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
INSR_chr19_7107265_7299414	7136828	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0050 a0001c0050	a0001c0050t0026 a0001c0050t0026	a0001c0050t0026g0080 a0001c0050t0026g0080	1	300	0.0033	30	c.268 others(49): Show c.2683-4512_2683-4511insATATATATATATATATATATATATAT ATAT	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	13/21			chr19	TogoVar
INSR_chr19_7107265_7299414	7197514	G G	GGAGTGGG others(23): Show GGAGTGGGGGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0050 a0001c0050	a0001c0050t0026 a0001c0050t0026	a0001c0050t0026g0080 a0001c0050t0026g0080	1	300	0.0033	30	c.653 others(49): Show c.653-12878_653-12877insACACACACACACACACACACACCCCC ACTC	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	2/21			chr19	TogoVar
INSR_chr19_7107265_7299414	7197514	G G	GGTGTGTG others(23): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0093 a0001c0004t0003g0094 a0001c0004t0003g0093 a0001c0004t0003g0094	2	300	0.0067	30	c.653 others(49): Show c.653-12878_653-12877insACACACACACACACACACACACACAC ACAC	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	2/21			chr19	TogoVar
INSYN1_chr15_73730458_73758351	73745810	A A	AAAAACAA others(23): Show AAAAACAAAACAAAACAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02258.hp2 HG02818.hp2 others(4): Show HG01496.hp2 HG02258.hp2 HG02818.hp2 HG02922.hp2 HG02970.hp2 HG03516.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0019 a0001c0001t0016 a0001c0001t0019	a0001c0001t0016g0016 a0001c0001t0019g0053 a0001c0001t0019g0139 a0001c0001t0016g0016 a0001c0001t0019g0053 a0001c0001t0019g0139	7	406	0.0172	30	c.156 others(47): Show c.156+5164_156+5165insGTTTTGTTTTGTTTTGTTTTGTTTTGTT TT	INSYN1	ENSG00000205363.7	transcript	ENST00000569673.3	protein_coding	2/2			chr15	TogoVar
INS_chr11_2154779_2166209	2161578	A A	AGACCCCT others(23): Show AGACCCCTGTCCCCAGGACCCCTGTCCCCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02280.hp2 NA20129.hp1 HG01884.hp1 HG02280.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	3	376	0.0080	30	c.-42 others(39): Show c.-429_-428insCTGGGGACAGGGGTCCTGGGGACAGGGGTC	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		370		chr11	TogoVar
INS_chr11_2154779_2166209	2161592	A A	AGGACCCC others(23): Show AGGACCCCTGTCCCCACACCCCTGTCCCTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02809.hp2 NA18522.hp1 HG02258.hp2 HG02809.hp2 NA18522.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0002 a0003c0004t0002 a0001c0001t0002 a0003c0004t0002	a0001c0001t0002g0006 a0003c0004t0002g0022 a0001c0001t0002g0006 a0003c0004t0002g0022	3	376	0.0080	30	c.-44 others(39): Show c.-443_-442insCCAGGGACAGGGGTGTGGGGACAGGGGTCC	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		384		chr11	TogoVar
INS_chr11_2154779_2166209	2161757	T T	TCCCCACA others(23): Show TCCCCACACCCCTGTCCCCGGGACCCCTGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	376	0.0027	30	c.-60 others(39): Show c.-608_-607insGACAGGGGTCCCGGGGACAGGGGTGTGGGG	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		549		chr11	TogoVar
INS_chr11_2154779_2166209	2161916	C C	CCCACACA others(23): Show CCCACACACCCTGTCCCGGGACCCCTGTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	376	0.0027	30	c.-76 others(39): Show c.-767_-766insAGGACAGGGGTCCCGGGACAGGGTGTGTGG	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		708		chr11	TogoVar
INTS6_chr13_51356577_51458036	51429785	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0129 a0001c0001t0014g0129	1	358	0.0028	30	c.429 others(45): Show c.429+508_429+509insATATATATATATATATATTTTTTTTTTTTT	INTS6	ENSG00000102786.15	transcript	ENST00000311234.9	protein_coding	4/17			chr13	TogoVar
INTU_chr4_127627957_127731737	127691962	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03516.hp2 NA18952.hp1 HG02970.hp2 HG03516.hp2 NA18952.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0017 a0001c0001t0067 a0002c0003t0011 a0001c0001t0017 a0001c0001t0067 a0002c0003t0011	a0001c0001t0017g0155 a0001c0001t0067g0136 a0002c0003t0011g0314 a0001c0001t0017g0155 a0001c0001t0067g0136 a0002c0003t0011g0314	3	358	0.0084	30	c.144 others(49): Show c.1449+4114_1449+4115insATATATATATATATATATATATATAT ATAT	INTU	ENSG00000164066.13	transcript	ENST00000335251.11	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
INTU_chr4_127627957_127731737	127691962	G G	GTGTATAT others(23): Show GTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01106.hp1 HG01169.hp1 others(11): Show HG00423.hp2 HG01106.hp1 HG01169.hp1 HG01243.hp2 HG01256.hp2 HG02148.hp2 HG02622.hp1 HG02895.hp1 NA18747.hp2 NA18951.hp1 NA18986.hp1 NA19000.hp1 NA20752.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0008 a0001c0001t0016 others(2): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0016 a0001c0004t0002 a0001c0004t0008	a0001c0001t0002g0005 a0001c0001t0002g0033 a0001c0001t0002g0041 others(10): Show a0001c0001t0002g0005 a0001c0001t0002g0033 a0001c0001t0002g0041 a0001c0001t0002g0059 a0001c0001t0002g0066 a0001c0001t0002g0077 a0001c0001t0002g0099 a0001c0001t0002g0108 a0001c0001t0002g0117 a0001c0001t0008g0029 a0001c0001t0016g0084 a0001c0004t0002g0267 a0001c0004t0008g0168	14	358	0.0391	30	c.144 others(49): Show c.1449+4096_1449+4097insGTATATATATATATATATATATATAT ATAT	INTU	ENSG00000164066.13	transcript	ENST00000335251.11	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
INTU_chr4_127627957_127731737	127691962	G G	GTGTGTAT others(23): Show GTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03669.hp2 HG02809.hp1 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0065 a0001c0006t0054 a0001c0001t0065 a0001c0006t0054	a0001c0001t0065g0067 a0001c0006t0054g0272 a0001c0001t0065g0067 a0001c0006t0054g0272	2	358	0.0056	30	c.144 others(49): Show c.1449+4096_1449+4097insGTGTATATATATATATATATATATAT ATAT	INTU	ENSG00000164066.13	transcript	ENST00000335251.11	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
INTU_chr4_127627957_127731737	127691962	G G	GTGTGTGT others(23): Show GTGTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0124 a0001c0001t0010g0124	1	358	0.0028	30	c.144 others(49): Show c.1449+4096_1449+4097insGTGTGTATATATATATATATATATAT ATAT	INTU	ENSG00000164066.13	transcript	ENST00000335251.11	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
INVS_chr9_100094243_100307175	100219881	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0020 a0007c0006t0020	a0007c0006t0020g0099 a0007c0006t0020g0099	1	182	0.0055	30	c.274 others(47): Show c.274-6163_274-6162insATATATATATATATATATATATATATAT AT	INVS	ENSG00000119509.13	transcript	ENST00000262457.7	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr9	TogoVar
IP6K1_chr3_49719294_49791542	49780309	T T	TAAACACA others(23): Show TAAACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18955.hp2 NA18954.hp1 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0116 a0001c0001t0001g0117	2	260	0.0077	30	c.-12 others(49): Show c.-129+6044_-129+6045insGTGTGTGTGTGTGTGTGTGTGTGTGT GTTT	IP6K1	ENSG00000176095.12	transcript	ENST00000321599.9	protein_coding	1/5			chr3	TogoVar
IP6K1_chr3_49719294_49791542	49780309	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp1 HG00735.hp2 others(14): Show HG00639.hp1 HG00735.hp1 HG00735.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01346.hp2 HG02071.hp1 HG02257.hp1 HG02735.hp1 HG03225.hp2 HG03492.hp2 NA18968.hp2 NA18993.hp1 NA19072.hp1 NA19072.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0002 a0001c0001t0001g0021 a0001c0001t0001g0097 others(13): Show a0001c0001t0001g0002 a0001c0001t0001g0021 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0002g0189 a0001c0001t0002g0222 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0246 a0001c0001t0005g0144 a0001c0001t0006g0104	17	260	0.0654	30	c.-12 others(49): Show c.-129+6015_-129+6044dupGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	IP6K1	ENSG00000176095.12	transcript	ENST00000321599.9	protein_coding	1/5			chr3	TogoVar
IPCEF1_chr6_154149496_154361803	154313067	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0147 a0001c0001t0004g0147	1	264	0.0038	30	c.-61 others(49): Show c.-61-23312_-61-23311insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding	1/11			chr6	TogoVar
IPCEF1_chr6_154149496_154361803	154331405	A A	AAGAAAGA others(23): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	264	0.0038	30	c.-62 others(49): Show c.-62+25266_-62+25267insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCT	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding	1/11			chr6	TogoVar
IPMK_chr10_58186517_58272894	58211901	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18957.hp1 NA18971.hp2 NA18612.hp2 NA18957.hp1 NA18971.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0193 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0193	3	346	0.0087	30	c.546 others(47): Show c.546+4243_546+4244insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	IPMK	ENSG00000151151.6	transcript	ENST00000373935.4	protein_coding	4/5			chr10	TogoVar
IPO11_chr5_62407763_62633582	62435092	G G	GTGTATAT others(23): Show GTGTATATATGTATATATGTATATATATGTA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	330	0.0030	30	c.-6- others(45): Show c.-6-2181_-6-2180insGTATATATGTATATATGTATATATATGTAT	IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr5	TogoVar
IPO11_chr5_62407763_62633582	62435182	A A	ATATATAT others(23): Show ATATATATGTATATATATGTATATATATGTG	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0222 a0001c0002t0001g0222	1	330	0.0030	30	c.-6- others(45): Show c.-6-2084_-6-2055dupGTATATATATGTATATATATGTGTATATAT	IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr5	TogoVar
IPO11_chr5_62407763_62633582	62470816	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	330	0.0030	30	c.708 others(45): Show c.708+537_708+538insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	7/29		INFO_REALIGN_3_PRIME	chr5	TogoVar
IPO11_chr5_62407763_62633582	62514634	G G	GGGAGAGG others(23): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAC	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	330	0.0030	30	c.178 others(47): Show c.1783-749_1783-748insGGGAGAGGGAGAGGGAGAGGGAGACGGA GA	IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	19/29		INFO_REALIGN_3_PRIME	chr5	TogoVar
IPO5_chr13_97948675_98029296	98010780	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01071.hp2 HG02155.hp2 HG00741.hp1 HG01071.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0224 a0001c0001t0001g0234 a0001c0001t0001g0236	3	380	0.0079	30	c.205 others(47): Show c.2055+574_2055+575insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	IPO5	ENSG00000065150.21	transcript	ENST00000651721.2	protein_coding	20/28		INFO_REALIGN_3_PRIME	chr13	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18989.hp1 NA18941.hp2 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0207 a0001c0001t0002g0210 a0001c0001t0002g0207 a0001c0001t0002g0210	2	314	0.0064	30	c.85- others(45): Show c.85-5948_85-5947insAAAAAAAAAAAAAAAATATATATATATATA	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA19066.hp1 HG01884.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0052 a0001c0001t0002g0204 a0001c0001t0001g0052 a0001c0001t0002g0204	2	314	0.0064	30	c.85- others(45): Show c.85-5948_85-5947insAAAAAAAAAAAAAATATATATATATATATA	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp2 NA18747.hp2 NA18982.hp1 HG02738.hp2 NA18747.hp2 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0252 a0001c0001t0002g0258 a0001c0001t0009g0242 a0001c0001t0002g0252 a0001c0001t0002g0258 a0001c0001t0009g0242	3	314	0.0096	30	c.85- others(45): Show c.85-5948_85-5947insAAAAAAAAAAAATATATATATATATATATA	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAAAA others(23): Show AAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0196 a0001c0001t0002g0196	1	314	0.0032	30	c.85- others(45): Show c.85-5948_85-5947insAAAAAAAAAATATATATATATATATATATA	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9397361	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATTA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02886.hp2 HG03540.hp2 HG01123.hp2 HG02886.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0270 a0001c0001t0003g0295 a0001c0001t0003g0297 a0001c0001t0003g0270 a0001c0001t0003g0295 a0001c0001t0003g0297	3	314	0.0096	30	c.85- others(45): Show c.85-5925_85-5924insATATATATATATATATATATATATTAATAT	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9432989	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0223 a0001c0001t0004g0223	1	314	0.0032	30	c.188 others(47): Show c.1882-565_1882-564insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	16/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9436868	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	314	0.0032	30	c.226 others(47): Show c.2268+503_2268+504insATATATATATATATATATATATATATAT TT	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	20/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9436868	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	314	0.0032	30	c.226 others(47): Show c.2268+503_2268+504insATATATATATATATATATATATATATTT TT	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	20/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO9_chr1_201824157_201889291	201859180	A A	AATAAATA others(23): Show AATAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18982.hp2 NA19004.hp1 HG02056.hp1 NA18982.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0105 a0001c0001t0001 a0001c0001t0006 a0001c0001t0105	a0001c0001t0001g0206 a0001c0001t0006g0045 a0001c0001t0105g0128 a0001c0001t0001g0206 a0001c0001t0006g0045 a0001c0001t0105g0128	3	396	0.0076	30	c.146 others(47): Show c.1468+189_1468+190insAATATATATATATATATATATATATATA TA	IPO9	ENSG00000198700.10	transcript	ENST00000361565.9	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr1	TogoVar
IPO9_chr1_201824157_201889291	201859180	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0314 a0001c0001t0012g0314	1	396	0.0025	30	c.146 others(47): Show c.1468+213_1468+214insTATATATATATATATATATATATATATA TA	IPO9	ENSG00000198700.10	transcript	ENST00000361565.9	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr1	TogoVar
IQANK1_chr8_143729139_143795645	143747910	G G	GTCCTTTC others(23): Show GTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0135 a0003c0003t0001g0135	1	349	0.0029	30	c.175 others(47): Show c.175+7996_175+8025dupTTTCCTTTCCTTTCCTTTCCTTTCCTTT CC	IQANK1	ENSG00000203499.12	transcript	ENST00000527139.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
IQANK1_chr8_143729139_143795645	143751660	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0044 a0007c0007t0001g0044	1	349	0.0029	30	c.175 others(49): Show c.175+11713_175+11714insATATATATATATATATATATATATAT ATAT	IQANK1	ENSG00000203499.12	transcript	ENST00000527139.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
IQANK1_chr8_143729139_143795645	143751662	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA19082.hp2 HG03516.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0001 a0001c0001t0001 a0001c0010t0001	a0001c0001t0001g0147 a0001c0010t0001g0037 a0001c0001t0001g0147 a0001c0010t0001g0037	2	349	0.0057	30	c.175 others(49): Show c.175+11715_175+11716insATATATATATATATATATATATATAT ATAT	IQANK1	ENSG00000203499.12	transcript	ENST00000527139.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
IQANK1_chr8_143729139_143795645	143751664	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03704.hp2 HG03654.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0068 a0001c0001t0001g0062 a0001c0001t0001g0068	2	349	0.0057	30	c.175 others(49): Show c.175+11730_175+11731insTATATATATATATATATATATATATA TATA	IQANK1	ENSG00000203499.12	transcript	ENST00000527139.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
IQANK1_chr8_143729139_143795645	143751664	G G	GTGTATAT others(23): Show GTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0043 a0007c0007t0001g0043	1	349	0.0029	30	c.175 others(49): Show c.175+11717_175+11718insGTATATATATATATATATATATATAT ATAT	IQANK1	ENSG00000203499.12	transcript	ENST00000527139.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
IQCA1_chr2_236319151_236512476	236347508	C C	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01993.hp2 HG02615.hp2 others(3): Show HG01257.hp2 HG01993.hp2 HG02615.hp2 HG02735.hp2 NA18993.hp2 NA19005.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0003 a0001c0001 a0001c0004 a0003c0003	a0001c0001t0001 a0001c0001t0004 a0001c0004t0002 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0004t0002 a0003c0003t0001	a0001c0001t0001g0044 a0001c0001t0001g0101 a0001c0001t0004g0031 others(3): Show a0001c0001t0001g0044 a0001c0001t0001g0101 a0001c0001t0004g0031 a0001c0004t0002g0102 a0003c0003t0001g0047 a0003c0003t0001g0062	6	208	0.0289	30	c.187 others(49): Show c.1870-2866_1870-2865insTATATATATATATATATATATATATA TATA	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	15/18			chr2	TogoVar
IQCA1_chr2_236319151_236512476	236347508	C C	CTCTATAT others(23): Show CTCTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02965.hp2 HG03579.hp2 HG02630.hp2 HG02965.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0022 a0001c0001 a0001c0022	a0001c0001t0004 a0001c0022t0008 a0001c0001t0004 a0001c0022t0008	a0001c0001t0004g0057 a0001c0001t0004g0058 a0001c0022t0008g0021 a0001c0001t0004g0057 a0001c0001t0004g0058 a0001c0022t0008g0021	3	208	0.0144	30	c.187 others(49): Show c.1870-2866_1870-2865insTATATATATATATATATATATATATA TAGA	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	15/18			chr2	TogoVar
IQCA1_chr2_236319151_236512476	236356932	T T	TTATATAT others(23): Show TTATATATTATATATTCATATATCATAAATA	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0116 a0003c0006t0001g0116	1	208	0.0048	30	c.186 others(49): Show c.1869+6818_1869+6847dupTATTTATGATATATGAATATATAATA TATA	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	15/18			chr2	TogoVar
IQCA1_chr2_236319151_236512476	236357083	A A	ATATATTT others(23): Show ATATATTTTATATATTCGTATATTATATATC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02109.hp2 others(13): Show HG01884.hp2 HG01891.hp1 HG02109.hp2 HG02257.hp1 HG02451.hp2 HG02723.hp1 HG02809.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03139.hp1 HG03195.hp1 HG03486.hp2 NA18906.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0008 a0001c0001 a0001c0005 a0002c0008	a0001c0001t0001 a0001c0001t0003 a0001c0005t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0005t0001 a0001c0005t0002 a0002c0008t0001	a0001c0001t0001g0034 a0001c0001t0001g0043 a0001c0001t0001g0105 others(13): Show a0001c0001t0001g0034 a0001c0001t0001g0043 a0001c0001t0001g0105 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0198 a0001c0001t0003g0015 a0001c0005t0001g0073 a0001c0005t0002g0041 a0001c0005t0002g0059 a0001c0005t0002g0060 a0001c0005t0002g0138 a0002c0008t0001g0054 a0002c0008t0001g0055	16	208	0.0769	30	c.186 others(49): Show c.1869+6667_1869+6696dupGATATATAATATACGAATATATAAAA TATA	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	15/18			chr2	TogoVar
IQCA1_chr2_236319151_236512476	236357089	T T	TTTATATA others(23): Show TTTATATATTCGTATATTATATATCTATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02486.hp2 HG02717.hp2 others(1): Show HG01891.hp2 HG02486.hp2 HG02717.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0005 a0002c0002t0007 a0001c0001t0004 a0002c0002t0005 a0002c0002t0007	a0001c0001t0004g0163 a0001c0001t0004g0175 a0002c0002t0005g0111 others(1): Show a0001c0001t0004g0163 a0001c0001t0004g0175 a0002c0002t0005g0111 a0002c0002t0007g0025	4	208	0.0192	30	c.186 others(49): Show c.1869+6661_1869+6690dupTATATAGATATATAATATACGAATAT ATAA	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	15/18			chr2	TogoVar
IQCA1_chr2_236319151_236512476	236366778	C C	CCTCCCTC others(23): Show CCTCCCTCTCCCTCTCCCTCCCTCCCTCCCT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp1 NA19080.hp2 HG02109.hp1 HG02258.hp1 NA19080.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0021 a0002c0023 a0001c0001 a0001c0021 a0002c0023	a0001c0001t0001 a0001c0021t0008 a0002c0023t0009 a0001c0001t0001 a0001c0021t0008 a0002c0023t0009	a0001c0001t0001g0046 a0001c0021t0008g0019 a0002c0023t0009g0178 a0001c0001t0001g0046 a0001c0021t0008g0019 a0002c0023t0009g0178	3	208	0.0144	30	c.166 others(49): Show c.1669+1415_1669+1416insAGGGAGGGAGGGAGGGAGAGGGAGAG GGAG	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	14/18			chr2	TogoVar
IQCA1_chr2_236319151_236512476	236416719	A A	ATTTTTAT others(23): Show ATTTTTATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01934.hp1 HG01257.hp2 HG01934.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0102 a0001c0004t0002g0134 a0001c0004t0002g0102 a0001c0004t0002g0134	2	208	0.0096	30	c.113 others(49): Show c.1134+2429_1134+2430insAATATATATATATATATATATATATA AAAA	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	8/18			chr2	TogoVar
IQCB1_chr3_121764761_121840060	121767774	T T	TTTTTTAT others(23): Show TTTTTTATTATTATTATTATTATTATTATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0106 a0002c0003t0001g0106	1	308	0.0033	30	c.25 others(41): Show c.2570_*2571insTAATAATAATAATAATAATAATAATAAAAA	IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding		1986		chr3	TogoVar
IQCB1_chr3_121764761_121840060	121786170	C C	CAAAAGAA others(23): Show CAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02922.hp1 HG03486.hp1 others(1): Show HG02280.hp2 HG02922.hp1 HG03486.hp1 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0004 a0001c0002 a0003c0004	a0001c0002t0001 a0003c0004t0001 a0001c0002t0001 a0003c0004t0001	a0001c0002t0001g0002 a0003c0004t0001g0037 a0001c0002t0001g0002 a0003c0004t0001g0037	4	308	0.0130	30	c.127 others(49): Show c.1278+2084_1278+2113dupCTTTTCTTTTCTTTTCTTTTCTTTTC TTTT	IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding	12/14			chr3	TogoVar
IQCE_chr7_2553979_2619728	2611110	T T	TGGCTGGG others(23): Show TGGCTGGGCTGGGCTGGGCTGGGCTGGGCTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03139.hp1 NA18956.hp1 HG03139.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0062 a0001c0001t0061 a0001c0001t0062	a0001c0001t0061g0176 a0001c0001t0062g0113 a0001c0001t0061g0176 a0001c0001t0062g0113	2	416	0.0048	30	c.95 others(39): Show c.952_*981dupTGGGCTGGGCTGGGCTGGGCTGGGCTGGGC	IQCE	ENSG00000106012.19	transcript	ENST00000402050.7	protein_coding	22/22	982	INFO_REALIGN_3_PRIME	chr7	TogoVar
IQCE_chr7_2553979_2619728	2615295	A A	ATATATGT others(23): Show ATATATGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 NA18977.hp2 NA19085.hp1 HG00408.hp2 NA18977.hp2 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0003 a0002c0002t0104 a0002c0004t0012 a0002c0002t0003 a0002c0002t0104 a0002c0004t0012	a0002c0002t0003g0401 a0002c0002t0104g0292 a0002c0004t0012g0357 a0002c0002t0003g0401 a0002c0002t0104g0292 a0002c0004t0012g0357	3	416	0.0072	30	c.51 others(41): Show c.5133_*5134insTATATGTGTGTGTGTGTGTGTGTGTGTGTG	IQCE	ENSG00000106012.19	transcript	ENST00000402050.7	protein_coding		568		chr7	TogoVar

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