Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SERPINF2_chr17_1737871_1760265	1739442	TGGGAAGT others(36): Show TGGGAAGTGGCCTGATGCAGGGAGTGAGGAGCAGGTGTGAGGGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0145 a0001c0001t0016g0145	1	445	0.0023	-43	c.-34 others(54): Show c.-3470_-3428delGGGAAGTGGCCTGATGCAGGGAGTGAGGAGCAGG TGTGAGGGC	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		3428		chr17	TogoVar
SERPINF2_chr17_1737871_1760265	1739449	TGGCCTGA others(36): Show TGGCCTGATGCAGGGAGTGAGGAGCAGGTGTGAGGGCGGGAAGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG01928.hp2 others(21): Show HG00423.hp2 HG00544.hp1 HG01928.hp2 HG01943.hp2 HG01981.hp2 HG02135.hp2 HG02145.hp2 HG02976.hp2 HG03704.hp2 NA18612.hp2 NA18949.hp1 NA18960.hp1 NA18961.hp2 NA18969.hp1 NA18971.hp1 NA18980.hp1 NA18983.hp2 NA18985.hp2 NA18993.hp1 NA19000.hp2 NA19063.hp2 NA19083.hp2 NA19087.hp2 NA19088.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0004 a0003c0003t0010 a0003c0003t0001 a0003c0003t0004 a0003c0003t0010	a0003c0003t0001g0003 a0003c0003t0001g0007 a0003c0003t0001g0015 others(15): Show a0003c0003t0001g0003 a0003c0003t0001g0007 a0003c0003t0001g0015 a0003c0003t0001g0022 a0003c0003t0001g0046 a0003c0003t0001g0048 a0003c0003t0001g0049 a0003c0003t0001g0103 a0003c0003t0001g0104 a0003c0003t0001g0118 a0003c0003t0001g0125 a0003c0003t0004g0007 a0003c0003t0004g0015 a0003c0003t0004g0113 a0003c0003t0004g0115 a0003c0003t0004g0119 a0003c0003t0004g0121 a0003c0003t0010g0126	24	445	0.0539	-43	c.-34 others(54): Show c.-3463_-3421delGGCCTGATGCAGGGAGTGAGGAGCAGGTGTGAGG GCGGGAAGC	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		3421		chr17	TogoVar
SFRP1_chr8_41256962_41314473	41284353	GGCCCCTC others(36): Show GGCCCCTCCCACATTGCTGGAGGGCCCCCTCCCACATTGTCTGA	G G	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	384	0.0026	-43	c.623 others(62): Show c.623-18907_623-18865delTCAGACAATGTGGGAGGGGGCCCTCC AGCAATGTGGGAGGGGC	SFRP1	ENSG00000104332.12	transcript	ENST00000220772.8	protein_coding	2/2			chr8	TogoVar
SH2D1A_chrX_124341563_124378160	124350579	TATATAGT others(36): Show TATATAGTATAATATAGAATATATTATATATTGTATATAAGATA	T T	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA19007.hp1 HG02040.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0073 a0001c0001t0001g0074	2	318	0.0063	-43	c.137 others(60): Show c.137+3806_137+3848delGTATAATATAGAATATATTATATATTGT ATATAAGATAATATA	SH2D1A	ENSG00000183918.18	transcript	ENST00000371139.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chrX	TogoVar
SH3BGR_chr21_39446970_39520504	39457478	ATATATAT others(36): Show ATATATATAAATCTTATATATATGATTATTATATATTATATAGT	A A	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA19009.hp2 NA18950.hp1 NA19009.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0246 a0002c0002t0002g0247 a0002c0002t0002g0246 a0002c0002t0002g0247	2	302	0.0066	-43	c.46- others(58): Show c.46-4875_46-4833delTGATTATTATATATTATATAGTTATATATA AATCTTATATATA	SH3BGR	ENSG00000185437.16	transcript	ENST00000333634.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr21	TogoVar
SHC2_chr19_411589_466033	458192	CGGGGAAG others(36): Show CGGGGAAGTGGGTTCCGGGGAGGCAGACGCGGGTTCCGGCGGAG	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03540.hp1 HG02976.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0006 a0001c0007t0006 a0001c0001t0006 a0001c0007t0006	a0001c0001t0006g0043 a0001c0007t0006g0042 a0001c0001t0006g0043 a0001c0007t0006g0042	2	212	0.0094	-43	c.468 others(60): Show c.468+2294_468+2336delCTCCGCCGGAACCCGCGTCTGCCTCCCC GGAACCCACTTCCCC	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	1/12			chr19	TogoVar
SHOX2_chr3_158090905_158111420	158101256	TTTGAAAG others(36): Show TTTGAAAGCAAGTGTCATAGTCAATGTAAATCTTCAAAAATTTC	T T	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0213 a0001c0001t0024g0213	1	380	0.0026	-43	c.556 others(58): Show c.556-988_556-946delGAAATTTTTGAAGATTTACATTGACTATGA CACTTGCTTTCAA	SHOX2	ENSG00000168779.21	transcript	ENST00000483851.7	protein_coding	2/4			chr3	TogoVar
SIK1_chr21_43409483_43432131	43421539	GGACCCTC others(36): Show GGACCCTCCGTGCCTGCCAGCTTGATGTCCCTGCTCCCACCCCA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp2 HG02451.hp2 others(6): Show HG02109.hp1 HG02109.hp2 HG02451.hp2 HG02572.hp2 HG02717.hp2 HG02723.hp2 HG02965.hp1 HG02965.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0003t0007 a0001c0001t0001 a0001c0001t0004 a0001c0003t0007	a0001c0001t0001g0002 a0001c0001t0004g0007 a0001c0003t0007g0006 a0001c0001t0001g0002 a0001c0001t0004g0007 a0001c0003t0007g0006	9	32	0.2813	-43	c.499 others(56): Show c.499+56_499+98delTGGGGTGGGAGCAGGGACATCAAGCTGGCAGG CACGGAGGGTC	SIK1	ENSG00000142178.9	transcript	ENST00000270162.8	protein_coding	5/13			chr21	TogoVar
SIM1_chr6_100380009_100469921	100412599	GAAAGAAA others(36): Show GAAAGAAAGAAAGGAAAGAAAGAAGGAAAGAAAGAAAGAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0024 a0002c0002t0024	a0002c0002t0024g0101 a0002c0002t0024g0101	1	320	0.0031	-43	c.116 others(62): Show c.1167+8148_1167+8190delTCTTTTCTTTCTTTCTTTCCTTCTTT CTTTCCTTTCTTTCTTT	SIM1	ENSG00000112246.10	transcript	ENST00000369208.8	protein_coding	10/11			chr6	TogoVar
SIN3B_chr19_16824398_16885349	16849395	CACTTTAT others(36): Show CACTTTATTTACAAAATGAATGGGTGTGGCCGGGTACCAACAAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0092 a0001c0014t0002g0092	1	372	0.0027	-43	c.727 others(60): Show c.727-1993_727-1951delTGTGGCCGGGTACCAACAAAACTTTATT TACAAAATGAATGGG	SIN3B	ENSG00000127511.10	transcript	ENST00000248054.10	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIRT5_chr6_13569601_13620158	13609487	GGCCAGGG others(36): Show GGCCAGGGTCCCACTTCCCCAGAAACTATAATACCAAGTTTAGA	G G	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0298 a0001c0002t0006g0298	1	394	0.0025	-43	c.858 others(60): Show c.858-2302_858-2260delGCCAGGGTCCCACTTCCCCAGAAACTAT AATACCAAGTTTAGA	SIRT5	ENSG00000124523.17	transcript	ENST00000606117.2	protein_coding	9/9			chr6	TogoVar
SKI_chr1_2223319_2315213	2280807	AGATCTTC others(36): Show AGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGC	A A	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0079	a0001c0001t0079g0128 a0001c0001t0079g0128	1	330	0.0030	-43	c.970 others(62): Show c.970-21942_970-21900delAGGACGCCCGAGAAGACAGGCGGCGG CGGCGATCTTCAGAGAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281036	AGGACGCC others(36): Show AGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGC	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01169.hp2 NA18947.hp2 others(1): Show HG01074.hp2 HG01169.hp2 NA18947.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0031 others(1): Show a0001c0001t0006 a0001c0001t0007 a0001c0001t0031 a0001c0001t0057	a0001c0001t0006g0324 a0001c0001t0007g0281 a0001c0001t0031g0321 others(1): Show a0001c0001t0006g0324 a0001c0001t0007g0281 a0001c0001t0031g0321 a0001c0001t0057g0288	4	330	0.0121	-43	c.970 others(62): Show c.970-21913_970-21871delCGATCTTCAGAGAGCGGACGCCCGAG AAGACAGGCGGCGGCGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281065	CGATCTTC others(36): Show CGATCTTCAGAGAGCGGACGCCCGAGAAGACAGGCGGCGGCGGA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0224 a0001c0001t0003g0224	1	330	0.0030	-43	c.970 others(62): Show c.970-21899_970-21857delCGGACGCCCGAGAAGACAGGCGGCGG CGGAGATCTTCAGAGAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281256	TGCCCGAG others(36): Show TGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGAC	T T	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0308 a0001c0001t0009g0308	1	330	0.0030	-43	c.970 others(62): Show c.970-21681_970-21639delGACGCCCGAGAAGACAGGCGGTGGCG GAGATCTTCAGAGAGAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281343	TGCCCGAG others(36): Show TGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGAC	T T	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0144 a0001c0001t0014g0144	1	330	0.0030	-43	c.970 others(62): Show c.970-21592_970-21550delCGCCCGAGAAGACAGGCGGTGGCGGA GATCTTCAGAGAGAGGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281506	GAGAGAGG others(36): Show GAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAT	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG03942.hp1 NA19002.hp2 HG01261.hp1 HG03942.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0042 a0001c0001t0001 a0001c0001t0013 a0001c0001t0042	a0001c0001t0001g0146 a0001c0001t0013g0177 a0001c0001t0042g0319 a0001c0001t0001g0146 a0001c0001t0013g0177 a0001c0001t0042g0319	3	330	0.0091	-43	c.970 others(62): Show c.970-21441_970-21399delTGGAGATCTTCATAGAGAGGACGCCC GAGAGGACAGGCGGTGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281795	CGGAGATC others(36): Show CGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00642.hp2 HG01243.hp1 others(7): Show HG00544.hp1 HG00642.hp2 HG01243.hp1 HG02647.hp2 HG03540.hp1 NA18906.hp1 NA18950.hp1 NA18995.hp1 NA19066.hp2 NA19074.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0001c0001t0016 a0001c0001t0027 a0001c0001t0057 a0002c0002t0002 a0002c0002t0022 a0002c0002t0043	a0001c0001t0002g0154 a0001c0001t0003g0062 a0001c0001t0008g0210 others(7): Show a0001c0001t0002g0154 a0001c0001t0003g0062 a0001c0001t0008g0210 a0001c0001t0010g0208 a0001c0001t0016g0317 a0001c0001t0027g0245 a0001c0001t0057g0288 a0002c0002t0002g0184 a0002c0002t0022g0181 a0002c0002t0043g0182	10	330	0.0303	-43	c.970 others(62): Show c.970-21153_970-21111delGGACAGGCGGTGGTGGAGATCTTCAG AGAGAGGACGCCCGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281911	GGACAGGC others(36): Show GGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGAGAA	G G	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0220 a0001c0001t0004g0220	1	330	0.0030	-43	c.970 others(62): Show c.970-21029_970-20987delTGAGAAGACAGGCGGTGGCGGAGATC TTCAGAGAGAGGACGCC	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282165	CGAGAAGA others(36): Show CGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 NA18944.hp1 NA21309.hp1 HG00735.hp2 NA18944.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0013 a0001c0001t0004 a0001c0001t0013	a0001c0001t0004g0118 a0001c0001t0004g0260 a0001c0001t0013g0176 a0001c0001t0004g0118 a0001c0001t0004g0260 a0001c0001t0013g0176	3	330	0.0091	-43	c.970 others(62): Show c.970-20770_970-20728delTGAGAAGACAGGCGGTGGCGGAGATC TTCAGAGAGAGGACGCC	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282251	CGAGAAGA others(36): Show CGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCT	C C	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0144 a0001c0001t0014g0144	1	330	0.0030	-43	c.970 others(62): Show c.970-20684_970-20642delTGAGAAGACAGGCGGTGGCGGAGATC TTCAGAGAGAGGACGCC	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282441	CGGAGATC others(36): Show CGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00673.hp2 HG01074.hp2 others(2): Show HG00544.hp1 HG00673.hp2 HG01074.hp2 NA18944.hp1 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0031 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0031 a0001c0001t0076	a0001c0001t0002g0154 a0001c0001t0004g0115 a0001c0001t0004g0118 others(2): Show a0001c0001t0002g0154 a0001c0001t0004g0115 a0001c0001t0004g0118 a0001c0001t0031g0321 a0001c0001t0076g0113	5	330	0.0152	-43	c.970 others(62): Show c.970-20499_970-20457delGGTGGTGGAGATCTTCAGAGAGAGGA CGCCTGAGAAGACAGGC	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLA2_chr20_36607318_36651196	36609196	CACACACG others(36): Show CACACACGCACACACGCACACACGCACACACACACACACACACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0334 a0002c0002t0004g0334	1	360	0.0028	-43	c.46 others(54): Show c.4627_*4669delTGTGTGTGTGTGTGTGTGTGCGTGTGTGCGTGTG TGCGTGTGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3121		chr20	TogoVar
SLBP_chr4_1687731_1717319	1707225	CAAAAAAA others(36): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(46): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00558.hp1 HG00621.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG01099.hp1 HG01168.hp1 HG01515.hp1 HG01978.hp1 HG02071.hp2 HG02109.hp2 HG02559.hp1 HG02630.hp1 HG02698.hp1 HG02886.hp1 HG02970.hp1 HG03209.hp1 HG03239.hp2 HG03490.hp1 HG03516.hp2 HG03540.hp1 HG03669.hp2 HG03704.hp1 HG04184.hp2 HG04204.hp1 NA18945.hp2 NA18947.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18964.hp2 NA18971.hp1 NA18977.hp2 NA18979.hp2 NA18985.hp1 NA18991.hp1 NA19003.hp1 NA19005.hp2 NA19055.hp2 NA19066.hp1 NA19079.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0017	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0036 others(33): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0058 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0001g0243 a0001c0001t0001g0251 a0001c0001t0003g0007 a0001c0001t0005g0216 a0001c0001t0005g0226 a0001c0001t0005g0227 a0001c0001t0005g0230 a0001c0001t0017g0271	49	376	0.1303	-43	c.177 others(60): Show c.177-3568_177-3526delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTT	SLBP	ENSG00000163950.13	transcript	ENST00000489418.6	protein_coding	2/7			chr4	TogoVar
SLC10A6_chr4_86818468_86854384	86842831	TTTCTTTC others(36): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	350	0.0029	-43	c.377 others(60): Show c.377+5865_377+5907delGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAA	SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5			chr4	TogoVar
SLC10A6_chr4_86818468_86854384	86842834	CTTTCTTT others(36): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	350	0.0029	-43	c.377 others(60): Show c.377+5862_377+5904delAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAA	SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5			chr4	TogoVar
SLC12A7_chr5_1045384_1117063	1069306	ACAGCCCT others(36): Show ACAGCCCTCTTGAGCAGGGTTCCCACCCCTAGGCTGACCGGCCC	A A	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0008 a0008	a0008c0036 a0008c0036	a0008c0036t0001 a0008c0036t0001	a0008c0036t0001g0097 a0008c0036t0001g0097	1	118	0.0085	-43	c.224 others(62): Show c.2242-3871_2242-3829delGGGCCGGTCAGCCTAGGGGTGGGAAC CCTGCTCAAGAGGGCTG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072178	GCCCCCAG others(36): Show GCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGC	G G	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0035 a0001c0001t0019g0035	1	118	0.0085	-43	c.224 others(62): Show c.2241+1412_2241+1454delGCTGCATAAGTGTGATGCCCGTGTGC TGGGGGCTCACTGGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072985	GCCCCCAG others(36): Show GCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGC	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0071 a0001c0003t0003g0071	1	118	0.0085	-43	c.224 others(60): Show c.2241+605_2241+647delGCTGCATAAGTGTGATGCCCGTGTGCTG GGGGCTCACTGGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1073027	GCCCCCAG others(36): Show GCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGC	G G	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0014 a0001c0003t0003g0014	1	118	0.0085	-43	c.224 others(60): Show c.2241+563_2241+605delGCTGCATAAGTGTGATGCCCGTGTGCTG GGGGCTCACTGGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1073198	CGGGCATC others(36): Show CGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACG	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0024 a0002c0024	a0002c0024t0002 a0002c0024t0002	a0002c0024t0002g0060 a0002c0024t0002g0060	1	118	0.0085	-43	c.224 others(60): Show c.2241+392_2241+434delCGTGTGCTGGGGGCTCACTGGGGGCTGC ATAAGTGTGATGCCC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1073217	GCCCCCAG others(36): Show GCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGC	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02451.hp1 HG01884.hp1 HG02451.hp1	a0001 a0001	a0001c0003 a0001c0009 a0001c0003 a0001c0009	a0001c0003t0003 a0001c0009t0006 a0001c0003t0003 a0001c0009t0006	a0001c0003t0003g0005 a0001c0009t0006g0064 a0001c0003t0003g0005 a0001c0009t0006g0064	2	118	0.0170	-43	c.224 others(60): Show c.2241+373_2241+415delGCTGCATAAGTGTGATGCCCGTGTGCTG GGGGCTCACTGGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1096687	GGGGGGAA others(36): Show GGGGGGAAGGGAGGGAAGGAAGGAGGGAGGAAGGAAAGGAGGGA	G G	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0011 a0001c0006t0011	a0001c0006t0011g0079 a0001c0006t0011g0079	1	118	0.0085	-43	c.125 others(60): Show c.125-2482_125-2440delTCCCTCCTTTCCTTCCTCCCTCCTTCCT TCCCTCCCTTCCCCC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC15A3_chr11_60932084_60957176	60953275	AATGAATG others(36): Show AATGAATGGAAAGAGTGTCCCAAGGCAAAATTTGTAAGAATAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	382	0.0026	-43	c.-17 others(54): Show c.-1767_-1725delATTATTCTTACAAATTTTGCCTTGGGACACTCTT TCCATTCAT	SLC15A3	ENSG00000110446.12	transcript	ENST00000227880.8	protein_coding		1100		chr11	TogoVar
SLC1A3_chr5_36601606_36693334	36692489	GATGTGGG others(36): Show GATGTGGGGATTGCATGAAACCTACCGTCTCCAAATCAACTTTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02145.hp2 HG02886.hp2 others(7): Show HG01891.hp1 HG02145.hp2 HG02886.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp2 NA18906.hp1 NA19030.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0026 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0026 a0001c0001t0027	a0001c0001t0001g0128 a0001c0001t0006g0061 a0001c0001t0006g0063 others(7): Show a0001c0001t0001g0128 a0001c0001t0006g0061 a0001c0001t0006g0063 a0001c0001t0006g0109 a0001c0001t0006g0111 a0001c0001t0006g0131 a0001c0001t0006g0257 a0001c0001t0006g0355 a0001c0001t0026g0161 a0001c0001t0027g0129	10	380	0.0263	-43	c.62 others(54): Show c.6221_*6263delATGTGGGGATTGCATGAAACCTACCGTCTCCAAA TCAACTTTC	SLC1A3	ENSG00000079215.15	transcript	ENST00000265113.9	protein_coding		4156		chr5	TogoVar
SLC22A18_chr11_2897278_2930246	2921552	AAGCCTGT others(36): Show AAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTGCGGCCG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00408.hp2 others(219): Show HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01257.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01943.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG02818.hp2 HG02895.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03654.hp1 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp2 NA18999.hp1 NA19000.hp2 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0007 a0008 a0011 a0013 a0015 a0017	a0001c0001 a0001c0008 a0001c0012 others(15): Show a0001c0001 a0001c0008 a0001c0012 a0001c0019 a0002c0002 a0002c0003 a0002c0011 a0002c0014 a0002c0021 a0002c0037 a0003c0004 a0004c0031 a0007c0009 a0008c0013 a0011c0027 a0013c0029 a0015c0025 a0017c0026	a0001c0001t0001 a0001c0008t0001 a0001c0012t0001 others(15): Show a0001c0001t0001 a0001c0008t0001 a0001c0012t0001 a0001c0019t0001 a0002c0002t0001 a0002c0003t0001 a0002c0011t0001 a0002c0014t0001 a0002c0021t0001 a0002c0037t0001 a0003c0004t0001 a0004c0031t0001 a0007c0009t0001 a0008c0013t0001 a0011c0027t0001 a0013c0029t0001 a0015c0025t0001 a0017c0026t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0010 others(150): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0172 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0008t0001g0037 a0001c0008t0001g0177 a0001c0008t0001g0178 a0001c0012t0001g0001 a0001c0012t0001g0103 a0001c0012t0001g0234 a0001c0019t0001g0040 a0002c0002t0001g0011 a0002c0002t0001g0015 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0070 a0002c0002t0001g0110 a0002c0002t0001g0112 a0002c0002t0001g0117 a0002c0002t0001g0121 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0135 a0002c0002t0001g0142 a0002c0003t0001g0034 a0002c0003t0001g0052 a0002c0003t0001g0146 a0002c0003t0001g0147 a0002c0003t0001g0153 a0002c0003t0001g0155 a0002c0003t0001g0157 a0002c0003t0001g0158 a0002c0003t0001g0159 a0002c0003t0001g0160 a0002c0003t0001g0161 a0002c0003t0001g0168 a0002c0003t0001g0169 a0002c0003t0001g0272 a0002c0003t0001g0282 a0002c0003t0001g0285 a0002c0003t0001g0287 a0002c0011t0001g0015 a0002c0011t0001g0111 a0002c0011t0001g0113 a0002c0014t0001g0016 a0002c0021t0001g0107 a0002c0037t0001g0164 a0003c0004t0001g0077 a0003c0004t0001g0078 a0003c0004t0001g0079 a0004c0031t0001g0213 a0007c0009t0001g0001 a0007c0009t0001g0189 a0007c0009t0001g0261 a0008c0013t0001g0022 a0011c0027t0001g0102 a0013c0029t0001g0267 a0015c0025t0001g0087 a0017c0026t0001g0181	222	405	0.5482	-43	c.865 others(58): Show c.865-307_865-265delGAGCAGCCTGCGGCCGAGCCTGTCCCACCG AGCCCATCCCCGG	SLC22A18	ENSG00000110628.16	transcript	ENST00000649076.2	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC25A24_chr1_108129043_108205343	108186733	TCAAAGCT others(36): Show TCAAAGCTTACAAATTCTACTGTTCTCATGGTCATGCTCTTCTG	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	374	0.0027	-43	c.184 others(58): Show c.184-822_184-780delCAGAAGAGCATGACCATGAGAACAGTAGAA TTTGTAAGCTTTG	SLC25A24	ENSG00000085491.17	transcript	ENST00000565488.6	protein_coding	1/9			chr1	TogoVar
SLC25A3_chr12_98588686_98611367	98601634	ATATAATT others(36): Show ATATAATTACTGTAGTACTCTTGCTTAAGGCAAGAGTTTCAGAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0104 a0001c0001t0104	a0001c0001t0104g0001 a0001c0001t0104g0001	1	420	0.0024	-43	c.10 others(52): Show c.108_*150delATAATTACTGTAGTACTCTTGCTTAAGGCAAGAGTT TCAGATT	SLC25A3	ENSG00000075415.15	transcript	ENST00000228318.8	protein_coding	8/8	108	INFO_REALIGN_3_PRIME	chr12	TogoVar
SLC30A2_chr1_26032252_26051118	26033090	CCAGGCGT others(36): Show CCAGGCGTCTACACTGTGCCTGAAGGGAGGCTTTATTCATGGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0003 a0001c0002t0003g0003	1	360	0.0028	-43	c.60 others(54): Show c.6027_*6069delAGCCATGAATAAAGCCTCCCTTCAGGCACAGTGT AGACGCCTG	SLC30A2	ENSG00000158014.15	transcript	ENST00000374276.4	protein_coding		4161		chr1	TogoVar
SLC35D2_chr9_96315710_96388711	96386550	CATTACAA others(36): Show CATTACAAAAAAATTCTTAGACCATTACAAATATAAATTCTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01257.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0250 a0001c0001t0001g0247 a0001c0001t0001g0250	2	284	0.0070	-43	c.-29 others(54): Show c.-2959_-2917delAAGAGAATTTATATTTGTAATGGTCTAAGAATTT TTTTGTAAT	SLC35D2	ENSG00000130958.13	transcript	ENST00000253270.13	protein_coding		2840		chr9	TogoVar
SLC35E2B_chr1_1656478_1697795	1666766	CCCCAGCA others(36): Show CCCCAGCACTGTGGGAGGCCGGGCACGGGGGCTCAGCCTGTCAT	C C	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0217 a0002c0003t0002g0217	1	348	0.0029	-43	c.981 others(58): Show c.981-790_981-748delATGACAGGCTGAGCCCCCGTGCCCGGCCTC CCACAGTGCTGGG	SLC35E2B	ENSG00000189339.12	transcript	ENST00000617444.5	protein_coding	9/9			chr1	TogoVar
SLC37A1_chr21_42508852_42586426	42531175	ACCGCCTT others(36): Show ACCGCCTTCCCCGCACACTCGTCGCGCTGTGACTCCCGGCCCCG	A A	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	356	0.0028	-43	c.139 others(60): Show c.139-3487_139-3445delCGGCCCCGCCGCCTTCCCCGCACACTCG TCGCGCTGTGACTCC	SLC37A1	ENSG00000160190.14	transcript	ENST00000352133.3	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
SLC5A10_chr17_18947165_19027565	19003936	CCAGCGCC others(36): Show CCAGCGCCAGCCGCTGCTCCTCGCTGTAGAAGAACTCAGGCTTG	C C	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0002 a0002	a0002c0021 a0002c0021	a0002c0021t0001 a0002c0021t0001	a0002c0021t0001g0223 a0002c0021t0001g0223	1	354	0.0028	-43	c.983 others(60): Show c.983-9473_983-9431delCAGCGCCAGCCGCTGCTCCTCGCTGTAG AAGAACTCAGGCTTG	SLC5A10	ENSG00000154025.16	transcript	ENST00000395645.4	protein_coding	9/14			chr17	TogoVar
SLC6A11_chr3_10811228_10945714	10890099	CTGTGGCT others(36): Show CTGTGGCTAGTGGCCACCATATCAGAGAGCACATACATAGAACA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02630.hp1 HG03540.hp2 HG02615.hp2 HG02630.hp1 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0024 a0001c0002 a0001c0005 a0001c0024	a0001c0002t0002 a0001c0005t0002 a0001c0024t0005 a0001c0002t0002 a0001c0005t0002 a0001c0024t0005	a0001c0002t0002g0017 a0001c0005t0002g0203 a0001c0024t0005g0045 a0001c0002t0002g0017 a0001c0005t0002g0203 a0001c0024t0005g0045	3	362	0.0083	-43	c.891 others(62): Show c.891+15008_891+15050delGGCTAGTGGCCACCATATCAGAGAGC ACATACATAGAACATGT	SLC6A11	ENSG00000132164.10	transcript	ENST00000254488.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLC6A19_chr5_1196595_1230111	1219256	AGGCGTGT others(36): Show AGGCGTGTGAACAGCTCTGTCCCCGGCCGTGTGTGCAGCCCCCG	A A	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0347 a0001c0004t0002g0347	1	458	0.0022	-43	c.137 others(60): Show c.1378+180_1379-176delTGTGCAGCCCCCGGGCGTGTGAACAGCT CTGTCCCCGGCCGTG	SLC6A19	ENSG00000174358.16	transcript	ENST00000304460.11	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC6A4_chr17_30189319_30240697	30237266	AGGGCTGC others(36): Show AGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGAGATGCTGGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(130): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp2 HG00733.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01978.hp1 HG01993.hp2 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02818.hp2 HG02970.hp1 HG02976.hp2 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18951.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp2 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18979.hp1 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19011.hp2 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19075.hp1 NA19075.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0001c0010 others(1): Show a0001c0001 a0001c0009 a0001c0010 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0032 a0001c0001t0035 a0001c0001t0036 a0001c0001t0043 a0001c0009t0001 a0001c0010t0004 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(110): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0012 a0001c0001t0002g0029 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0114 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0166 a0001c0001t0002g0221 a0001c0001t0002g0230 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0242 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0251 a0001c0001t0003g0020 a0001c0001t0003g0073 a0001c0001t0003g0170 a0001c0001t0003g0250 a0001c0001t0003g0256 a0001c0001t0003g0258 a0001c0001t0004g0068 a0001c0001t0004g0257 a0001c0001t0004g0260 a0001c0001t0005g0234 a0001c0001t0006g0139 a0001c0001t0006g0143 a0001c0001t0006g0245 a0001c0001t0007g0140 a0001c0001t0007g0144 a0001c0001t0008g0146 a0001c0001t0009g0002 a0001c0001t0009g0076 a0001c0001t0009g0077 a0001c0001t0010g0070 a0001c0001t0010g0180 a0001c0001t0013g0229 a0001c0001t0017g0079 a0001c0001t0017g0080 a0001c0001t0019g0193 a0001c0001t0020g0005 a0001c0001t0021g0247 a0001c0001t0024g0222 a0001c0001t0025g0183 a0001c0001t0026g0176 a0001c0001t0032g0259 a0001c0001t0035g0196 a0001c0001t0036g0078 a0001c0001t0043g0082 a0001c0009t0001g0226 a0001c0010t0004g0255 a0002c0002t0001g0017	133	286	0.4650	-43	c.-19 others(54): Show c.-1917_-1875delCCCCAGCATCTCCCCTGCACCCCCAGCATCCCCC CTGCAGCCC	SLC6A4	ENSG00000108576.10	transcript	ENST00000650711.1	protein_coding		1570		chr17	TogoVar
SLC7A6_chr16_68259526_68306819	68291946	ATTTTGTG others(36): Show ATTTTGTGTGCTGGTAGCTCATGTTTATGTGCTGGTAGCTCATG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0128	1	282	0.0036	-43	c.102 others(60): Show c.1022+311_1022+353delATGTGCTGGTAGCTCATGTTTTGTGTGC TGGTAGCTCATGTTT	SLC7A6	ENSG00000103064.15	transcript	ENST00000219343.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC8A1_chr2_40092270_40457090	40255000	CTATTTCT others(36): Show CTATTTCTTCATTTCTTCCTTGACTGTCTTCATTCTTTGCTTTT	C C	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01975.hp2 NA18957.hp1 others(1): Show HG01934.hp2 HG01975.hp2 NA18957.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0045 a0001c0001t0161 others(1): Show a0001c0001t0041 a0001c0001t0045 a0001c0001t0161 a0001c0001t0177	a0001c0001t0041g0233 a0001c0001t0045g0013 a0001c0001t0161g0178 others(1): Show a0001c0001t0041g0233 a0001c0001t0045g0013 a0001c0001t0161g0178 a0001c0001t0177g0172	4	236	0.0170	-43	c.180 others(64): Show c.1809-76550_1809-76508delAAAAGCAAAGAATGAAGACAGTCA AGGAAGAAATGAAGAAATA	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLC9A3_chr5_465456_529449	508349	GCAGGCCT others(36): Show GCAGGCCTCAGCGCGCCCGGGGATGGAGATGCCGCAGGGAAACT	G G	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02257.hp1 HG02896.hp1 others(2): Show HG02074.hp2 HG02257.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0031 a0001c0001 a0001c0008 a0001c0031	a0001c0001t0001 a0001c0008t0001 a0001c0031t0004 a0001c0001t0001 a0001c0008t0001 a0001c0031t0004	a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 others(2): Show a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0008t0001g0158 a0001c0031t0004g0159	5	218	0.0229	-43	c.211 others(62): Show c.211+15720_211+15762delAGTTTCCCTGCGGCATCTCCATCCCC GGGCGCGCTGAGGCCTG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLC9A9_chr3_143260222_143853468	143317646	ATTTCCTT others(36): Show ATTTCCTTATGTATTTCTCAGGTTTGAAATGTTCTATGTTCCAT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01069.hp1 HG01109.hp1 others(53): Show HG00738.hp1 HG01069.hp1 HG01109.hp1 HG01109.hp2 HG01175.hp2 HG01243.hp2 HG01255.hp2 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01934.hp1 HG02083.hp1 HG02257.hp2 HG02258.hp1 HG02451.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03579.hp2 HG03704.hp1 HG03710.hp2 HG04115.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18955.hp2 NA19011.hp2 NA19030.hp1 NA19084.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0001c0010 a0001c0014 a0001c0016 a0002c0007 a0002c0011 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0024 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0002t0008 a0001c0002t0009 a0001c0002t0014 a0001c0002t0017 a0001c0002t0019 a0001c0002t0023 a0001c0003t0003 a0001c0003t0004 a0001c0003t0008 a0001c0005t0012 a0001c0008t0012 a0001c0010t0020 a0001c0014t0001 a0001c0016t0013 a0002c0007t0002 a0002c0011t0002 a0003c0006t0005	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0009 others(53): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0082 a0001c0001t0002g0035 a0001c0001t0002g0050 a0001c0001t0002g0054 a0001c0001t0002g0057 a0001c0001t0002g0091 a0001c0001t0003g0030 a0001c0001t0003g0045 a0001c0001t0004g0007 a0001c0001t0004g0033 a0001c0001t0004g0040 a0001c0001t0005g0090 a0001c0001t0006g0106 a0001c0001t0007g0058 a0001c0001t0010g0020 a0001c0001t0011g0029 a0001c0001t0013g0032 a0001c0001t0015g0105 a0001c0001t0016g0081 a0001c0001t0018g0096 a0001c0001t0024g0103 a0001c0002t0001g0027 a0001c0002t0001g0064 a0001c0002t0001g0071 a0001c0002t0001g0075 a0001c0002t0001g0089 a0001c0002t0003g0005 a0001c0002t0003g0012 a0001c0002t0003g0038 a0001c0002t0003g0052 a0001c0002t0003g0067 a0001c0002t0004g0015 a0001c0002t0004g0086 a0001c0002t0007g0094 a0001c0002t0008g0039 a0001c0002t0008g0080 a0001c0002t0009g0070 a0001c0002t0014g0077 a0001c0002t0017g0010 a0001c0002t0019g0002 a0001c0002t0023g0107 a0001c0003t0003g0021 a0001c0003t0004g0095 a0001c0003t0008g0074 a0001c0005t0012g0097 a0001c0008t0012g0098 a0001c0010t0020g0034 a0001c0014t0001g0073 a0001c0016t0013g0084 a0002c0007t0002g0018 a0002c0011t0002g0056 a0003c0006t0005g0008	56	108	0.5185	-43	c.160 others(64): Show c.1604+45795_1604+45837delATGGAACATAGAACATTTCAAACC TGAGAAATACATAAGGAAA	SLC9A9	ENSG00000181804.15	transcript	ENST00000316549.11	protein_coding	14/15			chr3	TogoVar

Search by Variant

Search

Search Results (Total: 1100 hits)