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	distance	status	chr	external
KLK8_chr19_50991008_51006604	51004338	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	420	0.0024	-21	c.-28 others(32): Show c.-2836_-2816delTTTTTTTTTTTTTTTTTTTTT		KLK8	ENSG00000129455.16	transcript	ENST00000695909.1	protein_coding					2735		chr19	TogoVar
KLK9_chr19_50997508_51014592	51004338	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0170 a0001c0002t0002g0170	1	438	0.0023	-21	c.467 others(36): Show c.467-519_467-499delTTTTTTTTTTTTTTTTTTTTT		KLK9	ENSG00000213022.6	transcript	ENST00000594211.2	protein_coding	3/4						chr19	TogoVar
KLRC3_chr12_10407315_10425595	10423355	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG00558.hp2 others(59): Show HG00423.hp1 HG00544.hp2 HG00558.hp2 HG00639.hp2 HG00733.hp2 HG01099.hp2 HG01106.hp1 HG01255.hp1 HG01346.hp2 HG01981.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02071.hp1 HG02165.hp1 HG03654.hp1 HG03710.hp1 HG04184.hp1 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18946.hp2 NA18948.hp2 NA18957.hp1 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18972.hp2 NA18977.hp1 NA18980.hp2 NA18984.hp1 NA18990.hp1 NA18991.hp1 NA18992.hp2 NA18993.hp2 NA18997.hp1 NA18998.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp2 NA19012.hp1 NA19062.hp1 NA19063.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19080.hp2 NA19082.hp1 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19090.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0018 others(7): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060	62	448	0.1384	-21	c.-28 others(32): Show c.-2826_-2806delATATTTTTTTTTTTTTTTTTT		KLRC3	ENSG00000205810.9	transcript	ENST00000396439.7	protein_coding					2761		chr12	TogoVar
KLRC3_chr12_10407315_10425595	10423357	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00639.hp1 HG00642.hp1 others(27): Show HG00323.hp1 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01109.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp2 HG01243.hp2 HG01261.hp1 HG01358.hp2 HG02074.hp2 HG02280.hp1 HG02622.hp1 HG02630.hp2 HG02809.hp1 HG03195.hp1 HG03579.hp2 HG04115.hp2 NA18906.hp1 NA19030.hp2 NA19064.hp2 NA19075.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 others(4): Show a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0001g0063 a0001c0001t0001g0066	30	448	0.0670	-21	c.-28 others(32): Show c.-2828_-2808delATATATTTTTTTTTTTTTTTT		KLRC3	ENSG00000205810.9	transcript	ENST00000396439.7	protein_coding					2763		chr12	TogoVar
KLRC3_chr12_10407315_10425595	10423359	AAAAAAAA others(14): Show AAAAAAAAAAAAAAATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01891.hp2 HG02155.hp1 others(11): Show HG01081.hp2 HG01891.hp2 HG02155.hp1 HG02451.hp2 HG02572.hp1 HG02615.hp2 HG03471.hp2 HG03486.hp1 HG03710.hp2 HG06807.hp1 NA18962.hp2 NA18990.hp2 NA19043.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0032 others(5): Show a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0032 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067	14	448	0.0313	-21	c.-28 others(32): Show c.-2830_-2810delATATATATTTTTTTTTTTTTT		KLRC3	ENSG00000205810.9	transcript	ENST00000396439.7	protein_coding					2765		chr12	TogoVar
KLRC3_chr12_10407315_10425595	10423361	AAAAAAAA others(14): Show AAAAAAAAAAAAATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG03225.hp1 HG03453.hp2 HG02145.hp2 HG03225.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0019 a0001c0001t0001g0003 a0001c0001t0001g0019	3	448	0.0067	-21	c.-28 others(32): Show c.-2832_-2812delATATATATATTTTTTTTTTTT		KLRC3	ENSG00000205810.9	transcript	ENST00000396439.7	protein_coding					2767		chr12	TogoVar
KLRG2_chr7_139447690_139488673	139454819	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02809.hp1 HG02895.hp1 others(6): Show HG02451.hp2 HG02809.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG03195.hp1 HG03516.hp1 NA20129.hp2	a0003 a0007 a0003 a0007	a0003c0005 a0007c0010 a0003c0005 a0007c0010	a0003c0005t0001 a0007c0010t0001 a0003c0005t0001 a0007c0010t0001	a0003c0005t0001g0037 a0003c0005t0001g0329 a0003c0005t0001g0341 others(4): Show a0003c0005t0001g0037 a0003c0005t0001g0329 a0003c0005t0001g0341 a0003c0005t0001g0342 a0007c0010t0001g0033 a0007c0010t0001g0287 a0007c0010t0001g0288	9	402	0.0224	-21	c.100 others(38): Show c.1006-626_1006-606delATTATTATTATTATTATTATT		KLRG2	ENSG00000188883.5	transcript	ENST00000340940.5	protein_coding	3/4						chr7	TogoVar
KMT2C_chr7_152129925_152441003	152290282	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0059 a0002c0002t0002g0059	1	172	0.0058	-21	c.850 others(40): Show c.850-16436_850-16416delAAAAAAAAATATATATATATA		KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	6/58						chr7	TogoVar
KNDC1_chr10_133155219_133231412	133169563	TGCCCCAG others(14): Show TGCCCCAGGAGGCCTCTGCTGC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0028 a0003c0015t0028	a0003c0015t0028g0109 a0003c0015t0028g0109	1	332	0.0030	-21	c.360 others(38): Show c.360+1253_360+1273delCCCCAGGAGGCCTCTGCTGCG		KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	3/29					INFO_REALIGN_3_PRIME	chr10	TogoVar
KNG1_chr3_186712359_186749410	186730674	AAAAAAAA others(14): Show AAAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02818.hp2 HG01175.hp2 HG02818.hp2	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0028 a0007c0015t0028	a0007c0015t0028g0215 a0007c0015t0028g0239 a0007c0015t0028g0215 a0007c0015t0028g0239	2	430	0.0047	-21	c.673 others(36): Show c.673-869_673-849delAAAAAAAAATATATATATATA		KNG1	ENSG00000113889.14	transcript	ENST00000644859.2	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
KNG1_chr3_186712359_186749410	186730676	AAAAAAAA others(14): Show AAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG02486.hp2 others(6): Show HG01168.hp2 HG01169.hp1 HG02486.hp2 HG02965.hp1 HG03017.hp2 HG03098.hp2 HG03139.hp2 HG03225.hp2 NA20129.hp2	a0002 a0003 a0002 a0003	a0002c0010 a0002c0011 a0003c0005 a0002c0010 a0002c0011 a0003c0005	a0002c0010t0006 a0002c0010t0025 a0002c0011t0006 others(1): Show a0002c0010t0006 a0002c0010t0025 a0002c0011t0006 a0003c0005t0003	a0002c0010t0006g0038 a0002c0010t0006g0186 a0002c0010t0006g0187 others(4): Show a0002c0010t0006g0038 a0002c0010t0006g0186 a0002c0010t0006g0187 a0002c0010t0025g0185 a0002c0011t0006g0146 a0003c0005t0003g0052 a0003c0005t0003g0182	9	430	0.0209	-21	c.673 others(36): Show c.673-867_673-847delAAAAAAATATATATATATATA		KNG1	ENSG00000113889.14	transcript	ENST00000644859.2	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
KNG1_chr3_186712359_186749410	186730678	AAAAAAAT others(14): Show AAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01258.hp1 HG01496.hp1 others(12): Show HG01099.hp2 HG01258.hp1 HG01496.hp1 HG01884.hp1 HG01934.hp1 HG02055.hp1 HG02145.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG03098.hp1 HG03927.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0016 a0001c0001 a0002c0002 a0002c0016	a0001c0001t0001 a0002c0002t0001 a0002c0002t0008 others(4): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0008 a0002c0002t0024 a0002c0002t0032 a0002c0016t0001 a0002c0016t0018	a0001c0001t0001g0334 a0002c0002t0001g0195 a0002c0002t0001g0196 others(11): Show a0001c0001t0001g0334 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0198 a0002c0002t0001g0202 a0002c0002t0008g0041 a0002c0002t0008g0190 a0002c0002t0008g0205 a0002c0002t0008g0206 a0002c0002t0024g0336 a0002c0002t0032g0254 a0002c0016t0001g0145 a0002c0016t0018g0144 a0002c0016t0018g0151	15	430	0.0349	-21	c.673 others(36): Show c.673-865_673-845delAAAAATATATATATATATATA		KNG1	ENSG00000113889.14	transcript	ENST00000644859.2	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
KNG1_chr3_186712359_186749410	186730680	AAAAATAT others(14): Show AAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01070.hp1 HG01106.hp2 others(2): Show HG00741.hp1 HG01070.hp1 HG01106.hp2 NA18967.hp2 NA18978.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0005 a0002c0002t0013 a0002c0002t0001 a0002c0002t0005 a0002c0002t0013	a0002c0002t0001g0217 a0002c0002t0001g0227 a0002c0002t0001g0240 others(2): Show a0002c0002t0001g0217 a0002c0002t0001g0227 a0002c0002t0001g0240 a0002c0002t0005g0203 a0002c0002t0013g0177	5	430	0.0116	-21	c.673 others(36): Show c.673-863_673-843delAAATATATATATATATATATA		KNG1	ENSG00000113889.14	transcript	ENST00000644859.2	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
KNL1_chr15_40589249_40669342	40590226	TCTTTTTT others(14): Show TCTTTTTTCTTTCTTGTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02976.hp2 HG02886.hp1 HG02976.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0094 a0002c0002t0001g0095	2	370	0.0054	-21	c.-41 others(32): Show c.-4183_-4163delCTTTTTTCTTTCTTGTCTTTC		KNL1	ENSG00000137812.21	transcript	ENST00000399668.7	protein_coding					4022		chr15	TogoVar
KNTC1_chr12_122522249_122631396	122579025	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 NA18522.hp2 HG00280.hp2 NA18522.hp2	a0002 a0003 a0002 a0003	a0002c0009 a0003c0004 a0002c0009 a0003c0004	a0002c0009t0001 a0003c0004t0001 a0002c0009t0001 a0003c0004t0001	a0002c0009t0001g0201 a0003c0004t0001g0028 a0002c0009t0001g0201 a0003c0004t0001g0028	2	320	0.0063	-21	c.284 others(38): Show c.2842-843_2842-823delTTTTTTTTTTTTTTTTTTTTT		KNTC1	ENSG00000184445.12	transcript	ENST00000333479.12	protein_coding	31/63					INFO_REALIGN_3_PRIME	chr12	TogoVar
KNTC1_chr12_122522249_122631396	122600115	TTTGAGAT others(14): Show TTTGAGATGAAATCTCACCCTG	T T	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	320	0.0031	-21	c.456 others(40): Show c.4564-1417_4564-1397delAGATGAAATCTCACCCTGTTG		KNTC1	ENSG00000184445.12	transcript	ENST00000333479.12	protein_coding	44/63					INFO_REALIGN_3_PRIME	chr12	TogoVar
KPNA5_chr6_116676211_116746867	116683896	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG02109.hp2 others(15): Show HG01884.hp1 HG02055.hp2 HG02109.hp2 HG02451.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02896.hp2 HG02970.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03453.hp2 NA18906.hp1 NA19043.hp2 NA20805.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0001c0001t0011 a0001c0001t0012 others(3): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0012 a0001c0001t0016 a0001c0001t0038 a0004c0006t0045	a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0149 others(15): Show a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0011g0139 a0001c0001t0012g0144 a0001c0001t0012g0145 a0001c0001t0012g0146 a0001c0001t0012g0147 a0001c0001t0016g0138 a0001c0001t0016g0140 a0001c0001t0016g0141 a0001c0001t0038g0153 a0004c0006t0045g0148	18	344	0.0523	-21	c.4+2 others(34): Show c.4+2572_4+2592delTTTTTTTTTTTTTTTTTTTTT		KPNA5	ENSG00000196911.12	transcript	ENST00000368564.7	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr6	TogoVar
KPNA6_chr1_32103056_32181563	32141375	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00544.hp1 others(28): Show HG00099.hp1 HG00408.hp1 HG00544.hp1 HG00558.hp1 HG00673.hp1 HG01081.hp1 HG01081.hp2 HG01255.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01934.hp2 HG02056.hp2 HG02129.hp2 HG02155.hp2 HG02280.hp2 HG02622.hp1 HG02922.hp2 HG03209.hp1 HG04204.hp2 HG06807.hp1 NA18906.hp1 NA18953.hp1 NA18955.hp2 NA19011.hp2 NA19065.hp2 NA19067.hp2 NA19074.hp1 NA19088.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0013 others(10): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0013 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0031 a0001c0001t0039 a0001c0001t0050 a0001c0001t0051	a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 others(28): Show a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0122 a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0209 a0001c0001t0001g0217 a0001c0001t0005g0113 a0001c0001t0013g0162 a0001c0001t0013g0173 a0001c0001t0019g0180 a0001c0001t0020g0075 a0001c0001t0020g0236 a0001c0001t0021g0120 a0001c0001t0025g0072 a0001c0001t0026g0218 a0001c0001t0028g0184 a0001c0001t0031g0186 a0001c0001t0039g0131 a0001c0001t0050g0077 a0001c0001t0051g0073	31	244	0.1271	-21	c.5-1 others(36): Show c.5-13193_5-13173delTTTTTTTTTTTTTTTTTTTTT		KPNA6	ENSG00000025800.14	transcript	ENST00000373625.8	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
KPNA7_chr7_99168572_99213115	99178771	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0086 a0001c0003t0001g0086	1	334	0.0030	-21	c.131 others(38): Show c.1318-726_1318-706delTTTTTTTTTTTTTTTTTTTTT		KPNA7	ENSG00000185467.8	transcript	ENST00000327442.7	protein_coding	9/10						chr7	TogoVar
KPNA7_chr7_99168572_99213115	99187796	TTTTAAAA others(14): Show TTTTAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02622.hp2 HG01891.hp1 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0164 a0001c0001t0001g0124 a0001c0001t0001g0164	2	334	0.0060	-21	c.900 others(36): Show c.900+483_900+503delTTTTTTTTTTTTTTTTTTAAA		KPNA7	ENSG00000185467.8	transcript	ENST00000327442.7	protein_coding	7/10						chr7	TogoVar
KPNB1_chr17_47644919_47690505	47646412	CTAGTGCT others(14): Show CTAGTGCTGAGCGGAGGCAAGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0043 a0001c0003t0002g0043	1	384	0.0026	-21	c.-38 others(32): Show c.-3832_-3812delTAGTGCTGAGCGGAGGCAAGA		KPNB1	ENSG00000108424.11	transcript	ENST00000290158.9	protein_coding					3506		chr17	TogoVar
KRR1_chr12_75485863_75516609	75486495	CAAGGTCA others(14): Show CAAGGTCACACTGTAAGTGGCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	368	0.0027	-21	c.13 others(34): Show c.13293_*13313delTGCCACTTACAGTGTGACCTT		KRR1	ENSG00000111615.14	transcript	ENST00000229214.9	protein_coding					4367		chr12	TogoVar
KRT19_chr17_41518617_41533308	41531341	CCCTGTCA others(14): Show CCCTGTCAAATAAGATCGGAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02145.hp1 HG02258.hp1 others(4): Show HG02055.hp2 HG02145.hp1 HG02258.hp1 HG02559.hp2 HG02970.hp2 HG03225.hp1 HG03453.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0015 a0002c0002t0001g0035 a0002c0002t0001g0041 a0002c0002t0001g0015 a0002c0002t0001g0035 a0002c0002t0001g0041	7	368	0.0190	-21	c.-31 others(32): Show c.-3115_-3095delTTTCCGATCTTATTTGACAGG		KRT19	ENSG00000171345.13	transcript	ENST00000361566.7	protein_coding					3034		chr17	TogoVar
KRT1_chr12_52669736_52685407	52675438	CACCTCCG others(14): Show CACCTCCGGAGCCGTAGCTGCT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00280.hp1 HG00280.hp2 HG00408.hp1 others(132): Show HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00544.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG01069.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01952.hp2 HG01993.hp1 HG02015.hp1 HG02071.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02148.hp2 HG02257.hp1 HG02273.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04228.hp1 HG04228.hp2 NA18747.hp1 NA18906.hp1 NA18940.hp2 NA18941.hp2 NA18946.hp2 NA18950.hp2 NA18953.hp2 NA18954.hp1 NA18960.hp1 NA18961.hp1 NA18966.hp1 NA18974.hp1 NA18975.hp2 NA18977.hp2 NA18982.hp2 NA18983.hp2 NA18991.hp1 NA18993.hp1 NA18999.hp1 NA19001.hp1 NA19003.hp1 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19060.hp2 NA19063.hp1 NA19064.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19077.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0007 others(2): Show a0001 a0005 a0007 a0012 a0013	a0001c0001 a0001c0008 a0001c0024 others(4): Show a0001c0001 a0001c0008 a0001c0024 a0005c0009 a0007c0007 a0012c0021 a0013c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0008t0001 a0001c0024t0001 a0005c0009t0002 a0007c0007t0001 a0012c0021t0001 a0013c0020t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0009 others(19): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0002g0010 a0001c0001t0005g0047 a0001c0001t0007g0046 a0001c0008t0001g0020 a0001c0024t0001g0057 a0005c0009t0002g0022 a0007c0007t0001g0017 a0012c0021t0001g0050 a0013c0020t0001g0048	135	398	0.3392	-21	c.166 others(30): Show c.1669_1689delAGCAGCTACGGCTCCGGAGGT	p.Ser others(13): Show p.Ser557_Gly563del	KRT1	ENSG00000167768.4	transcript	ENST00000252244.3	protein_coding	9/9	1748/2451	1669/1935	557/644			chr12	TogoVar
KRT23_chr17_40917700_40942646	40936106	ATGCCATT others(14): Show ATGCCATTTTCCTGGAAATTGT	A A	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0159 a0004c0004t0001g0159	1	437	0.0023	-21	c.396 others(35): Show c.396+81_396+101delACAATTTCCAGGAAAATGGCA		KRT23	ENSG00000108244.17	transcript	ENST00000209718.8	protein_coding	2/8						chr17	TogoVar
KRT25_chr17_40743021_40760331	40753683	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02717.hp2 HG02922.hp2 others(1): Show HG02109.hp2 HG02717.hp2 HG02922.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0167 a0001c0001t0001g0168 others(1): Show a0001c0001t0001g0102 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169	4	426	0.0094	-21	c.669 others(36): Show c.669+156_669+176delTTTTTTTTTTTTTTTTTTTTT		KRT25	ENSG00000204897.7	transcript	ENST00000312150.5	protein_coding	3/7						chr17	TogoVar
KRT40_chr17_40972715_40989326	40974322	AGGGAATT others(14): Show AGGGAATTTTCTTTAGTCATTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	451	0.0022	-21	c.38 others(32): Show c.3854_*3874delCAATGACTAAAGAAAATTCCC		KRT40	ENSG00000204889.11	transcript	ENST00000377755.9	protein_coding					3392		chr17	TogoVar
KRT74_chr12_52560782_52578843	52567740	TCCACTAA others(14): Show TCCACTAAACATCAATGGGCTC	T T	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0105 a0003c0002t0001g0105	1	448	0.0022	-21	c.135 others(36): Show c.1356-68_1356-48delGAGCCCATTGATGTTTAGTGG		KRT74	ENSG00000170484.10	transcript	ENST00000305620.3	protein_coding	7/8						chr12	TogoVar
KRT78_chr12_52832807_52853994	52843026	GAGGGAGG others(14): Show GAGGGAGGGAGGGAGGGAGGGA	G G	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18980.hp2 NA19060.hp1 NA18946.hp2 NA18980.hp2 NA19060.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0032 a0002c0002t0001g0070 a0002c0002t0001g0032 a0002c0002t0001g0070	3	410	0.0073	-21	c.104 others(40): Show c.1047+1046_1047+1066delTCCCTCCCTCCCTCCCTCCCT		KRT78	ENSG00000170423.13	transcript	ENST00000304620.5	protein_coding	6/8						chr12	TogoVar
KRTAP10-1_chr21_44533981_44545195	44534205	TTGTGTGA others(14): Show TTGTGTGAGGGGGCGGGGCTGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02886.hp2 HG01891.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	438	0.0046	-21	c.50 others(32): Show c.5076_*5096delCCAGCCCCGCCCCCTCACACA		KRTAP10-1	ENSG00000215455.4	transcript	ENST00000400375.1	protein_coding					4775		chr21	TogoVar
KRTAP16-1_chr17_41302700_41314309	41310388	AGGAAAGA others(14): Show AGGAAAGAAAGAAAGAAAGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01358.hp2 HG02004.hp1 others(23): Show HG00639.hp1 HG01358.hp2 HG02004.hp1 HG02015.hp1 HG02040.hp1 HG02083.hp2 HG02602.hp1 HG02886.hp2 HG02976.hp1 HG03130.hp2 HG03471.hp1 HG03688.hp1 HG03927.hp1 HG03942.hp1 NA18950.hp1 NA18970.hp1 NA18970.hp2 NA18984.hp2 NA18990.hp1 NA19009.hp2 NA19057.hp2 NA19063.hp1 NA19072.hp2 NA19081.hp2 NA19083.hp2 NA19091.hp2	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0001 a0002c0005t0001 a0002c0002t0001 a0002c0005t0001	a0002c0002t0001g0000 a0002c0005t0001g0000 a0002c0002t0001g0000 a0002c0005t0001g0000	26	421	0.0618	-21	c.-11 others(32): Show c.-1156_-1136delCTTCTTTCTTTCTTTCTTTCC		KRTAP16-1	ENSG00000212657.2	transcript	ENST00000391352.2	protein_coding					1080		chr17	TogoVar
KRTAP17-1_chr17_41309912_41320710	41310388	AGGAAAGA others(14): Show AGGAAAGAAAGAAAGAAAGAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01358.hp1 HG02004.hp1 others(23): Show HG00639.hp2 HG01358.hp1 HG02004.hp1 HG02015.hp1 HG02040.hp1 HG02083.hp2 HG02602.hp2 HG02886.hp1 HG02976.hp1 HG03130.hp2 HG03195.hp1 HG03471.hp2 HG03688.hp2 HG03927.hp1 HG03942.hp1 NA18950.hp1 NA18984.hp2 NA18986.hp1 NA18990.hp1 NA19001.hp2 NA19009.hp2 NA19057.hp1 NA19063.hp1 NA19081.hp2 NA19083.hp1 NA19091.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 others(1): Show a0001c0001 a0002c0002 a0003c0004 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0002c0002t0005 a0003c0004t0001 a0003c0005t0001	a0001c0001t0001g0000 a0001c0001t0002g0000 a0002c0002t0002g0000 others(3): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0002c0002t0002g0000 a0002c0002t0005g0000 a0003c0004t0001g0000 a0003c0005t0001g0000	26	413	0.0630	-21	c.49 others(32): Show c.4924_*4944delCTTCTTTCTTTCTTTCTTTCC		KRTAP17-1	ENSG00000186860.5	transcript	ENST00000334202.5	protein_coding					4523		chr17	TogoVar
KRTAP20-1_chr21_30611425_30621699	30613810	CAGCCCAG others(14): Show CAGCCCAGGCCTCCATAGCCAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	376	0.0027	-21	c.-26 others(32): Show c.-2644_-2624delAGCCCAGGCCTCCATAGCCAT		KRTAP20-1	ENSG00000244624.3	transcript	ENST00000334664.3	protein_coding					2614		chr21	TogoVar
KRTAP22-2_chr21_30585105_30595397	30592591	TTGGCTAT others(14): Show TTGGCTATGGAGGCCTGGACTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	434	0.0023	-21	c.-22 others(32): Show c.-2238_-2218delCAGTCCAGGCCTCCATAGCCA		KRTAP22-2	ENSG00000206106.2	transcript	ENST00000382830.2	protein_coding					2195		chr21	TogoVar
KRTAP3-3_chr17_40988430_40999164	40995967	ATTCCTCC others(14): Show ATTCCTCCACTTAGAAGATTAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	471	0.0021	-21	c.-18 others(32): Show c.-1891_-1871delATAATCTTCTAAGTGGAGGAA		KRTAP3-3	ENSG00000212899.3	transcript	ENST00000391586.3	protein_coding					1804		chr17	TogoVar
KRTAP4-4_chr17_41154649_41165748	41158501	GGAAGAAG others(14): Show GGAAGAAGAAGAAGAAGAAGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp2 HG02970.hp2 HG02273.hp2 HG02970.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0005c0005t0001 a0001c0001t0001 a0005c0005t0001	a0001c0001t0001g0000 a0005c0005t0001g0000 a0001c0001t0001g0000 a0005c0005t0001g0000	2	420	0.0048	-21	c.16 others(32): Show c.1669_*1689delTTCTTCTTCTTCTTCTTCTTC		KRTAP4-4	ENSG00000171396.12	transcript	ENST00000390661.5	protein_coding					1147		chr17	TogoVar
KRTAP4-4_chr17_41154649_41165748	41158561	AGAAGAAG others(14): Show AGAAGAAGAAGAAGAAGAGGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01109.hp2 HG03704.hp1 others(3): Show HG01069.hp2 HG01109.hp2 HG03704.hp1 HG03834.hp2 NA18950.hp1 NA19001.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0000 a0002c0002t0003g0000 a0001c0001t0001g0000 a0002c0002t0003g0000	6	420	0.0143	-21	c.16 others(32): Show c.1609_*1629delCTCCTCTTCTTCTTCTTCTTC		KRTAP4-4	ENSG00000171396.12	transcript	ENST00000390661.5	protein_coding					1087		chr17	TogoVar
KRTAP4-4_chr17_41154649_41165748	41158567	AGAAGAAG others(14): Show AGAAGAAGAAGAGGAGGAGGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG03453.hp2 HG02055.hp1 HG03453.hp2	a0006 a0008 a0006 a0008	a0006c0006 a0008c0009 a0006c0006 a0008c0009	a0006c0006t0002 a0008c0009t0002 a0006c0006t0002 a0008c0009t0002	a0006c0006t0002g0000 a0008c0009t0002g0000 a0006c0006t0002g0000 a0008c0009t0002g0000	2	420	0.0048	-21	c.16 others(32): Show c.1603_*1623delCTCCTCCTCCTCTTCTTCTTC		KRTAP4-4	ENSG00000171396.12	transcript	ENST00000390661.5	protein_coding					1081		chr17	TogoVar
KRTAP4-4_chr17_41154649_41165748	41158570	AGAAGAAG others(14): Show AGAAGAAGAGGAGGAGGAGGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0002 a0006c0006t0002	a0006c0006t0002g0000 a0006c0006t0002g0000	1	420	0.0024	-21	c.16 others(32): Show c.1600_*1620delCTCCTCCTCCTCCTCTTCTTC		KRTAP4-4	ENSG00000171396.12	transcript	ENST00000390661.5	protein_coding					1078		chr17	TogoVar
KRTAP5-1_chr11_1579342_1590283	1585151	AGAGCCAC others(14): Show AGAGCCACAGCCCCCACAGCCG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02004.hp2 HG02004.hp2	a0013 a0013	a0013c0019 a0013c0019	a0013c0019t0001 a0013c0019t0001	a0013c0019t0001g0000 a0013c0019t0001g0000	1	429	0.0023	-21	c.78_ others(26): Show c.78_98delCGGCTGTGGGGGCTGTGGCTC	p.Gly others(11): Show p.Gly27_Ser33del	KRTAP5-1	ENSG00000205869.2	transcript	ENST00000382171.2	protein_coding	1/1	132/942	78/837	26/278			chr11	TogoVar
KRTAP5-3_chr11_1602565_1613463	1608307	CGGAGCCA others(14): Show CGGAGCCACAGCCCCCACAGCT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA20129.hp2 NA20129.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0000 a0005c0011t0001g0000	1	427	0.0023	-21	c.58_ others(26): Show c.58_78delAGCTGTGGGGGCTGTGGCTCC	p.Ser others(11): Show p.Ser20_Ser26del	KRTAP5-3	ENSG00000196224.7	transcript	ENST00000399685.1	protein_coding	1/1	156/899	58/717	20/238			chr11	TogoVar
KRTAP5-4_chr11_1615958_1627138	1621995	GGAGCCAC others(14): Show GGAGCCACAGCCCCCACAGCCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02523.hp2 HG02523.hp2	a0015 a0015	a0015c0016 a0015c0016	a0015c0016t0001 a0015c0016t0001	a0015c0016t0001g0000 a0015c0016t0001g0000	1	427	0.0023	-21	c.78_ others(26): Show c.78_98delTGGCTGTGGGGGCTGTGGCTC	p.Gly others(11): Show p.Gly27_Ser33del	KRTAP5-4	ENSG00000241598.6	transcript	ENST00000399682.1	protein_coding	1/1	143/1181	78/687	26/228			chr11	TogoVar
KRTAP6-1_chr21_30608431_30618930	30613810	CAGCCCAG others(14): Show CAGCCCAGGCCTCCATAGCCAT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03710.hp1 HG03710.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0000 a0005c0006t0001g0000	1	380	0.0026	-21	c.74_ others(26): Show c.74_94delATGGCTATGGAGGCCTGGGCT	p.Tyr others(11): Show p.Tyr25_Gly31del	KRTAP6-1	ENSG00000184724.5	transcript	ENST00000329122.2	protein_coding	1/1	120/500	74/216	25/71			chr21	TogoVar
KRTAP6-3_chr21_30587440_30598075	30592591	TTGGCTAT others(14): Show TTGGCTATGGAGGCCTGGACTG	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18959.hp1 NA18959.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0000 a0008c0009t0001g0000	1	434	0.0023	-21	c.164 others(28): Show c.164_184delACTGTGGCTATGGAGGCCTGG	p.Asp others(11): Show p.Asp55_Leu61del	KRTAP6-3	ENSG00000212938.3	transcript	ENST00000391624.1	protein_coding	1/1	170/636	164/333	55/110		INFO_REALIGN_3_PRIME	chr21	TogoVar
KRTCAP3_chr2_27437381_27449297	27439995	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp1 others(94): Show HG00099.hp1 HG00280.hp2 HG00323.hp1 HG00597.hp1 HG00639.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01928.hp2 HG01952.hp1 HG01981.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02071.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02145.hp2 HG02258.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02886.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03225.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03669.hp2 HG03688.hp1 HG03831.hp2 HG03927.hp1 HG04199.hp2 HG04228.hp1 NA18747.hp1 NA18939.hp2 NA18950.hp2 NA18955.hp1 NA18966.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp2 NA18985.hp1 NA18988.hp2 NA18990.hp2 NA19000.hp1 NA19079.hp1 NA19084.hp2 NA19085.hp1 NA19088.hp2 NA19091.hp1 NA20129.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0005t0001g0002	97	286	0.3392	-21	c.-24 others(32): Show c.-2417_-2397delTTTTTTTTTTTTTTTTTTTTT		KRTCAP3	ENSG00000157992.12	transcript	ENST00000288873.7	protein_coding					2385		chr2	TogoVar
KSR1_chr17_27451448_27631435	27535640	TCCTGGTT others(14): Show TCCTGGTTTTCCTATCAGCTGC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0023 a0001c0005t0002g0023	1	246	0.0041	-21	c.232 others(40): Show c.232-14926_232-14906delCTGGTTTTCCTATCAGCTGCC		KSR1	ENSG00000141068.17	transcript	ENST00000644974.2	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr17	TogoVar
L3MBTL4_chr18_5949717_6419911	5958056	GAGAAGGA others(14): Show GAGAAGGAGAAGAAGAAGAAGA	G G	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0015 a0001c0001t0004g0015	1	94	0.0106	-21	c.167 others(40): Show c.1678-1690_1678-1670delTCTTCTTCTTCTTCTCCTTCT		L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	18/18						chr18	TogoVar
L3MBTL4_chr18_5949717_6419911	5958109	GAAGAAGA others(14): Show GAAGAAGAAGAAGAAGAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0034	1	94	0.0106	-21	c.167 others(40): Show c.1678-1743_1678-1723delTTTCTTCTTCTTCTTCTTCTT		L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	18/18						chr18	TogoVar
LACTBL1_chr1_22948043_22977866	22972139	AGATGATG others(14): Show AGATGATGATGATGATGATGAT	A A	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG03490.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	2	450	0.0044	-21	c.12+ others(34): Show c.12+145_12+165delATCATCATCATCATCATCATC		LACTBL1	ENSG00000215906.9	transcript	ENST00000426928.7	protein_coding	2/7						chr1	TogoVar
LAG3_chr12_6767520_6783455	6778410	GCAGATCT others(14): Show GCAGATCTCAGCAGCCCAGTCC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0001	1	472	0.0021	-21	c.21 others(28): Show c.21_*41delCAGATCTCAGCAGCCCAGTCC		LAG3	ENSG00000089692.9	transcript	ENST00000203629.3	protein_coding	8/8				21		chr12	TogoVar

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