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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
IGLL5_chr22_22882816_22901111	22888260	G G	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	302	0.0033	0	c.206 others(5): Show c.206+1G>C		IGLL5	ENSG00000254709.8	transcript	ENST00000526893.6	protein_coding	1/2					chr22	TogoVar
IHO1_chr3_49194498_49263106	49197178	GACGGGGT others(3996): Show GACGGGGTTTCACCGTGTTAGCCAGGATGTTCTCAATCTCCTGACCTCGT GATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCA CCATGCCCAGGCCATTTTTACTTAAAAAAAATGTGTTTTAGACAGTCTCG CTCTGTTGCTCAGGCTTCAGTGCAGTGGCATGATCATGGCTCACTCTAAC CTCAAACTCCTGGACTCAAGGGATCCTCCCACCTTGGCCTCCCAAAGTTC TGGGATTACAGGCATGAGCTATGGTGTCCAGCCATGTTTTAATTTTTATA GCTTTATTTAGGTAAAATTAATACATGATAAACTGCACATATTGAAAATG TACAATTTGATGCATTTCGATATATGTATACACCTCTGAAACACTGCCAT CAAGAGAGTAAATATGGCCAGGCGTGGTGGCTCACACCTGTAATCCCAGC ACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCTGGAGTTTGAGAC CAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTA ACTGGGTGTGGTGGCAGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAG GTAGGAGAATCGCTTGAACCTCAGAGGTGGAGGTTGTGGTGAGCCGAGAT TGTGCCATTGCACTCCAGCCTGGGTGAAACTCCTGAGAGTGAAACTCCAT CTCAAAAAAAAAAAAAAAGAAGAAGAAGATAGTAAATATGTTCATCACCC CAAGTTTCCTTCTGCCTAGTCGTAATCTTTCCTTATGGCACTCATTTGCC TCAGGCAATGCCACACCTCTGCTTTCTGTCACTATAGATTAATTTGCATT TTCTCGAATTTTATATAAATGGGATCATACAGTATGTATTCTTTTGTGTT TGGCTTTCACTCAGCGTAATTATTTTGAAATTTATTCATGTTGTTGTATC CATTGTTCATTCCTTTTTATTGCTTAGTAGTTGTCCATTGTATGGATATG CCAAATCTCTCCTCTTGATTTTTTGAATCCATACACAAATCAGGTTTTCA TCCTCACTACATCACTGTAACTGCTCCTACCAAGGTCACTCAAAGTTAAT TCTAACTAATCTTCCCTGAACACATCCGCAGCATTTGTCATAGCTGATCT CTGCCTCCTCTTTGAAGCAGTTCCAAGTGCCTTCCAGAATGCCTCATTCT CCTGGTGTCTTTCCCCGTCTCCTGACCAGGCTTGCTCCAACTCCTTGGCT GCTTTTCCTTCATCTCCAAAGTCCTCTAAACTGGTGTGTCCTGGGGCTGA ATCCAATCTCCTTTCCATTTATACTCCATTGGTGATTGCATCCTGTTTTT GTTTGTTTTTTGAGACAGGGTCTCATTCTGTCGCCCAGGCTGGAGTGTAG TGACGCGATCTCGGCTCACTGCAACCTCTACCTCCCAGGTTCAAACGATC CTCCCGCCTCAGCCTCCGAGTAGCTGGGACCACAGGCATGTGTTACCACG CCGGACTAATTTTTTGTAGAGCTGGGGTTTCGCCATGCTGCCCAGGCTGG TCTCAAGCATGTTTTTTGCTTTCTAAGTCATCTATAAGCACCAGAGGCAG AGTTACATAGATCCTTCCTGCCTACCCGCACTGTCCCTGCCCTCAGGCCA CTCCAGCATCCAGCAGGCCAGAAACCTCAGAAGATTTCTTGCCTCCTTTC TCTTTCCTCCAGGGGCCCGGTTCGATGTCCCCATCTGCCCACGGCGCCTC TCGTGCCAGCTGCTCCGCCTGTCCTGCCCTTGCTCAGACCACCCAAGTAT CATCTGTGCTCTGGCCCCTGGCCACCAGTTCCACCCCACATGCTGTCCTC ACAGGTGGCGCCTTGCCATTCCTGGGGACCAGGGCCTCCTTGTTCTGGTC ATACACAGTGGAGTGTAGGTCGAGCGACAAGTGAGTAGATCTGCATGCCA GGTGGGCCGAGGGTGGCCATTCCGGCGTGAGTGTGGGGGTGTGAGGGAAC GTTGCATGGGGTGCACGTGGGCTGGGTGTGGCGTGCAGCGGTGTGGCGCC AGGCAGGCAGCTTGGCGGGGCCCACAATCAGCGCGGTTGAGACCATTAGT ACGGTTAAAACCGTTAGCTGCCTGTCGCGGCGAGGGCGGGGCCCTGGGGA CTGGACGGAATCCCAGTTGGTCAGAGGAGACCCTGGGGGCGGGGCCGCGC GAGTTGCCGTTAGGACAGTTAAAACCGTTAGCTGCCTGTCGTGGCGGGGC GGGGCCCTGGGACAGGACGGAATCCCTATTGGTCAGAAGAGGACCTGGGG GCGGGGCCGCGCGTGCCGTTGCAGAGGCAGCGGGACGCGGCCACCTCGAA GCCACGTCAGGGCAGCCCCAGGTCGGGCGCGTGCCAGCAGCCAGAGGTGG GGACAGGAGGGCTTTGGGCAGGGTGGGTTGGGGAAAGGCGGGGGGAGGGG CTGAGGAGCCGGATGGGGCCGTGGGTCTGGGTTCAGGATACCAGCGGTCC TCCCGGGCTTTCCCGGGACGTTGGTCTTGTAGTCCCTCCCCTGCCCTTTC TTTCCCTATGGCGATGGCCGCTCTGGCTCTTGAAGGAGGCTTCACTTCCG CGCTTATCCTTGGAGAGCAGTTTTCATCCGATTCGCAGGGGTCCGCGACC TCCTATCCCAGATCCCCGCCTGGAGTTGAGGAGTGAGACCGGGTACGCCC CGGGAGCCAGAGTGAGCGGAGACCCAGAGAAGCCCGCTGGGATTTCTCTT TGATTATGAGTAGGGAAAACCCTGTGAGGCCTCTGGAAAGACATCAGAAG GATTTAGTCTAGGAGCTCAGAGCGTGTCTCCAGGTGGAGAAGAGGCGGAA AATGAGAGAGGCGGCCGGCCATTAGTGTTTGAGGCGGGCCGGTGGCCACA GGGGGCCTGAAGTCTGAGTAAGAGACCTGATTTTTTCTGCTAGAACTTTC TGCAGTGGAGGAACGGGAGGGGCACCTGGAGGGCCTCACATCGCAGCCTC AAGAATCTCGCAGTAGGCCGGCTGCGGTGGCTCACGCCACACTTTGGGAG GCTGAGGCAGGCGGATCTCCTGAGGTCAGGAGCTCGAGACCAGCCTGGCC AACATAGCGAAAACCCGTCTCTACTAAAAATACAAAAATTAGCAGGGCGT GGTGGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAA TCACTAGAACCTGGGAGGCGGAGGTGGCAGTGAGCTGAGATCGCGCCACT GCACTCCAGCCTGGGCGACAGAGTGAGACTCGGTCTCAAAAAAAAAAAAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAAAAG ATTGTCGCAGTAGAGTTGACGACGGTGGTCAGATGAGGTAGTCCATGCCA ATCGGGGCGGTCCTCTCCCCCTCACGTGTTCCTCCCTTGTGTACCCACCC TGCCAGGGCCCTTCCCTTGTATATAGTTCCATTCCTTGCATGCACTCAAC TTTTTCTCCCCTTTTATGCTTCCTTTAATAGGAAAGAGAGTGAGAGGTGA AAGTTTTTAATCTGTGCATTTCAGTTTTCATTTACCTTGGAATGACCGTG TTCCACCTTAGAACGAATACCTCTTCCTTACTAGTGCTGTACTAGCATCT TCAAGGAGAGCTTTAGAGAGATGGGATTTCCATCCTCTGGGAATTTAAAA GCCTATACAGGTAGCATGGAGATAAATACATGTACAAAAGAGAGATGAAC CTGAGTTTGAGTACATCAAGCCCCAGCTGGTTCTTAGACATATTGAGAAT AAGGGTGTACTTACCACAGTTTTTTGTTTTTTTTGAGACGGAGTCTCGCT TTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAAGCT CCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACCACAGGCACCCGCCACCACACCCGGCTAATTTTTTGCATTTTTAGT AGAA	G G	splice_donor_variant others(4): Show splice_donor_variant 5_prime_UTR_truncation exon_loss_variant splice_region_variant intron_variant	HIGH	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0002 a0002c0003t0004g0002	1	196	0.0051	-4003	c.-24 others(14): Show c.-2410_-16+1608del		IHO1	ENSG00000173421.17	transcript	ENST00000452691.7	protein_coding	1/8					chr3	TogoVar
IL17F_chr6_52231681_52249500	52238729	C C	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00438.hp1 NA18942.hp2 NA18969.hp2 others(2): Show HG00438.hp1 NA18942.hp2 NA18969.hp2 NA19006.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0056 a0001c0001t0001g0018 a0001c0001t0001g0056	5	432	0.0116	0	c.254 others(5): Show c.254+1G>T		IL17F	ENSG00000112116.11	transcript	ENST00000336123.5	protein_coding	2/2					chr6	TogoVar
IL21R_chr16_27397174_27457042	27442972	T T	TCCCCCTT others(137): Show TCCCCCTTTCAACGTGACTGTGACCTTCTCAGGACAGTATAATATCTCCT GGCGCTCAGATTACGAAGACCCTGCCTTCTACATGCTGAAGGGCAAGCTT CAGTATGAGCTGCAGTACAGGAACCGGGGAGACCCCTGGGCTGTG	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18522.hp1 NA18522.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0007 a0005c0010t0007	a0005c0010t0007g0230 a0005c0010t0007g0230	1	372	0.0027	144	c.364 others(151): Show c.364_507dupCCCCCTTTCAACGTGACTGTGACCTTCTCAGGACAGTA TAATATCTCCTGGCGCTCAGATTACGAAGACCCTGCCTTCTACATGCTGA AGGGCAAGCTTCAGTATGAGCTGCAGTACAGGAACCGGGGAGACCCCTGG GCTGTG		IL21R	ENSG00000103522.17	transcript	ENST00000337929.8	protein_coding	5/8				INFO_REALIGN_3_PRIME	chr16	TogoVar
IL4I1_chr19_49884654_49901887	49894246	GGAGGGTG others(20): Show GGAGGGTGCAGGCGGTACCCACCTGGTT	G G	splice_donor_variant others(3): Show splice_donor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	HG02523.hp1 HG02523.hp1	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0001 a0005c0015t0001	a0005c0015t0001g0110 a0005c0015t0001g0110	1	428	0.0023	-27	c.562 others(37): Show c.562_567+21delAACCAGGTGGGTACCGCCTGCACCCTC	p.Asn others(13): Show p.Asn188_Gln189del	IL4I1	ENSG00000104951.16	transcript	ENST00000391826.7	protein_coding	5/8		562/1704	188/567		chr19	TogoVar
IL5RA_chr3_3061324_3115374	3092223	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0086 a0001c0001t0059g0086	1	454	0.0022	0	c.994 others(5): Show c.994+1G>A		IL5RA	ENSG00000091181.20	transcript	ENST00000446632.7	protein_coding	9/11					chr3	TogoVar
IQCH_chr15_67249786_67506804	67279510	AAGGTAGG others(3): Show AAGGTAGGTAT	A A	splice_donor_variant others(2): Show splice_donor_variant splice_region_variant intron_variant	HIGH	NA18989.hp2 NA18989.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0007 a0006c0009t0001g0007	1	276	0.0036	-10	c.387 others(22): Show c.387+1_387+10delGTAGGTATAG		IQCH	ENSG00000103599.20	transcript	ENST00000335894.9	protein_coding	4/20				INFO_REALIGN_3_PRIME	chr15	TogoVar
IQCH_chr15_67249786_67506804	67355503	TGGTGTGA others(2019): Show TGGTGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATTGTGCCACT GCACTCCAGCCCGGGCGACAGAGCAAGTCTCCATCTCAAAAAAAAAAAAA AATTAGTAATAACTACCACAAAAGCATACAAGTTTGTCCAGAAAGACAAG GATTTTTTCCTCTCCATTAACTCTGGCAAAATTTACCAAACAGATTTTTC CAGCAGGGAAATTGAGTAGCAAAATAGGCAGTGCATTAGGATACGGTTTT GTAAAAATGCAGACACATTCCTCAAATGCATGTGTCTCATAAAATCCAAG GCCACATGAAATAATAATTTAGTGATAGCATTTCTGCAGACAGCTAAGAA AATTCTTATTGATATCATTAACTGTGGATTAGCCATGTGAAATTACTTAT CCTTGAGATCTTTGTCCTACCAAATTGTATTACAATTTTACTAAAATCCT TTAAAAGTTATGCCCACTTGAAAATTTCTCAGCTGCTATTTTGTTTGAAC ATGGGAATTTAGCCATAAATCTCACTTTTCTGCAAGAACCTGAAAGTTAA ACAAAAATTGTACTGAGTCTGCAGACAATAGGAATAACAAATTTTACTGG TGAATCTGTGGATTCAAAGCAGGCTGAACACAGAATGTGGACTTACCTTC AGAAGTGGGAGAGCAAACTCCAAAGTGGACACCAGGGAAGGAGAGCATAG AACTGAAGGCAAAAACTATACCCTTAAAATGGGGTCTTCATACACTACTG GCCAGGGGATAGTGAGGACTACAAGTCACAGGGAAGCTTGCCGGAAGCCA GGGAAACCAGAGGGTTGTAAAAATGGGTTGATCAAATGCAACAAAGAAAT CCCTTTTGTGAAGGTGAGTTTCACTGAAAAGGCTCTGCTATTTTTCCTAC TCTTTAAAAAAGAGCTGAAGATATTCCTTGCAGCTCAGTTGAGGCAATCT AAGAGAACCAAGTCCTCAAAGTGAGATTCTAAATTATATATTGATATCCT TTACTAGCATGCTGTTTTTGATCAATATCTGTCAATTCCTTCTAAGATTG TTGTTATAGAAAACTAACAGAAAAGGGGGTTGAGCTGAAGGAATTGAGCT GAAAGAAGCCTCACTTCTTTTATTCAATTAACCATTTAAATAAATTTTTT GTTCTCTTTCTTGGGCTGAGTAGTATAAGGATTTTTCTCCCCTGAGAATG TCAGACTTGGGCTTTTGGTAAAGGGCAGTCAGGTTTGCTGCTAGGCAGTA GGAGAGATGTGATTGAGAGCATTATCTAGCATGTGGGCCCATTCTTCCTC GACCATGGGCTAGGTGTGTTCTCTAAAAGTTGTTGCTTATAGACTTAACT AATTTCAAAAATAATCTTTATGGTGCTTTTCACTTGTGTCACTTCCCTCA GTCATTTAAATTTTTTAGAATCTTTTTTTTTACACAATAGAATAGTCCAT ATGTAGCTATGTTAAATCACATTTTACATGAACCTGGGAATCTGGCTATT TAAAGAAATCTTCTAACAAAGCATTTTATAAGACAGATATTACTCTCTAA TTTGCCTGCTTTTAAAATGTGCCTGCTTTTAAAATTTGCCTTTTTATCTA GGCAGTTTGCATAAGGCGGGCTGACTTTGTATTCTAATAGAACTGTTGCC CTCTCATGCTCTTGGCTTCCTTTTGAAGTCAGTGATCATAGCTGTTTCAT TGAATGAATACAGAAAGAAAGGTAGTGAGCGCACAGTGGGTGACAGAGCC ATTTGACTTTCAAGGTGCAAACCCAATAGCATCCAACCAGTGACTCAGCC TCTTCTTCTGGAAAAGGTAACATGTACTATCTTCATCCACAGCCACTTTC ACTATACCTCGGGAACCACCTCCATCTCCAGCAGAAGTGAAGTTCTTTCC CAAGAAACAAAGATCAAAGGTATTTATATTCCTCACTATAGAAAGAAAAT TATTCTTATTTACAGCACTTTCTGTGAGATATTTGGTGATTTACACGTTA TTGAGTTGTACCTTCAACATAGAAATA	T T	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG01081.hp1 HG01081.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0048 a0005c0008t0001g0048	1	276	0.0036	-2026	c.638 others(16): Show c.638-1841_714+108del		IQCH	ENSG00000103599.20	transcript	ENST00000335894.9	protein_coding	7/21					chr15	TogoVar
IRAK1BP1_chr6_78862551_78908102	78897960	G G	GCGGTTGT others(30): Show GCGGTTGTTTATTTATTATATTTTTATTTTTTTTTAAT	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0101 a0001c0002t0101	a0001c0002t0101g0271 a0001c0002t0101g0271	1	346	0.0029	37	c.512 others(48): Show c.512+1_512+2insCGGTTGTTTATTTATTATATTTTTATTTTTTTTT AAT		IRAK1BP1	ENSG00000146243.14	transcript	ENST00000369940.7	protein_coding	3/3					chr6	TogoVar
ISCU_chr12_108557596_108574368	108565432	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02622.hp2 HG02622.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0003 a0005c0009t0003	a0005c0009t0003g0026 a0005c0009t0003g0026	1	446	0.0022	0	c.339 others(5): Show c.339+1G>A		ISCU	ENSG00000136003.16	transcript	ENST00000311893.14	protein_coding	3/4					chr12	TogoVar
ISOC2_chr19_55447985_55466642	55461510	AC AC	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02738.hp2 HG03490.hp2 HG03492.hp2 HG02738.hp2 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0054 a0001c0001t0003g0165 a0001c0001t0001g0054 a0001c0001t0003g0165	3	380	0.0079	-1	c.-4+ others(5): Show c.-4+1delG		ISOC2	ENSG00000063241.8	transcript	ENST00000425675.7	protein_coding	1/5					chr19	TogoVar
ISYNA1_chr19_18429388_18443133	18436682	A A	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0023 a0001c0003t0001g0023	1	308	0.0033	0	c.609 others(5): Show c.609+2T>A		ISYNA1	ENSG00000105655.19	transcript	ENST00000338128.13	protein_coding	5/10					chr19	TogoVar
ITGAE_chr17_3709628_3806188	3756982	A A	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19006.hp2 NA19006.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0099 a0002c0002t0001g0099	1	302	0.0033	0	c.117 others(6): Show c.1171+2T>A		ITGAE	ENSG00000083457.12	transcript	ENST00000263087.9	protein_coding	10/30					chr17	TogoVar
ITGAX_chr16_31350176_31387999	31372510	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0243 a0001c0001t0003g0243	1	350	0.0029	0	c.229 others(6): Show c.2292+1G>A		ITGAX	ENSG00000140678.17	transcript	ENST00000268296.9	protein_coding	18/29					chr16	TogoVar
ITIH1_chr3_52772599_52797062	52783126	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG03704.hp2 HG03704.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0072 a0003c0004t0001g0072	1	406	0.0025	0	c.109 others(6): Show c.1099+1G>A		ITIH1	ENSG00000055957.11	transcript	ENST00000273283.7	protein_coding	9/21					chr3	TogoVar
ITIH2_chr10_7698316_7754520	7709192	G G	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	380	0.0026	0	c.362 others(5): Show c.362+1G>C		ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	4/20					chr10	TogoVar
ITPR2_chr12_26330352_26838194	26681871	T T	TACTC TACTC	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(102): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00639.hp1 HG00642.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02630.hp1 HG02630.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03942.hp1 HG04199.hp1 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18956.hp2 NA18960.hp1 NA18964.hp1 NA18964.hp2 NA18970.hp2 NA18980.hp1 NA19056.hp1 NA19090.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010	a0001c0001 a0001c0002 a0001c0003 others(46): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0011 a0001c0012 a0001c0015 a0001c0016 a0001c0020 a0001c0021 a0001c0022 a0001c0028 a0001c0029 a0001c0030 a0001c0031 a0001c0034 a0001c0035 a0001c0037 a0001c0044 a0001c0045 a0001c0046 a0001c0048 a0001c0049 a0001c0051 a0001c0058 a0001c0059 a0001c0060 a0001c0061 a0001c0062 a0001c0064 a0001c0065 a0002c0009 a0002c0010 a0002c0017 a0002c0023 a0002c0052 a0003c0032 a0003c0033 a0003c0038 a0003c0047 a0004c0014 a0005c0036 a0006c0053 a0007c0050 a0009c0063 a0010c0066	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(90): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0017 a0001c0001t0035 a0001c0001t0052 a0001c0002t0001 a0001c0002t0004 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0017 a0001c0002t0029 a0001c0002t0036 a0001c0002t0040 a0001c0002t0046 a0001c0003t0001 a0001c0003t0014 a0001c0003t0023 a0001c0003t0033 a0001c0004t0001 a0001c0004t0003 a0001c0004t0006 a0001c0004t0010 a0001c0004t0011 a0001c0004t0048 a0001c0005t0002 a0001c0005t0005 a0001c0006t0001 a0001c0006t0003 a0001c0006t0026 a0001c0006t0030 a0001c0007t0001 a0001c0007t0002 a0001c0007t0005 a0001c0007t0021 a0001c0011t0001 a0001c0011t0002 a0001c0011t0008 a0001c0012t0005 a0001c0012t0006 a0001c0012t0039 a0001c0015t0004 a0001c0015t0044 a0001c0016t0003 a0001c0016t0042 a0001c0020t0001 a0001c0020t0032 a0001c0021t0002 a0001c0021t0006 a0001c0022t0002 a0001c0022t0003 a0001c0028t0001 a0001c0028t0010 a0001c0029t0011 a0001c0029t0049 a0001c0030t0004 a0001c0031t0009 a0001c0034t0004 a0001c0035t0027 a0001c0037t0009 a0001c0044t0001 a0001c0045t0001 a0001c0046t0002 a0001c0048t0012 a0001c0049t0028 a0001c0051t0002 a0001c0058t0050 a0001c0059t0002 a0001c0060t0002 a0001c0061t0045 a0001c0062t0020 a0001c0064t0008 a0001c0065t0024 a0002c0009t0001 a0002c0009t0041 a0002c0010t0007 a0002c0010t0012 a0002c0010t0016 a0002c0017t0018 a0002c0023t0019 a0002c0052t0001 a0003c0032t0009 a0003c0033t0034 a0003c0038t0009 a0003c0047t0004 a0004c0014t0013 a0005c0036t0015 a0006c0053t0038 a0007c0050t0003 a0009c0063t0001 a0010c0066t0001	a0001c0001t0001g0021 a0001c0001t0001g0040 a0001c0001t0001g0045 others(102): Show a0001c0001t0001g0021 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0002g0095 a0001c0001t0003g0074 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0096 a0001c0001t0007g0046 a0001c0001t0017g0102 a0001c0001t0035g0053 a0001c0001t0052g0134 a0001c0002t0001g0068 a0001c0002t0001g0071 a0001c0002t0004g0092 a0001c0002t0006g0015 a0001c0002t0007g0014 a0001c0002t0008g0100 a0001c0002t0017g0070 a0001c0002t0029g0072 a0001c0002t0036g0011 a0001c0002t0040g0047 a0001c0002t0046g0123 a0001c0003t0001g0037 a0001c0003t0001g0061 a0001c0003t0014g0038 a0001c0003t0014g0099 a0001c0003t0023g0135 a0001c0003t0033g0081 a0001c0004t0001g0018 a0001c0004t0003g0093 a0001c0004t0006g0058 a0001c0004t0010g0118 a0001c0004t0011g0128 a0001c0004t0048g0115 a0001c0005t0002g0039 a0001c0005t0005g0086 a0001c0006t0001g0060 a0001c0006t0003g0048 a0001c0006t0026g0002 a0001c0006t0030g0030 a0001c0007t0001g0057 a0001c0007t0002g0066 a0001c0007t0005g0041 a0001c0007t0021g0117 a0001c0011t0001g0008 a0001c0011t0002g0035 a0001c0011t0008g0044 a0001c0012t0005g0023 a0001c0012t0006g0080 a0001c0012t0039g0079 a0001c0015t0004g0006 a0001c0015t0044g0106 a0001c0016t0003g0032 a0001c0016t0042g0107 a0001c0020t0001g0085 a0001c0020t0032g0062 a0001c0021t0002g0043 a0001c0021t0006g0033 a0001c0022t0002g0004 a0001c0022t0003g0082 a0001c0028t0001g0010 a0001c0028t0010g0125 a0001c0029t0011g0130 a0001c0029t0049g0121 a0001c0030t0004g0009 a0001c0031t0009g0003 a0001c0034t0004g0050 a0001c0035t0027g0026 a0001c0037t0009g0052 a0001c0044t0001g0067 a0001c0045t0001g0098 a0001c0046t0002g0063 a0001c0048t0012g0084 a0001c0049t0028g0103 a0001c0051t0002g0005 a0001c0058t0050g0116 a0001c0059t0002g0090 a0001c0060t0002g0069 a0001c0061t0045g0114 a0001c0062t0020g0126 a0001c0064t0008g0024 a0001c0065t0024g0141 a0002c0009t0001g0027 a0002c0009t0001g0029 a0002c0009t0041g0110 a0002c0010t0007g0083 a0002c0010t0012g0013 a0002c0010t0016g0028 a0002c0017t0018g0108 a0002c0017t0018g0109 a0002c0023t0019g0131 a0002c0023t0019g0132 a0002c0052t0001g0073 a0003c0032t0009g0049 a0003c0033t0034g0034 a0003c0038t0009g0012 a0003c0047t0004g0076 a0004c0014t0013g0078 a0004c0014t0013g0094 a0005c0036t0015g0101 a0006c0053t0038g0075 a0007c0050t0003g0016 a0009c0063t0001g0087 a0010c0066t0001g0055	105	142	0.7394	4	c.140 others(17): Show c.1409+2_1409+3insGAGT		ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	13/56					chr12	TogoVar
KASH5_chr19_49383249_49422990	49390927	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00733.hp1 HG00733.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0062 a0002c0004t0005g0062	1	354	0.0028	0	c.43+ others(4): Show c.43+1G>A		KASH5	ENSG00000161609.10	transcript	ENST00000447857.8	protein_coding	2/19					chr19	TogoVar
KASH5_chr19_49383249_49422990	49409254	CTGGGCTT others(23): Show CTGGGCTTGGAGATCGAGGCCATTCGACAGG	C C	splice_donor_variant others(3): Show splice_donor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	NA18985.hp2 NA18985.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0083 a0008c0011t0001g0083	1	354	0.0028	-30	c.112 others(41): Show c.1123_1146+6delTTGGAGATCGAGGCCATTCGACAGGTGGGC	p.Leu others(13): Show p.Leu375_Gln382del	KASH5	ENSG00000161609.10	transcript	ENST00000447857.8	protein_coding	14/20	1297/2343	1123/1689	375/562	INFO_REALIGN_3_PRIME	chr19	TogoVar
KCNJ16_chr17_70070225_70140608	70100767	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00733.hp2 HG01099.hp2 HG01109.hp1 others(47): Show HG00733.hp2 HG01099.hp2 HG01109.hp1 HG01123.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01361.hp1 HG01952.hp1 HG01981.hp1 HG02071.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp2 HG02280.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp2 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03834.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 NA18522.hp2 NA18949.hp2 NA18962.hp1 NA18991.hp2 NA19005.hp1 NA19006.hp1 NA20300.hp2 NA20905.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0004 a0002c0002 others(2): Show a0001c0001 a0001c0004 a0002c0002 a0002c0011 a0005c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0004t0001 a0002c0002t0004 a0002c0002t0006 a0002c0011t0030 a0005c0010t0004	a0001c0001t0001g0007 a0001c0001t0001g0129 a0001c0001t0001g0243 others(46): Show a0001c0001t0001g0007 a0001c0001t0001g0129 a0001c0001t0001g0243 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0318 a0001c0001t0001g0321 a0001c0001t0002g0008 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0289 a0001c0001t0002g0307 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0320 a0001c0001t0003g0292 a0001c0001t0003g0297 a0001c0001t0007g0049 a0001c0001t0008g0304 a0001c0001t0008g0305 a0001c0001t0010g0313 a0001c0001t0012g0302 a0001c0001t0012g0308 a0001c0001t0015g0306 a0001c0001t0021g0294 a0001c0001t0023g0323 a0001c0001t0024g0319 a0001c0004t0001g0309 a0002c0002t0004g0009 a0002c0002t0004g0051 a0002c0002t0004g0142 a0002c0002t0006g0322 a0002c0011t0030g0290 a0005c0010t0004g0288	50	330	0.1515	0	c.-19 others(6): Show c.-191+1G>A		KCNJ16	ENSG00000153822.15	transcript	ENST00000392671.6	protein_coding	2/3					chr17	TogoVar
KCNJ16_chr17_70070225_70140608	70130976	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG03669.hp2 HG03669.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0030 a0002c0011t0030	a0002c0011t0030g0290 a0002c0011t0030g0290	1	330	0.0030	0	c.-94 others(5): Show c.-94+1G>A		KCNJ16	ENSG00000153822.15	transcript	ENST00000392671.6	protein_coding	3/3					chr17	TogoVar
KCNK4_chr11_64286302_64305031	64297281	T T	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01361.hp2 HG01361.hp2	a0006 a0006	a0006c0004 a0006c0004	a0006c0004t0001 a0006c0004t0001	a0006c0004t0001g0068 a0006c0004t0001g0068	1	406	0.0025	0	c.474 others(5): Show c.474+2T>C		KCNK4	ENSG00000182450.14	transcript	ENST00000422670.7	protein_coding	4/6					chr11	TogoVar
KIAA0408_chr6_127433406_127464389	127459174	C C	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0122 a0001c0001t0002g0122	1	350	0.0029	0	c.-12 others(6): Show c.-121+1G>T		KIAA0408	ENSG00000189367.15	transcript	ENST00000483725.8	protein_coding	1/5					chr6	TogoVar
KIAA1191_chr5_176341062_176366764	176361601	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	406	0.0025	0	c.-16 others(6): Show c.-168+1G>A		KIAA1191	ENSG00000122203.15	transcript	ENST00000298569.9	protein_coding	1/8					chr5	TogoVar
KIF16B_chr20_16267104_16578448	16371664	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18966.hp1 NA18966.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0077 a0003c0004t0001g0077	1	250	0.0040	0	c.344 others(6): Show c.3447+1G>A		KIF16B	ENSG00000089177.20	transcript	ENST00000354981.7	protein_coding	21/25					chr20	TogoVar
KIF1B_chr1_10205570_10386603	10210879	G G	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01167.hp2 HG02145.hp1 HG02622.hp1 others(3): Show HG01167.hp2 HG02145.hp1 HG02622.hp1 HG02630.hp2 HG02809.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0020 a0001c0001t0028 a0001c0001t0013 a0001c0001t0020 a0001c0001t0028	a0001c0001t0013g0297 a0001c0001t0013g0298 a0001c0001t0013g0299 others(3): Show a0001c0001t0013g0297 a0001c0001t0013g0298 a0001c0001t0013g0299 a0001c0001t0020g0295 a0001c0001t0020g0296 a0001c0001t0028g0300	6	300	0.0200	0	c.-80 others(5): Show c.-80+1G>T		KIF1B	ENSG00000054523.20	transcript	ENST00000676179.1	protein_coding	1/48					chr1	TogoVar
KIR3DL1_chr19_54811468_54835778	54829458	C C	CA CA	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp2 HG00280.hp1 HG00544.hp1 others(59): Show HG00099.hp2 HG00280.hp1 HG00544.hp1 HG00597.hp1 HG00642.hp2 HG00673.hp2 HG00738.hp2 HG01074.hp1 HG01167.hp1 HG01168.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG02027.hp2 HG02083.hp1 HG02132.hp1 HG02602.hp1 HG02615.hp1 HG02630.hp1 HG02698.hp1 HG02886.hp1 HG02965.hp1 HG03834.hp2 HG04115.hp1 NA18612.hp2 NA18939.hp2 NA18943.hp2 NA18948.hp2 NA18949.hp1 NA18952.hp1 NA18954.hp1 NA18956.hp2 NA18973.hp1 NA18975.hp2 NA18979.hp2 NA18980.hp1 NA18984.hp2 NA18986.hp1 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19001.hp1 NA19003.hp1 NA19003.hp2 NA19012.hp1 NA19030.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19079.hp2 NA19080.hp2 NA19085.hp1 NA19087.hp1 NA19091.hp1 NA20129.hp2 NA20300.hp2	a0002 a0026 a0002 a0026	a0002c0002 a0002c0038 a0026c0037 a0002c0002 a0002c0038 a0026c0037	a0002c0002t0002 a0002c0002t0012 a0002c0002t0013 others(2): Show a0002c0002t0002 a0002c0002t0012 a0002c0002t0013 a0002c0038t0002 a0026c0037t0002	a0002c0002t0002g0002 a0002c0002t0002g0020 a0002c0002t0002g0028 others(24): Show a0002c0002t0002g0002 a0002c0002t0002g0020 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0121 a0002c0002t0002g0124 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0002g0131 a0002c0002t0002g0132 a0002c0002t0002g0133 a0002c0002t0002g0134 a0002c0002t0002g0135 a0002c0002t0002g0136 a0002c0002t0002g0137 a0002c0002t0002g0138 a0002c0002t0002g0140 a0002c0002t0012g0002 a0002c0002t0013g0002 a0002c0038t0002g0123 a0026c0037t0002g0125	62	395	0.1570	1	c.110 others(5): Show c.1105dupA		KIR3DL1	ENSG00000167633.18	transcript	ENST00000391728.8	protein_coding	7/8				INFO_REALIGN_3_PRIME	chr19	TogoVar
KIR3DL2_chr19_54845443_54872207	54851256	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0209 a0002c0003t0002g0209	1	441	0.0023	0	c.70+ others(4): Show c.70+1G>A		KIR3DL2	ENSG00000240403.5	transcript	ENST00000326321.7	protein_coding	2/8					chr19	TogoVar
KLHL24_chr3_183630623_183689519	183635795	T T	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01069.hp2 HG01071.hp2 HG01175.hp2 others(23): Show HG01069.hp2 HG01071.hp2 HG01175.hp2 HG02109.hp1 HG02257.hp1 HG02280.hp1 HG02451.hp2 HG02559.hp2 HG02818.hp1 HG02895.hp1 HG02965.hp1 HG02970.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 NA18906.hp1 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0009 a0001c0001t0021 a0001c0001t0035 others(6): Show a0001c0001t0009 a0001c0001t0021 a0001c0001t0035 a0001c0001t0039 a0001c0001t0041 a0001c0003t0007 a0001c0003t0009 a0001c0003t0040 a0001c0003t0042	a0001c0001t0009g0039 a0001c0001t0009g0040 a0001c0001t0009g0041 others(22): Show a0001c0001t0009g0039 a0001c0001t0009g0040 a0001c0001t0009g0041 a0001c0001t0021g0006 a0001c0001t0035g0042 a0001c0001t0039g0022 a0001c0001t0041g0043 a0001c0003t0007g0005 a0001c0003t0007g0023 a0001c0003t0007g0024 a0001c0003t0007g0026 a0001c0003t0007g0028 a0001c0003t0007g0029 a0001c0003t0007g0030 a0001c0003t0007g0031 a0001c0003t0007g0032 a0001c0003t0007g0036 a0001c0003t0007g0038 a0001c0003t0009g0005 a0001c0003t0009g0025 a0001c0003t0009g0027 a0001c0003t0009g0033 a0001c0003t0009g0035 a0001c0003t0040g0037 a0001c0003t0042g0034	26	312	0.0833	0	c.-12 others(6): Show c.-125+2T>C		KLHL24	ENSG00000114796.16	transcript	ENST00000242810.11	protein_coding	1/7					chr3	TogoVar
KLK12_chr19_51024094_51040002	51031874	A A	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(248): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18940.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18974.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp2 NA18986.hp2 NA18988.hp1 NA18990.hp2 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp2 NA18998.hp1 NA19000.hp1 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19012.hp1 NA19030.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0003 a0001c0001 a0001c0007 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0007t0001 a0002c0003t0003 a0002c0003t0006	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(97): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0002g0008 a0001c0001t0002g0017 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0153 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0007t0001g0070 a0002c0003t0003g0105 a0002c0003t0003g0106 a0002c0003t0003g0107 a0002c0003t0003g0108 a0002c0003t0003g0109 a0002c0003t0006g0155	251	448	0.5603	0	c.457 others(5): Show c.457+2T>C		KLK12	ENSG00000186474.16	transcript	ENST00000684732.1	protein_coding	4/5					chr19	TogoVar
KLK14_chr19_51072897_51087887	51082721	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	444	0.0023	0	c.-23 others(5): Show c.-23+1G>A		KLK14	ENSG00000129437.11	transcript	ENST00000650543.2	protein_coding	1/5					chr19	TogoVar
KLK15_chr19_50820289_50838574	50827242	TGGGCAAC others(3387): Show TGGGCAACCCGAGGTCTCCCGACCCTTTAGAAATCTCGACATCCCATTAC CTTTTCCCAAGACCCTGAAGCCAATGGTTCCAGCCCCTGCTCCTCAAGGA CCAACGAGTCTGAAGTCAGGCACACTCCTAGAACTCGATCCCCTCCAACT ACTCCCAGCCCCCTCCTGGTCTGTCCCCGAATCCAGGATTCTCACATCCC TAGAACTGAGGCTCAAAAGCTGGAACTAGTCTTCTCCTTCCTCCTTCAGA GATCGAAGGCTTTGAAACACACACTCCTTCCTAACCCAGGGGCTTGACAT CCGGCCTCCTCGTCTTTCAGAACCCAGGAGTTCTGGCGTCTGCCTCCGTC TTCCCCCAAATCTAGGAGCTCTTCCCCCCGAACCAGGCTCCCTCAGGACC CTGAGCCCCTGCCTTCATACCGGCTTTGGCAGTGGGCCGCAGACAGCACC CAGTGTGGGGAGATGAGGGAAGCGCCACAGTTAAAGCGTCCACGCTCGTA GAGAGCCACTTGCCATGGCTGGGAGTGGGGTGCACACTCGTCACCTTCCA GCAACTTGTCACCATCCTGGGCTGCTAAGAGAAGGGGTAGAGGATGCCTG AGGACAGGGACGTTTACATTGCCTCCTACACCTTCCTTGCACCCTGCCCT AACTACTATATGCCTATGCCTTTCCCCTAACTTCTCAAGACACCCTGCCC TGTTTTTGTTTGTTGTTGTTGTTGTTTTTGAGACGGAGTCTCACTCTTTT GCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACTTCCGCC TCCTGGGTTCAAGTGATCCTCCTGCCTCAGCCTCCCGAGTAGCTGAGGTG CCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTCT CACCATGTTAGCCAGGGTAGTCTCAAACTTCTGACTTCAAATGCTCTGCC CGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCTC CGCCTGCCCTGTTGTTTATTTACAACCGCTGCCTGTTTTCTCCAGAACTC TAGCCCCCACCCCATTTGCTATAAGACTCTGGGAGAGAGAGGAAGGGGAA CAGACCAGAGGGCAAGAAGTCCTCTGTGGTTGGGGGTGGAGACAGGGGCA CTGGATACAGGTTCAGACAGGTGGTCACTTGAAACCAGTCATTCACGGTC ACCAAATTGTCACAGACGTCAAACGCATGTGGCCACTCAGTATGTGTGAC CCAGCCTTGGCCCCAGAGTCTGGACATGTCAGCCAAATTCAGTGTGCAGT ATGAGTCCCAGATGTGGCTATACAAGGTCATGGACATGCATACATGCACA TCCAGCTTCCACACTTAGGTACAGCTATGGACAGGACTGGAAGCTGAAAT TCACTTGCATGCACATGGGTTGCAGCTTCAAGAATCACAGCACAGGCTGG GCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGG TGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGGGAA ACCCTGTCTCTAACAAAAATACAAAAAATTAGCTGGGCATGGTGGCGGGT GCCTGTAATCCCAGCTACTCTGGAGGCTGAGGCAGGAAAATCGCTTGAAC CCGGGAGGCGGAGATTGCAGTGAGCGGAGGTTGCTCCATTGCACTCCAGC CTGGGTGACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAA AAAGAATCACAGCACAGATGTTCATATGTGTATATGAATATGGATGGTTA AGACATGAATACATACACACACACACATGCACACACAAACACACACACAG AATTGGATATTGTTCAGACCTAAATTCAACATCTCTAGTGTGAGTCTTGG CATCCAGTGTCACAGACACTTGCATACAGGGTCTGGACAAAGATGGGTCC TTAAGCCTGGGTTCGAATGTACTAGCTGTGAAACTTTGAGTAAGTTATTC GACCTGTCTGTGCCTCTGTTTCCTCATCTGTAAAATGAAGATTGTTGTAA GGATGAGGTAGGAATGTGTATGTGTGTGTGTGCATGTGTGTATGTATGGT GAGTGATACCTAGCCCTGGTAGCTACTTAATAATATTAGTTGTTTTTTGC AAATGACACCTGGATTTAGTCACAGGGACATACGTGTGAAAGTTCAGGTC CATCCTGGAGATGGCCAACATAAGTCAGACATCTGCACAGAATTACCTAT AATAAATAGTCAAGGTTGGCCAGGTGTGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCAAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAG TTTGAGACCAGCCTGGCCAACATCGTGAAATCCCGTCTCTACTAAAAAAT AAATAAATAAATAAATAAAAATACAAAAATCAGCTGGGCGTGGTGGTGCG TGCCTGTAATTCTAGCTACTCGGGAGGCAGAGACAGAATTGCTTGAACCT GGGAGGCGGAGGTTGCAGTGAGCTGAGGTTGCACCACTGAACTCCAGCTT GGGCGGCAGAGCGAGACTCCGTCTCAAAAAAAACCAAACAAACAAAAAAA AGTCAAGGTTAAAACCGTGATTCACCCACAAGACATTTTGTAGAGTTAGA GCTGCAGACACCAACCCAGAAGGCCAACACTCAGATGTGGACTTGCTGTC TGGGGCAGCACCCAGACACGGGGCTGGGCATTCAAGGTCAAAGACATGCA GCTGAAGCCAGAGGCAGCCAGGGCAGGACATATTTATCCATCTCTAGATC AGCCCCCAAGCCAGATCTGTGGAGTCACTGATTGGGTTTCACATATGGGG ATCTGGCTCATGCATGTGGAGAGGATGTGAACATACAGGGCCTTGTATAC CCACTGCACACGTGCATGTACACACACACACACACACACACACACAGAAT GGCATTATGCTTAAGGACATGATTAGAGACATTCAAGGTCACAGGACCAG GACCCCTCTCCACTGGGCAATGTGGATGCATCCCCTGAAGGTTGAAGCCA TGCACACTCCCACCCACACAGGGGCAGGATTTGCACAGCCAGACCAAATG CCCACACTCTCCCCATCACAGTCAGGAACTGGGCCAAAGGCCCCCGTGAG ACCAGGGGAATGCGGATGTGGTGGACAAGGGGCTTAACAAAGGAAGGGTG AGGTCGTCCTCCGAAGGGCGGAGGGTACGGGCTGAACAGCTGGGCACCGA GGCTGCACCTGGCCAGTCCAAGCCAGAGGAAGGTGGAGGCCCCAGCTGGG CGCAGCAGGCAGGCGCGAGGCAGGTAGGTGAGTGCACAGAGAGAGCCGGA GGGGAGGCTGGAGGCGTGGGGGTCTCAGGGGCCCCCAGGAGTGAG	T T	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG01099.hp2 HG03225.hp2 HG01099.hp2 HG03225.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0119 a0007c0008t0001g0236 a0007c0008t0001g0119 a0007c0008t0001g0236	2	442	0.0045	-3394	c.43+ others(13): Show c.43+814_198-82del		KLK15	ENSG00000174562.14	transcript	ENST00000598239.6	protein_coding	3/6					chr19	TogoVar
KLRC3_chr12_10407315_10425595	10416666	C C	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02451.hp1 HG02572.hp2 HG02615.hp1 others(7): Show HG02451.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp2 HG02723.hp1 HG02886.hp1 HG02965.hp2 HG03098.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0054 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0054	10	448	0.0223	0	c.587 others(5): Show c.587+1G>T		KLRC3	ENSG00000205810.9	transcript	ENST00000396439.7	protein_coding	5/6					chr12	TogoVar
KNOP1_chr16_19696937_19723227	19718157	C C	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	372	0.0027	0	c.-3+ others(4): Show c.-3+1G>C		KNOP1	ENSG00000103550.14	transcript	ENST00000219837.12	protein_coding	1/4					chr16	TogoVar
KRBA1_chr7_149709951_149739575	149720179	CCCCAGGC others(968): Show CCCCAGGCAATGCGTGACCTCAGCCTACTCAGTCCAGCCTCTCACCTCCC TGCCTCCCCTACTGCAACCTCCCAAGCTTTCACCCCTCATCCCTCTGGGC TGGAAGCCTGTTATGCAGAGAAGCACTCAGAGAAAGCCTGGGGTCACCCT GGAGAGTACCTCCTGCCTCAGGCCCCCCACCCACCACCACCCTGAAGCCT TATCACAGCCACCCCTGCAGAACCTGCTCCAGCTCCCAAAAGTCCTGCCA CGAGGCTTACATCCCAAGACCTCAGATGGTGGATGTGCTCCACCGGCCCA GACTGGGCAAGGCCAGGCATTTAGGGGGTGCCAGGAAAGGCAGAGGGCCC AGATGGTGGAAGAAGTGTAGCGGCAGCCCGCCTGGGCATTCCCCTGGGAG GCATGGAGATTAATGAGTAACGTAGAACAGAGGAGCCCTGTTACCCAGGC CCCGCCCCCATGCCCTGGCTGTCCCTTGGCCAGAGCGCCTGGCCTGAGCC CAGGTCCTCTATATCTCATGGGACATGGTGTCTCCTCTGGCTGCTCCTCA TGTGGCTGGGAGGATTACGTGAGATGCTGGGTGTGAAAACACGCACGTAG GTGTGAGTGCTGAGCAGCCGCAGGGGTGCGGGGGGGTCACTGTGGCCTCT CTGCAGGGGGACAGCCCCGGCACAGCCTGCACCTCACAGCCCTGGTGCAG CTGGTGAAGGAGATCCCAGAGTTCTTGTTTGGAGAAGTCAAGGGCGCTAT GGACAGCCCCGAGAGCGAGAGCCGGGGAGCCAGCCTGGATGGAGAGAGAG CGAGCCCCGAGGGTAAGTCAGACAGTGGGGCAGTGCACGCAGCCTCCTCT GCACTCCGCATGATGAAGCACAAGTCCACGGCACTGCACTGCATGTGGGC TTGCAGGCACAGGCCGGGAGGCAGAGTCACCTGCTGTTCCTCGTGGCTAG GCCGTGTGCCGCCCTCTGAGCACATG	C C	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA19077.hp1 NA19077.hp1	a0015 a0015	a0015c0017 a0015c0017	a0015c0017t0001 a0015c0017t0001	a0015c0017t0001g0164 a0015c0017t0001g0164	1	414	0.0024	-975	c.259 others(14): Show c.259+57_415+168del		KRBA1	ENSG00000133619.18	transcript	ENST00000496259.6	protein_coding	4/17				INFO_REALIGN_3_PRIME	chr7	TogoVar
KRBOX4_chrX_46442297_46479639	46450474	AG AG	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18965.hp1 NA18965.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0112 a0003c0003t0001g0112	1	318	0.0031	-1	c.15+ others(5): Show c.15+1delG		KRBOX4	ENSG00000147121.16	transcript	ENST00000344302.9	protein_coding	3/5				INFO_REALIGN_3_PRIME	chrX	TogoVar
KRT26_chr17_40761238_40777201	40771671	A A	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	414	0.0024	0	c.441 others(5): Show c.441+2T>C		KRT26	ENSG00000186393.6	transcript	ENST00000335552.5	protein_coding	1/7					chr17	TogoVar
KRT31_chr17_41388721_41402608	41394847	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	453	0.0022	0	c.109 others(6): Show c.1097+1G>A		KRT31	ENSG00000094796.5	transcript	ENST00000251645.3	protein_coding	6/6					chr17	TogoVar
KRT3_chr12_52784685_52801117	52790835	T T	TA TA	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00323.hp1 HG00642.hp1 HG00733.hp2 others(11): Show HG00323.hp1 HG00642.hp1 HG00733.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp2 HG01256.hp1 HG01346.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG04184.hp1 HG04204.hp1	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0002 a0003c0005 a0005c0007 a0002c0002 a0003c0005 a0005c0007	a0002c0002t0001 a0003c0005t0001 a0005c0007t0001 a0002c0002t0001 a0003c0005t0001 a0005c0007t0001	a0002c0002t0001g0006 a0002c0002t0001g0042 a0003c0005t0001g0068 others(1): Show a0002c0002t0001g0006 a0002c0002t0001g0042 a0003c0005t0001g0068 a0005c0007t0001g0059	14	454	0.0308	1	c.157 others(7): Show c.1570+2dupT		KRT3	ENSG00000186442.7	transcript	ENST00000417996.2	protein_coding	8/8					chr12	TogoVar
KRT73_chr12_52602570_52623559	52610614	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	424	0.0024	0	c.133 others(6): Show c.1331+1G>A		KRT73	ENSG00000186049.8	transcript	ENST00000305748.7	protein_coding	7/8					chr12	TogoVar
L1CAM_chrX_153856516_153891173	153873226	AC AC	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19076.hp1 NA19076.hp1	a0004 a0004	a0004c0027 a0004c0027	a0004c0027t0018 a0004c0027t0018	a0004c0027t0018g0176 a0004c0027t0018g0176	1	283	0.0035	-1	c.91+ others(5): Show c.91+1delG		L1CAM	ENSG00000198910.14	transcript	ENST00000370060.7	protein_coding	3/28					chrX	TogoVar
LAMA5_chr20_62304065_62372312	62312886	A A	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02897.hp2 HG02897.hp2	a0080 a0080	a0080c0128 a0080c0128	a0080c0128t0001 a0080c0128t0001	a0080c0128t0001g0026 a0080c0128t0001g0026	1	186	0.0054	0	c.907 others(6): Show c.9078+2T>G		LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	66/79					chr20	TogoVar
LAMA5_chr20_62304065_62372312	62312887	C C	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02897.hp2 HG02897.hp2	a0080 a0080	a0080c0128 a0080c0128	a0080c0128t0001 a0080c0128t0001	a0080c0128t0001g0026 a0080c0128t0001g0026	1	186	0.0054	0	c.907 others(6): Show c.9078+1G>T		LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	66/79					chr20	TogoVar
LAMB4_chr7_108018553_108135361	108123130	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG03041.hp1 NA19043.hp2 HG03041.hp1 NA19043.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0002 a0007c0011t0002	a0007c0011t0002g0156 a0007c0011t0002g0157 a0007c0011t0002g0156 a0007c0011t0002g0157	2	292	0.0069	0	c.34+ others(4): Show c.34+1G>A		LAMB4	ENSG00000091128.13	transcript	ENST00000388781.8	protein_coding	2/33					chr7	TogoVar
LARP1B_chr4_128056312_128216988	128199601	T T	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02004.hp1 HG02004.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0121 a0002c0002t0002g0121	1	336	0.0030	0	c.216 others(6): Show c.2164+2T>C		LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	16/19					chr4	TogoVar
LARS2_chr3_45383576_45554407	45399787	CCCTTTCC others(946): Show CCCTTTCCACCCTTCCCCCAAAGTCCCCAAAGTCCATTGTATCATTCTTA TGCCTCATAGCTTAGCTCCCACATATCAGTGAGAACATAAGATGTTTGGT TTTCCATTCCTGAGTTACTTCATTTAGAATAATAGTCTCCAATCTCACCC AGGTCACTGCAAATACTGTTAATTCATTCCTTTCAAAAAATAAGTTTTTA AAAGAGAAAAAAAAAAGATATATGGGTACTTAACACTTAGAGGTTGTTTG GCATTATTTTGGACATTCTTTAGCTTAAACCAGGGCTTTGAATTTTGCTT TTTGACATTTTAATTGATTTACATTCTGGGAACACTCTTTTTAAAAGGAA ACTTTTAAAATGTTAAATTATTACTTTGTGTAAAATGCCAAAATATTATG TATACATGCAGAGTTCCCAGAAAATGCTTAATAAATACTCATTGTCGTTC TTTCCTAGAAATCGAAGCCAAAATTTTACGTGCTTTCCATGTTCCCTTAT CCTTCTGGTAAGCTGCACATGGGCCATGTGCGTGTCTACACCATCAGCGA CACCATAGCACGGTTCCAGAAGATGAGAGGGATGCAGGTAAGAACAGGTG CCTGCTGGAGCAGCCCTTGTCTGCCACACGCAGGGTTGGCATGTAGTAAT ATGTGTTCAAGACAAATGAAGAAAACCAACTTTAGTTAAGATTAGGACAG CTTTGAAGATGGACATGAAAAGCTCAGTGTTTCCTTTTATGGATTAGATG ATATTATAATAAAGCATCTAGGTTAATTGGGGGGCAGCCATGAGTTGGGT GTTGTGCTGGGGTGGAGATCAGATGGGAATGGGGTGAAAGGTAGATACAA ATGTGGATAACACTGATAATCTTCCCAGGAGATACTCACCCATGAGTAGA GAATCATTGTATATAACGAACTGAGGTCAACAGTACAAATACACATCAGT GCTA	C C	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA18995.hp1 NA18995.hp1	a0007 a0007	a0007c0023 a0007c0023	a0007c0023t0001 a0007c0023t0001	a0007c0023t0001g0135 a0007c0023t0001g0135	1	242	0.0041	-953	c.235 others(15): Show c.235-457_363+367del		LARS2	ENSG00000011376.12	transcript	ENST00000645846.2	protein_coding	4/22					chr3	TogoVar
LBHD2_chr14_103079210_103095027	103086083	T T	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0080 a0002c0002t0006g0080	1	432	0.0023	0	c.69+ others(4): Show c.69+2T>A		LBHD2	ENSG00000283071.1	transcript	ENST00000634353.1	protein_coding	2/3					chr14	TogoVar
LCE2B_chr1_152681123_152692397	152686157	G G	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18957.hp1 NA18974.hp1 NA18987.hp2 others(1): Show NA18957.hp1 NA18974.hp1 NA18987.hp2 NA19063.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0011 a0001c0001 a0007c0011	a0001c0001t0001 a0007c0011t0001 a0001c0001t0001 a0007c0011t0001	a0001c0001t0001g0007 a0007c0011t0001g0007 a0001c0001t0001g0007 a0007c0011t0001g0007	4	446	0.0090	0	c.-21 others(5): Show c.-21+1G>C		LCE2B	ENSG00000159455.9	transcript	ENST00000368780.4	protein_coding	1/1					chr1	TogoVar
LCE6A_chr1_152837856_152848983	152843013	T T	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00741.hp1 HG02300.hp1 HG02559.hp2 HG00741.hp1 HG02300.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	3	400	0.0075	0	c.-22 others(5): Show c.-22+2T>C		LCE6A	ENSG00000235942.3	transcript	ENST00000431011.3	protein_coding	1/1					chr1	TogoVar
LCN10_chr9_136733170_136747940	136739948	A A	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	392	0.0026	0	c.574 others(5): Show c.574+2T>A		LCN10	ENSG00000187922.14	transcript	ENST00000497771.6	protein_coding	5/5					chr9	TogoVar

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