002t0001g0118	1	400	0.0025	17	c.283 others(32): Show c.283-566_283-565insAAAAATATATATATATA	HEXD	ENSG00000169660.17	transcript	ENST00000327949.15	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
HEXD_chr17_82413347_82447645	82433128	A A	ATATATAT others(10): Show ATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0338 a0002c0004t0001g0338	1	400	0.0025	17	c.283 others(32): Show c.283-529_283-528insATATATATATATTTTTT	HEXD	ENSG00000169660.17	transcript	ENST00000327949.15	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
HEXD_chr17_82413347_82447645	82433128	A A	ATATATAT others(10): Show ATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0130 a0002c0002t0001g0130	1	400	0.0025	17	c.283 others(32): Show c.283-529_283-528insATATATATATTTTTTTT	HEXD	ENSG00000169660.17	transcript	ENST00000327949.15	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
HEXD_chr17_82413347_82447645	82441329	A A	AGGGGGCA others(10): Show AGGGGGCAGGTGTGGGTG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02056.hp1 HG00423.hp2 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0311 a0001c0001t0001g0295 a0001c0001t0001g0311	2	400	0.0050	17	c.116 others(32): Show c.1163+66_1163+82dupGGGCAGGTGTGGGTGGG	HEXD	ENSG00000169660.17	transcript	ENST00000327949.15	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
HFM1_chr1_91255766_91409837	91264361	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02258.hp1 HG02273.hp2 others(19): Show HG01106.hp2 HG02258.hp1 HG02273.hp2 HG02622.hp2 HG02723.hp2 HG03130.hp1 HG03225.hp2 NA18945.hp1 NA18946.hp2 NA18954.hp2 NA18959.hp1 NA18960.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp2 NA18992.hp1 NA18993.hp1 NA19043.hp1 NA19064.hp1 NA19074.hp1 NA19080.hp2 NA20129.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0002c0003 a0009c0015 a0001c0001 a0002c0003 a0009c0015	a0001c0001t0001 a0002c0003t0001 a0009c0015t0001 a0001c0001t0001 a0002c0003t0001 a0009c0015t0001	a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0136 others(19): Show a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0136 a0001c0001t0001g0216 a0001c0001t0001g0220 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0235 a0001c0001t0001g0257 a0001c0001t0001g0287 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0002c0003t0001g0327 a0002c0003t0001g0332 a0002c0003t0001g0336 a0002c0003t0001g0342 a0009c0015t0001g0303	22	362	0.0608	17	c.397 others(36): Show c.3974+1639_3974+1655dupAAAAAAAAAAAAAAAAA	HFM1	ENSG00000162669.16	transcript	ENST00000370425.8	protein_coding	36/38			chr1	TogoVar
HFM1_chr1_91255766_91409837	91319012	T T	TACTAACA others(10): Show TACTAACAGTGAATACAA	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0274	1	362	0.0028	17	c.281 others(32): Show c.2812+49_2812+65dupTTGTATTCACTGTTAGT	HFM1	ENSG00000162669.16	transcript	ENST00000370425.8	protein_coding	25/38			chr1	TogoVar
HFM1_chr1_91255766_91409837	91364632	A A	ATATATAT others(10): Show ATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0046 a0001c0002t0001g0046	1	362	0.0028	17	c.168 others(38): Show c.1685+10725_1685+10726insAAAAATATATATATATA	HFM1	ENSG00000162669.16	transcript	ENST00000370425.8	protein_coding	13/38			chr1	TogoVar
HFM1_chr1_91255766_91409837	91364632	A A	ATATATAT others(10): Show ATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0039 a0001c0002t0001g0039	1	362	0.0028	17	c.168 others(38): Show c.1685+10725_1685+10726insAAAAAAATATATATATA	HFM1	ENSG00000162669.16	transcript	ENST00000370425.8	protein_coding	13/38			chr1	TogoVar
HGSNAT_chr8_43135464_43207855	43195655	T T	TGGAGGAG others(10): Show TGGAGGAGGAGGAGTAGA	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0170 a0001c0001t0012g0170	1	234	0.0043	17	c.146 others(36): Show c.1465-1280_1465-1279insTAGAGGAGGAGGAGGAG	HGSNAT	ENSG00000165102.15	transcript	ENST00000379644.9	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr8	TogoVar

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