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
ITPR2_chr12_26330352_26838194	26666162	A A	ATAGATAG others(18): Show ATAGATAGATAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG00741.hp1 others(21): Show HG00140.hp1 HG00639.hp1 HG00741.hp1 HG01168.hp2 HG01192.hp2 HG02132.hp2 HG02280.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02895.hp2 HG02897.hp1 HG02970.hp2 HG03209.hp2 HG03453.hp1 HG03486.hp2 HG03540.hp2 NA18747.hp2 NA18956.hp2 NA18964.hp1 NA18970.hp1 NA19090.hp2 NA20805.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0001c0004 others(13): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0012 a0001c0029 a0001c0030 a0001c0042 a0001c0045 a0001c0046 a0002c0010 a0002c0017 a0003c0033 a0003c0047 a0004c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0023 a0001c0003t0033 a0001c0004t0001 a0001c0004t0011 a0001c0004t0048 a0001c0006t0003 a0001c0007t0021 a0001c0012t0006 a0001c0012t0039 a0001c0029t0011 a0001c0030t0004 a0001c0042t0025 a0001c0045t0001 a0001c0046t0002 a0002c0010t0007 a0002c0017t0018 a0003c0033t0034 a0003c0047t0004 a0004c0014t0013	a0001c0001t0001g0021 a0001c0001t0002g0095 a0001c0001t0003g0096 others(21): Show a0001c0001t0001g0021 a0001c0001t0002g0095 a0001c0001t0003g0096 a0001c0003t0023g0135 a0001c0003t0033g0081 a0001c0004t0001g0018 a0001c0004t0011g0128 a0001c0004t0048g0115 a0001c0006t0003g0048 a0001c0007t0021g0117 a0001c0012t0006g0080 a0001c0012t0039g0079 a0001c0029t0011g0130 a0001c0030t0004g0009 a0001c0042t0025g0001 a0001c0045t0001g0098 a0001c0046t0002g0063 a0002c0010t0007g0083 a0002c0017t0018g0108 a0002c0017t0018g0109 a0003c0033t0034g0034 a0003c0047t0004g0076 a0004c0014t0013g0078 a0004c0014t0013g0094	24	142	0.1690	25	c.141 others(42): Show c.1410-112_1410-111insATCTATCTATCTATCTATCTATCTA	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	13/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26784363	C C	CTCTCCCT others(18): Show CTCTCCCTCTCCCTCCACGGTCTCCT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG01496.hp1 others(2): Show HG00642.hp1 HG00642.hp2 HG01496.hp1 HG02630.hp2 HG03486.hp2	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0003 a0001c0004 a0001c0048 others(2): Show a0001c0003 a0001c0004 a0001c0048 a0002c0010 a0011c0067	a0001c0003t0014 a0001c0004t0010 a0001c0048t0012 others(2): Show a0001c0003t0014 a0001c0004t0010 a0001c0048t0012 a0002c0010t0007 a0011c0067t0003	a0001c0003t0014g0038 a0001c0004t0010g0118 a0001c0048t0012g0084 others(2): Show a0001c0003t0014g0038 a0001c0004t0010g0118 a0001c0048t0012g0084 a0002c0010t0007g0083 a0011c0067t0003g0007	5	142	0.0352	25	c.163 others(42): Show c.163+5793_163+5794insAGGAGACCGTGGAGGGAGAGGGAGA	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56			chr12	TogoVar
ITPRIP_chr10_104304700_104343465	104309331	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0008	1	324	0.0031	25	c.50 others(36): Show c.5076_*5077insTATATATATATATATATATATATAT	ITPRIP	ENSG00000148841.17	transcript	ENST00000337478.3	protein_coding		368		chr10	TogoVar
IVD_chr15_40400795_40426308	40405996	G G	GCCCCAAG others(18): Show GCCCCAAGGCCTCCTTCCTGCCTGGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01168.hp2 HG01934.hp2 others(3): Show HG00280.hp1 HG01168.hp2 HG01934.hp2 HG02293.hp1 HG03669.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0042 a0001c0001t0001g0014 a0001c0001t0001g0042	6	378	0.0159	25	c.144 others(38): Show c.144+56_144+80dupAGGCCTCCTTCCTGCCTGGTCCCCA	IVD	ENSG00000128928.10	transcript	ENST00000487418.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
IZUMO3_chr9_24537952_24550897	24546446	C C	CCTTTTCT others(18): Show CCTTTTCTTTTCTTTTCTTTTCTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG01261.hp1 HG02004.hp2 others(1): Show HG00642.hp1 HG01261.hp1 HG02004.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0002t0001g0033 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0002t0001g0033	4	426	0.0094	25	c.-79 others(34): Show c.-798_-797insAAAAGAAAAGAAAAGAAAAGAAAAG	IZUMO3	ENSG00000205442.13	transcript	ENST00000543880.7	protein_coding		550		chr9	TogoVar
JADE3_chrX_46907421_47066242	46923393	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	258	0.0039	25	c.-12 others(44): Show c.-12+10678_-12+10702dupTTTTTTTTTTTTTTTTTTTTTTTTT	JADE3	ENSG00000102221.14	transcript	ENST00000614628.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
JADE3_chrX_46907421_47066242	46926021	A A	AATTTTAT others(18): Show AATTTTATTTTATTTTATTTTATTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02717.hp1 HG02886.hp1 others(1): Show HG02109.hp2 HG02717.hp1 HG02886.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0001 a0001c0001t0004 a0001c0001t0006	a0001c0001t0001g0014 a0001c0001t0004g0230 a0001c0001t0006g0036 others(1): Show a0001c0001t0001g0014 a0001c0001t0004g0230 a0001c0001t0006g0036 a0001c0001t0006g0037	4	258	0.0155	25	c.-12 others(44): Show c.-12+13334_-12+13358dupTTTTATTTTATTTTATTTTATTTTA	JADE3	ENSG00000102221.14	transcript	ENST00000614628.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
JAK2_chr9_4980272_5134948	5062500	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03471.hp2 HG02109.hp1 HG03471.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0011 a0001c0005t0048 a0001c0003t0011 a0001c0005t0048	a0001c0003t0011g0061 a0001c0005t0048g0291 a0001c0003t0011g0061 a0001c0005t0048g0291	2	364	0.0055	25	c.105 others(44): Show c.1057-2376_1057-2352dupAAAAAAAAAAAAAAAAAAAAAAAAA	JAK2	ENSG00000096968.14	transcript	ENST00000381652.4	protein_coding	8/24		INFO_REALIGN_3_PRIME	chr9	TogoVar
JAK2_chr9_4980272_5134948	5131435	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0048 a0001c0004t0006g0048	1	364	0.0028	25	c.46 others(36): Show c.4644_*4645insTTTTTTTTTTTTTTTTTTTTTTTTT	JAK2	ENSG00000096968.14	transcript	ENST00000381652.4	protein_coding		1488		chr9	TogoVar
JAK3_chr19_17819782_17852982	17831993	G G	GGCCAGGT others(18): Show GGCCAGGTGCAGTGGCTCACGCCTGT	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0007 a0002c0018t0007	a0002c0018t0007g0095 a0002c0018t0007g0095	1	414	0.0024	25	c.268 others(42): Show c.2681-220_2681-196dupACAGGCGTGAGCCACTGCACCTGGC	JAK3	ENSG00000105639.21	transcript	ENST00000458235.7	protein_coding	19/23			chr19	TogoVar
JAKMIP1_chr4_6021199_6205549	6126373	A A	ACAAACAC others(18): Show ACAAACACACACCATGCAGAAACACT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02559.hp1 HG03041.hp1 others(2): Show HG02451.hp1 HG02559.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0058 a0001c0001t0001g0190 others(2): Show a0001c0001t0001g0051 a0001c0001t0001g0058 a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0001t0001g0204	5	233	0.0215	25	c.-14 others(46): Show c.-147-13377_-147-13376insAGTGTTTCTGCATGGTGTGTGTTT G	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	1/20			chr4	TogoVar
JAKMIP1_chr4_6021199_6205549	6139770	T T	TATAAAAT others(18): Show TATAAAATAAAATAAAATAAAATAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	233	0.0043	25	c.-14 others(46): Show c.-147-26798_-147-26774dupTTTATTTTATTTTATTTTATTTTA T	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	1/20			chr4	TogoVar
JAKMIP2_chr5_147580438_147787728	147742155	A A	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp1 HG02015.hp2 others(16): Show HG00323.hp1 HG00544.hp1 HG02015.hp2 HG02080.hp2 HG02523.hp2 HG02735.hp1 HG04199.hp2 NA18942.hp2 NA18943.hp1 NA18947.hp1 NA18948.hp1 NA18957.hp1 NA18962.hp2 NA18968.hp1 NA18982.hp2 NA19004.hp2 NA19060.hp1 NA19070.hp2 NA19083.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0004 others(3): Show a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0002c0006 a0002c0013	a0001c0002t0005 a0001c0002t0019 a0001c0003t0018 others(9): Show a0001c0002t0005 a0001c0002t0019 a0001c0003t0018 a0001c0003t0074 a0001c0004t0003 a0001c0004t0021 a0001c0004t0062 a0001c0004t0090 a0001c0008t0001 a0002c0006t0003 a0002c0006t0021 a0002c0013t0077	a0001c0002t0005g0217 a0001c0002t0005g0218 a0001c0002t0005g0224 others(16): Show a0001c0002t0005g0217 a0001c0002t0005g0218 a0001c0002t0005g0224 a0001c0002t0019g0213 a0001c0003t0018g0210 a0001c0003t0074g0228 a0001c0004t0003g0196 a0001c0004t0003g0215 a0001c0004t0003g0231 a0001c0004t0021g0160 a0001c0004t0062g0042 a0001c0004t0090g0199 a0001c0008t0001g0161 a0002c0006t0003g0202 a0002c0006t0003g0208 a0002c0006t0003g0219 a0002c0006t0003g0240 a0002c0006t0021g0112 a0002c0013t0077g0204	19	250	0.0760	25	c.-14 others(46): Show c.-149+40300_-149+40301insAAAAATATATATATATATATATAT A	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP2_chr5_147580438_147787728	147742155	A A	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18974.hp2 NA19002.hp1 others(1): Show NA18945.hp2 NA18974.hp2 NA19002.hp1 NA19065.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0017 a0002c0006 a0001c0003 a0001c0017 a0002c0006	a0001c0003t0034 a0001c0017t0032 a0002c0006t0003 a0001c0003t0034 a0001c0017t0032 a0002c0006t0003	a0001c0003t0034g0159 a0001c0017t0032g0158 a0002c0006t0003g0185 others(1): Show a0001c0003t0034g0159 a0001c0017t0032g0158 a0002c0006t0003g0185 a0002c0006t0003g0221	4	250	0.0160	25	c.-14 others(46): Show c.-149+40300_-149+40301insAAAAAAATATATATATATATATAT A	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP3_chr10_132060946_132189858	132079158	C C	CTGGGAGC others(18): Show CTGGGAGCGGACGGCCTGGGAGCGGA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02015.hp1 HG02027.hp2 others(16): Show HG00597.hp1 HG02015.hp1 HG02027.hp2 HG02074.hp1 HG02132.hp1 HG02258.hp1 HG02451.hp1 HG02523.hp1 HG02615.hp2 HG03225.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 NA18952.hp2 NA18954.hp1 NA18960.hp2 NA18971.hp1 NA18983.hp1 NA19081.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0009	a0001c0001 a0001c0015 a0001c0017 others(9): Show a0001c0001 a0001c0015 a0001c0017 a0001c0034 a0002c0016 a0003c0018 a0003c0021 a0003c0038 a0004c0007 a0004c0033 a0004c0035 a0009c0041	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0015t0001 a0001c0015t0002 a0001c0015t0028 a0001c0017t0003 a0001c0034t0001 a0002c0016t0006 a0003c0018t0002 a0003c0021t0001 a0003c0038t0001 a0004c0007t0002 a0004c0033t0002 a0004c0035t0005 a0009c0041t0029	a0001c0001t0001g0116 a0001c0001t0002g0027 a0001c0001t0003g0102 others(16): Show a0001c0001t0001g0116 a0001c0001t0002g0027 a0001c0001t0003g0102 a0001c0001t0008g0100 a0001c0015t0001g0030 a0001c0015t0002g0018 a0001c0015t0028g0017 a0001c0017t0003g0104 a0001c0034t0001g0021 a0002c0016t0006g0099 a0003c0018t0002g0028 a0003c0021t0001g0022 a0003c0021t0001g0023 a0003c0021t0001g0032 a0003c0038t0001g0024 a0004c0007t0002g0026 a0004c0033t0002g0029 a0004c0035t0005g0020 a0009c0041t0029g0019	19	158	0.1203	25	c.-13 others(46): Show c.-138+13097_-138+13098insTGGGAGCGGACGGCCTGGGAGCGG A	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	1/23			chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132108862	G G	GTATATAA others(18): Show GTATATAAATTATATACGCAAATGTA	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0002 a0004c0009t0002	a0004c0009t0002g0075 a0004c0009t0002g0075	1	158	0.0063	25	c.135 others(42): Show c.135+3935_135+3936insGCAAATGTATATATAAATTATATAC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132108879	A A	ACAAATGT others(18): Show ACAAATGTATATATAAATTATATACG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp2 HG01891.hp2 others(15): Show HG00423.hp2 HG00597.hp2 HG01891.hp2 HG02074.hp1 HG02074.hp2 HG02129.hp2 HG02647.hp1 HG02717.hp1 HG03017.hp2 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 NA18944.hp2 NA18960.hp1 NA18983.hp1 NA18999.hp2 NA19091.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0042 a0002c0008 others(4): Show a0001c0001 a0001c0042 a0002c0008 a0003c0002 a0003c0018 a0004c0007 a0004c0043	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0021 a0001c0042t0023 a0002c0008t0018 a0003c0002t0001 a0003c0002t0002 a0003c0018t0002 a0004c0007t0001 a0004c0007t0002 a0004c0043t0005	a0001c0001t0001g0116 a0001c0001t0002g0027 a0001c0001t0002g0105 others(15): Show a0001c0001t0001g0116 a0001c0001t0002g0027 a0001c0001t0002g0105 a0001c0001t0002g0146 a0001c0001t0002g0156 a0001c0001t0008g0142 a0001c0001t0021g0119 a0001c0042t0023g0126 a0002c0008t0018g0120 a0003c0002t0001g0013 a0003c0002t0001g0112 a0003c0002t0001g0113 a0003c0002t0002g0111 a0003c0018t0002g0117 a0004c0007t0001g0108 a0004c0007t0001g0122 a0004c0007t0002g0121 a0004c0043t0005g0125	18	158	0.1139	25	c.135 others(42): Show c.135+4026_135+4050dupAATTATATACGCAAATGTATATATA	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132108960	G G	GTATATAT others(18): Show GTATATATAAATTATATACGCAAATA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02027.hp2 HG02132.hp1 others(11): Show HG00597.hp1 HG02027.hp2 HG02132.hp1 HG02135.hp1 HG02280.hp2 HG02523.hp1 HG02615.hp2 HG03491.hp2 HG03492.hp2 HG03834.hp1 NA18952.hp2 NA18954.hp1 NA18960.hp2 NA19081.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0008 a0009	a0001c0015 a0001c0034 a0001c0040 others(6): Show a0001c0015 a0001c0034 a0001c0040 a0003c0021 a0003c0038 a0004c0033 a0004c0035 a0008c0039 a0009c0041	a0001c0015t0001 a0001c0015t0002 a0001c0015t0005 others(9): Show a0001c0015t0001 a0001c0015t0002 a0001c0015t0005 a0001c0015t0028 a0001c0034t0001 a0001c0040t0002 a0003c0021t0001 a0003c0038t0001 a0004c0033t0002 a0004c0035t0005 a0008c0039t0002 a0009c0041t0029	a0001c0015t0001g0030 a0001c0015t0002g0018 a0001c0015t0005g0140 others(11): Show a0001c0015t0001g0030 a0001c0015t0002g0018 a0001c0015t0005g0140 a0001c0015t0028g0017 a0001c0034t0001g0021 a0001c0040t0002g0025 a0003c0021t0001g0022 a0003c0021t0001g0023 a0003c0021t0001g0032 a0003c0038t0001g0024 a0004c0033t0002g0029 a0004c0035t0005g0020 a0008c0039t0002g0133 a0009c0041t0029g0019	14	158	0.0886	25	c.135 others(42): Show c.135+4041_135+4042insATATATATAAATTATATACGCAAAT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132159576	C C	CCCTGTGT others(18): Show CCCTGTGTGATGCTGGGGGTCCTCTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01109.hp1 HG01255.hp2 others(4): Show HG00642.hp1 HG01109.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0004 a0005c0012 a0001c0001 a0002c0004 a0005c0012	a0001c0001t0038 a0002c0004t0004 a0005c0012t0007 a0001c0001t0038 a0002c0004t0004 a0005c0012t0007	a0001c0001t0038g0014 a0002c0004t0004g0038 a0002c0004t0004g0040 others(4): Show a0001c0001t0038g0014 a0002c0004t0004g0038 a0002c0004t0004g0040 a0002c0004t0004g0051 a0005c0012t0007g0047 a0005c0012t0007g0048 a0005c0012t0007g0050	7	158	0.0443	25	c.222 others(44): Show c.2221-3615_2221-3614insTCCTCTTCCTGTGTGATGCTGGGGG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132159705	C C	CCTGTGTG others(18): Show CCTGTGTGATGCTGGGGGGCCTCTCG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02451.hp1 HG01891.hp2 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0100 a0001c0001t0008g0142 a0001c0001t0008g0100 a0001c0001t0008g0142	2	158	0.0127	25	c.222 others(44): Show c.2221-3487_2221-3486insGCCTCTCGCTGTGTGATGCTGGGGG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132159807	G G	GCTGTGTG others(18): Show GCTGTGTGATGCTGGGGGGCCTCTCC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0032 a0002c0025t0032	a0002c0025t0032g0103 a0002c0025t0032g0103	1	158	0.0063	25	c.222 others(44): Show c.2221-3358_2221-3334dupCCTCTCCCTGTGTGATGCTGGGGGG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132160092	C C	CCTGTGTG others(18): Show CCTGTGTGATGCTGGGGGGCCTCTCG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0002 a0002	a0002c0026 a0002c0026	a0002c0026t0001 a0002c0026t0001	a0002c0026t0001g0106 a0002c0026t0001g0106	1	158	0.0063	25	c.222 others(44): Show c.2221-3106_2221-3105insTGGGGGGCCTCTCGCTGTGTGATGC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132160445	G G	GGGGGCGC others(18): Show GGGGGCGCCTCTTGCTGTGTGATGCT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01981.hp1 HG02027.hp2 HG00642.hp2 HG01981.hp1 HG02027.hp2	a0001 a0003 a0001 a0003	a0001c0013 a0003c0003 a0003c0021 a0001c0013 a0003c0003 a0003c0021	a0001c0013t0001 a0003c0003t0001 a0003c0021t0001 a0001c0013t0001 a0003c0003t0001 a0003c0021t0001	a0001c0013t0001g0094 a0003c0003t0001g0131 a0003c0021t0001g0032 a0001c0013t0001g0094 a0003c0003t0001g0131 a0003c0021t0001g0032	3	158	0.0190	25	c.222 others(44): Show c.2221-2760_2221-2759insCGCCTCTTGCTGTGTGATGCTGGGG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132160811	G G	GGGGGCGT others(18): Show GGGGGCGTGTCTTCCTGTGTGATGCT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG03041.hp2 HG01069.hp2 HG03041.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0082 a0001c0006t0003g0083 a0001c0006t0003g0082 a0001c0006t0003g0083	2	158	0.0127	25	c.222 others(44): Show c.2221-2394_2221-2393insCGTGTCTTCCTGTGTGATGCTGGGG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132160811	G G	GGGGGGGC others(18): Show GGGGGGGCCTCTCACTGTGTGATGCT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02523.hp2 HG02040.hp2 HG02523.hp2	a0003 a0003	a0003c0002 a0003c0003 a0003c0002 a0003c0003	a0003c0002t0001 a0003c0003t0001 a0003c0002t0001 a0003c0003t0001	a0003c0002t0001g0123 a0003c0003t0001g0071 a0003c0002t0001g0123 a0003c0003t0001g0071	2	158	0.0127	25	c.222 others(44): Show c.2221-2392_2221-2391insCCTCTCACTGTGTGATGCTGGGGGG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132160865	G G	GAGGGGGC others(18): Show GAGGGGGCCTCTCCCTGTGTGATGCT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0020 a0003c0002t0020	a0003c0002t0020g0093 a0003c0002t0020g0093	1	158	0.0063	25	c.222 others(44): Show c.2221-2344_2221-2343insAGGGGGCCTCTCCCTGTGTGATGCT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23			chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132160878	C C	CCCTGTGT others(18): Show CCCTGTGTGATGCTGGGGAGCCTCTT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02717.hp1 NA19043.hp1 HG02129.hp1 HG02717.hp1 NA19043.hp1	a0001 a0004 a0001 a0004	a0001c0017 a0004c0011 a0004c0043 a0001c0017 a0004c0011 a0004c0043	a0001c0017t0005 a0004c0011t0001 a0004c0043t0005 a0001c0017t0005 a0004c0011t0001 a0004c0043t0005	a0001c0017t0005g0079 a0004c0011t0001g0136 a0004c0043t0005g0125 a0001c0017t0005g0079 a0004c0011t0001g0136 a0004c0043t0005g0125	3	158	0.0190	25	c.222 others(44): Show c.2221-2319_2221-2318insTGGGGAGCCTCTTCCTGTGTGATGC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132161551	T T	TCTCTCCC others(18): Show TCTCTCCCTGTGTGATGCTGGGGGGC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0100 a0001c0001t0008g0100	1	158	0.0063	25	c.222 others(44): Show c.2221-1634_2221-1633insCCTCTCCCTGTGTGATGCTGGGGGG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132173160	C C	CTCTCTCT others(18): Show CTCTCTCTCTCCCCCTCCTTCCCCCG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0042 a0001c0042	a0001c0042t0023 a0001c0042t0023	a0001c0042t0023g0126 a0001c0042t0023g0126	1	158	0.0063	25	c.11 others(46): Show c.1103+4149_*1103+4150insCCGTCTCTCTCTCCCCCTCCTTCC C	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAM2_chr21_25634258_25722562	25660782	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02280.hp1 HG02155.hp2 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0033 a0001c0001t0002 a0001c0001t0033	a0001c0001t0002g0245 a0001c0001t0033g0102 a0001c0001t0002g0245 a0001c0001t0033g0102	2	328	0.0061	25	c.67+ others(42): Show c.67+20895_67+20896insATATATATATATATATATATATATT	JAM2	ENSG00000154721.15	transcript	ENST00000480456.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
JAM2_chr21_25634258_25722562	25660783	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0274 a0001c0001t0011g0274	1	328	0.0031	25	c.67+ others(42): Show c.67+20895_67+20896insATATATATATATATATATATATATA	JAM2	ENSG00000154721.15	transcript	ENST00000480456.6	protein_coding	1/9			chr21	TogoVar
JAM3_chr11_134064072_134157001	134154619	G G	GCCCCTCC others(18): Show GCCCCTCCTGGGTGGTGCAGCCTCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0332 a0001c0001t0001g0332	1	390	0.0026	25	c.54 others(36): Show c.5438_*5439insCCCCTCCTGGGTGGTGCAGCCTCGC	JAM3	ENSG00000166086.13	transcript	ENST00000299106.9	protein_coding		2619		chr11	TogoVar
JAML_chr11_118188725_118230011	118221246	C C	CCTTTGCA others(18): Show CCTTTGCAAGCTTGAAATGCTCTAAA	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18975.hp2 NA18980.hp1 others(2): Show NA18967.hp2 NA18975.hp2 NA18980.hp1 NA18985.hp2 NA19081.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0043 a0004c0004t0001g0044 a0004c0004t0001g0147 a0004c0004t0001g0043 a0004c0004t0001g0044 a0004c0004t0001g0147	5	374	0.0134	25	c.-21 others(42): Show c.-21+3670_-21+3694dupTTTAGAGCATTTCAAGCTTGCAAAG	JAML	ENSG00000160593.20	transcript	ENST00000356289.10	protein_coding	1/9			chr11	TogoVar
JAZF1_chr7_27825577_28185795	27849774	C C	CACACACA others(18): Show CACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	206	0.0049	25	c.386 others(42): Show c.386-8908_386-8907insTGTGTGTGTGTGTGTGTGTGTGTGT	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	3/4			chr7	TogoVar
JAZF1_chr7_27825577_28185795	28120501	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	206	0.0049	25	c.115 others(44): Show c.115+59937_115+59961dupAAAAAAAAAAAAAAAAAAAAAAAAA	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	1/4			chr7	TogoVar
JCAD_chr10_30007803_30064586	30025535	A A	AAGGGGAG others(18): Show AAGGGGAGGGGAGGGGAGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0052 a0001c0005t0052	a0001c0005t0052g0108 a0001c0005t0052g0108	1	398	0.0025	25	c.404 others(42): Show c.4045+543_4045+567dupCCCCTCCCCTCCCCTCCCCTCCCCT	JCAD	ENSG00000165757.9	transcript	ENST00000375377.2	protein_coding	3/3			chr10	TogoVar
JKAMP_chr14_59479517_59510410	59502751	T T	TTTTTGTT others(18): Show TTTTTGTTTTTTTGTTTTTGTTTTTG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02451.hp2 NA20300.hp2 HG01109.hp1 HG02451.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0120 a0001c0001t0001g0049 a0001c0001t0001g0120	3	358	0.0084	25	c.718 others(42): Show c.718-1099_718-1098insGTTTTTTTGTTTTTGTTTTTGTTTT	JKAMP	ENSG00000050130.18	transcript	ENST00000616435.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
JKAMP_chr14_59479517_59510410	59502751	T T	TTTTTGTT others(18): Show TTTTTGTTTTTTTTTCTTTGTTTTTG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02615.hp2 HG02965.hp1 HG02145.hp1 HG02615.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088	3	358	0.0084	25	c.718 others(42): Show c.718-1099_718-1098insGTTTTTTTTTCTTTGTTTTTGTTTT	JKAMP	ENSG00000050130.18	transcript	ENST00000616435.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
JKAMP_chr14_59479517_59510410	59502751	T T	TTTTTGTT others(18): Show TTTTTGTTTTTTTTTTTTTGTTTTTG	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA19059.hp2 NA19089.hp1 HG01884.hp1 NA19059.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0116 a0001c0001t0001g0134 a0001c0001t0001g0051 a0001c0001t0001g0116 a0001c0001t0001g0134	3	358	0.0084	25	c.718 others(42): Show c.718-1099_718-1098insGTTTTTTTTTTTTTGTTTTTGTTTT	JKAMP	ENSG00000050130.18	transcript	ENST00000616435.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
JKAMP_chr14_59479517_59510410	59502752	T T	TTTTGTTT others(18): Show TTTTGTTTTTTTTTTTTTTGTTTTTG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	358	0.0028	25	c.718 others(42): Show c.718-1099_718-1098insGTTTTTTTTTTTTTTGTTTTTGTTT	JKAMP	ENSG00000050130.18	transcript	ENST00000616435.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
JKAMP_chr14_59479517_59510410	59504472	T T	TTTTTCAC others(18): Show TTTTTCACCTATAATGAACAGTTTTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp2 HG02717.hp2 HG02809.hp1 others(3): Show HG02109.hp2 HG02717.hp2 HG02809.hp1 HG02895.hp2 HG03209.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0047 a0001c0002t0006g0107 a0001c0002t0006g0108 others(2): Show a0001c0002t0006g0047 a0001c0002t0006g0107 a0001c0002t0006g0108 a0001c0002t0006g0109 a0001c0002t0006g0110	6	358	0.0168	25	c.41 others(34): Show c.417_*418insCAGTTTTGTTTTCACCTATAATGAA	JKAMP	ENSG00000050130.18	transcript	ENST00000616435.5	protein_coding	7/7	418	INFO_REALIGN_3_PRIME	chr14	TogoVar
JMJD1C_chr10_63162225_63470977	63277731	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	310	0.0032	25	c.334 others(44): Show c.334-12968_334-12967insAAAAAAAAAAAAAAAAAAAAAAAAA	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	2/25			chr10	TogoVar
JMJD1C_chr10_63162225_63470977	63292144	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18981.hp1 NA18985.hp2 NA18947.hp1 NA18981.hp1 NA18985.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0168 a0003c0003t0001g0170 a0003c0003t0001g0201 a0003c0003t0001g0168 a0003c0003t0001g0170 a0003c0003t0001g0201	3	310	0.0097	25	c.334 others(44): Show c.334-27381_334-27380insAAAAAAAAAAAAAAAAAAAAAAAAA	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	2/25			chr10	TogoVar
JMJD1C_chr10_63162225_63470977	63337624	A A	AAAAGAAA others(18): Show AAAAGAAAAGAAAAGAAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02040.hp2 HG03130.hp2 others(3): Show HG00099.hp2 HG02040.hp2 HG03130.hp2 NA18942.hp1 NA18956.hp1 NA18981.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0164 a0002c0002t0001g0226 a0002c0002t0001g0242 others(3): Show a0002c0002t0001g0164 a0002c0002t0001g0226 a0002c0002t0001g0242 a0003c0003t0001g0192 a0003c0003t0001g0201 a0003c0003t0001g0207	6	310	0.0194	25	c.333 others(44): Show c.333+42693_333+42694insCTTTTCTTTTTCTTTTCTTTTCTTT	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	2/25			chr10	TogoVar
JMJD1C_chr10_63162225_63470977	63337624	A A	AAAAGAAA others(18): Show AAAAGAAAAGAAAAGAAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG03704.hp1 NA19030.hp2 HG00280.hp1 HG03704.hp1 NA19030.hp2	a0004 a0012 a0004 a0012	a0004c0004 a0012c0013 a0004c0004 a0012c0013	a0004c0004t0002 a0012c0013t0002 a0004c0004t0002 a0012c0013t0002	a0004c0004t0002g0009 a0004c0004t0002g0016 a0012c0013t0002g0015 a0004c0004t0002g0009 a0004c0004t0002g0016 a0012c0013t0002g0015	3	310	0.0097	25	c.333 others(44): Show c.333+42693_333+42694insCTTTTTCTTTTCTTTTCTTTTCTTT	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	2/25			chr10	TogoVar
JMJD1C_chr10_63162225_63470977	63387629	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	310	0.0032	25	c.169 others(42): Show c.169-7148_169-7147insAAAAAAAAAAAAAAAAAAAAAAAAA	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	1/25			chr10	TogoVar
JMJD7_chr15_41823092_41842581	41833414	A A	ATATATAT others(18): Show ATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	386	0.0026	25	c.65- others(40): Show c.65-1325_65-1324insATATATATATATATATATATATTTT	JMJD7	ENSG00000243789.11	transcript	ENST00000397299.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
JMJD7_chr15_41823092_41842581	41833414	A A	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0008 a0008	a0008c0017 a0008c0017	a0008c0017t0002 a0008c0017t0002	a0008c0017t0002g0141 a0008c0017t0002g0141	1	386	0.0026	25	c.65- others(40): Show c.65-1325_65-1324insATATATATATATATATATATTTTTT	JMJD7	ENSG00000243789.11	transcript	ENST00000397299.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
JMY_chr5_79231131_79332211	79270387	A A	ATAAAATA others(18): Show ATAAAATATATATTTACATAAATATT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01106.hp1 HG01515.hp1 others(1): Show HG00733.hp2 HG01106.hp1 HG01515.hp1 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0057 a0002c0002t0001g0059 a0002c0002t0001g0060 others(1): Show a0002c0002t0001g0057 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061	4	342	0.0117	25	c.103 others(44): Show c.1033-7466_1033-7442dupATATATTTACATAAATATTTAAAAT	JMY	ENSG00000152409.9	transcript	ENST00000396137.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
JMY_chr5_79231131_79332211	79270498	A A	ATATATTT others(18): Show ATATATTTACATAAATATTTAAAATG	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA19074.hp2 NA18981.hp2 NA19074.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0004 a0004c0003t0010 a0004c0003t0004 a0004c0003t0010	a0004c0003t0004g0163 a0004c0003t0010g0154 a0004c0003t0004g0163 a0004c0003t0010g0154	2	342	0.0059	25	c.103 others(44): Show c.1033-7388_1033-7387insGTATATTTACATAAATATTTAAAAT	JMY	ENSG00000152409.9	transcript	ENST00000396137.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar

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Search Results (Total: 8644 hits)