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 (≤).

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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
KCNA2_chr1_110588580_110611358	110594295	A A	ATATATAT others(27): Show ATATATATATATACATATATATATATATATGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0080 a0001c0001t0080	a0001c0001t0080g0085 a0001c0001t0080g0085	1	438	0.0023	34	c.89 others(45): Show c.8987_*8988insCACACATATATATATATATATGTATATATATATA	KCNA2	ENSG00000177301.16	transcript	ENST00000316361.10	protein_coding	3/3	8987		chr1	TogoVar
KCNB1_chr20_49358877_49487668	49463721	C C	CACACACA others(27): Show CACACACAGATGTTAAGTGCAAAGACAACACACAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp1 HG00673.hp2 others(21): Show HG00140.hp2 HG00642.hp1 HG00673.hp2 HG01978.hp2 HG02074.hp2 HG02155.hp2 HG02451.hp2 HG02698.hp1 HG02723.hp1 HG04204.hp2 NA18950.hp2 NA18959.hp1 NA18969.hp2 NA18970.hp1 NA18979.hp1 NA18998.hp2 NA19002.hp1 NA19007.hp2 NA19054.hp1 NA19083.hp2 NA19084.hp2 NA19087.hp2 NA19088.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0017 a0001c0001t0018 a0001c0001t0035 a0001c0001t0039 a0001c0001t0050 a0001c0001t0067 a0001c0001t0069 a0001c0001t0126 a0001c0001t0127 a0001c0001t0128 a0001c0001t0130	a0001c0001t0001g0028 a0001c0001t0003g0102 a0001c0001t0004g0021 others(21): Show a0001c0001t0001g0028 a0001c0001t0003g0102 a0001c0001t0004g0021 a0001c0001t0004g0024 a0001c0001t0005g0020 a0001c0001t0005g0023 a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0005g0029 a0001c0001t0005g0084 a0001c0001t0006g0215 a0001c0001t0017g0005 a0001c0001t0017g0027 a0001c0001t0018g0019 a0001c0001t0035g0008 a0001c0001t0039g0044 a0001c0001t0039g0045 a0001c0001t0050g0022 a0001c0001t0067g0085 a0001c0001t0069g0087 a0001c0001t0126g0054 a0001c0001t0127g0086 a0001c0001t0128g0255 a0001c0001t0130g0088	24	278	0.0863	34	c.567 others(53): Show c.567+18192_567+18193insATGTGTGTTGTCTTTGCACTTAACAT CTGTGTGT	KCNB1	ENSG00000158445.10	transcript	ENST00000371741.6	protein_coding	1/1			chr20	TogoVar
KCNE3_chr11_74449841_74472549	74456155	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01255.hp2 HG01943.hp2 HG02148.hp1 others(1): Show HG01255.hp2 HG01943.hp2 HG02148.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0065 a0001c0001t0028 a0001c0001t0065	a0001c0001t0028g0130 a0001c0001t0028g0154 a0001c0001t0028g0206 others(1): Show a0001c0001t0028g0130 a0001c0001t0028g0154 a0001c0001t0028g0206 a0001c0001t0065g0126	4	446	0.0090	34	c.10 others(45): Show c.1096_*1097insATATATATATATATATATATATATATATATATAT	KCNE3	ENSG00000175538.11	transcript	ENST00000310128.9	protein_coding	3/3	1096		chr11	TogoVar
KCNH1_chr1_210673314_211139148	210806824	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0111 a0003c0004t0003g0111	1	164	0.0061	34	c.146 others(53): Show c.1463-2659_1463-2658insATATATATATATATATATATATATAT ATATATAT	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	7/10			chr1	TogoVar
KCNH1_chr1_210673314_211139148	210856877	C C	CTATATAT others(27): Show CTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG06807.hp1 HG00140.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0004 a0001c0009t0001 a0001c0001t0004 a0001c0009t0001	a0001c0001t0004g0046 a0001c0009t0001g0114 a0001c0001t0004g0046 a0001c0009t0001g0114	2	164	0.0122	34	c.146 others(55): Show c.1463-52712_1463-52711insTATATATATATATATATATATATA TATATATATA	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	7/10			chr1	TogoVar
KCNH1_chr1_210673314_211139148	210856898	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18969.hp2 NA18946.hp1 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0071 a0001c0002t0001g0123 a0001c0001t0003g0071 a0001c0002t0001g0123	2	164	0.0122	34	c.146 others(55): Show c.1463-52733_1463-52732insTTATATATATATATATATATATAT ATATATATAT	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	7/10			chr1	TogoVar
KCNH1_chr1_210673314_211139148	211045041	G G	GATATATA others(27): Show GATATATAGATATATAGATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0110	1	164	0.0061	34	c.559 others(53): Show c.559-25786_559-25785insATATATATATATATATATCTATATAT CTATATAT	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	5/10			chr1	TogoVar
KCNH1_chr1_210673314_211139148	211045041	G G	GATATATA others(27): Show GATATATAGATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 NA18959.hp2 HG01074.hp1 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0108 a0001c0001t0004g0113 a0001c0001t0002g0108 a0001c0001t0004g0113	2	164	0.0122	34	c.559 others(53): Show c.559-25786_559-25785insATATATATATATATATATATATATAT CTATATAT	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	5/10			chr1	TogoVar
KCNH1_chr1_210673314_211139148	211045041	G G	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02293.hp1 HG02630.hp1 others(2): Show HG00099.hp2 HG02293.hp1 HG02630.hp1 HG03710.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001	a0001c0001t0003g0098 a0001c0001t0005g0006 a0001c0001t0006g0116 others(2): Show a0001c0001t0003g0098 a0001c0001t0005g0006 a0001c0001t0006g0116 a0001c0002t0001g0096 a0001c0002t0001g0128	5	164	0.0305	34	c.559 others(53): Show c.559-25786_559-25785insATATATATATATATATATATATATAT ATATATAT	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	5/10			chr1	TogoVar
KCNH8_chr3_19143510_19540642	19206168	G G	GTGTGTGT others(27): Show GTGTGTGTGTGTGTGTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02818.hp2 HG03516.hp1 HG02486.hp2 HG02818.hp2 HG03516.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0005 a0001c0001 a0002c0002 a0003c0005	a0001c0001t0001 a0002c0002t0001 a0003c0005t0001 a0001c0001t0001 a0002c0002t0001 a0003c0005t0001	a0001c0001t0001g0010 a0002c0002t0001g0011 a0003c0005t0001g0009 a0001c0001t0001g0010 a0002c0002t0001g0011 a0003c0005t0001g0009	3	134	0.0224	34	c.77- others(51): Show c.77-47485_77-47484insGTGTGTGTGTGTGTGTGTGTATATATAT ATATAT	KCNH8	ENSG00000183960.9	transcript	ENST00000328405.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNIP4_chr4_20723606_21953772	21190367	G G	GGTATTGG others(27): Show GGTATTGGTTAGTATTCATTAGTATTGGTTCATTA	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	80	0.0125	34	c.62- others(53): Show c.62-307659_62-307658insTAATGAACCAATACTAATGAATACTA ACCAATAC	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21519564	A A	ATGTGTAT others(27): Show ATGTGTATATACACATATGTGTGTATATGTATGTG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02486.hp1 HG02280.hp2 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0006 a0001c0003t0003 a0001c0002t0006 a0001c0003t0003	a0001c0002t0006g0053 a0001c0003t0003g0029 a0001c0002t0006g0053 a0001c0003t0003g0029	2	80	0.0250	34	c.61+ others(53): Show c.61+429006_61+429007insCACATACATATACACACATATGTGTA TATACACA	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNJ10_chr1_160032467_160075160	160049677	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0180 a0001c0001t0003g0180	1	408	0.0025	34	c.1-7 others(47): Show c.1-7146_1-7145insAATATATATATATATATATATATATATATATA TA	KCNJ10	ENSG00000177807.10	transcript	ENST00000644903.1	protein_coding	1/1			chr1	TogoVar
KCNJ10_chr1_160032467_160075160	160049679	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA20300.hp2 HG03486.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0048 a0001c0001t0009 a0001c0001t0048	a0001c0001t0009g0175 a0001c0001t0048g0212 a0001c0001t0009g0175 a0001c0001t0048g0212	2	408	0.0049	34	c.1-7 others(47): Show c.1-7148_1-7147insAATATATATATATATATATATATATATATATA TA	KCNJ10	ENSG00000177807.10	transcript	ENST00000644903.1	protein_coding	1/1			chr1	TogoVar
KCNJ10_chr1_160032467_160075160	160049681	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02027.hp1 HG03225.hp2 others(1): Show HG01978.hp2 HG02027.hp1 HG03225.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0025 a0001c0001t0043 a0001c0001t0003 a0001c0001t0025 a0001c0001t0043	a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0025g0281 others(1): Show a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0025g0281 a0001c0001t0043g0123	4	408	0.0098	34	c.1-7 others(47): Show c.1-7150_1-7149insAATATATATATATATATATATATATATATATA TA	KCNJ10	ENSG00000177807.10	transcript	ENST00000644903.1	protein_coding	1/1			chr1	TogoVar
KCNJ10_chr1_160032467_160075160	160049683	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02280.hp2 HG02293.hp2 HG01109.hp2 HG02280.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0010 a0001c0001t0006 a0001c0001t0010	a0001c0001t0006g0015 a0001c0001t0010g0165 a0001c0001t0006g0015 a0001c0001t0010g0165	3	408	0.0074	34	c.1-7 others(47): Show c.1-7152_1-7151insAATATATATATATATATATATATATATATATA TA	KCNJ10	ENSG00000177807.10	transcript	ENST00000644903.1	protein_coding	1/1			chr1	TogoVar
KCNJ10_chr1_160032467_160075160	160049683	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0163 a0001c0001t0003g0163	1	408	0.0025	34	c.1-7 others(47): Show c.1-7152_1-7151insAAAATATATATATATATATATATATATATATA TA	KCNJ10	ENSG00000177807.10	transcript	ENST00000644903.1	protein_coding	1/1			chr1	TogoVar
KCNJ10_chr1_160032467_160075160	160049685	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0162 a0001c0001t0004g0162	1	408	0.0025	34	c.1-7 others(47): Show c.1-7154_1-7153insAATATATATATATATATATATATATATATATA TA	KCNJ10	ENSG00000177807.10	transcript	ENST00000644903.1	protein_coding	1/1			chr1	TogoVar
KCNJ15_chr21_38251991_38312357	38256359	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0031 a0001c0003t0005g0031	1	406	0.0025	34	c.-94 others(43): Show c.-943_-942insATATATATATATATATATATATATATATATATAT	KCNJ15	ENSG00000157551.19	transcript	ENST00000398938.7	protein_coding		631		chr21	TogoVar
KCNJ15_chr21_38251991_38312357	38256360	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG02647.hp2 HG02723.hp1 others(1): Show HG01261.hp2 HG02647.hp2 HG02723.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0010 a0001c0001t0013 a0001c0003t0005 a0001c0001t0010 a0001c0001t0013 a0001c0003t0005	a0001c0001t0010g0198 a0001c0001t0013g0216 a0001c0003t0005g0034 others(1): Show a0001c0001t0010g0198 a0001c0001t0013g0216 a0001c0003t0005g0034 a0001c0003t0005g0186	4	406	0.0099	34	c.-94 others(43): Show c.-942_-941insTATATATATATATATATATATATATATATATATA	KCNJ15	ENSG00000157551.19	transcript	ENST00000398938.7	protein_coding		630		chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37616590	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02965.hp1 NA19043.hp1 HG02965.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0022 a0001c0001t0020 a0001c0001t0022	a0001c0001t0020g0023 a0001c0001t0022g0097 a0001c0001t0020g0023 a0001c0001t0022g0097	2	198	0.0101	34	c.85 others(45): Show c.8568_*8569insATATATATATATATATATATATATATATATATAT	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	4/4	8568		chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37630134	C C	CTGTGTGT others(27): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18963.hp2 NA19057.hp1 others(1): Show HG00544.hp1 NA18963.hp2 NA19057.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0010 a0001c0001t0164 a0001c0003t0079 others(1): Show a0001c0001t0010 a0001c0001t0164 a0001c0003t0079 a0001c0003t0126	a0001c0001t0010g0002 a0001c0001t0164g0171 a0001c0003t0079g0038 others(1): Show a0001c0001t0010g0002 a0001c0001t0164g0171 a0001c0003t0079g0038 a0001c0003t0126g0035	4	198	0.0202	34	c.947 others(51): Show c.947-4651_947-4650insCACACACACACACACACACACACACACA CACACA	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	3/3			chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37853846	G G	GTGTATAT others(27): Show GTGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02622.hp1 NA18961.hp1 HG01891.hp1 HG02622.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0059 a0001c0001t0173 a0001c0002t0003 a0001c0001t0059 a0001c0001t0173 a0001c0002t0003	a0001c0001t0059g0178 a0001c0001t0173g0128 a0001c0002t0003g0158 a0001c0001t0059g0178 a0001c0001t0173g0128 a0001c0002t0003g0158	3	198	0.0152	34	c.-27 others(53): Show c.-27-13138_-27-13137insTATATATATATATATATATATATATA TATATACA	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	1/3			chr21	TogoVar
KCNK10_chr14_88175108_88328269	88212109	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0148 a0001c0003t0001g0148	1	334	0.0030	34	c.681 others(53): Show c.681+15265_681+15266insATATATATATATATATATATATATAT ATATATAT	KCNK10	ENSG00000100433.16	transcript	ENST00000319231.10	protein_coding	4/6			chr14	TogoVar
KCNK13_chr14_90056994_90190853	90101790	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0019 a0001c0001t0003g0019	1	320	0.0031	34	c.334 others(53): Show c.334+39273_334+39274insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	KCNK13	ENSG00000152315.5	transcript	ENST00000282146.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
KCNK15_chr20_44740865_44757313	44745377	T T	TGAAAGGA others(27): Show TGAAAGGAAGGGACGAAGGGAGGAAGGGATGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	422	0.0024	34	c.-53 others(43): Show c.-534_-533insGAAAGGAAGGGACGAAGGGAGGAAGGGATGAAAG	KCNK15	ENSG00000124249.7	transcript	ENST00000372861.5	protein_coding		487		chr20	TogoVar
KCNK2_chr1_215077737_215242090	215209344	T T	TATTATAT others(27): Show TATTATATATAATATATGCATATATTATATATAAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	260	0.0039	34	c.963 others(53): Show c.963+14254_963+14255insTATATATAATATATGCATATATTATA TATAAAAT	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNK2_chr1_215077737_215242090	215209638	G G	GTAAAATA others(27): Show GTAAAATATATATTATATATAAAATATATAATATA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01167.hp1 HG01517.hp2 others(9): Show HG01071.hp1 HG01167.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01993.hp1 HG02004.hp2 HG02630.hp2 HG02735.hp1 HG03516.hp1 HG03704.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0014 others(5): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0014 a0001c0001t0018 a0001c0001t0030 a0001c0001t0052 a0001c0001t0063 a0001c0001t0067	a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 others(9): Show a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0005g0038 a0001c0001t0005g0079 a0001c0001t0005g0087 a0001c0001t0014g0153 a0001c0001t0018g0136 a0001c0001t0030g0107 a0001c0001t0052g0126 a0001c0001t0063g0138 a0001c0001t0067g0096	12	260	0.0462	34	c.963 others(53): Show c.963+14592_963+14625dupTTATATATAAAATATATAATATATAA AATATATA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNK3_chr2_26687722_26738420	26735208	A A	AACACACA others(27): Show AACACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0260 a0001c0001t0002g0260	1	336	0.0030	34	c.66 others(45): Show c.6640_*6641insACACACACACACACACACACACACACACACACAC	KCNK3	ENSG00000171303.8	transcript	ENST00000302909.4	protein_coding		1789		chr2	TogoVar
KCNK6_chr19_38314845_38337076	38328878	G G	GAGAGAAA others(27): Show GAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0067 a0003c0003t0067	a0003c0003t0067g0002 a0003c0003t0067g0002	1	398	0.0025	34	c.14 others(45): Show c.1478_*1479insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	KCNK6	ENSG00000099337.5	transcript	ENST00000263372.5	protein_coding	3/3	1479	INFO_REALIGN_3_PRIME	chr19	TogoVar
KCNK9_chr8_139612121_139708123	139687337	C C	CATACATA others(27): Show CATACATATATATATATGTATACATATATATGTGT	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	322	0.0031	34	c.283 others(53): Show c.283+15339_283+15372dupACACATATATATGTATACATATATAT ATATGTAT	KCNK9	ENSG00000169427.8	transcript	ENST00000520439.3	protein_coding	1/1			chr8	TogoVar
KCNK9_chr8_139612121_139708123	139687427	T T	TATATATT others(27): Show TATATATTCATATATATGTATACACATATATATTC	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0149 a0001c0002t0001g0149	1	322	0.0031	34	c.283 others(53): Show c.283+15249_283+15282dupGAATATATATGTGTATACATATATAT GAATATAT	KCNK9	ENSG00000169427.8	transcript	ENST00000520439.3	protein_coding	1/1			chr8	TogoVar
KCNK9_chr8_139612121_139708123	139687464	A A	ATATATGT others(27): Show ATATATGTGTATACATATATATTCATATATATGTG	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	322	0.0031	34	c.283 others(53): Show c.283+15245_283+15246insCACATATATATGAATATATATGTATA CACATATA	KCNK9	ENSG00000169427.8	transcript	ENST00000520439.3	protein_coding	1/1			chr8	TogoVar
KCNK9_chr8_139612121_139708123	139704127	T T	TGTGTGTG others(27): Show TGTGTGTGTGTGTGTGTGTGCGCGTGTGTATGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0298 a0001c0001t0003g0298	1	322	0.0031	34	c.-11 others(45): Show c.-1136_-1135insGCACATACACACGCGCACACACACACACACACAC	KCNK9	ENSG00000169427.8	transcript	ENST00000520439.3	protein_coding		1005		chr8	TogoVar
KCNK9_chr8_139612121_139708123	139704967	C C	CACACACA others(27): Show CACACACACATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	322	0.0031	34	c.-19 others(45): Show c.-1976_-1975insATATATATATATATATATATATATATGTGTGTGT	KCNK9	ENSG00000169427.8	transcript	ENST00000520439.3	protein_coding		1845		chr8	TogoVar
KCNMA1_chr10_76879882_77642808	76885197	A A	ATATATAG others(27): Show ATATATAGTTATATATATAGTTATATATATATAAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0035 a0001c0001t0009g0035	1	106	0.0094	34	c.20 others(45): Show c.2035_*2068dupATTATATATATATAACTATATATATAACTATATA	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	28/28	2068		chr10	TogoVar
KCNMA1_chr10_76879882_77642808	77555057	T T	TACACACA others(27): Show TACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	106	0.0094	34	c.378 others(53): Show c.378+82207_378+82208insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	1/27			chr10	TogoVar
KCNMA1_chr10_76879882_77642808	77572569	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0049 a0001c0002t0002g0049	1	106	0.0094	34	c.378 others(53): Show c.378+64662_378+64695dupATATATATATATATATATATATATAT ATATATAT	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	1/27			chr10	TogoVar
KCNMB1_chr5_170369671_170394367	170390517	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAAAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	432	0.0023	34	c.-12 others(45): Show c.-1284_-1283insATATATATATATATATTTTTTTTTTTTTTTTTTT	KCNMB1	ENSG00000145936.9	transcript	ENST00000274629.9	protein_coding		1151		chr5	TogoVar
KCNMB1_chr5_170369671_170394367	170390517	A A	AAAAAAAA others(27): Show AAAAAAAATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0100 a0001c0001t0010g0100	1	432	0.0023	34	c.-12 others(45): Show c.-1284_-1283insATATATATATATATATATATATATATATTTTTTT	KCNMB1	ENSG00000145936.9	transcript	ENST00000274629.9	protein_coding		1151		chr5	TogoVar
KCNMB1_chr5_170369671_170394367	170390517	A A	AAAATATA others(27): Show AAAATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03491.hp2 HG03195.hp1 HG03491.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0036 a0003c0003t0003 a0002c0002t0036 a0003c0003t0003	a0002c0002t0036g0044 a0003c0003t0003g0014 a0002c0002t0036g0044 a0003c0003t0003g0014	2	432	0.0046	34	c.-12 others(45): Show c.-1284_-1283insATATATATATATATATATATATATATATATATTT	KCNMB1	ENSG00000145936.9	transcript	ENST00000274629.9	protein_coding		1151		chr5	TogoVar
KCNMB1_chr5_170369671_170394367	170390517	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 HG02155.hp2 HG01975.hp1 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0003 a0001c0001t0006g0005 a0001c0001t0004g0003 a0001c0001t0006g0005	2	432	0.0046	34	c.-12 others(45): Show c.-1284_-1283insATATATATATATATATATATATATATATATATAT	KCNMB1	ENSG00000145936.9	transcript	ENST00000274629.9	protein_coding		1151		chr5	TogoVar
KCNMB2_chr3_178531436_178849429	178757332	G G	GTATATAT others(27): Show GTATATATATCCAAGAGGATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0162 a0001c0001t0004g0162	1	232	0.0043	34	c.-67 others(53): Show c.-67-50003_-67-49970dupATCCAAGAGGATATATATATATATAT ATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178757349	G G	GATATATA others(27): Show GATATATATATATATATATATATATCCAAGAGGAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0083 a0001c0001t0003g0083	1	232	0.0043	34	c.-67 others(53): Show c.-67-49983_-67-49950dupATATATATATATATCCAAGAGGATAT ATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178757681	G G	GATATATA others(27): Show GATATATATATATATGTATATATATCCAAGAGGAT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02895.hp1 HG01261.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0064 a0001c0001t0003g0212 a0001c0001t0003g0064 a0001c0001t0003g0212	2	232	0.0086	34	c.-67 others(53): Show c.-67-49652_-67-49651insATATGTATATATATCCAAGAGGATAT ATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758527	T T	TATATATA others(27): Show TATATATATATATATATATATATATCCAAGAGGAG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01255.hp2 HG01257.hp2 others(2): Show HG00544.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0157 others(2): Show a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0157 a0001c0001t0003g0187 a0001c0002t0001g0071	5	232	0.0216	34	c.-67 others(53): Show c.-67-48771_-67-48738dupATATATATATATATCCAAGAGGAGAT ATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758968	T T	TATATATA others(27): Show TATATATATATATATATATATATATCTCCAAGGGG	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01975.hp2 HG01952.hp1 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0007 a0001c0001t0004g0181 a0001c0001t0004g0007 a0001c0001t0004g0181	2	232	0.0086	34	c.-67 others(53): Show c.-67-48351_-67-48350insCTCCAAGGGGATATATATATATATAT ATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758978	T T	TCCAAGAG others(27): Show TCCAAGAGGAGATATATATATATATCTCCAAGAGG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02027.hp2 HG03942.hp2 others(7): Show HG01496.hp1 HG02027.hp2 HG03942.hp2 HG06807.hp2 NA18943.hp1 NA18944.hp1 NA18953.hp1 NA18960.hp1 NA18963.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001	a0001c0001t0003g0028 a0001c0001t0003g0041 a0001c0001t0003g0067 others(7): Show a0001c0001t0003g0028 a0001c0001t0003g0041 a0001c0001t0003g0067 a0001c0001t0003g0069 a0001c0001t0003g0081 a0001c0001t0004g0074 a0001c0001t0004g0075 a0001c0002t0001g0146 a0001c0002t0001g0165 a0001c0002t0001g0166	10	232	0.0431	34	c.-67 others(53): Show c.-67-48365_-67-48364insCCAAGAGGAGATATATATATATATCT CCAAGAGG	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4			chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178759249	A A	ATATATAT others(27): Show ATATATATATATCTCCAAGAGGATATATATCTCTC	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0121 a0001c0002t0001g0121	1	232	0.0043	34	c.-67 others(53): Show c.-67-48093_-67-48092insATATATATATCTCCAAGAGGATATAT ATCTCTCT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178778455	G G	GACACACA others(27): Show GACACACACGCACGCACGTGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0055 a0001c0002t0001g0055	1	232	0.0043	34	c.-67 others(53): Show c.-67-28880_-67-28879insGCACGCACGTGCGCGCGCGCGCGCGC ACACACAC	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar

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Search Results (Total: 7994 hits)