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
SIGIRR_chr11_400716_419999	411270	C C	CGGGGGGG others(35): Show CGGGGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGG	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	128	0.0078	42	c.-15 others(61): Show c.-153-1244_-153-1243insCCCCGACTGCATCCAGACATGGTCAG AGCTGGGCACCCCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIGIRR_chr11_400716_419999	412047	C C	CGGGGGGG others(35): Show CGGGGGGGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTCG	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	136	0.0074	42	c.-15 others(61): Show c.-153-2021_-153-2020insCGACTGCATCCAGACATGGTCAGAGC TGGGCACCCCCCCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIK1_chr21_43409483_43432131	43418729	G G	GGGGGGGG others(35): Show GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0009 a0001c0001t0003g0009	1	32	0.0313	42	c.146 others(59): Show c.1463-189_1463-188insTCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCC	SIK1	ENSG00000142178.9	transcript	ENST00000270162.8	protein_coding	11/13			chr21	TogoVar
SIK3_chr11_116838402_117103428	117013901	G G	GGTGTGTG others(35): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0160 a0001c0001t0003g0160	1	320	0.0031	42	c.274 others(61): Show c.274-56838_274-56837insACACACACATACACACACACACACAC ACACACACACACACAC	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIMC1_chr5_176233424_176350989	176305530	T T	TGGGGGGT others(35): Show TGGGGGGTCAGCCCCGACGCCCGGCCAGCCGTGCCATCCGGGG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	347	0.0029	42	c.173 others(61): Show c.1735-8155_1735-8154insTCAGCCCCGACGCCCGGCCAGCCGTG CCATCCGGGGGGGGGG	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SIMC1_chr5_176233424_176350989	176305706	T T	TGGGGGGT others(35): Show TGGGGGGTCAGCCCCGACGCCCGGCCAGCCGTGCCATCCGGGG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02965.hp2 HG02486.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0277 a0001c0001t0001g0258 a0001c0001t0001g0277	2	293	0.0068	42	c.173 others(61): Show c.1735-7979_1735-7978insTCAGCCCCGACGCCCGGCCAGCCGTG CCATCCGGGGGGGGGG	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SINHCAF_chr12_31275584_31331150	31275854	C C	CAGGCTGA others(35): Show CAGGCTGAGCAGGAGCAGATCAGGGAGGGTGGGCCAGGCAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	348	0.0029	42	c.68 others(53): Show c.6857_*6858insCTTTGCCTGGCCCACCCTCCCTGATCTGCTCCTG CTCAGCCT	SINHCAF	ENSG00000139146.14	transcript	ENST00000337682.9	protein_coding		4729		chr12	TogoVar
SIPA1L1_chr14_71315476_71746209	71446894	G G	GTTTTTTT others(35): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0159 a0001c0001t0003g0159	1	90	0.0111	42	c.-46 others(63): Show c.-464-65838_-464-65837insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT	SIPA1L1	ENSG00000197555.10	transcript	ENST00000381232.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
SIX5_chr19_45759785_45774252	45759810	T T	TATTTAGA others(35): Show TATTTAGACTGAGTTTCCCTGTTGTCGCCCAGGCTGGGGTGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0014 a0003c0003t0014	a0003c0003t0014g0033 a0003c0003t0014g0033	1	412	0.0024	42	c.56 others(53): Show c.5690_*5691insTGCACCCCAGCCTGGGCGACAACAGGGAAACTCA GTCTAAAT	SIX5	ENSG00000177045.11	transcript	ENST00000317578.7	protein_coding		4974		chr19	TogoVar
SKA1_chr18_50370046_50399168	50389553	A A	AGTTAATA others(35): Show AGTTAATAGTACAAAAGCTACACAACAGATACCACAACATAAC	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0066 a0003c0003t0004g0066	1	386	0.0026	42	c.450 others(59): Show c.450-1571_450-1570insGTTAATAGTACAAAAGCTACACAACAGA TACCACAACATAAC	SKA1	ENSG00000154839.10	transcript	ENST00000285116.8	protein_coding	5/6			chr18	TogoVar
SKAP1_chr17_48128442_48435214	48413523	A A	AAAAAAAA others(35): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0085 a0001c0003t0001g0085	1	194	0.0052	42	c.46+ others(59): Show c.46+16551_46+16552insATATATATATATATATTTTTTTTTTTTT TTTTTTTTTTTTTT	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	1/12			chr17	TogoVar
SKAP1_chr17_48128442_48435214	48413523	A A	AAAAAAAA others(35): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0095 a0002c0002t0001g0095	1	194	0.0052	42	c.46+ others(59): Show c.46+16551_46+16552insATATATATATATATATATATATATATAT TTTTTTTTTTTTTT	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	1/12			chr17	TogoVar
SKI_chr1_2223319_2315213	2280735	G G	GGACGCCC others(35): Show GGACGCCCGAGAAGACATGCGGCGGCGGCGATCTTCAGAGAGC	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0126 a0001c0001t0003g0126	1	132	0.0076	42	c.970 others(61): Show c.970-22243_970-22242insGACGCCCGAGAAGACATGCGGCGGCG GCGATCTTCAGAGAGC	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6			chr1	TogoVar
SKI_chr1_2223319_2315213	2280735	G G	GGACGCCC others(35): Show GGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0046 a0001c0001t0010g0046	1	132	0.0076	42	c.970 others(61): Show c.970-22243_970-22242insGACGCCCGAGAGGACAGGCGGCGGCG GCGATCTTCAGAGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6			chr1	TogoVar
SKI_chr1_2223319_2315213	2281252	G G	GGACGCCC others(35): Show GGACGCCCGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0108 a0001c0001t0002g0108	1	182	0.0055	42	c.970 others(61): Show c.970-21726_970-21725insGACGCCCGAGAAGACAGGTGGTGGCG GAGATCTTCAGAGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6			chr1	TogoVar
SKI_chr1_2223319_2315213	2281339	G G	GGACGCCC others(35): Show GGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0135 a0001c0001t0015g0135	1	147	0.0068	42	c.970 others(61): Show c.970-21639_970-21638insGACGCCCGAGAAGACAGGCGGTGGCG GAGATCTTCAGAGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6			chr1	TogoVar
SKI_chr1_2223319_2315213	2281687	C C	CGCCCGAG others(35): Show CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0075 a0001c0001t0013g0075	1	252	0.0040	42	c.970 others(61): Show c.970-21283_970-21282insAGACAGGCGGTGGCGGAGATCTTCAG AGAGAGATGCCCGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282114	G G	GGACGCCC others(35): Show GGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0125 a0001c0001t0015g0125	1	147	0.0068	42	c.970 others(61): Show c.970-20864_970-20863insGACGCCCGAGAAGACAGGCGGTGGCG GAGATCTTCAGAGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6			chr1	TogoVar
SKI_chr1_2223319_2315213	2309780	G G	GCCCCCCC others(35): Show GCCCCCCCCCACCCCCTCCTCCCTGTGGGTCCGAACCCCGGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0086 a0001c0001t0048g0086	1	54	0.0185	42	c.30 others(53): Show c.3023_*3024insCACCCCCTCCTCCCTGTGGGTCCGAACCCCGGCC CCCCCCCC	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	7/7	3024	INFO_REALIGN_3_PRIME	chr1	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACACACA others(35): Show TACACACACACACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19058.hp2 NA19063.hp1 NA19085.hp1 others(1): Show NA19058.hp2 NA19063.hp1 NA19085.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0088 a0001c0001t0001g0108 a0001c0001t0001g0133 others(1): Show a0001c0001t0001g0088 a0001c0001t0001g0108 a0001c0001t0001g0133 a0001c0001t0003g0015	4	98	0.0408	42	c.47 others(53): Show c.4709_*4710insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACATACA others(35): Show TACATACATACACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	95	0.0105	42	c.47 others(53): Show c.4709_*4710insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT ATGTATGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACATACA others(35): Show TACATACATACATACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0299 a0001c0001t0001g0299	1	95	0.0105	42	c.47 others(53): Show c.4709_*4710insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGT ATGTATGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACATACA others(35): Show TACATACATACATACATACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0286 a0005c0007t0001g0286	1	95	0.0105	42	c.47 others(53): Show c.4709_*4710insGTGTGTGTGTGTGTGTGTGTGTGTGTATGTATGT ATGTATGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACATACA others(35): Show TACATACATACATATACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp1 NA19065.hp1 NA19090.hp2 NA18980.hp1 NA19065.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0297 a0001c0001t0001g0303 a0001c0001t0001g0285 a0001c0001t0001g0297 a0001c0001t0001g0303	3	97	0.0309	42	c.47 others(53): Show c.4709_*4710insGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATGT ATGTATGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACATACA others(35): Show TACATACATATACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0213 a0001c0001t0007g0213	1	95	0.0105	42	c.47 others(53): Show c.4709_*4710insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAT ATGTATGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLAIN1_chr13_77692687_77769229	77704819	G G	GTATATAT others(35): Show GTATATATACATAGAAACTGTATATACAGAGGTTTTATATGTA	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	298	0.0034	42	c.626 others(59): Show c.626+6287_626+6328dupTACATAGAAACTGTATATACAGAGGTTT TATATGTATATATA	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLC10A6_chr4_86818468_86854384	86837316	A A	AGGAAGGA others(35): Show AGGAAGGAAGGGAGGGAGGGAGGGAGGAAGAGGAAGGAAGTAG	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	346	0.0029	42	c.378 others(59): Show c.378-3893_378-3892insCTACTTCCTTCCTCTTCCTCCCTCCCTC CCTCCCTTCCTTCC	SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5			chr4	TogoVar
SLC12A1_chr15_48201302_48309078	48240044	T T	TATATATA others(35): Show TATATATATATATATCCATATATATATATATATATATATATCC	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0071 a0001c0002t0001g0071	1	264	0.0038	42	c.121 others(61): Show c.1216-1467_1216-1466insATATATATATCCATATATATATATAT ATATATATATCCATAT	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	9/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A6_chr15_34224784_34342781	34340745	T T	TGGGGGGG others(35): Show TGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0072 a0001c0001t0021g0072	1	272	0.0037	42	c.-34 others(53): Show c.-3487_-3486insTCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCC	SLC12A6	ENSG00000140199.13	transcript	ENST00000354181.8	protein_coding		2965		chr15	TogoVar
SLC12A7_chr5_1045384_1117063	1070032	T T	TGCAGCCC others(35): Show TGCAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACTTAAC	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0069 a0002c0002t0002g0069	1	117	0.0085	42	c.224 others(61): Show c.2241+3600_2241+3601insGTTAAGTGTGATGCCGTGTGCTGGGG GCTCACTGGGGGCTGC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070208	G G	GGGCATCA others(35): Show GGGCATCACACTTAACGCAGGCCCCAGTGAGCCCCCAGCACAC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0001 a0002c0016t0001	a0002c0016t0001g0057 a0002c0016t0001g0057	1	115	0.0087	42	c.224 others(61): Show c.2241+3424_2241+3425insGTGTGCTGGGGGCTCACTGGGGCCTG CGTTAAGTGTGATGCC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070473	G G	GCCCCAGT others(35): Show GCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0022 a0002c0022	a0002c0022t0016 a0002c0022t0016	a0002c0022t0016g0065 a0002c0022t0016g0065	1	55	0.0182	42	c.224 others(61): Show c.2241+3118_2241+3159dupGCTGCATAAGTGTGATGCCCGTGTGC TGGGGGCTCACTGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070486	C C	CCCAGCAC others(35): Show CCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0001 a0002c0016t0001	a0002c0016t0001g0057 a0002c0016t0001g0057	1	118	0.0085	42	c.224 others(61): Show c.2241+3146_2241+3147insCGGCTCACTGGGGGCTGCATAAGTGT GATGCCCGTGTGCTGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070847	C C	CGGGCATC others(35): Show CGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	57	0.0175	42	c.224 others(61): Show c.2241+2785_2241+2786insCGTGTGCTGGGGGCTCACTGGGGCTG CATAAGTGTGATGCCC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071352	C C	CGGGCATC others(35): Show CGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0005 a0001c0010t0005	a0001c0010t0005g0024 a0001c0010t0005g0024	1	68	0.0147	42	c.224 others(61): Show c.2241+2280_2241+2281insCGTGTGCTGGGGGCTCACTGGGGCTG CATAAGTGTGATGCCC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071435	G G	GGGCATCA others(35): Show GGGCATCACACTTAACGCAGCCCCCAGTGAGCCCCCAGCACAC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0062 a0002c0008t0002g0062	1	117	0.0085	42	c.224 others(61): Show c.2241+2197_2241+2198insGTGTGCTGGGGGCTCACTGGGGGCTG CGTTAAGTGTGATGCC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071517	C C	CGGCATCA others(35): Show CGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0001 a0002c0015t0001	a0002c0015t0001g0027 a0002c0015t0001g0027	1	72	0.0139	42	c.224 others(61): Show c.2241+2115_2241+2116insCGTGTGCTGGGGGCTCACTGGGGGCT GCATAAGTGTGATGCC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071903	T T	TGCAGCCC others(35): Show TGCAGCCCCCAGTGAGCCTCCAGCACACGGCATCACACTTAAC	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0045 a0002c0002t0002g0045	1	115	0.0087	42	c.224 others(61): Show c.2241+1729_2241+1730insGTTAAGTGTGATGCCGTGTGCTGGAG GCTCACTGGGGGCTGC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071931	G G	GGGCATCA others(35): Show GGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0083 a0002c0002t0002g0083	1	115	0.0087	42	c.224 others(61): Show c.2241+1701_2241+1702insTGTGTGCTGGGGGCTCACTGGGGGCT GCATAAGTGTGATGCC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071991	G G	GCCCCAGT others(35): Show GCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGC	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	74	0.0135	42	c.224 others(61): Show c.2241+1641_2241+1642insGCTGCATAAGTGTGATGCCCGTGTGC TGGGGGCTCACTGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072229	G G	GAGCCCCC others(35): Show GAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACTTAACGC	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0068 a0002c0008t0002g0068	1	96	0.0104	42	c.224 others(61): Show c.2241+1403_2241+1404insGCGTTAAGTGTGATGCCGTGTGCTGG GGGCTCACTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072404	T T	TGCAGCCC others(35): Show TGCAGCCCCCAGTGAGCCTCCAGCACACGGCATCACACTTAAC	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0045 a0002c0002t0002g0045	1	115	0.0087	42	c.224 others(61): Show c.2241+1228_2241+1229insGTTAAGTGTGATGCCGTGTGCTGGAG GCTCACTGGGGGCTGC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072459	G G	GAGCCCCC others(35): Show GAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGC	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0070 a0002c0004t0001g0070	1	102	0.0098	42	c.224 others(61): Show c.2241+1132_2241+1173dupGCATAAGTGTGATGCCCGTGTGCTGG GGGCTCACTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072605	G G	GAGCCCCC others(35): Show GAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0015 a0002c0015t0015	a0002c0015t0015g0085 a0002c0015t0015g0085	1	99	0.0101	42	c.224 others(60): Show c.2241+986_2241+1027dupGCATAAGTGTGATGCCCGTGTGCTGGG GGCTCACTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072846	G G	GAGCCCCC others(35): Show GAGCCCCCAGTGAGCCCCCAGCACACGGGTATCACACTTATGC	intron_variant intron_variant	MODIFIER	HG03654.hp1 NA19030.hp1 HG03654.hp1 NA19030.hp1	a0002 a0002	a0002c0025 a0002c0038 a0002c0025 a0002c0038	a0002c0025t0004 a0002c0038t0014 a0002c0025t0004 a0002c0038t0014	a0002c0025t0004g0061 a0002c0038t0014g0118 a0002c0025t0004g0061 a0002c0038t0014g0118	2	107	0.0187	42	c.224 others(59): Show c.2241+786_2241+787insGCATAAGTGTGATACCCGTGTGCTGGGG GCTCACTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072981	T T	TGCAGCCC others(35): Show TGCAGCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTAAC	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0010 a0002c0016t0010	a0002c0016t0010g0082 a0002c0016t0010g0082	1	116	0.0086	42	c.224 others(59): Show c.2241+651_2241+652insGTTAAGTGTGATGCCCGTGTGCTGGGGG CTCACTGGGGCTGC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1073009	G G	GGGCATCA others(35): Show GGGCATCACACTTAACGCAGCCCCCAGTGAGCCCCCAGCACAC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0062 a0002c0008t0002g0062	1	117	0.0085	42	c.224 others(59): Show c.2241+623_2241+624insGTGTGCTGGGGGCTCACTGGGGGCTGCG TTAAGTGTGATGCC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1073286	C C	CATCACAC others(35): Show CATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGT	intron_variant intron_variant	MODIFIER	HG01106.hp2 NA18984.hp1 HG01106.hp2 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0049 a0001c0001t0001g0053	2	97	0.0206	42	c.224 others(59): Show c.2241+346_2241+347insACCCGTGTGCTGGGGGCTCACTGGGGGC TGCATAAGTGTGAT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1115869	T T	TGGGAAGG others(35): Show TGGGAAGGGAGGAGAGGGAAGGGAGGAGAGGGAAGGGAGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0020 a0001c0018t0020	a0001c0018t0020g0076 a0001c0018t0020g0076	1	105	0.0095	42	c.-38 others(53): Show c.-3879_-3878insTCTCCTCCCTTCCCTCTCCTCCCTTCCCTCTCCT CCCTTCCC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding		3807		chr5	TogoVar
SLC14A2_chr18_45610476_45688688	45645619	A A	ATATATAC others(35): Show ATATATACATATATATATATATATACATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp2 HG02145.hp2 others(6): Show HG01243.hp1 HG01891.hp2 HG02145.hp2 HG02572.hp2 HG02717.hp2 HG03098.hp2 HG03486.hp1 HG03540.hp2 NA18906.hp2	a0001 a0003 a0015 others(1): Show a0001 a0003 a0015 a0019	a0001c0002 a0003c0005 a0015c0017 others(1): Show a0001c0002 a0003c0005 a0015c0017 a0019c0031	a0001c0002t0003 a0003c0005t0006 a0015c0017t0002 others(1): Show a0001c0002t0003 a0003c0005t0006 a0015c0017t0002 a0019c0031t0003	a0001c0002t0003g0005 a0001c0002t0003g0017 a0001c0002t0003g0248 others(4): Show a0001c0002t0003g0005 a0001c0002t0003g0017 a0001c0002t0003g0248 a0001c0002t0003g0250 a0003c0005t0006g0253 a0015c0017t0002g0254 a0019c0031t0003g0252	9	233	0.0386	42	c.135 others(61): Show c.1351+1463_1351+1464insTACATATATATATATATATACATATA TATATATATATTTATA	SLC14A2	ENSG00000132874.15	transcript	ENST00000255226.11	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr18	TogoVar

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