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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Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ITIH1_chr3_52772599_52797062	52781204	TTTTTTTC others(18): Show TTTTTTTCTTCTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02647.hp1 HG02896.hp2 others(4): Show HG01981.hp1 HG02647.hp1 HG02896.hp2 HG02897.hp2 NA18966.hp2 NA19043.hp1 NA19070.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0002c0011 a0003c0003 others(1): Show a0002c0002 a0002c0011 a0003c0003 a0003c0010	a0002c0002t0001 a0002c0011t0001 a0003c0003t0001 others(1): Show a0002c0002t0001 a0002c0011t0001 a0003c0003t0001 a0003c0010t0001	a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0116 others(3): Show a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0116 a0002c0011t0001g0200 a0003c0003t0001g0199 a0003c0010t0001g0051	7	406	0.0172	-25	c.688 others(40): Show c.688-733_688-709delTTTTCTTCTTCTTCTTCTTCTTCTT	ITIH1	ENSG00000055957.11	transcript	ENST00000273283.7	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITIH1_chr3_52772599_52797062	52781207	TTTTCTTC others(18): Show TTTTCTTCTTCTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0189 a0002c0002t0001g0189	1	406	0.0025	-25	c.688 others(40): Show c.688-730_688-706delTCTTCTTCTTCTTCTTCTTCTTCTT	ITIH1	ENSG00000055957.11	transcript	ENST00000273283.7	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITM2B_chr13_48228206_48275357	48229664	CTCTCTCT others(18): Show CTCTCTCTCTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02572.hp1 HG02723.hp1 others(3): Show HG01884.hp2 HG02572.hp1 HG02723.hp1 HG03516.hp1 NA19043.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0031 a0001c0001t0011 a0001c0001t0031	a0001c0001t0011g0005 a0001c0001t0011g0055 a0001c0001t0031g0005 a0001c0001t0011g0005 a0001c0001t0011g0055 a0001c0001t0031g0005	6	338	0.0178	-25	c.-36 others(36): Show c.-3696_-3672delTCTCTCTCTTTTTTTTTTTTTTTTT	ITM2B	ENSG00000136156.15	transcript	ENST00000647800.2	protein_coding		3541		chr13	TogoVar
ITM2B_chr13_48228206_48275357	48230529	ATTTTAAA others(18): Show ATTTTAAAATTACATGAAAATAATTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02486.hp1 HG02622.hp1 others(21): Show HG02257.hp2 HG02486.hp1 HG02622.hp1 HG02647.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp2 NA19030.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0008 a0001c0001t0015 a0001c0001t0018 others(9): Show a0001c0001t0008 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0027 a0001c0001t0033 a0001c0001t0039 a0001c0001t0043 a0001c0001t0045 a0001c0001t0048 a0001c0001t0054 a0001c0005t0018	a0001c0001t0008g0024 a0001c0001t0008g0025 a0001c0001t0015g0023 others(14): Show a0001c0001t0008g0024 a0001c0001t0008g0025 a0001c0001t0015g0023 a0001c0001t0015g0113 a0001c0001t0015g0114 a0001c0001t0018g0018 a0001c0001t0019g0042 a0001c0001t0019g0109 a0001c0001t0027g0043 a0001c0001t0027g0111 a0001c0001t0033g0043 a0001c0001t0039g0023 a0001c0001t0043g0110 a0001c0001t0045g0126 a0001c0001t0048g0112 a0001c0001t0054g0049 a0001c0005t0018g0018	24	338	0.0710	-25	c.-28 others(36): Show c.-2831_-2807delTTTTAAAATTACATGAAAATAATTT	ITM2B	ENSG00000136156.15	transcript	ENST00000647800.2	protein_coding		2676		chr13	TogoVar
ITPR2_chr12_26330352_26838194	26567963	TATATATT others(18): Show TATATATTATATATATTATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	142	0.0070	-25	c.463 others(44): Show c.4631-6036_4631-6012delTATATATATAATATATATAATATAT	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	34/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26567988	ATATATAT others(18): Show ATATATATATTATATATATTATATAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01070.hp1 HG01074.hp1 others(22): Show HG00642.hp2 HG01070.hp1 HG01074.hp1 HG01081.hp1 HG01192.hp2 HG01346.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02523.hp2 HG02630.hp1 HG02738.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG03130.hp1 HG03453.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03942.hp1 NA20805.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0011	a0001c0001 a0001c0002 a0001c0004 others(16): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0011 a0001c0016 a0001c0024 a0001c0030 a0001c0034 a0001c0044 a0001c0054 a0001c0055 a0001c0065 a0002c0023 a0003c0038 a0003c0047 a0004c0014 a0006c0053 a0011c0067	a0001c0001t0002 a0001c0002t0006 a0001c0002t0007 others(21): Show a0001c0001t0002 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0036 a0001c0004t0001 a0001c0004t0003 a0001c0004t0011 a0001c0005t0015 a0001c0011t0002 a0001c0016t0042 a0001c0024t0010 a0001c0030t0004 a0001c0034t0004 a0001c0044t0001 a0001c0054t0023 a0001c0055t0008 a0001c0065t0024 a0002c0023t0019 a0003c0038t0009 a0003c0047t0004 a0004c0014t0013 a0006c0053t0038 a0011c0067t0003	a0001c0001t0002g0095 a0001c0002t0006g0015 a0001c0002t0007g0014 others(22): Show a0001c0001t0002g0095 a0001c0002t0006g0015 a0001c0002t0007g0014 a0001c0002t0008g0100 a0001c0002t0036g0011 a0001c0004t0001g0018 a0001c0004t0003g0093 a0001c0004t0011g0128 a0001c0005t0015g0051 a0001c0011t0002g0035 a0001c0016t0042g0107 a0001c0024t0010g0124 a0001c0030t0004g0009 a0001c0034t0004g0050 a0001c0044t0001g0067 a0001c0054t0023g0136 a0001c0055t0008g0059 a0001c0065t0024g0141 a0002c0023t0019g0132 a0003c0038t0009g0012 a0003c0047t0004g0076 a0004c0014t0013g0078 a0004c0014t0013g0094 a0006c0053t0038g0075 a0011c0067t0003g0007	25	142	0.1761	-25	c.463 others(44): Show c.4631-6061_4631-6037delATATATAATATATATAATATATATA	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	34/56			chr12	TogoVar
ITPRID1_chr7_31509090_31661504	31599629	CTTTCTTT others(18): Show CTTTCTTTCTTTCTTTCTTTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0004 a0004	a0004c0025 a0004c0025	a0004c0025t0028 a0004c0025t0028	a0004c0025t0028g0226 a0004c0025t0028g0226	1	312	0.0032	-25	c.122 others(46): Show c.1228+16439_1228+16463delTTTCTTTCTTTCTTTCTTTTTCTT T	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	10/14			chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31599634	TTTCTTTC others(18): Show TTTCTTTCTTTCTTTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0009 a0009	a0009c0019 a0009c0019	a0009c0019t0004 a0009c0019t0004	a0009c0019t0004g0040 a0009c0019t0004g0040	1	312	0.0032	-25	c.122 others(46): Show c.1228+16444_1228+16468delTTCTTTCTTTCTTTTTCTTTCTTT C	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	10/14			chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31599637	CTTTCTTT others(18): Show CTTTCTTTCTTTTTCTTTCTTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00558.hp2 others(41): Show HG00408.hp1 HG00423.hp1 HG00558.hp2 HG00673.hp2 HG00733.hp2 HG00741.hp1 HG01168.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01433.hp2 HG01884.hp2 HG01943.hp2 HG02129.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02523.hp1 HG02922.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG03669.hp2 HG03927.hp2 NA18747.hp2 NA18945.hp2 NA18948.hp1 NA18950.hp1 NA18963.hp1 NA18981.hp2 NA18984.hp2 NA18989.hp1 NA18991.hp1 NA18991.hp2 NA18999.hp1 NA18999.hp2 NA19005.hp1 NA19007.hp2 NA19058.hp1 NA19081.hp2 NA19082.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0015 a0016 a0017 a0020	a0001c0002 a0001c0003 a0002c0001 others(8): Show a0001c0002 a0001c0003 a0002c0001 a0002c0004 a0003c0005 a0003c0007 a0003c0008 a0015c0020 a0016c0023 a0017c0048 a0020c0051	a0001c0002t0002 a0001c0002t0003 a0001c0003t0001 others(17): Show a0001c0002t0002 a0001c0002t0003 a0001c0003t0001 a0001c0003t0002 a0001c0003t0020 a0001c0003t0021 a0001c0003t0032 a0002c0001t0001 a0002c0001t0010 a0002c0001t0014 a0002c0001t0015 a0002c0004t0001 a0002c0004t0002 a0003c0005t0003 a0003c0007t0003 a0003c0008t0003 a0015c0020t0003 a0016c0023t0001 a0017c0048t0001 a0020c0051t0001	a0001c0002t0002g0098 a0001c0002t0003g0116 a0001c0003t0001g0005 others(39): Show a0001c0002t0002g0098 a0001c0002t0003g0116 a0001c0003t0001g0005 a0001c0003t0001g0014 a0001c0003t0001g0015 a0001c0003t0001g0016 a0001c0003t0001g0017 a0001c0003t0001g0020 a0001c0003t0001g0039 a0001c0003t0001g0051 a0001c0003t0001g0053 a0001c0003t0001g0054 a0001c0003t0001g0056 a0001c0003t0001g0057 a0001c0003t0001g0071 a0001c0003t0001g0073 a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0003t0001g0078 a0001c0003t0002g0074 a0001c0003t0020g0034 a0001c0003t0021g0079 a0001c0003t0032g0032 a0002c0001t0001g0026 a0002c0001t0001g0183 a0002c0001t0010g0003 a0002c0001t0010g0273 a0002c0001t0014g0272 a0002c0001t0015g0271 a0002c0004t0001g0158 a0002c0004t0002g0255 a0003c0005t0003g0173 a0003c0005t0003g0189 a0003c0005t0003g0206 a0003c0007t0003g0198 a0003c0008t0003g0002 a0015c0020t0003g0193 a0015c0020t0003g0208 a0016c0023t0001g0244 a0016c0023t0001g0259 a0017c0048t0001g0004 a0020c0051t0001g0011	44	312	0.1410	-25	c.122 others(46): Show c.1228+16448_1228+16472delTTCTTTCTTTTTCTTTCTTTCCTT T	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID2_chr2_181886730_181935738	181906149	ACTTTATT others(18): Show ACTTTATTCATTTTCTAGTTTCTTCC	A A	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	292	0.0034	-25	c.141 others(44): Show c.1413+3689_1413+3713delTTCATTTTCTAGTTTCTTCCCTTTA	ITPRID2	ENSG00000138434.17	transcript	ENST00000431877.7	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ITPRIP_chr10_104304700_104343465	104341283	CATTAAGC others(18): Show CATTAAGCTTATAATAAAAAATTAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0047 a0001c0001t0004g0047	1	324	0.0031	-25	c.-30 others(36): Show c.-3076_-3052delTTTAATTTTTTATTATAAGCTTAAT	ITPRIP	ENSG00000148841.17	transcript	ENST00000337478.3	protein_coding		2819		chr10	TogoVar
ITSN1_chr21_33637501_33904861	33866485	CCTCCCCG others(18): Show CCTCCCCGCCCCTCTCCTCTTCACCT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00621.hp2 HG01071.hp1 others(60): Show HG00597.hp1 HG00621.hp2 HG01071.hp1 HG01168.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01516.hp2 HG01928.hp1 HG01934.hp1 HG02027.hp2 HG02040.hp2 HG02129.hp2 HG02135.hp2 HG02155.hp1 HG02523.hp1 HG02523.hp2 HG02615.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02897.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03239.hp1 HG03490.hp1 HG04115.hp1 HG04184.hp2 NA18942.hp2 NA18948.hp2 NA18951.hp2 NA18962.hp1 NA18962.hp2 NA18973.hp1 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18981.hp2 NA18982.hp1 NA18990.hp2 NA18991.hp1 NA18998.hp1 NA19000.hp2 NA19004.hp1 NA19010.hp2 NA19011.hp1 NA19059.hp1 NA19060.hp1 NA19067.hp2 NA19079.hp2 NA19082.hp1 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0016 a0004c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0018 a0001c0001t0020 a0001c0001t0045 a0001c0001t0048 a0001c0001t0050 a0001c0002t0001 a0001c0002t0004 a0001c0002t0017 a0001c0002t0023 a0001c0002t0041 a0001c0005t0003 a0001c0016t0003 a0004c0013t0002	a0001c0001t0001g0007 a0001c0001t0001g0096 a0001c0001t0001g0106 others(60): Show a0001c0001t0001g0007 a0001c0001t0001g0096 a0001c0001t0001g0106 a0001c0001t0001g0188 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0011 a0001c0001t0002g0014 a0001c0001t0002g0018 a0001c0001t0002g0021 a0001c0001t0002g0044 a0001c0001t0002g0048 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0091 a0001c0001t0002g0113 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0135 a0001c0001t0002g0142 a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0211 a0001c0001t0002g0230 a0001c0001t0002g0235 a0001c0001t0003g0026 a0001c0001t0003g0032 a0001c0001t0003g0047 a0001c0001t0003g0049 a0001c0001t0003g0095 a0001c0001t0003g0099 a0001c0001t0003g0112 a0001c0001t0003g0115 a0001c0001t0003g0165 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0186 a0001c0001t0003g0216 a0001c0001t0003g0225 a0001c0001t0018g0154 a0001c0001t0018g0210 a0001c0001t0020g0070 a0001c0001t0045g0067 a0001c0001t0048g0040 a0001c0001t0050g0086 a0001c0002t0001g0054 a0001c0002t0004g0001 a0001c0002t0004g0031 a0001c0002t0004g0082 a0001c0002t0004g0097 a0001c0002t0004g0114 a0001c0002t0004g0123 a0001c0002t0004g0158 a0001c0002t0004g0205 a0001c0002t0017g0012 a0001c0002t0023g0118 a0001c0002t0023g0119 a0001c0002t0041g0111 a0001c0005t0003g0050 a0001c0016t0003g0223 a0004c0013t0002g0203	63	242	0.2603	-25	c.407 others(42): Show c.4075-741_4075-717delGCCCCTCTCCTCTTCACCTCTCCCC	ITSN1	ENSG00000205726.15	transcript	ENST00000381318.8	protein_coding	32/39		INFO_REALIGN_3_PRIME	chr21	TogoVar
ITSN2_chr2_24197864_24365536	24320525	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0218 a0001c0005t0002g0218	1	224	0.0045	-25	c.32- others(40): Show c.32-5326_32-5302delTTTTTTTTTTTTTTTTTTTTTTTTT	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	2/39			chr2	TogoVar
IVD_chr15_40400795_40426308	40405996	GCCCCAAG others(18): Show GCCCCAAGGCCTCCTTCCTGCCTGGT	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01106.hp1 HG01192.hp1 others(14): Show HG00735.hp1 HG01106.hp1 HG01192.hp1 HG01255.hp2 HG01361.hp1 HG01516.hp1 HG01517.hp2 HG01928.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG02015.hp1 HG02273.hp1 HG02486.hp2 NA18943.hp2 NA18978.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0006 a0001c0002t0004 a0001c0001t0003 a0001c0001t0006 a0001c0002t0004	a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0006g0008 others(3): Show a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0006g0008 a0001c0001t0006g0040 a0001c0001t0006g0112 a0001c0002t0004g0041	17	378	0.0450	-25	c.144 others(38): Show c.144+56_144+80delAGGCCTCCTTCCTGCCTGGTCCCCA	IVD	ENSG00000128928.10	transcript	ENST00000487418.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
IVL_chr1_152903546_152916886	152916112	CTCAACTC others(18): Show CTCAACTCTTCTTGCTGTCATTCATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	426	0.0024	-25	c.45 others(36): Show c.4558_*4582delTCAACTCTTCTTGCTGTCATTCATA	IVL	ENSG00000163207.7	transcript	ENST00000368764.4	protein_coding		4227		chr1	TogoVar
IYD_chr6_150364012_150410969	150367965	CTTTCTTT others(18): Show CTTTCTTTCTTTCTTTCTTTCTTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp2 HG02148.hp1 NA18955.hp2 others(4): Show HG02074.hp2 HG02148.hp1 NA18955.hp2 NA18985.hp1 NA18994.hp2 NA19005.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0079 a0001c0001t0001 a0001c0001t0015 a0001c0001t0079	a0001c0001t0001g0007 a0001c0001t0001g0051 a0001c0001t0001g0280 others(4): Show a0001c0001t0001g0007 a0001c0001t0001g0051 a0001c0001t0001g0280 a0001c0001t0001g0301 a0001c0001t0015g0007 a0001c0001t0015g0256 a0001c0001t0079g0286	7	414	0.0169	-25	c.-10 others(36): Show c.-1066_-1042delTTTCTTTCTTTCTTTCTTTCTTTCT	IYD	ENSG00000009765.15	transcript	ENST00000344419.8	protein_coding		1046		chr6	TogoVar
IZUMO3_chr9_24537952_24550897	24542453	TGATCAGA others(18): Show TGATCAGAGGTCAGCCACTAGAGGAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	1	426	0.0024	-25	c.75 others(34): Show c.751_*775delCTCCTCTAGTGGCTGACCTCTGATC	IZUMO3	ENSG00000205442.13	transcript	ENST00000543880.7	protein_coding		498		chr9	TogoVar
JAG1_chr20_10632684_10678999	10669547	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0179 a0001c0005t0006g0179	1	412	0.0024	-25	c.387 others(42): Show c.387+3129_387+3153delTTTTTTTTTTTTTTTTTTTTTTTTT	JAG1	ENSG00000101384.12	transcript	ENST00000254958.10	protein_coding	2/25			chr20	TogoVar
JAG2_chr14_105135995_105173776	105161146	CTGTTGGG others(18): Show CTGTTGGGGGTCTGAGTGAGGTCTGT	C C	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02015.hp1 HG02738.hp2 others(1): Show HG01928.hp1 HG02015.hp1 HG02738.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0203 a0001c0001t0001g0228 others(1): Show a0001c0001t0001g0188 a0001c0001t0001g0203 a0001c0001t0001g0228 a0001c0001t0001g0250	4	364	0.0110	-25	c.418 others(42): Show c.418-3408_418-3384delACAGACCTCACTCAGACCCCCAACA	JAG2	ENSG00000184916.9	transcript	ENST00000331782.8	protein_coding	2/25			chr14	TogoVar
JAG2_chr14_105135995_105173776	105168437	CCGCCCGG others(18): Show CCGCCCGGCCCCGCCGCCGCCGCCCG	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0023 a0002c0002t0023	a0002c0002t0023g0264 a0002c0002t0023g0264	1	364	0.0028	-25	c.-42 others(32): Show c.-42_-18delCGGGCGGCGGCGGCGGGGCCGGGCG	JAG2	ENSG00000184916.9	transcript	ENST00000331782.8	protein_coding	1/26	18		chr14	TogoVar
JAK2_chr9_4980272_5134948	5005083	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG03654.hp1 NA18968.hp1 HG00408.hp1 HG03654.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0001 a0001c0003t0003 a0001c0001t0002 a0001c0003t0001 a0001c0003t0003	a0001c0001t0002g0226 a0001c0003t0001g0092 a0001c0003t0003g0056 a0001c0001t0002g0226 a0001c0003t0001g0092 a0001c0003t0003g0056	3	364	0.0082	-25	c.-25 others(44): Show c.-25-16855_-25-16831delTTTTTTTTTTTTTTTTTTTTTTTTT	JAK2	ENSG00000096968.14	transcript	ENST00000381652.4	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr9	TogoVar
JAK2_chr9_4980272_5134948	5046776	CTAAGAAT others(18): Show CTAAGAATAGCCTTTTGAAAACAGGA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00741.hp2 HG01099.hp2 others(32): Show HG00639.hp2 HG00741.hp2 HG01099.hp2 HG01109.hp2 HG01243.hp1 HG01884.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02572.hp1 HG02615.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp2 HG02976.hp2 HG03098.hp2 HG03195.hp1 HG03225.hp1 HG03471.hp1 HG03486.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA19030.hp1 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0010 a0001c0002 a0001c0004 a0001c0010	a0001c0002t0003 a0001c0002t0006 a0001c0002t0014 others(11): Show a0001c0002t0003 a0001c0002t0006 a0001c0002t0014 a0001c0002t0015 a0001c0002t0016 a0001c0002t0023 a0001c0002t0029 a0001c0002t0042 a0001c0002t0055 a0001c0004t0006 a0001c0004t0031 a0001c0004t0052 a0001c0004t0053 a0001c0010t0006	a0001c0002t0003g0026 a0001c0002t0003g0034 a0001c0002t0006g0012 others(31): Show a0001c0002t0003g0026 a0001c0002t0003g0034 a0001c0002t0006g0012 a0001c0002t0014g0001 a0001c0002t0014g0014 a0001c0002t0014g0015 a0001c0002t0015g0260 a0001c0002t0015g0261 a0001c0002t0015g0262 a0001c0002t0016g0282 a0001c0002t0023g0055 a0001c0002t0023g0358 a0001c0002t0029g0288 a0001c0002t0029g0289 a0001c0002t0042g0022 a0001c0002t0055g0011 a0001c0004t0006g0006 a0001c0004t0006g0036 a0001c0004t0006g0037 a0001c0004t0006g0038 a0001c0004t0006g0039 a0001c0004t0006g0040 a0001c0004t0006g0041 a0001c0004t0006g0045 a0001c0004t0006g0046 a0001c0004t0006g0048 a0001c0004t0006g0049 a0001c0004t0006g0057 a0001c0004t0031g0042 a0001c0004t0031g0043 a0001c0004t0052g0044 a0001c0004t0053g0047 a0001c0010t0006g0013 a0001c0010t0006g0016	35	364	0.0962	-25	c.468 others(42): Show c.468+2259_468+2283delAGAATAGCCTTTTGAAAACAGGATA	JAK2	ENSG00000096968.14	transcript	ENST00000381652.4	protein_coding	5/24		INFO_REALIGN_3_PRIME	chr9	TogoVar
JAK3_chr19_17819782_17852982	17827717	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0087 a0001c0001t0087	a0001c0001t0087g0267 a0001c0001t0087g0267	1	414	0.0024	-25	c.320 others(42): Show c.3208-832_3208-808delTTTTTTTTTTTTTTTTTTTTTTTTT	JAK3	ENSG00000105639.21	transcript	ENST00000458235.7	protein_coding	23/23			chr19	TogoVar
JAKMIP2_chr5_147580438_147787728	147601601	TCAAAACA others(18): Show TCAAAACAAAACAAAACAAAACAAAA	T T	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0065 a0001c0010t0065	a0001c0010t0065g0083 a0001c0010t0065g0083	1	250	0.0040	-25	c.20 others(40): Show c.20+115_*20+139delTTTTGTTTTGTTTTGTTTTGTTTTG	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	21/21			chr5	TogoVar
JAKMIP3_chr10_132060946_132189858	132061168	AGCACACA others(18): Show AGCACACACACACCTGCCGTGACGGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00738.hp2 HG01167.hp2 others(11): Show HG00280.hp2 HG00738.hp2 HG01167.hp2 HG01256.hp2 HG01258.hp2 HG01891.hp1 HG01981.hp2 HG02027.hp1 HG02074.hp2 HG03831.hp1 HG04184.hp2 NA18522.hp1 NA19240.hp2 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0013 a0001c0017 others(5): Show a0001c0001 a0001c0013 a0001c0017 a0002c0008 a0003c0002 a0003c0051 a0004c0007 a0004c0014	a0001c0001t0002 a0001c0001t0006 a0001c0001t0038 others(8): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0038 a0001c0013t0036 a0001c0017t0003 a0001c0017t0027 a0002c0008t0003 a0003c0002t0001 a0003c0051t0001 a0004c0007t0002 a0004c0014t0001	a0001c0001t0002g0007 a0001c0001t0006g0006 a0001c0001t0038g0014 others(11): Show a0001c0001t0002g0007 a0001c0001t0006g0006 a0001c0001t0038g0014 a0001c0013t0036g0005 a0001c0017t0003g0011 a0001c0017t0027g0012 a0002c0008t0003g0008 a0002c0008t0003g0009 a0002c0008t0003g0010 a0003c0002t0001g0003 a0003c0002t0001g0013 a0003c0051t0001g0004 a0004c0007t0002g0121 a0004c0014t0001g0074	14	158	0.0886	-25	c.-50 others(36): Show c.-5030_-5006delGCACACACACACCTGCCGTGACGGC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding		4777		chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132061201	CACACCTG others(18): Show CACACCTGCCGTGACGGCGCACACAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0105 a0001c0001t0002g0105	1	158	0.0063	-25	c.-49 others(36): Show c.-4997_-4973delACACCTGCCGTGACGGCGCACACAT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding		4744		chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132159029	GGGGTCTC others(18): Show GGGGTCTCTTCCTGTGTGATGTCAGA	G G	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0036 a0001c0013t0036	a0001c0013t0036g0005 a0001c0013t0036g0005	1	158	0.0063	-25	c.222 others(44): Show c.2221-4176_2221-4152delTCTCTTCCTGTGTGATGTCAGAGGG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132159621	TCCTCTTC others(18): Show TCCTCTTCCTTTGTGATGCTGGGGGG	T T	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0018 a0002c0008t0018	a0002c0008t0018g0120 a0002c0008t0018g0120	1	158	0.0063	-25	c.222 others(44): Show c.2221-3582_2221-3558delTCCTTTGTGATGCTGGGGGGCCTCT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132159631	TTGTGATG others(18): Show TTGTGATGCTGGGGGGCCTCTCCCTG	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00423.hp1 others(19): Show HG00280.hp1 HG00280.hp2 HG00423.hp1 HG01069.hp1 HG01106.hp1 HG01243.hp2 HG01346.hp2 HG02015.hp2 HG02027.hp2 HG02258.hp2 HG02897.hp1 HG03017.hp2 HG03225.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG04184.hp2 NA18960.hp1 NA18966.hp2 NA18983.hp1 NA19004.hp2 NA19081.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0006 a0001c0019 others(9): Show a0001c0001 a0001c0006 a0001c0019 a0002c0004 a0002c0005 a0002c0023 a0002c0037 a0003c0002 a0003c0003 a0003c0021 a0003c0051 a0004c0027	a0001c0001t0001 a0001c0006t0025 a0001c0019t0001 others(11): Show a0001c0001t0001 a0001c0006t0025 a0001c0019t0001 a0002c0004t0004 a0002c0005t0001 a0002c0005t0010 a0002c0023t0001 a0002c0037t0001 a0003c0002t0001 a0003c0002t0020 a0003c0003t0001 a0003c0021t0001 a0003c0051t0001 a0004c0027t0001	a0001c0001t0001g0116 a0001c0006t0025g0153 a0001c0019t0001g0152 others(19): Show a0001c0001t0001g0116 a0001c0006t0025g0153 a0001c0019t0001g0152 a0002c0004t0004g0141 a0002c0005t0001g0016 a0002c0005t0001g0049 a0002c0005t0010g0061 a0002c0005t0010g0095 a0002c0023t0001g0058 a0002c0037t0001g0139 a0003c0002t0001g0013 a0003c0002t0001g0109 a0003c0002t0001g0110 a0003c0002t0001g0112 a0003c0002t0001g0113 a0003c0002t0020g0093 a0003c0003t0001g0077 a0003c0021t0001g0022 a0003c0021t0001g0023 a0003c0021t0001g0032 a0003c0051t0001g0004 a0004c0027t0001g0066	22	158	0.1392	-25	c.222 others(44): Show c.2221-3562_2221-3538delCCTCTCCCTGTGTGATGCTGGGGGG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132159807	GCTGTGTG others(18): Show GCTGTGTGATGCTGGGGGGCCTCTCC	G G	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18966.hp1 NA19088.hp1 NA18944.hp1 NA18966.hp1 NA19088.hp1	a0003 a0003	a0003c0020 a0003c0020	a0003c0020t0003 a0003c0020t0003	a0003c0020t0003g0068 a0003c0020t0003g0069 a0003c0020t0003g0070 a0003c0020t0003g0068 a0003c0020t0003g0069 a0003c0020t0003g0070	3	158	0.0190	-25	c.222 others(44): Show c.2221-3358_2221-3334delCCTCTCCCTGTGTGATGCTGGGGGG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132161184	GTCTCTTC others(18): Show GTCTCTTCCTGTGTGATGCTGGGGGA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0149 a0001c0006t0003g0149	1	158	0.0063	-25	c.222 others(44): Show c.2221-2024_2221-2000delTCTCTTCCTGTGTGATGCTGGGGGA	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23			chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132187334	CGGCCCGG others(18): Show CGGCCCGGCCCTGCCCGGCCCTGCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01256.hp2 HG02027.hp1 others(10): Show HG01175.hp2 HG01256.hp2 HG02027.hp1 HG02027.hp2 HG02155.hp1 HG02165.hp2 HG02922.hp2 HG03130.hp2 HG03491.hp1 HG03834.hp2 NA18971.hp2 NA19081.hp1 NA19081.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0013 a0001c0015 others(6): Show a0001c0001 a0001c0013 a0001c0015 a0002c0010 a0003c0003 a0003c0021 a0004c0011 a0004c0014 a0004c0028	a0001c0001t0002 a0001c0013t0016 a0001c0015t0001 others(7): Show a0001c0001t0002 a0001c0013t0016 a0001c0015t0001 a0002c0010t0002 a0003c0003t0001 a0003c0003t0002 a0003c0021t0001 a0004c0011t0001 a0004c0014t0001 a0004c0028t0002	a0001c0001t0002g0007 a0001c0001t0002g0132 a0001c0013t0016g0155 others(10): Show a0001c0001t0002g0007 a0001c0001t0002g0132 a0001c0013t0016g0155 a0001c0015t0001g0030 a0002c0010t0002g0157 a0002c0010t0002g0158 a0003c0003t0001g0077 a0003c0003t0002g0056 a0003c0021t0001g0032 a0004c0011t0001g0134 a0004c0014t0001g0041 a0004c0014t0001g0074 a0004c0028t0002g0065	13	158	0.0823	-25	c.60 others(36): Show c.6082_*6106delGGCCCGGCCCTGCCCGGCCCTGCCG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding		2477		chr10	TogoVar
JAM2_chr21_25634258_25722562	25669158	AGCCCACA others(18): Show AGCCCACAAGTTTGAGACCAGCTTGG	A A	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0167 a0001c0002t0003g0167	1	328	0.0031	-25	c.68- others(42): Show c.68-14722_68-14698delCCACAAGTTTGAGACCAGCTTGGGC	JAM2	ENSG00000154721.15	transcript	ENST00000480456.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
JARID2_chr6_15241069_15527042	15416666	TGGGAGAC others(18): Show TGGGAGACCGTGGAAAGAGAGGGAGA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01255.hp2 HG02055.hp1 others(9): Show HG00735.hp2 HG01255.hp2 HG02055.hp1 HG02258.hp2 HG02451.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02896.hp2 HG02897.hp2 HG03225.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0001t0040 a0001c0006t0002 others(1): Show a0001c0001t0002 a0001c0001t0040 a0001c0006t0002 a0001c0006t0010	a0001c0001t0002g0025 a0001c0001t0002g0040 a0001c0001t0002g0093 others(9): Show a0001c0001t0002g0025 a0001c0001t0002g0040 a0001c0001t0002g0093 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0040g0097 a0001c0006t0002g0033 a0001c0006t0002g0100 a0001c0006t0002g0101 a0001c0006t0002g0102 a0001c0006t0002g0108 a0001c0006t0010g0103	12	284	0.0423	-25	c.323 others(42): Show c.323+6314_323+6338delAAAGAGAGGGAGAGGGAGACCGTGG	JARID2	ENSG00000008083.14	transcript	ENST00000341776.7	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
JHY_chr11_122877759_122968862	122925809	AGTTCGAG others(18): Show AGTTCGAGACCAGCCCGGCCAATATG	A A	intron_variant intron_variant	MODIFIER	HG03704.hp1 NA18944.hp1 NA18966.hp1 others(1): Show HG03704.hp1 NA18944.hp1 NA18966.hp1 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0027 a0001c0001t0001g0056 a0001c0001t0001g0143 others(1): Show a0001c0001t0001g0027 a0001c0001t0001g0056 a0001c0001t0001g0143 a0001c0001t0004g0090	4	332	0.0121	-25	c.978 others(40): Show c.978+802_978+826delTCGAGACCAGCCCGGCCAATATGGT	JHY	ENSG00000109944.11	transcript	ENST00000227349.7	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
JMJD1C_chr10_63162225_63470977	63337550	CAAGAAAA others(18): Show CAAGAAAAGAAAAGAAAAGAAAAGAA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01074.hp2 HG01192.hp1 others(27): Show HG00639.hp2 HG01074.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01346.hp1 HG01433.hp1 HG01928.hp2 HG01943.hp1 HG01975.hp1 HG02004.hp2 HG02027.hp1 HG02293.hp1 HG02602.hp1 HG03490.hp1 HG03834.hp2 NA18946.hp2 NA18959.hp1 NA18960.hp1 NA18963.hp2 NA18966.hp2 NA18980.hp2 NA18985.hp1 NA18992.hp1 NA19009.hp2 NA19068.hp2 NA19074.hp2 NA19083.hp2 NA20905.hp2	a0001 a0016 a0001 a0016	a0001c0001 a0016c0033 a0001c0001 a0016c0033	a0001c0001t0001 a0016c0033t0001 a0001c0001t0001 a0016c0033t0001	a0001c0001t0001g0033 a0001c0001t0001g0039 a0001c0001t0001g0044 others(27): Show a0001c0001t0001g0033 a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0106 a0001c0001t0001g0155 a0001c0001t0001g0250 a0016c0033t0001g0057	30	310	0.0968	-25	c.333 others(44): Show c.333+42743_333+42767delTTCTTTTCTTTTCTTTTCTTTTCTT	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	2/25			chr10	TogoVar
JMJD1C_chr10_63162225_63470977	63420851	ACAACAAA others(18): Show ACAACAAAGTACAAAACAAACAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG00733.hp2 others(37): Show HG00140.hp1 HG00639.hp1 HG00733.hp2 HG01109.hp1 HG01123.hp2 HG01192.hp2 HG01433.hp2 HG01884.hp1 HG02280.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03098.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03540.hp2 HG03579.hp1 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA19043.hp2 NA20805.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0016 a0001c0032 others(3): Show a0001c0001 a0001c0016 a0001c0032 a0001c0038 a0002c0002 a0005c0005	a0001c0001t0001 a0001c0001t0004 a0001c0016t0001 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0016t0001 a0001c0032t0001 a0001c0038t0001 a0002c0002t0001 a0005c0005t0001	a0001c0001t0001g0032 a0001c0001t0001g0116 a0001c0001t0001g0124 others(37): Show a0001c0001t0001g0032 a0001c0001t0001g0116 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0004g0001 a0001c0016t0001g0031 a0001c0032t0001g0145 a0001c0038t0001g0128 a0002c0002t0001g0118 a0002c0002t0001g0148 a0005c0005t0001g0117 a0005c0005t0001g0119 a0005c0005t0001g0120 a0005c0005t0001g0121 a0005c0005t0001g0122 a0005c0005t0001g0123 a0005c0005t0001g0129 a0005c0005t0001g0130 a0005c0005t0001g0131 a0005c0005t0001g0146 a0005c0005t0001g0149	40	310	0.1290	-25	c.169 others(44): Show c.169-40394_169-40370delATTTTGTTTGTTTTGTACTTTGTTG	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	1/25			chr10	TogoVar
JMY_chr5_79231131_79332211	79270387	ATAAAATA others(18): Show ATAAAATATATATTTACATAAATATT	A A	intron_variant intron_variant	MODIFIER	HG03927.hp1 NA18955.hp2 NA19063.hp1 HG03927.hp1 NA18955.hp2 NA19063.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0044 a0002c0002t0050 a0002c0002t0001 a0002c0002t0044 a0002c0002t0050	a0002c0002t0001g0092 a0002c0002t0044g0127 a0002c0002t0050g0135 a0002c0002t0001g0092 a0002c0002t0044g0127 a0002c0002t0050g0135	3	342	0.0088	-25	c.103 others(44): Show c.1033-7466_1033-7442delATATATTTACATAAATATTTAAAAT	JMY	ENSG00000152409.9	transcript	ENST00000396137.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
JMY_chr5_79231131_79332211	79270491	ATAAAATA others(18): Show ATAAAATATATATTTACATAAATATT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02738.hp2 HG03041.hp2 others(1): Show HG02723.hp2 HG02738.hp2 HG03041.hp2 NA20129.hp2	a0004 a0016 a0004 a0016	a0004c0003 a0016c0022 a0004c0003 a0016c0022	a0004c0003t0004 a0016c0022t0001 a0004c0003t0004 a0016c0022t0001	a0004c0003t0004g0136 a0004c0003t0004g0137 a0004c0003t0004g0138 others(1): Show a0004c0003t0004g0136 a0004c0003t0004g0137 a0004c0003t0004g0138 a0016c0022t0001g0047	4	342	0.0117	-25	c.103 others(44): Show c.1033-7387_1033-7363delATATATTTACATAAATATTTAAAAT	JMY	ENSG00000152409.9	transcript	ENST00000396137.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
JMY_chr5_79231131_79332211	79270523	ATATATTT others(18): Show ATATATTTACATAAATATTTAAAATG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG03239.hp2 HG03834.hp2 others(2): Show HG00642.hp2 HG03239.hp2 HG03834.hp2 NA18984.hp1 NA18997.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0069 a0002c0002t0001g0081 a0002c0002t0001g0089 others(2): Show a0002c0002t0001g0069 a0002c0002t0001g0081 a0002c0002t0001g0089 a0002c0002t0001g0113 a0002c0002t0001g0118	5	342	0.0146	-25	c.103 others(44): Show c.1033-7321_1033-7297delATTTAAAATGTATATTTACATAAAT	JMY	ENSG00000152409.9	transcript	ENST00000396137.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
JMY_chr5_79231131_79332211	79270626	TATATTTA others(18): Show TATATTTACATAAATATTTATATAAA	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03225.hp1 HG03453.hp1 others(1): Show HG02976.hp2 HG03225.hp1 HG03453.hp1 NA19043.hp2	a0002 a0017 a0002 a0017	a0002c0002 a0017c0024 a0002c0002 a0017c0024	a0002c0002t0019 a0002c0002t0043 a0002c0002t0045 others(1): Show a0002c0002t0019 a0002c0002t0043 a0002c0002t0045 a0017c0024t0019	a0002c0002t0019g0039 a0002c0002t0043g0040 a0002c0002t0045g0045 others(1): Show a0002c0002t0019g0039 a0002c0002t0043g0040 a0002c0002t0045g0045 a0017c0024t0019g0038	4	342	0.0117	-25	c.103 others(44): Show c.1033-7279_1033-7255delTTACATAAATATTTATATAAAATAT	JMY	ENSG00000152409.9	transcript	ENST00000396137.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
JPH2_chr20_44101590_44192188	44134039	TATATATA others(18): Show TATATATAAATATATATTTATTATAA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA18978.hp2 NA18984.hp2 others(1): Show HG00408.hp1 NA18978.hp2 NA18984.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0012 a0001c0001t0009 a0001c0001t0012	a0001c0001t0009g0132 a0001c0001t0009g0133 a0001c0001t0009g0134 others(1): Show a0001c0001t0009g0132 a0001c0001t0009g0133 a0001c0001t0009g0134 a0001c0001t0012g0148	4	338	0.0118	-25	c.117 others(46): Show c.1170-15441_1170-15417delTTATAATAAATATATATTTATATA T	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH2_chr20_44101590_44192188	44134093	TATATTTA others(18): Show TATATTTATTATAAATATATAAATAA	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0165 a0001c0001t0012g0165	1	338	0.0030	-25	c.117 others(46): Show c.1170-15495_1170-15471delTTATTTATATATTTATAATAAATA T	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
KALRN_chr3_124028369_124731325	124726844	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0041 a0001c0003t0001g0041	1	116	0.0086	-25	c.73 others(36): Show c.7375_*7399delAAAAAAAAAAAAAAAAAAAAAAAAA	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding		520		chr3	TogoVar
KANK1_chr9_499695_751103	627359	ACTCCTAG others(18): Show ACTCCTAGCCACAGAGCTTCTGCCCC	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02109.hp1 HG03130.hp1 others(3): Show HG01175.hp1 HG02109.hp1 HG03130.hp1 HG03195.hp2 HG03516.hp1 NA18522.hp2	a0001 a0006 a0009 a0001 a0006 a0009	a0001c0054 a0006c0030 a0009c0008 a0001c0054 a0006c0030 a0009c0008	a0001c0054t0008 a0006c0030t0013 a0009c0008t0006 a0001c0054t0008 a0006c0030t0013 a0009c0008t0006	a0001c0054t0008g0077 a0006c0030t0013g0215 a0009c0008t0006g0087 others(3): Show a0001c0054t0008g0077 a0006c0030t0013g0215 a0009c0008t0006g0087 a0009c0008t0006g0088 a0009c0008t0006g0111 a0009c0008t0006g0218	6	254	0.0236	-25	c.-83 others(44): Show c.-83-49501_-83-49477delTAGCCACAGAGCTTCTGCCCCCTCC	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
KANSL1L_chr2_210016421_210176409	210069789	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00609.hp1 others(42): Show HG00140.hp2 HG00408.hp2 HG00609.hp1 HG00741.hp2 HG01081.hp2 HG01169.hp2 HG01257.hp1 HG01261.hp2 HG01516.hp1 HG02015.hp2 HG02074.hp2 HG02129.hp2 HG02165.hp2 HG02523.hp2 HG02735.hp2 HG03492.hp1 HG03831.hp2 HG03927.hp1 HG04204.hp1 NA18939.hp1 NA18942.hp1 NA18945.hp1 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18957.hp1 NA18965.hp2 NA18967.hp1 NA18968.hp1 NA18969.hp2 NA18971.hp1 NA18975.hp1 NA18983.hp2 NA18984.hp1 NA18990.hp2 NA19000.hp1 NA19070.hp1 NA19072.hp1 NA19082.hp2 NA19087.hp1 NA19088.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0009 a0001c0001 a0005c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0014 a0001c0001t0028 a0005c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0034 a0001c0001t0001g0037 others(41): Show a0001c0001t0001g0001 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0052 a0001c0001t0001g0093 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0186 a0001c0001t0001g0214 a0001c0001t0001g0220 a0001c0001t0001g0239 a0001c0001t0001g0250 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0004g0259 a0001c0001t0004g0260 a0001c0001t0004g0263 a0001c0001t0004g0264 a0001c0001t0007g0270 a0001c0001t0008g0007 a0001c0001t0014g0271 a0001c0001t0014g0272 a0001c0001t0014g0273 a0001c0001t0028g0254 a0005c0009t0001g0126	45	284	0.1585	-25	c.175 others(44): Show c.1755+5738_1755+5762delAAAAAAAAAAAAAAAAAAAAAAAAA	KANSL1L	ENSG00000144445.17	transcript	ENST00000281772.14	protein_coding	6/14			chr2	TogoVar
KANSL1L_chr2_210016421_210176409	210174915	CCTATCCT others(18): Show CCTATCCTATTCTATTCTATTCTATT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG01243.hp2 HG01261.hp2 others(13): Show HG00609.hp1 HG01243.hp2 HG01261.hp2 HG01346.hp2 HG01884.hp2 HG01975.hp2 HG01981.hp1 HG02055.hp2 HG02970.hp1 HG03225.hp1 HG03831.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA19066.hp1 NA20752.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0007 a0001c0001t0021 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0021 a0004c0004t0015	a0001c0001t0001g0042 a0001c0001t0001g0052 a0001c0001t0001g0093 others(13): Show a0001c0001t0001g0042 a0001c0001t0001g0052 a0001c0001t0001g0093 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0124 a0001c0001t0001g0140 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0007g0274 a0001c0001t0007g0275 a0001c0001t0021g0023 a0004c0004t0015g0008 a0004c0004t0015g0009	16	284	0.0563	-25	c.-38 others(36): Show c.-3821_-3797delAATAGAATAGAATAGAATAGGATAG	KANSL1L	ENSG00000144445.17	transcript	ENST00000281772.14	protein_coding		3507		chr2	TogoVar
KANSL1L_chr2_210016421_210176409	210174920	CCTATTCT others(18): Show CCTATTCTATTCTATTCTATTCTATT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0228 a0001c0001t0005g0228	1	284	0.0035	-25	c.-38 others(36): Show c.-3826_-3802delAATAGAATAGAATAGAATAGAATAG	KANSL1L	ENSG00000144445.17	transcript	ENST00000281772.14	protein_coding		3512		chr2	TogoVar
KARS1_chr16_75622724_75652665	75624164	CGGAGTCT others(18): Show CGGAGTCTCGCTCTGTCACCCAGGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	380	0.0026	-25	c.37 others(36): Show c.3706_*3730delAGCCTGGGTGACAGAGCGAGACTCC	KARS1	ENSG00000065427.15	transcript	ENST00000302445.8	protein_coding		3559		chr16	TogoVar
KAT2B_chr3_20035446_20159404	20059699	CATCTCAA others(18): Show CATCTCAAAACAAAAACAAAAACAAA	C C	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	374	0.0027	-25	c.304 others(44): Show c.304-12632_304-12608delTCTCAAAACAAAAACAAAAACAAAA	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr3	TogoVar

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