Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ITGB1_chr10_32895318_32963230	32895622	AAGTGGAA others(27): Show AAGTGGAACATATATTTGTATATTTGTCCTTTTGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0056 a0001c0003t0001g0056	1	424	0.0024	-34	c.59 others(45): Show c.5914_*5947delACAAAAGGACAAATATACAAATATATGTTCCACT	ITGB1	ENSG00000150093.20	transcript	ENST00000302278.8	protein_coding		4695		chr10	TogoVar
ITGB5_chr3_124756948_124892365	124780092	CGAGGCCT others(27): Show CGAGGCCTCTGAGGCAGGGCACGGGGACCCTCAGG	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02723.hp2 HG03098.hp1 others(2): Show HG02055.hp2 HG02723.hp2 HG03098.hp1 HG03209.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0013 a0001c0001 a0001c0009 a0001c0013	a0001c0001t0014 a0001c0009t0002 a0001c0013t0017 a0001c0001t0014 a0001c0009t0002 a0001c0013t0017	a0001c0001t0014g0310 a0001c0009t0002g0319 a0001c0009t0002g0347 others(2): Show a0001c0001t0014g0310 a0001c0009t0002g0319 a0001c0009t0002g0347 a0001c0009t0002g0348 a0001c0013t0017g0302	5	352	0.0142	-34	c.169 others(53): Show c.1694-6214_1694-6181delCCTGAGGGTCCCCGTGCCCTGCCTCA GAGGCCTC	ITGB5	ENSG00000082781.12	transcript	ENST00000296181.9	protein_coding	10/14			chr3	TogoVar
ITIH1_chr3_52772599_52797062	52781198	TTTTTTTT others(27): Show TTTTTTTTTTTTTCTTCTTCTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0076 a0003c0004t0001g0076	1	406	0.0025	-34	c.688 others(49): Show c.688-739_688-706delTTTTTTTTTTCTTCTTCTTCTTCTTCTTCT TCTT	ITIH1	ENSG00000055957.11	transcript	ENST00000273283.7	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITIH1_chr3_52772599_52797062	52781204	TTTTTTTC others(27): Show TTTTTTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01433.hp2 HG01496.hp1 others(29): Show HG01243.hp2 HG01433.hp2 HG01496.hp1 HG01928.hp1 HG01943.hp1 HG01993.hp2 HG02071.hp1 HG02083.hp1 HG02132.hp2 HG02148.hp2 HG02258.hp1 HG02300.hp2 HG03130.hp2 HG03688.hp1 HG03834.hp1 NA18944.hp1 NA18951.hp2 NA18971.hp2 NA18972.hp2 NA18979.hp2 NA18997.hp1 NA19001.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19065.hp1 NA19087.hp1 NA20129.hp2 NA21309.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0003c0004 others(1): Show a0002c0002 a0003c0003 a0003c0004 a0003c0017	a0002c0002t0001 a0003c0003t0001 a0003c0004t0001 others(1): Show a0002c0002t0001 a0003c0003t0001 a0003c0004t0001 a0003c0017t0001	a0002c0002t0001g0003 a0002c0002t0001g0009 a0002c0002t0001g0020 others(8): Show a0002c0002t0001g0003 a0002c0002t0001g0009 a0002c0002t0001g0020 a0002c0002t0001g0091 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0003c0003t0001g0065 a0003c0003t0001g0197 a0003c0004t0001g0092 a0003c0017t0001g0125	32	406	0.0788	-34	c.688 others(49): Show c.688-733_688-700delTTTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTT	ITIH1	ENSG00000055957.11	transcript	ENST00000273283.7	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITIH5_chr10_7554270_7671966	7556074	ATATATGT others(27): Show ATATATGTATATATATATATATATATGTGTGTGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02615.hp2 HG03471.hp1 HG02559.hp1 HG02615.hp2 HG03471.hp1	a0000 a0000	a0000c0011 a0000c0026 a0000c0011 a0000c0026	a0000c0011t0007 a0000c0011t0030 a0000c0026t0007 a0000c0011t0007 a0000c0011t0030 a0000c0026t0007	a0000c0011t0007g0137 a0000c0011t0030g0013 a0000c0026t0007g0068 a0000c0011t0007g0137 a0000c0011t0030g0013 a0000c0026t0007g0068	3	342	0.0088	-34	c.69 others(45): Show c.6975_*7008delCACACACACATATATATATATATATATACATATA	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding		3195		chr10	TogoVar
ITPR1_chr3_4488348_4852506	4694279	GATTATAA others(27): Show GATTATAAAGTATATATTTATGATATATAAAGTAT	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02055.hp1 HG02109.hp2 others(14): Show HG01081.hp2 HG02055.hp1 HG02109.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp2 HG06807.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(10): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0001c0009 a0001c0027 a0001c0042 a0001c0049 a0001c0050 a0001c0053 a0001c0064 a0001c0068 a0001c0102	a0001c0001t0020 a0001c0002t0001 a0001c0002t0006 others(13): Show a0001c0001t0020 a0001c0002t0001 a0001c0002t0006 a0001c0002t0015 a0001c0004t0001 a0001c0008t0001 a0001c0009t0001 a0001c0009t0009 a0001c0027t0002 a0001c0042t0010 a0001c0049t0001 a0001c0050t0004 a0001c0053t0004 a0001c0064t0004 a0001c0068t0004 a0001c0102t0001	a0001c0001t0020g0123 a0001c0002t0001g0028 a0001c0002t0001g0172 others(14): Show a0001c0001t0020g0123 a0001c0002t0001g0028 a0001c0002t0001g0172 a0001c0002t0006g0075 a0001c0002t0015g0130 a0001c0004t0001g0008 a0001c0008t0001g0020 a0001c0009t0001g0124 a0001c0009t0009g0122 a0001c0027t0002g0171 a0001c0042t0010g0014 a0001c0049t0001g0015 a0001c0050t0004g0134 a0001c0053t0004g0030 a0001c0064t0004g0017 a0001c0068t0004g0174 a0001c0102t0001g0168	17	176	0.0966	-34	c.428 others(51): Show c.4281+585_4281+618delATATTTATGATATATAAAGTATATTATA AAGTAT	ITPR1	ENSG00000150995.21	transcript	ENST00000649015.2	protein_coding	33/61		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITPR2_chr12_26330352_26838194	26567950	TTATATAT others(27): Show TTATATATATATATATATATTATATATATTATATA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03453.hp2 HG02055.hp1 HG03453.hp2	a0001 a0005 a0001 a0005	a0001c0035 a0005c0036 a0001c0035 a0005c0036	a0001c0035t0027 a0005c0036t0015 a0001c0035t0027 a0005c0036t0015	a0001c0035t0027g0026 a0005c0036t0015g0101 a0001c0035t0027g0026 a0005c0036t0015g0101	2	142	0.0141	-34	c.463 others(53): Show c.4631-6032_4631-5999delTATATAATATATATAATATATATATA TATATATA	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	34/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26589801	ATAAATAA others(27): Show ATAAATAAAAAATAAATAAATAAATAAATAAACAT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02630.hp1 HG02896.hp1 others(2): Show HG02109.hp1 HG02630.hp1 HG02896.hp1 HG03130.hp1 HG03540.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0002 a0001c0030 a0003c0038 others(1): Show a0001c0002 a0001c0030 a0003c0038 a0006c0053	a0001c0002t0007 a0001c0002t0036 a0001c0030t0004 others(2): Show a0001c0002t0007 a0001c0002t0036 a0001c0030t0004 a0003c0038t0009 a0006c0053t0038	a0001c0002t0007g0014 a0001c0002t0036g0011 a0001c0030t0004g0009 others(2): Show a0001c0002t0007g0014 a0001c0002t0036g0011 a0001c0030t0004g0009 a0003c0038t0009g0012 a0006c0053t0038g0075	5	142	0.0352	-34	c.438 others(53): Show c.4380+5630_4380+5663delATGTTTATTTATTTATTTATTTATTT TTTATTTA	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	32/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26782013	TATATATA others(27): Show TATATATATATATATATATATGTATAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0043 a0001c0043	a0001c0043t0054 a0001c0043t0054	a0001c0043t0054g0140 a0001c0043t0054g0140	1	142	0.0070	-34	c.163 others(51): Show c.163+8110_163+8143delCTCTCTCTCTATACATATATATATATAT ATATAT	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26782015	TATATATA others(27): Show TATATATATATATATATATGTATAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01081.hp2 HG01981.hp2 others(6): Show HG00741.hp1 HG01081.hp2 HG01981.hp2 HG02523.hp1 HG02630.hp1 HG03704.hp1 HG03834.hp1 NA18964.hp1 NA18970.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(3): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0022 a0001c0045	a0001c0002t0007 a0001c0003t0001 a0001c0003t0014 others(5): Show a0001c0002t0007 a0001c0003t0001 a0001c0003t0014 a0001c0003t0023 a0001c0004t0048 a0001c0005t0005 a0001c0022t0002 a0001c0045t0001	a0001c0002t0007g0014 a0001c0003t0001g0037 a0001c0003t0001g0061 others(6): Show a0001c0002t0007g0014 a0001c0003t0001g0037 a0001c0003t0001g0061 a0001c0003t0014g0099 a0001c0003t0023g0135 a0001c0004t0048g0115 a0001c0005t0005g0086 a0001c0022t0002g0004 a0001c0045t0001g0098	9	142	0.0634	-34	c.163 others(51): Show c.163+8108_163+8141delCTCTCTCTCTCTATACATATATATATAT ATATAT	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26782017	TATATATA others(27): Show TATATATATATATATATGTATAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01496.hp1 HG01433.hp1 HG01496.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0014 a0001c0005t0031 a0001c0003t0014 a0001c0005t0031	a0001c0003t0014g0038 a0001c0005t0031g0104 a0001c0003t0014g0038 a0001c0005t0031g0104	2	142	0.0141	-34	c.163 others(51): Show c.163+8106_163+8139delCTCTCTCTCTCTCTATACATATATATAT ATATAT	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26782019	TATATATA others(27): Show TATATATATATATATGTATAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02040.hp2 HG02004.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0040 a0001c0001 a0001c0040	a0001c0001t0052 a0001c0040t0005 a0001c0001t0052 a0001c0040t0005	a0001c0001t0052g0134 a0001c0040t0005g0019 a0001c0001t0052g0134 a0001c0040t0005g0019	2	142	0.0141	-34	c.163 others(51): Show c.163+8104_163+8137delCTCTCTCTCTCTCTCTATACATATATAT ATATAT	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26782021	TATATATA others(27): Show TATATATATATATGTATAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0011 a0011	a0011c0067 a0011c0067	a0011c0067t0003 a0011c0067t0003	a0011c0067t0003g0007 a0011c0067t0003g0007	1	142	0.0070	-34	c.163 others(51): Show c.163+8102_163+8135delCTCTCTCTCTCTCTCTCTATACATATAT ATATAT	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56			chr12	TogoVar
ITPRID1_chr7_31509090_31661504	31599633	CTTTCTTT others(27): Show CTTTCTTTCTTTCTTTTTCTTTCTTTCCTTTCTCT	C C	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0014 a0014	a0014c0024 a0014c0024	a0014c0024t0009 a0014c0024t0009	a0014c0024t0009g0137 a0014c0024t0009g0137	1	312	0.0032	-34	c.122 others(55): Show c.1228+16443_1228+16476delTTTCTTTCTTTCTTTTTCTTTCTT TCCTTTCTCT	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	10/14			chr7	TogoVar
ITSN1_chr21_33637501_33904861	33690781	ATATATAT others(27): Show ATATATATACATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG04184.hp2 NA19010.hp1 others(1): Show HG01358.hp1 HG04184.hp2 NA19010.hp1 NA19084.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0005 a0007c0015 a0001c0001 a0001c0005 a0007c0015	a0001c0001t0001 a0001c0001t0003 a0001c0005t0003 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0005t0003 a0007c0015t0005	a0001c0001t0001g0056 a0001c0001t0003g0049 a0001c0005t0003g0050 others(1): Show a0001c0001t0001g0056 a0001c0001t0003g0049 a0001c0005t0003g0050 a0007c0015t0005g0101	4	242	0.0165	-34	c.-32 others(53): Show c.-32-28007_-32-27974delCATATATATATATATATATATATATG TATATATA	ITSN1	ENSG00000205726.15	transcript	ENST00000381318.8	protein_coding	1/39		INFO_REALIGN_3_PRIME	chr21	TogoVar
ITSN1_chr21_33637501_33904861	33876117	CTTTCTTT others(27): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0167 a0001c0001t0020g0167	1	242	0.0041	-34	c.434 others(51): Show c.4341+598_4341+631delTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTT	ITSN1	ENSG00000205726.15	transcript	ENST00000381318.8	protein_coding	34/39		INFO_REALIGN_3_PRIME	chr21	TogoVar
IZUMO1_chr19_48735852_48751909	48751756	AGCCTGAC others(27): Show AGCCTGACCAACGTGGAGAAACCCTGTCTCTACTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	-34	c.-54 others(45): Show c.-5429_-5396delAAGTAGAGACAGGGTTTCTCCACGTTGGTCAGGC	IZUMO1	ENSG00000182264.9	transcript	ENST00000332955.7	protein_coding		4848		chr19	TogoVar
JADE1_chr4_128804700_128880224	128815120	GCTCCCTG others(27): Show GCTCCCTGTAAGCTCCGCCTCCCTGTAAGCTCCGC	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02109.hp1 HG02109.hp2 others(11): Show HG00735.hp2 HG02109.hp1 HG02109.hp2 HG02257.hp1 HG02280.hp2 HG02717.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp2 HG03516.hp1 NA19030.hp1 NA19043.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0011 a0002c0002t0024 others(1): Show a0002c0002t0005 a0002c0002t0011 a0002c0002t0024 a0002c0002t0025	a0002c0002t0005g0003 a0002c0002t0005g0036 a0002c0002t0005g0037 others(8): Show a0002c0002t0005g0003 a0002c0002t0005g0036 a0002c0002t0005g0037 a0002c0002t0005g0040 a0002c0002t0005g0042 a0002c0002t0005g0043 a0002c0002t0011g0039 a0002c0002t0011g0041 a0002c0002t0011g0044 a0002c0002t0024g0122 a0002c0002t0025g0038	14	278	0.0504	-34	c.-27 others(51): Show c.-27+5281_-27+5314delCCTGTAAGCTCCGCCTCCCTGTAAGCTC CGCCTC	JADE1	ENSG00000077684.16	transcript	ENST00000226319.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
JAK1_chr1_64828229_64971549	64878559	GTGTATAT others(27): Show GTGTATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0323 a0001c0007t0001g0323	1	326	0.0031	-34	c.329 others(49): Show c.329+432_329+465delTATATATATATATATATATATATATATATA TACA	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	4/24			chr1	TogoVar
JAKMIP1_chr4_6021199_6205549	6037118	TCCCTCCA others(27): Show TCCCTCCATCACTGAGTCAGAGGTTAACCCAGTAG	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01167.hp1 HG02109.hp2 others(22): Show HG00280.hp2 HG01167.hp1 HG02109.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02622.hp1 HG02622.hp2 HG02717.hp2 HG02895.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03195.hp2 HG03225.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA19043.hp2 NA19240.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 others(22): Show a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0142 a0001c0001t0001g0153 a0001c0001t0001g0164 a0001c0001t0001g0168 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0213 a0001c0001t0002g0228 a0001c0001t0003g0216 a0001c0002t0001g0165	25	233	0.1073	-34	c.217 others(53): Show c.2176-1045_2176-1012delCTACTGGGTTAACCTCTGACTCAGTG ATGGAGGG	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	18/20			chr4	TogoVar
JAKMIP1_chr4_6021199_6205549	6037379	ACCAGTAT others(27): Show ACCAGTATCCCTCCATCACCGAGGCAGAGGTTAAC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01167.hp1 HG02109.hp2 others(22): Show HG00280.hp2 HG01167.hp1 HG02109.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02622.hp1 HG02622.hp2 HG02717.hp2 HG02895.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03195.hp2 HG03225.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA19043.hp2 NA19240.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 others(22): Show a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0142 a0001c0001t0001g0153 a0001c0001t0001g0164 a0001c0001t0001g0168 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0213 a0001c0001t0002g0228 a0001c0001t0003g0216 a0001c0002t0001g0165	25	233	0.1073	-34	c.217 others(53): Show c.2176-1306_2176-1273delGTTAACCTCTGCCTCGGTGATGGAGG GATACTGG	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	18/20			chr4	TogoVar
JAKMIP1_chr4_6021199_6205549	6037386	TCCCTCCA others(27): Show TCCCTCCATCACCGAGGCAGAGGTTAACCCAGTAG	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02818.hp1 HG03486.hp1 others(2): Show HG02055.hp1 HG02818.hp1 HG03486.hp1 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0003t0001 a0001c0001t0001 a0001c0001t0004 a0001c0003t0001	a0001c0001t0001g0011 a0001c0001t0001g0178 a0001c0001t0001g0222 others(2): Show a0001c0001t0001g0011 a0001c0001t0001g0178 a0001c0001t0001g0222 a0001c0001t0004g0224 a0001c0003t0001g0152	5	233	0.0215	-34	c.217 others(53): Show c.2176-1313_2176-1280delCTACTGGGTTAACCTCTGCCTCGGTG ATGGAGGG	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	18/20			chr4	TogoVar
JAKMIP1_chr4_6021199_6205549	6038303	CGAGGCAG others(27): Show CGAGGCAGAGGTTAACCCAGTAGCCCTCCATCACT	C C	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	233	0.0043	-34	c.217 others(53): Show c.2176-2230_2176-2197delAGTGATGGAGGGCTACTGGGTTAACC TCTGCCTC	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	18/20			chr4	TogoVar
JAKMIP1_chr4_6021199_6205549	6098668	GAGAGAAA others(27): Show GAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0216 a0001c0001t0003g0216	1	233	0.0043	-34	c.624 others(51): Show c.624+6771_624+6804delTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTCT	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	3/20			chr4	TogoVar
JAKMIP1_chr4_6021199_6205549	6098688	GAAAGAAA others(27): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02293.hp1 HG02559.hp2 HG01257.hp2 HG02293.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0214 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0214	3	233	0.0129	-34	c.624 others(51): Show c.624+6751_624+6784delTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTT	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	3/20			chr4	TogoVar
JAKMIP1_chr4_6021199_6205549	6098705	AAAGAAAG others(27): Show AAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAGAAG	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 NA19012.hp2 HG02896.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0192 a0001c0001t0001g0083 a0001c0001t0001g0192	2	233	0.0086	-34	c.624 others(51): Show c.624+6734_624+6767delCTTCTCTTTCTTTCTTTTTCTTTCTTTC TTTCTT	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	3/20			chr4	TogoVar
JAKMIP2_chr5_147580438_147787728	147597957	ACCTCTGG others(27): Show ACCTCTGGCTTCCTTGGTTCTTGGGTCTTCTTATT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02717.hp1 HG02976.hp1 others(1): Show HG02486.hp1 HG02717.hp1 HG02976.hp1 HG03225.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0017 a0001c0005t0004 a0001c0005t0017	a0001c0005t0004g0045 a0001c0005t0017g0188 a0001c0005t0017g0189 others(1): Show a0001c0005t0004g0045 a0001c0005t0017g0188 a0001c0005t0017g0189 a0001c0005t0017g0190	4	250	0.0160	-34	c.20 others(51): Show c.20+3750_*20+3783delAATAAGAAGACCCAAGAACCAAGGAAGC CAGAGG	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	21/21			chr5	TogoVar
JAKMIP3_chr10_132060946_132189858	132180674	TGCGCGCG others(27): Show TGCGCGCGCGTGTGTGTGCGTGCGTGTGTGTGTGC	T T	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0003 a0003	a0003c0038 a0003c0038	a0003c0038t0001 a0003c0038t0001	a0003c0038t0001g0024 a0003c0038t0001g0024	1	158	0.0063	-34	c.11 others(55): Show c.1104-1679_*1104-1646delCGCGCGTGTGTGTGCGTGCGTGTG TGTGTGCGCG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132180678	CGCGCGTG others(27): Show CGCGCGTGTGTGTGCGTGCGTGTGTGTGTGCGCGT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0014 a0002c0016t0014	a0002c0016t0014g0143 a0002c0016t0014g0144 a0002c0016t0014g0143 a0002c0016t0014g0144	2	158	0.0127	-34	c.11 others(55): Show c.1104-1677_*1104-1644delCGCGTGTGTGTGCGTGCGTGTGTG TGTGCGCGTG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAM3_chr11_134064072_134157001	134094149	TGTCACTT others(27): Show TGTCACTTCCTGAGGGAAACTTCTCCTGAACCCTC	T T	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00733.hp2 HG00735.hp2 others(38): Show HG00673.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG01109.hp2 HG01123.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01928.hp1 HG01934.hp1 HG01975.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02129.hp1 HG02148.hp1 HG02293.hp1 HG02300.hp1 HG03017.hp1 HG03669.hp1 HG06807.hp1 NA18939.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18952.hp1 NA18953.hp2 NA18957.hp2 NA18960.hp2 NA18973.hp1 NA18982.hp1 NA18993.hp2 NA19000.hp1 NA19005.hp2 NA19009.hp1 NA19063.hp1 NA19065.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0035 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0035 a0001c0001t0048	a0001c0001t0002g0001 a0001c0001t0002g0033 a0001c0001t0004g0003 others(31): Show a0001c0001t0002g0001 a0001c0001t0002g0033 a0001c0001t0004g0003 a0001c0001t0004g0007 a0001c0001t0004g0008 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0026 a0001c0001t0004g0027 a0001c0001t0004g0028 a0001c0001t0004g0029 a0001c0001t0004g0030 a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0004g0034 a0001c0001t0004g0035 a0001c0001t0004g0036 a0001c0001t0004g0037 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0040 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0043 a0001c0001t0004g0044 a0001c0001t0004g0045 a0001c0001t0004g0047 a0001c0001t0004g0049 a0001c0001t0004g0051 a0001c0001t0035g0048 a0001c0001t0048g0050	41	390	0.1051	-34	c.76+ others(51): Show c.76+24991_76+25024delGTCACTTCCTGAGGGAAACTTCTCCTGA ACCCTC	JAM3	ENSG00000166086.13	transcript	ENST00000299106.9	protein_coding	1/8			chr11	TogoVar
JAZF1_chr7_27825577_28185795	27851894	TGTTCTGA others(27): Show TGTTCTGAGTTATGGACCCACACTGATGCCTGGGG	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02965.hp2 others(2): Show HG02895.hp1 HG02897.hp2 HG02965.hp2 HG03486.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0107 a0001c0001t0002g0009 a0001c0001t0002g0024 others(2): Show a0001c0001t0001g0107 a0001c0001t0002g0009 a0001c0001t0002g0024 a0001c0001t0004g0100 a0001c0001t0004g0142	5	206	0.0243	-34	c.386 others(53): Show c.386-11061_386-11028delCCCCAGGCATCAGTGTGGGTCCATAA CTCAGAAC	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	3/4			chr7	TogoVar
JPH2_chr20_44101590_44192188	44132347	GACAGACA others(27): Show GACAGACAGACACACACACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0310 a0001c0001t0005g0310	1	338	0.0030	-34	c.117 others(55): Show c.1170-13758_1170-13725delGTGTGTGTGTGTGTGTGTGTGTGT GTCTGTCTGT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH2_chr20_44101590_44192188	44134050	ATATATTT others(27): Show ATATATTTATTATAAATATATAAATATATATTTAT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA19009.hp2 HG00438.hp1 NA19009.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0005 a0001c0006 a0002c0005	a0001c0006t0087 a0002c0005t0010 a0001c0006t0087 a0002c0005t0010	a0001c0006t0087g0222 a0002c0005t0010g0012 a0001c0006t0087g0222 a0002c0005t0010g0012	2	338	0.0059	-34	c.117 others(55): Show c.1170-15461_1170-15428delATAAATATATATTTATATATTTAT AATAAATATA	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
KALRN_chr3_124028369_124731325	124287770	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0066 a0001c0066	a0001c0066t0001 a0001c0066t0001	a0001c0066t0001g0055 a0001c0066t0001g0055	1	116	0.0086	-34	c.970 others(53): Show c.970-10998_970-10965delATATATATATATATATATATATATAT ATATATAT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	5/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KANSL1L_chr2_210016421_210176409	210069789	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01496.hp1 HG01884.hp2 others(3): Show HG01109.hp2 HG01496.hp1 HG01884.hp2 HG02055.hp2 HG03225.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0021 a0001c0001t0001 a0001c0001t0007 a0001c0001t0021	a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0222 others(3): Show a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0222 a0001c0001t0007g0274 a0001c0001t0007g0275 a0001c0001t0021g0023	6	284	0.0211	-34	c.175 others(53): Show c.1755+5729_1755+5762delAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	KANSL1L	ENSG00000144445.17	transcript	ENST00000281772.14	protein_coding	6/14			chr2	TogoVar
KANSL1L_chr2_210016421_210176409	210079636	ATATATAT others(27): Show ATATATATATATATATATATATATATATATGTATG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00609.hp1 others(74): Show HG00140.hp2 HG00408.hp2 HG00609.hp1 HG00673.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01081.hp2 HG01109.hp2 HG01175.hp2 HG01192.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01496.hp1 HG01517.hp2 HG01891.hp1 HG01928.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp1 HG02074.hp2 HG02080.hp1 HG02132.hp1 HG02165.hp2 HG02293.hp2 HG02523.hp2 HG02602.hp1 HG02735.hp2 HG03041.hp1 HG03471.hp1 HG03486.hp1 HG03710.hp1 HG03927.hp1 HG04204.hp1 NA18939.hp1 NA18942.hp1 NA18943.hp2 NA18945.hp1 NA18946.hp2 NA18950.hp1 NA18954.hp2 NA18957.hp1 NA18960.hp1 NA18964.hp2 NA18967.hp1 NA18968.hp1 NA18969.hp2 NA18971.hp1 NA18974.hp2 NA18975.hp1 NA18978.hp1 NA18979.hp1 NA18983.hp2 NA18984.hp1 NA18990.hp2 NA18992.hp2 NA18995.hp1 NA19000.hp1 NA19002.hp2 NA19054.hp1 NA19056.hp2 NA19066.hp1 NA19070.hp1 NA19072.hp1 NA19074.hp2 NA19082.hp2 NA19087.hp1 NA19088.hp1 NA19240.hp1 NA20752.hp1 NA20805.hp1 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0008 a0005c0009 a0001c0001 a0001c0008 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0027 a0001c0001t0028 a0001c0008t0001 a0005c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0037 a0001c0001t0001g0038 others(73): Show a0001c0001t0001g0001 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0052 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0186 a0001c0001t0001g0214 a0001c0001t0001g0219 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0250 a0001c0001t0002g0049 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0004g0259 a0001c0001t0004g0262 a0001c0001t0004g0263 a0001c0001t0004g0264 a0001c0001t0007g0270 a0001c0001t0008g0006 a0001c0001t0012g0251 a0001c0001t0012g0252 a0001c0001t0014g0271 a0001c0001t0014g0272 a0001c0001t0014g0273 a0001c0001t0016g0276 a0001c0001t0027g0201 a0001c0001t0028g0254 a0001c0008t0001g0110 a0005c0009t0001g0126	77	284	0.2711	-34	c.155 others(53): Show c.1551-3914_1551-3881delCATACATATATATATATATATATATA TATATATA	KANSL1L	ENSG00000144445.17	transcript	ENST00000281772.14	protein_coding	5/14			chr2	TogoVar
KANSL1_chr17_46024916_46198429	46105872	CACACACA others(27): Show CACACACACACACACACACACAGAGCAAGGCCTTG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01167.hp2 HG01255.hp2 others(3): Show HG00140.hp1 HG01167.hp2 HG01255.hp2 HG03239.hp1 HG03704.hp1 NA19085.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0024 a0003c0004t0005 a0003c0004t0024	a0003c0004t0005g0301 a0003c0004t0005g0308 a0003c0004t0005g0311 others(3): Show a0003c0004t0005g0301 a0003c0004t0005g0308 a0003c0004t0005g0311 a0003c0004t0005g0313 a0003c0004t0005g0314 a0003c0004t0024g0300	6	321	0.0187	-34	c.129 others(55): Show c.1290-11205_1290-11172delCAAGGCCTTGCTCTGTGTGTGTGT GTGTGTGTGT	KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	2/14			chr17	TogoVar
KAT2B_chr3_20035446_20159404	20106961	GTATATAT others(27): Show GTATATATATATATATATGTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0225 a0001c0001t0004g0225	1	374	0.0027	-34	c.852 others(51): Show c.852-4617_852-4584delGTATATATATATATATATATATATATAT ATATAT	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT2B_chr3_20035446_20159404	20106985	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA19240.hp2 HG02145.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0128 a0001c0001t0001g0022 a0001c0001t0001g0128	2	374	0.0054	-34	c.852 others(51): Show c.852-4609_852-4576delATATATATATATATATATATATATATAT ATTTTT	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT2B_chr3_20035446_20159404	20106987	ATATATAT others(27): Show ATATATATATATATATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01168.hp1 HG02896.hp1 others(1): Show HG01081.hp2 HG01168.hp1 HG02896.hp1 NA18941.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0002c0003t0003	a0001c0001t0001g0371 a0001c0002t0001g0367 a0001c0005t0001g0315 others(1): Show a0001c0001t0001g0371 a0001c0002t0001g0367 a0001c0005t0001g0315 a0002c0003t0003g0091	4	374	0.0107	-34	c.852 others(51): Show c.852-4607_852-4574delATATATATATATATATATATATATATAT TTTTTT	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT2B_chr3_20035446_20159404	20106989	ATATATAT others(27): Show ATATATATATATATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0275 a0002c0003t0003g0275	1	374	0.0027	-34	c.852 others(51): Show c.852-4605_852-4572delATATATATATATATATATATATATATTT TTTTTT	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT2B_chr3_20035446_20159404	20106993	ATATATAT others(27): Show ATATATATATATATATATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0025 a0001c0002t0004g0025	1	374	0.0027	-34	c.852 others(51): Show c.852-4601_852-4568delATATATATATATATATATATATTTTTTT TTTTTT	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KATNIP_chr16_27545144_27785344	27661993	CATATATA others(27): Show CATATATATATATATATATATATACACATACATAT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02809.hp2 HG02896.hp2 HG02647.hp1 HG02809.hp2 HG02896.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0069 a0001c0004t0002g0070 a0001c0004t0002g0073 a0001c0004t0002g0069 a0001c0004t0002g0070 a0001c0004t0002g0073	3	152	0.0197	-34	c.540 others(53): Show c.540+13274_540+13307delTATATATACACATACATATATATATA TATATATA	KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	6/27		INFO_REALIGN_3_PRIME	chr16	TogoVar
KCNB2_chr8_72532225_72943349	72561728	TCTATATC others(27): Show TCTATATCTATATATATATGTATATATATATATGG	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02258.hp1 HG03834.hp2 others(3): Show HG02055.hp1 HG02258.hp1 HG03834.hp2 NA19030.hp1 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0002t0004	a0001c0001t0001g0021 a0001c0001t0004g0040 a0001c0001t0004g0043 others(3): Show a0001c0001t0001g0021 a0001c0001t0004g0040 a0001c0001t0004g0043 a0001c0001t0005g0054 a0001c0001t0005g0055 a0001c0002t0004g0041	6	164	0.0366	-34	c.-93 others(51): Show c.-93-5913_-93-5880delCTATATCTATATATATATGTATATATAT ATATGG	KCNB2	ENSG00000182674.6	transcript	ENST00000523207.2	protein_coding	1/2			chr8	TogoVar
KCND2_chr7_120268175_120755337	120295359	CACACACA others(27): Show CACACACACACACACACACACACACACACACACAG	C C	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0039 a0001c0001t0007g0039	1	80	0.0125	-34	c.111 others(55): Show c.1115+19630_1115+19663delCACACACACACACACAGACACACA CACACACACA	KCND2	ENSG00000184408.10	transcript	ENST00000331113.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr7	TogoVar
KCND2_chr7_120268175_120755337	120351380	ACACACAC others(27): Show ACACACACACACACACACACACACACACACACACT	A A	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0010 a0001c0001t0005g0010	1	80	0.0125	-34	c.111 others(55): Show c.1115+75635_1115+75668delACACACACACACACACACACACAC ACACACACTC	KCND2	ENSG00000184408.10	transcript	ENST00000331113.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr7	TogoVar
KCNE3_chr11_74449841_74472549	74468521	CTACAAGG others(27): Show CTACAAGGTGGGTATATTGTATATTGTATACAATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG02886.hp1 HG01074.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0011 a0001c0001t0009 a0001c0001t0011	a0001c0001t0009g0210 a0001c0001t0011g0209 a0001c0001t0009g0210 a0001c0001t0011g0209	2	446	0.0045	-34	c.-13 others(45): Show c.-1347_-1314delTATTGTATACAATATACAATATACCCACCTTGTA	KCNE3	ENSG00000175538.11	transcript	ENST00000310128.9	protein_coding		973		chr11	TogoVar
KCNG1_chr20_50998656_51028107	51005979	GCCCCACT others(27): Show GCCCCACTAAGTAGCTCCAGCAGTGTCAGTGGGCC	G G	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0208 a0001c0002t0004g0208	1	424	0.0024	-34	c.775 others(51): Show c.775-1207_775-1174delGGCCCACTGACACTGCTGGAGCTACTTA GTGGGG	KCNG1	ENSG00000026559.14	transcript	ENST00000371571.5	protein_coding	2/2			chr20	TogoVar
KCNH2_chr7_150939961_150983321	150978888	CCCAACAC others(27): Show CCCAACACACACACACACACACACACACACACACA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	358	0.0028	-34	c.-10 others(44): Show c.-1009_-976delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTGG	KCNH2	ENSG00000055118.17	transcript	ENST00000262186.10	protein_coding		568		chr7	TogoVar
KCNH2_chr7_150939961_150983321	150978897	CACACACA others(27): Show CACACACACACACACACACACACACACACACACAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG01071.hp2 HG01175.hp1 others(13): Show HG00558.hp1 HG01071.hp2 HG01175.hp1 HG01243.hp2 HG01361.hp1 HG01952.hp2 HG01975.hp2 HG02257.hp2 HG02647.hp2 HG03098.hp2 HG04184.hp2 HG04204.hp1 NA18612.hp1 NA18747.hp2 NA18906.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007	a0001c0001t0001 a0001c0002t0001 a0001c0002t0006 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0006 a0001c0003t0001 a0001c0006t0001 a0001c0007t0001	a0001c0001t0001g0022 a0001c0001t0001g0046 a0001c0001t0001g0096 others(13): Show a0001c0001t0001g0022 a0001c0001t0001g0046 a0001c0001t0001g0096 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0002t0001g0076 a0001c0002t0001g0128 a0001c0002t0006g0034 a0001c0003t0001g0002 a0001c0003t0001g0015 a0001c0003t0001g0040 a0001c0003t0001g0056 a0001c0003t0001g0058 a0001c0003t0001g0061 a0001c0006t0001g0082 a0001c0007t0001g0067	16	358	0.0447	-34	c.-10 others(44): Show c.-1018_-985delATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	KCNH2	ENSG00000055118.17	transcript	ENST00000262186.10	protein_coding		577		chr7	TogoVar

Search by Variant

Search

Search Results (Total: 3456 hits)