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
IREB2_chr15_78433216_78506453	78434342	G G	GCATGTGT others(37): Show GCATGTGTGCGCGTGCGCGCGCGCGCACACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp2 NA18980.hp1 NA18968.hp2 NA18980.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0139 a0001c0002t0004g0143 a0001c0002t0004g0139 a0001c0002t0004g0143	2	420	0.0048	44	c.-39 others(55): Show c.-3996_-3995insCATGTGTGCGCGTGCGCGCGCGCGCACACACACA CACACACACA	IREB2	ENSG00000136381.13	transcript	ENST00000258886.13	protein_coding		3873		chr15	TogoVar
IREB2_chr15_78433216_78506453	78434342	G G	GCATGTGT others(37): Show GCATGTGTGCGCGTGCGCGCGCGCGCGCACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 NA18944.hp1 NA18949.hp1 others(2): Show HG01891.hp2 NA18944.hp1 NA18949.hp1 NA18990.hp1 NA19066.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0029 a0001c0002t0004 a0001c0002t0029	a0001c0002t0004g0013 a0001c0002t0004g0014 a0001c0002t0004g0016 others(2): Show a0001c0002t0004g0013 a0001c0002t0004g0014 a0001c0002t0004g0016 a0001c0002t0004g0142 a0001c0002t0029g0140	5	420	0.0119	44	c.-39 others(55): Show c.-3996_-3995insCATGTGTGCGCGTGCGCGCGCGCGCGCACACACA CACACACACA	IREB2	ENSG00000136381.13	transcript	ENST00000258886.13	protein_coding		3873		chr15	TogoVar
IREB2_chr15_78433216_78506453	78434342	G G	GCATGTGT others(37): Show GCATGTGTGCGCGTGCGCGCGCGCGCGCGCGCACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 NA19054.hp1 HG02895.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0020 a0001c0001t0007 a0001c0001t0020	a0001c0001t0007g0340 a0001c0001t0020g0124 a0001c0001t0007g0340 a0001c0001t0020g0124	2	420	0.0048	44	c.-39 others(55): Show c.-3996_-3995insCATGTGTGCGCGTGCGCGCGCGCGCGCGCGCACA CACACACACA	IREB2	ENSG00000136381.13	transcript	ENST00000258886.13	protein_coding		3873		chr15	TogoVar
IREB2_chr15_78433216_78506453	78434342	G G	GCATGTGT others(37): Show GCATGTGTGCGCGTGCGCGCGCGCGCGCGCGCGCACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0009 a0003c0005t0009	a0003c0005t0009g0183 a0003c0005t0009g0183	1	420	0.0024	44	c.-39 others(55): Show c.-3996_-3995insCATGTGTGCGCGTGCGCGCGCGCGCGCGCGCGCA CACACACACA	IREB2	ENSG00000136381.13	transcript	ENST00000258886.13	protein_coding		3873		chr15	TogoVar
IREB2_chr15_78433216_78506453	78434342	G G	GCATGTGT others(37): Show GCATGTGTGCGCGTGCGCGCGCGCGCGCGCGCGCGCACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0009 a0003c0005t0009	a0003c0005t0009g0180 a0003c0005t0009g0180	1	420	0.0024	44	c.-39 others(55): Show c.-3996_-3995insCATGTGTGCGCGTGCGCGCGCGCGCGCGCGCGCG CACACACACA	IREB2	ENSG00000136381.13	transcript	ENST00000258886.13	protein_coding		3873		chr15	TogoVar
IREB2_chr15_78433216_78506453	78434342	G G	GCATGTGT others(37): Show GCATGTGTGCGCGTGCGCGCGCGCGCGCGCGCGCGCGCGCACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp2 NA18972.hp2 NA18975.hp1 NA18942.hp2 NA18972.hp2 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0315 a0001c0001t0008g0317 a0001c0001t0008g0321 a0001c0001t0008g0315 a0001c0001t0008g0317 a0001c0001t0008g0321	3	420	0.0071	44	c.-39 others(55): Show c.-3996_-3995insCATGTGTGCGCGTGCGCGCGCGCGCGCGCGCGCG CGCGCACACA	IREB2	ENSG00000136381.13	transcript	ENST00000258886.13	protein_coding		3873		chr15	TogoVar
IREB2_chr15_78433216_78506453	78434342	G G	GCATGTGT others(37): Show GCATGTGTGCGCGTGCGCGCGCGCGCGCGCGCGCGCGCGCGCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0319 a0001c0001t0008g0319	1	420	0.0024	44	c.-39 others(55): Show c.-3996_-3995insCATGTGTGCGCGTGCGCGCGCGCGCGCGCGCGCG CGCGCGCACA	IREB2	ENSG00000136381.13	transcript	ENST00000258886.13	protein_coding		3873		chr15	TogoVar
IRF3_chr19_49654572_49670857	49659984	T T	TACACACA others(37): Show TACACACACACACATATACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01981.hp1 HG03195.hp1 others(1): Show HG01346.hp2 HG01981.hp1 HG03195.hp1 HG03516.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0049 a0002c0001t0002g0144 a0002c0001t0002g0169 a0002c0001t0002g0049 a0002c0001t0002g0144 a0002c0001t0002g0169	4	400	0.0100	44	c.109 others(61): Show c.1099-152_1099-151insGTGTGTGTGTGTGTGTGTGTGTGTGTGT ATATGTGTGTGTGTGT	IRF3	ENSG00000126456.16	transcript	ENST00000377139.8	protein_coding	7/7			chr19	TogoVar
ITGA4_chr2_181452386_181543940	181539019	G G	GAAGAGAG others(37): Show GAAGAGAGCTTTCGTTACAATGCCACAATGATAGTAAACAGAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	368	0.0027	44	c.34 others(55): Show c.3492_*3493insAAGAGAGCTTTCGTTACAATGCCACAATGATAGT AAACAGAGAA	ITGA4	ENSG00000115232.14	transcript	ENST00000397033.7	protein_coding		80		chr2	TogoVar
ITGAL_chr16_30467742_30528185	30499713	G G	GTATATAT others(37): Show GTATATATATATGTGTATATATATATACGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0023 a0002c0023	a0002c0023t0001 a0002c0023t0001	a0002c0023t0001g0195 a0002c0023t0001g0195	1	318	0.0031	44	c.214 others(61): Show c.2145+235_2145+236insGTGTATATATATATACGTATATATATAT ATATATATATATATAT	ITGAL	ENSG00000005844.19	transcript	ENST00000356798.11	protein_coding	17/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGAM_chr16_31254975_31337877	31270126	C C	CTCCTTTG others(37): Show CTCCTTTGCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03688.hp1 HG04115.hp2 others(2): Show HG03579.hp2 HG03688.hp1 HG04115.hp2 HG04199.hp1 NA18522.hp2	a0002 a0004 a0002 a0004	a0002c0003 a0004c0006 a0002c0003 a0004c0006	a0002c0003t0003 a0004c0006t0003 a0002c0003t0003 a0004c0006t0003	a0002c0003t0003g0061 a0002c0003t0003g0062 a0002c0003t0003g0116 others(2): Show a0002c0003t0003g0061 a0002c0003t0003g0062 a0002c0003t0003g0116 a0004c0006t0003g0007 a0004c0006t0003g0011	5	244	0.0205	44	c.428 others(59): Show c.428-827_428-826insCCTTTGCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTT	ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding	5/29		INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGB5_chr3_124756948_124892365	124810908	T T	TTTTCTTT others(37): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	352	0.0028	44	c.112 others(63): Show c.1129-1753_1129-1752insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAA	ITGB5	ENSG00000082781.12	transcript	ENST00000296181.9	protein_coding	8/14			chr3	TogoVar
ITIH5_chr10_7554270_7671966	7566770	G G	GGAGAAGG others(37): Show GGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0060 a0003c0002t0001g0060	1	342	0.0029	44	c.215 others(61): Show c.2150-364_2150-363insTCCTTCTCCTTCTCCTTCTCCTTCTCCT TCTCCTTCTCCTTCTC	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	12/13			chr10	TogoVar
ITLN1_chr1_160871540_160890180	160873767	C C	CATATATA others(37): Show CATATATATATATATATATATATACGTATATATATACATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG02630.hp2 HG00733.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0001 a0001c0001t0001g0010	2	428	0.0047	44	c.28 others(55): Show c.2896_*2897insATATATATGTATATATATACGTATATATATATAT ATATATATAT	ITLN1	ENSG00000179914.5	transcript	ENST00000326245.4	protein_coding		2772		chr1	TogoVar
ITLN2_chr1_160940025_160959809	160958526	T T	TTAATTTT others(37): Show TTAATTTTCATGTAAATCTGAGGTGAACATCTAAAACCTCTGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	480	0.0021	44	c.-37 others(55): Show c.-3786_-3785insTGCCAGAGGTTTTAGATGTTCACCTCAGATTTAC ATGAAAATTA	ITLN2	ENSG00000158764.7	transcript	ENST00000368029.4	protein_coding		3718		chr1	TogoVar
JADE2_chr5_134520670_134588227	134560478	T T	TGTTAATT others(37): Show TGTTAATTGTACACATGTGTCCCTGTGGTCACAGGCAGGCTGGTC	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0174 a0001c0001t0020g0174	1	388	0.0026	44	c.473 others(59): Show c.473-227_473-226insGTCGTTAATTGTACACATGTGTCCCTGTGG TCACAGGCAGGCTG	JADE2	ENSG00000043143.22	transcript	ENST00000681547.2	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
JAKMIP1_chr4_6021199_6205549	6152789	A A	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATACATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	233	0.0043	44	c.-14 others(65): Show c.-147-39793_-147-39792insATATATATGTATATATATATATAT ATATATATATATATATATAT	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	1/20			chr4	TogoVar
JAKMIP2_chr5_147580438_147787728	147742155	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0050 a0001c0002t0050	a0001c0002t0050g0093 a0001c0002t0050g0093	1	250	0.0040	44	c.-14 others(65): Show c.-149+40300_-149+40301insAATATATATATATATATATATATA TATATATATATATATATATA	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP3_chr10_132060946_132189858	132097863	C C	CTTCCTTT others(37): Show CTTCCTTTTATTTTCTTCCCTTCCCCTTCCCCTTCCCCTTCCCCT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03041.hp1 NA18522.hp2 others(2): Show HG02258.hp1 HG03041.hp1 NA18522.hp2 NA19043.hp1 NA20300.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0013 a0001c0017 a0003c0018 others(1): Show a0001c0013 a0001c0017 a0003c0018 a0004c0011	a0001c0013t0024 a0001c0017t0003 a0001c0017t0005 others(2): Show a0001c0013t0024 a0001c0017t0003 a0001c0017t0005 a0003c0018t0003 a0004c0011t0040	a0001c0013t0024g0078 a0001c0017t0003g0104 a0001c0017t0005g0079 others(2): Show a0001c0013t0024g0078 a0001c0017t0003g0104 a0001c0017t0005g0079 a0003c0018t0003g0015 a0004c0011t0040g0060	5	158	0.0317	44	c.-13 others(63): Show c.-137-6803_-137-6802insTTATTTTCTTCCCTTCCCCTTCCCCT TCCCCTTCCCCTTTCCTT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132149576	G G	GCCCCACC others(37): Show GCCCCACCCCCTCCCCCTCTCCGCCCCCGCACCCCCCCTCGCCGC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0016 a0002c0005t0001g0016	1	158	0.0063	44	c.194 others(59): Show c.1947+70_1947+71insACCCCCTCCCCCTCTCCGCCCCCGCACCCC CCCTCGCCGCCCCC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	15/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132149649	A A	ACCCCCCC others(37): Show ACCCCCCCTCCGCCCCCGCCCCACCCCCTCCGCCCCCGCCCCACC	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0076 a0003c0003t0001g0076	1	158	0.0063	44	c.194 others(61): Show c.1947+142_1947+143insCCCCTCCGCCCCCGCCCCACCCCCTCCG CCCCCGCCCCACCCCC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	15/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132180598	C C	CGTGTGTG others(37): Show CGTGTGTGCGTGTGTGTGGTGCGTGTGTGTGTGGTGCGCGTGTGT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0008 a0002c0025t0008	a0002c0025t0008g0033 a0002c0025t0008g0033	1	158	0.0063	44	c.11 others(65): Show c.1104-1756_*1104-1755insTGTGCGTGTGTGTGGTGCGTGTGT GTGTGGTGCGCGTGTGTGTG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAZF1_chr7_27825577_28185795	27849752	G G	GACACAGA others(37): Show GACACAGACACAGACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA19240.hp2 HG03041.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0167 a0001c0001t0004g0103 a0001c0001t0001g0167 a0001c0001t0004g0103	2	206	0.0097	44	c.386 others(61): Show c.386-8886_386-8885insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTCTGTGTCTGTGT	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	3/4			chr7	TogoVar
JAZF1_chr7_27825577_28185795	27849772	C C	CACACACA others(37): Show CACACACACACACACACACACACACACACACACACACACACATAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	206	0.0049	44	c.386 others(61): Show c.386-8906_386-8905insATATGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGT	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	3/4			chr7	TogoVar
JCAD_chr10_30007803_30064586	30059599	T T	TCCGCCCC others(37): Show TCCGCCCCGCCCACCGCCCGGGCCCGCCCCGCCCACCGCCCGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02895.hp2 HG03209.hp1 others(3): Show HG02572.hp1 HG02895.hp2 HG03209.hp1 HG03831.hp1 NA18906.hp1 NA21309.hp2	a0001 a0002 a0023 a0001 a0002 a0023	a0001c0005 a0001c0019 a0002c0002 others(2): Show a0001c0005 a0001c0019 a0002c0002 a0002c0006 a0023c0042	a0001c0005t0058 a0001c0019t0018 a0002c0002t0031 others(2): Show a0001c0005t0058 a0001c0019t0018 a0002c0002t0031 a0002c0006t0004 a0023c0042t0032	a0001c0005t0058g0131 a0001c0019t0018g0340 a0002c0002t0031g0079 others(3): Show a0001c0005t0058g0131 a0001c0019t0018g0340 a0002c0002t0031g0079 a0002c0006t0004g0078 a0002c0006t0004g0123 a0023c0042t0032g0132	6	398	0.0151	44	c.-17 others(53): Show c.-178_-177insGCCCGGGCGGTGGGCGGGGCGGGCCCGGGCGGTGGG CGGGGCGG	JCAD	ENSG00000165757.9	transcript	ENST00000375377.2	protein_coding		14		chr10	TogoVar
JPH2_chr20_44101590_44192188	44126168	G G	GAGGGAGG others(37): Show GAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18984.hp1 NA18971.hp1 NA18984.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0006c0021 a0002c0002 a0006c0021	a0002c0002t0018 a0006c0021t0013 a0002c0002t0018 a0006c0021t0013	a0002c0002t0018g0108 a0006c0021t0013g0143 a0002c0002t0018g0108 a0006c0021t0013g0143	2	338	0.0059	44	c.117 others(63): Show c.1170-7546_1170-7545insTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTCCCTCCCTCCCT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH2_chr20_44101590_44192188	44126168	G G	GAGGGAGG others(37): Show GAGGGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA19060.hp2 NA18941.hp2 NA19060.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0018 a0002c0002t0013 a0002c0002t0018	a0002c0002t0013g0144 a0002c0002t0018g0106 a0002c0002t0013g0144 a0002c0002t0018g0106	2	338	0.0059	44	c.117 others(63): Show c.1170-7546_1170-7545insTCCTTCCTTCCTTCCTTCCTTCCTTC CTCCCTCCCTCCCTCCCT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH2_chr20_44101590_44192188	44126168	G G	GAGGGAGG others(37): Show GAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0057 a0001c0001t0003g0057	1	338	0.0030	44	c.117 others(63): Show c.1170-7546_1170-7545insTCCTTCCTTCCTTCCTTCCTTCCTCC CTCCCTCCCTCCCTCCCT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH2_chr20_44101590_44192188	44126168	G G	GAGGGAGG others(37): Show GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18950.hp1 HG00609.hp2 NA18950.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0052 a0002c0002t0066 a0002c0002t0052 a0002c0002t0066	a0002c0002t0052g0062 a0002c0002t0066g0101 a0002c0002t0052g0062 a0002c0002t0066g0101	2	338	0.0059	44	c.117 others(63): Show c.1170-7546_1170-7545insTCCTTCCTTCCTTCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH2_chr20_44101590_44192188	44133948	T T	TATATATA others(37): Show TATATATATATTTATTATAAATATATAAATATATATTTATTATAA	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0029 a0002c0002t0003g0029	1	338	0.0030	44	c.117 others(65): Show c.1170-15326_1170-15325insTTATAATAAATATATATTTATATA TTTATAATAAATATATATAT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
KANK1_chr9_499695_751103	514143	C C	CCTCTCTC others(37): Show CCTCTCTCCCTCCCTCCCTCTCTCCCTCCCTCCCTCCCTTCCTCT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03486.hp1 HG02976.hp1 HG03486.hp1	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0001 a0010c0013t0001	a0010c0013t0001g0066 a0010c0013t0001g0068 a0010c0013t0001g0066 a0010c0013t0001g0068	2	254	0.0079	44	c.-84 others(61): Show c.-84+9391_-84+9392insCTCTCCCTCCCTCCCTCTCTCCCTCCCT CCCTCCCTTCCTCTCT	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
KANK1_chr9_499695_751103	514223	C C	CCTCCCTC others(37): Show CCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTTCCTCT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01891.hp2 HG02965.hp2 others(2): Show HG00741.hp2 HG01891.hp2 HG02965.hp2 NA18906.hp1 NA21309.hp1	a0004 a0014 a0017 a0004 a0014 a0017	a0004c0005 a0004c0034 a0014c0012 others(1): Show a0004c0005 a0004c0034 a0014c0012 a0017c0024	a0004c0005t0001 a0004c0034t0001 a0014c0012t0001 others(2): Show a0004c0005t0001 a0004c0034t0001 a0014c0012t0001 a0014c0012t0012 a0017c0024t0007	a0004c0005t0001g0092 a0004c0034t0001g0096 a0014c0012t0001g0095 others(2): Show a0004c0005t0001g0092 a0004c0034t0001g0096 a0014c0012t0001g0095 a0014c0012t0012g0094 a0017c0024t0007g0093	5	254	0.0197	44	c.-84 others(61): Show c.-84+9483_-84+9484insTCCTCTCTCCCTCCCTCCCTCCCTTCCT CTCTCCCTCCCTCCCT	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
KANSL1_chr17_46024916_46198429	46052964	C C	CAAAAAAA others(37): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0267 a0002c0003t0003g0267	1	321	0.0031	44	c.184 others(63): Show c.1849-2261_1849-2260insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT	KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	6/14			chr17	TogoVar
KAT2B_chr3_20035446_20159404	20061986	T T	TAATATAT others(37): Show TAATATATATTATATATAAAACATAATATATATTATATATAAAAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01081.hp1 HG01123.hp1 others(15): Show HG00738.hp2 HG01081.hp1 HG01123.hp1 HG01175.hp2 HG01243.hp1 HG01361.hp2 HG01516.hp2 HG02615.hp2 HG03486.hp1 HG04204.hp1 NA18969.hp1 NA18975.hp1 NA18980.hp1 NA18989.hp1 NA18994.hp2 NA19009.hp1 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0013 a0001c0002t0001g0020 a0001c0002t0001g0021 others(15): Show a0001c0002t0001g0013 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0057 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0132 a0001c0002t0001g0143 a0001c0002t0001g0149 a0001c0002t0001g0153 a0001c0002t0001g0198 a0001c0002t0001g0203 a0001c0002t0001g0227 a0001c0002t0001g0237 a0001c0002t0001g0290	18	374	0.0481	44	c.304 others(63): Show c.304-10346_304-10345insATATATATTATATATAAAACATAATA TATATTATATATAAAACA	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KATNBL1_chr15_34135674_34215096	34181856	C C	CATATATA others(37): Show CATATATATATCCATATATATATATCCATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0007	1	344	0.0029	44	c.-14 others(63): Show c.-14-18167_-14-18166insATATATATATATATATATGGATATAT ATATATGGATATATATAT	KATNBL1	ENSG00000134152.11	transcript	ENST00000256544.8	protein_coding	1/9			chr15	TogoVar
KAZN_chr1_14593685_15123043	14883335	A A	AGAGAGAG others(37): Show AGAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0023 a0001c0001t0017g0023	1	146	0.0069	44	c.227 others(63): Show c.227-77342_227-77341insGGAGGGAGGGAGGGAGGGAGGGAGGG AGGGAGGGAGGGAGAGAG	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14883337	A A	AGAGAGAG others(37): Show AGAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0032 a0002c0004t0001g0032	1	146	0.0069	44	c.227 others(63): Show c.227-77341_227-77340insGGGAGGGAGGGAGGGAGGGAGGGAGG GAGGGAGGGAGGGAGAGA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14883345	A A	AGAGGGAG others(37): Show AGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0080 a0001c0001t0015g0080	1	146	0.0069	44	c.227 others(63): Show c.227-77337_227-77336insGGGAGGGAGGGAGGGAGGGAGGGAGG GAGGGAGGGAGGGAGGGA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	15101164	T T	TTCTCTCT others(37): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA19005.hp1 HG00558.hp2 NA19005.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0020 a0002c0002t0001g0071 a0002c0002t0001g0020 a0002c0002t0001g0071	2	146	0.0137	44	c.154 others(61): Show c.1548-356_1548-355insCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCT	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNC2_chr12_75035078_75214839	75205917	C C	CCAAGTTG others(37): Show CCAAGTTGAAGCTACTAATTCTATGTTCAAATATGTGTATGCAGG	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0286 a0001c0001t0001g0286	1	316	0.0032	44	c.687 others(61): Show c.687+1336_687+1379dupCCTGCATACACATATTTGAACATAGAAT TAGTAGCTTCAACTTG	KCNC2	ENSG00000166006.14	transcript	ENST00000549446.6	protein_coding	2/4			chr12	TogoVar
KCNH1_chr1_210673314_211139148	210806836	A A	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0065 a0001c0001t0016g0065	1	164	0.0061	44	c.146 others(63): Show c.1463-2671_1463-2670insATATATATATATATATATATATATAT ATATATATATATATATAT	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	7/10			chr1	TogoVar
KCNH1_chr1_210673314_211139148	210856898	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0094 a0001c0002t0001g0094	1	164	0.0061	44	c.146 others(65): Show c.1463-52733_1463-52732insTTATATATATATATATATATATAT ATATATATATATATATATAT	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	7/10			chr1	TogoVar
KCNH5_chr14_62694464_63050458	62853458	T T	TATATATA others(37): Show TATATATATATATATATATATATATATCATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0148 a0001c0003t0008g0148	1	224	0.0045	44	c.137 others(63): Show c.1370-3607_1370-3606insGATATATATATATATATGATATATAT ATATATATATATATATAT	KCNH5	ENSG00000140015.20	transcript	ENST00000322893.12	protein_coding	7/10			chr14	TogoVar
KCNJ10_chr1_160032467_160075160	160049671	T T	TTATTTAT others(37): Show TTATTTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0226 a0001c0001t0004g0226	1	408	0.0025	44	c.1-7 others(57): Show c.1-7183_1-7140dupTATATATATATATATATATATATATATATATA TATATATAAATA	KCNJ10	ENSG00000177807.10	transcript	ENST00000644903.1	protein_coding	1/1			chr1	TogoVar
KCNJ6_chr21_37602373_37921457	37616590	C C	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATACATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0024 a0001c0001t0075g0024	1	198	0.0051	44	c.85 others(55): Show c.8568_*8569insATATGTATATATATATATATATATATATATATAT ATATATATAT	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	4/4	8568		chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37616590	C C	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01243.hp1 HG01257.hp2 HG01243.hp1 HG01257.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0061 a0002c0005t0170 a0001c0001t0061 a0002c0005t0170	a0001c0001t0061g0172 a0002c0005t0170g0136 a0001c0001t0061g0172 a0002c0005t0170g0136	2	198	0.0101	44	c.85 others(55): Show c.8568_*8569insATATATATATATATATATATATATATATATATAT ATATATATAT	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	4/4	8568		chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37616590	C C	CATATGTA others(37): Show CATATGTATATATATATATATATATATATATATATATATATACAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0051 a0001c0003t0051	a0001c0003t0051g0005 a0001c0003t0051g0005	1	198	0.0051	44	c.85 others(55): Show c.8568_*8569insATGTATATATATATATATATATATATATATATAT ATATACATAT	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	4/4	8568		chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37616592	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATATATATAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0041 a0001c0001t0037g0041	1	198	0.0051	44	c.85 others(55): Show c.8566_*8567insGTATATATATATATATATATATATATATATATAT ATATATATAT	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	4/4	8566		chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37630134	C C	CTGTGTGT others(37): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA19085.hp1 HG02083.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0018 a0001c0004t0008 a0001c0001t0018 a0001c0004t0008	a0001c0001t0018g0104 a0001c0004t0008g0037 a0001c0001t0018g0104 a0001c0004t0008g0037	2	198	0.0101	44	c.947 others(61): Show c.947-4651_947-4650insCACACACACACACACACACACACACACA CACACACACACACACA	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	3/3			chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37712635	C C	CTCCTCCC others(37): Show CTCCTCCCCTTCTCCTCTCTCCCTCCTCCCTTTCTCTTCCCTCCT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02559.hp1 HG02965.hp1 HG02280.hp2 HG02559.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0022 a0001c0001t0001 a0001c0001t0022	a0001c0001t0001g0020 a0001c0001t0001g0132 a0001c0001t0022g0097 a0001c0001t0001g0020 a0001c0001t0001g0132 a0001c0001t0022g0097	3	198	0.0152	44	c.946 others(61): Show c.946+1575_946+1576insAGGAGGGAAGAGAAAGGGAGGAGGGAGA GAGGAGAAGGGGAGGA	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	3/3			chr21	TogoVar

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Search Results (Total: 4475 hits)