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
SLC35F3_chr1_233899676_234329511	234081904	A A	ATTTTTTT others(25): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0128 a0001c0002t0002g0128	1	21	0.0476	32	c.284 others(53): Show c.284-149512_284-149481dupTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	SLC35F3	ENSG00000183780.13	transcript	ENST00000366618.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC35F3_chr1_233899676_234329511	234126476	C C	CGTGTGTG others(25): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0130 a0001c0002t0002g0130	1	113	0.0088	32	c.284 others(53): Show c.284-104941_284-104940insGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	SLC35F3	ENSG00000183780.13	transcript	ENST00000366618.8	protein_coding	2/7			chr1	TogoVar
SLC38A4_chr12_46759761_46830997	46825313	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG02523.hp1 HG01257.hp1 HG01258.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0035 a0001c0001t0004g0328 a0001c0001t0004g0035 a0001c0001t0004g0328	3	193	0.0155	32	c.-30 others(49): Show c.-305+589_-305+590insTATATATATATATATATATATATATATA TATA	SLC38A4	ENSG00000139209.16	transcript	ENST00000266579.9	protein_coding	1/16			chr12	TogoVar
SLC38A7_chr16_58660109_58689770	58669733	G G	GGGAGGCC others(25): Show GGGAGGCCGAGGAAGGAGGATCACCTAAGGTCA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp2 HG00558.hp1 others(102): Show HG00323.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp2 HG00639.hp1 HG00738.hp2 HG00741.hp2 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01496.hp1 HG01934.hp2 HG01978.hp1 HG02004.hp2 HG02040.hp2 HG02080.hp2 HG02083.hp1 HG02132.hp2 HG02165.hp2 HG02257.hp1 HG02451.hp2 HG02523.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02683.hp2 HG02896.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03704.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp1 NA18522.hp1 NA18612.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18947.hp1 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18953.hp2 NA18956.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp2 NA18965.hp2 NA18966.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18987.hp1 NA18991.hp1 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19056.hp2 NA19058.hp2 NA19059.hp2 NA19064.hp2 NA19065.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp2 NA19079.hp2 NA19082.hp2 NA19085.hp2 NA19091.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0009 others(1): Show a0001c0001 a0001c0005 a0001c0009 a0001c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0005t0001 a0001c0009t0001 a0001c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0018 others(46): Show a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0080 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0177 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0002g0020 a0001c0001t0002g0101 a0001c0001t0002g0144 a0001c0001t0002g0149 a0001c0001t0002g0152 a0001c0001t0002g0157 a0001c0001t0015g0021 a0001c0001t0016g0038 a0001c0001t0016g0178 a0001c0001t0020g0153 a0001c0001t0020g0162 a0001c0001t0022g0036 a0001c0001t0023g0136 a0001c0005t0001g0013 a0001c0005t0001g0168 a0001c0009t0001g0068 a0001c0011t0001g0171	105	390	0.2692	32	c.128 others(49): Show c.1286+348_1286+379dupTGACCTTAGGTGATCCTCCTTCCTCGGC CTCC	SLC38A7	ENSG00000103042.9	transcript	ENST00000219320.9	protein_coding	11/11			chr16	TogoVar
SLC39A11_chr17_72640949_73097688	72914867	C C	CATAAATA others(25): Show CATAAATAAATAAATAAATAAATAAATAAATAA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0100 a0001c0001t0008g0100	1	167	0.0060	32	c.430 others(51): Show c.430+32884_430+32885insTTATTTATTTATTTATTTATTTATTT ATTTAT	SLC39A11	ENSG00000133195.12	transcript	ENST00000255559.8	protein_coding	5/9			chr17	TogoVar
SLC39A11_chr17_72640949_73097688	73004232	A A	AAAGAAAG others(25): Show AAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0117 a0001c0008t0001g0117	1	56	0.0179	32	c.306 others(51): Show c.306+27323_306+27324insCTTTCTTTCTTTTCTTTCTTTCTTTC TTTCTT	SLC39A11	ENSG00000133195.12	transcript	ENST00000255559.8	protein_coding	4/9			chr17	TogoVar
SLC39A11_chr17_72640949_73097688	73062475	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	40	0.0250	32	c.147 others(51): Show c.147+22332_147+22333insGTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SLC39A11	ENSG00000133195.12	transcript	ENST00000255559.8	protein_coding	3/9			chr17	TogoVar
SLC39A12_chr10_17946918_18048285	18041591	A A	ATATATAT others(25): Show ATATATATGTGTATATATATGTATATACATATG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02148.hp1 HG03239.hp2 others(3): Show HG01346.hp2 HG02148.hp1 HG03239.hp2 HG03688.hp2 NA18954.hp1 NA18960.hp2	a0001 a0002 a0014 others(1): Show a0001 a0002 a0014 a0015	a0001c0001 a0001c0006 a0002c0003 others(2): Show a0001c0001 a0001c0006 a0002c0003 a0014c0027 a0015c0030	a0001c0001t0002 a0001c0006t0002 a0002c0003t0002 others(2): Show a0001c0001t0002 a0001c0006t0002 a0002c0003t0002 a0014c0027t0002 a0015c0030t0002	a0001c0001t0002g0095 a0001c0006t0002g0244 a0002c0003t0002g0177 others(3): Show a0001c0001t0002g0095 a0001c0006t0002g0244 a0002c0003t0002g0177 a0002c0003t0002g0202 a0014c0027t0002g0358 a0015c0030t0002g0137	6	234	0.0256	32	c.194 others(50): Show c.1948-1000_1948-969dupATGTATATACATATGTATATATGTGTA TATAT	SLC39A12	ENSG00000148482.12	transcript	ENST00000377369.7	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
SLC39A14_chr8_22362278_22427736	22423786	T T	TTCTCTCT others(25): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00642.hp1 HG01109.hp2 others(11): Show HG00621.hp1 HG00642.hp1 HG01109.hp2 HG01192.hp1 HG02055.hp1 HG02273.hp1 HG02300.hp1 HG03704.hp2 HG04115.hp2 NA18984.hp2 NA19005.hp2 NA19063.hp1 NA19077.hp1 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0001c0004 a0001c0005 others(1): Show a0001c0003 a0001c0004 a0001c0005 a0003c0001	a0001c0003t0010 a0001c0004t0001 a0001c0005t0003 others(2): Show a0001c0003t0010 a0001c0004t0001 a0001c0005t0003 a0003c0001t0001 a0003c0001t0016	a0001c0003t0010g0162 a0001c0003t0010g0163 a0001c0004t0001g0197 others(11): Show a0001c0003t0010g0162 a0001c0003t0010g0163 a0001c0004t0001g0197 a0001c0005t0003g0196 a0003c0001t0001g0006 a0003c0001t0001g0053 a0003c0001t0001g0083 a0003c0001t0001g0097 a0003c0001t0001g0100 a0003c0001t0001g0103 a0003c0001t0001g0142 a0003c0001t0001g0153 a0003c0001t0001g0312 a0003c0001t0016g0139	14	135	0.1037	32	c.40 others(43): Show c.4088_*4089insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding		1051		chr8	TogoVar
SLC41A2_chr12_104796801_104963290	104878299	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA18980.hp2 NA19010.hp1 others(1): Show HG02630.hp1 NA18980.hp2 NA19010.hp1 NA19086.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0005c0007 a0001c0002 a0005c0007	a0001c0002t0006 a0001c0002t0015 a0001c0002t0020 others(1): Show a0001c0002t0006 a0001c0002t0015 a0001c0002t0020 a0005c0007t0006	a0001c0002t0006g0009 a0001c0002t0015g0200 a0001c0002t0020g0038 others(1): Show a0001c0002t0006g0009 a0001c0002t0015g0200 a0001c0002t0020g0038 a0005c0007t0006g0025	4	75	0.0533	32	c.102 others(51): Show c.1027+7993_1027+7994insTATATATATATATATATATATATATA TATATA	SLC41A2	ENSG00000136052.10	transcript	ENST00000258538.8	protein_coding	6/10			chr12	TogoVar
SLC41A3_chr3_126001357_126089124	126059263	G G	GAAAGAAA others(25): Show GAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAGA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	3	0.3333	32	c.274 others(49): Show c.274-8214_274-8213insTCTCTTTCTTTTCTTTCTTTCTTTCTTT CTTT	SLC41A3	ENSG00000114544.17	transcript	ENST00000360370.9	protein_coding	2/10			chr3	TogoVar
SLC43A2_chr17_1564268_1633834	1600152	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18999.hp2 NA18964.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0303 a0001c0001t0001g0044 a0001c0001t0001g0303	2	233	0.0086	32	c.502 others(49): Show c.502-6874_502-6873insAATATATATATATATATATATATATATA TATA	SLC43A2	ENSG00000167703.15	transcript	ENST00000301335.10	protein_coding	5/13			chr17	TogoVar
SLC43A2_chr17_1564268_1633834	1600152	A A	ATATATAT others(25): Show ATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0306 a0001c0001t0008g0306	1	232	0.0043	32	c.502 others(49): Show c.502-6874_502-6873insAAAAAAAAAATATATATATATATATATA TATA	SLC43A2	ENSG00000167703.15	transcript	ENST00000301335.10	protein_coding	5/13			chr17	TogoVar
SLC43A3_chr11_57401954_57432121	57403539	G G	GAAGAAGA others(25): Show GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG01517.hp2 HG01516.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0006 a0001c0001t0005g0006	2	323	0.0062	32	c.42 others(43): Show c.4252_*4253insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3414		chr11	TogoVar
SLC43A3_chr11_57401954_57432121	57403542	G G	GAAGAAGA others(25): Show GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0030 a0001c0001t0006g0030	1	323	0.0031	32	c.42 others(43): Show c.4249_*4250insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3411		chr11	TogoVar
SLC43A3_chr11_57401954_57432121	57404198	T T	TATAAATA others(25): Show TATAAATAAATAAATAAATAAATAAATAAATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp2 NA18988.hp1 NA19002.hp2 others(1): Show NA18953.hp2 NA18988.hp1 NA19002.hp2 NA19006.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0003 a0003c0005t0010 a0003c0005t0001 a0003c0005t0003 a0003c0005t0010	a0003c0005t0001g0126 a0003c0005t0003g0069 a0003c0005t0003g0072 others(1): Show a0003c0005t0001g0126 a0003c0005t0003g0069 a0003c0005t0003g0072 a0003c0005t0010g0070	4	85	0.0471	32	c.35 others(43): Show c.3593_*3594insTTATTTATTTATTTATTTATTTATTTATTTAT	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		2755		chr11	TogoVar
SLC44A1_chr9_105239651_105402346	105387060	A A	AAAAAAAA others(25): Show AAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0061	1	42	0.0238	32	c.195 others(51): Show c.1950+1559_1950+1560insAAAAAAAATATATATATATATATATA TATATA	SLC44A1	ENSG00000070214.17	transcript	ENST00000374720.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
SLC44A1_chr9_105239651_105402346	105387060	A A	AAAAAAAA others(25): Show AAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0110 a0002c0002t0009g0110	1	42	0.0238	32	c.195 others(51): Show c.1950+1559_1950+1560insAAAAAATATATATATATATATATATA TATATA	SLC44A1	ENSG00000070214.17	transcript	ENST00000374720.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
SLC44A1_chr9_105239651_105402346	105387060	A A	AAAAAATA others(25): Show AAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0079	a0001c0001t0079g0053 a0001c0001t0079g0053	1	42	0.0238	32	c.195 others(51): Show c.1950+1559_1950+1560insAAAATATATATATATATATATATATA TATATA	SLC44A1	ENSG00000070214.17	transcript	ENST00000374720.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
SLC44A5_chr1_75197129_75616114	75444483	G G	GAAGAAAG others(25): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01515.hp1 HG02280.hp2 others(3): Show HG00733.hp2 HG01515.hp1 HG02280.hp2 HG02572.hp1 HG02572.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 a0001c0002 a0001c0003 a0001c0004	a0001c0002t0002 a0001c0002t0004 a0001c0003t0001 others(2): Show a0001c0002t0002 a0001c0002t0004 a0001c0003t0001 a0001c0003t0010 a0001c0004t0001	a0001c0002t0002g0084 a0001c0002t0002g0104 a0001c0002t0004g0081 others(3): Show a0001c0002t0002g0084 a0001c0002t0002g0104 a0001c0002t0004g0081 a0001c0003t0001g0112 a0001c0003t0010g0113 a0001c0004t0001g0024	6	85	0.0706	32	c.14- others(49): Show c.14-47863_14-47862insTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTT	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	2/23			chr1	TogoVar
SLC45A1_chr1_8313114_8349165	8322331	G G	GGTGGGTG others(25): Show GGTGGGTGGGTGGGTGGATGGATGAGTGGGTGA	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0200 a0001c0002t0001g0200	1	315	0.0032	32	c.-24 others(49): Show c.-24-1975_-24-1974insGTGGGTGGGTGGGTGGATGGATGAGTGG GTGA	SLC45A1	ENSG00000162426.16	transcript	ENST00000471889.7	protein_coding	1/8			chr1	TogoVar
SLC45A1_chr1_8313114_8349165	8322335	G G	GGTGGGTG others(25): Show GGTGGGTGGGTGGGTGGATGGATGAGTGGGTGA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02257.hp2 NA19030.hp2 HG01167.hp1 HG02257.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0015 a0001c0003t0001g0015	3	386	0.0078	32	c.-24 others(49): Show c.-24-1971_-24-1970insGTGGGTGGGTGGGTGGATGGATGAGTGG GTGA	SLC45A1	ENSG00000162426.16	transcript	ENST00000471889.7	protein_coding	1/8			chr1	TogoVar
SLC45A2_chr5_33939623_33989693	33969065	C C	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTGTGTG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	106	0.0094	32	c.563 others(49): Show c.563-5050_563-5049insCACACAGAGAGAGAGAGAGAGAGAGAGA GAGA	SLC45A2	ENSG00000164175.15	transcript	ENST00000296589.9	protein_coding	2/6			chr5	TogoVar
SLC45A4_chr8_141202174_141313288	141203366	A A	AGAGACCG others(25): Show AGAGACCGTGGAGAGAGGGAGAGGGAGACCGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0153 a0001c0010t0001g0153	1	178	0.0056	32	c.82 others(43): Show c.8205_*8206insCACGGTCTCCCTCTCCCTCTCTCCACGGTCTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3807		chr8	TogoVar
SLC45A4_chr8_141202174_141313288	141203374	A A	AGAGACCG others(25): Show AGAGACCGTGGAGAGAGGGAGAGGGAGACCGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0059 a0002c0001t0001g0059	1	173	0.0058	32	c.81 others(43): Show c.8197_*8198insCACGGTCTCCCTCTCCCTCTCTCCACGGTCTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3799		chr8	TogoVar
SLC45A4_chr8_141202174_141313288	141267742	T T	TCAAGGGG others(25): Show TCAAGGGGTTGTAGCTGTGGTGCCACCACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02109.hp2 others(3): Show HG01884.hp2 HG02055.hp1 HG02109.hp2 HG03098.hp1 HG03486.hp1 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0001c0021 a0002c0005 a0001c0006 a0001c0021 a0002c0005	a0001c0006t0009 a0001c0006t0026 a0001c0021t0011 others(1): Show a0001c0006t0009 a0001c0006t0026 a0001c0021t0011 a0002c0005t0007	a0001c0006t0009g0001 a0001c0006t0009g0006 a0001c0006t0026g0007 others(2): Show a0001c0006t0009g0001 a0001c0006t0009g0006 a0001c0006t0026g0007 a0001c0021t0011g0003 a0002c0005t0007g0005	6	186	0.0323	32	c.-40 others(53): Show c.-400-13145_-400-13114dupGTGTGTGGTGGCACCACAGCTACA ACCCCTTG	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding	1/8			chr8	TogoVar
SLC46A3_chr13_28695080_28723970	28717484	A A	AATTTTTT others(25): Show AATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp2 HG00597.hp1 others(3): Show HG00140.hp1 HG00423.hp2 HG00597.hp1 HG00621.hp1 HG03654.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0022 a0001c0001t0004g0168 a0001c0001t0004g0169 others(1): Show a0001c0001t0004g0022 a0001c0001t0004g0168 a0001c0001t0004g0169 a0001c0001t0004g0170	6	333	0.0180	32	c.189 others(47): Show c.189+325_189+326insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AT	SLC46A3	ENSG00000139508.15	transcript	ENST00000266943.11	protein_coding	2/5			chr13	TogoVar
SLC47A2_chr17_19673317_19721584	19718872	A A	ACTGCAGA others(25): Show ACTGCAGACTCAGCAGCACCGCCCTGCAGCAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0287 a0002c0008t0001g0287	1	364	0.0027	32	c.-23 others(43): Show c.-2318_-2317insGTTGCTGCAGGGCGGTGCTGCTGAGTCTGCAG	SLC47A2	ENSG00000180638.19	transcript	ENST00000433844.4	protein_coding		2289		chr17	TogoVar
SLC4A10_chr2_161619416_161990270	161660613	T T	TTTCTTTC others(25): Show TTTCTTTCTTTCTTTCTTCCTTTCCTTCTTTCC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02647.hp2 HG03041.hp2 HG02280.hp1 HG02647.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0025 a0001c0001t0001g0037 a0001c0001t0002g0033 a0001c0001t0001g0025 a0001c0001t0001g0037 a0001c0001t0002g0033	3	96	0.0313	32	c.48+ others(49): Show c.48+36060_48+36061insTCTTCCTTTCCTTCTTTCCTTCTTTCTT TCTT	SLC4A10	ENSG00000144290.17	transcript	ENST00000446997.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC4A10_chr2_161619416_161990270	161987840	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG03831.hp1 HG01975.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0097 a0001c0001t0001g0089 a0001c0001t0001g0097	2	13	0.1538	32	c.46 others(43): Show c.4688_*4689insTATATATATATATATATATATATATATATATA	SLC4A10	ENSG00000144290.17	transcript	ENST00000446997.6	protein_coding		2571		chr2	TogoVar
SLC4A4_chr4_71182259_71577083	71443116	C C	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0021 a0001c0001t0002g0022	2	75	0.0267	32	c.965 others(49): Show c.965+2344_965+2345insCTCTCTCTCTCTCTATATATATATATAT ATAT	SLC4A4	ENSG00000080493.19	transcript	ENST00000264485.11	protein_coding	8/25		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC4A4_chr4_71182259_71577083	71443116	C C	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02809.hp2 HG01109.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0029 a0001c0001t0005 a0001c0001t0029	a0001c0001t0005g0051 a0001c0001t0029g0035 a0001c0001t0005g0051 a0001c0001t0029g0035	2	75	0.0267	32	c.965 others(49): Show c.965+2344_965+2345insCTCTCTCTCTCTCTCTCTATATATATAT ATAT	SLC4A4	ENSG00000080493.19	transcript	ENST00000264485.11	protein_coding	8/25		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC4A4_chr4_71182259_71577083	71536457	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATACAT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0074 a0001c0005t0001g0074	1	115	0.0087	32	c.244 others(51): Show c.2442+2076_2442+2077insTATATATATATATATATATATACATA TATATA	SLC4A4	ENSG00000080493.19	transcript	ENST00000264485.11	protein_coding	18/25		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC4A4_chr4_71182259_71577083	71536485	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0152	1	59	0.0169	32	c.244 others(51): Show c.2442+2099_2442+2100insATATATATATATATATATATATATAT ATAAAT	SLC4A4	ENSG00000080493.19	transcript	ENST00000264485.11	protein_coding	18/25		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC4A4_chr4_71334020_71577083	71443116	C C	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0003 a0001c0001t0002g0004	2	113	0.0177	32	c.833 others(49): Show c.833+2344_833+2345insCTCTCTCTCTCTCTATATATATATATAT ATAT	SLC4A4	ENSG00000080493.19	transcript	ENST00000340595.4	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC4A4_chr4_71334020_71577083	71443116	C C	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02809.hp2 HG01109.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0031 a0001c0001t0006 a0001c0001t0031	a0001c0001t0006g0067 a0001c0001t0031g0001 a0001c0001t0006g0067 a0001c0001t0031g0001	2	113	0.0177	32	c.833 others(49): Show c.833+2344_833+2345insCTCTCTCTCTCTCTCTCTATATATATAT ATAT	SLC4A4	ENSG00000080493.19	transcript	ENST00000340595.4	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC4A4_chr4_71334020_71577083	71536457	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATACAT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0211 a0001c0006t0001g0211	1	159	0.0063	32	c.231 others(51): Show c.2310+2076_2310+2077insTATATATATATATATATATATACATA TATATA	SLC4A4	ENSG00000080493.19	transcript	ENST00000340595.4	protein_coding	15/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC4A4_chr4_71334020_71577083	71536485	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0094	1	102	0.0098	32	c.231 others(51): Show c.2310+2099_2310+2100insATATATATATATATATATATATATAT ATAAAT	SLC4A4	ENSG00000080493.19	transcript	ENST00000340595.4	protein_coding	15/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC5A11_chr16_24840963_24916626	24849593	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG04228.hp1 HG00642.hp2 HG04228.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0001 a0001c0001t0001 a0002c0005t0001	a0001c0001t0001g0194 a0002c0005t0001g0163 a0001c0001t0001g0194 a0002c0005t0001g0163	2	168	0.0119	32	c.-25 others(49): Show c.-25+3156_-25+3157insAAAAAAAAAAAAAAAAAATATATATATA TATA	SLC5A11	ENSG00000158865.13	transcript	ENST00000424767.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC5A4_chr22_32213464_32260347	32213586	A A	ATATACAT others(25): Show ATATACATATACATATATATCTATACATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0041 a0001c0004t0001g0041	1	137	0.0073	32	c.49 others(43): Show c.4927_*4928insCATATATGTATAGATATATATGTATATGTATA	SLC5A4	ENSG00000100191.6	transcript	ENST00000266086.6	protein_coding		4877		chr22	TogoVar
SLC5A4_chr22_32213464_32260347	32213586	A A	ATATACAT others(25): Show ATATACATATATATCTATATCTATACATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG01168.hp1 HG01169.hp2 others(19): Show HG00438.hp2 HG01168.hp1 HG01169.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG01978.hp1 HG02109.hp2 HG02155.hp1 HG02273.hp2 HG02300.hp2 HG02559.hp1 HG02572.hp1 HG02738.hp1 HG02809.hp1 HG02970.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp2 NA19055.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0003 a0003c0005 others(1): Show a0001c0001 a0001c0003 a0003c0005 a0005c0009	a0001c0001t0001 a0001c0003t0001 a0003c0005t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0003c0005t0001 a0005c0009t0001	a0001c0001t0001g0142 a0001c0001t0001g0208 a0001c0003t0001g0005 others(14): Show a0001c0001t0001g0142 a0001c0001t0001g0208 a0001c0003t0001g0005 a0001c0003t0001g0090 a0001c0003t0001g0118 a0001c0003t0001g0120 a0001c0003t0001g0121 a0003c0005t0001g0022 a0003c0005t0001g0097 a0003c0005t0001g0101 a0003c0005t0001g0102 a0003c0005t0001g0103 a0003c0005t0001g0105 a0005c0009t0001g0107 a0005c0009t0001g0108 a0005c0009t0001g0109 a0005c0009t0001g0110	22	158	0.1392	32	c.49 others(43): Show c.4927_*4928insCATATATGTATAGATATAGATATATATGTATA	SLC5A4	ENSG00000100191.6	transcript	ENST00000266086.6	protein_coding		4877		chr22	TogoVar
SLC5A4_chr22_32213464_32260347	32239554	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	204	0.0049	32	c.478 others(47): Show c.478-465_478-464insAAAATATATATATATATATATATATATATA TA	SLC5A4	ENSG00000100191.6	transcript	ENST00000266086.6	protein_coding	5/14			chr22	TogoVar
SLC5A8_chr12_101150493_101215238	101158598	C C	CTCTCTCT others(25): Show CTCTCTCTCTCTCTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	190	0.0053	32	c.163 others(49): Show c.1631-271_1631-270insTATATATATATATATATATAGAGAGAGA GAGA	SLC5A8	ENSG00000256870.3	transcript	ENST00000536262.3	protein_coding	13/14			chr12	TogoVar
SLC5A8_chr12_101150493_101215238	101158598	C C	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0002 a0002c0009t0002	a0002c0009t0002g0257 a0002c0009t0002g0257	1	190	0.0053	32	c.163 others(49): Show c.1631-271_1631-270insTATATATATATATATAGAGAGAGAGAGA GAGA	SLC5A8	ENSG00000256870.3	transcript	ENST00000536262.3	protein_coding	13/14			chr12	TogoVar
SLC5A8_chr12_101150493_101215238	101158598	C C	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0221 a0002c0003t0002g0221	1	190	0.0053	32	c.163 others(49): Show c.1631-271_1631-270insTATATATAGAGAGAGAGAGAGAGAGAGA GAGA	SLC5A8	ENSG00000256870.3	transcript	ENST00000536262.3	protein_coding	13/14			chr12	TogoVar
SLC5A9_chr1_48217716_48253638	48244878	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0236 a0002c0002t0003g0236	1	10	0.1000	32	c.183 others(51): Show c.1837+2263_1837+2294dupTATATATATATATATATATATATATA TATATA	SLC5A9	ENSG00000117834.13	transcript	ENST00000438567.7	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC5A9_chr1_48217716_48253638	48244878	G G	GTGTGTAT others(25): Show GTGTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA19007.hp2 NA19057.hp1 NA18972.hp1 NA19007.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0168 a0001c0001t0001g0239 a0001c0001t0001g0091 a0001c0001t0001g0168 a0001c0001t0001g0239	3	12	0.2500	32	c.183 others(51): Show c.1837+2263_1837+2264insGTGTATATATATATATATATATATAT ATATAT	SLC5A9	ENSG00000117834.13	transcript	ENST00000438567.7	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC66A1_chr1_19307326_19334300	19319605	G G	GTTTTTTT others(25): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0145 a0004c0006t0001g0145	1	180	0.0056	32	c.164 others(49): Show c.164+1780_164+1781insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	SLC66A1	ENSG00000040487.13	transcript	ENST00000375153.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC66A1_chr1_19307326_19334300	19327529	A A	ATCCCTCC others(25): Show ATCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA19083.hp1 HG00408.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0110 a0001c0001t0001g0098 a0001c0001t0001g0110	2	126	0.0159	32	c.804 others(47): Show c.804+144_804+145insCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT CC	SLC66A1	ENSG00000040487.13	transcript	ENST00000375153.8	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC66A2_chr18_79897420_79956653	79910142	C C	CAGAGTCC others(25): Show CAGAGTCCCCAACCTTCCCCACATCCTCACCAT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0025 a0001c0001t0005g0025	1	350	0.0029	32	c.609 others(49): Show c.609-5991_609-5960dupATGGTGAGGATGTGGGGAAGGTTGGGGA CTCT	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	5/5			chr18	TogoVar

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