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
JPH3_chr16_87597508_87703156	87620488	A A	AGAGAAGG others(33): Show AGAGAAGGAGAGAAGAGAGGGAGAGAAGGAGAGAAGAGAGG	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0257 a0001c0002t0001g0257	1	380	0.0026	40	c.382 others(59): Show c.382+16963_382+16964insAAGGAGAGAAGAGAGGGAGAGAAGGA GAGAAGAGAGGGAG	JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
JPH3_chr16_87597508_87703156	87622548	T T	TGAGGCTG others(33): Show TGAGGCTGTGGCTGGGGTAGGAGGAGAGCTCTCCCTTCTGC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00673.hp2 HG00741.hp2 others(7): Show HG00408.hp2 HG00673.hp2 HG00741.hp2 HG02083.hp2 HG02132.hp2 HG02602.hp2 HG03453.hp2 HG03490.hp2 HG03540.hp1 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0004 a0001c0008 others(6): Show a0001c0003 a0001c0004 a0001c0008 a0001c0009 a0001c0012 a0001c0032 a0001c0033 a0001c0038 a0002c0020	a0001c0003t0030 a0001c0003t0033 a0001c0004t0040 others(7): Show a0001c0003t0030 a0001c0003t0033 a0001c0004t0040 a0001c0008t0008 a0001c0009t0001 a0001c0012t0001 a0001c0032t0019 a0001c0033t0003 a0001c0038t0001 a0002c0020t0001	a0001c0003t0030g0217 a0001c0003t0033g0357 a0001c0004t0040g0272 others(7): Show a0001c0003t0030g0217 a0001c0003t0033g0357 a0001c0004t0040g0272 a0001c0008t0008g0259 a0001c0009t0001g0065 a0001c0012t0001g0064 a0001c0032t0019g0376 a0001c0033t0003g0093 a0001c0038t0001g0069 a0002c0020t0001g0195	10	380	0.0263	40	c.382 others(59): Show c.382+19036_382+19075dupGTAGGAGGAGAGCTCTCCCTTCTGCG AGGCTGTGGCTGGG	JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
KANSL1L_chr2_210016421_210176409	210079648	A A	ATATGTAT others(33): Show ATATGTATGTGTATATATATATATATATATATATGTATGTG	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	284	0.0035	40	c.155 others(59): Show c.1551-3893_1551-3892insCACATACATATATATATATATATATA TATACACATACATA	KANSL1L	ENSG00000144445.17	transcript	ENST00000281772.14	protein_coding	5/14			chr2	TogoVar
KANSL2_chr12_48648211_48687238	48672393	G G	GTATATAT others(33): Show GTATATATATATATACGTGCATATATATATATACGTATATA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0047 a0002c0004t0001g0047	1	322	0.0031	40	c.546 others(55): Show c.546-432_546-431insTATATACGTATATATATATATGCACGTATA TATATATATA	KANSL2	ENSG00000139620.13	transcript	ENST00000420613.7	protein_coding	4/9			chr12	TogoVar
KANSL3_chr2_96588172_96643312	96615165	C C	CAAAAAAA others(33): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0187 a0001c0001t0002g0187	1	340	0.0029	40	c.664 others(57): Show c.664-1547_664-1546insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	KANSL3	ENSG00000114982.19	transcript	ENST00000431828.6	protein_coding	5/20			chr2	TogoVar
KARS1_chr16_75622724_75652665	75624133	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	380	0.0026	40	c.37 others(51): Show c.3761_*3762insAAAAAAAATATATATATATATATATATATATATA TATATA	KARS1	ENSG00000065427.15	transcript	ENST00000302445.8	protein_coding		3590		chr16	TogoVar
KAT2B_chr3_20035446_20159404	20149495	C C	CAAAAAAA others(33): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0270 a0001c0001t0002g0270	1	374	0.0027	40	c.230 others(59): Show c.2305+1033_2305+1034insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAA	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KATNAL1_chr13_30197630_30312551	30269596	G G	GCCCGGCC others(33): Show GCCCGGCCGCCATCCCATCTAAGAAGTGAGGAACGCCTCTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02145.hp2 HG02895.hp2 others(5): Show HG01496.hp2 HG02145.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG03579.hp2 NA19030.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0042 a0001c0001t0125 others(3): Show a0001c0001t0019 a0001c0001t0042 a0001c0001t0125 a0001c0001t0127 a0001c0001t0138 a0001c0001t0199	a0001c0001t0019g0105 a0001c0001t0019g0106 a0001c0001t0019g0107 others(5): Show a0001c0001t0019g0105 a0001c0001t0019g0106 a0001c0001t0019g0107 a0001c0001t0042g0242 a0001c0001t0125g0026 a0001c0001t0127g0233 a0001c0001t0138g0030 a0001c0001t0199g0319	8	386	0.0207	40	c.323 others(59): Show c.323+10466_323+10467insAAGAGGCGTTCCTCACTTCTTAGATG GGATGGCGGCCGGG	KATNAL1	ENSG00000102781.14	transcript	ENST00000380615.8	protein_coding	3/10			chr13	TogoVar
KATNAL1_chr13_30197630_30312551	30269631	C C	CCTCTTCC others(33): Show CCTCTTCCCGGCCGCCATCCCATCTAGGAAGTGAGGAGCGT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02273.hp1 HG02698.hp2 others(1): Show HG02004.hp2 HG02273.hp1 HG02698.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0087 a0001c0001t0209 a0001c0001t0048 a0001c0001t0087 a0001c0001t0209	a0001c0001t0048g0081 a0001c0001t0048g0188 a0001c0001t0087g0153 others(1): Show a0001c0001t0048g0081 a0001c0001t0048g0188 a0001c0001t0087g0153 a0001c0001t0209g0342	4	386	0.0104	40	c.323 others(59): Show c.323+10431_323+10432insACGCTCCTCACTTCCTAGATGGGATG GCGGCCGGGAAGAG	KATNAL1	ENSG00000102781.14	transcript	ENST00000380615.8	protein_coding	3/10			chr13	TogoVar
KATNBL1_chr15_34135674_34215096	34181856	C C	CATATATA others(33): Show CATATATATATCCATATATATATCCATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0207 a0001c0001t0008g0207	1	344	0.0029	40	c.-14 others(59): Show c.-14-18167_-14-18166insATATATATATATATATGGATATATAT ATGGATATATATAT	KATNBL1	ENSG00000134152.11	transcript	ENST00000256544.8	protein_coding	1/9			chr15	TogoVar
KAZN_chr1_14593685_15123043	14883341	A A	AGAGAGAG others(33): Show AGAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0082 a0001c0003t0002g0082	1	146	0.0069	40	c.227 others(59): Show c.227-77341_227-77340insGAGAGGGAGGGAGGGAGGGAGGGAGG GAGGGAGGGAGGGA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14883341	A A	AGAGGGAG others(33): Show AGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0031 a0002c0002t0001g0031	1	146	0.0069	40	c.227 others(59): Show c.227-77341_227-77340insGGGAGGGAGGGAGGGAGGGAGGGAGG GAGGGAGGGAGGGA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14883343	A A	AGAGAGAG others(33): Show AGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGAGAGAGAAG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0129	1	146	0.0069	40	c.227 others(59): Show c.227-77341_227-77340insGAGAGAGAGAGGGAGAGAGAGAGAGA GAGAGAGAGAGAAG	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14			chr1	TogoVar
KAZN_chr1_14593685_15123043	15101164	T T	TTCTCTCT others(33): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01192.hp1 HG01169.hp1 HG01192.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0053 a0002c0002t0001g0055 a0002c0002t0001g0053 a0002c0002t0001g0055	2	146	0.0137	40	c.154 others(57): Show c.1548-356_1548-355insCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCT	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNB2_chr8_72532225_72943349	72920463	A A	ATATATAT others(33): Show ATATATATGTGTGTGTGTATATATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	164	0.0061	40	c.580 others(59): Show c.580-15471_580-15470insATATATGTGTGTGTGTATATATATAT ATATATATGTGTGT	KCNB2	ENSG00000182674.6	transcript	ENST00000523207.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
KCNC3_chr19_50306937_50334377	50331494	T T	TCTTCTTC others(33): Show TCTTCTTCCCCTTCTCCCCATCTCTGGTGTATTTCCCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00544.hp2 others(94): Show HG00408.hp2 HG00423.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00741.hp2 HG01074.hp2 HG01361.hp1 HG01361.hp2 HG01891.hp2 HG01978.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02165.hp2 HG02293.hp2 HG02683.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp2 HG02896.hp2 HG03195.hp2 HG03516.hp1 HG03654.hp1 HG03927.hp1 NA18612.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18955.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp2 NA18983.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA19001.hp1 NA19003.hp1 NA19005.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19054.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19081.hp2 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20752.hp1 NA20905.hp1	a0001 a0002 a0007 others(3): Show a0001 a0002 a0007 a0013 a0014 a0015	a0001c0001 a0001c0002 a0002c0003 others(4): Show a0001c0001 a0001c0002 a0002c0003 a0007c0014 a0013c0017 a0014c0016 a0015c0031	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0025 a0001c0001t0026 a0001c0001t0030 a0001c0001t0034 a0001c0001t0037 a0001c0001t0039 a0001c0001t0040 a0001c0001t0063 a0001c0001t0068 a0001c0001t0069 a0001c0001t0071 a0001c0001t0074 a0001c0001t0082 a0001c0001t0109 a0001c0002t0001 a0002c0003t0001 a0007c0014t0031 a0013c0017t0001 a0014c0016t0031 a0015c0031t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(51): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0154 a0001c0001t0001g0164 a0001c0001t0001g0168 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0225 a0001c0001t0001g0255 a0001c0001t0002g0002 a0001c0001t0002g0172 a0001c0001t0003g0006 a0001c0001t0003g0033 a0001c0001t0003g0189 a0001c0001t0004g0188 a0001c0001t0004g0192 a0001c0001t0005g0156 a0001c0001t0005g0194 a0001c0001t0010g0032 a0001c0001t0010g0178 a0001c0001t0010g0187 a0001c0001t0016g0031 a0001c0001t0016g0186 a0001c0001t0019g0167 a0001c0001t0020g0199 a0001c0001t0025g0204 a0001c0001t0026g0214 a0001c0001t0030g0181 a0001c0001t0034g0165 a0001c0001t0034g0166 a0001c0001t0037g0184 a0001c0001t0039g0221 a0001c0001t0040g0191 a0001c0001t0063g0155 a0001c0001t0068g0182 a0001c0001t0069g0173 a0001c0001t0071g0183 a0001c0001t0074g0185 a0001c0001t0082g0193 a0001c0001t0109g0190 a0001c0002t0001g0013 a0001c0002t0001g0161 a0001c0002t0001g0171 a0002c0003t0001g0176 a0007c0014t0031g0053 a0013c0017t0001g0175 a0014c0016t0031g0153 a0015c0031t0001g0279	97	380	0.2553	40	c.-24 others(51): Show c.-2452_-2413dupGAGGGGGAAATACACCAGAGATGGGGAGAAGGGG AAGAAG	KCNC3	ENSG00000131398.15	transcript	ENST00000477616.2	protein_coding		2118		chr19	TogoVar
KCNH1_chr1_210673314_211139148	210806830	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0005 a0001c0001t0005g0005	1	164	0.0061	40	c.146 others(59): Show c.1463-2665_1463-2664insATATATATATATATATATATATATAT ATATATATATATAT	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	7/10			chr1	TogoVar
KCNH1_chr1_210673314_211139148	210806836	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0068 a0001c0002t0001g0068	1	164	0.0061	40	c.146 others(59): Show c.1463-2671_1463-2670insATATATATATATATATATATATATAT ATATATATATATAT	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	7/10			chr1	TogoVar
KCNH1_chr1_210673314_211139148	210832907	C C	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0012 a0001c0002t0001g0012	1	164	0.0061	40	c.146 others(61): Show c.1463-28742_1463-28741insATATATATATATATATATATATAT ATATATATATATATAT	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	7/10			chr1	TogoVar
KCNH1_chr1_210673314_211139148	211045041	G G	GATATATA others(33): Show GATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02897.hp1 HG03239.hp2 others(2): Show HG02004.hp1 HG02897.hp1 HG03239.hp2 HG03579.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001	a0001c0001t0003g0104 a0001c0001t0004g0034 a0001c0001t0005g0043 others(2): Show a0001c0001t0003g0104 a0001c0001t0004g0034 a0001c0001t0005g0043 a0001c0001t0005g0044 a0001c0002t0001g0101	5	164	0.0305	40	c.559 others(59): Show c.559-25786_559-25785insATATATATATATATATATATATATAT ATATATATATATAT	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	5/10			chr1	TogoVar
KCNH5_chr14_62694464_63050458	63024213	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA18977.hp2 HG02080.hp2 NA18977.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0107 a0002c0002t0004g0108 a0002c0002t0004g0107 a0002c0002t0004g0108	2	224	0.0089	40	c.74- others(55): Show c.74-7260_74-7259insATATATATATATATTTTTTTTTTTTTTTTT TTTTTTTTTT	KCNH5	ENSG00000140015.20	transcript	ENST00000322893.12	protein_coding	1/10			chr14	TogoVar
KCNH5_chr14_62694464_63050458	63047162	G G	GCCTCCCC others(33): Show GCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02129.hp1 HG03486.hp2 HG02027.hp2 HG02129.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0018 a0001c0001t0001 a0001c0001t0002 a0001c0001t0018	a0001c0001t0001g0051 a0001c0001t0002g0176 a0001c0001t0018g0049 a0001c0001t0001g0051 a0001c0001t0002g0176 a0001c0001t0018g0049	3	224	0.0134	40	c.-19 others(51): Show c.-1977_-1976insGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGG	KCNH5	ENSG00000140015.20	transcript	ENST00000322893.12	protein_coding		1705		chr14	TogoVar
KCNIP1_chr5_170499020_170741632	170599624	G G	GATGGACC others(33): Show GATGGACCTAGGGGTGGGGAAGAGCGAGAAGTTCCCGTGCA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0006 a0001c0001t0012g0006	1	218	0.0046	40	c.61+ others(57): Show c.61+95023_61+95062dupTCCCGTGCAATGGACCTAGGGGTGGGGA AGAGCGAGAAGT	KCNIP1	ENSG00000182132.15	transcript	ENST00000328939.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
KCNIP4_chr4_20723606_21953772	21226354	A A	AGAAGGAA others(33): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	80	0.0125	40	c.62- others(59): Show c.62-343646_62-343645insCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTC	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21582006	A A	AAGAATAG others(33): Show AAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0034 a0001c0001t0005g0034	1	80	0.0125	40	c.61+ others(59): Show c.61+366564_61+366565insATTCTATTCTATTCTATTCTATTCTA TTCTATTCTATTCT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNJ10_chr1_160032467_160075160	160049671	T T	TTATTTAT others(33): Show TTATTTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18999.hp1 NA18957.hp1 NA18999.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0004 a0001c0001t0004 a0002c0002t0004	a0001c0001t0004g0234 a0002c0002t0004g0240 a0001c0001t0004g0234 a0002c0002t0004g0240	2	408	0.0049	40	c.1-7 others(53): Show c.1-7179_1-7140dupTATATATATATATATATATATATATATATATA TATAAATA	KCNJ10	ENSG00000177807.10	transcript	ENST00000644903.1	protein_coding	1/1			chr1	TogoVar
KCNJ10_chr1_160032467_160075160	160049671	T T	TTATTTAT others(33): Show TTATTTATATATATATATTTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0185 a0001c0001t0006g0185	1	408	0.0025	40	c.1-7 others(53): Show c.1-7140_1-7139insTATATATATATATATATATATAAATATATATA TATAAATA	KCNJ10	ENSG00000177807.10	transcript	ENST00000644903.1	protein_coding	1/1			chr1	TogoVar
KCNJ10_chr1_160032467_160075160	160049677	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01934.hp1 NA18949.hp2 HG01934.hp1 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0019 a0001c0001t0003 a0001c0001t0019	a0001c0001t0003g0183 a0001c0001t0019g0190 a0001c0001t0003g0183 a0001c0001t0019g0190	2	408	0.0049	40	c.1-7 others(53): Show c.1-7146_1-7145insAATATATATATATATATATATATATATATATA TATATATA	KCNJ10	ENSG00000177807.10	transcript	ENST00000644903.1	protein_coding	1/1			chr1	TogoVar
KCNJ10_chr1_160032467_160075160	160049677	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0221 a0001c0001t0018g0221	1	408	0.0025	40	c.1-7 others(53): Show c.1-7146_1-7145insAAAATATATATATATATATATATATATATATA TATATATA	KCNJ10	ENSG00000177807.10	transcript	ENST00000644903.1	protein_coding	1/1			chr1	TogoVar
KCNJ10_chr1_160032467_160075160	160049679	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA18957.hp2 HG02155.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0121 a0001c0001t0003g0177 a0001c0001t0003g0121 a0001c0001t0003g0177	2	408	0.0049	40	c.1-7 others(53): Show c.1-7148_1-7147insAATATATATATATATATATATATATATATATA TATATATA	KCNJ10	ENSG00000177807.10	transcript	ENST00000644903.1	protein_coding	1/1			chr1	TogoVar
KCNJ10_chr1_160032467_160075160	160049681	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0171 a0001c0001t0003g0171	1	408	0.0025	40	c.1-7 others(53): Show c.1-7150_1-7149insAATATATATATATATATATATATATATATATA TATATATA	KCNJ10	ENSG00000177807.10	transcript	ENST00000644903.1	protein_coding	1/1			chr1	TogoVar
KCNJ10_chr1_160032467_160075160	160049681	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0064 a0001c0001t0003g0064	1	408	0.0025	40	c.1-7 others(53): Show c.1-7150_1-7149insAAAATATATATATATATATATATATATATATA TATATATA	KCNJ10	ENSG00000177807.10	transcript	ENST00000644903.1	protein_coding	1/1			chr1	TogoVar
KCNJ10_chr1_160032467_160075160	160049681	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0220 a0001c0001t0004g0220	1	408	0.0025	40	c.1-7 others(53): Show c.1-7150_1-7149insAAAAAATATATATATATATATATATATATATA TATATATA	KCNJ10	ENSG00000177807.10	transcript	ENST00000644903.1	protein_coding	1/1			chr1	TogoVar
KCNJ15_chr21_38251991_38312357	38256360	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG02083.hp2 HG03130.hp1 others(1): Show HG00408.hp1 HG02083.hp2 HG03130.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0010 a0001c0001t0074 a0001c0003t0005 a0001c0001t0010 a0001c0001t0074 a0001c0003t0005	a0001c0001t0010g0033 a0001c0001t0074g0052 a0001c0003t0005g0209 others(1): Show a0001c0001t0010g0033 a0001c0001t0074g0052 a0001c0003t0005g0209 a0001c0003t0005g0210	4	406	0.0099	40	c.-94 others(49): Show c.-942_-941insTATATATATATATATATATATATATATATATATATA TATA	KCNJ15	ENSG00000157551.19	transcript	ENST00000398938.7	protein_coding		630		chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37616590	C C	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0165 a0001c0001t0165	a0001c0001t0165g0095 a0001c0001t0165g0095	1	198	0.0051	40	c.85 others(51): Show c.8568_*8569insATATATATATATATATATATATATATATATATAT ATATAT	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	4/4	8568		chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37630134	C C	CTGTGTGT others(33): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01243.hp1 HG02970.hp1 HG01106.hp1 HG01243.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063	a0001c0001t0061g0172 a0001c0001t0062g0126 a0001c0001t0063g0149 a0001c0001t0061g0172 a0001c0001t0062g0126 a0001c0001t0063g0149	3	198	0.0152	40	c.947 others(57): Show c.947-4651_947-4650insCACACACACACACACACACACACACACA CACACACACACA	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	3/3			chr21	TogoVar
KCNK13_chr14_90056994_90190853	90143146	A A	ACTTTCTT others(33): Show ACTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0310 a0001c0001t0001g0310	1	320	0.0031	40	c.335 others(59): Show c.335-40933_335-40932insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTT	KCNK13	ENSG00000152315.5	transcript	ENST00000282146.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
KCNK2_chr1_215077737_215242090	215238848	T T	TAAATAAA others(33): Show TAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0147 a0001c0001t0059g0147	1	260	0.0039	40	c.37 others(51): Show c.3703_*3704insAAATAAAATAAAATAAAATAAAATAAAATAAAAT AAAATA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding		1759		chr1	TogoVar
KCNK6_chr19_38314845_38337076	38328878	G G	GAGAAAGA others(33): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01943.hp2 others(10): Show HG01167.hp2 HG01169.hp2 HG01943.hp2 HG01975.hp2 HG02129.hp1 HG02165.hp2 HG02738.hp1 HG03239.hp2 HG03710.hp2 NA18943.hp1 NA18947.hp2 NA18969.hp2 NA18999.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0007 a0002c0002t0055 a0003c0003t0007 others(3): Show a0002c0002t0007 a0002c0002t0055 a0003c0003t0007 a0003c0003t0020 a0003c0003t0028 a0003c0003t0056	a0002c0002t0007g0002 a0002c0002t0055g0002 a0003c0003t0007g0002 others(3): Show a0002c0002t0007g0002 a0002c0002t0055g0002 a0003c0003t0007g0002 a0003c0003t0020g0002 a0003c0003t0028g0002 a0003c0003t0056g0002	13	398	0.0327	40	c.14 others(51): Show c.1497_*1498insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAG	KCNK6	ENSG00000099337.5	transcript	ENST00000263372.5	protein_coding	3/3	1498	INFO_REALIGN_3_PRIME	chr19	TogoVar
KCNK9_chr8_139612121_139708123	139687483	C C	CACATATA others(33): Show CACATATATTCATATATATGTATACACATATATTCATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0296 a0001c0001t0001g0296	1	322	0.0031	40	c.283 others(59): Show c.283+15226_283+15227insATATATGAATATATGTGTATACATAT ATATGAATATATGT	KCNK9	ENSG00000169427.8	transcript	ENST00000520439.3	protein_coding	1/1			chr8	TogoVar
KCNMA1_chr10_76879882_77642808	76941018	G G	GAAGGAAG others(33): Show GAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0051 a0001c0002t0002g0051	1	106	0.0094	40	c.290 others(59): Show c.2902+3754_2902+3755insTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTCCTT	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	23/27			chr10	TogoVar
KCNMA1_chr10_76879882_77642808	76969300	G G	GGGAAGGA others(33): Show GGGAAGGAAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0073 a0001c0002t0001g0073	1	106	0.0094	40	c.236 others(57): Show c.2360+673_2360+674insTTCCTTCCTTCCTTCCTCCCTTCCTTCC TTCCTTCCTTCC	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	20/27			chr10	TogoVar
KCNMA1_chr10_76879882_77642808	76969300	G G	GGGAAGGA others(33): Show GGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	106	0.0094	40	c.236 others(57): Show c.2360+673_2360+674insTTCCTTCCTTCCTTCCTTCCTTCCTCCC TTCCTTCCTTCC	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	20/27			chr10	TogoVar
KCNMA1_chr10_76879882_77642808	77572569	C C	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	106	0.0094	40	c.378 others(59): Show c.378+64695_378+64696insATATATATATATATATATATATATAT ATATATATATATAT	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	1/27			chr10	TogoVar
KCNMB1_chr5_170369671_170394367	170390517	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0013 a0001c0001t0015g0013	1	432	0.0023	40	c.-12 others(51): Show c.-1284_-1283insATATATATATATATATATTTTTTTTTTTTTTTTT TTTTTT	KCNMB1	ENSG00000145936.9	transcript	ENST00000274629.9	protein_coding		1151		chr5	TogoVar
KCNMB1_chr5_170369671_170394367	170390517	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAAAAAAAAAAATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0013 a0001c0001t0015g0013	1	432	0.0023	40	c.-12 others(51): Show c.-1284_-1283insATATATATATATATATATATTTTTTTTTTTTTTT TTTTTT	KCNMB1	ENSG00000145936.9	transcript	ENST00000274629.9	protein_coding		1151		chr5	TogoVar
KCNMB1_chr5_170369671_170394367	170390517	A A	AAAAAAAA others(33): Show AAAAAAAAAATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0003	1	432	0.0023	40	c.-12 others(51): Show c.-1284_-1283insATATATATATATATATATATATATATATATATTT TTTTTT	KCNMB1	ENSG00000145936.9	transcript	ENST00000274629.9	protein_coding		1151		chr5	TogoVar
KCNMB1_chr5_170369671_170394367	170390517	A A	AAAAAATA others(33): Show AAAAAATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0062 a0001c0001t0006g0062	1	432	0.0023	40	c.-12 others(51): Show c.-1284_-1283insATATATATATATATATATATATATATATATATAT ATTTTT	KCNMB1	ENSG00000145936.9	transcript	ENST00000274629.9	protein_coding		1151		chr5	TogoVar
KCNMB2_chr3_178531436_178849429	178758291	G G	GATATATA others(33): Show GATATATATATATATATATATATCTCCAAGGGGATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02698.hp2 HG03225.hp2 HG00738.hp2 HG02698.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0105 a0001c0001t0002g0066 a0001c0001t0002g0077 a0001c0001t0001g0105 a0001c0001t0002g0066 a0001c0001t0002g0077	3	232	0.0129	40	c.-67 others(59): Show c.-67-49038_-67-49037insATATATATCTCCAAGGGGATATATAT ATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758533	T T	TATATCCA others(33): Show TATATCCAAGGGGATATATATATATATATATATCCAAGGGG	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0079 a0001c0002t0001g0079	1	232	0.0043	40	c.-67 others(59): Show c.-67-48806_-67-48805insCCAAGGGGATATATATATATATATAT ATCCAAGGGGATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar

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