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
ITIH5_chr10_7554270_7671966	7671804	GGGGATGG others(15): Show GGGGATGGTATGTATGTTGGGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0001 a0002c0018t0001	a0002c0018t0001g0303 a0002c0018t0001g0303	1	342	0.0029	-22	c.-49 others(33): Show c.-4934_-4913delTCCCCAACATACATACCATCCC	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding		4839		chr10	TogoVar
ITIH5_chr10_7554270_7671966	7671810	GGTATGTA others(15): Show GGTATGTATGTTGGGGAGGGGAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0299 a0001c0006t0001g0299	1	342	0.0029	-22	c.-49 others(33): Show c.-4940_-4919delATCCCCTCCCCAACATACATAC	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding		4845		chr10	TogoVar
ITPK1_chr14_92931914_93120925	93111004	TCATCCCT others(15): Show TCATCCCTCATCCCTCATCCCTC	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01433.hp2 HG01928.hp2 others(14): Show HG01074.hp1 HG01433.hp2 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01978.hp1 HG02293.hp2 HG02300.hp1 HG02886.hp2 HG02895.hp2 HG03209.hp1 HG03471.hp1 HG03688.hp2 NA19030.hp1 NA19068.hp2 NA20300.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 others(9): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0016 a0001c0001t0036 a0001c0001t0071 a0001c0001t0082 a0001c0001t0090 a0001c0001t0092 a0001c0002t0003	a0001c0001t0002g0237 a0001c0001t0006g0235 a0001c0001t0008g0226 others(14): Show a0001c0001t0002g0237 a0001c0001t0006g0235 a0001c0001t0008g0226 a0001c0001t0008g0227 a0001c0001t0008g0230 a0001c0001t0008g0232 a0001c0001t0008g0234 a0001c0001t0010g0240 a0001c0001t0010g0241 a0001c0001t0012g0242 a0001c0001t0016g0228 a0001c0001t0036g0239 a0001c0001t0071g0238 a0001c0001t0082g0229 a0001c0001t0090g0231 a0001c0001t0092g0233 a0001c0002t0003g0236	17	243	0.0700	-22	c.95+ others(37): Show c.95+4043_95+4064delGAGGGATGAGGGATGAGGGATG	ITPK1	ENSG00000100605.17	transcript	ENST00000267615.11	protein_coding	2/10			chr14	TogoVar
ITPKB_chr1_226626690_226744282	226649272	AGTGTGCA others(15): Show AGTGTGCATGTGTGTGTGCGTGT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02559.hp2 HG03098.hp1 HG02145.hp1 HG02559.hp2 HG03098.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0019 a0003c0003t0019 a0001c0001t0019 a0003c0003t0019	a0001c0001t0019g0010 a0001c0001t0019g0232 a0003c0003t0019g0168 a0001c0001t0019g0010 a0001c0001t0019g0232 a0003c0003t0019g0168	3	350	0.0086	-22	c.193 others(39): Show c.1933-523_1933-502delACACGCACACACACATGCACAC	ITPKB	ENSG00000143772.11	transcript	ENST00000429204.6	protein_coding	2/7			chr1	TogoVar
ITPKB_chr1_226626690_226744282	226649293	GTGTGTGC others(15): Show GTGTGTGCATGTGTGTGTGCATA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02615.hp2 HG02809.hp1 others(5): Show HG02572.hp2 HG02615.hp2 HG02809.hp1 HG02922.hp1 HG03041.hp2 HG03225.hp2 HG03516.hp1 HG03540.hp2	a0004 a0009 a0004 a0009	a0004c0004 a0009c0009 a0004c0004 a0009c0009	a0004c0004t0017 a0004c0004t0036 a0009c0009t0018 a0004c0004t0017 a0004c0004t0036 a0009c0009t0018	a0004c0004t0017g0035 a0004c0004t0017g0036 a0004c0004t0017g0037 others(5): Show a0004c0004t0017g0035 a0004c0004t0017g0036 a0004c0004t0017g0037 a0004c0004t0017g0140 a0004c0004t0036g0031 a0009c0009t0018g0028 a0009c0009t0018g0029 a0009c0009t0018g0030	8	350	0.0229	-22	c.193 others(39): Show c.1933-544_1933-523delTATGCACACACACATGCACACA	ITPKB	ENSG00000143772.11	transcript	ENST00000429204.6	protein_coding	2/7			chr1	TogoVar
ITPKB_chr1_226626690_226744282	226649356	ATGTGCAT others(15): Show ATGTGCATGTGTGCATGTGATTG	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0045 a0001c0001t0003g0045	1	350	0.0029	-22	c.193 others(39): Show c.1933-607_1933-586delCAATCACATGCACACATGCACA	ITPKB	ENSG00000143772.11	transcript	ENST00000429204.6	protein_coding	2/7			chr1	TogoVar
ITPR1_chr3_4488348_4852506	4566604	GCACACAC others(15): Show GCACACACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01496.hp1 HG01517.hp1 others(3): Show HG00741.hp2 HG01496.hp1 HG01517.hp1 HG01884.hp2 HG02451.hp2 HG02735.hp1	a0001 a0001	a0001c0002 a0001c0009 a0001c0010 others(3): Show a0001c0002 a0001c0009 a0001c0010 a0001c0015 a0001c0023 a0001c0024	a0001c0002t0001 a0001c0009t0001 a0001c0010t0001 others(3): Show a0001c0002t0001 a0001c0009t0001 a0001c0010t0001 a0001c0015t0001 a0001c0023t0016 a0001c0024t0002	a0001c0002t0001g0162 a0001c0009t0001g0057 a0001c0010t0001g0150 others(3): Show a0001c0002t0001g0162 a0001c0009t0001g0057 a0001c0010t0001g0150 a0001c0015t0001g0041 a0001c0023t0016g0152 a0001c0024t0002g0151	6	176	0.0341	-22	c.163 others(41): Show c.163+45528_163+45549delACACACACACACACACACACAC	ITPR1	ENSG00000150995.21	transcript	ENST00000649015.2	protein_coding	4/61		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITPR2_chr12_26330352_26838194	26831689	TATATTCT others(15): Show TATATTCTACATAAAATATATAA	T T	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0056 a0001c0056	a0001c0056t0001 a0001c0056t0001	a0001c0056t0001g0017 a0001c0056t0001g0017	1	142	0.0070	-22	c.92+ others(36): Show c.92+979_92+1000delTTATATATTTTATGTAGAATAT	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	1/56			chr12	TogoVar
ITPRID1_chr7_31509090_31661504	31520515	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01071.hp2 HG01099.hp2 others(17): Show HG00140.hp2 HG01071.hp2 HG01099.hp2 HG01243.hp2 HG01261.hp1 HG01433.hp1 HG01975.hp2 HG02486.hp2 HG02615.hp2 HG02698.hp2 HG02738.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03834.hp1 HG03942.hp2 HG04204.hp2 NA19066.hp1 NA20129.hp1 NA20805.hp2	a0002 a0003 a0006 a0002 a0003 a0006	a0002c0001 a0002c0004 a0002c0033 others(4): Show a0002c0001 a0002c0004 a0002c0033 a0002c0034 a0003c0005 a0003c0012 a0006c0010	a0002c0001t0001 a0002c0001t0005 a0002c0004t0001 others(7): Show a0002c0001t0001 a0002c0001t0005 a0002c0004t0001 a0002c0004t0002 a0002c0004t0007 a0002c0033t0005 a0002c0034t0005 a0003c0005t0003 a0003c0012t0011 a0006c0010t0031	a0002c0001t0001g0284 a0002c0001t0001g0293 a0002c0001t0005g0267 others(17): Show a0002c0001t0001g0284 a0002c0001t0001g0293 a0002c0001t0005g0267 a0002c0001t0005g0275 a0002c0001t0005g0276 a0002c0001t0005g0283 a0002c0001t0005g0289 a0002c0001t0005g0291 a0002c0004t0001g0281 a0002c0004t0002g0240 a0002c0004t0002g0246 a0002c0004t0002g0290 a0002c0004t0007g0241 a0002c0033t0005g0292 a0002c0034t0005g0295 a0003c0005t0003g0285 a0003c0005t0003g0287 a0003c0005t0003g0288 a0003c0012t0011g0294 a0006c0010t0031g0297	20	312	0.0641	-22	c.-98 others(39): Show c.-98+6424_-98+6445delTGTGTGTGTGTGTGTGTGTGTG	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31520544	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGTGTGTGA	T T	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0296 a0002c0004t0002g0296	1	312	0.0032	-22	c.-98 others(39): Show c.-98+6426_-98+6447delTGTGTGTGTGTGTGTGTGTGAG	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31520550	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0064 a0001c0003t0001g0064	1	312	0.0032	-22	c.-98 others(39): Show c.-98+6432_-98+6453delTGTGTGTGTGTGTGAGAGAGAG	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRIPL1_chr2_96320317_96333353	96329149	TTATATAT others(15): Show TTATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 NA18939.hp1 NA19060.hp1 HG00733.hp2 NA18939.hp1 NA19060.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0002c0002t0001g0001 a0001c0001t0001g0001 a0002c0002t0001g0001	3	364	0.0082	-22	c.85 others(31): Show c.851_*872delTATATATATATATATATATATA	ITPRIPL1	ENSG00000198885.10	transcript	ENST00000439118.3	protein_coding		797		chr2	TogoVar
ITPRIP_chr10_104304700_104343465	104306054	TGCGCGCG others(15): Show TGCGCGCGCGCGCGCGCGTGCGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02970.hp2 HG03579.hp2 others(2): Show HG02723.hp2 HG02970.hp2 HG03579.hp2 NA18997.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0025 a0001c0001t0003 a0001c0001t0025	a0001c0001t0003g0008 a0001c0001t0003g0015 a0001c0001t0003g0183 others(2): Show a0001c0001t0003g0008 a0001c0001t0003g0015 a0001c0001t0003g0183 a0001c0001t0003g0194 a0001c0001t0025g0187	5	324	0.0154	-22	c.83 others(33): Show c.8332_*8353delGCGCACGCGCGCGCGCGCGCGC	ITPRIP	ENSG00000148841.17	transcript	ENST00000337478.3	protein_coding		3645		chr10	TogoVar
ITSN1_chr21_33637501_33904861	33690775	GTATATAT others(15): Show GTATATATATATATACATATATA	G G	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA18973.hp2 NA18979.hp2 others(3): Show HG02523.hp2 NA18973.hp2 NA18979.hp2 NA19004.hp2 NA19059.hp2 NA19060.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0025 others(1): Show a0001c0001 a0001c0005 a0001c0025 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0052 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0052 a0001c0005t0001 a0001c0025t0001 a0002c0004t0062	a0001c0001t0001g0105 a0001c0001t0002g0091 a0001c0001t0052g0052 others(3): Show a0001c0001t0001g0105 a0001c0001t0002g0091 a0001c0001t0052g0052 a0001c0005t0001g0015 a0001c0025t0001g0094 a0002c0004t0062g0100	6	242	0.0248	-22	c.-32 others(41): Show c.-32-28007_-32-27986delCATATATATATATATATATATA	ITSN1	ENSG00000205726.15	transcript	ENST00000381318.8	protein_coding	1/39		INFO_REALIGN_3_PRIME	chr21	TogoVar
ITSN2_chr2_24197864_24365536	24277212	AGAGTAAT others(15): Show AGAGTAATCAAAAGAAACTTCAT	A A	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0212 a0001c0005t0002g0212	1	224	0.0045	-22	c.194 others(41): Show c.1945-1385_1945-1364delATGAAGTTTCTTTTGATTACTC	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	17/39			chr2	TogoVar
IZUMO2_chr19_50147548_50168281	50163957	TATATATA others(15): Show TATATATATATATATAGAGAGAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	394	0.0025	-22	c.-78 others(31): Show c.-785_-764delCTCTCTCTATATATATATATAT	IZUMO2	ENSG00000161652.13	transcript	ENST00000293405.8	protein_coding		677		chr19	TogoVar
JAG1_chr20_10632684_10678999	10653964	TGTCAACG others(15): Show TGTCAACGTGACAAGTGACTAAA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01109.hp1 HG01243.hp2 others(12): Show HG00639.hp2 HG01109.hp1 HG01243.hp2 HG01433.hp1 HG02280.hp1 HG02559.hp2 HG02809.hp1 HG02965.hp2 HG03195.hp1 HG03209.hp1 HG03491.hp2 HG03579.hp2 HG04199.hp1 HG06807.hp2 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0008 others(3): Show a0001c0002 a0001c0005 a0001c0008 a0001c0033 a0001c0049 a0001c0050	a0001c0002t0004 a0001c0005t0006 a0001c0005t0010 others(7): Show a0001c0002t0004 a0001c0005t0006 a0001c0005t0010 a0001c0005t0011 a0001c0005t0013 a0001c0008t0001 a0001c0033t0016 a0001c0033t0017 a0001c0049t0005 a0001c0050t0005	a0001c0002t0004g0323 a0001c0005t0006g0126 a0001c0005t0006g0127 others(11): Show a0001c0002t0004g0323 a0001c0005t0006g0126 a0001c0005t0006g0127 a0001c0005t0006g0180 a0001c0005t0010g0081 a0001c0005t0011g0118 a0001c0005t0011g0185 a0001c0005t0013g0011 a0001c0008t0001g0327 a0001c0008t0001g0331 a0001c0033t0016g0270 a0001c0033t0017g0047 a0001c0049t0005g0143 a0001c0050t0005g0164	15	412	0.0364	-22	c.756 others(39): Show c.756-1388_756-1367delTTTAGTCACTTGTCACGTTGAC	JAG1	ENSG00000101384.12	transcript	ENST00000254958.10	protein_coding	5/25			chr20	TogoVar
JAG1_chr20_10632684_10678999	10664373	AACACACA others(15): Show AACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02717.hp1 HG02896.hp2 others(5): Show HG02486.hp2 HG02717.hp1 HG02896.hp2 HG02897.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 NA18522.hp1	a0001 a0001	a0001c0004 a0001c0006 a0001c0016 others(2): Show a0001c0004 a0001c0006 a0001c0016 a0001c0028 a0001c0031	a0001c0004t0012 a0001c0006t0021 a0001c0016t0006 others(3): Show a0001c0004t0012 a0001c0006t0021 a0001c0016t0006 a0001c0016t0008 a0001c0028t0002 a0001c0031t0008	a0001c0004t0012g0318 a0001c0006t0021g0317 a0001c0016t0006g0129 others(4): Show a0001c0004t0012g0318 a0001c0006t0021g0317 a0001c0016t0006g0129 a0001c0016t0006g0131 a0001c0016t0008g0132 a0001c0028t0002g0007 a0001c0031t0008g0137	8	412	0.0194	-22	c.388 others(37): Show c.388-381_388-360delGTGTGTGTGTGTGTGTGTGTGT	JAG1	ENSG00000101384.12	transcript	ENST00000254958.10	protein_coding	2/25			chr20	TogoVar
JAG1_chr20_10632684_10678999	10669547	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG03195.hp1 HG03471.hp2 HG01106.hp1 HG03195.hp1 HG03471.hp2	a0001 a0003 a0001 a0003	a0001c0008 a0001c0056 a0003c0026 a0001c0008 a0001c0056 a0003c0026	a0001c0008t0001 a0001c0056t0010 a0003c0026t0006 a0001c0008t0001 a0001c0056t0010 a0003c0026t0006	a0001c0008t0001g0327 a0001c0056t0010g0083 a0003c0026t0006g0111 a0001c0008t0001g0327 a0001c0056t0010g0083 a0003c0026t0006g0111	3	412	0.0073	-22	c.387 others(39): Show c.387+3132_387+3153delTTTTTTTTTTTTTTTTTTTTTT	JAG1	ENSG00000101384.12	transcript	ENST00000254958.10	protein_coding	2/25			chr20	TogoVar
JAK1_chr1_64828229_64971549	64878561	GTATATAT others(15): Show GTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0105 a0001c0002t0002g0105	1	326	0.0031	-22	c.329 others(37): Show c.329+442_329+463delTATATATATATATATATATATA	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	4/24			chr1	TogoVar
JAK2_chr9_4980272_5134948	5005083	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02630.hp2 HG02717.hp1 others(2): Show HG02109.hp2 HG02630.hp2 HG02717.hp1 HG02809.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0012 a0001c0003t0060 a0001c0002t0012 a0001c0003t0060	a0001c0002t0012g0008 a0001c0002t0012g0009 a0001c0002t0012g0010 others(2): Show a0001c0002t0012g0008 a0001c0002t0012g0009 a0001c0002t0012g0010 a0001c0002t0012g0359 a0001c0003t0060g0007	5	364	0.0137	-22	c.-25 others(41): Show c.-25-16852_-25-16831delTTTTTTTTTTTTTTTTTTTTTT	JAK2	ENSG00000096968.14	transcript	ENST00000381652.4	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr9	TogoVar
JAK3_chr19_17819782_17852982	17827717	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01074.hp1 others(13): Show HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01255.hp1 HG01516.hp1 HG01517.hp2 HG01934.hp1 HG02148.hp2 HG02258.hp2 HG02698.hp1 HG02922.hp2 HG03017.hp2 NA19072.hp2 NA19077.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0024 a0001c0001t0043 a0001c0001t0049 a0001c0001t0070 a0002c0002t0005	a0001c0001t0001g0164 a0001c0001t0001g0201 a0001c0001t0003g0034 others(13): Show a0001c0001t0001g0164 a0001c0001t0001g0201 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0072 a0001c0001t0005g0273 a0001c0001t0005g0279 a0001c0001t0007g0142 a0001c0001t0010g0109 a0001c0001t0011g0169 a0001c0001t0024g0134 a0001c0001t0043g0276 a0001c0001t0049g0197 a0001c0001t0070g0290 a0002c0002t0005g0282	16	414	0.0387	-22	c.320 others(39): Show c.3208-829_3208-808delTTTTTTTTTTTTTTTTTTTTTT	JAK3	ENSG00000105639.21	transcript	ENST00000458235.7	protein_coding	23/23			chr19	TogoVar
JAKMIP1_chr4_6021199_6205549	6098668	GAGAGAAA others(15): Show GAGAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0230 a0001c0008t0002g0230	1	233	0.0043	-22	c.624 others(39): Show c.624+6783_624+6804delTTCTTTCTTTCTTTCTTTCTCT	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	3/20			chr4	TogoVar
JAKMIP1_chr4_6021199_6205549	6098700	GAAAGAAA others(15): Show GAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00673.hp2 HG01071.hp2 others(6): Show HG00639.hp1 HG00673.hp2 HG01071.hp2 HG01515.hp2 HG01993.hp1 HG02486.hp2 HG03704.hp1 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0036 a0001c0001t0001g0062 others(6): Show a0001c0001t0001g0004 a0001c0001t0001g0036 a0001c0001t0001g0062 a0001c0001t0001g0074 a0001c0001t0001g0091 a0001c0001t0001g0099 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0222	9	233	0.0386	-22	c.624 others(39): Show c.624+6751_624+6772delTTCTTTCTTTCTTTCTTTCTTT	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	3/20			chr4	TogoVar
JAKMIP1_chr4_6021199_6205549	6098717	AAAGAAAA others(15): Show AAAGAAAAAGAAAGAAAGAGAAG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00735.hp2 HG01257.hp1 others(19): Show HG00558.hp1 HG00735.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG02622.hp2 HG02698.hp1 HG02717.hp2 HG02895.hp2 HG02970.hp1 HG03017.hp1 HG03239.hp1 HG03942.hp1 NA18906.hp2 NA18974.hp1 NA18975.hp2 NA18993.hp1 NA18998.hp2 NA19005.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0052 others(18): Show a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0052 a0001c0001t0001g0069 a0001c0001t0001g0092 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0148 a0001c0001t0001g0164 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0182 a0001c0001t0001g0200 a0001c0001t0001g0221 a0001c0001t0002g0226	22	233	0.0944	-22	c.624 others(39): Show c.624+6734_624+6755delCTTCTCTTTCTTTCTTTTTCTT	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	3/20			chr4	TogoVar
JAKMIP1_chr4_6021199_6205549	6139065	CACACACA others(15): Show CACACACACACACACACACATAT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	233	0.0043	-22	c.-14 others(43): Show c.-147-26090_-147-26069delATATGTGTGTGTGTGTGTGTGT	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	1/20			chr4	TogoVar
JAKMIP2_chr5_147580438_147787728	147690539	TTATATAT others(15): Show TTATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01169.hp1 HG02080.hp1 others(17): Show HG01106.hp1 HG01169.hp1 HG02080.hp1 HG02602.hp2 HG02615.hp1 HG02735.hp2 HG03130.hp2 NA18964.hp2 NA18967.hp2 NA18972.hp1 NA18988.hp1 NA19004.hp1 NA19012.hp1 NA19057.hp2 NA19074.hp2 NA19080.hp1 NA19083.hp2 NA19085.hp2 NA19089.hp1 NA19089.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0003c0014	a0001c0001t0001 a0001c0001t0015 a0001c0001t0029 others(9): Show a0001c0001t0001 a0001c0001t0015 a0001c0001t0029 a0001c0001t0037 a0001c0001t0047 a0001c0002t0008 a0001c0002t0059 a0001c0002t0083 a0001c0002t0084 a0001c0003t0072 a0001c0004t0003 a0003c0014t0008	a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 others(17): Show a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0015g0247 a0001c0001t0029g0007 a0001c0001t0037g0015 a0001c0001t0047g0014 a0001c0002t0008g0205 a0001c0002t0008g0236 a0001c0002t0008g0237 a0001c0002t0008g0238 a0001c0002t0008g0242 a0001c0002t0059g0149 a0001c0002t0083g0198 a0001c0002t0084g0239 a0001c0003t0072g0184 a0001c0004t0003g0249 a0003c0014t0008g0206	20	250	0.0800	-22	c.-14 others(43): Show c.-148-18607_-148-18586delTATATATATATATATATATATA	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP3_chr10_132060946_132189858	132109065	TACACACA others(15): Show TACACACATACACATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02280.hp1 HG02922.hp1 others(1): Show HG01884.hp2 HG02280.hp1 HG02922.hp1 NA20300.hp1	a0002 a0002	a0002c0010 a0002c0031 a0002c0010 a0002c0031	a0002c0010t0009 a0002c0031t0039 a0002c0010t0009 a0002c0031t0039	a0002c0010t0009g0086 a0002c0010t0009g0087 a0002c0010t0009g0089 others(1): Show a0002c0010t0009g0086 a0002c0010t0009g0087 a0002c0010t0009g0089 a0002c0031t0039g0088	4	158	0.0253	-22	c.135 others(39): Show c.135+4132_135+4153delCACATATATATACACACACATA	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132109113	CATATATA others(15): Show CATATATATATACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0029 a0002c0029	a0002c0029t0015 a0002c0029t0015	a0002c0029t0015g0053 a0002c0029t0015g0053	1	158	0.0063	-22	c.135 others(39): Show c.135+4182_135+4203delCACACACACATATATATATATA	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132138200	CGTGCGGA others(15): Show CGTGCGGAGAGTACGCCGGGTGT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0032 a0002c0025t0032	a0002c0025t0032g0103 a0002c0025t0032g0103	1	158	0.0063	-22	c.134 others(37): Show c.1344+33_1344+54delTACGCCGGGTGTGTGCGGAGAG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	9/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132172104	CCATCAGT others(15): Show CCATCAGTGACACTTTTTTAGTT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0037 a0001c0032t0037	a0001c0032t0037g0124 a0001c0032t0037g0124	1	158	0.0063	-22	c.11 others(43): Show c.1103+3073_*1103+3094delATCAGTGACACTTTTTTAGTTC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JARID2_chr6_15241069_15527042	15404519	GCACACAC others(15): Show GCACACACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02129.hp2 HG03041.hp1 others(8): Show HG01891.hp2 HG02129.hp2 HG03041.hp1 NA18942.hp2 NA18948.hp2 NA18973.hp2 NA18977.hp2 NA18991.hp2 NA18999.hp1 NA19030.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0002 a0001c0001t0008 a0001c0002t0007 others(4): Show a0001c0001t0002 a0001c0001t0008 a0001c0002t0007 a0001c0002t0021 a0001c0002t0039 a0001c0003t0033 a0001c0004t0002	a0001c0001t0002g0055 a0001c0001t0002g0118 a0001c0001t0002g0241 others(8): Show a0001c0001t0002g0055 a0001c0001t0002g0118 a0001c0001t0002g0241 a0001c0001t0008g0041 a0001c0001t0008g0077 a0001c0001t0008g0078 a0001c0002t0007g0177 a0001c0002t0021g0175 a0001c0002t0039g0243 a0001c0003t0033g0038 a0001c0004t0002g0006	11	284	0.0387	-22	c.182 others(39): Show c.182-5672_182-5651delCACACACACACACACACACACA	JARID2	ENSG00000008083.14	transcript	ENST00000341776.7	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
JAZF1_chr7_27825577_28185795	27979366	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	1	206	0.0049	-22	c.188 others(41): Show c.188+12521_188+12542delAAAAAAAAAAAAAAAAAAAAAA	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	2/4			chr7	TogoVar
JAZF1_chr7_27825577_28185795	28170335	ATATGTGT others(15): Show ATATGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00642.hp1 others(25): Show HG00140.hp2 HG00280.hp1 HG00642.hp1 HG00738.hp1 HG01070.hp2 HG01109.hp2 HG01167.hp2 HG01243.hp1 HG01496.hp1 HG01884.hp1 HG01934.hp2 HG02055.hp2 HG02293.hp1 HG02572.hp2 HG02723.hp2 HG02809.hp2 HG02976.hp2 HG03225.hp2 HG03486.hp2 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0019 a0001c0001t0021	a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0102 others(25): Show a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0144 a0001c0001t0001g0162 a0001c0001t0001g0173 a0001c0001t0003g0122 a0001c0001t0003g0129 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0006g0131 a0001c0001t0019g0145 a0001c0001t0021g0127	28	206	0.1359	-22	c.115 others(41): Show c.115+10106_115+10127delCACACACACACACACACACATA	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	1/4			chr7	TogoVar
JAZF1_chr7_27825577_28185795	28170337	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01081.hp1 HG01167.hp1 others(11): Show HG00140.hp1 HG01081.hp1 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01884.hp2 HG02145.hp1 HG02723.hp1 HG03098.hp2 HG03209.hp1 HG03471.hp1 HG03491.hp1 HG03516.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0022 a0001c0001t0001 a0001c0001t0002 a0001c0001t0022	a0001c0001t0001g0077 a0001c0001t0001g0088 a0001c0001t0001g0141 others(11): Show a0001c0001t0001g0077 a0001c0001t0001g0088 a0001c0001t0001g0141 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0202 a0001c0001t0002g0041 a0001c0001t0022g0206	14	206	0.0680	-22	c.115 others(41): Show c.115+10104_115+10125delCACACACACACACACACACACA	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	1/4			chr7	TogoVar
JMJD1C_chr10_63162225_63470977	63263959	TACACACA others(15): Show TACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02895.hp1 HG02897.hp2 others(4): Show HG01081.hp2 HG02895.hp1 HG02897.hp2 HG02970.hp2 HG03139.hp2 HG03579.hp2 NA19043.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0108 a0007c0006t0001g0109 a0007c0006t0001g0110 others(4): Show a0007c0006t0001g0108 a0007c0006t0001g0109 a0007c0006t0001g0110 a0007c0006t0001g0111 a0007c0006t0001g0112 a0007c0006t0001g0114 a0007c0006t0001g0115	7	310	0.0226	-22	c.447 others(37): Show c.447+670_447+691delGTGTGTGTGTGTGTGTGTGTGT	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	3/25			chr10	TogoVar
JMJD1C_chr10_63162225_63470977	63284857	TCACACAC others(15): Show TCACACACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 NA18971.hp1 HG01099.hp1 NA18971.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0268 a0003c0003t0001g0179 a0002c0002t0001g0268 a0003c0003t0001g0179	2	310	0.0065	-22	c.334 others(41): Show c.334-20115_334-20094delTGTGTGTGTGTGTGTGTGTGTG	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	2/25			chr10	TogoVar
JMY_chr5_79231131_79332211	79318753	TATATATA others(15): Show TATATATATAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02895.hp1 HG03486.hp2 HG02486.hp2 HG02895.hp1 HG03486.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0013 a0003c0005t0013	a0003c0005t0013g0202 a0003c0005t0013g0203 a0003c0005t0013g0204 a0003c0005t0013g0202 a0003c0005t0013g0203 a0003c0005t0013g0204	3	342	0.0088	-22	c.3+ others(37): Show c.3+2445_*3+2466delTATATATAGAGAGAGAGAGAGA	JMY	ENSG00000152409.9	transcript	ENST00000396137.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
JMY_chr5_79231131_79332211	79318755	TATATATA others(15): Show TATATATAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00642.hp1 HG01109.hp1 others(17): Show HG00423.hp2 HG00642.hp1 HG01109.hp1 HG01884.hp2 HG01943.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp1 HG02109.hp1 HG02486.hp1 HG03098.hp1 HG03225.hp2 HG03927.hp2 NA18945.hp1 NA18967.hp1 NA18968.hp2 NA19060.hp1 NA19066.hp1 NA19072.hp1 NA19086.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0005 a0004c0003 a0001c0001 a0003c0005 a0004c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0024 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0024 a0001c0001t0027 a0003c0005t0009 a0004c0003t0004	a0001c0001t0002g0218 a0001c0001t0002g0236 a0001c0001t0002g0283 others(17): Show a0001c0001t0002g0218 a0001c0001t0002g0236 a0001c0001t0002g0283 a0001c0001t0002g0290 a0001c0001t0002g0305 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0317 a0001c0001t0002g0321 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0003g0288 a0001c0001t0024g0330 a0001c0001t0027g0266 a0003c0005t0009g0205 a0003c0005t0009g0207 a0004c0003t0004g0171	20	342	0.0585	-22	c.3+ others(37): Show c.3+2447_*3+2468delTATATAGAGAGAGAGAGAGAGA	JMY	ENSG00000152409.9	transcript	ENST00000396137.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
JMY_chr5_79231131_79332211	79318757	TATATAGA others(15): Show TATATAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00423.hp1 others(49): Show HG00140.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00673.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01192.hp1 HG01256.hp1 HG01258.hp1 HG01515.hp2 HG01516.hp1 HG01928.hp2 HG01934.hp1 HG01975.hp1 HG01981.hp2 HG02071.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp1 HG02300.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02809.hp2 HG02818.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG04184.hp1 NA18939.hp1 NA18949.hp1 NA18951.hp1 NA18952.hp2 NA18955.hp1 NA18979.hp2 NA18981.hp1 NA18994.hp1 NA19004.hp1 NA19030.hp1 NA19030.hp2 NA19060.hp2 NA19063.hp2 NA19074.hp1 NA19081.hp2 NA19085.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1	a0001 a0003 a0007 others(3): Show a0001 a0003 a0007 a0009 a0010 a0015	a0001c0001 a0001c0008 a0003c0004 others(5): Show a0001c0001 a0001c0008 a0003c0004 a0003c0010 a0007c0014 a0009c0012 a0010c0017 a0015c0021	a0001c0001t0002 a0001c0001t0003 a0001c0001t0032 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0032 a0001c0001t0035 a0001c0008t0018 a0003c0004t0028 a0003c0010t0017 a0007c0014t0003 a0009c0012t0003 a0010c0017t0020 a0015c0021t0002	a0001c0001t0002g0220 a0001c0001t0002g0238 a0001c0001t0002g0261 others(48): Show a0001c0001t0002g0220 a0001c0001t0002g0238 a0001c0001t0002g0261 a0001c0001t0002g0268 a0001c0001t0002g0275 a0001c0001t0002g0294 a0001c0001t0002g0304 a0001c0001t0002g0306 a0001c0001t0002g0308 a0001c0001t0002g0315 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0326 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0338 a0001c0001t0003g0002 a0001c0001t0003g0210 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0260 a0001c0001t0003g0262 a0001c0001t0003g0264 a0001c0001t0003g0265 a0001c0001t0003g0271 a0001c0001t0003g0280 a0001c0001t0003g0307 a0001c0001t0003g0312 a0001c0001t0032g0339 a0001c0001t0035g0311 a0001c0008t0018g0215 a0001c0008t0018g0216 a0003c0004t0028g0201 a0003c0010t0017g0200 a0007c0014t0003g0269 a0009c0012t0003g0243 a0009c0012t0003g0244 a0010c0017t0020g0041 a0010c0017t0020g0055 a0015c0021t0002g0255	52	342	0.1521	-22	c.3+ others(37): Show c.3+2449_*3+2470delTATAGAGAGAGAGAGAGAGAGA	JMY	ENSG00000152409.9	transcript	ENST00000396137.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
JMY_chr5_79231131_79332211	79318759	TATAGAGA others(15): Show TATAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG01123.hp2 others(37): Show HG00140.hp2 HG00323.hp2 HG01123.hp2 HG01257.hp1 HG02004.hp1 HG02109.hp2 HG02145.hp2 HG02280.hp2 HG02559.hp1 HG02622.hp1 HG02738.hp1 HG03017.hp2 HG03130.hp1 HG03239.hp1 HG03491.hp1 HG03492.hp1 HG03579.hp1 HG03669.hp2 HG03834.hp1 HG03942.hp2 HG04199.hp1 HG04204.hp2 HG06807.hp2 NA18906.hp1 NA18944.hp1 NA18956.hp1 NA18957.hp2 NA18964.hp2 NA18975.hp2 NA18987.hp1 NA18992.hp2 NA18997.hp2 NA18999.hp2 NA19057.hp2 NA19062.hp2 NA19064.hp1 NA19082.hp2 NA19091.hp1 NA20752.hp1 NA21309.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0008 a0001c0011 others(3): Show a0001c0001 a0001c0008 a0001c0011 a0003c0005 a0003c0010 a0007c0014	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0033 a0001c0008t0029 a0001c0011t0016 a0003c0005t0009 a0003c0010t0017 a0003c0010t0037 a0007c0014t0003	a0001c0001t0002g0217 a0001c0001t0002g0221 a0001c0001t0002g0237 others(37): Show a0001c0001t0002g0217 a0001c0001t0002g0221 a0001c0001t0002g0237 a0001c0001t0002g0272 a0001c0001t0002g0276 a0001c0001t0002g0279 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0303 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0316 a0001c0001t0003g0208 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0259 a0001c0001t0003g0263 a0001c0001t0003g0282 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0336 a0001c0001t0006g0225 a0001c0001t0006g0231 a0001c0001t0006g0235 a0001c0001t0033g0281 a0001c0008t0029g0296 a0001c0011t0016g0286 a0001c0011t0016g0287 a0003c0005t0009g0191 a0003c0005t0009g0192 a0003c0005t0009g0194 a0003c0005t0009g0195 a0003c0010t0017g0199 a0003c0010t0037g0198 a0007c0014t0003g0284	40	342	0.1170	-22	c.3+ others(37): Show c.3+2451_*3+2472delTAGAGAGAGAGAGAGAGAGAGA	JMY	ENSG00000152409.9	transcript	ENST00000396137.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
JMY_chr5_79231131_79332211	79318782	AGAGAGAG others(15): Show AGAGAGAGAGAGAGAGAGAGAGG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01106.hp2 HG01255.hp2 others(20): Show HG00621.hp2 HG01106.hp2 HG01255.hp2 HG02148.hp1 HG02165.hp1 HG02451.hp2 HG02622.hp2 HG02809.hp1 HG02976.hp1 HG03704.hp2 HG03831.hp1 NA18942.hp2 NA18947.hp1 NA18965.hp1 NA18979.hp1 NA18995.hp1 NA19065.hp2 NA19067.hp2 NA19084.hp1 NA19085.hp1 NA19240.hp1 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0003c0005t0009 a0003c0005t0026	a0001c0001t0002g0219 a0001c0001t0002g0224 a0001c0001t0002g0270 others(20): Show a0001c0001t0002g0219 a0001c0001t0002g0224 a0001c0001t0002g0270 a0001c0001t0002g0273 a0001c0001t0002g0302 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0006g0209 a0001c0001t0006g0211 a0001c0001t0006g0212 a0001c0001t0006g0226 a0001c0001t0006g0227 a0001c0001t0006g0228 a0001c0001t0006g0229 a0001c0001t0006g0230 a0001c0001t0006g0232 a0001c0001t0006g0233 a0001c0001t0006g0234 a0001c0001t0006g0248 a0001c0001t0006g0337 a0003c0005t0009g0196 a0003c0005t0009g0197 a0003c0005t0026g0193	23	342	0.0673	-22	c.3+ others(37): Show c.3+2475_*3+2496delGAGAGAGAGAGAGAGAGAGGGA	JMY	ENSG00000152409.9	transcript	ENST00000396137.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
JPH2_chr20_44101590_44192188	44134331	TATATAAT others(15): Show TATATAATAAATATTTATTATAA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 NA20905.hp2 HG00280.hp1 NA20905.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0028 a0001c0007t0028	a0001c0007t0028g0238 a0001c0007t0028g0285 a0001c0007t0028g0238 a0001c0007t0028g0285	2	338	0.0059	-22	c.117 others(43): Show c.1170-15730_1170-15709delTTATAATAAATATTTATTATAT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH2_chr20_44101590_44192188	44134592	AAATATAT others(15): Show AAATATATATTTATTATAAATAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02145.hp2 HG02155.hp2 others(6): Show HG00280.hp1 HG02145.hp2 HG02155.hp2 HG02647.hp1 HG02970.hp2 HG03139.hp2 HG03579.hp2 NA19043.hp2 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0007 a0003c0008 a0003c0019 a0001c0007 a0003c0008 a0003c0019	a0001c0007t0024 a0001c0007t0028 a0003c0008t0023 others(3): Show a0001c0007t0024 a0001c0007t0028 a0003c0008t0023 a0003c0008t0034 a0003c0008t0112 a0003c0019t0068	a0001c0007t0024g0087 a0001c0007t0028g0238 a0001c0007t0028g0285 others(6): Show a0001c0007t0024g0087 a0001c0007t0028g0238 a0001c0007t0028g0285 a0003c0008t0023g0036 a0003c0008t0034g0332 a0003c0008t0034g0334 a0003c0008t0034g0335 a0003c0008t0112g0333 a0003c0019t0068g0137	9	338	0.0266	-22	c.117 others(43): Show c.1170-15991_1170-15970delATATTTATAATAAATATATATT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH2_chr20_44101590_44192188	44162745	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0106 a0001c0006t0106	a0001c0006t0106g0322 a0001c0006t0106g0322	1	338	0.0030	-22	c.380 others(39): Show c.380-2360_380-2339delATATATATATATATATATATAT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	1/5			chr20	TogoVar
JPH3_chr16_87597508_87703156	87616190	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02572.hp2 HG02647.hp1 others(3): Show HG01167.hp2 HG02572.hp2 HG02647.hp1 HG02896.hp1 HG02897.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0021 others(1): Show a0001c0002 a0001c0003 a0001c0021 a0001c0024	a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 others(2): Show a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0021t0001 a0001c0024t0001	a0001c0002t0001g0164 a0001c0003t0001g0091 a0001c0003t0002g0163 others(3): Show a0001c0002t0001g0164 a0001c0003t0001g0091 a0001c0003t0002g0163 a0001c0003t0002g0166 a0001c0021t0001g0165 a0001c0024t0001g0168	6	380	0.0158	-22	c.382 others(41): Show c.382+12688_382+12709delGTGTGTGTGTGTGTGTGTGTGT	JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
JRK_chr8_142652460_142674967	142667432	GACACACA others(15): Show GACACACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19079.hp1 NA19057.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0055 a0001c0001t0001 a0001c0001t0055	a0001c0001t0001g0135 a0001c0001t0055g0124 a0001c0001t0001g0135 a0001c0001t0055g0124	2	466	0.0043	-22	c.-46 others(39): Show c.-462-934_-462-913delGTGTGTGTGTGTGTGTGTGTGT	JRK	ENSG00000234616.9	transcript	ENST00000612905.2	protein_coding	1/1			chr8	TogoVar
JUND_chr19_18274694_18286622	18280353	ACCCTCTC others(15): Show ACCCTCTCCAAGTCCGGGGCGCC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0000 a0001c0001t0032g0000	1	408	0.0025	-22	c.66 others(29): Show c.66_*87delGGCGCCCCGGACTTGGAGAGGG	JUND	ENSG00000130522.6	transcript	ENST00000252818.5	protein_coding	1/1	66		chr19	TogoVar
JUP_chr17_41749609_41791711	41784729	GCCCCCAG others(15): Show GCCCCCAGCCTCACTCCCCCATC	G G	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0388 a0001c0001t0001g0388	1	410	0.0024	-22	c.-9+ others(37): Show c.-9+1837_-9+1858delGATGGGGGAGTGAGGCTGGGGG	JUP	ENSG00000173801.17	transcript	ENST00000393931.8	protein_coding	1/13			chr17	TogoVar
KALRN_chr3_124028369_124731325	124287770	GATATATA others(15): Show GATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0067 a0001c0067	a0001c0067t0016 a0001c0067t0016	a0001c0067t0016g0103 a0001c0067t0016g0103	1	116	0.0086	-22	c.970 others(41): Show c.970-10986_970-10965delATATATATATATATATATATAT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	5/59		INFO_REALIGN_3_PRIME	chr3	TogoVar

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