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.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
KBTBD11_chr8_1968677_2011936	1993512	TCCATCCA others(17): Show TCCATCCACCCATCCATCCACCCAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG03098.hp1 NA20300.hp1 others(1): Show HG00280.hp2 HG03098.hp1 NA20300.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0001 a0001c0001t0003 a0001c0001t0008	a0001c0001t0001g0215 a0001c0001t0003g0097 a0001c0001t0008g0304 others(1): Show a0001c0001t0001g0215 a0001c0001t0003g0097 a0001c0001t0008g0304 a0001c0001t0008g0305	4	389	0.0103	-24	c.-90 others(43): Show c.-908-6769_-908-6746delTCCACCCATCCATCCACCCACCCA	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
KBTBD11_chr8_1968677_2011936	1993544	CCCACCCA others(17): Show CCCACCCACCCACCCATCCATCCAT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG06807.hp2 HG03195.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0055 a0001c0001t0019 a0001c0001t0055	a0001c0001t0019g0341 a0001c0001t0055g0284 a0001c0001t0019g0341 a0001c0001t0055g0284	2	389	0.0051	-24	c.-90 others(43): Show c.-908-6737_-908-6714delCCCACCCACCCATCCATCCATCCA	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
KBTBD12_chr3_127910232_127992666	127914099	TCTGTAAA others(17): Show TCTGTAAAATGGACCAATCAGCACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0279 a0001c0005t0003g0279	1	402	0.0025	-24	c.-15 others(35): Show c.-1599_-1576delCTGTAAAATGGACCAATCAGCACA	KBTBD12	ENSG00000187715.13	transcript	ENST00000405109.5	protein_coding		1132		chr3	TogoVar
KBTBD12_chr3_127910232_127992666	127914125	TGTAAAAT others(17): Show TGTAAAATGGACCAATCAGCACTTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00438.hp2 others(60): Show HG00280.hp1 HG00408.hp1 HG00438.hp2 HG00609.hp2 HG00673.hp2 HG00733.hp1 HG01071.hp1 HG01109.hp2 HG01358.hp1 HG01884.hp1 HG01884.hp2 HG02015.hp2 HG02027.hp2 HG02074.hp1 HG02129.hp1 HG02135.hp2 HG02486.hp1 HG02615.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG03098.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03579.hp1 HG03669.hp1 HG04115.hp2 NA18612.hp2 NA18906.hp2 NA18943.hp2 NA18945.hp2 NA18950.hp2 NA18952.hp2 NA18954.hp2 NA18957.hp2 NA18977.hp2 NA18979.hp2 NA18983.hp2 NA18985.hp2 NA18986.hp1 NA18987.hp2 NA18988.hp1 NA18994.hp1 NA18995.hp1 NA19000.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19010.hp2 NA19054.hp2 NA19056.hp1 NA19057.hp1 NA19060.hp2 NA19077.hp2 NA19078.hp1 NA19088.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0014 a0001c0001t0015 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0030 a0001c0005t0003	a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0290 others(50): Show a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0290 a0001c0001t0001g0298 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0004g0016 a0001c0001t0004g0042 a0001c0001t0004g0043 a0001c0001t0004g0044 a0001c0001t0004g0313 a0001c0001t0004g0314 a0001c0001t0004g0315 a0001c0001t0004g0316 a0001c0001t0004g0320 a0001c0001t0004g0323 a0001c0001t0004g0324 a0001c0001t0004g0325 a0001c0001t0004g0328 a0001c0001t0005g0040 a0001c0001t0005g0289 a0001c0001t0005g0293 a0001c0001t0005g0294 a0001c0001t0005g0297 a0001c0001t0005g0300 a0001c0001t0005g0303 a0001c0001t0005g0304 a0001c0001t0005g0305 a0001c0001t0005g0307 a0001c0001t0005g0308 a0001c0001t0005g0309 a0001c0001t0005g0310 a0001c0001t0005g0312 a0001c0001t0007g0301 a0001c0001t0014g0292 a0001c0001t0014g0296 a0001c0001t0014g0299 a0001c0001t0014g0302 a0001c0001t0015g0317 a0001c0001t0015g0319 a0001c0001t0015g0326 a0001c0001t0024g0322 a0001c0001t0025g0318 a0001c0001t0026g0321 a0001c0001t0027g0327 a0001c0001t0030g0295 a0001c0005t0003g0015 a0001c0005t0003g0291 a0001c0005t0003g0306 a0001c0005t0003g0311	63	402	0.1567	-24	c.-15 others(35): Show c.-1573_-1550delGTAAAATGGACCAATCAGCACTTG	KBTBD12	ENSG00000187715.13	transcript	ENST00000405109.5	protein_coding		1106		chr3	TogoVar
KCMF1_chr2_84966161_85064472	84998914	TTACCTAT others(17): Show TTACCTATCTATCTATCTATCTATC	T T	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0270 a0001c0001t0021g0270	1	274	0.0037	-24	c.16+ others(41): Show c.16+27450_16+27473delCCTATCTATCTATCTATCTATCTA	KCMF1	ENSG00000176407.18	transcript	ENST00000409785.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
KCNA7_chr19_49062397_49077699	49066594	CTGGGTCT others(17): Show CTGGGTCTCTGTCCCCTTCTGTCTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0010 a0002c0002t0008g0010	1	396	0.0025	-24	c.34 others(35): Show c.3445_*3468delCAGACAGAAGGGGACAGAGACCCA	KCNA7	ENSG00000104848.2	transcript	ENST00000221444.2	protein_coding		802		chr19	TogoVar
KCNAB1_chr3_156115578_156543605	156333319	AACACACA others(17): Show AACACACACACACACACACACACAT	A A	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0109 a0001c0002t0002g0109	1	124	0.0081	-24	c.276 others(43): Show c.276-88278_276-88255delACACATACACACACACACACACAC	KCNAB1	ENSG00000169282.19	transcript	ENST00000490337.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNB2_chr8_72532225_72943349	72561711	ATATATAT others(17): Show ATATATATATATATATATCTATATC	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02886.hp2 HG02896.hp2 others(2): Show HG02451.hp2 HG02886.hp2 HG02896.hp2 HG03195.hp2 HG03486.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0002 a0004c0008t0002 a0001c0001t0002 a0004c0008t0002	a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0068 others(2): Show a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0070 a0004c0008t0002g0069	5	164	0.0305	-24	c.-93 others(41): Show c.-93-5919_-93-5896delATATATCTATATCTATATATATAT	KCNB2	ENSG00000182674.6	transcript	ENST00000523207.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
KCNB2_chr8_72532225_72943349	72561754	TATATATG others(17): Show TATATATGGATATATATATATATGG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG01243.hp1 others(9): Show HG00099.hp2 HG00140.hp1 HG01243.hp1 HG02451.hp1 HG02486.hp2 HG02572.hp1 HG02647.hp1 HG02896.hp1 HG03017.hp2 HG03453.hp1 HG06807.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0004 a0001c0002t0004 a0001c0002t0006 others(1): Show a0001c0001t0004 a0001c0002t0004 a0001c0002t0006 a0001c0005t0004	a0001c0001t0004g0001 a0001c0001t0004g0037 a0001c0001t0004g0038 others(9): Show a0001c0001t0004g0001 a0001c0001t0004g0037 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0045 a0001c0001t0004g0046 a0001c0001t0004g0047 a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0002t0004g0044 a0001c0002t0006g0048 a0001c0005t0004g0052	12	164	0.0732	-24	c.-93 others(41): Show c.-93-5881_-93-5858delGGATATATATATATATGGATATAT	KCNB2	ENSG00000182674.6	transcript	ENST00000523207.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
KCNB2_chr8_72532225_72943349	72850197	GTGTGTGT others(17): Show GTGTGTGTGTGTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00621.hp2 HG00673.hp2 others(42): Show HG00323.hp2 HG00621.hp2 HG00673.hp2 HG01074.hp2 HG01081.hp2 HG01109.hp1 HG01261.hp2 HG01884.hp2 HG01928.hp2 HG01978.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02451.hp1 HG02486.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG02970.hp1 HG03017.hp2 HG03195.hp2 HG03209.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 NA18612.hp1 NA18906.hp2 NA18969.hp1 NA18980.hp2 NA18991.hp2 NA19030.hp2 NA19240.hp2 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0011 a0001c0012 a0002c0006 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0002t0002 a0001c0002t0003 a0001c0003t0001 a0001c0011t0001 a0001c0012t0007 a0002c0006t0002 a0004c0008t0002	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0020 others(42): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0071 a0001c0001t0002g0075 a0001c0001t0002g0080 a0001c0001t0002g0084 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0003g0134 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0004g0037 a0001c0001t0004g0043 a0001c0001t0004g0045 a0001c0001t0004g0051 a0001c0001t0005g0125 a0001c0001t0005g0128 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0088 a0001c0002t0003g0135 a0001c0002t0003g0136 a0001c0002t0003g0153 a0001c0003t0001g0006 a0001c0003t0001g0013 a0001c0011t0001g0014 a0001c0012t0007g0033 a0002c0006t0002g0072 a0002c0006t0002g0073 a0004c0008t0002g0069	45	164	0.2744	-24	c.580 others(43): Show c.580-85720_580-85697delGTGTGTATGTGTGTGTGTGTGTGT	KCNB2	ENSG00000182674.6	transcript	ENST00000523207.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
KCNC2_chr12_75035078_75214839	75191515	ATTATTAT others(17): Show ATTATTATTATTATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02818.hp1 HG02896.hp2 others(2): Show HG01069.hp2 HG02818.hp1 HG02896.hp2 HG03130.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0010 a0001c0001t0021 a0001c0001t0006 a0001c0001t0010 a0001c0001t0021	a0001c0001t0006g0300 a0001c0001t0010g0301 a0001c0001t0010g0302 others(2): Show a0001c0001t0006g0300 a0001c0001t0010g0301 a0001c0001t0010g0302 a0001c0001t0010g0306 a0001c0001t0021g0309	5	316	0.0158	-24	c.687 others(43): Show c.687+15758_687+15781delAAAAAAAAAAAATAATAATAATAA	KCNC2	ENSG00000166006.14	transcript	ENST00000549446.6	protein_coding	2/4			chr12	TogoVar
KCNC4_chr1_110205314_110239044	110229402	CAGGAAGC others(17): Show CAGGAAGCCTCTGCCCAGATTCAGT	C C	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	430	0.0023	-24	c.181 others(43): Show c.1819+3225_1819+3248delAGGAAGCCTCTGCCCAGATTCAGT	KCNC4	ENSG00000116396.15	transcript	ENST00000438661.3	protein_coding	3/3			chr1	TogoVar
KCNF1_chr2_10906934_10919225	10918094	ATCATCTG others(17): Show ATCATCTGATCTCTCTAGGGTGACG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02148.hp1 HG02280.hp2 others(4): Show HG01884.hp1 HG02148.hp1 HG02280.hp2 HG02486.hp1 HG02965.hp1 HG03098.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0002t0002g0000 a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0002t0002g0000	7	436	0.0161	-24	c.41 others(35): Show c.4184_*4207delTCATCTGATCTCTCTAGGGTGACG	KCNF1	ENSG00000162975.5	transcript	ENST00000295082.3	protein_coding		3870		chr2	TogoVar
KCNF1_chr2_10906934_10919225	10918303	GGGTTCCA others(17): Show GGGTTCCATCATCTGCTCTCTCTAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0000 a0001c0001t0006g0000	1	436	0.0023	-24	c.43 others(35): Show c.4393_*4416delGGTTCCATCATCTGCTCTCTCTAA	KCNF1	ENSG00000162975.5	transcript	ENST00000295082.3	protein_coding		4079		chr2	TogoVar
KCNG2_chr18_79792938_79905100	79832351	CCTCACCT others(17): Show CCTCACCTGTCCATCCTCACCTGCA	C C	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0301 a0002c0004t0001g0301	1	312	0.0032	-24	c.-11 others(45): Show c.-114-24019_-114-23996delTCCATCCTCACCTGCACTCACCTG	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNH1_chr1_210673314_211139148	210673762	ATTATTTA others(17): Show ATTATTTATTTATTTATTTATTTAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0045 a0001c0001t0021g0045	1	164	0.0061	-24	c.94 others(35): Show c.9495_*9518delATAAATAAATAAATAAATAAATAA	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding		4551		chr1	TogoVar
KCNH1_chr1_210673314_211139148	210869484	CGTGTGTG others(17): Show CGTGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0084 a0001c0002t0001g0084	1	164	0.0061	-24	c.146 others(45): Show c.1462+50132_1462+50155delACACACACACACACACACACACAC	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	7/10			chr1	TogoVar
KCNH2_chr7_150939961_150983321	150978907	CACACACA others(17): Show CACACACACACACACACACACACAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp1 NA18954.hp1 NA19030.hp1 others(1): Show HG01943.hp1 NA18954.hp1 NA19030.hp1 NA19063.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0002c0004t0001	a0001c0001t0001g0137 a0001c0002t0001g0124 a0001c0003t0001g0002 others(1): Show a0001c0001t0001g0137 a0001c0002t0001g0124 a0001c0003t0001g0002 a0002c0004t0001g0254	4	358	0.0112	-24	c.-10 others(34): Show c.-1018_-995delATGTGTGTGTGTGTGTGTGTGTGT	KCNH2	ENSG00000055118.17	transcript	ENST00000262186.10	protein_coding		587		chr7	TogoVar
KCNH4_chr17_42151891_42186142	42183412	GCCTTCCT others(17): Show GCCTTCCTTCCTTCCTTCCTTCCTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02056.hp1 HG02027.hp2 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	2	326	0.0061	-24	c.-24 others(35): Show c.-2491_-2468delAAGGAAGGAAGGAAGGAAGGAAGG	KCNH4	ENSG00000089558.9	transcript	ENST00000264661.4	protein_coding		2271		chr17	TogoVar
KCNH7_chr2_162366407_162843767	162748967	CTTCCTTC others(17): Show CTTCCTTCCTTCCTTCCTTCCTTCT	C C	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0096 a0001c0003t0001g0096	1	100	0.0100	-24	c.307 others(43): Show c.307+87546_307+87569delAGAAGGAAGGAAGGAAGGAAGGAA	KCNH7	ENSG00000184611.14	transcript	ENST00000332142.10	protein_coding	2/15			chr2	TogoVar
KCNH8_chr3_19143510_19540642	19308650	GTCTCTCT others(17): Show GTCTCTCTCTCTCTCTCTCTCTCTC	G G	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03579.hp1 HG02683.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0038 a0001c0004t0001g0101 a0001c0001t0001g0038 a0001c0004t0001g0101	2	134	0.0149	-24	c.442 others(43): Show c.442+27366_442+27389delTCTCTCTCTCTCTCTCTCTCTCTC	KCNH8	ENSG00000183960.9	transcript	ENST00000328405.7	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNH8_chr3_19143510_19540642	19308697	TCTCTCTC others(17): Show TCTCTCTCTCTCTCTCTCTCTCCCC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02965.hp2 HG02055.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0018 a0001c0003t0001g0130 a0001c0001t0001g0018 a0001c0003t0001g0130	2	134	0.0149	-24	c.442 others(43): Show c.442+27376_442+27399delTCTCTCTCTCTCTCCCCCTCTCTC	KCNH8	ENSG00000183960.9	transcript	ENST00000328405.7	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNH8_chr3_19143510_19540642	19331249	TTTTATTT others(17): Show TTTTATTTATTTATTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	134	0.0075	-24	c.443 others(43): Show c.443-11323_443-11300delTATTTATTTATTTATTTATTTATT	KCNH8	ENSG00000183960.9	transcript	ENST00000328405.7	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNH8_chr3_19143510_19540642	19472195	CGTGTGTG others(17): Show CGTGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0091 a0001c0009t0001g0091	1	134	0.0075	-24	c.204 others(45): Show c.2040+15242_2040+15265delGTGTGTGTGTGTGTGTGTGTGTGT	KCNH8	ENSG00000183960.9	transcript	ENST00000328405.7	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNH8_chr3_19143510_19540642	19492830	CGTGTGTG others(17): Show CGTGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	134	0.0075	-24	c.204 others(45): Show c.2041-17501_2041-17478delTGTGTGTGTGTGTGTGTGTGTGTG	KCNH8	ENSG00000183960.9	transcript	ENST00000328405.7	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNIP1_chr5_170499020_170741632	170597784	AATATATA others(17): Show AATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00609.hp1 HG00621.hp2 others(48): Show HG00140.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp2 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01433.hp2 HG01496.hp1 HG01943.hp2 HG01952.hp2 HG02027.hp1 HG02027.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02109.hp2 HG02132.hp2 HG02258.hp2 HG02293.hp2 HG02622.hp2 HG02698.hp2 HG02965.hp2 HG03098.hp2 HG03471.hp2 HG03492.hp2 HG03579.hp2 HG03654.hp2 HG03704.hp1 NA18950.hp2 NA18951.hp2 NA18977.hp1 NA18985.hp1 NA19002.hp1 NA19011.hp1 NA19063.hp1 NA19070.hp1 NA19081.hp1 NA19091.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0018 a0001c0001t0025	a0001c0001t0001g0090 a0001c0001t0001g0101 a0001c0001t0001g0117 others(48): Show a0001c0001t0001g0090 a0001c0001t0001g0101 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0131 a0001c0001t0001g0136 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0177 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0002g0061 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0081 a0001c0001t0002g0086 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0132 a0001c0001t0002g0166 a0001c0001t0002g0180 a0001c0001t0003g0008 a0001c0001t0003g0074 a0001c0001t0003g0085 a0001c0001t0003g0089 a0001c0001t0003g0091 a0001c0001t0003g0124 a0001c0001t0003g0133 a0001c0001t0003g0139 a0001c0001t0003g0149 a0001c0001t0003g0163 a0001c0001t0003g0198 a0001c0001t0003g0213 a0001c0001t0004g0041 a0001c0001t0004g0044 a0001c0001t0004g0045 a0001c0001t0004g0046 a0001c0001t0004g0047 a0001c0001t0004g0053 a0001c0001t0005g0040 a0001c0001t0005g0048 a0001c0001t0006g0125 a0001c0001t0007g0038 a0001c0001t0008g0070 a0001c0001t0008g0205 a0001c0001t0018g0054 a0001c0001t0025g0094	51	218	0.2339	-24	c.61+ others(41): Show c.61+93174_61+93197delATATATATATATATATATATATAT	KCNIP1	ENSG00000182132.15	transcript	ENST00000328939.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
KCNIP1_chr5_170499020_170741632	170674165	AAGGAAGG others(17): Show AAGGAAGGAAGGAAGGAAGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02258.hp1 HG02451.hp1 others(11): Show HG02145.hp2 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02630.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG03209.hp1 HG03579.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0022 a0001c0001t0026	a0001c0001t0001g0123 a0001c0001t0002g0121 a0001c0001t0002g0127 others(11): Show a0001c0001t0001g0123 a0001c0001t0002g0121 a0001c0001t0002g0127 a0001c0001t0003g0023 a0001c0001t0003g0124 a0001c0001t0005g0031 a0001c0001t0005g0218 a0001c0001t0006g0147 a0001c0001t0006g0211 a0001c0001t0009g0001 a0001c0001t0010g0018 a0001c0001t0013g0024 a0001c0001t0022g0100 a0001c0001t0026g0106	14	218	0.0642	-24	c.62- others(41): Show c.62-44589_62-44566delAAGGAAGGAAGGAAGGGAGGGAGG	KCNIP1	ENSG00000182132.15	transcript	ENST00000328939.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
KCNIP4_chr4_20723606_21953772	20748558	TTTTATAT others(17): Show TTTTATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0072 a0001c0001t0005g0072	1	80	0.0125	-24	c.429 others(41): Show c.429+1080_429+1103delTATATATATATATATATATATAAA	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	5/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	20916985	TTATATAT others(17): Show TTATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0030 a0001c0001t0003g0030	1	80	0.0125	-24	c.62- others(41): Show c.62-34300_62-34277delTATATATATATATATATATATATA	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21304045	GAGAGAGA others(17): Show GAGAGAGAGAGAGAGAGAGAGAGAC	G G	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG03654.hp2 HG01517.hp2 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0006 a0001c0002t0002g0011 a0001c0002t0001g0006 a0001c0002t0002g0011	2	80	0.0250	-24	c.62- others(43): Show c.62-421360_62-421337delGTCTCTCTCTCTCTCTCTCTCTCT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21400528	CTCTTCTC others(17): Show CTCTTCTCTTCTCTTCTCTTCTCTT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0062 a0001c0002t0005g0062	1	80	0.0125	-24	c.62- others(43): Show c.62-517843_62-517820delAAGAGAAGAGAAGAGAAGAGAAGA	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21528764	AAAGAAAG others(17): Show AAAGAAAGAAAGAAAGGAAGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0050 a0001c0002t0006g0050	1	80	0.0125	-24	c.61+ others(43): Show c.61+419783_61+419806delCCTTTCTTCCTTTCTTTCTTTCTT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21528784	AAAGGAAG others(17): Show AAAGGAAGAAAGGAAGAAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0059 a0001c0001t0013g0059	1	80	0.0125	-24	c.61+ others(43): Show c.61+419763_61+419786delCCTTCCTTTCTTCCTTTCTTCCTT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21589178	ATATATAT others(17): Show ATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0047 a0001c0002t0008g0047	1	80	0.0125	-24	c.61+ others(43): Show c.61+359369_61+359392delCATATATATATATATATATATATA	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNJ12_chr17_21371357_21424870	21424154	AGAAATCG others(17): Show AGAAATCGCAAAACTTCTCTGAGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0010 a0001c0001t0007g0010	1	376	0.0027	-24	c.75 others(35): Show c.7511_*7534delGAAATCGCAAAACTTCTCTGAGAG	KCNJ12	ENSG00000184185.10	transcript	ENST00000583088.6	protein_coding		4285		chr17	TogoVar
KCNJ16_chr17_70070225_70140608	70092523	TACATAGA others(17): Show TACATAGACAGATAGATATAGATAG	T T	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	330	0.0030	-24	c.-29 others(43): Show c.-299-8133_-299-8110delCATAGACAGATAGATATAGATAGA	KCNJ16	ENSG00000153822.15	transcript	ENST00000392671.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
KCNJ18_chr17_21687523_21709612	21695238	TCCATTCA others(17): Show TCCATTCATCCACTCATCCATTCAC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01517.hp1 HG01517.hp2 others(39): Show HG01167.hp1 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG02300.hp1 HG02897.hp1 HG02976.hp2 HG03239.hp1 NA18941.hp1 NA18949.hp2 NA18955.hp1 NA18955.hp2 NA18962.hp1 NA18965.hp1 NA18966.hp2 NA18975.hp1 NA18980.hp1 NA18987.hp2 NA18990.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA19006.hp2 NA19011.hp1 NA19011.hp2 NA19054.hp1 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19063.hp1 NA19067.hp2 NA19072.hp1 NA19077.hp1 NA19081.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19091.hp2	a0002 a0010 a0011 others(2): Show a0002 a0010 a0011 a0012 a0013	a0002c0002 a0002c0005 a0010c0010 others(3): Show a0002c0002 a0002c0005 a0010c0010 a0011c0007 a0012c0008 a0013c0009	a0002c0002t0002 a0002c0002t0003 a0002c0002t0008 others(7): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0008 a0002c0005t0005 a0002c0005t0006 a0002c0005t0007 a0010c0010t0009 a0011c0007t0002 a0012c0008t0002 a0013c0009t0005	a0002c0002t0002g0003 a0002c0002t0002g0007 a0002c0002t0002g0020 others(25): Show a0002c0002t0002g0003 a0002c0002t0002g0007 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0027 a0002c0002t0002g0030 a0002c0002t0003g0004 a0002c0002t0003g0011 a0002c0002t0003g0012 a0002c0002t0003g0013 a0002c0002t0003g0026 a0002c0002t0003g0029 a0002c0002t0003g0031 a0002c0002t0003g0032 a0002c0002t0008g0028 a0002c0005t0005g0008 a0002c0005t0005g0014 a0002c0005t0005g0034 a0002c0005t0006g0019 a0002c0005t0006g0033 a0002c0005t0007g0035 a0010c0010t0009g0018 a0011c0007t0002g0003 a0012c0008t0002g0022 a0013c0009t0005g0008	42	112	0.3750	-24	c.-17 others(41): Show c.-178-724_-178-701delTCACCCATTCATCCACTCATCCAT	KCNJ18	ENSG00000260458.3	transcript	ENST00000567955.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr17	TogoVar
KCNJ3_chr2_154693695_154863354	154736374	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02055.hp1 HG02055.hp2 others(5): Show HG01261.hp1 HG02055.hp1 HG02055.hp2 HG02451.hp2 HG03471.hp2 HG03540.hp2 HG03579.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0007 a0001c0001t0029 others(2): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0029 a0001c0001t0048 a0001c0002t0039	a0001c0001t0004g0142 a0001c0001t0004g0143 a0001c0001t0004g0149 others(5): Show a0001c0001t0004g0142 a0001c0001t0004g0143 a0001c0001t0004g0149 a0001c0001t0007g0150 a0001c0001t0007g0151 a0001c0001t0029g0088 a0001c0001t0048g0140 a0001c0002t0039g0238	8	284	0.0282	-24	c.919 others(43): Show c.919+26572_919+26595delAAAAAAAAAAAAAAAAAAAAAAAA	KCNJ3	ENSG00000162989.5	transcript	ENST00000295101.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
KCNJ3_chr2_154693695_154863354	154825541	ATTATTTA others(17): Show ATTATTTATTTATTTATTTATTTAT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0252 a0001c0002t0010g0252	1	284	0.0035	-24	c.920 others(43): Show c.920-29164_920-29141delTATTTATTTATTTATTTATTTATT	KCNJ3	ENSG00000162989.5	transcript	ENST00000295101.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
KCNJ6_chr21_37602373_37921457	37617169	TTTCCTTC others(17): Show TTTCCTTCCTTCCTTCCTTCCTTCC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00673.hp1 HG02257.hp2 HG02486.hp2 others(9): Show HG00673.hp1 HG02257.hp2 HG02486.hp2 HG02630.hp2 HG02723.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03486.hp2 NA18955.hp1 NA18961.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0175 a0001c0001t0176 a0001c0001t0177 others(9): Show a0001c0001t0175 a0001c0001t0176 a0001c0001t0177 a0001c0001t0178 a0001c0001t0179 a0001c0001t0180 a0001c0001t0181 a0001c0001t0183 a0001c0001t0184 a0001c0001t0185 a0001c0001t0186 a0001c0003t0182	a0001c0001t0175g0145 a0001c0001t0176g0165 a0001c0001t0177g0016 others(9): Show a0001c0001t0175g0145 a0001c0001t0176g0165 a0001c0001t0177g0016 a0001c0001t0178g0141 a0001c0001t0179g0079 a0001c0001t0180g0183 a0001c0001t0181g0093 a0001c0001t0183g0044 a0001c0001t0184g0139 a0001c0001t0185g0194 a0001c0001t0186g0057 a0001c0003t0182g0033	12	198	0.0606	-24	c.79 others(35): Show c.7966_*7989delGGAAGGAAGGAAGGAAGGAAGGAA	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	4/4	7966		chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37655212	TGTGTGTG others(17): Show TGTGTGTGTGTGTGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0129 a0001c0003t0129	a0001c0003t0129g0114 a0001c0003t0129g0114	1	198	0.0051	-24	c.947 others(43): Show c.947-29752_947-29729delTCTCTCTCTCTCACACACACACAC	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	3/3			chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37655214	TGTGTGTG others(17): Show TGTGTGTGTGTGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp2 NA18939.hp2 others(1): Show HG00438.hp2 HG00609.hp2 NA18939.hp2 NA19001.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0051 a0001c0003t0114 a0001c0003t0117 others(1): Show a0001c0003t0051 a0001c0003t0114 a0001c0003t0117 a0001c0003t0118	a0001c0003t0051g0005 a0001c0003t0114g0116 a0001c0003t0117g0177 others(1): Show a0001c0003t0051g0005 a0001c0003t0114g0116 a0001c0003t0117g0177 a0001c0003t0118g0121	4	198	0.0202	-24	c.947 others(43): Show c.947-29754_947-29731delTCTCTCTCTCTCTCACACACACAC	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	3/3			chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37655218	TGTGTGTG others(17): Show TGTGTGTGAGAGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG04115.hp2 HG03017.hp1 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0127 a0001c0002t0005g0155 a0001c0002t0005g0127 a0001c0002t0005g0155	2	198	0.0101	-24	c.947 others(43): Show c.947-29758_947-29735delTCTCTCTCTCTCTCTCTCACACAC	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	3/3			chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37745072	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00609.hp2 HG00639.hp2 others(33): Show HG00438.hp1 HG00609.hp2 HG00639.hp2 HG00673.hp2 HG01074.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp2 HG01358.hp2 HG01978.hp1 HG02040.hp2 HG02071.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02486.hp2 HG02630.hp2 HG02738.hp2 HG04115.hp1 HG04199.hp2 NA18939.hp1 NA18944.hp1 NA18950.hp1 NA18955.hp1 NA18971.hp1 NA18983.hp2 NA19000.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19055.hp2 NA19060.hp1 NA19062.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006	a0001c0001t0024 a0001c0001t0029 a0001c0001t0032 others(32): Show a0001c0001t0024 a0001c0001t0029 a0001c0001t0032 a0001c0001t0033 a0001c0001t0039 a0001c0001t0040 a0001c0001t0044 a0001c0001t0046 a0001c0001t0047 a0001c0001t0052 a0001c0001t0053 a0001c0001t0066 a0001c0001t0068 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0077 a0001c0001t0078 a0001c0001t0088 a0001c0001t0098 a0001c0001t0122 a0001c0001t0136 a0001c0001t0179 a0001c0001t0181 a0001c0001t0184 a0001c0002t0006 a0001c0002t0017 a0001c0002t0156 a0001c0003t0048 a0001c0003t0051 a0001c0003t0116 a0001c0003t0121 a0001c0003t0127 a0001c0003t0130 a0001c0006t0076	a0001c0001t0024g0083 a0001c0001t0029g0075 a0001c0001t0032g0110 others(33): Show a0001c0001t0024g0083 a0001c0001t0029g0075 a0001c0001t0032g0110 a0001c0001t0033g0119 a0001c0001t0039g0021 a0001c0001t0040g0086 a0001c0001t0044g0156 a0001c0001t0046g0133 a0001c0001t0047g0179 a0001c0001t0052g0173 a0001c0001t0053g0060 a0001c0001t0066g0090 a0001c0001t0068g0152 a0001c0001t0073g0106 a0001c0001t0074g0067 a0001c0001t0075g0024 a0001c0001t0077g0042 a0001c0001t0078g0068 a0001c0001t0088g0055 a0001c0001t0098g0105 a0001c0001t0122g0180 a0001c0001t0136g0046 a0001c0001t0179g0079 a0001c0001t0181g0093 a0001c0001t0184g0139 a0001c0002t0006g0053 a0001c0002t0006g0091 a0001c0002t0017g0022 a0001c0002t0156g0043 a0001c0003t0048g0082 a0001c0003t0051g0005 a0001c0003t0116g0065 a0001c0003t0121g0125 a0001c0003t0127g0036 a0001c0003t0130g0185 a0001c0006t0076g0034	36	198	0.1818	-24	c.26- others(41): Show c.26-29965_26-29942delAAAAAAAAAAAAAAAAAAAAAAAA	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	2/3			chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37780130	AAAAGACA others(17): Show AAAAGACATAGTTTTTAAGCCACAG	A A	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04204.hp2 HG04199.hp1 HG04204.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0149 a0001c0003t0134 a0001c0002t0149 a0001c0003t0134	a0001c0002t0149g0066 a0001c0003t0134g0028 a0001c0002t0149g0066 a0001c0003t0134g0028	2	198	0.0101	-24	c.25+ others(41): Show c.25+60504_25+60527delCTGTGGCTTAAAAACTATGTCTTT	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	2/3			chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37914008	GGTGTGTG others(17): Show GGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0101 a0001c0001t0064g0101	1	198	0.0051	-24	c.-28 others(41): Show c.-28+1852_-28+1875delACACACACACACACACACACACAC	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	1/3			chr21	TogoVar
KCNK10_chr14_88175108_88328269	88310157	CATATACC others(17): Show CATATACCATATCATATGGTATATG	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00639.hp1 HG02109.hp2 others(8): Show HG00438.hp1 HG00639.hp1 HG02109.hp2 HG02145.hp2 HG02723.hp1 HG02922.hp1 HG03041.hp1 HG03239.hp2 HG03688.hp2 NA18960.hp2 NA19064.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0002c0004	a0001c0001t0007 a0001c0001t0019 a0001c0002t0003 others(6): Show a0001c0001t0007 a0001c0001t0019 a0001c0002t0003 a0001c0002t0012 a0001c0003t0001 a0001c0003t0041 a0001c0005t0047 a0001c0006t0029 a0002c0004t0038	a0001c0001t0007g0259 a0001c0001t0007g0260 a0001c0001t0019g0209 others(8): Show a0001c0001t0007g0259 a0001c0001t0007g0260 a0001c0001t0019g0209 a0001c0002t0003g0050 a0001c0002t0012g0210 a0001c0003t0001g0257 a0001c0003t0001g0261 a0001c0003t0041g0239 a0001c0005t0047g0008 a0001c0006t0029g0214 a0002c0004t0038g0303	11	334	0.0329	-24	c.52+ others(41): Show c.52+12566_52+12589delCATATACCATATGATATGGTATAT	KCNK10	ENSG00000100433.16	transcript	ENST00000319231.10	protein_coding	1/6			chr14	TogoVar
KCNK17_chr6_39294001_39319419	39311072	GCACACAC others(17): Show GCACACACACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0237 a0001c0002t0001g0237	1	454	0.0022	-24	c.238 others(37): Show c.238-89_238-66delTGTGTGTGTGTGTGTGTGTGTGTG	KCNK17	ENSG00000124780.14	transcript	ENST00000373231.9	protein_coding	1/4			chr6	TogoVar
KCNK6_chr19_38314845_38337076	38336502	CGGCCGGG others(17): Show CGGCCGGGAGCAAGAGCAGGGGCGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00733.hp2 HG01106.hp1 others(21): Show HG00673.hp1 HG00733.hp2 HG01106.hp1 HG02027.hp2 HG02080.hp1 HG02109.hp1 HG03130.hp1 HG03516.hp2 HG03654.hp1 NA18939.hp1 NA18946.hp2 NA18951.hp2 NA18955.hp1 NA18970.hp2 NA18973.hp1 NA18974.hp1 NA18980.hp1 NA18983.hp2 NA19011.hp1 NA19012.hp1 NA19060.hp2 NA19063.hp2 NA19077.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0004 a0001c0005t0070 a0001c0005t0072 others(4): Show a0001c0001t0004 a0001c0005t0070 a0001c0005t0072 a0001c0005t0073 a0001c0005t0074 a0001c0005t0075 a0002c0002t0021	a0001c0001t0004g0006 a0001c0001t0004g0033 a0001c0001t0004g0034 others(7): Show a0001c0001t0004g0006 a0001c0001t0004g0033 a0001c0001t0004g0034 a0001c0001t0004g0035 a0001c0005t0070g0014 a0001c0005t0072g0014 a0001c0005t0073g0014 a0001c0005t0074g0014 a0001c0005t0075g0053 a0002c0002t0021g0021	24	398	0.0603	-24	c.91 others(35): Show c.9100_*9123delGGCCGGGAGCAAGAGCAGGGGCGG	KCNK6	ENSG00000099337.5	transcript	ENST00000263372.5	protein_coding		4427		chr19	TogoVar
KCNK9_chr8_139612121_139708123	139636557	CAAAACTT others(17): Show CAAAACTTTAGCCAACTTCCAGAAG	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03486.hp2 HG02895.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0009 a0001c0001t0008 a0001c0001t0009	a0001c0001t0008g0074 a0001c0001t0009g0078 a0001c0001t0008g0074 a0001c0001t0009g0078	2	322	0.0062	-24	c.284 others(43): Show c.284-17482_284-17459delCTTCTGGAAGTTGGCTAAAGTTTT	KCNK9	ENSG00000169427.8	transcript	ENST00000520439.3	protein_coding	1/1			chr8	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)