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
HOOK2_chr19_12758003_12780552	12773045	C C	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG03130.hp1 HG03130.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0098 a0006c0010t0001g0098	1	360	0.0028	0	c.205 others(5): Show c.205-1G>T		HOOK2	ENSG00000095066.12	transcript	ENST00000397668.8	protein_coding	3/22					chr19	TogoVar
HOOK2_chr19_12758003_12780552	12773046	T T	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG03130.hp1 HG03130.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0098 a0006c0010t0001g0098	1	360	0.0028	0	c.205 others(5): Show c.205-2A>G		HOOK2	ENSG00000095066.12	transcript	ENST00000397668.8	protein_coding	3/22					chr19	TogoVar
HPF1_chr4_169724470_169762944	169750081	ATATTCCT others(2957): Show ATATTCCTATCAGGTATGTACAGTTATCCCTATTGTTACAAGACAGGAAA CCGAGTCACAGAAAGTCACAGTCAGTAATGATACAGGGTCACACAGATAA TAAACAAGAGGACCAGTGTGACTCCAGAGACCACTCTTAACTACCAGTTG CCACTCTGGCACACGGCTTATTAAGCACAGCTGCTCTAAATTATCTTTCT TGGGCCAAAAGAGCTCTTCTGAACCCAAAAGGGAAAAAAAGTTTACAAGG AAAGGAAAAACAAGTGAGATTAAACCTAAAGAGTTTACCCATCCTAGGGA AGGTTAAAACGGTAACAGCAAGAACAACAGATGGCTCATATATCCACCAA CAGGGGAAAATATGCCTTTCACCTTGGGTGAGGCTAGTGAATAACTATTT ATCCTCATTAGCAGGACAGCAGCTGTATTTTAGAGGCGAAGAAAAGATCC TTTACCTGAAATACCCCATGTGGTACTGAGTTTTATTATCTCCAATAATA ATGGTCTGGAACTCAGGAGGATCATAGTAAAACCTCCAGTGAAGGTTAAA ATTCAGGCCTGTTGATTTTTTCTTCGTTTTATGTTTTCCAGCAAGGATAT CATAAGGACCAACTAATTGAAGTCCAAGGCTTGCAGAAAGTGAATCTATA AAGAAAATAAATTTAGACAATACTTTCTGGAGACAGGTAGGAAATAATGC TTTTATTTAGTAAACTATTTCTAAGCAATTGTCTTTAAAAAGTTTCTAAA CTAAAAAAATCTTGAGTTATGTGTGAAGATGTCAGTTATAAACATTCAAT GGAAAAGAAGTCAGAGTAACAGGAAAAGTGGTATTTACATTTAGGATTTC CTCTTAAATTTACCACTGAATTAGCCTAACATTTCAGACATTCCTGTTGT TTCTTATTTTGGCCAAAGCAAGACTGGTTTGTATTCCTATAGGCCCATTA CCACACTGCAGTTAGCCTCAAATACTTGTAGTACACACAGGTTAAGGGAG AGAAAGATAGCAAAAATGTGTGGATTAAGAGTAGTAAAAAACAGGCCAGG TGTGGTCGCTCACACCTGTAATCCCAGCACTTTGGCAGGCTGAGGCGGGC TGATCACCTGAGGTCAGGAGGAGACAAGCCTGGCCAACATGGCAAAACCC CGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCTCACGCCTG TAATCCCAGCTATTGGAGAGGCTGAGGAACAAGAATCACTTGAACCCTGG AGGTGGAGGTTGCAGTGAAACGAGATTGCGCCATTGCACTCCAGCCTGGG TGACAGGGTGAGGCTCTGTCTCAAAAAAAAAAAAAAAAAAAAGGTAAAAA ACATTTCTATCCCCTTTCCTCTACCTCAGCTAATCACACCAGATTCCCCT GACTCTTTGACAATCTATTTGGCCAACCCTAACCCTGGATGACTCCATCT TCCTTCTCTATTCACGGATCACAGACAGGGAGTGTTCATAAACCACAAAG ACATGAAGTCTGTGCAAGTGTACAATGCATAACTTCAAATGGGTCCTTAC TTCTAAGATGGAGGGAAGCACCCCAGACAGGACCCAGTTTTATAAGGAGG GAAGGATGAAGAAAACAAAAAAATTCCTGGAAGAGGTAATAACATGAATA GAAGCATGGAGATAACTTGACAGGAAAAATAGTTCAGCTTAACTGAAGCT TAGGAGAGCATACACTAATTTTTAAAGCATGAAGAAAACTAAAACCATCC ATCTCATTAGCCGAAGATAACAGTTAATAGTCTATTATACAGTAACAAAT TTCCATACTCTCCACCCCCATGAACAGATACAAACATGTAACAAACTGAG AAGGGTTGTTTTGTATTGTAATCTGCTTTTGTCCTCCATCCTGTCCCATT TAAATGTTCTGAATATTTTTCCATGCTATTCAATGTTATTTGACATGATT TTTTAATAGGGCATAATACTGCATTATAAAGAGGTAACCATCTATTCTCT TACTGAGGGAAATTTACTATTTCTTTTTTCTGTTCTAAAATGTTTCAGTG AACATCTTTGCTAATAAATGTTTGTATACAGGCATGACTTTTTTTTTTTT TTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGACTGGAGTGCAGTGG TGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTC TGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCACCCGCCACCACGCCC AGCTAAAGGCATGACTATTTTTAAAGAAACAGCTACACAGTTCTGTTCTG ATCTACTGGCAAAATTCAGAATATGTATCAATACACATTTCCATCAATAG TGTATGACAGTGCCTACTAGTTAAAAAATTTAAATAGTATAGTGCAAAGT AATGAACACAGCCCATTAACAGTTTCTTTATCCTTTCAGAGACAAAATAA GCACACAGAAAAGTATACAGGGATATGTGTGTACTCTCTCTCCCCCATGC TATTTTTAAAAAAATACTAATGGTAGCATACTCTATACACTCTTCTTTTT CACTTAACATATTTCAGGCATGATAGTTTATTATTTCCTAAAAATCTGCT TCATTCTTTTAAAACAATGAAGATCTACTGAATAGATGTGGTATTGGTAG GCATTTAAGCCATTTCCCATTTTTTCTTTAAGTAAATATCCTCAAACATA ATTCTTAGTTTATGTAATCCATAAGACAAGTTCTTGGAAGCAGAACTGTT ATAACTCCTGCAACACATGAAAGAGCTTGCTTTCCTTCACATTCCCCCAG AATGTGATGAAATTACCTTTGCCAATAAACTAGGTGACAGTGGCATTACT ATAGCATTAATCTATATTTCTTTCTATATTTTCTCTTACTAGAAGAAACA TCTTGGAAAATATTTGTTTTCTATGAACAGTTTATATCCTTGGTTAGGTT TTTTTTTTTTTTTTT	A A	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG03927.hp2 HG03927.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0120 a0005c0009t0001g0120	1	320	0.0031	-2964	c.208 others(15): Show c.208+631_398+454del		HPF1	ENSG00000056050.7	transcript	ENST00000393381.3	protein_coding	3/8					chr4	TogoVar
HSD17B13_chr4_87298794_87327882	87315600	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	442	0.0023	0	c.451 others(5): Show c.451-1G>A		HSD17B13	ENSG00000170509.12	transcript	ENST00000328546.5	protein_coding	3/6					chr4	TogoVar
HSD17B13_chr4_87298794_87327882	87315601	T T	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	442	0.0023	0	c.451 others(5): Show c.451-2A>G		HSD17B13	ENSG00000170509.12	transcript	ENST00000328546.5	protein_coding	3/6					chr4	TogoVar
HSP90B1_chr12_103925410_103952926	103942526	G G	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA19067.hp1 NA19067.hp1	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0001 a0005c0013t0001	a0005c0013t0001g0139 a0005c0013t0001g0139	1	458	0.0022	0	c.137 others(6): Show c.1375-1G>A		HSP90B1	ENSG00000166598.16	transcript	ENST00000299767.10	protein_coding	11/17					chr12	TogoVar
HTR3D_chr3_184026742_184044369	184035176	A A	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00738.hp1 HG01109.hp2 HG01175.hp1 others(6): Show HG00738.hp1 HG01109.hp2 HG01175.hp1 HG01256.hp1 HG01258.hp2 HG01346.hp1 HG01515.hp2 HG01517.hp1 HG02148.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0011 a0001c0002t0003g0028 a0001c0002t0003g0011 a0001c0002t0003g0028	9	450	0.0200	0	c.67- others(4): Show c.67-2A>C		HTR3D	ENSG00000186090.11	transcript	ENST00000428798.7	protein_coding	1/7					chr3	TogoVar
HTR3E_chr3_184092064_184111995	184099474	GGAGGCCG others(1967): Show GGAGGCCGAGGCGGGTGGATCATGAAGTCAGGAGATTGAGACCATCCTGG CTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCC ACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAGAAAGAAATATGCACAATTATTATATGTCCATT AAAAATAAAATAAAACTTTTTTAAAGCCTCAAACTAGAACGCTGGTGATA GAGTTGGGTAAAGTCAAGTAAGAAGGAAGGTTGGGGCAGTCGGGGTGAAA ACAGGTGTGTTCTCTCCGGGGCCCCGGGACTGTAATCCTATCGGATGACT ATCAACATTCCAGGCACAGTTTGCATATAGATTTGGGCATGCTTTGCATG GAGACAGAAATATTAGAAAGGAGGCTGGAGCTCTAGCTCAGCTTTGCTAC ATTAGCTTCCAGAATTTGCATTCCAGCTCACCCCATCCTCCCGGGCCTCG GAAGGAAGAGCCCAGCGTCTGGACCCCTCTCGGTGATCCCCTCCCCATTC TTCATCTCATCCCTGGGGACGTATAGCACAGCAGCAGCAGACAAACCTGG GTTCAGAACAAGTCCGGCTTCTGCCTTTTATTGGCTGTCTGACTGTAGGA AGTTACTTCCTCTTATTGCACCTTAGTTAGCTCGTTTATTACATGAGGGT AAAGCAGTATCTACCTGATAGGGGATTGGGAGGATTAAATGAGGTAATCC ATTTTTAAAGGGCTTAGAATATACCTGACACACAGCCAGTGCTCAACAAA TGTTAGCTTTCATTTTATCACGGGCGACCCCACGCCCTGCCTTGGGGCCC CTCTCATATAGGGAGCACAGGGTTGCTCTCCTTCATCTCACACATTCGAT GTCCACTACAGGAAGGGGCGTTACTTTCACCATCAATTGCTCAGGGTTTG GCCAGCACGGGGCGGATCCCACTGCTCTGAATTCAGTGTTTAATAGAAAG CCCTTCCGTCCGGTCACCAACATCAGCGTCCCCACCCAAGTCAACATCTC CTTCGCGATGTCTGCCATCCTAGATGTGGTGAGTGCTGACCTCTCTAGCC CTCCTTGGTGTCCTTAACCTTTTTCCAGCCCCTGGCAAAGTGGCCCCCCA AAGCCCTTATCCACATTTCTGCTTCCTCCACCACTGCTGGATGGCATTTG CCTGGCATGGGGATCTCAAAGAAGCTCTGTCCAGGGCAGCAGGGTGAGGT ATAACAGCACATGGAAGAGAATCTTTTCTTCTCTCTCTGGCTGTATACCA GTGACCAGGTTCTAATCTCAGAGGTTTTGATTGGATGAAACCCAAGCCTC GTTTTTGTTTTGTTTTTGTTTTTGTTTTTGTATTTTTTGAGATGGAGTCT CACTCTGTTGCCCAGGCTGGAGTGCAATGGCACGGTCTTGGCTCACTGCA ACCTCCACCTCCTGGGCTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGATTTCAGGCATGCGTCACAACACCTGGCTAATTTTTGTACTTTT AGTAGAGACGGAGTTTCACCATGTTGGCCAAGCTGGTCTCAAACTCCTGA CCTCAAGTGATCTGCCTGTCTCGGCCTCCCAGGCATTACAGGCATGAGCC ACCGCGCCCGGCCACATCGATATTTTTAAGCTTCTCGAGTTATTCTCATA TACAGCGAGGGTTGAGAAGGACTACTTTACTCCCGCCCTGCTGTGAACTC TCCTGTCCGTAGCCTAACACATGGGTTTGGATAGAGCTTTTGTTCTGGAT CACATATCCCCTTTATATACCTTGGGAGTTGGTAAACAAGCATGGGAAGT GGGGGAGATGGAACAGACTTCTTAC	G G	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG00609.hp1 HG00609.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0182 a0006c0007t0001g0182	1	422	0.0024	-1974	c.68- others(14): Show c.68-1010_235-37del		HTR3E	ENSG00000186038.9	transcript	ENST00000415389.6	protein_coding	2/9					chr3	TogoVar
HUWE1_chrX_53527096_53691719	53568875	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA19083.hp1 NA19083.hp1	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0002 a0003c0016t0002	a0003c0016t0002g0119 a0003c0016t0002g0119	1	214	0.0047	1	c.652 others(7): Show c.6525-2dupA		HUWE1	ENSG00000086758.17	transcript	ENST00000262854.11	protein_coding	48/83					chrX	TogoVar
IFI16_chr1_159004907_159060151	159045042	CGTGAAGA others(4128): Show CGTGAAGACTGAGTATTCCATCCCCAGACAATGCAATTTCAGTTATCTGA GTTTTTAATCCTGACTGGGATGAGAGAAGGCTGAGTGATAGAAGTATCTG AATATGTGGTATTATTCCTCCTGCAACTCAGGGAAAAACAGAGAAACTGG CAAAGTGAACATCCTATTTAAAAAAGAAAAAAGGAAAAGATGTGTTTCAT CTGATCTTGAAAAACATTAACTAGAAAAAAAGAACAAACATCTATTTTCC TTTAGAAAAGTGAAGACACAATCTCCAAAATGAATGACTTCATGAGGATG CAGATACTGAAGGAAGGGAGTCATTTTCCAGGACCGTTCATGACCAGCAT AGGCCCAGCTGAGAGCCATCCCCACACTCCTCAGATGCCTCCATCAACAC CAAGCAGCAGTTTCTTAACCACGGTACAAGTTCCCTCTTCCCAATACATT CCCCTCACTACAATGTAATGACAAGGATTAACACAACCTTGAAAGCACCT CACCAATCCCCTACTACATACAATGCTTTAATTTAACCAAATCAGTCATT TATTTATCAAGTGTGTATTTTGAGGTCCTATCCAAAATTAAAATTCTATT TTTATCATCTCTATTCCATAGCAGGTATAATTAGATATCTTTTTAATTTT ATTTTCCTTTTGGCTTACCTTTTTGTTTTTCCCTCAATACACCACGAAAA TAATACTTTAAGGTAGAACAAGGTGGGAAAAAACAGAGCCAACCATAACA CTATCACTGATTCTTTCTCTTTCATTTATTATAACTCAAATAATACCATC TTTAAAAATTTAGGAAAAGAAGGTACATAAGCAAAAATAATTAATTTTTA ACTATCAGAAATCTTTATCTAATGCCACATTTCAGTACATGGTCTTTCTG ACTTTACACCTTTCATTATGTATATACAAAGAGTCTTATTATATTCTCTC AGAGTAAATCACATTACGCATATTTTTCTATAACTCATGCTTTTTATTAA TATATCTTGAACTGCCATTCAACCATACAATATAGATTTAAATTACTTTA TTGTACCAGAAAAATTGCATGGTTATTCCATACATTATAAAATGATCCTA CGTTATTTGGCTTATGTTGTTTCTAGTATTCTGTGAATTTACAATGAACA TAGTAAGAACAAATGTCTCTCAGATCTTCTTTCATTACCCTCAGAGTAGC TTTATAATTATTTCCTTAGGTCCTGTGCACCTTGTGTCAGGGTACTAATG TCATGGCTATTGTAAGGTGATTTGATACTGATTAACTTCATTGGGAACGG GTTTCCTAATGTTATGGAAAATTGGCCACATTGATGAGTTTTGTGTGTGA TATGCGTTATTCCTGGTTTTGATTTGAAAACCAGAAGGATAACATTTTTA TATTTGATATCTTCTACCATGTCTCCCTTTAAATAAACAACATACAATGA TTTGAGATATGAACAGGAATAATTGCTATTTTTTCCTGAATAACAATTCC ACCAGTATTATTATTACCAATATGTTCATCCTCTACATTCCAGTTTCTTT GCAATCCTTTCTCTTTTGCTCTCTCACCATACATCAGAGGTTAGTTTCAC TATCCATGCTCTTAACCACATCAAGGGTTTTGATACTTCCTTTGATATCA AATTTTTCCATCTCAATTCTGTCCCCAAATAAGTTCAACCACGAGGTACC AGTCTCATCTATTCCTTGAGCAAGTTCTCACTAATACCCTCCTCCCAGAA TAGATCATATTTTCTCATTGTTTGCCTTCATAGGTACCTTTCTATTTCTT TAGAGCATTTATCATAGCTATAATAAACCTATGACTTTCTTCCCTACTCA GCAATAAATGTAGGTTATAGATACCCTTTCCTAGGAGAAGATAACACAGA GGTGGGAAAGTGAATTTACACTTGTGTGTTATCAACCCTTATCCCAGCTT GCCTTTTGTTCTGCCCTGATACCTCTGTATGACCTACAATCCAGCGCTAT GGGGCCTACACCCAAGACGAATGGGCAGGGAAGGTATGGGCAGGGAAATA CTGACCCACGGCAACTTGAGGGATAGGGAACACTAAGATTTACATTACTA TTCTCCAATGTTGTTTCTCACCCAAGCCCCAAGCTACCCCCGGCCCAGGT TGCGGACCCGAGCACCATCCACACACGTCAGTTGAGAACAGGCTTTCTAC ATACAGGTTTTCTCAATTTTTTAGACAGTCTTTTTTTTTAGTTATTAATT TCAAGATTTCATATTTCCCCCTATATAGTCTTTCCTGGTTCTTCTTGGGC AGAACTAGCTGCTTGTAACTGTTGCCATCTTGGGACTTACCATCAAGGCC ACAGGTAGAGCCCATGTGTAGTCATGAAAATCTCAGGCCCACTGTCTCTC TGTTACTGTAATGACATACATAGACATCATAAGACAACTACTCTGTCCAT GCATACTGGCTTGGAAGTGACACTTTCTAAGACCTTGCCTGCCTAAATAT GCAGCACAATCATTTCTACTTGCATAGGAATCATTCTGCTGCTCTGAAAG CTCAGGATCCAAGGCAGACTCATCCACCTAAACATACACCACGTAGTCAT TTCTTCTCTGGGATCCAGCCATCTTCACAGGAGGCCTGCAAAAATGGTGT CTGACCAATCAGTCTGTGATTCGCAACGTAAGCCGGGAATCCTTGCTCTT ATACATCACAGCTTCTCCCAAGTAGTTTTTCTATAATAGAGTTCTTTCTG ACTTTAATTCAAAGCCGGAAACAGACTATTACCTTTGATTTATGCTGTTA CGTATCCTGAAGTGAACAGTACACAAGGGCATAATTCATGAACAGGGTAG GGTGGAGGAGGATTTATTCTGAGGGAAAACAAATGCTTGCACTTTTAAAA TATTATTCAAACAAAGATTATAATTTCATCATCCAAACTGGGCTACTGTG ATGACAGTTTAAGATTTCACTTATTTTTAAAACATTATATCTCAAGACAA TCTTGTCAATAAAATTACATTGCTACACATGGCAGATCTGAAGAGAGGGG CTTCTCTCCTATTATGCTTCCTATATTACCTCCATACAAGATTTCCATCA GCAAGGGCATCATAAAGCATGAAATAGCTGTTCATCAGAGCAGACACGCA AACCCCTAATAGATCGTGGAAAAATAATAGCAACAAAGATTTATTTATTG AGCATTTACTGAGCTCTGGACTCTAAAACCCATTCTTTGTGCACATTACC TAATTTATTCTTTATAACACCATACAAAAATGCTATGGCTAGTCCCACTT CACATGTGAGAAAACTGAGATGCAAAGAAATCTTCCTCAGGGTCACACAA ATAGTATTAGAGTCAGGATTCAAATGCAGCCTTATTGAACTTAAAATGTT AACATTTAAAATGTGAACCTTTAATGAGCATAGACTGAATCCACAGTAGG TGTGCAAATGTTAAACAATTTTGAAAATACAGTGTTTTGTTTGGGGTTTA TTTCCATAGTCCAGGTGCTCAGTGGTGGTCAGAGACTGTTCTAATCAAGA AGCTGTTCTCCATGTGAGCTCACTACAAGCAGTTCTTTTGTGTACCTCTC TATCAACAATTGCCACTTAAAAAATTAGGTTACTGAATGGCAAAACTGCT AAAATAATGTGCCACATTGGCCAAATAGGGTGAATATTTTTTGGACTTCC ATTAGTTTAATTAAAGGTAGTCAAGGTATGTGATTTTAGAGATATTCTCC AGTCTTACTTGAAAAATGTATAAAAATATAGCTAATGGGAATGCTTTAGG TGGAATATTAAATTGTTCTGAATACAGCTAAAAACCCTGAAAGATTCTGA TAGCCTGATCCACACTGTAGTGATCATAGAACCTTCCCTGAGGAATTGTG AATTTGAGAGAATCTTCCTGTTATGGCTACGATCAGAGATCCCTAAAGGA TGGAGATCTGGGTTTCTTGTATGCTGAAGAGCACTTGAGAGAGACTGGTT TGTGTATCTAATTGATGAGAAAGGCCTAGTTAATAAATGTCCATAAATGT AGCCAACTTTATTGCAAGCCATGCTGCCCCCAAAATAGCCCTAAGAGTTG TACCTGACCAAATAACTCAGTCCAGTTTTACAGGAT	C C	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG00642.hp1 HG01192.hp1 HG01516.hp2 others(3): Show HG00642.hp1 HG01192.hp1 HG01516.hp2 HG01517.hp1 HG02622.hp2 NA20129.hp1	a0006 a0006	a0006c0010 a0006c0020 a0006c0010 a0006c0020	a0006c0010t0002 a0006c0020t0001 a0006c0010t0002 a0006c0020t0001	a0006c0010t0002g0026 a0006c0010t0002g0027 a0006c0010t0002g0220 others(1): Show a0006c0010t0002g0026 a0006c0010t0002g0027 a0006c0010t0002g0220 a0006c0020t0001g0226	6	320	0.0188	-4135	c.149 others(15): Show c.1497+34_1665+33del		IFI16	ENSG00000163565.20	transcript	ENST00000295809.12	protein_coding	9/12				INFO_REALIGN_3_PRIME	chr1	TogoVar
IFI35_chr17_43001784_43019456	43011303	GAGGTCAG others(1079): Show GAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAAACCTGTTTC TACTAAAAATACAAAAATGAGCCAGGTGTGGTGGTGGGTGCCTGTAATCC CAGCTACTTGGGAGGCTGAGGCAGGAGAATTACTTGATCCTGGGAGGTGG AGGCTGCAGTGAGCCAAGATCGCGCCACTGCACCCCAGCCTGGGAGACAG AGCAAGACTCTGTCTCAAAAATAAATAAATAAATAAAAATTAAAAAAATA AATCAATAAAATAAGGATCACAGGATATCTATCTTAGATACCCTGTTGTT CTAAGAATTGAATGAAATAATTCATCAGACGGGCTTAGCACAGTGCCTGG CATATAGTAAGTACTTAGTAAACGTTAGTTAAGAATATGACTGTATGACA TTTTGCAACTAGTCTCCCCTCCTCTTGGAGGTGTCCCTAATTGGGTTAAC CCCTTTGGGATTGTCCCTCTTCCAAATTCCGGCTGCCCTTCACAGTCAGT CATGTGATCATGTACTCTTGAGCACTGTTTGGCAGGCCTGAGGGTCGTAC CCTTATCTTCCACTGCCTGTGTCAGTGCCGAGCACTTTCTAGCAGGAGCT TAATCAGTGTTTGTTGAACTCTAGATCTGTGGTCACGAACAAGTCATGGA CGCTGCAAAGGCTCCTGCCCTTTCAAGAGCAGCTGAGATGAGGCCAGCCA AGCCCTGGGTGGAGGGGGCCAAGACCAGCCCAGGGCAGCACAAAGGGGTT GGGTTGTTCTTGAGCTTAGCATCAACTCTGCTTTTGGAGCGTCCAGAATA GGCCCCACTTCCCCTGGGCTTGTTGATTCTCTGGAAGGGCGGGTAGAAGT CTTGTTGTTTCCTTCTGCCCCAACAGGCCCTCCACGCCCTTCAGGAGGAG CAGGCCAGACTCAAGATGAGGCTGTGGGACCTGCAGCAGCTGAGAAAGGA GCTCGGGGACTCCCCCAAAGACAAGGTAAGGTGGGAGATCTGGTGTTGTT TGGTAAAAACGAGCTGGCGAGGCCGGGTGCGGTGGCTCACACCTGTAAAC CCAGCACTTTGGTAGGCCAAGGGGGCCTGATCACCTC	G G	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA18953.hp2 NA18969.hp1 NA18953.hp2 NA18969.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0032 a0005c0005t0001g0032	2	340	0.0059	-1086	c.22- others(14): Show c.22-855_120+132del		IFI35	ENSG00000068079.8	transcript	ENST00000415816.7	protein_coding	2/7				INFO_REALIGN_3_PRIME	chr17	TogoVar
IGF1R_chr15_98643539_98969530	98924523	A A	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0094 a0001c0019t0094	a0001c0019t0094g0176 a0001c0019t0094g0176	1	210	0.0048	0	c.262 others(6): Show c.2623-2A>C		IGF1R	ENSG00000140443.15	transcript	ENST00000650285.1	protein_coding	12/20					chr15	TogoVar
IGF1R_chr15_98643539_98969530	98924524	G G	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0094 a0001c0019t0094	a0001c0019t0094g0176 a0001c0019t0094g0176	1	210	0.0048	0	c.262 others(6): Show c.2623-1G>A		IGF1R	ENSG00000140443.15	transcript	ENST00000650285.1	protein_coding	12/20					chr15	TogoVar
IGSF22_chr11_18699312_18731188	18720105	T T	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	452	0.0022	0	c.479 others(5): Show c.479-2A>T		IGSF22	ENSG00000179057.14	transcript	ENST00000513874.6	protein_coding	5/22					chr11	TogoVar
IL19_chr1_206765773_206847981	206798859	A A	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02155.hp1 HG02155.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0144 a0002c0002t0004g0144	1	366	0.0027	0	c.-14 others(6): Show c.-148-2A>C		IL19	ENSG00000142224.18	transcript	ENST00000659997.3	protein_coding	1/6					chr1	TogoVar
IL19_chr1_206765773_206847981	206798859	A A	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0253 a0001c0001t0003g0253	1	366	0.0027	0	c.-14 others(6): Show c.-148-2A>G		IL19	ENSG00000142224.18	transcript	ENST00000659997.3	protein_coding	1/6					chr1	TogoVar
IL19_chr1_206765773_206847981	206841003	G G	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02615.hp2 HG02630.hp1 HG02615.hp2 HG02630.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0015 a0002c0002t0008 a0001c0001t0015 a0002c0002t0008	a0001c0001t0015g0117 a0002c0002t0008g0116 a0001c0001t0015g0117 a0002c0002t0008g0116	2	366	0.0055	0	c.364 others(5): Show c.364-1G>A		IL19	ENSG00000142224.18	transcript	ENST00000659997.3	protein_coding	5/6					chr1	TogoVar
IL33_chr9_6210807_6262983	6255967	G G	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0226 a0001c0002t0002g0226	1	362	0.0028	0	c.613 others(5): Show c.613-1G>C		IL33	ENSG00000137033.12	transcript	ENST00000682010.1	protein_coding	7/7					chr9	TogoVar
IL9R_chrX_155992696_156015817	156006081	A A	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02615.hp1 HG02615.hp1	a0007 a0007	a0007c0030 a0007c0030	a0007c0030t0001 a0007c0030t0001	a0007c0030t0001g0033 a0007c0030t0001g0033	1	220	0.0046	0	c.782 others(5): Show c.782-2A>G		IL9R	ENSG00000124334.18	transcript	ENST00000244174.11	protein_coding	6/8					chrX	TogoVar
ILVBL_chr19_15109987_15130786	15123577	C C	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA19083.hp2 NA19083.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0161 a0002c0011t0001g0161	1	440	0.0023	0	c.136 others(5): Show c.136-1G>T		ILVBL	ENSG00000105135.16	transcript	ENST00000263383.8	protein_coding	2/15					chr19	TogoVar
IPO7_chr11_9379652_9453127	9438045	G G	GT GT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00673.hp1 HG01192.hp2 HG01346.hp2 others(17): Show HG00673.hp1 HG01192.hp2 HG01346.hp2 HG01358.hp2 HG01516.hp1 HG01981.hp1 HG02148.hp2 HG02293.hp2 HG02897.hp2 HG03130.hp1 HG03453.hp2 HG03486.hp2 HG03831.hp1 NA18941.hp1 NA18955.hp2 NA18964.hp2 NA18971.hp2 NA19001.hp1 NA19074.hp1 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(17): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0085 a0001c0001t0001g0093 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0128 a0001c0001t0001g0136 a0001c0001t0001g0144 a0001c0001t0001g0154 a0001c0001t0001g0169 a0001c0001t0001g0230 a0001c0001t0001g0288 a0002c0004t0001g0094	20	314	0.0637	1	c.249 others(7): Show c.2490-3dupT		IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	21/24				INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9438045	G G	GTT GTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01109.hp2 HG01952.hp2 HG02723.hp1 others(6): Show HG01109.hp2 HG01952.hp2 HG02723.hp1 HG02897.hp1 HG02922.hp1 HG03486.hp1 HG03540.hp2 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0076 others(6): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0076 a0001c0001t0003g0295 a0001c0001t0003g0303 a0001c0001t0003g0305 a0001c0001t0006g0035 a0001c0001t0007g0300 a0001c0001t0007g0306	9	314	0.0287	2	c.249 others(15): Show c.2490-4_2490-3dupTT		IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	21/24				INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9438045	G G	GTTT GTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01243.hp2 HG02257.hp2 HG02622.hp1 others(6): Show HG01243.hp2 HG02257.hp2 HG02622.hp1 HG02723.hp2 HG02886.hp2 HG02895.hp2 HG03195.hp2 HG03471.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 others(1): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012	a0001c0001t0003g0294 a0001c0001t0003g0296 a0001c0001t0003g0297 others(6): Show a0001c0001t0003g0294 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0304 a0001c0001t0003g0308 a0001c0001t0006g0034 a0001c0001t0006g0036 a0001c0001t0007g0299 a0001c0001t0012g0307	9	314	0.0287	3	c.249 others(16): Show c.2490-5_2490-3dupTTT		IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	21/24				INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9438045	G G	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0010 a0001c0001t0004g0010	1	314	0.0032	16	c.249 others(30): Show c.2490-18_2490-3dupTTTTTTTTTTTTTTTT		IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	21/24				INFO_REALIGN_3_PRIME	chr11	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
ISCA2_chr14_74488765_74502106	74494273	A A	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01167.hp1 HG01167.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0010 a0002c0003t0002g0010	1	432	0.0023	0	c.175 others(5): Show c.175-2A>C		ISCA2	ENSG00000165898.14	transcript	ENST00000556816.6	protein_coding	2/3					chr14	TogoVar
ISCA2_chr14_74488765_74502106	74494274	G G	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01167.hp1 HG01167.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0010 a0002c0003t0002g0010	1	432	0.0023	0	c.175 others(5): Show c.175-1G>T		ISCA2	ENSG00000165898.14	transcript	ENST00000556816.6	protein_coding	2/3					chr14	TogoVar
ITGA10_chr1_145886208_145915050	145896353	CTG CTG	C C	splice_acceptor_variant others(2): Show splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00423.hp1 HG00621.hp2 NA18983.hp1 HG00423.hp1 HG00621.hp2 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0079	3	390	0.0077	-2	c.283 others(15): Show c.2835-3_2835-2delCA		ITGA10	ENSG00000143127.13	transcript	ENST00000369304.8	protein_coding	23/29					chr1	TogoVar
ITGA2_chr5_52984352_53099779	53078770	A A	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0039 a0001c0002t0006g0039	1	398	0.0025	0	c.282 others(6): Show c.2826-2A>G		ITGA2	ENSG00000164171.11	transcript	ENST00000296585.10	protein_coding	23/29					chr5	TogoVar
ITGA2_chr5_52984352_53099779	53078771	G G	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0039 a0001c0002t0006g0039	1	398	0.0025	0	c.282 others(6): Show c.2826-1G>T		ITGA2	ENSG00000164171.11	transcript	ENST00000296585.10	protein_coding	23/29					chr5	TogoVar
ITGAM_chr16_31254975_31337877	31331634	A A	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG03491.hp2 HG03491.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0085 a0002c0003t0003g0085	1	244	0.0041	0	c.338 others(6): Show c.3388-2A>G		ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding	29/29					chr16	TogoVar
ITGB2_chr21_44880953_44925899	44893545	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0298 a0001c0001t0001g0298	1	444	0.0023	0	c.108 others(6): Show c.1084-1G>A		ITGB2	ENSG00000160255.19	transcript	ENST00000652462.1	protein_coding	9/15					chr21	TogoVar
JMJD7_chr15_41823092_41842581	41836146	A A	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	386	0.0026	0	c.530 others(5): Show c.530-2A>G		JMJD7	ENSG00000243789.11	transcript	ENST00000397299.9	protein_coding	4/7					chr15	TogoVar
JOSD1_chr22_38680543_38705943	38689118	ACACCGAC others(21): Show ACACCGACATCCCTGCAGGGGAGAAATGG	A A	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA18991.hp2 NA18991.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0097 a0003c0004t0002g0097	1	376	0.0027	-28	c.315 others(38): Show c.315-17_325delCCATTTCTCCCCTGCAGGGATGTCGGTG	p.Arg others(5): Show p.Arg105fs	JOSD1	ENSG00000100221.11	transcript	ENST00000683374.1	protein_coding	4/5	1100/3743	315/609	105/202		chr22	TogoVar
JOSD2_chr19_50500998_50516191	50506574	T T	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	376	0.0027	0	c.273 others(5): Show c.273-2A>C		JOSD2	ENSG00000161677.12	transcript	ENST00000598418.6	protein_coding	3/4					chr19	TogoVar
KAT2A_chr17_42108111_42126367	42118011	ACTGAAGC others(32): Show ACTGAAGCTGAGGAGAGAGAGAGACGTCAGGGATGGGGGG	A A	splice_acceptor_variant others(3): Show splice_acceptor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	HG02615.hp2 HG02976.hp1 HG03098.hp2 others(10): Show HG02615.hp2 HG02976.hp1 HG03098.hp2 HG03209.hp2 HG03486.hp2 NA18906.hp1 NA18957.hp1 NA18977.hp1 NA19066.hp1 NA19077.hp2 NA19091.hp2 NA19240.hp1 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0014 a0002c0002 a0002c0014	a0002c0002t0001 a0002c0002t0002 a0002c0014t0001 a0002c0002t0001 a0002c0002t0002 a0002c0014t0001	a0002c0002t0001g0057 a0002c0002t0002g0007 a0002c0002t0002g0018 others(2): Show a0002c0002t0001g0057 a0002c0002t0002g0007 a0002c0002t0002g0018 a0002c0002t0002g0060 a0002c0014t0001g0027	13	354	0.0367	-39	c.118 others(51): Show c.1181-33_1186delCCCCCCATCCCTGACGTCTCTCTCTCTCCTCAG CTTCAG	p.Ala others(13): Show p.Ala394_Ser395del	KAT2A	ENSG00000108773.11	transcript	ENST00000225916.10	protein_coding	8/18	1249/3115	1181/2514	394/837		chr17	TogoVar
KBTBD8_chr3_66993307_67016210	67007905	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01884.hp1 HG02145.hp1 HG02559.hp2 others(13): Show HG01884.hp1 HG02145.hp1 HG02559.hp2 HG02630.hp2 HG02698.hp2 HG02723.hp2 HG03225.hp2 HG03453.hp2 HG03491.hp2 HG03540.hp2 HG03669.hp2 HG03688.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0011 a0001c0008t0005	a0001c0001t0001g0014 a0001c0001t0002g0055 a0001c0001t0005g0009 others(7): Show a0001c0001t0001g0014 a0001c0001t0002g0055 a0001c0001t0005g0009 a0001c0001t0005g0047 a0001c0001t0009g0069 a0001c0001t0011g0075 a0001c0001t0011g0076 a0001c0001t0011g0077 a0001c0001t0011g0078 a0001c0008t0005g0073	16	390	0.0410	1	c.134 others(7): Show c.1343-3dupT		KBTBD8	ENSG00000163376.11	transcript	ENST00000417314.2	protein_coding	3/3				INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNH4_chr17_42151891_42186142	42163289	AGGGGCCT others(135): Show AGGGGCCTCAGCTGTGCTGCCAGAGTCCTCAATGCCATCCACTATCCTGG GAACAGGGCAGTGCTCATCAGCACCATGGGGTGAGGGTAAGGGCCAGAGC AGAGCAGACAGAGGGGGACTGGGGGCAGCAGTGCCAGGGGGCG	A A	splice_acceptor_variant others(3): Show splice_acceptor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	NA18939.hp1 NA18939.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0049 a0006c0012t0001g0049	1	326	0.0031	-142	c.247 others(12): Show c.2478-97_2522del	p.Ile others(13): Show p.Ile827_Pro841del	KCNH4	ENSG00000089558.9	transcript	ENST00000264661.4	protein_coding	14/17	2719/3788	2478/3054	826/1017		chr17	TogoVar
KCNK6_chr19_38314845_38337076	38326592	G G	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18939.hp1 NA18951.hp2 NA18939.hp1 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0034 a0001c0001t0004g0035 a0001c0001t0004g0034 a0001c0001t0004g0035	2	398	0.0050	0	c.323 others(5): Show c.323-1G>A		KCNK6	ENSG00000099337.5	transcript	ENST00000263372.5	protein_coding	1/2					chr19	TogoVar
KDM4A_chr1_43645149_43710518	43660291	CA CA	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00323.hp1 HG00408.hp1 others(188): Show HG00099.hp1 HG00323.hp1 HG00408.hp1 HG00438.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01081.hp2 HG01106.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp2 HG01981.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18947.hp2 NA18950.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18966.hp2 NA18971.hp1 NA18979.hp1 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18987.hp2 NA18991.hp2 NA18993.hp2 NA18995.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19058.hp1 NA19064.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19075.hp1 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp2 NA19085.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0001c0010 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0003t0001 a0001c0005t0001 a0001c0010t0001 a0003c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(169): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0316 a0001c0001t0001g0318 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0330 a0001c0001t0002g0019 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0284 a0001c0001t0003g0242 a0001c0001t0003g0288 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0304 a0001c0001t0003g0305 a0001c0001t0003g0306 a0001c0001t0003g0317 a0001c0001t0003g0319 a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0105 a0001c0001t0007g0276 a0001c0003t0001g0287 a0001c0003t0001g0314 a0001c0003t0001g0315 a0001c0003t0001g0328 a0001c0005t0001g0024 a0001c0005t0001g0025 a0001c0005t0001g0026 a0001c0005t0001g0027 a0001c0005t0001g0033 a0001c0005t0001g0034 a0001c0010t0001g0022 a0003c0004t0001g0263 a0003c0004t0001g0265 a0003c0004t0001g0266 a0003c0004t0001g0267 a0003c0004t0001g0268 a0003c0004t0001g0270	191	370	0.5162	-1	c.315 others(6): Show c.315-2delA		KDM4A	ENSG00000066135.13	transcript	ENST00000372396.4	protein_coding	3/21				INFO_REALIGN_3_PRIME	chr1	TogoVar
KDR_chr4_55073481_55130595	55080164	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0300 a0001c0001t0001g0300	1	398	0.0025	0	c.384 others(6): Show c.3849-1G>A		KDR	ENSG00000128052.10	transcript	ENST00000263923.5	protein_coding	29/29					chr4	TogoVar
KIAA0513_chr16_85022795_85099218	85071765	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00423.hp1 HG00609.hp2 HG00621.hp2 others(108): Show HG00423.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp2 HG00735.hp2 HG01109.hp2 HG01243.hp1 HG01346.hp1 HG01433.hp1 HG01884.hp1 HG01884.hp2 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG02015.hp2 HG02129.hp1 HG02135.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03927.hp2 HG03942.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18959.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18974.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18988.hp2 NA18989.hp2 NA18993.hp1 NA18995.hp1 NA18998.hp1 NA19001.hp2 NA19010.hp1 NA19010.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19063.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp1 NA19079.hp1 NA19080.hp1 NA19082.hp2 NA19087.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0010 a0001c0001 a0001c0005 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0020 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0001t0033 a0001c0001t0042 a0001c0001t0044 a0001c0001t0045 a0001c0001t0048 a0001c0001t0049 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0055 a0001c0001t0057 a0001c0001t0063 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0095 a0001c0001t0105 a0001c0001t0106 a0001c0001t0107 a0001c0001t0113 a0001c0005t0019 a0001c0010t0001	a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0022 others(106): Show a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0062 a0001c0001t0001g0101 a0001c0001t0001g0177 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0272 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0006g0001 a0001c0001t0006g0040 a0001c0001t0006g0105 a0001c0001t0006g0132 a0001c0001t0006g0295 a0001c0001t0006g0296 a0001c0001t0006g0299 a0001c0001t0006g0303 a0001c0001t0006g0304 a0001c0001t0006g0319 a0001c0001t0011g0238 a0001c0001t0011g0259 a0001c0001t0012g0016 a0001c0001t0012g0324 a0001c0001t0012g0328 a0001c0001t0012g0329 a0001c0001t0013g0285 a0001c0001t0013g0302 a0001c0001t0013g0308 a0001c0001t0013g0315 a0001c0001t0020g0194 a0001c0001t0026g0233 a0001c0001t0028g0264 a0001c0001t0028g0273 a0001c0001t0029g0278 a0001c0001t0029g0314 a0001c0001t0032g0014 a0001c0001t0032g0256 a0001c0001t0033g0321 a0001c0001t0033g0322 a0001c0001t0042g0207 a0001c0001t0044g0023 a0001c0001t0044g0036 a0001c0001t0045g0099 a0001c0001t0045g0100 a0001c0001t0048g0248 a0001c0001t0049g0294 a0001c0001t0051g0312 a0001c0001t0052g0291 a0001c0001t0053g0001 a0001c0001t0055g0228 a0001c0001t0057g0229 a0001c0001t0063g0334 a0001c0001t0067g0042 a0001c0001t0068g0225 a0001c0001t0069g0297 a0001c0001t0071g0236 a0001c0001t0072g0254 a0001c0001t0073g0098 a0001c0001t0074g0318 a0001c0001t0075g0252 a0001c0001t0095g0262 a0001c0001t0105g0206 a0001c0001t0106g0016 a0001c0001t0107g0208 a0001c0001t0113g0025 a0001c0005t0019g0095 a0001c0010t0001g0219	111	390	0.2846	1	c.330 others(6): Show c.330-3dupT		KIAA0513	ENSG00000135709.14	transcript	ENST00000683363.1	protein_coding	2/12				INFO_REALIGN_3_PRIME	chr16	TogoVar
KIAA0513_chr16_85022795_85099218	85071781	A A	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0343 a0001c0001t0004g0343	1	390	0.0026	0	c.330 others(5): Show c.330-2A>T		KIAA0513	ENSG00000135709.14	transcript	ENST00000683363.1	protein_coding	2/12					chr16	TogoVar
KIAA0513_chr16_85022795_85099218	85071782	G G	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0343 a0001c0001t0004g0343	1	390	0.0026	0	c.330 others(5): Show c.330-1G>A		KIAA0513	ENSG00000135709.14	transcript	ENST00000683363.1	protein_coding	2/12					chr16	TogoVar
KIF6_chr6_39324990_39730408	39639758	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0078 a0001c0001t0025g0078	1	174	0.0058	0	c.252 others(5): Show c.252-1G>A		KIF6	ENSG00000164627.18	transcript	ENST00000287152.12	protein_coding	3/22					chr6	TogoVar
KIR3DL1_chr19_54811468_54835778	54825019	ATGTTCTA others(6): Show ATGTTCTAGGAAAC	A A	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA20300.hp1 NA20300.hp1	a0021 a0021	a0021c0031 a0021c0031	a0021c0031t0001 a0021c0031t0001	a0021c0031t0001g0089 a0021c0031t0001g0089	1	395	0.0025	-13	c.950 others(22): Show c.950-8_954delTGTTCTAGGAAAC	p.Gly others(5): Show p.Gly317fs	KIR3DL1	ENSG00000167633.18	transcript	ENST00000391728.8	protein_coding	6/9		950/1335	317/444		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
KLK6_chr19_50953631_50974591	50968592	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01070.hp1 HG02055.hp1 HG02258.hp2 others(7): Show HG01070.hp1 HG02055.hp1 HG02258.hp2 HG02615.hp1 HG02630.hp2 HG02970.hp2 HG03130.hp1 HG03453.hp2 HG03516.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 others(7): Show a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0002t0001g0066	10	316	0.0317	0	c.-59 others(5): Show c.-59-1G>A		KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	1/6					chr19	TogoVar
KMT2C_chr7_152129925_152441003	152178011	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00438.hp1 HG02071.hp2 HG02523.hp2 others(6): Show HG00438.hp1 HG02071.hp2 HG02523.hp2 HG02818.hp2 HG03516.hp2 NA18747.hp1 NA18940.hp1 NA18970.hp1 NA19010.hp1	a0001 a0006 a0001 a0006	a0001c0006 a0006c0010 a0001c0006 a0006c0010	a0001c0006t0002 a0006c0010t0001 a0001c0006t0002 a0006c0010t0001	a0001c0006t0002g0095 a0001c0006t0002g0096 a0001c0006t0002g0097 others(6): Show a0001c0006t0002g0095 a0001c0006t0002g0096 a0001c0006t0002g0097 a0001c0006t0002g0098 a0001c0006t0002g0099 a0001c0006t0002g0100 a0001c0006t0002g0127 a0006c0010t0001g0168 a0006c0010t0001g0169	9	172	0.0523	1	c.744 others(7): Show c.7443-2dupA		KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	37/58					chr7	TogoVar
KMT2D_chr12_49013978_49065794	49048771	T T	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA19068.hp1 NA19068.hp1	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0001 a0007c0014t0001	a0007c0014t0001g0187 a0007c0014t0001g0187	1	302	0.0033	0	c.402 others(6): Show c.4021-2A>G		KMT2D	ENSG00000167548.18	transcript	ENST00000301067.12	protein_coding	13/54					chr12	TogoVar

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