Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
LMO2_chr11_33853576_33897076	33880243	T T	TATACACA others(17): Show TATACACATGATATATATATCATAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0178 a0001c0004t0003g0178	1	442	0.0023	24	c.-27 others(43): Show c.-272+1557_-272+1580dupGTATGATATATATATCATGTGTAT		LMO2	ENSG00000135363.12	transcript	ENST00000257818.3	protein_coding	2/5						chr11	TogoVar
LMO3_chr12_16543372_16611162	16565983	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0325 a0001c0001t0001g0325	1	354	0.0028	24	c.207 others(41): Show c.207-5469_207-5446dupATATATATATATATATATATATAT		LMO3	ENSG00000048540.16	transcript	ENST00000537304.6	protein_coding	2/3						chr12	TogoVar
LMO7_chr13_75631330_75864866	75632862	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG06807.hp1 HG02698.hp1 HG06807.hp1	a0010 a0019 a0010 a0019	a0010c0012 a0019c0034 a0010c0012 a0019c0034	a0010c0012t0001 a0019c0034t0002 a0010c0012t0001 a0019c0034t0002	a0010c0012t0001g0131 a0019c0034t0002g0073 a0010c0012t0001g0131 a0019c0034t0002g0073	2	272	0.0074	24	c.-37 others(35): Show c.-3796_-3795insTTTTTTTTTTTTTTTTTTTTTTTT		LMO7	ENSG00000136153.20	transcript	ENST00000377534.8	protein_coding					3467		chr13	TogoVar
LMO7_chr13_75631330_75864866	75771545	T T	TCTTTAAA others(17): Show TCTTTAAAAATAGAATTTTTAAAGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp2 HG00621.hp2 others(53): Show HG00280.hp1 HG00438.hp2 HG00621.hp2 HG01070.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01175.hp1 HG01255.hp2 HG01346.hp2 HG01433.hp2 HG01884.hp1 HG01928.hp1 HG01952.hp1 HG01993.hp1 HG02040.hp2 HG02056.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02165.hp2 HG02293.hp2 HG03831.hp2 HG03834.hp1 HG03942.hp1 NA18747.hp1 NA18940.hp2 NA18942.hp2 NA18944.hp2 NA18946.hp1 NA18951.hp2 NA18953.hp1 NA18960.hp2 NA18969.hp1 NA18970.hp1 NA18979.hp1 NA18980.hp2 NA18987.hp1 NA18990.hp1 NA18993.hp1 NA18998.hp2 NA19001.hp2 NA19003.hp2 NA19007.hp1 NA19011.hp2 NA19012.hp2 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19063.hp1 NA19065.hp1 NA19070.hp2 NA19076.hp1 NA19077.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0003c0002 a0004c0027 others(1): Show a0001c0001 a0003c0002 a0004c0027 a0005c0005	a0001c0001t0001 a0003c0002t0001 a0003c0002t0002 others(5): Show a0001c0001t0001 a0003c0002t0001 a0003c0002t0002 a0003c0002t0016 a0004c0027t0002 a0005c0005t0001 a0005c0005t0003 a0005c0005t0004	a0001c0001t0001g0218 a0003c0002t0001g0006 a0003c0002t0001g0123 others(53): Show a0001c0001t0001g0218 a0003c0002t0001g0006 a0003c0002t0001g0123 a0003c0002t0001g0141 a0003c0002t0001g0142 a0003c0002t0001g0157 a0003c0002t0001g0158 a0003c0002t0001g0179 a0003c0002t0001g0186 a0003c0002t0001g0191 a0003c0002t0001g0193 a0003c0002t0001g0194 a0003c0002t0001g0195 a0003c0002t0001g0196 a0003c0002t0001g0198 a0003c0002t0001g0200 a0003c0002t0001g0204 a0003c0002t0001g0205 a0003c0002t0001g0206 a0003c0002t0001g0209 a0003c0002t0001g0212 a0003c0002t0001g0213 a0003c0002t0001g0214 a0003c0002t0001g0215 a0003c0002t0001g0216 a0003c0002t0001g0217 a0003c0002t0001g0219 a0003c0002t0001g0222 a0003c0002t0001g0224 a0003c0002t0001g0225 a0003c0002t0001g0226 a0003c0002t0001g0227 a0003c0002t0001g0228 a0003c0002t0001g0229 a0003c0002t0001g0230 a0003c0002t0001g0233 a0003c0002t0001g0237 a0003c0002t0001g0243 a0003c0002t0002g0046 a0003c0002t0002g0064 a0003c0002t0002g0262 a0003c0002t0002g0266 a0003c0002t0002g0270 a0003c0002t0016g0223 a0004c0027t0002g0092 a0005c0005t0001g0125 a0005c0005t0003g0112 a0005c0005t0003g0124 a0005c0005t0003g0127 a0005c0005t0003g0128 a0005c0005t0003g0144 a0005c0005t0003g0145 a0005c0005t0003g0147 a0005c0005t0003g0164 a0005c0005t0004g0263 a0005c0005t0004g0264	56	272	0.2059	24	c.317 others(43): Show c.317+10516_317+10517insTAGAATTTTTAAAGACTTTAAAAA		LMO7	ENSG00000136153.20	transcript	ENST00000377534.8	protein_coding	4/30					INFO_REALIGN_3_PRIME	chr13	TogoVar
LMO7_chr13_75631330_75864866	75776162	G G	GATATATA others(17): Show GATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18998.hp2 NA19076.hp1 HG00621.hp2 NA18998.hp2 NA19076.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0002 a0003c0002t0001 a0003c0002t0002	a0003c0002t0001g0123 a0003c0002t0001g0206 a0003c0002t0002g0270 a0003c0002t0001g0123 a0003c0002t0001g0206 a0003c0002t0002g0270	3	272	0.0110	24	c.317 others(43): Show c.317+15144_317+15167dupTATATATATATATATATATATATA		LMO7	ENSG00000136153.20	transcript	ENST00000377534.8	protein_coding	4/30					INFO_REALIGN_3_PRIME	chr13	TogoVar
LMOD1_chr1_201891456_201951548	201947181	G G	GGAGAGAG others(17): Show GGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp1 HG02155.hp2 HG02293.hp2 others(5): Show HG01978.hp1 HG02155.hp2 HG02293.hp2 HG02738.hp1 HG03831.hp2 NA18940.hp2 NA18960.hp2 NA18993.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0002c0002t0012 a0001c0001t0001 a0002c0002t0002 a0002c0002t0012	a0001c0001t0001g0056 a0001c0001t0001g0078 a0001c0001t0001g0082 others(5): Show a0001c0001t0001g0056 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0101 a0001c0001t0001g0156 a0002c0002t0002g0034 a0002c0002t0002g0042 a0002c0002t0012g0047	8	400	0.0200	24	c.-84 others(33): Show c.-842_-841insTCTCTCTCTCTCTCTCTCTCTCTC		LMOD1	ENSG00000163431.14	transcript	ENST00000367288.5	protein_coding					634		chr1	TogoVar
LMOD1_chr1_201891456_201951548	201948342	A A	AAAAGAAA others(17): Show AAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00544.hp2 others(49): Show HG00140.hp1 HG00280.hp1 HG00544.hp2 HG01070.hp1 HG01071.hp1 HG01123.hp2 HG01192.hp1 HG01257.hp1 HG01261.hp2 HG01515.hp1 HG01515.hp2 HG01981.hp1 HG02004.hp2 HG02056.hp1 HG02083.hp1 HG02129.hp1 HG02165.hp1 HG02293.hp1 HG02486.hp1 HG02602.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02922.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03516.hp1 HG03540.hp1 HG03831.hp1 HG03834.hp2 HG04204.hp2 HG06807.hp1 NA18939.hp2 NA18944.hp1 NA18960.hp1 NA18985.hp2 NA18989.hp1 NA18992.hp2 NA18993.hp2 NA18998.hp1 NA19058.hp2 NA19068.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19085.hp2 NA19086.hp2 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0005c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0015 a0002c0002t0002 a0003c0003t0001 a0005c0005t0001	a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0020 others(49): Show a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0053 a0001c0001t0001g0060 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0098 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0139 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0156 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0182 a0001c0001t0001g0199 a0001c0001t0001g0224 a0001c0001t0001g0236 a0001c0001t0001g0246 a0001c0001t0001g0254 a0001c0001t0001g0268 a0001c0001t0001g0272 a0001c0001t0001g0276 a0001c0001t0001g0287 a0001c0001t0001g0297 a0001c0001t0001g0321 a0001c0001t0001g0353 a0001c0001t0001g0356 a0001c0001t0003g0382 a0001c0001t0003g0387 a0001c0001t0009g0249 a0001c0001t0015g0377 a0002c0002t0002g0002 a0002c0002t0002g0006 a0002c0002t0002g0014 a0002c0002t0002g0036 a0002c0002t0002g0039 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0114 a0002c0002t0002g0117 a0002c0002t0002g0121 a0002c0002t0002g0275 a0003c0003t0001g0292 a0005c0005t0001g0105	52	400	0.1300	24	c.-20 others(35): Show c.-2003_-2002insCTTTCTTTCTTTCTTTCTTTCTTT		LMOD1	ENSG00000163431.14	transcript	ENST00000367288.5	protein_coding					1795		chr1	TogoVar
LMOD3_chr3_69101065_69127595	69110853	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0087 a0001c0001t0003g0087	1	428	0.0023	24	c.165 others(43): Show c.1657-1733_1657-1732insATATATATTTTTTTTTTTTTTTTT		LMOD3	ENSG00000163380.16	transcript	ENST00000420581.7	protein_coding	2/2						chr3	TogoVar
LMOD3_chr3_69101065_69127595	69110853	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0066 a0001c0001t0021g0066	1	428	0.0023	24	c.165 others(43): Show c.1657-1733_1657-1732insATATATATATTTTTTTTTTTTTTT		LMOD3	ENSG00000163380.16	transcript	ENST00000420581.7	protein_coding	2/2						chr3	TogoVar
LMTK2_chr7_98101862_98214638	98140139	T T	TGTCTGTC others(17): Show TGTCTGTCTGTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0236 a0001c0001t0002g0236	1	390	0.0026	24	c.232 others(41): Show c.232-1258_232-1257insGTCTGTCTGTCCTTCCTTCCTTCC		LMTK2	ENSG00000164715.6	transcript	ENST00000297293.6	protein_coding	2/13						chr7	TogoVar
LMX1A_chr1_165196867_165361715	165227544	A A	AATACATA others(17): Show AATACATATGTACATACATACATAC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0274 a0001c0001t0012g0274	1	288	0.0035	24	c.497 others(43): Show c.497-13732_497-13731insGTATGTATGTATGTACATATGTAT		LMX1A	ENSG00000162761.14	transcript	ENST00000342310.7	protein_coding	4/8						chr1	TogoVar
LMX1A_chr1_165196867_165361715	165337888	C C	CTGTGTGT others(17): Show CTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01074.hp1 HG01169.hp2 others(10): Show HG00738.hp1 HG01074.hp1 HG01169.hp2 HG01256.hp2 HG01258.hp1 HG01496.hp2 HG02165.hp2 HG02738.hp1 HG03490.hp2 HG06807.hp1 NA19043.hp1 NA20129.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0001t0009 a0001c0001t0016 others(7): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0016 a0001c0001t0024 a0001c0001t0025 a0001c0002t0009 a0001c0002t0010 a0001c0002t0011 a0001c0003t0009 a0001c0003t0031	a0001c0001t0003g0032 a0001c0001t0009g0004 a0001c0001t0009g0006 others(10): Show a0001c0001t0003g0032 a0001c0001t0009g0004 a0001c0001t0009g0006 a0001c0001t0009g0014 a0001c0001t0016g0254 a0001c0001t0024g0009 a0001c0001t0025g0010 a0001c0002t0009g0012 a0001c0002t0010g0013 a0001c0002t0010g0015 a0001c0002t0011g0021 a0001c0003t0009g0011 a0001c0003t0031g0040	13	288	0.0451	24	c.263 others(43): Show c.263+15187_263+15188insCACACACACACACACACACACACA		LMX1A	ENSG00000162761.14	transcript	ENST00000342310.7	protein_coding	3/8						chr1	TogoVar
LMX1B_chr9_126608928_126706032	126668443	T T	TTTATTAT others(17): Show TTTATTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02055.hp2 HG03195.hp1 others(7): Show HG00609.hp1 HG02055.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03688.hp2 HG03704.hp1 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 a0001c0002 a0001c0003 a0001c0004	a0001c0002t0006 a0001c0002t0013 a0001c0002t0101 others(6): Show a0001c0002t0006 a0001c0002t0013 a0001c0002t0101 a0001c0002t0193 a0001c0003t0115 a0001c0004t0042 a0001c0004t0146 a0001c0004t0182 a0001c0004t0184	a0001c0002t0006g0185 a0001c0002t0013g0183 a0001c0002t0101g0141 others(7): Show a0001c0002t0006g0185 a0001c0002t0013g0183 a0001c0002t0101g0141 a0001c0002t0193g0188 a0001c0003t0115g0207 a0001c0004t0042g0209 a0001c0004t0042g0210 a0001c0004t0146g0213 a0001c0004t0182g0078 a0001c0004t0184g0162	10	342	0.0292	24	c.327 others(43): Show c.327-22390_327-22367dupATTATTATTATTATTATTATTATT		LMX1B	ENSG00000136944.19	transcript	ENST00000373474.9	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr9	TogoVar
LNPK_chr2_175918882_176007267	175941267	A A	ATATATTT others(17): Show ATATATTTATATTTATATTTATATT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01109.hp2 HG01192.hp2 others(7): Show HG00642.hp2 HG01109.hp2 HG01192.hp2 HG01358.hp1 HG01975.hp1 HG01978.hp1 HG02630.hp2 HG03017.hp2 HG03669.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0012 a0001c0001t0061 others(1): Show a0001c0001t0009 a0001c0001t0012 a0001c0001t0061 a0001c0001t0070	a0001c0001t0009g0089 a0001c0001t0009g0090 a0001c0001t0009g0145 others(7): Show a0001c0001t0009g0089 a0001c0001t0009g0090 a0001c0001t0009g0145 a0001c0001t0009g0146 a0001c0001t0012g0133 a0001c0001t0012g0134 a0001c0001t0012g0139 a0001c0001t0012g0143 a0001c0001t0061g0138 a0001c0001t0070g0190	10	368	0.0272	24	c.707 others(41): Show c.707-1634_707-1611dupAATATAAATATAAATATAAATATA		LNPK	ENSG00000144320.14	transcript	ENST00000272748.9	protein_coding	9/12						chr2	TogoVar
LNPK_chr2_175918882_176007267	175951584	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG03098.hp2 HG03453.hp1 others(2): Show HG01167.hp1 HG03098.hp2 HG03453.hp1 HG06807.hp1 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0050 others(1): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0050 a0001c0001t0087	a0001c0001t0005g0096 a0001c0001t0005g0112 a0001c0001t0006g0182 others(2): Show a0001c0001t0005g0096 a0001c0001t0005g0112 a0001c0001t0006g0182 a0001c0001t0050g0341 a0001c0001t0087g0345	5	368	0.0136	24	c.494 others(41): Show c.494-3916_494-3893dupATATATATATATATATATATATAT		LNPK	ENSG00000144320.14	transcript	ENST00000272748.9	protein_coding	8/12						chr2	TogoVar
LNPK_chr2_175918882_176007267	175951607	A A	ATATATAT others(17): Show ATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0134 a0001c0001t0012g0134	1	368	0.0027	24	c.494 others(41): Show c.494-3916_494-3915insGATATATATATATATATATATATA		LNPK	ENSG00000144320.14	transcript	ENST00000272748.9	protein_coding	8/12						chr2	TogoVar
LNX1_chr4_53454301_53596486	53492506	T T	TGAGAGAG others(17): Show TGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01884.hp2 HG02071.hp2 others(3): Show HG01192.hp2 HG01884.hp2 HG02071.hp2 HG03704.hp2 NA18943.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0012 a0001c0001t0001g0095 a0001c0001t0001g0145 others(3): Show a0001c0001t0001g0012 a0001c0001t0001g0095 a0001c0001t0001g0145 a0001c0001t0001g0186 a0001c0001t0001g0294 a0001c0001t0002g0028	6	356	0.0169	24	c.135 others(43): Show c.1350+3493_1350+3516dupTCTCTCTCTCTCTCTCTCTCTCTC		LNX1	ENSG00000072201.14	transcript	ENST00000263925.8	protein_coding	6/10						chr4	TogoVar
LNX1_chr4_53454301_53596486	53495548	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp1 HG00738.hp2 others(10): Show HG00140.hp1 HG00642.hp1 HG00738.hp2 HG01074.hp2 HG01167.hp2 HG01169.hp2 HG01257.hp2 HG01258.hp2 HG01433.hp1 HG02717.hp1 HG03710.hp1 HG04199.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0023 a0001c0001t0004g0039 others(9): Show a0001c0001t0004g0001 a0001c0001t0004g0023 a0001c0001t0004g0039 a0001c0001t0004g0040 a0001c0001t0004g0080 a0001c0001t0004g0083 a0001c0001t0004g0108 a0001c0001t0004g0121 a0001c0001t0004g0122 a0001c0001t0004g0138 a0001c0001t0004g0214 a0001c0001t0004g0229	13	356	0.0365	24	c.135 others(41): Show c.1350+474_1350+475insAAAAAAAAAAAAAAAAAAAAAAAA		LNX1	ENSG00000072201.14	transcript	ENST00000263925.8	protein_coding	6/10						chr4	TogoVar
LNX1_chr4_53454301_53596486	53529102	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00738.hp2 HG01975.hp2 others(5): Show HG00673.hp1 HG00738.hp2 HG01975.hp2 HG03225.hp2 NA18967.hp1 NA18970.hp1 NA19004.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0049 a0001c0001t0001g0269 a0001c0001t0002g0066 others(5): Show a0001c0001t0001g0049 a0001c0001t0001g0269 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0209 a0001c0001t0004g0229 a0001c0001t0004g0289	8	356	0.0225	24	c.381 others(43): Show c.381-20899_381-20876dupGTGTGTGTGTGTGTGTGTGTGTGT		LNX1	ENSG00000072201.14	transcript	ENST00000263925.8	protein_coding	2/10						chr4	TogoVar
LNX2_chr13_27540913_27625529	27560565	G G	GCATATAT others(17): Show GCATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0045 a0001c0001t0005g0045	1	358	0.0028	24	c.122 others(41): Show c.1225-581_1225-580insTATATATATATATATATATATATG		LNX2	ENSG00000139517.9	transcript	ENST00000316334.5	protein_coding	5/9						chr13	TogoVar
LNX2_chr13_27540913_27625529	27560565	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02809.hp1 HG03486.hp2 others(2): Show HG02723.hp2 HG02809.hp1 HG03486.hp2 NA18522.hp1 NA19011.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0020 a0002c0002t0002 a0001c0001t0002 a0001c0001t0020 a0002c0002t0002	a0001c0001t0002g0257 a0001c0001t0002g0267 a0001c0001t0002g0269 others(2): Show a0001c0001t0002g0257 a0001c0001t0002g0267 a0001c0001t0002g0269 a0001c0001t0020g0344 a0002c0002t0002g0335	5	358	0.0140	24	c.122 others(41): Show c.1225-581_1225-580insTATATATATATATATATATATATA		LNX2	ENSG00000139517.9	transcript	ENST00000316334.5	protein_coding	5/9						chr13	TogoVar
LNX2_chr13_27540913_27625529	27560565	G G	GTGTGTAT others(17): Show GTGTGTATGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00673.hp2 HG01081.hp1 others(7): Show HG00639.hp1 HG00673.hp2 HG01081.hp1 HG01106.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 NA18964.hp1 NA19082.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0016 a0001c0001t0003 a0001c0001t0010 a0001c0001t0016	a0001c0001t0003g0276 a0001c0001t0003g0287 a0001c0001t0003g0312 others(6): Show a0001c0001t0003g0276 a0001c0001t0003g0287 a0001c0001t0003g0312 a0001c0001t0003g0317 a0001c0001t0003g0325 a0001c0001t0010g0008 a0001c0001t0010g0321 a0001c0001t0010g0322 a0001c0001t0016g0289	10	358	0.0279	24	c.122 others(41): Show c.1225-581_1225-580insTATATATATATATACACATACACA		LNX2	ENSG00000139517.9	transcript	ENST00000316334.5	protein_coding	5/9						chr13	TogoVar
LOC102723971_chr9_135609183_135624893	135620195	G G	GTCTCCCC others(17): Show GTCTCCCCCTTCTCCCCCTACTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	450	0.0022	24	c.12 others(35): Show c.1243_*1244insTCTCCCCCTTCTCCCCCTACTCCT		LOC102723971	ENSG00000236543.3	transcript	ENST00000430816.3	protein_coding					303		chr9	TogoVar
LOC102723971_chr9_135609183_135624893	135621707	A A	AAAAAAAG others(17): Show AAAAAAAGAGAGGTTATTTTTGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	450	0.0022	24	c.27 others(35): Show c.2755_*2756insAAAAAAGAGAGGTTATTTTTGCTC		LOC102723971	ENSG00000236543.3	transcript	ENST00000430816.3	protein_coding					1815		chr9	TogoVar
LOC102725191_chr7_12499441_12546270	12503233	T T	TAATAAAT others(17): Show TAATAAATAAATAAATAAATAAATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0172 a0003c0003t0002g0172	1	422	0.0024	24	c.-13 others(35): Show c.-1311_-1310insAATAAATAAATAAATAAATAAATA		LOC102725191	ENSG00000226690.9	transcript	ENST00000636804.2	protein_coding					1207		chr7	TogoVar
LOC102725191_chr7_12499441_12546270	12534977	G G	GGGAAGGA others(17): Show GGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02004.hp2 HG00438.hp1 HG02004.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0001 a0004c0004t0001 a0002c0002t0001 a0004c0004t0001	a0002c0002t0001g0209 a0004c0004t0001g0083 a0002c0002t0001g0209 a0004c0004t0001g0083	2	422	0.0047	24	c.767 others(41): Show c.767+3906_767+3929dupGGAAGGAAGGAAGGAAGGAAGGAA		LOC102725191	ENSG00000226690.9	transcript	ENST00000636804.2	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr7	TogoVar
LOC112267897_chr13_63741741_63753176	63746826	C C	CCTGTGGC others(17): Show CCTGTGGCTATGGCTCCAGCTATGG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(338): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0012 a0013 others(4): Show a0001 a0012 a0013 a0014 a0015 a0016 a0017	a0001c0001 a0001c0013 a0012c0015 others(5): Show a0001c0001 a0001c0013 a0012c0015 a0013c0014 a0014c0010 a0015c0011 a0016c0012 a0017c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0022 a0001c0013t0001 a0012c0015t0001 a0013c0014t0001 a0014c0010t0001 a0015c0011t0001 a0016c0012t0001 a0017c0009t0001	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0005g0000 others(13): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0005g0000 a0001c0001t0006g0000 a0001c0001t0008g0000 a0001c0001t0011g0000 a0001c0001t0012g0000 a0001c0001t0014g0000 a0001c0001t0022g0000 a0001c0013t0001g0000 a0012c0015t0001g0000 a0013c0014t0001g0000 a0014c0010t0001g0000 a0015c0011t0001g0000 a0016c0012t0001g0000 a0017c0009t0001g0000	341	426	0.8005	24	c.42_ others(29): Show c.42_65dupCAGCTATGGCTGTGGCTATGGCTC	p.Ser others(35): Show p.Ser22_Gly23insSerTyrGlyCysGlyTyrGlySer	LOC112267897	ENSG00000237378.3	transcript	ENST00000611641.1	protein_coding	1/1	126/1436	66/390	22/129		INFO_REALIGN_3_PRIME	chr13	TogoVar
LOC128092252_chr15_50643802_50691717	50681264	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03579.hp2 NA19240.hp2 HG01884.hp2 HG03579.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0360 a0001c0001t0000g0361 a0001c0001t0000g0362 a0001c0001t0000g0360 a0001c0001t0000g0361 a0001c0001t0000g0362	3	388	0.0077	24	c.187 others(41): Show c.187+5243_187+5266dupGTGTGTGTGTGTGTGTGTGTGTGT		LOC128092252	ENSG00000288645.1	transcript	ENST00000676296.1	protein_coding	1/3						chr15	TogoVar
LOC128125814_chr12_57512712_57525480	57523555	C C	CGATTGTC others(17): Show CGATTGTCTGATGGAGCAGGCATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0001 a0001c0001t0000g0001	1	326	0.0031	24	c.-30 others(35): Show c.-3099_-3076dupCCATGCCTGCTCCATCAGACAATC		LOC128125814	ENSG00000285133.1	transcript	ENST00000642841.1	protein_coding					3076		chr12	TogoVar
LOC128462377_chr16_89312046_89423292	89384879	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02559.hp2 HG00673.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0295 a0001c0001t0000g0302 a0001c0001t0000g0295 a0001c0001t0000g0302	2	366	0.0055	24	c.9+3 others(39): Show c.9+33381_9+33404dupAAAAAAAAAAAAAAAAAAAAAAAA		LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1						chr16	TogoVar
LOC128462377_chr16_89312046_89423292	89409829	A A	AATTTATT others(17): Show AATTTATTTATTTATTTATTTATTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02615.hp1 HG02965.hp1 others(4): Show HG01167.hp1 HG02615.hp1 HG02965.hp1 HG02970.hp1 HG03130.hp2 HG06807.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0041 a0001c0001t0000g0048 a0001c0001t0000g0238 others(4): Show a0001c0001t0000g0041 a0001c0001t0000g0048 a0001c0001t0000g0238 a0001c0001t0000g0239 a0001c0001t0000g0240 a0001c0001t0000g0364 a0001c0001t0000g0365	7	366	0.0191	24	c.9+8 others(37): Show c.9+8431_9+8454dupAAATAAATAAATAAATAAATAAAT		LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1						chr16	TogoVar
LOC128462377_chr16_89312046_89423292	89415829	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02486.hp1 NA18975.hp2 others(3): Show HG00140.hp2 HG02486.hp1 NA18975.hp2 NA18992.hp2 NA19000.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0156 a0001c0001t0000g0157 a0001c0001t0000g0158 others(3): Show a0001c0001t0000g0156 a0001c0001t0000g0157 a0001c0001t0000g0158 a0001c0001t0000g0159 a0001c0001t0000g0160 a0001c0001t0000g0219	6	366	0.0164	24	c.9+2 others(37): Show c.9+2454_9+2455insTTTTTTTTTTTTTTTTTTTTTTTT		LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1						chr16	TogoVar
LOC128706665_chr20_10408708_10439222	10427028	T T	TGACACAC others(17): Show TGACACACACACAGACACACACACA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	408	0.0025	24	c.-21 others(41): Show c.-21-6271_-21-6270insTGTGTGTGTGTCTGTGTGTGTGTC		LOC128706665	ENSG00000285723.2	transcript	ENST00000649912.2	protein_coding	1/2						chr20	TogoVar
LOC128706666_chr20_10408708_10439222	10427028	T T	TGACACAC others(17): Show TGACACACACACAGACACACACACA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	408	0.0025	24	c.-27 others(43): Show c.-275-6271_-275-6270insTGTGTGTGTGTCTGTGTGTGTGTC		LOC128706666	ENSG00000285508.2	transcript	ENST00000713549.1	protein_coding	1/2						chr20	TogoVar
LOC400499_chr16_11367015_11532247	11369976	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0113 a0113	a0113c0135 a0113c0135	a0113c0135t0002 a0113c0135t0002	a0113c0135t0002g0047 a0113c0135t0002g0047	1	310	0.0032	24	c.27 others(35): Show c.2757_*2758insTATATATATATATATATATATATA		LOC400499	ENSG00000188897.10	transcript	ENST00000696174.1	protein_coding					2038		chr16	TogoVar
LOC400499_chr16_11367015_11532247	11499173	G G	GAAGGGAG others(17): Show GAAGGGAGGCAGAGGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00597.hp1 HG00609.hp1 others(62): Show HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00673.hp2 HG00735.hp2 HG01106.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01256.hp2 HG01257.hp2 HG01361.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02074.hp2 HG02083.hp2 HG02129.hp2 HG02135.hp1 HG02165.hp1 HG02257.hp2 HG02293.hp1 HG02572.hp2 HG02735.hp1 HG02895.hp2 HG03209.hp1 HG03486.hp2 HG03491.hp1 HG03540.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04228.hp2 NA18939.hp1 NA18939.hp2 NA18944.hp1 NA18955.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp2 NA18980.hp2 NA18985.hp1 NA18986.hp1 NA18995.hp1 NA18995.hp2 NA19002.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19011.hp2 NA19060.hp2 NA19065.hp2 NA19079.hp2 NA19081.hp1 NA19088.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp2	a0002 a0003 a0004 others(48): Show a0002 a0003 a0004 a0005 a0007 a0012 a0013 a0020 a0021 a0024 a0042 a0043 a0044 a0045 a0047 a0048 a0058 a0067 a0070 a0089 a0094 a0095 a0096 a0098 a0099 a0102 a0103 a0104 a0106 a0108 a0111 a0114 a0115 a0117 a0118 a0119 a0120 a0122 a0123 a0125 a0126 a0127 a0128 a0130 a0132 a0134 a0135 a0137 a0138 a0142 a0145	a0002c0003 a0002c0014 a0003c0002 others(54): Show a0002c0003 a0002c0014 a0003c0002 a0004c0013 a0004c0147 a0004c0148 a0005c0145 a0005c0163 a0005c0271 a0007c0004 a0012c0116 a0012c0117 a0013c0106 a0020c0017 a0021c0015 a0024c0019 a0042c0044 a0043c0102 a0044c0166 a0045c0103 a0047c0115 a0048c0114 a0058c0120 a0067c0119 a0070c0104 a0089c0121 a0094c0107 a0095c0109 a0096c0108 a0098c0112 a0099c0111 a0102c0133 a0103c0136 a0104c0140 a0106c0137 a0108c0138 a0111c0139 a0114c0162 a0115c0128 a0117c0144 a0118c0130 a0119c0146 a0120c0152 a0122c0131 a0123c0126 a0125c0127 a0126c0150 a0127c0149 a0128c0153 a0130c0132 a0132c0155 a0134c0158 a0135c0157 a0137c0142 a0138c0161 a0142c0125 a0145c0165	a0002c0003t0001 a0002c0014t0001 a0002c0014t0003 others(57): Show a0002c0003t0001 a0002c0014t0001 a0002c0014t0003 a0003c0002t0001 a0004c0013t0001 a0004c0147t0001 a0004c0148t0001 a0005c0145t0003 a0005c0163t0011 a0005c0271t0003 a0007c0004t0001 a0007c0004t0004 a0012c0116t0005 a0012c0117t0001 a0013c0106t0004 a0020c0017t0003 a0021c0015t0002 a0024c0019t0001 a0024c0019t0003 a0042c0044t0004 a0043c0102t0001 a0044c0166t0002 a0045c0103t0003 a0047c0115t0003 a0048c0114t0007 a0058c0120t0002 a0067c0119t0003 a0070c0104t0001 a0089c0121t0001 a0094c0107t0004 a0095c0109t0003 a0096c0108t0001 a0098c0112t0002 a0099c0111t0001 a0102c0133t0003 a0103c0136t0004 a0104c0140t0001 a0106c0137t0003 a0108c0138t0001 a0111c0139t0003 a0114c0162t0001 a0115c0128t0001 a0117c0144t0001 a0118c0130t0002 a0119c0146t0002 a0120c0152t0003 a0122c0131t0002 a0123c0126t0005 a0125c0127t0002 a0126c0150t0001 a0127c0149t0003 a0128c0153t0001 a0130c0132t0004 a0132c0155t0001 a0134c0158t0001 a0135c0157t0002 a0137c0142t0001 a0138c0161t0001 a0142c0125t0003 a0145c0165t0001	a0002c0003t0001g0240 a0002c0003t0001g0244 a0002c0014t0001g0151 others(62): Show a0002c0003t0001g0240 a0002c0003t0001g0244 a0002c0014t0001g0151 a0002c0014t0003g0123 a0003c0002t0001g0060 a0003c0002t0001g0136 a0004c0013t0001g0208 a0004c0013t0001g0250 a0004c0147t0001g0146 a0004c0148t0001g0217 a0005c0145t0003g0204 a0005c0163t0011g0258 a0005c0271t0003g0267 a0007c0004t0001g0137 a0007c0004t0004g0066 a0012c0116t0005g0134 a0012c0117t0001g0174 a0013c0106t0004g0140 a0020c0017t0003g0092 a0020c0017t0003g0216 a0021c0015t0002g0063 a0021c0015t0002g0064 a0024c0019t0001g0200 a0024c0019t0003g0260 a0042c0044t0004g0268 a0043c0102t0001g0213 a0044c0166t0002g0061 a0045c0103t0003g0289 a0047c0115t0003g0024 a0048c0114t0007g0167 a0058c0120t0002g0293 a0067c0119t0003g0011 a0070c0104t0001g0110 a0089c0121t0001g0170 a0094c0107t0004g0115 a0095c0109t0003g0243 a0096c0108t0001g0206 a0098c0112t0002g0193 a0099c0111t0001g0241 a0102c0133t0003g0121 a0103c0136t0004g0253 a0104c0140t0001g0160 a0106c0137t0003g0125 a0108c0138t0001g0227 a0111c0139t0003g0133 a0114c0162t0001g0215 a0115c0128t0001g0281 a0117c0144t0001g0234 a0118c0130t0002g0245 a0119c0146t0002g0239 a0120c0152t0003g0207 a0122c0131t0002g0263 a0123c0126t0005g0004 a0125c0127t0002g0299 a0126c0150t0001g0012 a0127c0149t0003g0114 a0128c0153t0001g0189 a0130c0132t0004g0062 a0132c0155t0001g0054 a0134c0158t0001g0094 a0135c0157t0002g0091 a0137c0142t0001g0113 a0138c0161t0001g0154 a0142c0125t0003g0237 a0145c0165t0001g0001	65	310	0.2097	24	c.124 others(43): Show c.1245+1630_1245+1631insTCCCCCCTCCCCTCTGCCTCCCTT		LOC400499	ENSG00000188897.10	transcript	ENST00000696174.1	protein_coding	10/66						chr16	TogoVar
LOC400499_chr16_11367015_11532247	11499281	A A	AGGGGGGA others(17): Show AGGGGGGAAGGGAGGCAGAGGGGAG	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0007 a0007	a0007c0004 a0007c0004	a0007c0004t0004 a0007c0004t0004	a0007c0004t0004g0198 a0007c0004t0004g0198	1	310	0.0032	24	c.124 others(43): Show c.1245+1499_1245+1522dupCTCCCCTCTGCCTCCCTTCCCCCC		LOC400499	ENSG00000188897.10	transcript	ENST00000696174.1	protein_coding	10/66						chr16	TogoVar
LOC400499_chr16_11367015_11532247	11499281	A A	AGGGGGGG others(17): Show AGGGGGGGAAGGGAGGCAGAGGGGA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0129 a0129	a0129c0154 a0129c0154	a0129c0154t0003 a0129c0154t0003	a0129c0154t0003g0279 a0129c0154t0003g0279	1	310	0.0032	24	c.124 others(43): Show c.1245+1522_1245+1523insTCCCCTCTGCCTCCCTTCCCCCCC		LOC400499	ENSG00000188897.10	transcript	ENST00000696174.1	protein_coding	10/66						chr16	TogoVar
LOC400499_chr16_11367015_11532247	11500511	A A	AAATAATA others(17): Show AAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18980.hp1 NA19012.hp1 NA18947.hp2 NA18980.hp1 NA19012.hp1	a0080 a0201 a0240 a0080 a0201 a0240	a0080c0082 a0201c0228 a0240c0261 a0080c0082 a0201c0228 a0240c0261	a0080c0082t0001 a0201c0228t0003 a0240c0261t0003 a0080c0082t0001 a0201c0228t0003 a0240c0261t0003	a0080c0082t0001g0218 a0201c0228t0003g0259 a0240c0261t0003g0124 a0080c0082t0001g0218 a0201c0228t0003g0259 a0240c0261t0003g0124	3	310	0.0097	24	c.124 others(41): Show c.1245+269_1245+292dupATTATTATTATTATTATTATTATT		LOC400499	ENSG00000188897.10	transcript	ENST00000696174.1	protein_coding	10/66						chr16	TogoVar
LOC647264_chr13_63827361_63838053	63832835	G G	GCCATAGC others(17): Show GCCATAGCCACAGCTGTAGCCAGTT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00609.hp1 HG00609.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0000 a0006c0009t0001g0000	1	442	0.0023	24	c.158 others(31): Show c.158_159insAACTGGCTACAGCTGTGGCTATGG	p.Gly others(35): Show p.Gly53_Ser54insThrGlyTyrSerCysGlyTyrGly	LOC647264	ENSG00000285566.2	transcript	ENST00000648713.2	protein_coding	1/1	218/693	158/330	53/109			chr13	TogoVar
LOC729966_chr19_18245034_18260362	18251681	C C	CCCCCCGC others(17): Show CCCCCCGCCCCCGCCCCCGCCCCCG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG02280.hp1 others(15): Show HG01884.hp1 HG02055.hp2 HG02280.hp1 HG02451.hp2 HG02630.hp2 HG02717.hp2 HG02809.hp2 HG02895.hp1 HG03139.hp2 NA18965.hp2 NA18969.hp2 NA18985.hp2 NA19011.hp1 NA19074.hp1 NA19086.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0009	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0006c0007 a0009c0010	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0003c0003t0001 a0006c0007t0001 a0009c0010t0001	a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0003g0048 others(8): Show a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0003g0048 a0002c0002t0001g0012 a0002c0002t0001g0093 a0002c0002t0001g0094 a0003c0003t0001g0037 a0003c0003t0001g0102 a0003c0003t0001g0103 a0006c0007t0001g0051 a0009c0010t0001g0038	18	454	0.0397	24	c.496 others(39): Show c.496+382_496+383insCGGGGGCGGGGGCGGGGGCGGGGG		LOC729966	ENSG00000284797.2	transcript	ENST00000643046.2	protein_coding	2/3						chr19	TogoVar
LOC729966_chr19_18245034_18260362	18251681	C C	CCCCCCGC others(17): Show CCCCCCGCCCCCGTCCCCGCCCCCG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01123.hp1 HG01884.hp2 others(15): Show HG01109.hp1 HG01123.hp1 HG01884.hp2 HG01891.hp2 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02280.hp2 HG02486.hp1 HG02818.hp2 HG02886.hp1 HG02970.hp1 HG03098.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03516.hp1	a0004 a0006 a0004 a0006	a0004c0004 a0006c0007 a0004c0004 a0006c0007	a0004c0004t0002 a0006c0007t0001 a0004c0004t0002 a0006c0007t0001	a0004c0004t0002g0006 a0004c0004t0002g0047 a0006c0007t0001g0018 others(1): Show a0004c0004t0002g0006 a0004c0004t0002g0047 a0006c0007t0001g0018 a0006c0007t0001g0052	18	454	0.0397	24	c.496 others(39): Show c.496+382_496+383insCGGGGGCGGGGACGGGGGCGGGGG		LOC729966	ENSG00000284797.2	transcript	ENST00000643046.2	protein_coding	2/3						chr19	TogoVar
LONP1_chr19_5686834_5725146	5716259	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG04184.hp2 NA18979.hp1 others(2): Show HG02615.hp2 HG04184.hp2 NA18979.hp1 NA18982.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0147 a0001c0001t0001g0214 a0001c0001t0001g0270 others(2): Show a0001c0001t0001g0147 a0001c0001t0001g0214 a0001c0001t0001g0270 a0001c0001t0001g0276 a0001c0001t0002g0081	5	386	0.0130	24	c.430 others(41): Show c.430-2012_430-1989dupATATATATATATATATATATATAT		LONP1	ENSG00000196365.12	transcript	ENST00000360614.8	protein_coding	1/17						chr19	TogoVar
LONP2_chr16_48239300_48362349	48354196	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0047 a0001c0002t0047	a0001c0002t0047g0008 a0001c0002t0047g0008	1	154	0.0065	24	c.24 others(35): Show c.2400_*2423dupTTTTTTTTTTTTTTTTTTTTTTTT		LONP2	ENSG00000102910.14	transcript	ENST00000285737.9	protein_coding	15/15				2424	INFO_REALIGN_3_PRIME	chr16	TogoVar
LORICRIN_chr1_153254687_153267124	153256514	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03225.hp1 HG03098.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0001g0001 a0001c0001t0002g0001	2	422	0.0047	24	c.-32 others(35): Show c.-3243_-3242insTATATATATATATATATATATATA		LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding					3172		chr1	TogoVar
LOXHD1_chr18_46472273_46662220	46545641	T T	TTTTTTTT others(17): Show TTTTTTTTTTTTTTTTTTTTTTTTA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0017	1	270	0.0037	24	c.351 others(41): Show c.3515-221_3515-220insTAAAAAAAAAAAAAAAAAAAAAAA		LOXHD1	ENSG00000167210.17	transcript	ENST00000642948.1	protein_coding	22/40						chr18	TogoVar
LOXHD1_chr18_46472273_46662220	46574388	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02015.hp1 HG02818.hp2 others(5): Show HG01516.hp2 HG02015.hp1 HG02818.hp2 HG03453.hp2 HG03654.hp2 NA18522.hp2 NA18990.hp1 NA19010.hp1	a0001 a0003 a0005 others(3): Show a0001 a0003 a0005 a0011 a0016 a0024	a0001c0001 a0003c0003 a0003c0037 others(4): Show a0001c0001 a0003c0003 a0003c0037 a0005c0005 a0011c0011 a0016c0021 a0024c0038	a0001c0001t0001 a0003c0003t0001 a0003c0037t0002 others(4): Show a0001c0001t0001 a0003c0003t0001 a0003c0037t0002 a0005c0005t0002 a0011c0011t0001 a0016c0021t0001 a0024c0038t0001	a0001c0001t0001g0041 a0003c0003t0001g0067 a0003c0037t0002g0014 others(5): Show a0001c0001t0001g0041 a0003c0003t0001g0067 a0003c0037t0002g0014 a0005c0005t0002g0010 a0011c0011t0001g0170 a0016c0021t0001g0153 a0016c0021t0001g0171 a0024c0038t0001g0045	8	270	0.0296	24	c.197 others(43): Show c.1971-2250_1971-2227dupGTGTGTGTGTGTGTGTGTGTGTGT		LOXHD1	ENSG00000167210.17	transcript	ENST00000642948.1	protein_coding	14/40						chr18	TogoVar
LOXHD1_chr18_46472273_46662220	46608035	G G	GGGAAGGA others(17): Show GGGAAGGAAGGAAGGAAGGAAACAA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0024 a0024	a0024c0038 a0024c0038	a0024c0038t0001 a0024c0038t0001	a0024c0038t0001g0045 a0024c0038t0001g0045	1	270	0.0037	24	c.759 others(41): Show c.759+2740_759+2741insTTGTTTCCTTCCTTCCTTCCTTCC		LOXHD1	ENSG00000167210.17	transcript	ENST00000642948.1	protein_coding	6/40						chr18	TogoVar
LOXHD1_chr18_46472273_46662220	46608035	G G	GGGAAGGA others(17): Show GGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp2 HG01074.hp1 others(10): Show HG00099.hp2 HG00558.hp2 HG01074.hp1 HG02129.hp1 HG02148.hp1 HG02148.hp2 HG02922.hp2 HG03491.hp1 HG03492.hp1 NA19004.hp2 NA19057.hp2 NA19066.hp2 NA19091.hp1	a0001 a0004 a0005 others(3): Show a0001 a0004 a0005 a0010 a0017 a0027	a0001c0001 a0004c0004 a0005c0005 others(3): Show a0001c0001 a0004c0004 a0005c0005 a0010c0008 a0017c0024 a0027c0040	a0001c0001t0001 a0001c0001t0002 a0004c0004t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0004c0004t0001 a0005c0005t0001 a0010c0008t0001 a0017c0024t0001 a0027c0040t0001	a0001c0001t0001g0073 a0001c0001t0001g0079 a0001c0001t0001g0085 others(9): Show a0001c0001t0001g0073 a0001c0001t0001g0079 a0001c0001t0001g0085 a0001c0001t0001g0121 a0001c0001t0002g0035 a0004c0004t0001g0213 a0005c0005t0001g0086 a0010c0008t0001g0002 a0010c0008t0001g0101 a0017c0024t0001g0112 a0017c0024t0001g0113 a0027c0040t0001g0159	13	270	0.0482	24	c.759 others(41): Show c.759+2717_759+2740dupTTCCTTCCTTCCTTCCTTCCTTCC		LOXHD1	ENSG00000167210.17	transcript	ENST00000642948.1	protein_coding	6/40						chr18	TogoVar
LOXL1_chr15_73921462_73957136	73935934	G G	GGTGTGTG others(17): Show GGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0206 a0002c0001t0002g0206	1	448	0.0022	24	c.110 others(43): Show c.1103-6903_1103-6880dupGTGTGTGTGTGTGTGTGTGTGTGT		LOXL1	ENSG00000129038.16	transcript	ENST00000261921.8	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr15	TogoVar

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