Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
IDH3A_chr15_78144362_78176945	78158463	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02723.hp2 HG02486.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0023 a0001c0002t0005g0023	2	386	0.0052	34	c.174 others(49): Show c.174+833_174+834insATATATATATATATATATATATATATATAT TTTT		IDH3A	ENSG00000166411.14	transcript	ENST00000299518.7	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr15	TogoVar
IFITM10_chr11_1727406_1755595	1754549	A A	AGGGGATG others(27): Show AGGGGATGGAGGGATGGAGGGATGGAGGGATGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0172 a0001c0001t0002g0172	1	406	0.0025	34	c.-41 others(45): Show c.-4108_-4107insCTCCATCCCTCCATCCCTCCATCCCTCCATCCCC		IFITM10	ENSG00000244242.2	transcript	ENST00000340134.5	protein_coding					3955		chr11	TogoVar
IFNA6_chr9_21345318_21355887	21355386	A A	AATAAATC others(27): Show AATAAATCAATGTAGTAACCTACATGAACAGAATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0000 a0001c0002t0000	a0001c0002t0000g0000 a0001c0002t0000g0000	1	422	0.0024	34	c.-45 others(45): Show c.-4500_-4499insCATTCTGTTCATGTAGGTTACTACATTGATTTAT		IFNA6	ENSG00000120235.5	transcript	ENST00000380210.2	protein_coding					4500		chr9	TogoVar
IFNAR1_chr21_33319970_33364864	33322587	A A	ACGGAATA others(27): Show ACGGAATATATATATACGGAATATATATATGGAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0096 a0001c0001t0038g0096	1	323	0.0031	34	c.-24 others(45): Show c.-2469_-2468insCGGAATATATATATACGGAATATATATATGGAAT		IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding					2382		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322587	A A	ATGGAATA others(27): Show ATGGAATACAAATATACGGAATATATATATGGAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0032 a0001c0001t0003g0032	1	323	0.0031	34	c.-24 others(45): Show c.-2469_-2468insTGGAATACAAATATACGGAATATATATATGGAAT		IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding					2382		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322715	A A	ATGGAATA others(27): Show ATGGAATATATATATATGGAATATATATATGGAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	323	0.0031	34	c.-23 others(45): Show c.-2341_-2340insTGGAATATATATATATGGAATATATATATGGAAT		IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding					2254		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33323368	G G	GAAATTAG others(27): Show GAAATTAGAATATAGAGATGGAATATATATATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	323	0.0031	34	c.-16 others(45): Show c.-1688_-1687insAAATTAGAATATAGAGATGGAATATATATATGGA		IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding					1601		chr21	TogoVar
IFNL2_chr19_39263396_39275188	39267335	C C	CTCTCTCT others(27): Show CTCTCTCTATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0002 a0003c0003t0001g0002	1	422	0.0024	34	c.-12 others(45): Show c.-1234_-1233insTCTCTCTATATATATATATATATATATATATATA		IFNL2	ENSG00000183709.8	transcript	ENST00000331982.6	protein_coding					1060		chr19	TogoVar
IFNL2_chr19_39263396_39275188	39267335	C C	CTCTCTCT others(27): Show CTCTCTCTCTATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0002 a0003c0003t0001g0002	1	422	0.0024	34	c.-12 others(45): Show c.-1234_-1233insTCTCTCTCTATATATATATATATATATATATATA		IFNL2	ENSG00000183709.8	transcript	ENST00000331982.6	protein_coding					1060		chr19	TogoVar
IFNL2_chr19_39263396_39275188	39267983	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	34	c.-58 others(43): Show c.-586_-585insATATATATATATATATATATATATATATATATAT		IFNL2	ENSG00000183709.8	transcript	ENST00000331982.6	protein_coding					412		chr19	TogoVar
IFT43_chr14_75980763_76088742	75999231	A A	ATATATAT others(27): Show ATATATATAATATTCATTTATATATAAATTCATTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	396	0.0025	34	c.147 others(53): Show c.147+10262_147+10263insATATTCATTTATATATAAATTCATTT TATATATA		IFT43	ENSG00000119650.13	transcript	ENST00000314067.11	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr14	TogoVar
IFT43_chr14_75980763_76088742	75999233	A A	ATATATAT others(27): Show ATATATATAATATTCATTTATATATAAATTCATTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02630.hp2 HG02886.hp2 others(1): Show HG01081.hp1 HG02630.hp2 HG02886.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 others(1): Show a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033	4	396	0.0101	34	c.147 others(53): Show c.147+10264_147+10265insATATTCATTTATATATAAATTCATTT TATATATA		IFT43	ENSG00000119650.13	transcript	ENST00000314067.11	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr14	TogoVar
IFT43_chr14_75980763_76088742	75999235	A A	ATATATAT others(27): Show ATATATATAATATTCATTTATATATAAATTCATTT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	396	0.0025	34	c.147 others(53): Show c.147+10266_147+10267insATATTCATTTATATATAAATTCATTT TATATATA		IFT43	ENSG00000119650.13	transcript	ENST00000314067.11	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr14	TogoVar
IFT56_chr7_139128778_139196986	139193265	A A	ATCAGTCA others(27): Show ATCAGTCAATGTGTGTGTGTTGAGTGTGGAGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0147 a0001c0001t0012g0147	1	330	0.0030	34	c.38 others(45): Show c.3833_*3834insTCAGTCAATGTGTGTGTGTTGAGTGTGGAGTGTG		IFT56	ENSG00000105948.13	transcript	ENST00000464848.5	protein_coding					1280		chr7	TogoVar
IFT80_chr3_160251986_160404225	160381239	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00558.hp2 NA18944.hp2 others(1): Show HG00099.hp1 HG00558.hp2 NA18944.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0010 a0001c0001t0001g0012 a0002c0002t0001g0057 others(1): Show a0001c0001t0001g0010 a0001c0001t0001g0012 a0002c0002t0001g0057 a0002c0002t0001g0058	4	212	0.0189	34	c.259 others(49): Show c.259+263_259+264insATATATATATATATATATATATATATATAT ATAT		IFT80	ENSG00000068885.15	transcript	ENST00000326448.12	protein_coding	3/19						chr3	TogoVar
IFTAP_chr11_36589502_36664272	36661259	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG02258.hp2 HG03471.hp1 others(3): Show HG00738.hp1 HG02258.hp2 HG03471.hp1 HG03669.hp2 NA18522.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0077 others(2): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0077 a0001c0001t0001g0112 a0001c0001t0001g0125	6	358	0.0168	34	c.20 others(45): Show c.2073_*2074insATATATATATATATATATATATATATATATATAT		IFTAP	ENSG00000166352.18	transcript	ENST00000334307.10	protein_coding					1988		chr11	TogoVar
IGBP1C_chr17_58655424_58697045	58689942	T T	TGGGTTCA others(27): Show TGGGTTCATGCAATTCTCCTGCCTCAGCCTCCCTC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	368	0.0027	34	c.-23 others(53): Show c.-231+1996_-231+1997insGAGGGAGGCTGAGGCAGGAGAATTGC ATGAACCC		IGBP1C	ENSG00000266826.3	transcript	ENST00000583666.3	protein_coding	1/1						chr17	TogoVar
IGF1_chr12_102390874_102485563	102428236	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG01074.hp1 others(19): Show HG00099.hp1 HG00280.hp1 HG01074.hp1 HG01192.hp2 HG01255.hp2 HG01978.hp2 HG02027.hp1 HG02071.hp2 HG02109.hp1 HG02280.hp1 HG02602.hp1 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03225.hp1 NA18986.hp1 NA19030.hp1 NA19055.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0025 a0001c0001t0027 a0001c0001t0031 a0001c0001t0073 a0001c0001t0075 a0001c0001t0081 a0001c0001t0082 a0001c0002t0079 a0002c0003t0063	a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0116 others(19): Show a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0263 a0001c0001t0002g0026 a0001c0001t0002g0160 a0001c0001t0002g0162 a0001c0001t0006g0266 a0001c0001t0011g0346 a0001c0001t0012g0039 a0001c0001t0015g0153 a0001c0001t0025g0114 a0001c0001t0027g0125 a0001c0001t0031g0106 a0001c0001t0073g0065 a0001c0001t0075g0143 a0001c0001t0081g0105 a0001c0001t0082g0185 a0001c0002t0079g0147 a0002c0003t0063g0081	22	360	0.0611	34	c.221 others(51): Show c.221-8547_221-8546insTATATATATATATATATATATATATATA TATATA		IGF1	ENSG00000017427.17	transcript	ENST00000337514.11	protein_coding	2/3						chr12	TogoVar
IGF1_chr12_102390874_102485563	102441957	T T	TCTTCTTC others(27): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0212 a0001c0001t0050g0212	1	360	0.0028	34	c.221 others(53): Show c.221-22268_221-22267insGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAG		IGF1	ENSG00000017427.17	transcript	ENST00000337514.11	protein_coding	2/3						chr12	TogoVar
IGF2BP1_chr17_48992385_49061145	48999923	G G	GGTGTGTG others(27): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0013 a0001c0001t0023g0013	1	318	0.0031	34	c.236 others(49): Show c.236+761_236+794dupGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT		IGF2BP1	ENSG00000159217.10	transcript	ENST00000290341.8	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr17	TogoVar
IGF2BP2_chr3_185638130_185830042	185677068	T T	TATATATA others(27): Show TATATATATATATATATAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0019 a0001c0001t0005g0019	1	216	0.0046	34	c.813 others(51): Show c.813-1156_813-1155insCTCTCTCTCTCTCTCTCTATATATATAT ATATAT		IGF2BP2	ENSG00000073792.16	transcript	ENST00000382199.7	protein_coding	7/15						chr3	TogoVar
IGF2BP2_chr3_185638130_185830042	185677068	T T	TATATATA others(27): Show TATATATATATATATATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01361.hp1 HG00735.hp2 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0058 a0001c0001t0001g0037 a0001c0001t0001g0058	2	216	0.0093	34	c.813 others(51): Show c.813-1156_813-1155insCTCTCTCTCTCTATATATATATATATAT ATATAT		IGF2BP2	ENSG00000073792.16	transcript	ENST00000382199.7	protein_coding	7/15						chr3	TogoVar
IGF2BP2_chr3_185638130_185830042	185677068	T T	TATATATA others(27): Show TATATATATATATATATATATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	216	0.0046	34	c.813 others(51): Show c.813-1156_813-1155insCTCTCTCTATATATATATATATATATAT ATATAT		IGF2BP2	ENSG00000073792.16	transcript	ENST00000382199.7	protein_coding	7/15						chr3	TogoVar
IGF2BP2_chr3_185638130_185830042	185677068	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	216	0.0046	34	c.813 others(51): Show c.813-1156_813-1155insCTATATATATATATATATATATATATAT ATATAT		IGF2BP2	ENSG00000073792.16	transcript	ENST00000382199.7	protein_coding	7/15						chr3	TogoVar
IGF2BP2_chr3_185638130_185830042	185751501	A A	AATTCTCC others(27): Show AATTCTCCTGCTGAGGCAGGAGAATTGCTACTAGT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0073 a0001c0001t0011g0073	1	216	0.0046	34	c.240 others(53): Show c.240-53188_240-53155dupACTAGTAGCAATTCTCCTGCCTCAGC AGGAGAAT		IGF2BP2	ENSG00000073792.16	transcript	ENST00000382199.7	protein_coding	2/15						chr3	TogoVar
IGF2BP2_chr3_185638130_185830042	185800718	A A	AAAAAAGA others(27): Show AAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG04184.hp1 HG02970.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0096 a0001c0001t0014g0029 a0001c0001t0001g0096 a0001c0001t0014g0029	2	216	0.0093	34	c.239 others(53): Show c.239+22434_239+22435insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTTT		IGF2BP2	ENSG00000073792.16	transcript	ENST00000382199.7	protein_coding	2/15						chr3	TogoVar
IGF2R_chr6_159964082_160116504	160012745	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0241 a0002c0003t0001g0241	1	310	0.0032	34	c.513 others(51): Show c.513+1979_513+1980insATATATATATATATATATATATATATAT ATATAT		IGF2R	ENSG00000197081.16	transcript	ENST00000356956.6	protein_coding	4/47					INFO_REALIGN_3_PRIME	chr6	TogoVar
IGF2R_chr6_159964082_160116504	160022013	A A	AACACACA others(27): Show AACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0004 a0004	a0004c0062 a0004c0062	a0004c0062t0002 a0004c0062t0002	a0004c0062t0002g0050 a0004c0062t0002g0050	1	310	0.0032	34	c.514 others(51): Show c.514-2531_514-2530insACACACACACACACACACACACACACAC ACACAC		IGF2R	ENSG00000197081.16	transcript	ENST00000356956.6	protein_coding	4/47					INFO_REALIGN_3_PRIME	chr6	TogoVar
IGF2_chr11_2124117_2144389	2127226	T T	TGGGGATG others(27): Show TGGGGATGGATGGTGGCTGGATGGATGTGTCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0081 a0001c0001t0081	a0001c0001t0081g0079 a0001c0001t0081g0079	1	388	0.0026	34	c.57 others(45): Show c.5760_*5761insTCCCGACACATCCATCCAGCCACCATCCATCCCC		IGF2	ENSG00000167244.22	transcript	ENST00000416167.7	protein_coding					1890		chr11	TogoVar
IGFBP2_chr2_216628420_216669436	216631629	C C	CTCTCTCT others(27): Show CTCTCTCTCTCTCTCTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	402	0.0025	34	c.-18 others(45): Show c.-1895_-1894insTCTCTCTCTCTCTCTGTGTGTGTGTGTGTGTGTG		IGFBP2	ENSG00000115457.10	transcript	ENST00000233809.9	protein_coding					1790		chr2	TogoVar
IGFL4_chr19_46034182_46046002	46034734	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG02004.hp1 NA19000.hp1 others(1): Show HG00408.hp2 HG02004.hp1 NA19000.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	454	0.0088	34	c.51 others(45): Show c.5157_*5158insATATATATATATATATATATATATATATATATAT		IGFL4	ENSG00000204869.9	transcript	ENST00000377697.2	protein_coding					4447		chr19	TogoVar
IGFL4_chr19_46034182_46046002	46034736	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	454	0.0022	34	c.51 others(45): Show c.5155_*5156insATATATATATATATATATATATATATATATATAT		IGFL4	ENSG00000204869.9	transcript	ENST00000377697.2	protein_coding					4445		chr19	TogoVar
IGFL4_chr19_46034182_46046002	46034738	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	454	0.0022	34	c.51 others(45): Show c.5153_*5154insATATATATATATATATATATATATATATATATAT		IGFL4	ENSG00000204869.9	transcript	ENST00000377697.2	protein_coding					4443		chr19	TogoVar
IGHMBP2_chr11_68898891_68945601	68915166	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0253 a0002c0002t0002g0253	1	374	0.0027	34	c.912 others(49): Show c.912+173_912+174insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT		IGHMBP2	ENSG00000132740.10	transcript	ENST00000255078.8	protein_coding	6/14					INFO_REALIGN_3_PRIME	chr11	TogoVar
IGSF21_chr1_18102798_18383483	18208376	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA20905.hp2 HG02258.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0020 a0001c0001t0002 a0001c0001t0020	a0001c0001t0002g0062 a0001c0001t0020g0207 a0001c0001t0002g0062 a0001c0001t0020g0207	2	248	0.0081	34	c.71- others(51): Show c.71-19502_71-19501insATATATATATATATATATATATATATAT ATATAT		IGSF21	ENSG00000117154.12	transcript	ENST00000251296.4	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
IGSF21_chr1_18102798_18383483	18225062	A A	ATCTCTCT others(27): Show ATCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0032 a0001c0001t0009g0032	1	248	0.0040	34	c.71- others(49): Show c.71-2812_71-2811insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTC		IGSF21	ENSG00000117154.12	transcript	ENST00000251296.4	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
IGSF21_chr1_18102798_18383483	18225085	T T	TCTCTCTC others(27): Show TCTCTCTCTCTCTCTCTCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0170 a0001c0001t0003g0170	1	248	0.0040	34	c.71- others(49): Show c.71-2812_71-2811insTCTCTCTCTCTCTCTCACACACACACACAC ACAC		IGSF21	ENSG00000117154.12	transcript	ENST00000251296.4	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
IGSF21_chr1_18102798_18383483	18225085	T T	TCTCTCTC others(27): Show TCTCTCTCTCTCTCTCTCTCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0231 a0001c0001t0010g0231	1	248	0.0040	34	c.71- others(49): Show c.71-2812_71-2811insTCTCTCTCTCTCTCTCTCACACACACACAC ACAC		IGSF21	ENSG00000117154.12	transcript	ENST00000251296.4	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
IGSF21_chr1_18102798_18383483	18225085	T T	TCTCTCTC others(27): Show TCTCTCTCTCTCTCTCTCTCTCACACACACACACA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01361.hp1 HG03942.hp1 others(1): Show HG01099.hp1 HG01361.hp1 HG03942.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0013	a0001c0001t0001g0016 a0001c0001t0002g0044 a0001c0001t0005g0237 others(1): Show a0001c0001t0001g0016 a0001c0001t0002g0044 a0001c0001t0005g0237 a0001c0001t0013g0093	4	248	0.0161	34	c.71- others(49): Show c.71-2812_71-2811insTCTCTCTCTCTCTCTCTCTCACACACACAC ACAC		IGSF21	ENSG00000117154.12	transcript	ENST00000251296.4	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
IGSF21_chr1_18102798_18383483	18225085	T T	TCTCTCTC others(27): Show TCTCTCTCTCTCTCTCTCTCTCTCACACACACACA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	1	248	0.0040	34	c.71- others(49): Show c.71-2812_71-2811insTCTCTCTCTCTCTCTCTCTCTCACACACAC ACAC		IGSF21	ENSG00000117154.12	transcript	ENST00000251296.4	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
IGSF21_chr1_18102798_18383483	18225085	T T	TCTCTCTC others(27): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCACACACA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0138 a0002c0002t0012g0138	1	248	0.0040	34	c.71- others(49): Show c.71-2812_71-2811insTCTCTCTCTCTCTCTCTCTCTCTCTCACAC ACAC		IGSF21	ENSG00000117154.12	transcript	ENST00000251296.4	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
IHO1_chr3_49194498_49263106	49214632	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0015 a0002c0003t0002g0015	1	196	0.0051	34	c.56+ others(49): Show c.56+2797_56+2798insATATATATATATATATATATATATTTTTTT TTTT		IHO1	ENSG00000173421.17	transcript	ENST00000452691.7	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr3	TogoVar
IHO1_chr3_49194498_49263106	49214632	A A	ATATATAT others(27): Show ATATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18906.hp2 HG00544.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0002 a0001c0001t0001 a0002c0004t0002	a0001c0001t0001g0166 a0002c0004t0002g0012 a0001c0001t0001g0166 a0002c0004t0002g0012	2	196	0.0102	34	c.56+ others(49): Show c.56+2797_56+2798insATATATATATATATATATATATTTTTTTTT TTTT		IHO1	ENSG00000173421.17	transcript	ENST00000452691.7	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr3	TogoVar
IHO1_chr3_49194498_49263106	49214632	A A	ATATATAT others(27): Show ATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	196	0.0051	34	c.56+ others(49): Show c.56+2797_56+2798insATATATATATATATATATTTTTTTTTTTTT TTTT		IHO1	ENSG00000173421.17	transcript	ENST00000452691.7	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr3	TogoVar
IHO1_chr3_49194498_49263106	49214632	A A	ATATATAT others(27): Show ATATATATATATATATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	196	0.0051	34	c.56+ others(49): Show c.56+2797_56+2798insATATATATATATATTTTTTTTTTTTTTTTT TTTT		IHO1	ENSG00000173421.17	transcript	ENST00000452691.7	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr3	TogoVar
IK_chr5_140642829_140667480	140660784	A A	ATGGGTTG others(27): Show ATGGGTTGGGGGGGGGGGATGGTGATGGGGGATGG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA19005.hp1 NA19005.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0127 a0003c0004t0001g0127	1	380	0.0026	34	c.138 others(43): Show c.1384_1385insGGTTGGGGGGGGGGGATGGTGATGGGGGATGGTG	p.Glu others(5): Show p.Glu462fs	IK	ENSG00000113141.19	transcript	ENST00000417647.7	protein_coding	16/20	1465/1905	1385/1674	462/557		INFO_REALIGN_3_PRIME	chr5	TogoVar
IL12RB1_chr19_18053995_18091934	18088404	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 NA18522.hp1 HG03195.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	2	412	0.0049	34	c.-15 others(45): Show c.-1582_-1581insTTATATATATATATATATATATATATATATATAT		IL12RB1	ENSG00000096996.16	transcript	ENST00000593993.7	protein_coding					1471		chr19	TogoVar
IL13RA1_chrX_118722606_118799533	118795227	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	280	0.0036	34	c.33 others(45): Show c.3373_*3374insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG		IL13RA1	ENSG00000131724.11	transcript	ENST00000371666.8	protein_coding					695		chrX	TogoVar
IL16_chr15_81191879_81319058	81243163	A A	ATATATAC others(27): Show ATATATACATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01106.hp1 HG01069.hp2 HG01106.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0302 a0001c0002t0003g0303 a0001c0002t0003g0302 a0001c0002t0003g0303	2	342	0.0059	34	c.313 others(53): Show c.313-16608_313-16607insATATACATATATATATATATATATAT ATATATTT		IL16	ENSG00000172349.19	transcript	ENST00000683961.1	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr15	TogoVar
IL17RA_chr22_17080000_17120693	17094665	C C	CTATATAT others(27): Show CTATATATATATATATATATGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01256.hp1 HG01258.hp2 HG01070.hp1 HG01256.hp1 HG01258.hp2	a0002 a0002	a0002c0003 a0002c0033 a0002c0003 a0002c0033	a0002c0003t0017 a0002c0033t0008 a0002c0003t0017 a0002c0033t0008	a0002c0003t0017g0011 a0002c0033t0008g0332 a0002c0003t0017g0011 a0002c0033t0008g0332	3	416	0.0072	34	c.139 others(51): Show c.139-2396_139-2395insATATATATATATATATATGTGTATATAT ATATAT		IL17RA	ENSG00000177663.15	transcript	ENST00000319363.11	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr22	TogoVar

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