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
ADAM9_chr8_38991973_39110261	39045384	A A	ATGTGCGT others(23): Show ATGTGCGTGTGTGTACACACACCTATATGTG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03139.hp2 HG03516.hp1 HG02965.hp1 HG03139.hp2 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0131 a0002c0002t0002g0192 a0002c0002t0002g0193 a0001c0001t0001g0131 a0002c0002t0002g0192 a0002c0002t0002g0193	3	255	0.0118	30	c.130 others(49): Show c.1302+3267_1302+3268insTGTGCGTGTGTGTACACACACCTATA TGTG	ADAM9	ENSG00000168615.13	transcript	ENST00000487273.7	protein_coding	12/21			chr8	TogoVar
ADAMDEC1_chr8_24379285_24411013	24400632	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0047 a0004c0005t0002g0047	2	295	0.0068	30	c.114 others(47): Show c.1142+352_1142+353insATATATATATATATATATATATATATAT AT	ADAMDEC1	ENSG00000134028.14	transcript	ENST00000256412.8	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADAMTS14_chr10_70667506_70767441	70688843	C C	CGGAGGGA others(23): Show CGGAGGGAGAGGGGGAGGGGGAGGGGGAGGG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0003 a0003	a0003c0028 a0003c0028	a0003c0028t0007 a0003c0028t0007	a0003c0028t0007g0046 a0003c0028t0007g0046	1	313	0.0032	30	c.523 others(49): Show c.523-13463_523-13462insAGAGGGGGAGGGGGAGGGGGAGGGGG AGGG	ADAMTS14	ENSG00000138316.11	transcript	ENST00000373207.2	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADAMTS14_chr10_70667506_70767441	70688844	G G	GTGGGGCG others(23): Show GTGGGGCGAGGGCGAGGGCGAGGGCGAGGGC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00597.hp1 HG00738.hp1 others(15): Show HG00323.hp1 HG00597.hp1 HG00738.hp1 HG01109.hp2 HG01167.hp2 HG01255.hp1 HG02055.hp2 HG02074.hp2 HG02132.hp1 HG02280.hp1 HG02886.hp2 HG03139.hp1 HG03239.hp1 HG03492.hp2 HG03927.hp1 NA18747.hp1 NA18971.hp2 NA19065.hp2	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0005 a0006 a0020	a0001c0002 a0001c0004 a0001c0007 others(11): Show a0001c0002 a0001c0004 a0001c0007 a0001c0012 a0001c0018 a0001c0032 a0001c0035 a0001c0038 a0003c0076 a0004c0006 a0004c0010 a0005c0009 a0006c0073 a0020c0056	a0001c0002t0018 a0001c0002t0041 a0001c0004t0009 others(14): Show a0001c0002t0018 a0001c0002t0041 a0001c0004t0009 a0001c0007t0021 a0001c0012t0009 a0001c0018t0040 a0001c0032t0004 a0001c0035t0002 a0001c0038t0009 a0003c0076t0009 a0004c0006t0004 a0004c0006t0029 a0004c0010t0002 a0005c0009t0008 a0005c0009t0009 a0006c0073t0017 a0020c0056t0039	a0001c0002t0018g0040 a0001c0002t0041g0025 a0001c0004t0009g0030 others(15): Show a0001c0002t0018g0040 a0001c0002t0041g0025 a0001c0004t0009g0030 a0001c0007t0021g0032 a0001c0012t0009g0007 a0001c0018t0040g0044 a0001c0032t0004g0233 a0001c0035t0002g0245 a0001c0038t0009g0029 a0003c0076t0009g0028 a0004c0006t0004g0187 a0004c0006t0004g0234 a0004c0006t0029g0027 a0004c0010t0002g0285 a0005c0009t0008g0061 a0005c0009t0009g0022 a0006c0073t0017g0033 a0020c0056t0039g0031	18	253	0.0711	30	c.523 others(49): Show c.523-13468_523-13467insTGGGGCGAGGGCGAGGGCGAGGGCGA GGGC	ADAMTS14	ENSG00000138316.11	transcript	ENST00000373207.2	protein_coding	2/21			chr10	TogoVar
ADAMTS14_chr10_70667506_70767441	70759132	T T	TTTTTTTT others(23): Show TTTTTTTTTTTTTTTTTTTTGAGACGGAGTC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01168.hp1 HG01258.hp2 others(8): Show HG01070.hp1 HG01168.hp1 HG01258.hp2 HG01515.hp1 HG02698.hp1 HG03492.hp1 NA18954.hp2 NA18960.hp1 NA19058.hp1 NA19065.hp2 NA20805.hp1	a0001 a0004 a0033 a0001 a0004 a0033	a0001c0002 a0001c0007 a0001c0026 others(4): Show a0001c0002 a0001c0007 a0001c0026 a0001c0033 a0001c0035 a0004c0010 a0033c0053	a0001c0002t0002 a0001c0002t0020 a0001c0007t0002 others(6): Show a0001c0002t0002 a0001c0002t0020 a0001c0007t0002 a0001c0007t0021 a0001c0026t0002 a0001c0033t0018 a0001c0035t0002 a0004c0010t0002 a0033c0053t0024	a0001c0002t0002g0132 a0001c0002t0002g0316 a0001c0002t0020g0015 others(8): Show a0001c0002t0002g0132 a0001c0002t0002g0316 a0001c0002t0020g0015 a0001c0007t0002g0151 a0001c0007t0002g0248 a0001c0007t0021g0042 a0001c0026t0002g0323 a0001c0033t0018g0038 a0001c0035t0002g0245 a0004c0010t0002g0268 a0033c0053t0024g0194	11	174	0.0632	30	c.317 others(47): Show c.3178+848_3178+849insTTTTTTTTTTTTTTTTTTGAGACGGAGT CT	ADAMTS14	ENSG00000138316.11	transcript	ENST00000373207.2	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADAMTS15_chr11_130443645_130481645	130470133	C C	CATATATA others(23): Show CATATATATATATATATATGTGTATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0249 a0001c0001t0008g0249	1	333	0.0030	30	c.172 others(47): Show c.1720+717_1721-735dupATATATATATATATATATATATATATGT GT	ADAMTS15	ENSG00000166106.4	transcript	ENST00000299164.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
ADAMTS17_chr15_99966437_100346975	100119043	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01167.hp1 HG01358.hp1 others(8): Show HG01070.hp1 HG01167.hp1 HG01358.hp1 HG01516.hp2 HG02004.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG03195.hp2 NA19056.hp2 NA20805.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0007	a0001c0005 a0001c0007 a0002c0004 others(6): Show a0001c0005 a0001c0007 a0002c0004 a0002c0061 a0003c0006 a0003c0019 a0004c0003 a0004c0008 a0007c0023	a0001c0005t0009 a0001c0005t0011 a0001c0007t0018 others(7): Show a0001c0005t0009 a0001c0005t0011 a0001c0007t0018 a0002c0004t0007 a0002c0061t0011 a0003c0006t0003 a0003c0019t0001 a0004c0003t0001 a0004c0008t0001 a0007c0023t0001	a0001c0005t0009g0030 a0001c0005t0011g0179 a0001c0007t0018g0045 others(8): Show a0001c0005t0009g0030 a0001c0005t0011g0179 a0001c0007t0018g0045 a0002c0004t0007g0204 a0002c0061t0011g0091 a0003c0006t0003g0027 a0003c0019t0001g0217 a0004c0003t0001g0172 a0004c0008t0001g0100 a0007c0023t0001g0072 a0007c0023t0001g0206	11	158	0.0696	30	c.172 others(49): Show c.1722-2031_1722-2030insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	12/21			chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	100140488	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02698.hp1 HG00621.hp2 HG02698.hp1	a0001 a0006 a0001 a0006	a0001c0017 a0006c0016 a0001c0017 a0006c0016	a0001c0017t0037 a0006c0016t0058 a0001c0017t0037 a0006c0016t0058	a0001c0017t0037g0047 a0006c0016t0058g0096 a0001c0017t0037g0047 a0006c0016t0058g0096	2	27	0.0741	30	c.147 others(49): Show c.1474-7174_1474-7173insATATATATATATATATATATATATAT ATAT	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	10/21			chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	100255617	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02572.hp2 HG02451.hp2 HG02572.hp2	a0004 a0005 a0004 a0005	a0004c0003 a0005c0044 a0004c0003 a0005c0044	a0004c0003t0003 a0005c0044t0013 a0004c0003t0003 a0005c0044t0013	a0004c0003t0003g0012 a0005c0044t0013g0005 a0004c0003t0003g0012 a0005c0044t0013g0005	2	40	0.0500	30	c.103 others(49): Show c.1032-1439_1032-1438insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	6/21			chr15	TogoVar
ADAMTS18_chr16_77277128_77440034	77314753	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00621.hp2 others(23): Show HG00408.hp1 HG00423.hp1 HG00621.hp2 HG00735.hp1 HG01884.hp2 HG02015.hp2 HG02040.hp2 HG02074.hp2 HG02148.hp1 HG02602.hp2 HG02738.hp2 HG02886.hp1 HG03017.hp2 HG03041.hp1 HG03710.hp1 HG04184.hp2 NA18954.hp2 NA18957.hp2 NA18962.hp2 NA18971.hp1 NA18975.hp1 NA19000.hp1 NA19004.hp2 NA19005.hp1 NA19012.hp1 NA21309.hp2	a0001 a0003 a0004 others(9): Show a0001 a0003 a0004 a0006 a0007 a0008 a0009 a0010 a0014 a0024 a0032 a0035	a0001c0001 a0001c0024 a0003c0002 others(11): Show a0001c0001 a0001c0024 a0003c0002 a0004c0003 a0006c0005 a0007c0010 a0008c0008 a0009c0009 a0010c0013 a0010c0019 a0014c0015 a0024c0028 a0032c0064 a0035c0044	a0001c0001t0002 a0001c0024t0021 a0003c0002t0006 others(15): Show a0001c0001t0002 a0001c0024t0021 a0003c0002t0006 a0003c0002t0007 a0004c0003t0005 a0006c0005t0004 a0006c0005t0012 a0007c0010t0003 a0008c0008t0004 a0009c0009t0001 a0010c0013t0006 a0010c0013t0010 a0010c0019t0006 a0010c0019t0024 a0014c0015t0001 a0024c0028t0030 a0032c0064t0001 a0035c0044t0004	a0001c0001t0002g0046 a0001c0001t0002g0141 a0001c0024t0021g0304 others(23): Show a0001c0001t0002g0046 a0001c0001t0002g0141 a0001c0024t0021g0304 a0003c0002t0006g0015 a0003c0002t0006g0210 a0003c0002t0006g0214 a0003c0002t0007g0048 a0004c0003t0005g0122 a0006c0005t0004g0036 a0006c0005t0004g0076 a0006c0005t0012g0056 a0007c0010t0003g0099 a0008c0008t0004g0190 a0009c0009t0001g0022 a0009c0009t0001g0124 a0009c0009t0001g0129 a0009c0009t0001g0170 a0009c0009t0001g0286 a0010c0013t0006g0166 a0010c0013t0010g0148 a0010c0019t0006g0100 a0010c0019t0024g0060 a0014c0015t0001g0203 a0024c0028t0030g0306 a0032c0064t0001g0208 a0035c0044t0004g0114	26	81	0.3210	30	c.253 others(49): Show c.2532+5066_2532+5095dupATATATATATATATATATATATATAT ATAT	ADAMTS18	ENSG00000140873.16	transcript	ENST00000282849.10	protein_coding	16/22			chr16	TogoVar
ADAMTS18_chr16_77277128_77440034	77314753	C C	CTTATATA others(23): Show CTTATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03831.hp2 HG03453.hp1 HG03831.hp2	a0002 a0004 a0002 a0004	a0002c0057 a0004c0003 a0002c0057 a0004c0003	a0002c0057t0003 a0004c0003t0005 a0002c0057t0003 a0004c0003t0005	a0002c0057t0003g0158 a0004c0003t0005g0007 a0002c0057t0003g0158 a0004c0003t0005g0007	2	57	0.0351	30	c.253 others(49): Show c.2532+5095_2532+5096insATATATATATATATATATATATATAT ATAA	ADAMTS18	ENSG00000140873.16	transcript	ENST00000282849.10	protein_coding	16/22			chr16	TogoVar
ADAMTS19_chr5_129455298_129743683	129549874	A A	ATGTATCT others(23): Show ATGTATCTAGATATACATATACATGTATCTG	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02165.hp1 HG02083.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0200 a0001c0001t0001g0158 a0001c0001t0001g0200	2	224	0.0089	30	c.132 others(49): Show c.1329-1989_1329-1988insGTATCTAGATATACATATACATGTAT CTGT	ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADAMTS19_chr5_129455298_129743683	129608116	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02976.hp1 HG02622.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0041 a0001c0001t0001g0033 a0001c0001t0001g0041	2	70	0.0286	30	c.147 others(51): Show c.1478+11476_1478+11477insTATATATATATATATATATATATA TATATA	ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADAMTS19_chr5_129455298_129743683	129608116	G G	GTGTGTAT others(23): Show GTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	69	0.0145	30	c.147 others(51): Show c.1478+11453_1478+11454insGTGTATATATATATATATATATAT ATATAT	ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADAMTS19_chr5_129455298_129743683	129645885	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0224 a0001c0001t0002g0224	1	41	0.0244	30	c.187 others(49): Show c.1873-1859_1873-1858insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	11/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADAMTS19_chr5_129455298_129743683	129658343	A A	AAGAAAGA others(23): Show AAGAAAGAAAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	211	0.0047	30	c.230 others(47): Show c.2305-263_2305-262insGAGAGAGAGAGAGAGAGAGAGAAAGAAA GA	ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	14/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADAMTS19_chr5_129455298_129743683	129658347	A A	AAGAGAGA others(23): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0221 a0001c0001t0005g0221	1	198	0.0051	30	c.230 others(47): Show c.2305-267_2305-266insGAGAGAGAGAGAGAGAGAGAGAGAGAGA GA	ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	14/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADAMTS19_chr5_129455298_129743683	129658351	A A	AAGAAAGA others(23): Show AAGAAAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0065 a0002c0002t0001g0065	1	199	0.0050	30	c.230 others(47): Show c.2305-259_2305-258insGAGAGAGAGAGAGAGAGAGAGAGAGAAA GA	ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	14/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADAMTS20_chr12_43348866_43557203	43420800	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	17	0.0588	30	c.428 others(49): Show c.4284+4713_4284+4714insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	28/38			chr12	TogoVar
ADAMTS20_chr12_43348866_43557203	43460988	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	44	0.0227	30	c.161 others(49): Show c.1614+1906_1614+1907insAAAAAATATATATATATATATATATA TATA	ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	11/38			chr12	TogoVar
ADAMTS20_chr12_43348866_43557203	43460988	A A	ATATATAT others(23): Show ATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA19011.hp1 NA18945.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0228 a0001c0001t0001g0229	2	45	0.0444	30	c.161 others(49): Show c.1614+1906_1614+1907insAAAAAAAATATATATATATATATATA TATA	ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	11/38			chr12	TogoVar
ADAMTS20_chr12_43348866_43557203	43460988	A A	ATATATAT others(23): Show ATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA18979.hp1 NA19004.hp2 HG02559.hp1 NA18979.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0042 a0001c0001t0001g0087 a0001c0001t0001g0026 a0001c0001t0001g0042 a0001c0001t0001g0087	3	46	0.0652	30	c.161 others(49): Show c.1614+1906_1614+1907insAAAAAAAAAATATATATATATATATA TATA	ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	11/38			chr12	TogoVar
ADAMTS3_chr4_72275969_72574221	72530081	T T	TATAATAT others(23): Show TATAATATAATATTATATATTATATATTATA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0034 a0001c0003t0002g0034	1	133	0.0075	30	c.504 others(49): Show c.504+18396_504+18397insTATAATATATAATATATAATATTATA TTAT	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72550002	A A	AAGGAGAA others(23): Show AAGGAGAAGGAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	179	0.0056	30	c.98- others(45): Show c.98-1119_98-1118insCCTTCTCCTTCTCCTTCTCCTCCTTCTCCT	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	2/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72550008	A A	AAGGAGAA others(23): Show AAGGAGAAGGAGAAGGAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0108 a0001c0001t0017g0108	1	155	0.0065	30	c.98- others(45): Show c.98-1125_98-1124insCCTTCTCCTTCTCCTCCTTCTCCTTCTCCT	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	2/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72550011	A A	AAGGAGAA others(23): Show AAGGAGAAGGAGAAGGAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02258.hp1 HG01243.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0038 a0001c0001t0001g0039	2	175	0.0114	30	c.98- others(45): Show c.98-1128_98-1127insCCTTCTCCTTCTCCTCCTTCTCCTTCTCCT	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	2/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72550014	A A	AAGGAGAA others(23): Show AAGGAGAAGGAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA20300.hp2 HG02572.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0162 a0001c0003t0001g0107 a0001c0001t0001g0162 a0001c0003t0001g0107	2	136	0.0147	30	c.98- others(45): Show c.98-1131_98-1130insCCTTCTCCTTCTCCTTCTCCTCCTTCTCCT	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	2/21			chr4	TogoVar
ADAMTS4_chr1_161179302_161204054	161188883	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00423.hp2 HG00639.hp2 HG01074.hp1 others(20): Show HG00423.hp2 HG00639.hp2 HG01074.hp1 HG01168.hp2 HG01952.hp2 HG02056.hp2 HG02273.hp2 HG02300.hp1 HG02486.hp1 HG02572.hp1 HG02602.hp2 HG03927.hp1 NA18522.hp2 NA18612.hp1 NA18950.hp1 NA18954.hp2 NA18964.hp1 NA18971.hp2 NA18981.hp1 NA18983.hp2 NA18990.hp2 NA19030.hp2 NA19068.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0002c0010 a0005c0009	a0001c0001t0022 a0001c0001t0023 a0001c0001t0042 others(15): Show a0001c0001t0022 a0001c0001t0023 a0001c0001t0042 a0001c0001t0104 a0001c0001t0118 a0001c0001t0119 a0001c0001t0120 a0001c0001t0121 a0001c0001t0122 a0001c0001t0124 a0001c0001t0163 a0001c0002t0055 a0001c0002t0123 a0001c0002t0195 a0001c0002t0209 a0001c0006t0023 a0002c0010t0082 a0005c0009t0181	a0001c0001t0022g0026 a0001c0001t0022g0139 a0001c0001t0023g0028 others(16): Show a0001c0001t0022g0026 a0001c0001t0022g0139 a0001c0001t0023g0028 a0001c0001t0042g0027 a0001c0001t0104g0070 a0001c0001t0118g0084 a0001c0001t0119g0085 a0001c0001t0120g0086 a0001c0001t0121g0087 a0001c0001t0122g0063 a0001c0001t0124g0088 a0001c0001t0163g0125 a0001c0002t0055g0043 a0001c0002t0123g0159 a0001c0002t0195g0192 a0001c0002t0209g0232 a0001c0006t0023g0133 a0002c0010t0082g0164 a0005c0009t0181g0249	23	85	0.2706	30	c.22 others(41): Show c.2254_*2255insATATATATATATATATATATATATATATAT	ADAMTS4	ENSG00000158859.10	transcript	ENST00000367996.6	protein_coding	9/9	2254		chr1	TogoVar
ADAMTS4_chr1_161179302_161204054	161188883	A A	AATATATA others(23): Show AATATATATATATATATATATCTATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0177 a0002c0003t0177	a0002c0003t0177g0177 a0002c0003t0177g0177	1	63	0.0159	30	c.22 others(41): Show c.2254_*2255insATATATATAGATATATATATATATATATAT	ADAMTS4	ENSG00000158859.10	transcript	ENST00000367996.6	protein_coding	9/9	2254		chr1	TogoVar
ADAMTS4_chr1_161179302_161204054	161188897	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0161 a0001c0001t0161	a0001c0001t0161g0123 a0001c0001t0161g0123	1	372	0.0027	30	c.22 others(41): Show c.2240_*2241insGTATATATATATATATATATATATATATAT	ADAMTS4	ENSG00000158859.10	transcript	ENST00000367996.6	protein_coding	9/9	2240		chr1	TogoVar
ADAMTS9_chr3_64510654_64693000	64673010	T T	TGTAGCCT others(23): Show TGTAGCCTAGGAACAATAGGCTATGTACCAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01978.hp2 HG02055.hp1 others(20): Show HG00099.hp2 HG01978.hp2 HG02055.hp1 HG02258.hp2 HG02486.hp1 HG02622.hp2 HG02723.hp2 HG02922.hp1 HG02970.hp2 HG03225.hp1 HG03688.hp1 HG04115.hp1 HG04115.hp2 HG06807.hp2 NA18953.hp2 NA18957.hp1 NA18995.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19072.hp1 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0009	a0001c0001 a0001c0004 a0001c0006 others(5): Show a0001c0001 a0001c0004 a0001c0006 a0001c0007 a0002c0002 a0003c0003 a0009c0029 a0009c0047	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0004t0002 a0001c0006t0001 a0001c0007t0001 a0002c0002t0003 a0003c0003t0002 a0009c0029t0002 a0009c0047t0001	a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 others(20): Show a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0235 a0001c0001t0001g0251 a0001c0001t0002g0118 a0001c0001t0002g0241 a0001c0001t0002g0248 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0004t0001g0061 a0001c0004t0001g0236 a0001c0004t0001g0238 a0001c0004t0001g0239 a0001c0004t0001g0242 a0001c0004t0001g0257 a0001c0004t0002g0240 a0001c0006t0001g0117 a0001c0007t0001g0017 a0002c0002t0003g0196 a0003c0003t0002g0060 a0009c0029t0002g0237 a0009c0047t0001g0274	23	284	0.0810	30	c.679 others(47): Show c.679+8161_679+8190dupGTGGTACATAGCCTATTGTTCCTAGGCT AC	ADAMTS9	ENSG00000163638.13	transcript	ENST00000498707.5	protein_coding	3/39			chr3	TogoVar
ADAMTSL1_chr9_18469153_18915950	18503421	G G	GTGTATAT others(23): Show GTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA18994.hp1 HG03195.hp2 NA18994.hp1	a0002 a0022 a0002 a0022	a0002c0001 a0022c0033 a0002c0001 a0022c0033	a0002c0001t0001 a0022c0033t0024 a0002c0001t0001 a0022c0033t0024	a0002c0001t0001g0210 a0022c0033t0024g0165 a0002c0001t0001g0210 a0022c0033t0024g0165	2	111	0.0180	30	c.64- others(45): Show c.64-1407_64-1406insGTATATATATATATATATATATATATATAT	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18503421	G G	GTGTGTAT others(23): Show GTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0211 a0001c0003t0005g0211	1	110	0.0091	30	c.64- others(45): Show c.64-1407_64-1406insGTGTATATATATATATATATATATATATAT	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18688687	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0011 a0001c0005t0003g0011	1	186	0.0054	30	c.157 others(49): Show c.1574+3888_1574+3889insTATATATATATATATATATATATATA TATA	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	13/28		INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18688689	A A	AAAAAAAA others(23): Show AAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0006 a0006	a0006c0073 a0006c0073	a0006c0073t0008 a0006c0073t0008	a0006c0073t0008g0071 a0006c0073t0008g0071	1	33	0.0303	30	c.157 others(49): Show c.1574+3890_1574+3891insAAAAAAAATATATATATATATATATA TATA	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	13/28		INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18688689	A A	AAAAAATA others(23): Show AAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0057 a0001c0057	a0001c0057t0002 a0001c0057t0002	a0001c0057t0002g0001 a0001c0057t0002g0001	1	33	0.0303	30	c.157 others(49): Show c.1574+3890_1574+3891insAAAATATATATATATATATATATATA TATA	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	13/28		INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18688689	A A	AAAATATA others(23): Show AAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 NA19058.hp2 HG00099.hp1 NA19058.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0003c0011 a0001c0003 a0003c0011	a0001c0003t0029 a0003c0011t0007 a0001c0003t0029 a0003c0011t0007	a0001c0003t0029g0025 a0003c0011t0007g0183 a0001c0003t0029g0025 a0003c0011t0007g0183	2	34	0.0588	30	c.157 others(49): Show c.1574+3890_1574+3891insAATATATATATATATATATATATATA TATA	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	13/28		INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18688704	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0046 a0001c0002t0004g0046	1	143	0.0070	30	c.157 others(49): Show c.1574+3909_1574+3910insATATATATATATATATATATATATCT ATAT	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	13/28		INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18866116	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0003 a0006c0014t0003	a0006c0014t0003g0027 a0006c0014t0003g0027	1	52	0.0192	30	c.425 others(51): Show c.4250-21701_4250-21700insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	23/28		INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAMTSL3_chr15_83649123_84044842	83674766	C C	CATATATA others(23): Show CATATATACACACATATATACATACATATAT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0015 a0015	a0015c0018 a0015c0018	a0015c0018t0001 a0015c0018t0001	a0015c0018t0001g0147 a0015c0018t0001g0147	1	107	0.0093	30	c.69+ others(47): Show c.69+18943_69+18944insCACACATATATACATACATATATATATA TA	ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
ADAMTSL3_chr15_83649123_84044842	83674766	C C	CATATATA others(23): Show CATATATACACACATATATACATATATATAT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0005 a0005	a0005c0017 a0005c0017	a0005c0017t0001 a0005c0017t0001	a0005c0017t0001g0141 a0005c0017t0001g0141	1	107	0.0093	30	c.69+ others(47): Show c.69+18943_69+18944insCACACATATATACATATATATATATATA TA	ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
ADAMTSL3_chr15_83649123_84044842	83674766	C C	CATATATA others(23): Show CATATATACATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0132 a0002c0002t0001g0132	1	107	0.0093	30	c.69+ others(47): Show c.69+18943_69+18944insCATATATATATATATATATATATATATA TA	ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
ADAMTSL3_chr15_83649123_84044842	83903922	A A	AGGAAGGA others(23): Show AGGAAGGAAGGGAGGGAGGGAGGGAGGGAGG	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	190	0.0053	30	c.170 others(49): Show c.1700+4191_1700+4192insGGAAGGAAGGGAGGGAGGGAGGGAGG GAGG	ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	15/29			chr15	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500696	G G	GAAAAAAA others(23): Show GAAAAAAAAAAAAAAAAAAAGAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0083 a0001c0001t0022g0083	1	255	0.0039	30	c.53 others(41): Show c.5318_*5319insTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4325		chr19	TogoVar
ADARB1_chr21_45069580_45231560	45074598	T T	TGGCGGCG others(23): Show TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02165.hp1 HG03239.hp1 NA19004.hp1 HG02165.hp1 HG03239.hp1 NA19004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0181 a0001c0002t0024g0184 a0001c0002t0024g0187 a0001c0002t0024g0181 a0001c0002t0024g0184 a0001c0002t0024g0187	3	266	0.0113	30	c.-39 others(39): Show c.-391_-390insGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	ADARB1	ENSG00000197381.18	transcript	ENST00000348831.9	protein_coding	1/11	97034	INFO_REALIGN_3_PRIME	chr21	TogoVar
ADARB2_chr10_1172313_1742525	1514178	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA18982.hp2 HG03669.hp1 NA18982.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0003 a0004c0005t0002 a0001c0001t0003 a0004c0005t0002	a0001c0001t0003g0098 a0004c0005t0002g0039 a0001c0001t0003g0098 a0004c0005t0002g0039	2	11	0.1818	30	c.101 others(51): Show c.101-135019_101-135018insATATATATATATATATATATATAT ATATAT	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1544956	T T	TATACACA others(23): Show TATACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0066 a0001c0007t0066	a0001c0007t0066g0105 a0001c0007t0066g0105	1	10	0.1000	30	c.101 others(51): Show c.101-165797_101-165796insGTGTGTGTGTGTGTGTGTGTGTGT GTGTAT	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADAT1_chr16_75591868_75628281	75624114	C C	CATATATA others(23): Show CATATATATATATGTGTGTGTGTGTGTGTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0021 a0003c0004t0021	a0003c0004t0021g0311 a0003c0004t0021g0311	1	333	0.0030	30	c.-17 others(41): Show c.-1734_-1733insATACACACACACACACACATATATATATAT	ADAT1	ENSG00000065457.11	transcript	ENST00000564657.2	protein_coding		834		chr16	TogoVar
ADAT2_chr6_143417832_143455695	143427096	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02165.hp1 NA18945.hp1 NA18954.hp2 others(1): Show HG02165.hp1 NA18945.hp1 NA18954.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 others(1): Show a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066	a0001c0001t0063g0092 a0001c0001t0064g0113 a0001c0001t0065g0114 others(1): Show a0001c0001t0063g0092 a0001c0001t0064g0113 a0001c0001t0065g0114 a0001c0001t0066g0115	4	25	0.1600	30	c.13 others(41): Show c.1337_*1366dupGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	ADAT2	ENSG00000189007.16	transcript	ENST00000237283.9	protein_coding	6/6	1366		chr6	TogoVar
ADAT2_chr6_143417832_143455695	143455171	A A	ATTTTCTT others(23): Show ATTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG03195.hp1 HG06807.hp2 others(3): Show HG02809.hp1 HG03195.hp1 HG06807.hp2 NA18906.hp2 NA19030.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0100 a0001c0001t0102 a0002c0002t0020 others(2): Show a0001c0001t0100 a0001c0001t0102 a0002c0002t0020 a0002c0002t0037 a0002c0002t0118	a0001c0001t0100g0068 a0001c0001t0102g0062 a0002c0002t0020g0078 others(3): Show a0001c0001t0100g0068 a0001c0001t0102g0062 a0002c0002t0020g0078 a0002c0002t0037g0080 a0002c0002t0037g0083 a0002c0002t0118g0077	6	89	0.0674	30	c.-45 others(41): Show c.-4543_-4514dupGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA	ADAT2	ENSG00000189007.16	transcript	ENST00000237283.9	protein_coding		4477		chr6	TogoVar

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