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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
KALRN_chr3_124028369_124731325	124495955	GTGTATGT others(23): Show GTGTATGTATGTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0047 a0001c0047	a0001c0047t0009 a0001c0047t0009	a0001c0047t0009g0092 a0001c0047t0009g0092	1	116	0.0086	-30	c.483 others(47): Show c.4833-354_4833-325delGTATGTATGTATATATATATATATATAT AT		KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	32/59					INFO_REALIGN_3_PRIME	chr3	TogoVar
KANSL1L_chr2_210016421_210176409	210069789	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02630.hp1 HG02809.hp1 others(2): Show HG02615.hp1 HG02630.hp1 HG02809.hp1 NA18992.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0014 a0001c0001t0005g0226 a0001c0001t0005g0227 others(2): Show a0001c0001t0003g0014 a0001c0001t0005g0226 a0001c0001t0005g0227 a0001c0001t0005g0228 a0001c0001t0005g0230	5	284	0.0176	-30	c.175 others(49): Show c.1755+5733_1755+5762delAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA		KANSL1L	ENSG00000144445.17	transcript	ENST00000281772.14	protein_coding	6/14						chr2	TogoVar
KANSL1L_chr2_210016421_210176409	210079640	ATATATAT others(23): Show ATATATATATATATATATATATATATGTATG	A A	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0007 a0001c0001t0008g0007	1	284	0.0035	-30	c.155 others(49): Show c.1551-3914_1551-3885delCATACATATATATATATATATATATA TATA		KANSL1L	ENSG00000144445.17	transcript	ENST00000281772.14	protein_coding	5/14						chr2	TogoVar
KANSL1L_chr2_210016421_210176409	210174890	TCTATCCT others(23): Show TCTATCCTATTCTATTCTATTCTATCCTATC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	284	0.0035	-30	c.-38 others(41): Show c.-3801_-3772delGATAGGATAGAATAGAATAGAATAGGATAG		KANSL1L	ENSG00000144445.17	transcript	ENST00000281772.14	protein_coding					3482		chr2	TogoVar
KANSL1L_chr2_210016421_210176409	210174915	CCTATCCT others(23): Show CCTATCCTATTCTATTCTATTCTATTCTATT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG03710.hp2 NA20752.hp2 HG02145.hp2 HG03710.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0029 a0001c0001t0001 a0001c0001t0029	a0001c0001t0001g0207 a0001c0001t0001g0244 a0001c0001t0029g0256 a0001c0001t0001g0207 a0001c0001t0001g0244 a0001c0001t0029g0256	3	284	0.0106	-30	c.-38 others(41): Show c.-3826_-3797delAATAGAATAGAATAGAATAGAATAGGATAG		KANSL1L	ENSG00000144445.17	transcript	ENST00000281772.14	protein_coding					3507		chr2	TogoVar
KANSL1_chr17_46024916_46198429	46058733	ACACACAC others(23): Show ACACACACACACTCTCTCTCTCTCTCTCTCT	A A	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA21309.hp1 NA19081.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0011 a0001c0002t0001 a0001c0001t0011 a0001c0002t0001	a0001c0001t0011g0236 a0001c0002t0001g0010 a0001c0001t0011g0236 a0001c0002t0001g0010	2	321	0.0062	-30	c.184 others(49): Show c.1848+7774_1848+7803delAGAGAGAGAGAGAGAGAGAGTGTGTG TGTG		KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	6/14						chr17	TogoVar
KANSL1_chr17_46024916_46198429	46058737	ACACACAC others(23): Show ACACACACTCTCTCTCTCTCTCTCTCTCTCT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	321	0.0031	-30	c.184 others(49): Show c.1848+7770_1848+7799delAGAGAGAGAGAGAGAGAGAGAGAGTG TGTG		KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	6/14						chr17	TogoVar
KANSL1_chr17_46024916_46198429	46105876	CACACACA others(23): Show CACACACACACACACACAGAGCAAGGCCTTG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0320 a0003c0004t0005g0320	1	321	0.0031	-30	c.129 others(51): Show c.1290-11205_1290-11176delCAAGGCCTTGCTCTGTGTGTGTGT GTGTGT		KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	2/14						chr17	TogoVar
KASH5_chr19_49383249_49422990	49409254	CTGGGCTT others(23): Show CTGGGCTTGGAGATCGAGGCCATTCGACAGG	C C	splice_donor_variant others(3): Show splice_donor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	NA18985.hp2 NA18985.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0083 a0008c0011t0001g0083	1	354	0.0028	-30	c.112 others(41): Show c.1123_1146+6delTTGGAGATCGAGGCCATTCGACAGGTGGGC	p.Leu others(13): Show p.Leu375_Gln382del	KASH5	ENSG00000161609.10	transcript	ENST00000447857.8	protein_coding	14/20	1297/2343	1123/1689	375/562		INFO_REALIGN_3_PRIME	chr19	TogoVar
KAT14_chr20_18132863_18193035	18139646	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTT	G G	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0109 a0001c0002t0001g0109	1	346	0.0029	-30	c.-45 others(49): Show c.-454+1597_-454+1626delGTGTGTGTGTGTGTGTGTGTGTGTGT GTTT		KAT14	ENSG00000149474.15	transcript	ENST00000688188.1	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr20	TogoVar
KAT2B_chr3_20035446_20159404	20106961	GTATATAT others(23): Show GTATATATATATATATATGTATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02965.hp2 HG02976.hp1 HG01109.hp1 HG02965.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0004 a0001c0001t0004 a0001c0002t0004	a0001c0001t0004g0009 a0001c0001t0004g0028 a0001c0002t0004g0042 a0001c0001t0004g0009 a0001c0001t0004g0028 a0001c0002t0004g0042	3	374	0.0080	-30	c.852 others(47): Show c.852-4617_852-4588delGTATATATATATATATATATATATATAT AT		KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	5/17					INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT2B_chr3_20035446_20159404	20106989	ATATATAT others(23): Show ATATATATATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02886.hp2 NA20805.hp2 HG02615.hp1 HG02886.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 a0001c0001 a0001c0004 a0001c0005	a0001c0001t0004 a0001c0004t0001 a0001c0005t0001 a0001c0001t0004 a0001c0004t0001 a0001c0005t0001	a0001c0001t0004g0340 a0001c0004t0001g0194 a0001c0005t0001g0209 a0001c0001t0004g0340 a0001c0004t0001g0194 a0001c0005t0001g0209	3	374	0.0080	-30	c.852 others(47): Show c.852-4605_852-4576delATATATATATATATATATATATATATTT TT		KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	5/17					INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT2B_chr3_20035446_20159404	20106991	ATATATAT others(23): Show ATATATATATATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA20805.hp1 HG02886.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0004 a0002c0003t0003 a0001c0001t0004 a0002c0003t0003	a0001c0001t0004g0201 a0002c0003t0003g0205 a0001c0001t0004g0201 a0002c0003t0003g0205	2	374	0.0054	-30	c.852 others(47): Show c.852-4603_852-4574delATATATATATATATATATATATATTTTT TT		KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	5/17					INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT2B_chr3_20035446_20159404	20106995	ATATATAT others(23): Show ATATATATATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18980.hp1 NA19068.hp2 NA18969.hp1 NA18980.hp1 NA19068.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0354 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0354	3	374	0.0080	-30	c.852 others(47): Show c.852-4599_852-4570delATATATATATATATATATATTTTTTTTT TT		KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	5/17					INFO_REALIGN_3_PRIME	chr3	TogoVar
KATNAL1_chr13_30197630_30312551	30205925	AGTGTGTG others(23): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02970.hp1 NA21309.hp2 HG02970.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0145 a0001c0001t0146 a0001c0001t0145 a0001c0001t0146	a0001c0001t0145g0013 a0001c0001t0146g0018 a0001c0001t0145g0013 a0001c0001t0146g0018	2	386	0.0052	-30	c.25 others(41): Show c.2585_*2614delACACACACACACACACACACACACACACAC		KATNAL1	ENSG00000102781.14	transcript	ENST00000380615.8	protein_coding	11/11				2585		chr13	TogoVar
KATNAL1_chr13_30197630_30312551	30274881	GCACACAC others(23): Show GCACACACATACGCGCGCGCGCGCGCGCACA	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0355 a0001c0001t0053g0356 a0001c0001t0053g0355 a0001c0001t0053g0356	2	386	0.0052	-30	c.323 others(47): Show c.323+5152_323+5181delTGTGCGCGCGCGCGCGCGCGTATGTGTG TG		KATNAL1	ENSG00000102781.14	transcript	ENST00000380615.8	protein_coding	3/10						chr13	TogoVar
KATNIP_chr16_27545144_27785344	27655177	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02145.hp2 HG02451.hp1 others(9): Show HG02055.hp2 HG02145.hp2 HG02451.hp1 HG02486.hp1 HG02615.hp2 HG02886.hp2 HG03041.hp2 HG03195.hp1 HG03225.hp1 HG03516.hp2 HG03540.hp1 NA20129.hp1	a0004 a0008 a0011 others(1): Show a0004 a0008 a0011 a0019	a0004c0007 a0004c0030 a0004c0034 others(4): Show a0004c0007 a0004c0030 a0004c0034 a0008c0016 a0008c0031 a0011c0017 a0019c0032	a0004c0007t0001 a0004c0007t0012 a0004c0030t0005 others(5): Show a0004c0007t0001 a0004c0007t0012 a0004c0030t0005 a0004c0034t0005 a0008c0016t0001 a0008c0031t0001 a0011c0017t0005 a0019c0032t0003	a0004c0007t0001g0074 a0004c0007t0001g0075 a0004c0007t0001g0105 others(9): Show a0004c0007t0001g0074 a0004c0007t0001g0075 a0004c0007t0001g0105 a0004c0007t0012g0106 a0004c0030t0005g0115 a0004c0034t0005g0119 a0008c0016t0001g0076 a0008c0016t0001g0077 a0008c0031t0001g0107 a0011c0017t0005g0150 a0011c0017t0005g0151 a0019c0032t0003g0001	12	152	0.0790	-30	c.540 others(47): Show c.540+6465_540+6494delATATATATATATATATATATATATATAT AT		KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	6/27					INFO_REALIGN_3_PRIME	chr16	TogoVar
KATNIP_chr16_27545144_27785344	27661933	TATATATA others(23): Show TATATATATATATATATATATATACACATAC	T T	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA19043.hp1 HG03471.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0001c0004 a0002c0002	a0001c0004t0001 a0002c0002t0003 a0001c0004t0001 a0002c0002t0003	a0001c0004t0001g0132 a0002c0002t0003g0134 a0001c0004t0001g0132 a0002c0002t0003g0134	2	152	0.0132	-30	c.540 others(49): Show c.540+13278_540+13307delTATACACATACATATATATATATATA TATA		KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	6/27					INFO_REALIGN_3_PRIME	chr16	TogoVar
KAZN_chr1_14593685_15123043	14727450	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0061 a0002c0002t0001g0061	1	146	0.0069	-30	c.226 others(51): Show c.226+128244_226+128273delTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT		KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14918691	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03540.hp2 HG02965.hp2 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0003g0050 a0002c0002t0001g0133 a0001c0001t0003g0050 a0002c0002t0001g0133	2	146	0.0137	-30	c.227 others(49): Show c.227-41991_227-41962delAAAAAAAAAAAAAAAATATATATATA TATA		KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14939626	TTGGGACG others(23): Show TTGGGACGTGCCTCTTGCATAGGGTGGAGTG	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02040.hp1 NA19005.hp1 HG00558.hp2 HG02040.hp1 NA19005.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0011 a0002c0002t0001 a0001c0001t0011 a0002c0002t0001	a0001c0001t0011g0118 a0002c0002t0001g0020 a0002c0002t0001g0071 a0001c0001t0011g0118 a0002c0002t0001g0020 a0002c0002t0001g0071	3	146	0.0206	-30	c.227 others(49): Show c.227-21055_227-21026delGGACGTGCCTCTTGCATAGGGTGGAG TGTG		KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
KBTBD11_chr8_1968677_2011936	2008127	ATCAGTTG others(23): Show ATCAGTTGCACTCAGCCCCCACCCCAGGGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0314 a0001c0001t0004g0314	1	389	0.0026	-30	c.50 others(41): Show c.5064_*5093delTCAGTTGCACTCAGCCCCCACCCCAGGGTG		KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding					1192		chr8	TogoVar
KBTBD11_chr8_1968677_2011936	2009640	CATGCACT others(23): Show CATGCACTCAGCCCCAACCCCAGGGGGTCAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG02080.hp2 HG02148.hp2 HG01978.hp1 HG02080.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0146 a0001c0001t0001g0350 a0001c0001t0003g0156 a0001c0001t0001g0146 a0001c0001t0001g0350 a0001c0001t0003g0156	3	389	0.0077	-30	c.65 others(41): Show c.6577_*6606delATGCACTCAGCCCCAACCCCAGGGGGTCAG		KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding					2705		chr8	TogoVar
KBTBD11_chr8_1968677_2011936	2009718	TCAGGGTA others(23): Show TCAGGGTATCAGCTGCACTCAGCCCCAACCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG02572.hp1 HG02615.hp1 others(1): Show HG01261.hp2 HG02572.hp1 HG02615.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0116 a0001c0001t0014g0117 a0001c0001t0014g0118 others(1): Show a0001c0001t0014g0116 a0001c0001t0014g0117 a0001c0001t0014g0118 a0001c0001t0014g0119	4	389	0.0103	-30	c.66 others(41): Show c.6655_*6684delCAGGGTATCAGCTGCACTCAGCCCCAACCC		KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding					2783		chr8	TogoVar
KCMF1_chr2_84966161_85064472	84993902	TTTTTGTT others(23): Show TTTTTGTTTTGTTTTGTTTTGTTTTGTTTTG	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00621.hp1 HG02129.hp2 others(5): Show HG00597.hp1 HG00621.hp1 HG02129.hp2 HG02135.hp1 HG02155.hp1 NA18983.hp1 NA19064.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0024 a0001c0001t0002g0021 a0001c0001t0002g0022 others(5): Show a0001c0001t0001g0024 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028	8	274	0.0292	-30	c.16+ others(47): Show c.16+22469_16+22498delTGTTTTGTTTTGTTTTGTTTTGTTTTGT TT		KCMF1	ENSG00000176407.18	transcript	ENST00000409785.9	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr2	TogoVar
KCNG2_chr18_79792938_79905100	79864755	CGAGGTCT others(23): Show CGAGGTCTGGGTGCCGAGGTCTGTGTGCTGA	C C	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0202 a0001c0001t0002g0202	1	312	0.0032	-30	c.624 others(45): Show c.624+478_624+507delCGAGGTCTGTGTGCTGAGAGGTCTGGGTGC		KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79864818	GGTCTGGG others(23): Show GGTCTGGGTGCCGAGGTCTGTGTGCTGAGAA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp2 HG00597.hp1 others(48): Show HG00323.hp2 HG00438.hp2 HG00597.hp1 HG01884.hp2 HG01928.hp1 HG01952.hp1 HG01978.hp2 HG02027.hp1 HG02074.hp1 HG02109.hp2 HG02155.hp1 HG02300.hp1 HG02559.hp1 HG02572.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03195.hp2 HG03225.hp1 HG06807.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18947.hp2 NA18950.hp1 NA18957.hp1 NA18966.hp1 NA18979.hp1 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18986.hp1 NA18989.hp2 NA18994.hp2 NA18999.hp2 NA19002.hp2 NA19003.hp2 NA19009.hp1 NA19030.hp1 NA19082.hp1 NA19085.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp2 homoSapiens_chm13v2.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0003 a0001c0009 others(1): Show a0001c0001 a0001c0003 a0001c0009 a0007c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0003t0001 a0001c0009t0001 a0007c0014t0001	a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0052 others(48): Show a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0147 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0177 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0204 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0230 a0001c0001t0001g0260 a0001c0001t0001g0292 a0001c0001t0001g0298 a0001c0001t0001g0300 a0001c0001t0002g0152 a0001c0001t0005g0066 a0001c0001t0006g0165 a0001c0003t0001g0196 a0001c0009t0001g0162 a0007c0014t0001g0045	51	312	0.1635	-30	c.624 others(45): Show c.624+538_624+567delCGAGGTCTGTGTGCTGAGAAGTCTGGGTGC		KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79865296	TGAGGTCT others(23): Show TGAGGTCTGGGTGCTGAGGTCTGGGTGCTGA	T T	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0150 a0001c0003t0001g0150	1	312	0.0032	-30	c.624 others(47): Show c.624+1044_624+1073delGGTGCTGAGGTCTGGGTGCTGAGAGGTC TG		KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79865500	AGTGCTGA others(23): Show AGTGCTGAGAGGTCTGGGTGCTGAGGTCTGT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(96): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00558.hp1 HG00597.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01433.hp1 HG01496.hp1 HG01517.hp1 HG01928.hp2 HG01943.hp2 HG02040.hp1 HG02074.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp2 HG02293.hp2 HG02300.hp2 HG02523.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02735.hp1 HG03017.hp2 HG03453.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18947.hp1 NA18949.hp1 NA18951.hp1 NA18952.hp1 NA18955.hp1 NA18957.hp2 NA18959.hp1 NA18964.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18983.hp2 NA18990.hp2 NA18994.hp1 NA18997.hp1 NA19003.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19056.hp1 NA19065.hp1 NA19067.hp2 NA19080.hp2 NA19089.hp1 NA20805.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0005 a0006	a0001c0001 a0001c0009 a0001c0011 others(4): Show a0001c0001 a0001c0009 a0001c0011 a0003c0006 a0004c0008 a0005c0010 a0006c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0009t0001 a0001c0011t0001 a0003c0006t0001 a0004c0008t0001 a0004c0008t0004 a0005c0010t0001 a0006c0012t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(95): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0068 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0101 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0118 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0143 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0187 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0291 a0001c0001t0001g0299 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0002g0181 a0001c0001t0003g0127 a0001c0001t0003g0129 a0001c0001t0003g0256 a0001c0001t0003g0273 a0001c0001t0008g0125 a0001c0009t0001g0163 a0001c0011t0001g0078 a0003c0006t0001g0004 a0003c0006t0001g0041 a0003c0006t0001g0071 a0003c0006t0001g0201 a0004c0008t0001g0042 a0004c0008t0004g0016 a0005c0010t0001g0262 a0006c0012t0002g0005	99	312	0.3173	-30	c.624 others(47): Show c.624+1239_624+1268delTGTGCTGAGAGGTCTGGGTGCTGAGGTC TG		KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79866359	TGAGGTCT others(23): Show TGAGGTCTGGGTGCTGAGGTCTGGGTGCTGA	T T	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0188 a0002c0002t0001g0188	1	312	0.0032	-30	c.624 others(47): Show c.624+2116_624+2145delGTCTGGGTGCTGAGAGGTCTGGGTGCTG AG		KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79866464	TGAGGTCT others(23): Show TGAGGTCTGGGTGCTGAGGTCTGTGTGCTGA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp1 HG02818.hp1 HG02055.hp2 HG02109.hp1 HG02818.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0082 a0001c0007t0001g0084 a0001c0007t0001g0296 a0001c0007t0001g0082 a0001c0007t0001g0084 a0001c0007t0001g0296	3	312	0.0096	-30	c.624 others(47): Show c.624+2196_624+2225delTGTGCTGAGAGGTCTGGGTGCTGAGGTC TG		KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79866642	TCTGAGAG others(23): Show TCTGAGAGGTCTGGGTGCTGAGGTCTGGGTG	T T	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0281 a0001c0013t0001g0281	1	312	0.0032	-30	c.624 others(47): Show c.624+2373_624+2402delGTCTGGGTGCTGAGAGGTCTGGGTGCTG AG		KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79882753	CCGTGGAG others(23): Show CCGTGGAGCGCGGAGGCCGGGTACACCTGCG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(39): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00673.hp1 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01256.hp1 HG01258.hp2 HG01433.hp1 HG01496.hp1 HG01517.hp1 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02486.hp2 HG02559.hp1 HG02602.hp2 HG02735.hp1 HG02735.hp2 HG03130.hp1 HG03492.hp1 HG03710.hp2 HG03927.hp2 HG06807.hp1 NA18939.hp2 NA18947.hp2 NA18950.hp1 NA18957.hp2 NA18966.hp1 NA18973.hp1 NA18980.hp1 NA18983.hp1 NA18986.hp1 NA18994.hp2 NA19007.hp2 NA19011.hp2 NA20129.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0007 a0004c0008 a0001c0001 a0001c0007 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0007t0001 a0004c0008t0001 a0004c0008t0004	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0010 others(38): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0068 a0001c0001t0001g0110 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0128 a0001c0001t0001g0161 a0001c0001t0001g0169 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0195 a0001c0001t0001g0206 a0001c0001t0001g0215 a0001c0001t0001g0274 a0001c0001t0001g0292 a0001c0001t0001g0300 a0001c0001t0002g0152 a0001c0001t0005g0066 a0001c0001t0008g0125 a0001c0007t0001g0082 a0004c0008t0001g0042 a0004c0008t0004g0016	42	312	0.1346	-30	c.625 others(49): Show c.625-16172_625-16143delCCTGCGCGTGGAGCGCGGAGGCCGGG TACA		KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79882868	CCTGCGCG others(23): Show CCTGCGCGTGGAGCGCGGAGGCCGGGTACAT	C C	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02818.hp2 HG03471.hp2 HG02293.hp1 HG02818.hp2 HG03471.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0009 a0001c0005t0001g0197 a0001c0005t0001g0198 a0001c0005t0001g0009 a0001c0005t0001g0197 a0001c0005t0001g0198	3	312	0.0096	-30	c.625 others(49): Show c.625-16161_625-16132delAGCGCGGAGGCCGGGTACATCTGCGC GTGG		KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNH2_chr7_150939961_150983321	150978901	CACACACA others(23): Show CACACACACACACACACACACACACACACAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG01255.hp1 others(22): Show HG00099.hp1 HG00140.hp1 HG01255.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01993.hp2 HG02155.hp1 HG02280.hp1 HG02572.hp1 HG02886.hp2 HG02896.hp1 HG03041.hp2 HG03471.hp1 HG03540.hp1 HG03942.hp1 HG04115.hp1 HG04199.hp2 HG04204.hp2 NA18945.hp2 NA19003.hp2 NA19011.hp1 NA19068.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0008 a0001c0012	a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 a0001c0003t0001 a0001c0005t0002 a0001c0007t0001 a0001c0008t0001 a0001c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0042 others(21): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0042 a0001c0001t0001g0052 a0001c0001t0001g0142 a0001c0001t0001g0159 a0001c0001t0001g0166 a0001c0002t0001g0025 a0001c0002t0001g0095 a0001c0002t0005g0160 a0001c0002t0005g0161 a0001c0003t0001g0002 a0001c0003t0001g0007 a0001c0003t0001g0017 a0001c0003t0001g0050 a0001c0003t0001g0059 a0001c0003t0001g0069 a0001c0003t0001g0131 a0001c0003t0001g0154 a0001c0005t0002g0089 a0001c0007t0001g0039 a0001c0008t0001g0072 a0001c0008t0001g0091 a0001c0012t0001g0026	25	358	0.0698	-30	c.-10 others(40): Show c.-1018_-989delATGTGTGTGTGTGTGTGTGTGTGTGTGTGT		KCNH2	ENSG00000055118.17	transcript	ENST00000262186.10	protein_coding					581		chr7	TogoVar
KCNH2_chr7_150939961_150983321	150978931	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0238 a0001c0002t0001g0238	1	358	0.0028	-30	c.-10 others(41): Show c.-1048_-1019delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT		KCNH2	ENSG00000055118.17	transcript	ENST00000262186.10	protein_coding					611		chr7	TogoVar
KCNH5_chr14_62694464_63050458	62961988	CAGATGCA others(23): Show CAGATGCAGATGGAGATGCAGATGGAGATGG	C C	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0155 a0001c0001t0008g0155	1	224	0.0045	-30	c.943 others(49): Show c.943-11459_943-11430delCCATCTCCATCTGCATCTCCATCTGC ATCT		KCNH5	ENSG00000140015.20	transcript	ENST00000322893.12	protein_coding	6/10						chr14	TogoVar
KCNH7_chr2_162366407_162843767	162748917	TTCCCTTT others(23): Show TTCCCTTTCCTTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0019 a0003c0004t0001g0019	1	100	0.0100	-30	c.307 others(49): Show c.307+87590_307+87619delGGAAGGAAGGAAGGAAGGAAAGGAAA GGGA		KCNH7	ENSG00000184611.14	transcript	ENST00000332142.10	protein_coding	2/15						chr2	TogoVar
KCNH8_chr3_19143510_19540642	19308650	GTCTCTCT others(23): Show GTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	G G	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	134	0.0075	-30	c.442 others(49): Show c.442+27360_442+27389delTCTCTCTCTCTCTCTCTCTCTCTCTC TCTC		KCNH8	ENSG00000183960.9	transcript	ENST00000328405.7	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNH8_chr3_19143510_19540642	19308691	TCTCTCTC others(23): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCCCC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02293.hp1 HG03942.hp2 HG00140.hp1 HG02293.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0027 a0001c0001t0001g0046 a0001c0004t0001g0103 a0001c0001t0001g0027 a0001c0001t0001g0046 a0001c0004t0001g0103	3	134	0.0224	-30	c.442 others(49): Show c.442+27370_442+27399delTCTCTCTCTCTCTCTCTCTCCCCCTC TCTC		KCNH8	ENSG00000183960.9	transcript	ENST00000328405.7	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNH8_chr3_19143510_19540642	19308707	TCTCTCTC others(23): Show TCTCTCTCTCTCCCCCTCTCTCCCTCTCTCC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG03195.hp2 NA18998.hp1 HG00597.hp2 HG03195.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0034 a0001c0001t0001g0132 a0001c0001t0001g0024 a0001c0001t0001g0034 a0001c0001t0001g0132	3	134	0.0224	-30	c.442 others(49): Show c.442+27386_442+27415delTCTCCCCCTCTCTCCCTCTCTCCCTC TCTC		KCNH8	ENSG00000183960.9	transcript	ENST00000328405.7	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNIP1_chr5_170499020_170741632	170597784	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00609.hp2 others(40): Show HG00140.hp1 HG00280.hp1 HG00609.hp2 HG00642.hp2 HG01071.hp1 HG01074.hp1 HG01175.hp1 HG01256.hp2 HG01258.hp1 HG01496.hp2 HG01952.hp1 HG01981.hp2 HG02074.hp1 HG02109.hp1 HG02293.hp1 HG02523.hp1 HG02602.hp2 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02895.hp2 HG03017.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 NA18941.hp2 NA18971.hp1 NA18981.hp1 NA18985.hp2 NA19056.hp1 NA19056.hp2 NA19066.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0023 a0001c0002t0002	a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0064 others(40): Show a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0073 a0001c0001t0001g0080 a0001c0001t0001g0107 a0001c0001t0001g0137 a0001c0001t0001g0152 a0001c0001t0001g0160 a0001c0001t0001g0178 a0001c0001t0001g0183 a0001c0001t0001g0189 a0001c0001t0001g0197 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0084 a0001c0001t0002g0095 a0001c0001t0002g0115 a0001c0001t0002g0159 a0001c0001t0002g0161 a0001c0001t0002g0165 a0001c0001t0002g0171 a0001c0001t0002g0185 a0001c0001t0002g0191 a0001c0001t0003g0083 a0001c0001t0003g0103 a0001c0001t0003g0157 a0001c0001t0003g0181 a0001c0001t0003g0193 a0001c0001t0003g0207 a0001c0001t0004g0039 a0001c0001t0004g0049 a0001c0001t0007g0026 a0001c0001t0008g0113 a0001c0001t0008g0206 a0001c0001t0010g0018 a0001c0001t0011g0050 a0001c0001t0023g0105 a0001c0002t0002g0079 a0001c0002t0002g0184	43	218	0.1973	-30	c.61+ others(47): Show c.61+93168_61+93197delATATATATATATATATATATATATATAT AT		KCNIP1	ENSG00000182132.15	transcript	ENST00000328939.9	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr5	TogoVar
KCNIP3_chr2_95292347_95391077	95294205	TCTCTCTC others(23): Show TCTCTCTCTCTCTCCCCCCTGTACCCCTCAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0058 a0001c0001t0003g0058	1	298	0.0034	-30	c.-32 others(41): Show c.-3233_-3204delCTCTCTCTCTCTCCCCCCTGTACCCCTCAG		KCNIP3	ENSG00000115041.14	transcript	ENST00000295225.10	protein_coding					3141		chr2	TogoVar
KCNIP3_chr2_95292347_95391077	95381333	CCTCACAC others(23): Show CCTCACACAGGTGCACACCCTCACACAAGTT	C C	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0150 a0001c0001t0004g0150	1	298	0.0034	-30	c.448 others(45): Show c.448-231_448-202delTCACACAGGTGCACACCCTCACACAAGTTC		KCNIP3	ENSG00000115041.14	transcript	ENST00000295225.10	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr2	TogoVar
KCNIP4_chr4_20723606_21953772	20748558	TTTTATAT others(23): Show TTTTATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02056.hp1 HG02257.hp2 others(4): Show HG01106.hp2 HG02056.hp1 HG02257.hp2 HG02622.hp2 HG03239.hp2 HG03540.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0004 a0001c0001t0004 a0001c0002t0004	a0001c0001t0004g0025 a0001c0001t0004g0041 a0001c0001t0004g0043 others(4): Show a0001c0001t0004g0025 a0001c0001t0004g0041 a0001c0001t0004g0043 a0001c0001t0004g0067 a0001c0002t0004g0028 a0001c0002t0004g0048 a0001c0002t0004g0071	7	80	0.0875	-30	c.429 others(47): Show c.429+1074_429+1103delTATATATATATATATATATATATATATA AA		KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	5/8						chr4	TogoVar
KCNIP4_chr4_20723606_21953772	20916985	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02809.hp1 HG02922.hp2 others(3): Show HG01106.hp2 HG02809.hp1 HG02922.hp2 HG03098.hp1 HG03098.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0002t0001 a0001c0002t0004	a0001c0001t0001g0013 a0001c0001t0004g0041 a0001c0001t0005g0072 others(3): Show a0001c0001t0001g0013 a0001c0001t0004g0041 a0001c0001t0005g0072 a0001c0001t0008g0069 a0001c0002t0001g0055 a0001c0002t0004g0028	6	80	0.0750	-30	c.62- others(47): Show c.62-34306_62-34277delTATATATATATATATATATATATATATA TA		KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8						chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21304057	GAGAGAGA others(23): Show GAGAGAGAGAGACAGAGAGAGAGAGAGAGAC	G G	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	80	0.0125	-30	c.62- others(49): Show c.62-421378_62-421349delGTCTCTCTCTCTCTCTCTGTCTCTCT CTCT		KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8						chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21370834	TATATATA others(23): Show TATATATATATATATATACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	80	0.0125	-30	c.62- others(49): Show c.62-488155_62-488126delGTGTGTGTGTGTGTATATATATATAT ATAT		KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8						chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21400512	CCTCTTCT others(23): Show CCTCTTCTCTTCTCTTCTCTTCTCTTCTCTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03579.hp1 HG01243.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0075 a0001c0001t0002g0074 a0001c0001t0001g0075 a0001c0001t0002g0074	2	80	0.0250	-30	c.62- others(49): Show c.62-517833_62-517804delAAGAGAAGAGAAGAGAAGAGAAGAGA AGAG		KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8						chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21432091	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03041.hp2 NA19030.hp1 HG02145.hp1 HG03041.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0006 a0001c0001t0001 a0001c0002t0001 a0001c0002t0006	a0001c0001t0001g0066 a0001c0002t0001g0065 a0001c0002t0006g0019 a0001c0001t0001g0066 a0001c0002t0001g0065 a0001c0002t0006g0019	3	80	0.0375	-30	c.61+ others(49): Show c.61+516450_61+516479delATATATATATATATATATATATATAT ATAT		KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8						chr4	TogoVar

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