Joint Open Genome and Omics Platform (JoGo)

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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
SH3KBP1_chrX_19528977_19892600	19551550	C C	CTTTTTTT others(32): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	155	0.0065	39	c.138 others(58): Show c.1385-1468_1385-1467insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	13/17			chrX	TogoVar
SHB_chr9_37910898_38074227	37920039	C C	CCCTGACA others(32): Show CCCTGACACTCAGGCTGAGGCCAAGGGTCTCCTCAGCTGT	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0048 a0001c0005t0005g0048	1	328	0.0030	39	c.134 others(54): Show c.1347-74_1347-36dupACAGCTGAGGAGACCCTTGGCCTCAGCCTG AGTGTCAGG	SHB	ENSG00000107338.10	transcript	ENST00000377707.4	protein_coding	5/5			chr9	TogoVar
SHC2_chr19_411589_466033	442932	T T	TGGATGGG others(32): Show TGGATGGGTGGGTGGATAGATGAGTGGATGGTGGGTGGAC	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	25	0.0400	39	c.469 others(56): Show c.469-2001_469-2000insGTCCACCCACCATCCACTCATCTATCCA CCCACCCATCC	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	1/12			chr19	TogoVar
SHCBP1L_chr1_182894865_182958166	182924975	A A	AAAGAAAG others(32): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0033 a0002c0002t0001g0033	1	285	0.0035	39	c.118 others(58): Show c.1182+4671_1182+4672insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHISA9_chr16_12896598_13245416	13071598	T T	TCCCTTCC others(32): Show TCCCTTCCTTCCTTCCTTCCTCCCTTCCTCCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02976.hp1 HG03130.hp1 others(1): Show HG02257.hp1 HG02976.hp1 HG03130.hp1 HG03225.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0006 a0001c0002t0006 a0001c0002t0013 others(1): Show a0001c0001t0006 a0001c0002t0006 a0001c0002t0013 a0002c0005t0006	a0001c0001t0006g0042 a0001c0002t0006g0116 a0001c0002t0013g0125 others(1): Show a0001c0001t0006g0042 a0001c0002t0006g0116 a0001c0002t0013g0125 a0002c0005t0006g0098	4	214	0.0187	39	c.692 others(60): Show c.692-131796_692-131795insCCCTTCCTTCCTTCCTTCCTCCCT TCCTCCCTTCCTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4			chr16	TogoVar
SHQ1_chr3_72744277_72853445	72765557	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0012 a0002c0002t0001g0012	1	97	0.0103	39	c.118 others(60): Show c.1182-14722_1182-14721insAAAAAAAAAAAAATATATATATAT ATATATATATATATA	SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding	10/10			chr3	TogoVar
SHROOM2_chrX_9781429_9954443	9816580	C C	CCTGCTGC others(32): Show CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0002 a0002c0014t0002	a0002c0014t0002g0195 a0002c0014t0002g0195	1	60	0.0167	39	c.165 others(58): Show c.165+29902_165+29903insGCTGCTGCTGCTGCTGCTGCTGCTGC TGCTGCTGCTGCT	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SHROOM2_chrX_9781429_9954443	9823106	T T	TCCTTCTC others(32): Show TCCTTCTCCCTTCTCCTTCTCCTTCTCCCTTCTCCTTCTC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00639.hp2 HG00741.hp1 others(10): Show HG00621.hp1 HG00639.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp2 HG01109.hp1 HG01167.hp1 HG01361.hp1 HG02004.hp1 HG02055.hp1 HG02970.hp2 NA19005.hp1 NA19072.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0020 a0042	a0001c0001 a0001c0003 a0002c0010 others(4): Show a0001c0001 a0001c0003 a0002c0010 a0002c0014 a0003c0005 a0020c0060 a0042c0046	a0001c0001t0001 a0001c0003t0001 a0002c0010t0003 others(4): Show a0001c0001t0001 a0001c0003t0001 a0002c0010t0003 a0002c0014t0002 a0003c0005t0020 a0020c0060t0002 a0042c0046t0003	a0001c0001t0001g0070 a0001c0001t0001g0087 a0001c0001t0001g0109 others(10): Show a0001c0001t0001g0070 a0001c0001t0001g0087 a0001c0001t0001g0109 a0001c0001t0001g0179 a0001c0001t0001g0207 a0001c0001t0001g0211 a0001c0001t0001g0223 a0001c0003t0001g0214 a0002c0010t0003g0232 a0002c0014t0002g0195 a0003c0005t0020g0099 a0020c0060t0002g0244 a0042c0046t0003g0187	13	242	0.0537	39	c.165 others(58): Show c.165+36404_165+36405insCTTCTCCTTCTCCTTCTCCCTTCTCC TTCTCCCTTCTCC	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SIGIRR_chr11_400716_419999	401785	G G	GCCCCGCT others(32): Show GCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	180	0.0056	39	c.41 others(50): Show c.4110_*4111insGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAG CGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3930		chr11	TogoVar
SIGIRR_chr11_400716_419999	402111	G G	GGCCCCGC others(32): Show GGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	232	0.0043	39	c.37 others(50): Show c.3784_*3785insGAGCGGGGCGGGTGTGAGCGGGGCCGGGGTGAGC GGGGC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3604		chr11	TogoVar
SIGIRR_chr11_400716_419999	402343	G G	GGCCCGCT others(32): Show GGCCCGCTCACCCCCGACCCGCTCACCCCCGGCCCCGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	222	0.0045	39	c.35 others(50): Show c.3552_*3553insGAGCGGGGCCGGGGGTGAGCGGGTCGGGGGTGAG CGGGC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3372		chr11	TogoVar
SIGIRR_chr11_400716_419999	410907	G G	GGGGGGTG others(32): Show GGGGGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03516.hp2 HG03225.hp2 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0020 a0001c0003t0001g0020	2	240	0.0083	39	c.-15 others(56): Show c.-153-919_-153-881dupGCCGACTGTATCCAGACATGGTCAGAGC TGGGCACCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIGIRR_chr11_400716_419999	411190	G G	GGGGGTGC others(32): Show GGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	239	0.0042	39	c.-15 others(58): Show c.-153-1164_-153-1163insGCCCGACTGCATCCAGACATGGTCAG AGCTGGGCACCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIGIRR_chr11_400716_419999	411270	C C	CGGGGGGG others(32): Show CGGGGGGGTGCCCAGCTCTGACCATGTCTGAATGCAGTCG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00323.hp2 others(15): Show HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp2 HG00741.hp2 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG02300.hp1 HG02451.hp1 HG02615.hp2 HG02809.hp2 HG02896.hp2 HG02897.hp1 HG03130.hp2 HG03492.hp2 NA18964.hp2 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0001 a0001c0001t0001 a0003c0005t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0029 others(10): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0077 a0001c0001t0001g0195 a0003c0005t0001g0032 a0003c0005t0001g0073 a0003c0005t0001g0076 a0003c0005t0001g0082	18	145	0.1241	39	c.-15 others(58): Show c.-153-1244_-153-1243insCGACTGCATTCAGACATGGTCAGAGC TGGGCACCCCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIGLEC10_chr19_51405020_51422642	51416550	A A	AGCTTCCT others(32): Show AGCTTCCTCTCCCTGGTGCTGTCGGCTCCTGGGACCCCAC	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	418	0.0024	39	c.706 others(54): Show c.706+115_706+116insGTGGGGTCCCAGGAGCCGACAGCACCAGGG AGAGGAAGC	SIGLEC10	ENSG00000142512.15	transcript	ENST00000339313.10	protein_coding	3/10			chr19	TogoVar
SIK2_chr11_111597449_111735855	111628416	A A	ATCTTCTT others(32): Show ATCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0091 a0001c0001t0002g0091	1	23	0.0435	39	c.316 others(56): Show c.316+8018_316+8019insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTT	SIK2	ENSG00000170145.5	transcript	ENST00000304987.4	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
SIPA1L3_chr19_37902208_38213369	37968086	T T	TTTCTTTC others(32): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0126 a0005c0007t0002g0126	1	162	0.0062	39	c.-37 others(60): Show c.-379+60730_-379+60731insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTT	SIPA1L3	ENSG00000105738.11	transcript	ENST00000222345.11	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIRT5_chr6_13569601_13620158	13573778	T T	TGCCAAGT others(32): Show TGCCAAGTGGTGCTGGTGGCAAGCCGGAATCCAAGAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0039 a0004c0007t0039	a0004c0007t0039g0229 a0004c0007t0039g0229	1	392	0.0026	39	c.-11 others(50): Show c.-1161_-1160insGCCAAGTGGTGCTGGTGGCAAGCCGGAATCCAAG AAAAG	SIRT5	ENSG00000124523.17	transcript	ENST00000606117.2	protein_coding		822		chr6	TogoVar
SKAP1_chr17_48128442_48435214	48413523	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0075 a0002c0002t0001g0075	1	194	0.0052	39	c.46+ others(56): Show c.46+16551_46+16552insATATATATATATATATTTTTTTTTTTTT TTTTTTTTTTT	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	1/12			chr17	TogoVar
SKAP1_chr17_48128442_48435214	48413523	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0097 a0002c0002t0001g0097	1	194	0.0052	39	c.46+ others(56): Show c.46+16551_46+16552insATATATATATATATATATTTTTTTTTTT TTTTTTTTTTT	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	1/12			chr17	TogoVar
SKAP1_chr17_48128442_48435214	48413523	A A	AAAAAAAT others(32): Show AAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0098 a0002c0002t0001g0098	1	194	0.0052	39	c.46+ others(56): Show c.46+16551_46+16552insATATATATATATATATATATATATATAT ATATATTTTTT	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	1/12			chr17	TogoVar
SKI_chr1_2223319_2315213	2280731	G G	GAGCGGAC others(32): Show GAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTC	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0292 a0001c0001t0003g0292	1	328	0.0030	39	c.970 others(58): Show c.970-22245_970-22244insCGGACGCCCGAGAGGACAGGCGGCGG CGGCGATCTTCAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC12A2_chr5_128078766_128194677	128126966	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATAAATTTTT	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0040 a0001c0002t0040	a0001c0002t0040g0160 a0001c0002t0040g0160	1	74	0.0135	39	c.104 others(58): Show c.1049-4100_1049-4099insATATATATATATATATATATATATAT ATATAAATTTTTT	SLC12A2	ENSG00000064651.14	transcript	ENST00000262461.7	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC12A2_chr5_128078766_128194677	128126966	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATAATTTTTT	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0058 a0001c0002t0058	a0001c0002t0058g0024 a0001c0002t0058g0024	1	74	0.0135	39	c.104 others(58): Show c.1049-4100_1049-4099insATATATATATATATATATATATATAT ATATAATTTTTTT	SLC12A2	ENSG00000064651.14	transcript	ENST00000262461.7	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070414	G G	GGGCATCA others(32): Show GGGCATCACACTTATGCAGCCCCAGTGAGCCCCAGCACAC	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0068 a0002c0008t0002g0068	1	116	0.0086	39	c.224 others(58): Show c.2241+3218_2241+3219insGTGTGCTGGGGCTCACTGGGGCTGCA TAAGTGTGATGCC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070754	G G	GGCATCAC others(32): Show GGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACAC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0038 a0002c0038	a0002c0038t0014 a0002c0038t0014	a0002c0038t0014g0118 a0002c0038t0014g0118	1	118	0.0085	39	c.224 others(58): Show c.2241+2878_2241+2879insGTGTGCTGGGGGCTCACTGGGGCTGC ATAAGTGTGATGC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070950	C C	CCCCAGTG others(32): Show CCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0006 a0001c0009t0006	a0001c0009t0006g0017 a0001c0009t0006g0017	1	117	0.0085	39	c.224 others(58): Show c.2241+2682_2241+2683insCTGCATAAGTGTGATGCCGTGTGCTG GGGGCTCACTGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071056	G G	GGCATCAC others(32): Show GGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0004 a0002c0008t0004	a0002c0008t0004g0080 a0002c0008t0004g0080	1	117	0.0085	39	c.224 others(58): Show c.2241+2576_2241+2577insGTGTGCTGGGGGCTCACTGGGGCTGC ATAAGTGTGATGC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072066	G G	GGCATCAC others(32): Show GGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0012 a0001c0007t0012	a0001c0007t0012g0001 a0001c0007t0012g0001	1	116	0.0086	39	c.224 others(58): Show c.2241+1566_2241+1567insGTGTGCTGGGGGCTCACTGGGGCTGC ATAAGTGTGATGC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072872	G G	GGCATCAC others(32): Show GGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0012 a0001c0007t0012	a0001c0007t0012g0001 a0001c0007t0012g0001	1	117	0.0085	39	c.224 others(56): Show c.2241+760_2241+761insGTGTGCTGGGGGCTCACTGGGGCTGCAT AAGTGTGATGC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC15A4_chr12_128788194_128828958	128828130	A A	ACCCCCCC others(32): Show ACCCCCCCCCCCCCCCCCTCCCCCCCCCCCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0212 a0001c0002t0002g0212	1	416	0.0024	39	c.-41 others(50): Show c.-4188_-4187insGGGGGGGGGGGGGGGGGGGGGAGGGGGGGGGGGG GGGGG	SLC15A4	ENSG00000139370.12	transcript	ENST00000266771.10	protein_coding		4173		chr12	TogoVar
SLC16A2_chrX_74416493_74538916	74439158	C C	CTCTTTCT others(32): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	131	0.0076	39	c.430 others(58): Show c.430+17120_430+17121insCTTTCTTTCTTCTTTCTTTCTTTCTT TCTTTCTTTCTTT	SLC16A2	ENSG00000147100.11	transcript	ENST00000587091.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
SLC16A2_chrX_74416493_74538916	74439161	T T	TTTCTTTC others(32): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02922.hp2 HG02896.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0199 a0001c0001t0002g0200 a0001c0001t0001g0199 a0001c0001t0002g0200	2	212	0.0094	39	c.430 others(58): Show c.430+17120_430+17121insCTTTCTTTCTTTCTTCTTTCTTTCTT TCTTTCTTTCTTT	SLC16A2	ENSG00000147100.11	transcript	ENST00000587091.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
SLC16A2_chrX_74416493_74538916	74439169	T T	TTTCTTTC others(32): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	209	0.0048	39	c.430 others(58): Show c.430+17120_430+17121insCTTTCTTTCTTTCTTTCTTTCTTCTT TCTTTCTTTCTTT	SLC16A2	ENSG00000147100.11	transcript	ENST00000587091.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
SLC16A4_chr1_110357857_110396026	110380058	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18995.hp1 NA19004.hp1 others(2): Show NA18967.hp2 NA18995.hp1 NA19004.hp1 NA19062.hp2 NA19082.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0002c0003t0004 a0001c0001t0001 a0001c0001t0003 a0002c0003t0004	a0001c0001t0001g0251 a0001c0001t0001g0260 a0001c0001t0001g0261 others(2): Show a0001c0001t0001g0251 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0003g0252 a0002c0003t0004g0113	5	171	0.0292	39	c.527 others(54): Show c.527-703_527-702insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	SLC16A4	ENSG00000168679.18	transcript	ENST00000369779.9	protein_coding	5/8			chr1	TogoVar
SLC18B1_chr6_132764370_132803637	132792356	G G	GAAAGAAG others(32): Show GAAAGAAGGAAAGAAGGAAAGAAAGAAAGAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0005 a0003c0006t0005	a0003c0006t0005g0059 a0003c0006t0005g0059	1	256	0.0039	39	c.184 others(56): Show c.184-2085_184-2084insTCTTTCTTTCTCTTTCTTTCTTTCCTTC TTTCCTTCTTT	SLC18B1	ENSG00000146409.12	transcript	ENST00000275227.9	protein_coding	2/13			chr6	TogoVar
SLC1A5_chr19_46769883_46793594	46784871	A A	ACACCCAC others(32): Show ACACCCACCCAACAGCAAACTATAACCAGACAGCCACCAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0020 a0004c0010t0020	a0004c0010t0020g0075 a0004c0010t0020g0075	1	426	0.0023	39	c.567 others(54): Show c.567-313_567-312insCTGGTGGCTGTCTGGTTATAGTTTGCTGTT GGGTGGGTG	SLC1A5	ENSG00000105281.12	transcript	ENST00000542575.6	protein_coding	1/7			chr19	TogoVar
SLC1A7_chr1_53082183_53147638	53136560	T T	TATATAAT others(32): Show TATATAATATATAAACATATATAATATATAAACATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01074.hp1 HG01099.hp2 others(13): Show HG00408.hp2 HG01074.hp1 HG01099.hp2 HG01243.hp1 HG01255.hp2 HG02717.hp2 HG02895.hp1 HG02897.hp2 HG04204.hp2 NA18906.hp1 NA18943.hp2 NA18952.hp1 NA18983.hp1 NA19030.hp1 NA19043.hp2 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0006 others(4): Show a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0008 a0001c0028 a0002c0001	a0001c0002t0002 a0001c0003t0022 a0001c0006t0006 others(6): Show a0001c0002t0002 a0001c0003t0022 a0001c0006t0006 a0001c0007t0021 a0001c0008t0005 a0001c0008t0012 a0001c0028t0016 a0002c0001t0006 a0002c0001t0024	a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0035 others(12): Show a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0035 a0001c0003t0022g0351 a0001c0006t0006g0344 a0001c0006t0006g0345 a0001c0007t0021g0350 a0001c0008t0005g0034 a0001c0008t0012g0030 a0001c0028t0016g0036 a0002c0001t0006g0029 a0002c0001t0006g0342 a0002c0001t0006g0343 a0002c0001t0006g0349 a0002c0001t0024g0353	16	83	0.1928	39	c.136 others(56): Show c.136-2132_136-2131insTATATATGTTTATATATTATATATGTTT ATATATTATAT	SLC1A7	ENSG00000162383.13	transcript	ENST00000371494.9	protein_coding	1/10			chr1	TogoVar
SLC1A7_chr1_53082183_53147638	53136560	T T	TATATTAT others(32): Show TATATTATATATAAACATATATAATATATAAACATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG00438.hp2 others(62): Show HG00323.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp2 HG00741.hp2 HG01070.hp1 HG01255.hp1 HG01358.hp1 HG01361.hp1 HG01515.hp1 HG01978.hp2 HG02027.hp1 HG02080.hp1 HG02145.hp2 HG02451.hp2 HG02622.hp1 HG03098.hp2 HG03139.hp2 HG03225.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03688.hp1 HG03704.hp2 HG03831.hp2 HG03942.hp2 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp1 NA18946.hp2 NA18950.hp2 NA18951.hp1 NA18961.hp2 NA18964.hp1 NA18968.hp1 NA18968.hp2 NA18970.hp2 NA18974.hp1 NA18980.hp1 NA18980.hp2 NA18986.hp2 NA18991.hp1 NA18998.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19010.hp2 NA19011.hp2 NA19063.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19078.hp2 NA19080.hp2 NA19085.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0007	a0001c0002 a0001c0003 a0001c0006 others(8): Show a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0010 a0001c0012 a0001c0014 a0002c0001 a0003c0013 a0004c0030 a0007c0027	a0001c0002t0001 a0001c0002t0002 a0001c0002t0009 others(11): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0009 a0001c0003t0003 a0001c0003t0005 a0001c0006t0001 a0001c0007t0004 a0001c0010t0002 a0001c0012t0001 a0001c0014t0005 a0002c0001t0001 a0003c0013t0001 a0004c0030t0003 a0007c0027t0002	a0001c0002t0001g0170 a0001c0002t0002g0004 a0001c0002t0002g0016 others(52): Show a0001c0002t0001g0170 a0001c0002t0002g0004 a0001c0002t0002g0016 a0001c0002t0002g0019 a0001c0002t0002g0031 a0001c0002t0002g0167 a0001c0002t0002g0177 a0001c0002t0002g0181 a0001c0002t0002g0184 a0001c0002t0002g0185 a0001c0002t0002g0195 a0001c0002t0002g0197 a0001c0002t0002g0199 a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0002g0202 a0001c0002t0002g0203 a0001c0002t0002g0205 a0001c0002t0002g0207 a0001c0002t0002g0210 a0001c0002t0002g0216 a0001c0002t0009g0180 a0001c0003t0003g0017 a0001c0003t0003g0186 a0001c0003t0003g0191 a0001c0003t0003g0194 a0001c0003t0005g0166 a0001c0003t0005g0168 a0001c0003t0005g0176 a0001c0003t0005g0187 a0001c0006t0001g0003 a0001c0006t0001g0005 a0001c0006t0001g0173 a0001c0006t0001g0179 a0001c0006t0001g0204 a0001c0006t0001g0206 a0001c0006t0001g0212 a0001c0006t0001g0214 a0001c0007t0004g0178 a0001c0007t0004g0182 a0001c0010t0002g0169 a0001c0010t0002g0190 a0001c0012t0001g0198 a0001c0014t0005g0208 a0002c0001t0001g0018 a0002c0001t0001g0175 a0002c0001t0001g0183 a0002c0001t0001g0188 a0002c0001t0001g0189 a0002c0001t0001g0196 a0002c0001t0001g0209 a0002c0001t0001g0215 a0003c0013t0001g0213 a0004c0030t0003g0211 a0007c0027t0002g0171	65	132	0.4924	39	c.136 others(56): Show c.136-2132_136-2131insTATATATGTTTATATATTATATATGTTT ATATATAATAT	SLC1A7	ENSG00000162383.13	transcript	ENST00000371494.9	protein_coding	1/10			chr1	TogoVar
SLC22A12_chr11_64586220_64607344	64595939	G G	GATGGATG others(32): Show GATGGATGGATGGAATGGATGGATGGTTGGAATAGATGGA	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0178 a0001c0004t0001g0178	1	386	0.0026	39	c.830 others(56): Show c.830+2149_830+2150insATGGATGGATGGTTGGAATAGATGGAAT GGATGGATGGA	SLC22A12	ENSG00000197891.12	transcript	ENST00000377574.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC22A16_chr6_110419687_110481613	110454824	T T	TTATATAA others(32): Show TTATATAATATATATTATAATATATATAATATATATATTA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00738.hp2 HG01069.hp1 others(28): Show HG00639.hp1 HG00738.hp2 HG01069.hp1 HG01109.hp1 HG01261.hp2 HG01516.hp1 HG01517.hp1 HG02004.hp1 HG02083.hp2 HG02165.hp2 HG02273.hp1 HG02486.hp1 HG03098.hp2 NA18747.hp2 NA18942.hp1 NA18966.hp2 NA18969.hp2 NA18975.hp1 NA18979.hp1 NA18988.hp2 NA18994.hp1 NA19003.hp1 NA19011.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19070.hp1 NA19077.hp1 NA19080.hp1 NA19084.hp2 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0002 a0002c0002t0001 a0003c0003t0001 a0001c0001t0002 a0002c0002t0001 a0003c0003t0001	a0001c0001t0002g0168 a0002c0002t0001g0383 a0003c0003t0001g0008 others(25): Show a0001c0001t0002g0168 a0002c0002t0001g0383 a0003c0003t0001g0008 a0003c0003t0001g0011 a0003c0003t0001g0015 a0003c0003t0001g0032 a0003c0003t0001g0127 a0003c0003t0001g0140 a0003c0003t0001g0200 a0003c0003t0001g0201 a0003c0003t0001g0202 a0003c0003t0001g0204 a0003c0003t0001g0205 a0003c0003t0001g0208 a0003c0003t0001g0282 a0003c0003t0001g0283 a0003c0003t0001g0284 a0003c0003t0001g0285 a0003c0003t0001g0287 a0003c0003t0001g0288 a0003c0003t0001g0291 a0003c0003t0001g0293 a0003c0003t0001g0294 a0003c0003t0001g0296 a0003c0003t0001g0297 a0003c0003t0001g0298 a0003c0003t0001g0300 a0003c0003t0001g0301	31	83	0.3735	39	c.533 others(56): Show c.533+1713_533+1714insTAATATATATATTATATATATTATAATA TATATTATATA	SLC22A16	ENSG00000004809.14	transcript	ENST00000368919.8	protein_coding	2/7			chr6	TogoVar
SLC22A16_chr6_110419687_110481613	110454831	A A	ATATATAT others(32): Show ATATATATTATAATATATATAATATATATATTATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01192.hp2 HG01256.hp1 HG01168.hp1 HG01192.hp2 HG01256.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0014 a0003c0003t0001g0295 a0003c0003t0001g0014 a0003c0003t0001g0295	3	412	0.0073	39	c.533 others(56): Show c.533+1706_533+1707insATATATATAATATATATATTATATATAT TATAATATATA	SLC22A16	ENSG00000004809.14	transcript	ENST00000368919.8	protein_coding	2/7			chr6	TogoVar
SLC22A16_chr6_110419687_110481613	110454886	A A	ATATATAT others(32): Show ATATATATAATATATGTTATATTATATATAATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0026 a0002c0002t0001g0026	1	414	0.0024	39	c.533 others(56): Show c.533+1651_533+1652insATATATATATTATATATAATATAACATA TATTATATATA	SLC22A16	ENSG00000004809.14	transcript	ENST00000368919.8	protein_coding	2/7			chr6	TogoVar
SLC22A1_chr6_160116815_160163718	160120335	C C	CCTTCTTG others(32): Show CCTTCTTGTGTCAGTAGCTTATTCACAAAGAAAACAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0284	1	414	0.0024	39	c.-16 others(50): Show c.-1601_-1600insCTTCTTGTGTCAGTAGCTTATTCACAAAGAAAAC AAAAT	SLC22A1	ENSG00000175003.15	transcript	ENST00000366963.9	protein_coding		1479		chr6	TogoVar
SLC22A23_chr6_3263973_3462050	3310210	C C	CGGGAGCA others(32): Show CGGGAGCACCCTGTCTCCCACTGGAGCACCCTGTCTCCCA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp2 HG02451.hp1 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0028 a0001c0001t0009 a0001c0001t0028	a0001c0001t0009g0030 a0001c0001t0028g0015 a0001c0001t0009g0030 a0001c0001t0028g0015	2	208	0.0096	39	c.108 others(60): Show c.1083-12031_1083-11993dupTGGGAGACAGGGTGCTCCAGTGGG AGACAGGGTGCTCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	4/9			chr6	TogoVar
SLC24A2_chr9_19502455_19794037	19636315	T T	TTTTCTTT others(32): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0010 a0001c0021t0010	a0001c0021t0010g0150 a0001c0021t0010g0150	1	112	0.0089	39	c.931 others(58): Show c.931-14017_931-14016insGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAA	SLC24A2	ENSG00000155886.12	transcript	ENST00000341998.7	protein_coding	2/10			chr9	TogoVar
SLC25A11_chr17_4932130_4945046	4933837	A A	AGAGCCCA others(32): Show AGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02135.hp2 NA18950.hp1 others(13): Show HG02015.hp1 HG02135.hp2 NA18950.hp1 NA18960.hp1 NA18961.hp1 NA18965.hp2 NA18969.hp1 NA18986.hp1 NA18993.hp1 NA19007.hp2 NA19009.hp2 NA19012.hp1 NA19057.hp2 NA19066.hp1 NA19077.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	16	430	0.0372	39	c.38 others(50): Show c.3865_*3903dupCGGGGTGGTCGGGCTGGGGGCGGGCTCTGAGGTG GGCTC	SLC25A11	ENSG00000108528.14	transcript	ENST00000225665.12	protein_coding		3292		chr17	TogoVar
SLC25A11_chr17_4932130_4945046	4933837	A A	AGAGCCCA others(32): Show AGAGCCCACCTCAGAGCCTGCCCCCAGCCCGACCACCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp2 NA19075.hp2 NA18942.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	2	416	0.0048	39	c.39 others(50): Show c.3903_*3904insCGGGGTGGTCGGGCTGGGGGCAGGCTCTGAGGTG GGCTC	SLC25A11	ENSG00000108528.14	transcript	ENST00000225665.12	protein_coding		3292		chr17	TogoVar
SLC25A15_chr13_40784611_40817460	40806829	G G	GGGCTGCT others(32): Show GGGCTGCTTAGAAGAAATTCTCCCGCATCCCTGGTGCTCT	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0074 a0001c0001t0003g0074	1	414	0.0024	39	c.453 others(54): Show c.453-463_453-425dupGCTGCTTAGAAGAAATTCTCCCGCATCCCT GGTGCTCTG	SLC25A15	ENSG00000102743.16	transcript	ENST00000338625.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLC25A36_chr3_140936836_140985995	140983539	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	266	0.0038	39	c.70 others(50): Show c.7086_*7087insAAAAAAAAAAAAAAATATATATATATATATATAT ATATG	SLC25A36	ENSG00000114120.14	transcript	ENST00000324194.12	protein_coding		2545		chr3	TogoVar

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