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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ERC1_chr12_986223_1500931	1198876	TGACAAAC others(80): Show TGACAAACCACCGTCATGATCCAGTCACTTCCCACCAGGCCCCACCTCCA ACACTGGGGATCACAGTTCAACATGAGATTTGGGTGGG	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01257.hp1 HG02451.hp1 others(6): Show HG00639.hp2 HG01257.hp1 HG02451.hp1 HG02572.hp1 HG02717.hp2 HG03139.hp2 HG03209.hp1 HG03579.hp2 NA19030.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0010 a0001c0001 a0002c0002 a0005c0010	a0001c0001t0058 a0002c0002t0016 a0002c0002t0089 others(5): Show a0001c0001t0058 a0002c0002t0016 a0002c0002t0089 a0002c0002t0104 a0002c0002t0131 a0002c0002t0134 a0002c0002t0136 a0005c0010t0082	a0001c0001t0058g0141 a0002c0002t0016g0098 a0002c0002t0016g0101 others(6): Show a0001c0001t0058g0141 a0002c0002t0016g0098 a0002c0002t0016g0101 a0002c0002t0089g0037 a0002c0002t0104g0043 a0002c0002t0131g0065 a0002c0002t0134g0105 a0002c0002t0136g0100 a0005c0010t0082g0126	9	162	0.0556	-87	c.235 others(106): Show c.2351+8843_2351+8929delTCCAGTCACTTCCCACCAGGCCCCAC CTCCAACACTGGGGATCACAGTTCAACATGAGATTTGGGTGGGGACAAAC CACCGTCATGA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERFL_chr19_41902704_41933449	41914569	GTCTCCGT others(80): Show GTCTCCGTCTCTCCCTCCCTTTCCACCATCTCTGTCTCTCCCTCCCCTTC CACCATCTCTGTCTCTGTCTCTCCCTCCCTTTCCACCA	G G	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02486.hp2 HG01981.hp1 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0147 a0001c0002t0002g0199 a0001c0002t0002g0147 a0001c0002t0002g0199	2	330	0.0061	-87	c.-13 others(104): Show c.-13-1724_-13-1638delTGGTGGAAAGGGAGGGAGAGACAGAGAC AGAGATGGTGGAAGGGGAGGGAGAGACAGAGATGGTGGAAAGGGAGGGAG AGACGGAGA	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ERFL_chr19_41902704_41933449	41914574	CGTCTCTC others(80): Show CGTCTCTCCCTCCCTTTCCACCATCTCTGTCTCTCCCTCCCCTTCCACCA TCTCTGTCTCTGTCTCTCCCTCCCTTTCCACCATCTCT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0133 a0001c0002t0002g0133	1	330	0.0030	-87	c.-13 others(104): Show c.-13-1729_-13-1643delAGAGATGGTGGAAAGGGAGGGAGAGACA GAGACAGAGATGGTGGAAGGGGAGGGAGAGACAGAGATGGTGGAAAGGGA GGGAGAGAC	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ETNPPL_chr4_108737053_108768053	108747169	TATATATA others(80): Show TATATATATATAATATATATATATATTATATATATATATAATATATATAT ATATATTATATATATATATATAATATATATATATATTA	T T	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0305 a0002c0002t0001g0305	1	378	0.0027	-87	c.108 others(104): Show c.1083-405_1083-319delTAATATATATATATATTATATATATATA TATAATATATATATATATATTATATATATATATAATATATATATATATTA TATATATAT	ETNPPL	ENSG00000164089.9	transcript	ENST00000296486.8	protein_coding	9/12			chr4	TogoVar
ETS1_chr11_128453765_128592558	128584990	GGAAGGAA others(80): Show GGAAGGAAGGAAGGAAAGAAAGGAAAGAAAGAAGAAAGAAAGAAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00673.hp1 others(13): Show HG00099.hp1 HG00140.hp1 HG00673.hp1 HG01109.hp2 HG01123.hp2 HG01496.hp2 HG02129.hp1 HG02523.hp1 HG02622.hp2 HG02647.hp1 HG03492.hp1 HG03710.hp2 HG03942.hp1 NA18950.hp1 NA18950.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0006 a0001c0001t0016 others(8): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0016 a0001c0001t0021 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0009 a0001c0003t0004	a0001c0001t0001g0054 a0001c0001t0001g0098 a0001c0001t0001g0100 others(13): Show a0001c0001t0001g0054 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0006g0085 a0001c0001t0016g0097 a0001c0001t0021g0099 a0001c0002t0001g0083 a0001c0002t0002g0141 a0001c0002t0003g0053 a0001c0002t0004g0082 a0001c0002t0006g0084 a0001c0002t0009g0029 a0001c0003t0004g0208 a0001c0003t0004g0209	16	286	0.0559	-87	c.-15 others(104): Show c.-15+2411_-15+2497delTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTTCTTTCTTTCTTCTTTCTTTCCTTTCTTTCCTT CCTTCCTTC	ETS1	ENSG00000134954.14	transcript	ENST00000392668.8	protein_coding	1/9			chr11	TogoVar
ETS1_chr11_128453765_128592558	128584994	GGAAGGAA others(80): Show GGAAGGAAGGAAAGAAAGGAAAGAAAGAAGAAAGAAAGAAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAA	G G	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0130 a0001c0002t0028g0130	1	286	0.0035	-87	c.-15 others(104): Show c.-15+2407_-15+2493delTTTCTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTCTTTCTTTCCTTTCTTT CCTTCCTTC	ETS1	ENSG00000134954.14	transcript	ENST00000392668.8	protein_coding	1/9			chr11	TogoVar
ETS1_chr11_128453765_128592558	128585102	AGGAAGGA others(80): Show AGGAAGGAAGGAAGGAAAGAAAGAAGAAAGAAAGAAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01074.hp1 HG01255.hp2 others(6): Show HG00642.hp1 HG01074.hp1 HG01255.hp2 HG02809.hp1 HG03704.hp1 NA18964.hp1 NA18964.hp2 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 others(3): Show a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0001c0002t0003 a0001c0002t0007 a0001c0002t0009	a0001c0001t0003g0101 a0001c0001t0003g0106 a0001c0001t0005g0102 others(6): Show a0001c0001t0003g0101 a0001c0001t0003g0106 a0001c0001t0005g0102 a0001c0001t0005g0104 a0001c0001t0005g0210 a0001c0002t0001g0103 a0001c0002t0003g0116 a0001c0002t0007g0105 a0001c0002t0009g0235	9	286	0.0315	-87	c.-15 others(104): Show c.-15+2299_-15+2385delCTTCTTTCTTTCTTTCTTTCTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTCTTTCTTTCCTTC CTTCCTTCC	ETS1	ENSG00000134954.14	transcript	ENST00000392668.8	protein_coding	1/9			chr11	TogoVar
EXD3_chr9_137301896_137428162	137392926	ATCTGTTC others(80): Show ATCTGTTCCAGGGAGGGCCATTAGTGTTCCAGGGGGTGCTGAGGCTGTTC CAGGGGGCACCGAGGCTGTTCTCGGTGGGGGTGCCGTG	A A	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0020 a0020	a0020c0014 a0020c0014	a0020c0014t0001 a0020c0014t0001	a0020c0014t0001g0074 a0020c0014t0001g0074	1	82	0.0122	-87	c.55+ others(102): Show c.55+2290_55+2376delCACGGCACCCCCACCGAGAACAGCCTCGGT GCCCCCTGGAACAGCCTCAGCACCCCCTGGAACACTAATGGCCCTCCCTG GAACAGA	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	2/21			chr9	TogoVar
FASTKD1_chr2_169523508_169578865	169554497	CTACTAAA others(80): Show CTACTAAAATTACAAAAATTAACAGGGTGTGGTGGTATGTGCCTGTATTC CCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00735.hp1 HG01069.hp2 others(15): Show HG00140.hp1 HG00735.hp1 HG01069.hp2 HG01106.hp1 HG01109.hp1 HG01168.hp1 HG01256.hp2 HG01496.hp1 HG01978.hp1 HG02451.hp1 HG02602.hp1 HG02738.hp1 HG02895.hp2 HG02976.hp1 HG03195.hp2 NA18998.hp1 NA20805.hp2 NA20905.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0100 a0002c0003t0001g0128 a0002c0003t0001g0129 others(15): Show a0002c0003t0001g0100 a0002c0003t0001g0128 a0002c0003t0001g0129 a0002c0003t0001g0130 a0002c0003t0001g0131 a0002c0003t0001g0132 a0002c0003t0001g0133 a0002c0003t0001g0134 a0002c0003t0001g0135 a0002c0003t0001g0136 a0002c0003t0001g0138 a0002c0003t0001g0139 a0002c0003t0001g0140 a0002c0003t0001g0141 a0002c0003t0001g0142 a0002c0003t0001g0143 a0002c0003t0001g0144 a0002c0003t0001g0157	18	392	0.0459	-87	c.121 others(104): Show c.1214+540_1214+626delTCAAGCAATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGAATACAGGCACATACCACCACACCCTGTTAATTTTTGTA ATTTTAGTA	FASTKD1	ENSG00000138399.18	transcript	ENST00000453153.7	protein_coding	7/14			chr2	TogoVar
FBRSL1_chr12_132485151_132590188	132539949	GTGCCCAC others(80): Show GTGCCCACCCAGTCCTGCCCTCCAGCCCCGTGCCCACCCAGTCCTGCCCT CCAGCCCGATGCCCACCCAGTCCTGCCCTCCAGCCCGA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 NA18971.hp1 HG00280.hp1 NA18971.hp1	a0002 a0007 a0002 a0007	a0002c0081 a0007c0010 a0002c0081 a0007c0010	a0002c0081t0002 a0007c0010t0041 a0002c0081t0002 a0007c0010t0041	a0002c0081t0002g0344 a0007c0010t0041g0330 a0002c0081t0002g0344 a0007c0010t0041g0330	2	348	0.0058	-87	c.616 others(104): Show c.616-7997_616-7911delGATGCCCACCCAGTCCTGCCCTCCAGCC CGATGCCCACCCAGTCCTGCCCTCCAGCCCCGTGCCCACCCAGTCCTGCC CTCCAGCCC	FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
FGFRL1_chr4_1006626_1031898	1016102	GTGGTGCC others(80): Show GTGGTGCCCGGTGTGCCTGGGCTGCTCCGTGGTTGGGGCAGCCCCACCTG GGGGCCAAGAGCCCTGGCAGGGGACAGAGCATCAGCTC	G G	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0094 a0001c0001t0010g0094	1	414	0.0024	-87	c.79+ others(102): Show c.79+3539_79+3625delTGGTGCCCGGTGTGCCTGGGCTGCTCCGTG GTTGGGGCAGCCCCACCTGGGGGCCAAGAGCCCTGGCAGGGGACAGAGCA TCAGCTC	FGFRL1	ENSG00000127418.15	transcript	ENST00000510644.6	protein_coding	2/6			chr4	TogoVar
FMO5_chr1_147181261_147230339	147226045	ATTACTTT others(80): Show ATTACTTTTTTTAACTCCTAGGGCCGGGTGGTGGTGCCAAGGTTGTCTGG CAATTTATCTTACTTTTTTTTTTTTCCAACTTTTTGCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	406	0.0025	-87	c.-88 others(96): Show c.-883_-797delAGCAAAAAGTTGGAAAAAAAAAAAAGTAAGATAAAT TGCCAGACAACCTTGGCACCACCACCCGGCCCTAGGAGTTAAAAAAAGTA A	FMO5	ENSG00000131781.13	transcript	ENST00000254090.9	protein_coding		707		chr1	TogoVar
FOXK2_chr17_82514732_82609602	82598065	ACATCCGT others(80): Show ACATCCGTCATCTCATTGACCATTTCTAGGTGTTGGGAACCTTCTGGCTG TTTGAAACCGTATTGTTGACTCCCATCATCTCGCAGTG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01069.hp1 HG01071.hp2 others(3): Show HG00738.hp1 HG01069.hp1 HG01071.hp2 HG01361.hp2 HG02486.hp2 HG02630.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0046 a0003c0004t0020 a0003c0004t0049 others(1): Show a0001c0001t0046 a0003c0004t0020 a0003c0004t0049 a0003c0004t0050	a0001c0001t0046g0249 a0003c0004t0020g0187 a0003c0004t0020g0190 others(3): Show a0001c0001t0046g0249 a0003c0004t0020g0187 a0003c0004t0020g0190 a0003c0004t0020g0191 a0003c0004t0049g0136 a0003c0004t0050g0133	6	308	0.0195	-87	c.178 others(106): Show c.1787-3236_1787-3150delATCCGTCATCTCATTGACCATTTCTA GGTGTTGGGAACCTTCTGGCTGTTTGAAACCGTATTGTTGACTCCCATCA TCTCGCAGTGC	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
FOXN3_chr14_89151177_89422233	89360971	CTCCACCA others(80): Show CTCCACCACTACCACCTCCAGCACCACCTCCACCACCACCTCCACCACCA CCTCCACCACCACCTCCACCACCACCACCTCCAGCACT	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0005 a0001c0001t0020g0005	1	230	0.0044	-87	c.544 others(106): Show c.544-10250_544-10164delAGTGCTGGAGGTGGTGGTGGTGGAGG TGGTGGTGGAGGTGGTGGTGGAGGTGGTGGTGGAGGTGGTGCTGGAGGTG GTAGTGGTGGA	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361121	TACCACCT others(80): Show TACCACCTCCAGCACCACCTCCACCACCACCACCTCCAGCACTACCTCCA GCACCACCTCCACCACCACCACCTCCAGCACCACCACC	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG04228.hp2 NA18995.hp2 HG01192.hp1 HG04228.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0094 a0001c0001t0001 a0001c0001t0007 a0001c0001t0094	a0001c0001t0001g0049 a0001c0001t0007g0061 a0001c0001t0094g0034 a0001c0001t0001g0049 a0001c0001t0007g0061 a0001c0001t0094g0034	3	230	0.0130	-87	c.544 others(106): Show c.544-10400_544-10314delGGTGGTGGTGCTGGAGGTGGTGGTGG TGGAGGTGGTGCTGGAGGTAGTGCTGGAGGTGGTGGTGGTGGAGGTGGTG CTGGAGGTGGT	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361632	CTCCACCA others(80): Show CTCCACCACCACCTCCACCACCACCACCTCCAGCACCACCTCCACCACCA CCTCCACCACCACCTCCACCACTACCACCTCCAGCACT	C C	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0056 a0001c0001t0010g0056	1	230	0.0044	-87	c.544 others(106): Show c.544-10911_544-10825delAGTGCTGGAGGTGGTAGTGGTGGAGG TGGTGGTGGAGGTGGTGGTGGAGGTGGTGCTGGAGGTGGTGGTGGTGGAG GTGGTGGTGGA	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361663	AGCACCAC others(80): Show AGCACCACCTCCACCACCACCTCCACCACCACCTCCACCACTACCACCTC CAGCACTACCTCCACCACCACCACCTCCACCACCACCT	A A	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	230	0.0044	-87	c.544 others(106): Show c.544-10942_544-10856delAGGTGGTGGTGGAGGTGGTGGTGGTG GAGGTAGTGCTGGAGGTGGTAGTGGTGGAGGTGGTGGTGGAGGTGGTGGT GGAGGTGGTGC	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FSHR_chr2_48957157_49159515	49127743	TCTTCTTC others(80): Show TCTTCTTCTTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01928.hp2 HG01978.hp2 others(19): Show HG00738.hp1 HG01928.hp2 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02071.hp2 HG02083.hp2 HG02523.hp1 NA18612.hp1 NA18944.hp1 NA18946.hp1 NA18955.hp2 NA18959.hp1 NA18971.hp1 NA18972.hp2 NA18973.hp1 NA18977.hp2 NA18998.hp1 NA19001.hp1 NA19010.hp2 NA19012.hp1 NA19079.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0008 a0001c0001 a0002c0002 a0007c0008	a0001c0001t0002 a0002c0002t0002 a0007c0008t0002 a0001c0001t0002 a0002c0002t0002 a0007c0008t0002	a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0053 others(19): Show a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0053 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0097 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0116 a0001c0001t0002g0117 a0002c0002t0002g0047 a0002c0002t0002g0052 a0002c0002t0002g0079 a0002c0002t0002g0082 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0098 a0002c0002t0002g0110 a0002c0002t0002g0131 a0007c0008t0002g0118	22	350	0.0629	-87	c.152 others(106): Show c.152+26436_152+26522delGGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAAGAAGAAG	FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	1/9			chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807572	TCCCCCCT others(80): Show TCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCTCCCCCC TCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0035 a0001c0010t0001g0035	1	314	0.0032	-87	c.34 others(98): Show c.3407_*3493delCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCT TCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCC CTC	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3286		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807853	TCCCCCCT others(80): Show TCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCTCCCCCC TCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0076	1	314	0.0032	-87	c.36 others(98): Show c.3688_*3774delCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCT TCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCC CTC	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3567		chr2	TogoVar
GALR1_chr18_77244848_77282900	77252872	CCACCACC others(80): Show CCACCACCATCACCACCACCACCATCACCACCACCACCACCACCACCACC ATCACCACCACCACCACCACCACCACCATCACCACCAT	C C	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0129 a0001c0002t0022g0129	1	366	0.0027	-87	c.666 others(104): Show c.666+1667_666+1753delTCACCACCACCACCATCACCACCACCAC CACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCACCA TCACCACCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GALR1_chr18_77244848_77282900	77252893	CCATCACC others(80): Show CCATCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACC ACCACCATCACCACCATCACCACCACCATCACCACCAT	C C	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0206 a0001c0002t0004g0206	1	366	0.0027	-87	c.666 others(104): Show c.666+1682_666+1768delTCACCACCACCACCACCACCACCACCAT CACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCATCA CCACCATCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GGT1_chr22_24598193_24633996	24605523	TTATATAA others(80): Show TTATATAATATTATATAATGTGTATTATATATTATATAATATTATATAAT GTGTATTATATATATAATATTATATAATGTGTATTATA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02280.hp2 HG03225.hp2 others(1): Show HG01891.hp1 HG02280.hp2 HG03225.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0002c0004 a0001c0007 a0002c0004	a0001c0007t0019 a0002c0004t0010 a0001c0007t0019 a0002c0004t0010	a0001c0007t0019g0259 a0002c0004t0010g0257 a0002c0004t0010g0258 others(1): Show a0001c0007t0019g0259 a0002c0004t0010g0257 a0002c0004t0010g0258 a0002c0004t0010g0260	4	426	0.0094	-87	c.-42 others(106): Show c.-429+2028_-429+2114delTATATAATATTATATAATGTGTATTA TATATATAATATTATATAATGTGTATTATATATATAATATTATATAATGT GTATTATATAT	GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
GGT1_chr22_24598193_24633996	24605638	ATATATAA others(80): Show ATATATAATATTATATAATGTGTATTATATATTTAATATTATATAATGTG TATTATATATTTAATATTATATAATGTGTATTATATAT	A A	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	426	0.0024	-87	c.-42 others(106): Show c.-429+2144_-428-2197delTAATATTATATAATGTGTATTATATA TTTAATATTATATAATGTGTATTATATATTATATAATATTATATAATGTG TATTATATATT	GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
GGT1_chr22_24598193_24633996	24605741	AATGTGTA others(80): Show AATGTGTATTATATATTATATAATATTATATAATGTGTATTATATATTAT ATAATATATGATGTGTATTATATATTATATATTATATG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA19030.hp2 HG02451.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0011 a0001c0006 a0002c0011	a0001c0006t0001 a0002c0011t0005 a0001c0006t0001 a0002c0011t0005	a0001c0006t0001g0276 a0002c0011t0005g0277 a0001c0006t0001g0276 a0002c0011t0005g0277	2	426	0.0047	-87	c.-42 others(106): Show c.-428-2187_-428-2101delTATATAATGTGTATTATATATTATAT AATATATGATGTGTATTATATATTATATATTATATGATGTGTATTATATA TTATATAATAT	GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
GGT1_chr22_24598193_24633996	24605944	TAATATTA others(80): Show TAATATTATATATAATATATTACATATAATATATCATATATTATATTTAT ATAATTTATATAATATATCATATATTATATTTATATAA	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01123.hp1 HG01884.hp2 others(3): Show HG01099.hp1 HG01123.hp1 HG01884.hp2 HG02622.hp2 HG02809.hp1 HG02970.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0001 a0002c0002t0007 a0002c0003t0003 a0001c0001t0001 a0002c0002t0007 a0002c0003t0003	a0001c0001t0001g0136 a0002c0002t0007g0017 a0002c0003t0003g0012 others(3): Show a0001c0001t0001g0136 a0002c0002t0007g0017 a0002c0003t0003g0012 a0002c0003t0003g0013 a0002c0003t0003g0014 a0002c0003t0003g0015	6	426	0.0141	-87	c.-42 others(106): Show c.-428-2009_-428-1923delAATATTATATATAATATATTACATAT AATATATCATATATTATATTTATATAATTTATATAATATATCATATATTA TATTTATATAA	GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15			chr22	TogoVar
GJB7_chr6_87277980_87334278	87323031	TGCTTTTT others(80): Show TGCTTTTTCAGCCCTGCAACACAATGTGTAGAACTTAACGGAATGAAGTT TTCTTTTGGAGGCTTCCAATGCGTCTGTCTTTGAGTAA	T T	splice_acceptor_variant others(3): Show splice_acceptor_variant splice_region_variant 5_prime_UTR_variant intron_variant	HIGH	HG01891.hp2 HG02055.hp1 HG02572.hp1 others(13): Show HG01891.hp2 HG02055.hp1 HG02572.hp1 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG02970.hp2 HG03139.hp2 HG03209.hp1 HG03471.hp2 HG03579.hp2 NA18522.hp1 NA21309.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0008	a0001c0001 a0003c0003 a0005c0005 others(1): Show a0001c0001 a0003c0003 a0005c0005 a0008c0010	a0001c0001t0006 a0001c0001t0013 a0003c0003t0008 others(2): Show a0001c0001t0006 a0001c0001t0013 a0003c0003t0008 a0005c0005t0007 a0008c0010t0008	a0001c0001t0006g0004 a0001c0001t0006g0053 a0001c0001t0006g0055 others(5): Show a0001c0001t0006g0004 a0001c0001t0006g0053 a0001c0001t0006g0055 a0001c0001t0013g0054 a0003c0003t0008g0029 a0005c0005t0007g0028 a0005c0005t0007g0052 a0008c0010t0008g0051	16	382	0.0419	-87	c.-20 others(99): Show c.-205-75_-194delTTACTCAAAGACAGACGCATTGGAAGCCTCCAA AAGAAAACTTCATTCCGTTAAGTTCTACACATTGTGTTGCAGGGCTGAAA AAGC	GJB7	ENSG00000164411.12	transcript	ENST00000525899.6	protein_coding	2/3	38120		chr6	TogoVar
GNA15_chr19_3131033_3168749	3154563	AGGTGGAT others(80): Show AGGTGGATGGATGATGGATGGATGGATAGATGGGTAGATGGATAGATGGA TGGATGAGTGAATGGCTGGATGGGTGGATGGATGGGTG	A A	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG03710.hp2 HG02735.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0298 a0001c0002t0001g0384 a0001c0002t0001g0298 a0001c0002t0001g0384	2	450	0.0044	-87	c.615 others(104): Show c.615-1176_615-1090delGGTGGGTGGATGGATGATGGATGGATGG ATAGATGGGTAGATGGATAGATGGATGGATGAGTGAATGGCTGGATGGGT GGATGGATG	GNA15	ENSG00000060558.4	transcript	ENST00000262958.4	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
GOLGA3_chr12_132763914_132833869	132787624	CCCCTCCC others(80): Show CCCCTCCCCGGAGACCACGGGACCCCTCCCCGGAGACCCCGGGACCCCTC CCCGGAGACCCCGGGACCCCTCCCCGGAGACCCCGGGA	C C	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	308	0.0033	-87	c.281 others(104): Show c.2812-924_2812-838delTCCCGGGGTCTCCGGGGAGGGGTCCCGG GGTCTCCGGGGAGGGGTCCCGGGGTCTCCGGGGAGGGGTCCCGTGGTCTC CGGGGAGGG	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	13/23			chr12	TogoVar
GOLGA3_chr12_132763914_132833869	132787685	CGGGACCC others(80): Show CGGGACCCCTCCCCGGAGACCCCGGGACCCCTCCCCGGAGACCCCGGGAC CCCTCCCCGGAGACCCCGGGACCCCTCCCCGGAGACCA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00423.hp1 others(70): Show HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00609.hp2 HG00673.hp2 HG00741.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01243.hp1 HG01496.hp1 HG01978.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp2 HG02056.hp1 HG02074.hp1 HG02109.hp2 HG02280.hp1 HG02486.hp1 HG02523.hp1 HG02622.hp1 HG02630.hp1 HG02717.hp2 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG03516.hp1 NA18747.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18957.hp1 NA18959.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18989.hp2 NA18991.hp1 NA18994.hp2 NA18998.hp1 NA19002.hp1 NA19005.hp1 NA19009.hp1 NA19010.hp2 NA19012.hp2 NA19043.hp1 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19079.hp1 NA19079.hp2 NA19083.hp2 NA19087.hp1 NA19088.hp2	a0001 a0002 a0010 others(3): Show a0001 a0002 a0010 a0015 a0016 a0017	a0001c0001 a0001c0011 a0001c0024 others(8): Show a0001c0001 a0001c0011 a0001c0024 a0001c0026 a0001c0027 a0001c0034 a0002c0007 a0010c0039 a0015c0021 a0016c0032 a0017c0022	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(20): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0024 a0001c0001t0025 a0001c0001t0066 a0001c0001t0067 a0001c0001t0069 a0001c0001t0072 a0001c0001t0073 a0001c0011t0001 a0001c0011t0074 a0001c0024t0002 a0001c0026t0001 a0001c0027t0001 a0001c0034t0001 a0002c0007t0001 a0002c0007t0070 a0002c0007t0076 a0010c0039t0010 a0015c0021t0068 a0016c0032t0001 a0017c0022t0001	a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 others(70): Show a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0004g0079 a0001c0001t0010g0082 a0001c0001t0010g0083 a0001c0001t0010g0089 a0001c0001t0010g0244 a0001c0001t0024g0094 a0001c0001t0024g0095 a0001c0001t0025g0040 a0001c0001t0066g0031 a0001c0001t0067g0044 a0001c0001t0069g0032 a0001c0001t0072g0075 a0001c0001t0073g0041 a0001c0011t0001g0061 a0001c0011t0074g0067 a0001c0024t0002g0100 a0001c0026t0001g0099 a0001c0027t0001g0085 a0001c0034t0001g0062 a0002c0007t0001g0048 a0002c0007t0001g0058 a0002c0007t0001g0059 a0002c0007t0001g0068 a0002c0007t0001g0071 a0002c0007t0001g0092 a0002c0007t0070g0060 a0002c0007t0076g0076 a0010c0039t0010g0033 a0015c0021t0068g0072 a0016c0032t0001g0034 a0017c0022t0001g0025	73	308	0.2370	-87	c.281 others(104): Show c.2812-985_2812-899delTGGTCTCCGGGGAGGGGTCCCGGGGTCT CCGGGGAGGGGTCCCGGGGTCTCCGGGGAGGGGTCCCGGGGTCTCCGGGG AGGGGTCCC	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	13/23			chr12	TogoVar
GOLGA6C_chr15_75253334_75278455	75272373	ATTTAGAC others(80): Show ATTTAGACCCTCGGGCTAGAAATCATACCACTGTTAATTAGCCACCTTAT TTGGTCTAACAGTTTTTCTTTATAATTCTGAAACTGGG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18957.hp2 NA18995.hp1 NA19054.hp1 NA18957.hp2 NA18995.hp1 NA19054.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0007 a0009c0009t0007	a0009c0009t0007g0001 a0009c0009t0007g0001	3	200	0.0150	-87	c.21 others(98): Show c.2179_*2265delGACCCTCGGGCTAGAAATCATACCACTGTTAATT AGCCACCTTATTTGGTCTAACAGTTTTTCTTTATAATTCTGAAACTGGGT TTA	GOLGA6C	ENSG00000167195.8	transcript	ENST00000300576.6	protein_coding	18/18	2179	INFO_REALIGN_3_PRIME	chr15	TogoVar
GPALPP1_chr13_44984538_45035305	45024175	GTGTGTGT others(80): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTGAGACTGAGTCTC AATCTTCAAGTGTTTTTGCTTGGTATCCCCTAAAACTC	G G	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02155.hp2 NA18950.hp2 others(8): Show HG02135.hp1 HG02155.hp2 NA18950.hp2 NA18953.hp1 NA18955.hp1 NA18978.hp1 NA18995.hp1 NA18998.hp1 NA19084.hp1 NA19086.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0023 a0001c0001t0003 a0001c0001t0023	a0001c0001t0003g0210 a0001c0001t0003g0227 a0001c0001t0003g0233 others(8): Show a0001c0001t0003g0210 a0001c0001t0003g0227 a0001c0001t0003g0233 a0001c0001t0003g0235 a0001c0001t0003g0240 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0003g0249 a0001c0001t0023g0244	11	348	0.0316	-87	c.805 others(104): Show c.805-3576_805-3490delTTTGAGACTGAGTCTCAATCTTCAAGTG TTTTTGCTTGGTATCCCCTAAAACTCTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGT	GPALPP1	ENSG00000133114.18	transcript	ENST00000379151.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC1_chr2_240430663_240473076	240453321	GCCCCGCT others(80): Show GCCCCGCTCCCACCGCCCGCCCCGCTCCCACCGCCCGCCCCGCTCCCTCC GCCCGCCCCGCTCCCTCCGCCCGCCCCGCTCCCTCCGC	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02615.hp2 HG02922.hp1 others(1): Show HG00733.hp2 HG02615.hp2 HG02922.hp1 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0024 a0001c0002 a0001c0005 a0001c0024	a0001c0002t0006 a0001c0005t0005 a0001c0024t0002 a0001c0002t0006 a0001c0005t0005 a0001c0024t0002	a0001c0002t0006g0106 a0001c0005t0005g0072 a0001c0005t0005g0342 others(1): Show a0001c0002t0006g0106 a0001c0005t0005g0072 a0001c0005t0005g0342 a0001c0024t0002g0277	4	398	0.0101	-87	c.167 others(104): Show c.167-5706_167-5620delCCGCTCCCACCGCCCGCCCCGCTCCCAC CGCCCGCCCCGCTCCCTCCGCCCGCCCCGCTCCCTCCGCCCGCCCCGCTC CCTCCGCCC	GPC1	ENSG00000063660.9	transcript	ENST00000264039.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
GPC5_chr13_91393621_92872237	91986860	TAAGCCAG others(80): Show TAAGCCAGAGCTAATTTTGAAGCCTCTGCTTTGCCAATGGATTCTTGTGT AGATAGTTACAAGGTGACTGTGGCTGAATGCTTCATTA	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	42	0.0238	-87	c.140 others(108): Show c.1401+78805_1401+78891delAGCCAGAGCTAATTTTGAAGCCTC TGCTTTGCCAATGGATTCTTGTGTAGATAGTTACAAGGTGACTGTGGCTG AATGCTTCATTAA	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPSM1_chr9_136322539_136364601	136352168	AATGCTGC others(80): Show AATGCTGCGCCGTTGCTGTTGGTGACACCGATGCTGCGCCGTTGCTGTTG GTGACACCGATGCTGCGCCGTTGCTGTTGGTGACACCG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(248): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18942.hp2 NA18943.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18956.hp1 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18975.hp1 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp2 NA19004.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp2 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009 a0012 a0013	a0001c0001 a0001c0003 a0001c0005 others(16): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0010 a0001c0013 a0001c0016 a0002c0004 a0002c0030 a0003c0009 a0005c0023 a0006c0017 a0007c0018 a0008c0022 a0009c0028 a0012c0025 a0013c0026	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(27): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0020 a0001c0001t0024 a0001c0001t0025 a0001c0001t0029 a0001c0003t0002 a0001c0005t0005 a0001c0006t0001 a0001c0007t0001 a0001c0008t0001 a0001c0010t0001 a0001c0013t0009 a0001c0016t0001 a0002c0004t0001 a0002c0030t0030 a0003c0009t0001 a0005c0023t0001 a0006c0017t0001 a0007c0018t0009 a0008c0022t0001 a0009c0028t0001 a0012c0025t0001 a0013c0026t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(215): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0100 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0127 a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0173 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0223 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0243 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0306 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0318 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0329 a0001c0001t0001g0335 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0003g0199 a0001c0001t0003g0257 a0001c0001t0006g0023 a0001c0001t0006g0170 a0001c0001t0006g0189 a0001c0001t0006g0197 a0001c0001t0006g0326 a0001c0001t0007g0062 a0001c0001t0007g0070 a0001c0001t0007g0134 a0001c0001t0007g0301 a0001c0001t0011g0002 a0001c0001t0011g0146 a0001c0001t0012g0035 a0001c0001t0012g0305 a0001c0001t0014g0313 a0001c0001t0016g0117 a0001c0001t0020g0141 a0001c0001t0024g0015 a0001c0001t0025g0317 a0001c0001t0029g0139 a0001c0003t0002g0003 a0001c0003t0002g0013 a0001c0003t0002g0064 a0001c0003t0002g0120 a0001c0003t0002g0121 a0001c0003t0002g0122 a0001c0003t0002g0123 a0001c0003t0002g0124 a0001c0003t0002g0177 a0001c0003t0002g0211 a0001c0003t0002g0222 a0001c0003t0002g0237 a0001c0003t0002g0273 a0001c0003t0002g0308 a0001c0003t0002g0314 a0001c0003t0002g0330 a0001c0003t0002g0331 a0001c0005t0005g0088 a0001c0005t0005g0089 a0001c0005t0005g0090 a0001c0005t0005g0091 a0001c0005t0005g0092 a0001c0005t0005g0093 a0001c0005t0005g0096 a0001c0005t0005g0097 a0001c0005t0005g0098 a0001c0006t0001g0086 a0001c0006t0001g0102 a0001c0006t0001g0103 a0001c0007t0001g0046 a0001c0007t0001g0077 a0001c0007t0001g0156 a0001c0007t0001g0165 a0001c0007t0001g0187 a0001c0008t0001g0006 a0001c0008t0001g0209 a0001c0010t0001g0002 a0001c0010t0001g0265 a0001c0013t0009g0066 a0001c0013t0009g0067 a0001c0016t0001g0204 a0002c0004t0001g0031 a0002c0004t0001g0340 a0002c0004t0001g0341 a0002c0004t0001g0342 a0002c0004t0001g0343 a0002c0030t0030g0171 a0003c0009t0001g0024 a0003c0009t0001g0131 a0003c0009t0001g0226 a0005c0023t0001g0267 a0006c0017t0001g0293 a0007c0018t0009g0278 a0008c0022t0001g0039 a0009c0028t0001g0144 a0012c0025t0001g0040 a0013c0026t0001g0276	251	400	0.6275	-87	c.145 others(106): Show c.1455+2489_1455+2575delACCGATGCTGCGCCGTTGCTGTTGGT GACACCGATGCTGCGCCGTTGCTGTTGGTGACACCGATGCTGCGCCGTTG CTGTTGGTGAC	GPSM1	ENSG00000160360.13	transcript	ENST00000440944.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
HCN2_chr19_584881_622159	604650	CTATGAGG others(80): Show CTATGAGGGTTGTGCTGGGCGGGGTCAGGCAGCAGGGGCGGGGCAATGCG GGTTTTGCTGGGGCAGGGCCAGACATCAGGGGTGGGGA	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0004 a0001c0008t0004	a0001c0008t0004g0385 a0001c0008t0004g0385	1	408	0.0025	-87	c.105 others(104): Show c.1057-392_1057-306delCGGGGTCAGGCAGCAGGGGCGGGGCAAT GCGGGTTTTGCTGGGGCAGGGCCAGACATCAGGGGTGGGGATATGAGGGT TGTGCTGGG	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HINT3_chr6_125951770_125985244	125962225	TATATATA others(80): Show TATATATATACACATATATATATATACACACATATATATATATATACATA CATATATATATACACATATATATATATATATATCACAC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA20300.hp2 HG02145.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0195 a0001c0001t0003g0201 a0001c0001t0003g0195 a0001c0001t0003g0201	2	268	0.0075	-87	c.202 others(104): Show c.202-4652_202-4566delCACATATATATATATACACACATATATA TATATATACATACATATATATATACACATATATATATATATATATCACAC ATATATATA	HINT3	ENSG00000111911.7	transcript	ENST00000229633.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
IDUA_chr4_982044_1009564	999883	GCCCATCT others(80): Show GCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAGGACG CCTGTCCCCTCGGAATGCAGGCCTCGTGGGAATTCAGC	G G	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA19083.hp2 HG00597.hp2 NA19083.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0333 a0002c0003t0001g0302 a0001c0001t0001g0333 a0002c0003t0001g0302	2	426	0.0047	-87	c.300 others(102): Show c.300-684_300-598delGGACGCCTGTCCCCTCGGAATGCAGGCCTC GTGGGAATTCAGCCCCATCTGCAAGTGCAGTGGCAGGGCGGCCCCCTTCT CCCTTGA	IDUA	ENSG00000127415.13	transcript	ENST00000514224.2	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
IDUA_chr4_982044_1009564	999928	GGACGCCT others(80): Show GGACGCCTGTCCCCTCGGAATGCAGGCCTCGTGGGAATTCAGCCCCATCT GCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGAC	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02145.hp1 HG02280.hp2 others(2): Show HG02109.hp1 HG02145.hp1 HG02280.hp2 HG02559.hp2 NA21309.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0031 a0005c0010t0001g0258 a0005c0010t0001g0261 others(1): Show a0005c0010t0001g0031 a0005c0010t0001g0258 a0005c0010t0001g0261 a0005c0010t0001g0263	5	426	0.0117	-87	c.300 others(102): Show c.300-635_300-549delTGCAAGTGCAGTGGCAGGGCGGCCCCCTTC TCCCTTGACGACGCCTGTCCCCTCGGAATGCAGGCCTCGTGGGAATTCAG CCCCATC	IDUA	ENSG00000127415.13	transcript	ENST00000514224.2	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
IDUA_chr4_982044_1009564	999977	TGCAAGTG others(80): Show TGCAAGTGCAGTGGCAGGGCGGCCCCCTTCTCCCTTGACGACGCCTGTCC CCTCGGAATGCAGGCCTCGTGGGAATTCAGCCCCATCG	T T	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA18946.hp1 NA18955.hp2 others(2): Show HG02129.hp2 NA18946.hp1 NA18955.hp2 NA19009.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0164 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0164	5	426	0.0117	-87	c.300 others(102): Show c.300-605_300-519delTCCCTTGACGACGCCTGTCCCCTCGGAATG CAGGCCTCGTGGGAATTCAGCCCCATCGGCAAGTGCAGTGGCAGGGCGGC CCCCTTC	IDUA	ENSG00000127415.13	transcript	ENST00000514224.2	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
IDUA_chr4_982044_1009564	1000007	TCCCTTGA others(80): Show TCCCTTGACGACGCCTGTCCCCTCGGAATGCAGGCCTCGTGGGAATTCAG CCCCATCGGCAAGTGCAGTGGCAGGGCGGCCCCCTTCA	T T	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0022 a0022	a0022c0033 a0022c0033	a0022c0033t0001 a0022c0033t0001	a0022c0033t0001g0237 a0022c0033t0001g0237	1	426	0.0024	-87	c.300 others(102): Show c.300-567_300-481delGTGGGAATTCAGCCCCATCGGCAAGTGCAG TGGCAGGGCGGCCCCCTTCACCCTTGACGACGCCTGTCCCCTCGGAATGC AGGCCTC	IDUA	ENSG00000127415.13	transcript	ENST00000514224.2	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
IL1RAPL2_chrX_104561199_105772829	104761887	CCTTCTCC others(80): Show CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	141	0.0071	-87	c.82+ others(106): Show c.82+102898_82+102984delCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCT	IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1360247	TCCCTTTC others(80): Show TCCCTTTCTCCCTCCATCTTTCTCTCTCTCTCCTGGTCTCTATCTCCCCC TCTCCCTGTCTCTCTGTGTCTGTCTCTGTATCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0004 a0004	a0004c0018 a0004c0018	a0004c0018t0003 a0004c0018t0003	a0004c0018t0003g0112 a0004c0018t0003g0112	1	115	0.0087	-87	c.759 others(104): Show c.759+1363_759+1449delCTTTCTCCCTCCATCTTTCTCTCTCTCT CCTGGTCTCTATCTCCCCCTCTCCCTGTCTCTCTGTGTCTGTCTCTGTAT CTCTCTCCC	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	8/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
INPP5A_chr10_132532787_132788480	132751727	CAGGCAGG others(80): Show CAGGCAGGTGCCCAGGAGGTGTCTTCGTGGAGGCGAGTGCCCAGGAGGTG TCTGGATGGAGGCAGGTGCCCAGGAGGTGTCTGGGTGG	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02809.hp1 HG03130.hp1 others(1): Show HG02486.hp2 HG02809.hp1 HG03130.hp1 NA18522.hp2	a0001 a0001	a0001c0006 a0001c0007 a0001c0009 a0001c0006 a0001c0007 a0001c0009	a0001c0006t0001 a0001c0006t0008 a0001c0007t0008 others(1): Show a0001c0006t0001 a0001c0006t0008 a0001c0007t0008 a0001c0009t0008	a0001c0006t0001g0188 a0001c0006t0008g0187 a0001c0007t0008g0144 others(1): Show a0001c0006t0001g0188 a0001c0006t0008g0187 a0001c0007t0008g0144 a0001c0009t0008g0087	4	204	0.0196	-87	c.903 others(104): Show c.903+1899_903+1985delGGTGTCTTCGTGGAGGCGAGTGCCCAGG AGGTGTCTGGATGGAGGCAGGTGCCCAGGAGGTGTCTGGGTGGAGGCAGG TGCCCAGGA	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INVS_chr9_100094243_100307175	100299501	CCAGCCTT others(80): Show CCAGCCTTGCAAACCACCCACCAAGAATCTCAGCAGAGCCTTTTATTGAC ACACAACACACACACACACACACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02080.hp1 HG00735.hp2 HG02080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0009 a0001c0002t0002 a0001c0002t0009	a0001c0002t0002g0119 a0001c0002t0009g0150 a0001c0002t0002g0119 a0001c0002t0009g0150	2	182	0.0110	-87	c.309 others(105): Show c.3092-1012_3092-926delACACACACACACACACACACACACACA CACACACAGCCTTGCAAACCACCCACCAAGAATCTCAGCAGAGCCTTTTA TTGACACACA	INVS	ENSG00000119509.13	transcript	ENST00000262457.7	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr9	TogoVar
ISOC2_chr19_55447985_55466642	55450309	GAGAGACA others(80): Show GAGAGACAGGGGGACAGGGACCCAGAGAGATGGGGGACAGAGACCCAGAG AGAGGGGGACAGAGACCCAGAGACGGGGACAGAGACCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00642.hp1 HG01243.hp1 others(33): Show HG00639.hp2 HG00642.hp1 HG01243.hp1 HG01516.hp1 HG01517.hp2 HG02004.hp2 HG02257.hp1 HG02451.hp2 HG02572.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp2 HG02809.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp1 HG02976.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03927.hp1 HG06807.hp2 NA18948.hp1 NA18980.hp1 NA18982.hp2 NA19043.hp1 NA19043.hp2 NA19083.hp1 NA20805.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0006c0009	a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 others(6): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0002t0001 a0001c0003t0004 a0001c0003t0006 a0001c0003t0007 a0001c0003t0012 a0006c0009t0004	a0001c0001t0004g0019 a0001c0001t0004g0082 a0001c0001t0004g0092 others(22): Show a0001c0001t0004g0019 a0001c0001t0004g0082 a0001c0001t0004g0092 a0001c0001t0004g0093 a0001c0001t0004g0118 a0001c0001t0004g0163 a0001c0001t0006g0025 a0001c0001t0006g0113 a0001c0001t0010g0074 a0001c0002t0001g0131 a0001c0003t0004g0020 a0001c0003t0004g0047 a0001c0003t0004g0102 a0001c0003t0006g0014 a0001c0003t0006g0042 a0001c0003t0006g0109 a0001c0003t0006g0127 a0001c0003t0006g0128 a0001c0003t0006g0129 a0001c0003t0006g0130 a0001c0003t0007g0057 a0001c0003t0007g0058 a0001c0003t0007g0060 a0001c0003t0012g0083 a0006c0009t0004g0123	36	380	0.0947	-87	c.29 others(98): Show c.2912_*2998delGGGTCTCTGTCCCCGTCTCTGGGTCTCTGTCCCC CTCTCTCTGGGTCTCTGTCCCCCATCTCTCTGGGTCCCTGTCCCCCTGTC TCT	ISOC2	ENSG00000063241.8	transcript	ENST00000425675.7	protein_coding		2675		chr19	TogoVar
ITGA1_chr5_52782916_52964209	52911606	TATATATA others(80): Show TATATATAGTGTATCTACTATATATACTATATATAGTGTATCTACTATAT ATACTATACATATAGTGTATCTACTATATATACTATAC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02723.hp1 HG02976.hp2 others(3): Show HG02109.hp1 HG02723.hp1 HG02976.hp2 HG03225.hp1 HG03471.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0016 a0001c0001t0028 a0001c0001t0061 others(3): Show a0001c0001t0016 a0001c0001t0028 a0001c0001t0061 a0001c0002t0028 a0001c0004t0020 a0001c0004t0079	a0001c0001t0016g0017 a0001c0001t0028g0277 a0001c0001t0061g0178 others(3): Show a0001c0001t0016g0017 a0001c0001t0028g0277 a0001c0001t0061g0178 a0001c0002t0028g0289 a0001c0004t0020g0278 a0001c0004t0079g0094	6	322	0.0186	-87	c.185 others(106): Show c.1857+1193_1857+1279delTAGTGTATCTACTATATATACTATAT ATAGTGTATCTACTATATATACTATACATATAGTGTATCTACTATATATA CTATACATATA	ITGA1	ENSG00000213949.10	transcript	ENST00000282588.7	protein_coding	14/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
ITGB1_chr10_32895318_32963230	32895945	GAGGGGGT others(80): Show GAGGGGGTGCTGAACTGTTTTCCACAGTGGCTGCACCATTTTACATTCCC ACCAGCAGTGCATTCTGGTTTCTGATTTCTATCCTTGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0056 a0001c0003t0001g0056	1	424	0.0024	-87	c.55 others(98): Show c.5538_*5624delGCAAGGATAGAAATCAGAAACCAGAATGCACTGC TGGTGGGAATGTAAAATGGTGCAGCCACTGTGGAAAACAGTTCAGCACCC CCT	ITGB1	ENSG00000150093.20	transcript	ENST00000302278.8	protein_coding		4372		chr10	TogoVar
ITGB5_chr3_124756948_124892365	124789990	TCAGAACC others(80): Show TCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGA CAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTAA	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0008 a0001c0001t0007g0008	1	352	0.0028	-87	c.169 others(106): Show c.1693+6311_1693+6397delTTAACCCTGTCTAGTCAGAGGCGGTT CTGATAACCCTGTCTAGTCAGAGGCGGTTCTGATAACCCTGTCTAGTCAG AGGCGGTTCTG	ITGB5	ENSG00000082781.12	transcript	ENST00000296181.9	protein_coding	10/14			chr3	TogoVar
ITGB5_chr3_124756948_124892365	124790164	TCAGAACC others(80): Show TCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGA CAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTAA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03195.hp2 HG01884.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0005 a0001c0001t0007g0007 a0001c0001t0007g0005 a0001c0001t0007g0007	2	352	0.0057	-87	c.169 others(106): Show c.1693+6137_1693+6223delTTAACCCTGTCTAGTCAGAGGCGGTT CTGATAACCCTGTCTAGTCAGAGGCGGTTCTGATAACCCTGTCTAGTCAG AGGCGGTTCTG	ITGB5	ENSG00000082781.12	transcript	ENST00000296181.9	protein_coding	10/14			chr3	TogoVar

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