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
JAG2_chr14_105135995_105173776	105171830	G G	GGTCAGTC others(20): Show GGTCAGTCTCCACCTCCCTGCCCAGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0126 a0003c0003t0003g0126	1	364	0.0028	27	c.-34 others(38): Show c.-3411_-3410insACCCTGGGCAGGGAGGTGGAGACTGAC	JAG2	ENSG00000184916.9	transcript	ENST00000331782.8	protein_coding		3055		chr14	TogoVar
JAK1_chr1_64828229_64971549	64913641	G G	GAGGAAGG others(20): Show GAGGAAGGAAGGAAGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0047 a0001c0002t0002g0047	1	326	0.0031	27	c.-77 others(46): Show c.-77-27301_-77-27300insTCCTTCCTTCCTTCTTCCTTCCTTCC T	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	1/24			chr1	TogoVar
JAK2_chr9_4980272_5134948	5131435	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG03225.hp2 HG03453.hp2 HG02615.hp2 HG03225.hp2 HG03453.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0013 a0001c0003t0030 a0001c0004t0006 a0001c0003t0013 a0001c0003t0030 a0001c0004t0006	a0001c0003t0013g0054 a0001c0003t0030g0208 a0001c0004t0006g0041 a0001c0003t0013g0054 a0001c0003t0030g0208 a0001c0004t0006g0041	3	364	0.0082	27	c.46 others(38): Show c.4644_*4645insTTTTTTTTTTTTTTTTTTTTTTTTTTT	JAK2	ENSG00000096968.14	transcript	ENST00000381652.4	protein_coding		1488		chr9	TogoVar
JAKMIP2_chr5_147580438_147787728	147619378	T T	TACCCATT others(20): Show TACCCATTCTCTTCTTTCCCCATCAAAC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp2 HG01934.hp1 others(31): Show HG01496.hp1 HG01496.hp2 HG01934.hp1 HG02572.hp1 HG02615.hp2 HG02809.hp1 HG03195.hp1 HG03453.hp1 HG03579.hp1 HG03688.hp1 HG03710.hp2 NA18522.hp1 NA18906.hp2 NA18944.hp2 NA18949.hp1 NA18949.hp2 NA18964.hp2 NA18967.hp2 NA18968.hp1 NA18972.hp1 NA18983.hp2 NA18988.hp1 NA18989.hp2 NA18991.hp1 NA19004.hp2 NA19011.hp1 NA19012.hp1 NA19056.hp1 NA19057.hp2 NA19083.hp1 NA19085.hp2 NA19088.hp1 NA19089.hp2 NA19090.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0010 others(1): Show a0001c0001 a0001c0002 a0001c0010 a0003c0014	a0001c0001t0001 a0001c0002t0005 a0001c0002t0008 others(14): Show a0001c0001t0001 a0001c0002t0005 a0001c0002t0008 a0001c0002t0011 a0001c0002t0023 a0001c0002t0033 a0001c0002t0035 a0001c0002t0058 a0001c0002t0059 a0001c0002t0060 a0001c0002t0084 a0001c0002t0085 a0001c0002t0088 a0001c0002t0089 a0001c0010t0064 a0001c0010t0065 a0003c0014t0008	a0001c0001t0001g0105 a0001c0002t0005g0203 a0001c0002t0005g0207 others(31): Show a0001c0001t0001g0105 a0001c0002t0005g0203 a0001c0002t0005g0207 a0001c0002t0005g0211 a0001c0002t0005g0217 a0001c0002t0005g0218 a0001c0002t0005g0224 a0001c0002t0005g0232 a0001c0002t0005g0233 a0001c0002t0005g0234 a0001c0002t0008g0205 a0001c0002t0008g0236 a0001c0002t0008g0237 a0001c0002t0008g0238 a0001c0002t0008g0242 a0001c0002t0011g0087 a0001c0002t0011g0096 a0001c0002t0011g0099 a0001c0002t0011g0100 a0001c0002t0011g0101 a0001c0002t0023g0023 a0001c0002t0023g0050 a0001c0002t0033g0088 a0001c0002t0035g0063 a0001c0002t0058g0090 a0001c0002t0059g0149 a0001c0002t0060g0122 a0001c0002t0084g0239 a0001c0002t0085g0244 a0001c0002t0088g0241 a0001c0002t0089g0216 a0001c0010t0064g0004 a0001c0010t0065g0083 a0003c0014t0008g0206	34	250	0.1360	27	c.214 others(46): Show c.2142+1261_2143-1265dupGTTTGATGGGGAAAGAAGAGAATGGG T	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	18/21			chr5	TogoVar
JAKMIP2_chr5_147580438_147787728	147742155	A A	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02056.hp1 NA18944.hp2 others(2): Show HG00408.hp2 HG02056.hp1 NA18944.hp2 NA18959.hp2 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0039 a0001c0002t0005 a0001c0003t0075 others(1): Show a0001c0001t0039 a0001c0002t0005 a0001c0003t0075 a0001c0004t0006	a0001c0001t0039g0055 a0001c0002t0005g0207 a0001c0002t0005g0211 others(2): Show a0001c0001t0039g0055 a0001c0002t0005g0207 a0001c0002t0005g0211 a0001c0003t0075g0230 a0001c0004t0006g0106	5	250	0.0200	27	c.-14 others(48): Show c.-149+40300_-149+40301insAAAAATATATATATATATATATAT ATA	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP2_chr5_147580438_147787728	147742155	A A	ATATATAT others(20): Show ATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0079	a0001c0001t0079g0235 a0001c0001t0079g0235	1	250	0.0040	27	c.-14 others(48): Show c.-149+40300_-149+40301insAAAAAAAAATATATATATATATAT ATA	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP3_chr10_132060946_132189858	132158940	G G	GTGGGAGG others(20): Show GTGGGAGGGGCATCTTCCTTTGTGATGC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0003 a0003	a0003c0018 a0003c0018	a0003c0018t0003 a0003c0018t0003	a0003c0018t0003g0015 a0003c0018t0003g0015	1	158	0.0063	27	c.222 others(46): Show c.2221-4269_2221-4268insTGGGAGGGGCATCTTCCTTTGTGATG C	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23			chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132159641	G G	GGGGGGTC others(20): Show GGGGGGTCCTCTCCCTATGTGATGCTCA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01256.hp1 HG01258.hp1 HG01106.hp2 HG01256.hp1 HG01258.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0007 a0005c0012t0033 a0005c0012t0007 a0005c0012t0033	a0005c0012t0007g0048 a0005c0012t0007g0050 a0005c0012t0033g0046 a0005c0012t0007g0048 a0005c0012t0007g0050 a0005c0012t0033g0046	3	158	0.0190	27	c.222 others(46): Show c.2221-3563_2221-3562insTCCTCTCCCTATGTGATGCTCAGGGG G	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132159844	T T	TGGGGGAG others(20): Show TGGGGGAGTCTCTTCCTGTGTGATGCTG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0001 a0004c0011t0001	a0004c0011t0001g0134 a0004c0011t0001g0134	1	158	0.0063	27	c.222 others(46): Show c.2221-3360_2221-3359insAGTCTCTTCCTGTGTGATGCTGGGGG G	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132160049	G G	GCTGGTGG others(20): Show GCTGGTGGGGGTCTACTTCTATGTCTTA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0003 a0002c0008t0003	a0002c0008t0003g0008 a0002c0008t0003g0008	1	158	0.0063	27	c.222 others(46): Show c.2221-3159_2221-3158insTGGTGGGGGTCTACTTCTATGTCTTA C	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132160080	G G	GGGAGGGT others(20): Show GGGAGGGTCTATTCCTGTGTCTTATTGA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03130.hp2 HG02922.hp2 HG03130.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0002 a0002c0010t0002	a0002c0010t0002g0157 a0002c0010t0002g0158 a0002c0010t0002g0157 a0002c0010t0002g0158	2	158	0.0127	27	c.222 others(46): Show c.2221-3127_2221-3126insAGGGTCTATTCCTGTGTCTTATTGAG G	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132160341	T T	TGGGGGCG others(20): Show TGGGGGCGTGTCTTTCTGTGTGATGCTG	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0002 a0004c0007t0002	a0004c0007t0002g0121 a0004c0007t0002g0121	1	158	0.0063	27	c.222 others(46): Show c.2221-2864_2221-2863insGCGTGTCTTTCTGTGTGATGCTGGGG G	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132160424	A A	AGCCTCTT others(20): Show AGCCTCTTCCTGTGTGATGCAGGCGGTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA20300.hp1 HG01884.hp2 NA20300.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0009 a0002c0010t0009	a0002c0010t0009g0086 a0002c0010t0009g0089 a0002c0010t0009g0086 a0002c0010t0009g0089	2	158	0.0127	27	c.222 others(46): Show c.2221-2766_2221-2765insAGGCGGTGGCCTCTTCCTGTGTGATG C	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132160495	T T	TGGGGGCG others(20): Show TGGGGGCGTGTCTTTCTGTGTGATGCTG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0001 a0004c0011t0001	a0004c0011t0001g0136 a0004c0011t0001g0136	1	158	0.0063	27	c.222 others(46): Show c.2221-2709_2221-2708insCGTGTCTTTCTGTGTGATGCTGGGGG G	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132160900	C C	CCTCTTCC others(20): Show CCTCTTCCTGTGTGATGCTGGGGGGGGT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02015.hp1 HG02074.hp1 others(13): Show HG00423.hp2 HG02015.hp1 HG02074.hp1 HG02132.hp2 HG02135.hp1 HG02523.hp1 HG02895.hp2 HG02965.hp1 HG04184.hp1 NA18944.hp1 NA18944.hp2 NA18954.hp2 NA18966.hp1 NA18971.hp1 NA18983.hp2 NA19088.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0008	a0001c0001 a0001c0015 a0002c0023 others(7): Show a0001c0001 a0001c0015 a0002c0023 a0003c0003 a0003c0018 a0003c0020 a0004c0007 a0004c0014 a0004c0030 a0008c0039	a0001c0001t0002 a0001c0001t0021 a0001c0015t0002 others(9): Show a0001c0001t0002 a0001c0001t0021 a0001c0015t0002 a0002c0023t0003 a0003c0003t0012 a0003c0018t0002 a0003c0020t0003 a0004c0007t0002 a0004c0007t0012 a0004c0014t0031 a0004c0030t0030 a0008c0039t0002	a0001c0001t0002g0027 a0001c0001t0002g0146 a0001c0001t0002g0156 others(13): Show a0001c0001t0002g0027 a0001c0001t0002g0146 a0001c0001t0002g0156 a0001c0001t0021g0119 a0001c0015t0002g0018 a0002c0023t0003g0073 a0003c0003t0012g0063 a0003c0018t0002g0028 a0003c0020t0003g0068 a0003c0020t0003g0069 a0003c0020t0003g0070 a0004c0007t0002g0026 a0004c0007t0012g0067 a0004c0014t0031g0150 a0004c0030t0030g0084 a0008c0039t0002g0133	16	158	0.1013	27	c.222 others(46): Show c.2221-2291_2221-2290insGGGGGGGGTCTCTTCCTGTGTGATGC T	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132161074	T T	TGGGGGGG others(20): Show TGGGGGGGGGTCTCCCTGTGTGATGCTG	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02280.hp2 HG03927.hp2 HG02040.hp1 HG02280.hp2 HG03927.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0015 a0004c0009 a0001c0001 a0001c0015 a0004c0009	a0001c0001t0002 a0001c0015t0005 a0004c0009t0002 a0001c0001t0002 a0001c0015t0005 a0004c0009t0002	a0001c0001t0002g0105 a0001c0015t0005g0140 a0004c0009t0002g0059 a0001c0001t0002g0105 a0001c0015t0005g0140 a0004c0009t0002g0059	3	158	0.0190	27	c.222 others(46): Show c.2221-2128_2221-2127insGGTCTCCCTGTGTGATGCTGGGGGGG G	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132161577	A A	ATCTCTCC others(20): Show ATCTCTCCCTGTGTGATGCTGGGGGGTG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03098.hp1 NA20300.hp2 HG01243.hp1 HG03098.hp1 NA20300.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0019 a0002c0029 a0004c0011 a0001c0019 a0002c0029 a0004c0011	a0001c0019t0015 a0002c0029t0015 a0004c0011t0040 a0001c0019t0015 a0002c0029t0015 a0004c0011t0040	a0001c0019t0015g0085 a0002c0029t0015g0053 a0004c0011t0040g0060 a0001c0019t0015g0085 a0002c0029t0015g0053 a0004c0011t0040g0060	3	158	0.0190	27	c.222 others(46): Show c.2221-1578_2221-1552dupGTCTCTCCCTGTGTGATGCTGGGGGG T	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132161578	T T	CCTCTCCC others(20): Show CCTCTCCCTGTGTGATGCTGGGGGGGGT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0142 a0001c0001t0008g0142	1	158	0.0063	27	c.222 others(46): Show c.2221-1632_2221-1631insCCTCTCCCTGTGTGATGCTGGGGGGG G	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23			chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132161604	G G	GTCTCTCC others(20): Show GTCTCTCCCTGTGTGATGCTGGGGGGTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00423.hp1 others(42): Show HG00099.hp1 HG00280.hp2 HG00423.hp1 HG00544.hp2 HG00639.hp1 HG00639.hp2 HG01069.hp1 HG01106.hp1 HG01175.hp2 HG01243.hp2 HG01256.hp2 HG01346.hp2 HG01884.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02129.hp1 HG02165.hp1 HG02258.hp2 HG02523.hp2 HG02897.hp1 HG02922.hp1 HG03017.hp2 HG03225.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03834.hp2 HG04184.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18952.hp2 NA18960.hp1 NA18966.hp2 NA18983.hp1 NA18999.hp2 NA19004.hp2 NA19081.hp1 NA19081.hp2 NA19091.hp1 NA20300.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0006 a0001c0013 others(20): Show a0001c0001 a0001c0006 a0001c0013 a0001c0015 a0001c0017 a0001c0019 a0001c0034 a0002c0005 a0002c0008 a0002c0010 a0002c0023 a0002c0037 a0002c0047 a0003c0002 a0003c0003 a0003c0021 a0003c0051 a0004c0007 a0004c0011 a0004c0014 a0004c0027 a0004c0036 a0004c0045	a0001c0001t0001 a0001c0006t0025 a0001c0013t0001 others(23): Show a0001c0001t0001 a0001c0006t0025 a0001c0013t0001 a0001c0013t0016 a0001c0015t0001 a0001c0017t0027 a0001c0019t0001 a0001c0034t0001 a0002c0005t0001 a0002c0005t0010 a0002c0008t0018 a0002c0010t0009 a0002c0023t0001 a0002c0037t0001 a0002c0047t0022 a0003c0002t0001 a0003c0002t0020 a0003c0003t0001 a0003c0021t0001 a0003c0051t0001 a0004c0007t0001 a0004c0011t0001 a0004c0014t0001 a0004c0027t0001 a0004c0036t0001 a0004c0045t0001	a0001c0001t0001g0116 a0001c0006t0025g0153 a0001c0013t0001g0129 others(42): Show a0001c0001t0001g0116 a0001c0006t0025g0153 a0001c0013t0001g0129 a0001c0013t0016g0155 a0001c0015t0001g0030 a0001c0017t0027g0012 a0001c0019t0001g0152 a0001c0034t0001g0021 a0002c0005t0001g0016 a0002c0005t0001g0049 a0002c0005t0010g0061 a0002c0005t0010g0095 a0002c0008t0018g0120 a0002c0010t0009g0086 a0002c0010t0009g0087 a0002c0010t0009g0089 a0002c0023t0001g0058 a0002c0037t0001g0139 a0002c0047t0022g0045 a0003c0002t0001g0001 a0003c0002t0001g0013 a0003c0002t0001g0034 a0003c0002t0001g0109 a0003c0002t0001g0110 a0003c0002t0001g0112 a0003c0002t0001g0113 a0003c0002t0001g0123 a0003c0002t0020g0093 a0003c0003t0001g0064 a0003c0003t0001g0071 a0003c0003t0001g0077 a0003c0021t0001g0022 a0003c0021t0001g0023 a0003c0021t0001g0032 a0003c0051t0001g0004 a0004c0007t0001g0108 a0004c0007t0001g0122 a0004c0011t0001g0118 a0004c0011t0001g0134 a0004c0011t0001g0136 a0004c0014t0001g0041 a0004c0014t0001g0074 a0004c0027t0001g0066 a0004c0036t0001g0039 a0004c0045t0001g0090	45	158	0.2848	27	c.222 others(46): Show c.2221-1579_2221-1578insATCTCTCCCTGTGTGATGCTGGGGGG T	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132161631	G G	GTCTCTCC others(20): Show GTCTCTCCCTGTGTGATGCTGGGGGGTA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00597.hp1 others(24): Show HG00423.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG02015.hp1 HG02027.hp1 HG02074.hp1 HG02074.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02165.hp2 HG02523.hp1 HG03927.hp1 HG04184.hp1 NA18944.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18960.hp2 NA18971.hp1 NA18971.hp2 NA18999.hp1 NA19004.hp1 NA19088.hp2 NA19240.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0009	a0001c0001 a0001c0015 a0003c0002 others(9): Show a0001c0001 a0001c0015 a0003c0002 a0003c0003 a0003c0018 a0003c0038 a0004c0007 a0004c0009 a0004c0024 a0004c0028 a0004c0033 a0009c0041	a0001c0001t0002 a0001c0001t0021 a0001c0015t0002 others(14): Show a0001c0001t0002 a0001c0001t0021 a0001c0015t0002 a0001c0015t0028 a0003c0002t0002 a0003c0003t0002 a0003c0003t0012 a0003c0018t0002 a0003c0038t0001 a0004c0007t0002 a0004c0007t0012 a0004c0009t0002 a0004c0009t0010 a0004c0024t0002 a0004c0028t0002 a0004c0033t0002 a0009c0041t0029	a0001c0001t0002g0007 a0001c0001t0002g0027 a0001c0001t0002g0114 others(24): Show a0001c0001t0002g0007 a0001c0001t0002g0027 a0001c0001t0002g0114 a0001c0001t0002g0132 a0001c0001t0002g0146 a0001c0001t0002g0156 a0001c0001t0021g0119 a0001c0015t0002g0018 a0001c0015t0028g0017 a0003c0002t0002g0107 a0003c0002t0002g0111 a0003c0003t0002g0056 a0003c0003t0012g0063 a0003c0018t0002g0028 a0003c0018t0002g0117 a0003c0038t0001g0024 a0004c0007t0002g0026 a0004c0007t0002g0121 a0004c0007t0012g0067 a0004c0009t0002g0054 a0004c0009t0002g0075 a0004c0009t0002g0145 a0004c0009t0010g0055 a0004c0024t0002g0151 a0004c0028t0002g0065 a0004c0033t0002g0029 a0009c0041t0029g0019	27	158	0.1709	27	c.222 others(46): Show c.2221-1470_2221-1444dupATCTCTCCCTGTGTGATGCTGGGGGG T	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132161658	A A	ATCTCTCC others(20): Show ATCTCTCCCTGTGTGATGCTGGGGGGTG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02922.hp2 HG02965.hp1 others(4): Show HG02895.hp2 HG02922.hp2 HG02965.hp1 HG03130.hp2 HG03471.hp1 NA18522.hp2 NA19043.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0013 a0001c0022 a0002c0010 others(3): Show a0001c0013 a0001c0022 a0002c0010 a0004c0014 a0004c0030 a0006c0044	a0001c0013t0024 a0001c0022t0002 a0002c0010t0002 others(3): Show a0001c0013t0024 a0001c0022t0002 a0002c0010t0002 a0004c0014t0031 a0004c0030t0030 a0006c0044t0002	a0001c0013t0024g0078 a0001c0022t0002g0080 a0002c0010t0002g0157 others(4): Show a0001c0013t0024g0078 a0001c0022t0002g0080 a0002c0010t0002g0157 a0002c0010t0002g0158 a0004c0014t0031g0150 a0004c0030t0030g0084 a0006c0044t0002g0031	7	158	0.0443	27	c.222 others(46): Show c.2221-1525_2221-1524insGTCTCTCCCTGTGTGATGCTGGGGGG T	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132161702	G G	GCTGGGGG others(20): Show GCTGGGGGGTATCTCTCCCTGTGTGATA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0072 a0003c0003t0005g0072	1	158	0.0063	27	c.222 others(46): Show c.2221-1481_2221-1480insACTGGGGGGTATCTCTCCCTGTGTGA T	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132161712	A A	ATCTCTCC others(20): Show ATCTCTCCCTGTGTGATGCTGGGGGGTG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02258.hp1 HG02630.hp1 others(5): Show HG01891.hp1 HG02258.hp1 HG02630.hp1 HG02647.hp2 HG02965.hp2 HG03225.hp2 HG03471.hp2 HG06807.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0006 a0001c0017 others(3): Show a0001c0001 a0001c0006 a0001c0017 a0001c0019 a0001c0048 a0004c0014	a0001c0001t0003 a0001c0006t0017 a0001c0017t0003 others(3): Show a0001c0001t0003 a0001c0006t0017 a0001c0017t0003 a0001c0019t0003 a0001c0048t0013 a0004c0014t0013	a0001c0001t0003g0097 a0001c0001t0003g0102 a0001c0006t0017g0154 others(5): Show a0001c0001t0003g0097 a0001c0001t0003g0102 a0001c0006t0017g0154 a0001c0017t0003g0011 a0001c0017t0003g0104 a0001c0019t0003g0081 a0001c0048t0013g0098 a0004c0014t0013g0147	8	158	0.0506	27	c.222 others(46): Show c.2221-1471_2221-1470insGTCTCTCCCTGTGTGATGCTGGGGGG T	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132161762	G G	GGGTATCT others(20): Show GGGTATCTCTCCCTGTGTGATGCTGGGA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0026 a0002c0026	a0002c0026t0026 a0002c0026t0026	a0002c0026t0026g0043 a0002c0026t0026g0043	1	158	0.0063	27	c.222 others(46): Show c.2221-1444_2221-1443insATCTCTCCCTGTGTGATGCTGGGAGG T	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132161794	T T	TCTCTCCC others(20): Show TCTCTCCCTGTGTGATGCTGGGGGGGGC	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0005 a0005	a0005c0050 a0005c0050	a0005c0050t0034 a0005c0050t0034	a0005c0050t0034g0115 a0005c0050t0034g0115	1	158	0.0063	27	c.222 others(46): Show c.2221-1410_2221-1384dupCCCTGTGTGATGCTGGGGGGGGCCTC T	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAM2_chr21_25634258_25722562	25660782	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03516.hp2 NA18981.hp1 HG01884.hp2 HG03516.hp2 NA18981.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0002 a0001c0001t0019 a0004c0007t0025 a0001c0001t0002 a0001c0001t0019 a0004c0007t0025	a0001c0001t0002g0300 a0001c0001t0019g0130 a0004c0007t0025g0131 a0001c0001t0002g0300 a0001c0001t0019g0130 a0004c0007t0025g0131	3	328	0.0092	27	c.67+ others(44): Show c.67+20895_67+20896insATATATATATATATATATATATATATT	JAM2	ENSG00000154721.15	transcript	ENST00000480456.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
JAM2_chr21_25634258_25722562	25660782	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0315 a0001c0001t0019g0315	1	328	0.0031	27	c.67+ others(44): Show c.67+20895_67+20896insATATATATATATATATATATATATTTT	JAM2	ENSG00000154721.15	transcript	ENST00000480456.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
JAM2_chr21_25634258_25722562	25660782	A A	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp2 NA19090.hp1 HG02486.hp1 HG02486.hp2 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0005 a0001c0001t0011 a0002c0003t0007 a0001c0001t0005 a0001c0001t0011 a0002c0003t0007	a0001c0001t0005g0216 a0001c0001t0011g0306 a0002c0003t0007g0145 a0001c0001t0005g0216 a0001c0001t0011g0306 a0002c0003t0007g0145	3	328	0.0092	27	c.67+ others(44): Show c.67+20895_67+20896insATATATATATATATATATATTTTTTTT	JAM2	ENSG00000154721.15	transcript	ENST00000480456.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
JAM2_chr21_25634258_25722562	25666315	T T	TTTATTAT others(20): Show TTTATTATTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18995.hp2 NA18972.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0296 a0001c0001t0011g0274 a0001c0001t0001g0296 a0001c0001t0011g0274	2	328	0.0061	27	c.68- others(44): Show c.68-17542_68-17541insATTATTATTATTATTATTATTATTATT	JAM2	ENSG00000154721.15	transcript	ENST00000480456.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
JCHAIN_chr4_70650541_70671508	70667040	A A	ATATTTTG others(20): Show ATATTTTGTATATATCTCACAAAATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02559.hp2 HG02572.hp2 others(1): Show HG01884.hp2 HG02559.hp2 HG02572.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0037 a0001c0001t0008g0038 a0001c0001t0008g0037 a0001c0001t0008g0038	4	366	0.0109	27	c.-57 others(36): Show c.-577_-551dupCATATTTTGTGAGATATATACAAAATA	JCHAIN	ENSG00000132465.12	transcript	ENST00000254801.9	protein_coding		533		chr4	TogoVar
JCHAIN_chr4_70650541_70671508	70667065	A A	ATGTATTT others(20): Show ATGTATTTTGTATATATCTCACAAAATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG01515.hp1 others(14): Show HG00408.hp2 HG00438.hp2 HG01515.hp1 HG02559.hp1 HG02572.hp1 HG02922.hp2 HG02976.hp1 HG03471.hp2 HG03704.hp1 NA18612.hp2 NA18942.hp1 NA18959.hp1 NA18965.hp1 NA18968.hp2 NA18975.hp1 NA19088.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0030 a0001c0001t0001g0054 a0001c0001t0001g0116 a0001c0001t0002g0005 a0001c0001t0005g0019	17	366	0.0465	27	c.-60 others(36): Show c.-602_-576dupGATTTTGTGAGATATATACAAAATACA	JCHAIN	ENSG00000132465.12	transcript	ENST00000254801.9	protein_coding		558		chr4	TogoVar
JKAMP_chr14_59479517_59510410	59502750	A A	ATTTTTGT others(20): Show ATTTTTGTTTTTTTTTTTTTGTTTTTGT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02622.hp2 HG03471.hp1 others(1): Show HG02109.hp1 HG02622.hp2 HG03471.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 others(1): Show a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140	4	358	0.0112	27	c.718 others(44): Show c.718-1099_718-1098insGTTTTTTTTTTTTTGTTTTTGTTTTTT	JKAMP	ENSG00000050130.18	transcript	ENST00000616435.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
JKAMP_chr14_59479517_59510410	59502750	A A	ATTTTTTT others(20): Show ATTTTTTTTTTGTTTTGTTTTGTTTTGT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0129 a0001c0001t0005g0129	1	358	0.0028	27	c.718 others(44): Show c.718-1094_718-1093insGTTTTGTTTTGTTTTGTTTTTTTTTTT	JKAMP	ENSG00000050130.18	transcript	ENST00000616435.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
JMJD1C_chr10_63162225_63470977	63277731	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	310	0.0032	27	c.334 others(46): Show c.334-12968_334-12967insAAAAAAAAAAAAAAAAAAAAAAAAAA A	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	2/25			chr10	TogoVar
JMJD1C_chr10_63162225_63470977	63292144	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02071.hp2 NA18957.hp2 others(1): Show HG02056.hp1 HG02071.hp2 NA18957.hp2 NA19005.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0183 a0003c0003t0001g0185 a0003c0003t0001g0199 others(1): Show a0003c0003t0001g0183 a0003c0003t0001g0185 a0003c0003t0001g0199 a0003c0003t0001g0200	4	310	0.0129	27	c.334 others(46): Show c.334-27381_334-27380insAAAAAAAAAAAAAAAAAAAAAAAAAA A	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	2/25			chr10	TogoVar
JMJD1C_chr10_63162225_63470977	63337624	A A	AAAAGAAA others(20): Show AAAAGAAAAAGAAAAAGAAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA19043.hp2 HG02622.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0126 a0001c0001t0001g0127	2	310	0.0065	27	c.333 others(46): Show c.333+42693_333+42694insCTTTTCTTTTTCTTTTTCTTTTTCTT T	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	2/25			chr10	TogoVar
JMJD1C_chr10_63162225_63470977	63387629	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	310	0.0032	27	c.169 others(44): Show c.169-7148_169-7147insAAAAAAAAAAAAAAAAAAAAAAAAAAA	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	1/25			chr10	TogoVar
JMJD6_chr17_76713451_76731606	76728412	A A	ATTTGTTT others(20): Show ATTTGTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02886.hp2 HG02717.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0077 a0001c0001t0001g0033 a0001c0001t0001g0077	2	440	0.0046	27	c.-19 others(38): Show c.-1938_-1937insAAAAAAAAAAAAAAAAAAAAAAACAAA	JMJD6	ENSG00000070495.15	transcript	ENST00000397625.9	protein_coding		1807		chr17	TogoVar
JMJD7_chr15_41823092_41842581	41833414	A A	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG03098.hp2 HG01169.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0135 a0001c0001t0003g0094 a0001c0001t0002g0135 a0001c0001t0003g0094	2	386	0.0052	27	c.65- others(42): Show c.65-1325_65-1324insATATATATATATATATATATATTTTTT	JMJD7	ENSG00000243789.11	transcript	ENST00000397299.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
JMJD8_chr16_676670_689334	679989	T T	TGCTGGGG others(20): Show TGCTGGGGGCGGGGCCTCTGCGGATGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	1	364	0.0028	27	c.28 others(38): Show c.2804_*2805insCCCATCCGCAGAGGCCCCGCCCCCAGC	JMJD8	ENSG00000161999.13	transcript	ENST00000609261.6	protein_coding		1680		chr16	TogoVar
JMY_chr5_79231131_79332211	79270614	G G	GTTTATAT others(20): Show GTTTATATAAAATATATTTACATAAATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02622.hp2 HG02809.hp1 others(4): Show HG02109.hp2 HG02622.hp2 HG02809.hp1 HG03579.hp1 NA18906.hp1 NA19240.hp1 NA21309.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0009 a0003c0005t0026 a0003c0005t0009 a0003c0005t0026	a0003c0005t0009g0191 a0003c0005t0009g0192 a0003c0005t0009g0194 others(4): Show a0003c0005t0009g0191 a0003c0005t0009g0192 a0003c0005t0009g0194 a0003c0005t0009g0195 a0003c0005t0009g0196 a0003c0005t0009g0197 a0003c0005t0026g0193	7	342	0.0205	27	c.103 others(46): Show c.1033-7279_1033-7253dupTTACATAAATATTTATATAAAATATA T	JMY	ENSG00000152409.9	transcript	ENST00000396137.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
JPH2_chr20_44101590_44192188	44114954	A A	ACAGAGCA others(20): Show ACAGAGCAGGAACTTCTGGATGGACCTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0158 a0001c0001t0012g0158	1	338	0.0030	27	c.201 others(43): Show c.2011-105_2011-79dupAAGGTCCATCCAGAAGTTCCTGCTCTG	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	4/5			chr20	TogoVar
JPH3_chr16_87597508_87703156	87659374	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0214 a0001c0007t0001g0214	1	380	0.0026	27	c.116 others(48): Show c.1160+14351_1160+14352insAAAAAAAAAAAAAAAAAAAAAAAA AAA	JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
JRK_chr8_142652460_142674967	142670130	G G	GAGAGGCA others(20): Show GAGAGGCAAGGGGGGAGGAGAGAGGCAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0209 a0002c0002t0002g0209	1	466	0.0022	27	c.-66 others(36): Show c.-662_-661insTTGCCTCTCTCCTCCCCCCTTGCCTCT	JRK	ENSG00000234616.9	transcript	ENST00000612905.2	protein_coding		164		chr8	TogoVar
KALRN_chr3_124028369_124731325	124265298	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02897.hp2 others(1): Show HG02896.hp1 HG02897.hp1 HG02897.hp2 HG03516.hp2	a0001 a0006 a0001 a0006	a0001c0008 a0001c0026 a0006c0045 a0001c0008 a0001c0026 a0006c0045	a0001c0008t0004 a0001c0026t0006 a0006c0045t0010 a0001c0008t0004 a0001c0026t0006 a0006c0045t0010	a0001c0008t0004g0021 a0001c0008t0004g0022 a0001c0026t0006g0110 others(1): Show a0001c0008t0004g0021 a0001c0008t0004g0022 a0001c0026t0006g0110 a0006c0045t0010g0077	4	116	0.0345	27	c.456 others(42): Show c.456+622_456+623insTTTTTTTTTTTTTTTTTTTTTTTTTTT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	4/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124286082	C C	CCTTCCTT others(20): Show CCTTCCTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0023 a0001c0005t0001g0023	1	116	0.0086	27	c.970 others(46): Show c.970-12706_970-12705insCCTTCTTTCTTTCTTTCTTTCTTTCT T	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	5/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124580947	A A	AAATAATA others(20): Show AAATAATAATAGTAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0003 a0003	a0003c0076 a0003c0076	a0003c0076t0001 a0003c0076t0001	a0003c0076t0001g0068 a0003c0076t0001g0068	1	116	0.0086	27	c.518 others(48): Show c.5182+17868_5182+17869insGTAATAATAATAATAATAATAATA ATA	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	34/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124642806	G G	GTTGTTTT others(20): Show GTTGTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA19077.hp2 HG00438.hp1 NA19077.hp2	a0001 a0008 a0001 a0008	a0001c0018 a0008c0048 a0001c0018 a0008c0048	a0001c0018t0026 a0008c0048t0003 a0001c0018t0026 a0008c0048t0003	a0001c0018t0026g0073 a0008c0048t0003g0007 a0001c0018t0026g0073 a0008c0048t0003g0007	2	116	0.0172	27	c.566 others(46): Show c.5664+5505_5664+5506insGTTTTTTTTTTTTTTTTTTTTTTTTT T	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	37/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KANK1_chr9_499695_751103	598620	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0199 a0001c0001t0004g0199	1	254	0.0039	27	c.-83 others(46): Show c.-83-78266_-83-78240dupTTTTTTTTTTTTTTTTTTTTTTTTTT T	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
KANSL1_chr17_46024916_46198429	46075446	T T	TGAACCCA others(20): Show TGAACCCAAGTGAGGCACCTGGGTTCAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG01074.hp2 others(19): Show HG00140.hp1 HG00280.hp1 HG01074.hp2 HG01099.hp2 HG01123.hp1 HG01167.hp2 HG01255.hp2 HG01361.hp1 HG01433.hp1 HG01516.hp2 HG01517.hp2 HG01952.hp2 HG02109.hp2 HG02145.hp1 HG02257.hp2 HG02602.hp2 HG02735.hp2 HG02738.hp2 HG03239.hp1 HG03704.hp1 HG04199.hp1 NA19085.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0024 a0003c0004t0025 a0003c0004t0005 a0003c0004t0024 a0003c0004t0025	a0003c0004t0005g0301 a0003c0004t0005g0302 a0003c0004t0005g0303 others(19): Show a0003c0004t0005g0301 a0003c0004t0005g0302 a0003c0004t0005g0303 a0003c0004t0005g0304 a0003c0004t0005g0305 a0003c0004t0005g0306 a0003c0004t0005g0307 a0003c0004t0005g0308 a0003c0004t0005g0309 a0003c0004t0005g0310 a0003c0004t0005g0311 a0003c0004t0005g0312 a0003c0004t0005g0313 a0003c0004t0005g0314 a0003c0004t0005g0315 a0003c0004t0005g0316 a0003c0004t0005g0317 a0003c0004t0005g0318 a0003c0004t0005g0319 a0003c0004t0005g0320 a0003c0004t0024g0300 a0003c0004t0025g0321	22	321	0.0685	27	c.153 others(46): Show c.1533+6994_1533+6995insTTGAACCCAGGTGCCTCACTTGGGTT C	KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	4/14			chr17	TogoVar

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