Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
KLHL33_chr14_20420852_20441166	20420854	ATATATAT others(28): Show ATATATATATATATATATATATTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0149 a0005c0005t0149	a0005c0005t0149g0184 a0005c0005t0149g0184	1	480	0.0021	-35	c.79 others(46): Show c.7960_*7994delAAAAAAAAAAAAAAATATATATATATATATATAT A	KLHL33	ENSG00000185271.9	transcript	ENST00000636854.3	protein_coding		4997		chr14	TogoVar
KLHL4_chrX_87512802_87675050	87556352	ATGAGTTC others(28): Show ATGAGTTCATGTCCTTTGTAGGGACATGGATGAAAT	A A	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	259	0.0039	-35	c.422 others(54): Show c.422+38040_422+38074delAGTTCATGTCCTTTGTAGGGACATGG ATGAAATTG	KLHL4	ENSG00000102271.14	transcript	ENST00000373119.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
KLHL6_chr3_183482551_183560706	183543604	CACCTTCC others(28): Show CACCTTCCAGGAGTTATCCACTGGGCCTCCACCTCT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03471.hp2 HG02055.hp1 HG03471.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0013 a0002c0007t0090 a0002c0007t0013 a0002c0007t0090	a0002c0007t0013g0077 a0002c0007t0090g0068 a0002c0007t0013g0077 a0002c0007t0090g0068	2	298	0.0067	-35	c.293 others(54): Show c.293+11722_293+11756delAGAGGTGGAGGCCCAGTGGATAACTC CTGGAAGGT	KLHL6	ENSG00000172578.12	transcript	ENST00000341319.8	protein_coding	1/6			chr3	TogoVar
KLHL9_chr9_21324665_21340404	21337014	CACTCTTC others(28): Show CACTCTTCATTATATTCCCATATGTTTAGTTATTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	432	0.0023	-35	c.-21 others(46): Show c.-2190_-2156delAAAATAACTAAACATATGGGAATATAATGAAGAG T	KLHL9	ENSG00000198642.7	transcript	ENST00000359039.5	protein_coding		1611		chr9	TogoVar
KLK14_chr19_51072897_51087887	51077588	GGGAGGAG others(28): Show GGGAGGAGGGGCTGGGCCTGGACTCCTGGGTCTCAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0032 a0004c0004t0001g0032	1	444	0.0023	-35	c.38 others(44): Show c.384_*418delTTGAGACCCAGGAGTCCAGGCCCAGCCCCTCCTCC	KLK14	ENSG00000129437.11	transcript	ENST00000650543.2	protein_coding		308		chr19	TogoVar
KLK7_chr19_50971468_50988917	50983141	CAGTCCCT others(28): Show CAGTCCCTCCTCCCTCAGACCTAGGAGTCCAGGTCT	C C	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG02257.hp1 HG01516.hp1 HG01517.hp1 HG02257.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0019 a0001c0003t0002g0019	3	384	0.0078	-35	c.-59 others(50): Show c.-59+675_-58-685delAGACCTGGACTCCTAGGTCTGAGGGAGGAG GGACT	KLK7	ENSG00000169035.12	transcript	ENST00000595820.6	protein_coding	1/5			chr19	TogoVar
KLK7_chr19_50971468_50988917	50983172	GGTCTCAG others(28): Show GGTCTCAGTCCCTCCTCCCTCAGGCCCAGGAGTCCA	G G	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA19003.hp2 NA19058.hp1 others(1): Show NA18952.hp1 NA19003.hp2 NA19058.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	4	384	0.0104	-35	c.-59 others(50): Show c.-59+644_-59+678delTGGACTCCTGGGCCTGAGGGAGGAGGGACT GAGAC	KLK7	ENSG00000169035.12	transcript	ENST00000595820.6	protein_coding	1/5			chr19	TogoVar
KLK7_chr19_50971468_50988917	50983224	CCCTCAGA others(28): Show CCCTCAGACCCAGGAGTCCAGGCCCCAGCCCCTCCT	C C	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0107 a0001c0001t0002g0107	1	384	0.0026	-35	c.-59 others(50): Show c.-59+592_-59+626delAGGAGGGGCTGGGGCCTGGACTCCTGGGTC TGAGG	KLK7	ENSG00000169035.12	transcript	ENST00000595820.6	protein_coding	1/5			chr19	TogoVar
KLK7_chr19_50971468_50988917	50983318	CCCCAGCC others(28): Show CCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGG	C C	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0171 a0001c0001t0002g0171	1	384	0.0026	-35	c.-59 others(50): Show c.-59+498_-59+532delCCTGGACTCCTGGGTCTGAGGGAGGAGGGG CTGGG	KLK7	ENSG00000169035.12	transcript	ENST00000595820.6	protein_coding	1/5			chr19	TogoVar
KLRB1_chr12_9589551_9612916	9606699	ATATATAT others(28): Show ATATATATAAAATATATAAAATATATGTATAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA19043.hp1 HG01884.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0338 a0001c0001t0004g0329 a0001c0001t0003g0338 a0001c0001t0004g0329	2	436	0.0046	-35	c.85+ others(50): Show c.85+1021_85+1055delCTTTTTATACATATATTTTATATATTTTAT ATATA	KLRB1	ENSG00000111796.4	transcript	ENST00000229402.4	protein_coding	1/5			chr12	TogoVar
KLRF1_chr12_9822481_9850005	9825274	AAAGCAGA others(28): Show AAAGCAGACACATAGACCATTGGAACACAATGGTCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02717.hp2 HG02723.hp2 HG02622.hp2 HG02717.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0070 a0001c0001t0002g0031 a0001c0001t0002g0070	3	388	0.0077	-35	c.-22 others(46): Show c.-2270_-2236delAAGCAGACACATAGACCATTGGAACACAATGGTC T	KLRF1	ENSG00000150045.12	transcript	ENST00000617889.5	protein_coding		2206		chr12	TogoVar
KMT5B_chr11_68149863_68218296	68198437	AAAGACAA others(28): Show AAAGACAAGACAAGACAAGACAAGACAAGACAAGAC	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01346.hp2 HG01358.hp1 others(72): Show HG00558.hp1 HG01346.hp2 HG01358.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02080.hp2 HG02083.hp2 HG02135.hp1 HG02155.hp2 HG02257.hp1 HG02280.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp2 HG02717.hp2 HG02809.hp2 HG02976.hp1 HG03017.hp2 HG03098.hp2 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp2 HG03516.hp1 HG03579.hp2 HG03654.hp2 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp1 NA18939.hp1 NA18941.hp1 NA18945.hp2 NA18948.hp2 NA18951.hp2 NA18952.hp2 NA18956.hp2 NA18961.hp1 NA18967.hp1 NA18969.hp2 NA18972.hp1 NA18973.hp1 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18984.hp1 NA18987.hp1 NA18989.hp1 NA18990.hp1 NA18993.hp1 NA18998.hp2 NA18999.hp2 NA19002.hp1 NA19011.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp2 NA19058.hp2 NA19065.hp2 NA19070.hp2 NA19081.hp1 NA19084.hp2 NA19085.hp1 NA19089.hp1 NA19090.hp1 NA19091.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0007 others(2): Show a0001c0001 a0001c0003 a0001c0007 a0001c0013 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 a0001c0003t0001 a0001c0003t0005 a0001c0007t0001 a0001c0013t0001 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0011 others(58): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0003g0010 a0001c0001t0003g0030 a0001c0001t0015g0053 a0001c0003t0001g0007 a0001c0003t0001g0026 a0001c0003t0001g0257 a0001c0003t0001g0258 a0001c0003t0001g0261 a0001c0003t0001g0263 a0001c0003t0001g0264 a0001c0003t0001g0265 a0001c0003t0005g0260 a0001c0003t0005g0262 a0001c0007t0001g0259 a0001c0013t0001g0248 a0002c0002t0001g0051	75	328	0.2287	-35	c.-76 others(52): Show c.-76-8320_-76-8286delGTCTTGTCTTGTCTTGTCTTGTCTTGTC TTGTCTT	KMT5B	ENSG00000110066.16	transcript	ENST00000304363.9	protein_coding	1/10			chr11	TogoVar
KNDC1_chr10_133155219_133231412	133155915	TCCACTGT others(28): Show TCCACTGTGGGGTATTGACGTCGTTGGAAAGAGAAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0004 a0002c0006t0004	a0002c0006t0004g0288 a0002c0006t0004g0288	1	332	0.0030	-35	c.-45 others(46): Show c.-4552_-4518delCCACTGTGGGGTATTGACGTCGTTGGAAAGAGAA C	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding		4303		chr10	TogoVar
KNG1_chr3_186712359_186749410	186730666	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02040.hp1 HG02083.hp2 others(2): Show HG00597.hp2 HG02040.hp1 HG02083.hp2 HG04228.hp2 NA19064.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0004 a0002c0006 others(1): Show a0001c0001 a0001c0004 a0002c0006 a0005c0009	a0001c0001t0001 a0001c0004t0003 a0001c0004t0013 others(2): Show a0001c0001t0001 a0001c0004t0003 a0001c0004t0013 a0002c0006t0002 a0005c0009t0001	a0001c0001t0001g0316 a0001c0004t0003g0122 a0001c0004t0013g0097 others(2): Show a0001c0001t0001g0316 a0001c0004t0003g0122 a0001c0004t0013g0097 a0002c0006t0002g0086 a0005c0009t0001g0096	5	430	0.0116	-35	c.673 others(50): Show c.673-877_673-843delAAAAAAAAAAAAAAAAATATATATATATAT ATATA	KNG1	ENSG00000113889.14	transcript	ENST00000644859.2	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
KNG1_chr3_186712359_186749410	186730668	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01928.hp2 HG01934.hp2 others(46): Show HG00738.hp1 HG01928.hp2 HG01934.hp2 HG01993.hp1 HG02015.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02135.hp1 HG02165.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02683.hp2 HG02895.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03471.hp2 HG03710.hp2 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp2 NA18967.hp1 NA18970.hp2 NA18974.hp2 NA18980.hp2 NA18982.hp1 NA18990.hp1 NA18997.hp1 NA18999.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19011.hp2 NA19030.hp2 NA19058.hp1 NA19065.hp1 NA19066.hp1 NA19074.hp1 NA19076.hp2 NA19087.hp1 NA19240.hp2 NA20129.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0017	a0001c0004 a0002c0011 a0003c0007 others(4): Show a0001c0004 a0002c0011 a0003c0007 a0003c0012 a0003c0013 a0004c0003 a0017c0020	a0001c0004t0001 a0001c0004t0003 a0001c0004t0004 others(16): Show a0001c0004t0001 a0001c0004t0003 a0001c0004t0004 a0001c0004t0005 a0001c0004t0013 a0001c0004t0023 a0001c0004t0036 a0002c0011t0001 a0002c0011t0006 a0002c0011t0014 a0003c0007t0007 a0003c0007t0009 a0003c0007t0016 a0003c0007t0040 a0003c0007t0042 a0003c0012t0003 a0003c0013t0007 a0004c0003t0002 a0017c0020t0001	a0001c0004t0001g0004 a0001c0004t0001g0010 a0001c0004t0001g0031 others(40): Show a0001c0004t0001g0004 a0001c0004t0001g0010 a0001c0004t0001g0031 a0001c0004t0001g0095 a0001c0004t0001g0098 a0001c0004t0001g0101 a0001c0004t0001g0124 a0001c0004t0001g0138 a0001c0004t0001g0152 a0001c0004t0001g0154 a0001c0004t0003g0103 a0001c0004t0003g0119 a0001c0004t0003g0120 a0001c0004t0004g0004 a0001c0004t0004g0116 a0001c0004t0004g0147 a0001c0004t0005g0004 a0001c0004t0005g0010 a0001c0004t0013g0159 a0001c0004t0023g0117 a0001c0004t0023g0118 a0001c0004t0036g0153 a0002c0011t0001g0093 a0002c0011t0006g0022 a0002c0011t0006g0066 a0002c0011t0014g0068 a0003c0007t0007g0021 a0003c0007t0007g0062 a0003c0007t0007g0063 a0003c0007t0007g0071 a0003c0007t0009g0064 a0003c0007t0016g0065 a0003c0007t0016g0069 a0003c0007t0016g0092 a0003c0007t0040g0070 a0003c0007t0042g0067 a0003c0012t0003g0077 a0003c0012t0003g0085 a0003c0013t0007g0210 a0004c0003t0002g0099 a0004c0003t0002g0107 a0004c0003t0002g0150 a0017c0020t0001g0141	49	430	0.1140	-35	c.673 others(50): Show c.673-875_673-841delAAAAAAAAAAAAAAATATATATATATATAT ATATA	KNG1	ENSG00000113889.14	transcript	ENST00000644859.2	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
KNTC1_chr12_122522249_122631396	122579025	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01081.hp1 HG02895.hp1 others(3): Show HG00099.hp1 HG01081.hp1 HG02895.hp1 HG02896.hp2 HG03225.hp2 NA19043.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0013 a0001c0001 a0007c0013	a0001c0001t0001 a0007c0013t0001 a0001c0001t0001 a0007c0013t0001	a0001c0001t0001g0129 a0001c0001t0001g0178 a0001c0001t0001g0205 others(3): Show a0001c0001t0001g0129 a0001c0001t0001g0178 a0001c0001t0001g0205 a0007c0013t0001g0030 a0007c0013t0001g0203 a0007c0013t0001g0204	6	320	0.0188	-35	c.284 others(52): Show c.2842-857_2842-823delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	KNTC1	ENSG00000184445.12	transcript	ENST00000333479.12	protein_coding	31/63		INFO_REALIGN_3_PRIME	chr12	TogoVar
KRBOX4_chrX_46442297_46479639	46477659	AAATAAGA others(28): Show AAATAAGAGAATGGGCTTGCCACAGTCATGAGAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	318	0.0031	-35	c.46 others(46): Show c.4648_*4682delAATAAGAGAATGGGCTTGCCACAGTCATGAGAAA G	KRBOX4	ENSG00000147121.16	transcript	ENST00000344302.9	protein_coding		3021		chrX	TogoVar
KRT17_chr17_41614442_41629575	41629392	GTCATTTC others(28): Show GTCATTTCTCAAACATACAGGGCTGTGAATATTAGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	404	0.0025	-35	c.-49 others(46): Show c.-4918_-4884delGCTAATATTCACAGCCCTGTATGTTTGAGAAATG A	KRT17	ENSG00000128422.18	transcript	ENST00000311208.13	protein_coding		4818		chr17	TogoVar
KRTAP1-1_chr17_41035541_41046450	41035720	CTTCTTTC others(28): Show CTTCTTTCTCTTTCTTTCTTTCTTTCCTTTCTTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00738.hp1 HG01975.hp2 others(15): Show HG00558.hp2 HG00738.hp1 HG01975.hp2 HG03017.hp2 HG03491.hp2 HG04184.hp2 NA18950.hp1 NA18963.hp1 NA18973.hp1 NA18982.hp2 NA18992.hp1 NA19000.hp2 NA19005.hp1 NA19011.hp1 NA19054.hp1 NA19062.hp2 NA19082.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0000 a0002c0002t0001g0000 a0001c0001t0001g0000 a0002c0002t0001g0000	18	403	0.0447	-35	c.51 others(46): Show c.5109_*5143delAGAAAGAAAGGAAAGAAAGAAAGAAAGAGAAAGA A	KRTAP1-1	ENSG00000188581.9	transcript	ENST00000306271.5	protein_coding		4820		chr17	TogoVar
KRTAP1-3_chr17_41028884_41039874	41035720	CTTCTTTC others(28): Show CTTCTTTCTCTTTCTTTCTTTCTTTCCTTTCTTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00738.hp2 HG01975.hp1 others(20): Show HG00558.hp2 HG00738.hp2 HG01975.hp1 HG03017.hp2 HG03491.hp2 HG04184.hp2 NA18950.hp2 NA18963.hp2 NA18965.hp2 NA18973.hp2 NA18974.hp1 NA18982.hp1 NA18992.hp1 NA18995.hp1 NA19000.hp2 NA19002.hp2 NA19005.hp1 NA19011.hp2 NA19054.hp1 NA19062.hp2 NA19065.hp1 NA19082.hp2 NA20805.hp1	a0002 a0003 a0005 others(1): Show a0002 a0003 a0005 a0009	a0002c0002 a0003c0003 a0005c0005 others(1): Show a0002c0002 a0003c0003 a0005c0005 a0009c0011	a0002c0002t0001 a0003c0003t0001 a0005c0005t0001 others(1): Show a0002c0002t0001 a0003c0003t0001 a0005c0005t0001 a0009c0011t0001	a0002c0002t0001g0000 a0003c0003t0001g0000 a0005c0005t0001g0000 others(1): Show a0002c0002t0001g0000 a0003c0003t0001g0000 a0005c0005t0001g0000 a0009c0011t0001g0000	23	435	0.0529	-35	c.-93 others(44): Show c.-934_-900delAGAAAGAAAGGAAAGAAAGAAAGAAAGAGAAAGAA	KRTAP1-3	ENSG00000221880.4	transcript	ENST00000344363.7	protein_coding		847		chr17	TogoVar
KRTAP16-1_chr17_41302700_41314309	41310314	AAAGAAAA others(28): Show AAAGAAAAGAAAGAAAGAAGAAAGAAAAGAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0000 a0002c0005t0001g0000	1	421	0.0024	-35	c.-10 others(46): Show c.-1096_-1062delCTTTCTTCTTTTCTTTCTTCTTTCTTTCTTTTCT T	KRTAP16-1	ENSG00000212657.2	transcript	ENST00000391352.2	protein_coding		1006		chr17	TogoVar
KRTAP17-1_chr17_41309912_41320710	41310314	AAAGAAAA others(28): Show AAAGAAAAGAAAGAAAGAAGAAAGAAAAGAAGAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0000 a0003c0004t0001g0000	1	413	0.0024	-35	c.49 others(46): Show c.4984_*5018delCTTTCTTCTTTTCTTTCTTCTTTCTTTCTTTTCT T	KRTAP17-1	ENSG00000186860.5	transcript	ENST00000334202.5	protein_coding		4597		chr17	TogoVar
KSR2_chr12_117448012_117973990	117878124	TAAGAATT others(28): Show TAAGAATTCAGGCAAACTTAACTTGCACCACCGTGC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp1 HG00438.hp2 others(90): Show HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00609.hp2 HG01071.hp1 HG01109.hp2 HG01169.hp2 HG01192.hp2 HG01243.hp2 HG01258.hp2 HG01496.hp2 HG01975.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp2 HG03540.hp1 HG03669.hp2 HG03834.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18959.hp2 NA18962.hp2 NA18964.hp2 NA18968.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18983.hp2 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19081.hp1 NA19081.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(13): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0015 a0003c0018 a0005c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(86): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0011 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0025 a0001c0001t0030 a0001c0001t0035 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0046 a0001c0001t0047 a0001c0001t0064 a0001c0001t0070 a0001c0001t0081 a0001c0001t0092 a0001c0001t0093 a0001c0001t0097 a0001c0001t0100 a0001c0001t0101 a0001c0001t0102 a0001c0001t0107 a0001c0001t0111 a0001c0001t0119 a0001c0001t0120 a0001c0001t0125 a0001c0001t0126 a0001c0001t0127 a0001c0001t0129 a0001c0001t0133 a0001c0001t0137 a0001c0002t0003 a0001c0002t0009 a0001c0002t0011 a0001c0002t0012 a0001c0002t0017 a0001c0002t0031 a0001c0002t0036 a0001c0002t0038 a0001c0002t0039 a0001c0002t0040 a0001c0002t0062 a0001c0002t0063 a0001c0002t0074 a0001c0002t0113 a0001c0002t0122 a0001c0002t0124 a0001c0003t0004 a0001c0003t0005 a0001c0003t0021 a0001c0003t0024 a0001c0003t0025 a0001c0003t0060 a0001c0003t0089 a0001c0003t0091 a0001c0003t0094 a0001c0003t0108 a0001c0003t0109 a0001c0003t0118 a0001c0003t0138 a0001c0003t0139 a0001c0003t0140 a0001c0004t0003 a0001c0004t0005 a0001c0004t0006 a0001c0004t0082 a0001c0004t0117 a0001c0005t0006 a0001c0006t0016 a0001c0006t0029 a0001c0006t0105 a0001c0007t0055 a0001c0008t0088 a0001c0008t0130 a0001c0009t0136 a0001c0011t0098 a0001c0012t0073 a0001c0013t0059 a0001c0014t0072 a0001c0015t0018 a0003c0018t0049 a0005c0017t0001	a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0002g0101 others(90): Show a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0002g0101 a0001c0001t0003g0016 a0001c0001t0004g0102 a0001c0001t0008g0103 a0001c0001t0011g0022 a0001c0001t0017g0155 a0001c0001t0018g0147 a0001c0001t0019g0117 a0001c0001t0019g0144 a0001c0001t0020g0149 a0001c0001t0020g0171 a0001c0001t0021g0164 a0001c0001t0025g0192 a0001c0001t0030g0025 a0001c0001t0035g0015 a0001c0001t0042g0020 a0001c0001t0043g0011 a0001c0001t0044g0019 a0001c0001t0046g0028 a0001c0001t0047g0007 a0001c0001t0064g0058 a0001c0001t0070g0051 a0001c0001t0081g0062 a0001c0001t0092g0137 a0001c0001t0093g0170 a0001c0001t0097g0132 a0001c0001t0100g0104 a0001c0001t0101g0087 a0001c0001t0102g0116 a0001c0001t0107g0111 a0001c0001t0111g0148 a0001c0001t0119g0150 a0001c0001t0120g0118 a0001c0001t0125g0174 a0001c0001t0126g0128 a0001c0001t0127g0120 a0001c0001t0129g0100 a0001c0001t0133g0154 a0001c0001t0137g0082 a0001c0002t0003g0010 a0001c0002t0009g0183 a0001c0002t0011g0018 a0001c0002t0012g0035 a0001c0002t0017g0140 a0001c0002t0031g0005 a0001c0002t0036g0013 a0001c0002t0038g0021 a0001c0002t0039g0023 a0001c0002t0040g0024 a0001c0002t0062g0056 a0001c0002t0063g0048 a0001c0002t0074g0063 a0001c0002t0113g0156 a0001c0002t0122g0162 a0001c0002t0124g0123 a0001c0003t0004g0146 a0001c0003t0005g0139 a0001c0003t0021g0115 a0001c0003t0024g0080 a0001c0003t0025g0187 a0001c0003t0060g0045 a0001c0003t0089g0177 a0001c0003t0091g0138 a0001c0003t0094g0169 a0001c0003t0108g0083 a0001c0003t0109g0133 a0001c0003t0118g0172 a0001c0003t0138g0134 a0001c0003t0139g0136 a0001c0003t0140g0180 a0001c0004t0003g0029 a0001c0004t0005g0173 a0001c0004t0006g0090 a0001c0004t0082g0078 a0001c0004t0117g0092 a0001c0005t0006g0119 a0001c0006t0016g0081 a0001c0006t0016g0179 a0001c0006t0029g0030 a0001c0006t0105g0098 a0001c0007t0055g0040 a0001c0008t0088g0175 a0001c0008t0130g0143 a0001c0009t0136g0097 a0001c0011t0098g0167 a0001c0012t0073g0071 a0001c0013t0059g0043 a0001c0014t0072g0064 a0001c0015t0018g0142 a0003c0018t0049g0037 a0005c0017t0001g0124	93	196	0.4745	-35	c.181 others(54): Show c.181-17728_181-17694delGCACGGTGGTGCAAGTTAAGTTTGCC TGAATTCTT	KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	1/19			chr12	TogoVar
L3MBTL4_chr18_5949717_6419911	5972860	TATAGAAT others(28): Show TATAGAATAGAATAGAATAGAATAGAACAGAAGAGA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01952.hp1 HG02080.hp1 others(16): Show HG01243.hp1 HG01952.hp1 HG02080.hp1 HG02257.hp2 HG02258.hp2 HG02559.hp2 HG02622.hp2 HG02809.hp2 HG02922.hp1 HG02976.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03579.hp2 NA18906.hp1 NA19030.hp2 NA19043.hp1 NA19240.hp1 NA19240.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0002c0006 others(2): Show a0001c0001 a0002c0002 a0002c0006 a0003c0005 a0005c0010	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0002c0002t0001 a0002c0006t0001 a0003c0005t0004 a0005c0010t0002	a0001c0001t0002g0003 a0001c0001t0002g0037 a0001c0001t0002g0092 others(16): Show a0001c0001t0002g0003 a0001c0001t0002g0037 a0001c0001t0002g0092 a0001c0001t0004g0049 a0001c0001t0004g0059 a0001c0001t0005g0040 a0001c0001t0005g0046 a0001c0001t0007g0043 a0002c0002t0001g0001 a0002c0002t0001g0008 a0002c0002t0001g0054 a0002c0002t0001g0073 a0002c0002t0001g0083 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0006t0001g0051 a0003c0005t0004g0085 a0003c0005t0004g0086 a0005c0010t0002g0089	19	94	0.2021	-35	c.144 others(54): Show c.1445-3333_1445-3299delTCTCTTCTGTTCTATTCTATTCTATT CTATTCTAT	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	16/18			chr18	TogoVar
L3MBTL4_chr18_5949717_6419911	6003021	AAGTATCT others(28): Show AAGTATCTCTATTTATAGAGATACTATATAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG00639.hp1 others(24): Show HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG01099.hp2 HG01192.hp1 HG01978.hp2 HG02080.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02809.hp1 HG02970.hp2 HG03017.hp2 HG03209.hp1 HG03209.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG03834.hp1 HG04115.hp2 HG04184.hp1 HG06807.hp2 NA19002.hp1 NA19009.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0002c0002t0001	a0001c0001t0002g0020 a0001c0001t0002g0028 a0001c0001t0002g0045 others(24): Show a0001c0001t0002g0020 a0001c0001t0002g0028 a0001c0001t0002g0045 a0001c0001t0002g0067 a0001c0001t0003g0004 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0024 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0041 a0001c0001t0003g0048 a0001c0001t0004g0055 a0001c0001t0004g0059 a0001c0001t0005g0046 a0001c0001t0005g0075 a0001c0001t0007g0043 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0021 a0002c0002t0001g0050 a0002c0002t0001g0061 a0002c0002t0001g0064 a0002c0002t0001g0066 a0002c0002t0001g0071 a0002c0002t0001g0082 a0002c0002t0001g0083	27	94	0.2872	-35	c.144 others(56): Show c.1445-33494_1445-33460delATATTTTATATAGTATCTCTATAA ATAGAGATACT	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	16/18			chr18	TogoVar
LAMB4_chr7_108018553_108135361	108043545	GTTTTTTT others(28): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18985.hp1 NA19087.hp2 NA18950.hp1 NA18985.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0256 a0001c0001t0001g0260 a0001c0001t0001g0030 a0001c0001t0001g0256 a0001c0001t0001g0260	3	292	0.0103	-35	c.447 others(52): Show c.4471+172_4471+206delAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	LAMB4	ENSG00000091128.13	transcript	ENST00000388781.8	protein_coding	29/33			chr7	TogoVar
LAS1L_chrX_65507582_65539787	65538494	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03540.hp1 HG03130.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0052 a0001c0001t0001g0038 a0001c0001t0001g0052	2	203	0.0099	-35	c.-38 others(46): Show c.-3814_-3780delAAATATATATATATATATATATATATATATATAT A	LAS1L	ENSG00000001497.18	transcript	ENST00000374811.8	protein_coding		3708		chrX	TogoVar
LATS2_chr13_20968036_21066586	20977631	AATTAAAA others(28): Show AATTAAAATAATTAAGATGGTAAATTTTAATTTACC	A A	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	316	0.0032	-35	c.277 others(54): Show c.2772+2025_2772+2059delGGTAAATTAAAATTTACCATCTTAAT TATTTTAAT	LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding	7/7			chr13	TogoVar
LCA5_chr6_79479991_79542430	79522061	AAGATTCT others(28): Show AAGATTCTAGGAAACCATCTCATTTAATTAAAAAAT	A A	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0138 a0002c0002t0001g0138	1	400	0.0025	-35	c.-19 others(54): Show c.-191-3011_-191-2977delATTTTTTAATTAAATGAGATGGTTTC CTAGAATCT	LCA5	ENSG00000135338.14	transcript	ENST00000369846.9	protein_coding	1/7			chr6	TogoVar
LCN15_chr9_136754634_136769518	136769234	CCCATGCA others(28): Show CCCATGCACTGCCCCCCCCGCCACCCCGCCACCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	356	0.0028	-35	c.-47 others(46): Show c.-4781_-4747delAGGGGTGGCGGGGTGGCGGGGGGGGCAGTGCATG G	LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding		4717		chr9	TogoVar
LCN15_chr9_136754634_136769518	136769483	ACACCCCC others(28): Show ACACCCCCCATGCACTGCCCCCCCGCCACCCCGCCA	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG03139.hp2 HG03225.hp1 others(1): Show HG02451.hp2 HG03139.hp2 HG03225.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0001c0001t0001 a0001c0001t0003 a0001c0003t0001	a0001c0001t0001g0024 a0001c0001t0003g0022 a0001c0003t0001g0007 a0001c0001t0001g0024 a0001c0001t0003g0022 a0001c0003t0001g0007	4	356	0.0112	-35	c.-50 others(46): Show c.-5030_-4996delTGGCGGGGTGGCGGGGGGGCAGTGCATGGGGGGT G	LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding		4966		chr9	TogoVar
LCN1_chr9_135516440_135531540	135529097	AAAAATAA others(28): Show AAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0096 a0002c0002t0001g0096	1	436	0.0023	-35	c.27 others(46): Show c.2756_*2790delAAAATAAAATAAAATAAAATAAAATAAAATAAAA T	LCN1	ENSG00000160349.10	transcript	ENST00000371781.4	protein_coding		2558		chr9	TogoVar
LGR5_chr12_71434798_71591310	71564646	TATATATA others(28): Show TATATATACATATATGTACACACACTGTATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(162): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00609.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02559.hp1 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02723.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG04115.hp1 HG04115.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18981.hp1 NA18981.hp2 NA18984.hp1 NA18984.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19010.hp2 NA19011.hp2 NA19056.hp1 NA19056.hp2 NA19062.hp1 NA19076.hp1 NA19076.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19090.hp1 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0005 a0006 a0007 a0010 a0012	a0001c0001 a0001c0006 a0001c0009 others(7): Show a0001c0001 a0001c0006 a0001c0009 a0002c0003 a0004c0004 a0005c0007 a0006c0013 a0007c0010 a0010c0012 a0012c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0006t0003 a0001c0009t0009 a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 a0002c0003t0013 a0004c0004t0001 a0004c0004t0002 a0005c0007t0006 a0006c0013t0004 a0007c0010t0003 a0010c0012t0001 a0012c0008t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(162): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0059 a0001c0001t0001g0081 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0109 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0150 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0185 a0001c0001t0002g0023 a0001c0001t0002g0029 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0067 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0084 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0135 a0001c0001t0002g0142 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0166 a0001c0001t0002g0174 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0061 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0068 a0001c0001t0003g0077 a0001c0001t0003g0089 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0102 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0108 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0117 a0001c0001t0003g0119 a0001c0001t0003g0122 a0001c0001t0003g0133 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0149 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0160 a0001c0001t0004g0007 a0001c0001t0004g0014 a0001c0001t0004g0034 a0001c0001t0004g0039 a0001c0001t0004g0050 a0001c0001t0004g0052 a0001c0001t0004g0053 a0001c0001t0004g0069 a0001c0001t0004g0164 a0001c0001t0004g0168 a0001c0001t0004g0173 a0001c0001t0006g0187 a0001c0001t0006g0193 a0001c0001t0007g0191 a0001c0001t0008g0011 a0001c0001t0008g0012 a0001c0001t0009g0005 a0001c0001t0014g0054 a0001c0001t0016g0071 a0001c0001t0017g0018 a0001c0001t0020g0097 a0001c0006t0003g0115 a0001c0009t0009g0009 a0002c0003t0001g0020 a0002c0003t0001g0125 a0002c0003t0002g0082 a0002c0003t0002g0085 a0002c0003t0002g0093 a0002c0003t0005g0032 a0002c0003t0005g0033 a0002c0003t0005g0100 a0002c0003t0005g0165 a0002c0003t0005g0175 a0002c0003t0005g0194 a0002c0003t0013g0010 a0004c0004t0001g0044 a0004c0004t0002g0113 a0005c0007t0006g0190 a0006c0013t0004g0157 a0007c0010t0003g0121 a0010c0012t0001g0040 a0012c0008t0002g0080	165	200	0.8250	-35	c.858 others(52): Show c.858-1688_858-1654delCATATATACATATATGTACACACACTGT ATATATA	LGR5	ENSG00000139292.13	transcript	ENST00000266674.10	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
LIMS1_chr2_108529470_108692246	108552316	AAACTATA others(28): Show AAACTATATATATACTATACGTGTAGTATATATATG	A A	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0236 a0001c0002t0004g0236	1	246	0.0041	-35	c.32+ others(52): Show c.32+17725_32+17759delCTATATATATACTATACGTGTAGTATAT ATATGAA	LIMS1	ENSG00000169756.17	transcript	ENST00000544547.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
LIN28B_chr6_104952107_105088332	105023562	TATATAAT others(28): Show TATATAATATATATAATATATATTATATATATTATA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02970.hp1 HG01891.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0042 a0001c0001t0001g0018 a0001c0001t0001g0042	2	278	0.0072	-35	c.199 others(52): Show c.199-2735_199-2701delATATAATATATATAATATATATTATATA TATTATA	LIN28B	ENSG00000187772.8	transcript	ENST00000345080.5	protein_coding	2/3			chr6	TogoVar
LINGO2_chr9_27932617_29218601	28769492	ATATATAT others(28): Show ATATATATATATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0037 a0001c0001t0023g0037	1	62	0.0161	-35	c.-39 others(56): Show c.-394-99247_-394-99213delAAAAAAAAATATATATATATATAT ATATATATATA	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	2/6			chr9	TogoVar
LINGO2_chr9_27932617_29218601	28769496	ATATATAT others(28): Show ATATATATATATATATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp2 HG02056.hp1 others(1): Show HG00438.hp2 HG00597.hp2 HG02056.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0041 others(1): Show a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0041 a0001c0001t0004g0033	4	62	0.0645	-35	c.-39 others(56): Show c.-394-99251_-394-99217delAAAAAAAAAAAAATATATATATAT ATATATATATA	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	2/6			chr9	TogoVar
LINGO2_chr9_27932617_29218601	28769498	ATATATAT others(28): Show ATATATATATATATATATATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0032 a0001c0001t0003g0032	1	62	0.0161	-35	c.-39 others(56): Show c.-394-99253_-394-99219delAAAAAAAAAAAAAAATATATATAT ATATATATATA	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	2/6			chr9	TogoVar
LIPI_chr21_14103813_14215955	14106189	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0090 a0003c0006t0002g0090	1	362	0.0028	-35	c.27 others(46): Show c.2769_*2803delATATATATATATATATATATTTTTTTTTTTTTTT T	LIPI	ENSG00000188992.12	transcript	ENST00000681601.1	protein_coding		2623		chr21	TogoVar
LIPI_chr21_14103813_14215955	14106191	AAAAAAAA others(28): Show AAAAAAAAAAAAAAATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG03017.hp2 NA18940.hp2 others(9): Show HG01978.hp1 HG03017.hp2 NA18940.hp2 NA18950.hp1 NA18955.hp1 NA18965.hp1 NA18975.hp1 NA18975.hp2 NA18983.hp1 NA19063.hp1 NA19076.hp1 NA20905.hp2	a0003 a0003	a0003c0005 a0003c0006 a0003c0005 a0003c0006	a0003c0005t0002 a0003c0006t0002 a0003c0005t0002 a0003c0006t0002	a0003c0005t0002g0014 a0003c0005t0002g0270 a0003c0005t0002g0272 others(9): Show a0003c0005t0002g0014 a0003c0005t0002g0270 a0003c0005t0002g0272 a0003c0005t0002g0273 a0003c0005t0002g0289 a0003c0005t0002g0311 a0003c0005t0002g0312 a0003c0005t0002g0313 a0003c0006t0002g0001 a0003c0006t0002g0007 a0003c0006t0002g0146 a0003c0006t0002g0147	12	362	0.0332	-35	c.27 others(46): Show c.2767_*2801delATATATATATATATATATATATTTTTTTTTTTTT T	LIPI	ENSG00000188992.12	transcript	ENST00000681601.1	protein_coding		2621		chr21	TogoVar
LIPI_chr21_14103813_14215955	14106193	AAAAAAAA others(28): Show AAAAAAAAAAAAATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG01255.hp2 HG02040.hp1 others(17): Show HG00735.hp2 HG01255.hp2 HG02040.hp1 HG02109.hp1 HG02148.hp2 HG02293.hp1 HG03209.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18984.hp1 NA18987.hp2 NA18990.hp2 NA19079.hp2 NA19088.hp2 NA20300.hp1	a0002 a0003 a0012 a0002 a0003 a0012	a0002c0002 a0003c0005 a0003c0006 others(1): Show a0002c0002 a0003c0005 a0003c0006 a0012c0022	a0002c0002t0002 a0003c0005t0002 a0003c0005t0007 others(2): Show a0002c0002t0002 a0003c0005t0002 a0003c0005t0007 a0003c0006t0002 a0012c0022t0002	a0002c0002t0002g0165 a0002c0002t0002g0233 a0003c0005t0002g0013 others(16): Show a0002c0002t0002g0165 a0002c0002t0002g0233 a0003c0005t0002g0013 a0003c0005t0002g0015 a0003c0005t0002g0280 a0003c0005t0002g0283 a0003c0005t0002g0284 a0003c0005t0007g0322 a0003c0006t0002g0001 a0003c0006t0002g0007 a0003c0006t0002g0134 a0003c0006t0002g0181 a0003c0006t0002g0182 a0003c0006t0002g0184 a0003c0006t0002g0185 a0003c0006t0002g0189 a0003c0006t0002g0217 a0003c0006t0002g0230 a0012c0022t0002g0022	20	362	0.0553	-35	c.27 others(46): Show c.2765_*2799delATATATATATATATATATATATATTTTTTTTTTT T	LIPI	ENSG00000188992.12	transcript	ENST00000681601.1	protein_coding		2619		chr21	TogoVar
LIPI_chr21_14103813_14215955	14106195	AAAAAAAA others(28): Show AAAAAAAAAAATATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp1 NA18747.hp2 NA19005.hp2 others(3): Show NA18612.hp1 NA18747.hp2 NA19005.hp2 NA19009.hp2 NA19085.hp2 NA19087.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0269 a0003c0005t0002g0275 a0003c0005t0002g0282 others(3): Show a0003c0005t0002g0269 a0003c0005t0002g0275 a0003c0005t0002g0282 a0003c0005t0002g0304 a0003c0005t0002g0305 a0003c0005t0002g0306	6	362	0.0166	-35	c.27 others(46): Show c.2763_*2797delATATATATATATATATATATATATATTTTTTTTT T	LIPI	ENSG00000188992.12	transcript	ENST00000681601.1	protein_coding		2617		chr21	TogoVar
LIPI_chr21_14103813_14215955	14106197	AAAAAAAA others(28): Show AAAAAAAAATATATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 NA18952.hp2 HG02976.hp1 NA18952.hp2	a0005 a0015 a0005 a0015	a0005c0004 a0015c0020 a0005c0004 a0015c0020	a0005c0004t0002 a0015c0020t0002 a0005c0004t0002 a0015c0020t0002	a0005c0004t0002g0033 a0015c0020t0002g0299 a0005c0004t0002g0033 a0015c0020t0002g0299	2	362	0.0055	-35	c.27 others(46): Show c.2761_*2795delATATATATATATATATATATATATATATTTTTTT T	LIPI	ENSG00000188992.12	transcript	ENST00000681601.1	protein_coding		2615		chr21	TogoVar
LIPT1_chr2_99149967_99168137	99161270	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	406	0.0025	-35	c.-1- others(48): Show c.-1-685_-1-651delAAAAAAAAAAAAAAAAAAAAATATATATATAT ATA	LIPT1	ENSG00000144182.17	transcript	ENST00000651691.1	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
LIPT1_chr2_99149967_99168137	99161272	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18998.hp1 NA19083.hp2 others(1): Show NA18964.hp2 NA18998.hp1 NA19083.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0052 a0001c0001t0001g0042 a0001c0001t0001g0052	4	406	0.0099	-35	c.-1- others(48): Show c.-1-683_-1-649delAAAAAAAAAAAAAAAAAAATATATATATATAT ATA	LIPT1	ENSG00000144182.17	transcript	ENST00000651691.1	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
LIPT1_chr2_99149967_99168137	99161274	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	406	0.0025	-35	c.-1- others(48): Show c.-1-681_-1-647delAAAAAAAAAAAAAAAAATATATATATATATAT ATA	LIPT1	ENSG00000144182.17	transcript	ENST00000651691.1	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
LITAF_chr16_11542722_11591919	11579459	AAAAATAA others(28): Show AAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02155.hp2 HG03831.hp1 others(1): Show HG00738.hp2 HG02155.hp2 HG03831.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0001	a0001c0001t0002g0027 a0001c0001t0002g0382 a0001c0001t0003g0383 others(1): Show a0001c0001t0002g0027 a0001c0001t0002g0382 a0001c0001t0003g0383 a0001c0003t0001g0252	4	412	0.0097	-35	c.-6+ others(50): Show c.-6+7392_-6+7426delATTTTATTTTATTTTATTTTATTTTATTTT ATTTT	LITAF	ENSG00000189067.14	transcript	ENST00000622633.5	protein_coding	1/3			chr16	TogoVar
LMCD1_chr3_8496823_8579668	8543378	TGATAGAT others(28): Show TGATAGATAGATAGATAGATGATAGATAGATAGATA	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03927.hp2 NA19240.hp1 HG02818.hp1 HG03927.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0005 a0001c0002t0001 a0001c0002t0005	a0001c0002t0001g0069 a0001c0002t0001g0227 a0001c0002t0005g0226 a0001c0002t0001g0069 a0001c0002t0001g0227 a0001c0002t0005g0226	3	314	0.0096	-35	c.388 others(52): Show c.388-5170_388-5136delGATAGATAGATAGATAGATAGATAGATA GATAGAT	LMCD1	ENSG00000071282.12	transcript	ENST00000157600.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
LMF1_chr16_848634_975984	871497	TGTGCCTT others(28): Show TGTGCCTTCATGGAGGGGACAGCAGATGCCTCAGAG	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03453.hp1 HG03098.hp1 HG03453.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0001 a0001c0026t0001	a0001c0026t0001g0234 a0001c0026t0001g0235 a0001c0026t0001g0234 a0001c0026t0001g0235	2	294	0.0068	-35	c.898 others(50): Show c.898-191_898-157delCTCTGAGGCATCTGCTGTCCCCTCCATGAA GGCAC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	6/10			chr16	TogoVar
LMLN_chr3_197955217_198048720	198036521	AGATGTGG others(28): Show AGATGTGGGCTGGCAAAGACCGGGGGGTTCATTGAG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0105 a0001c0001t0059g0105	1	258	0.0039	-35	c.195 others(52): Show c.1954+481_1954+515delTGTGGGCTGGCAAAGACCGGGGGGTTCA TTGAGGA	LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr3	TogoVar

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