JoGo: Joint Open Genome and Omics Platform

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
ICA1L_chr2_202768176_202876766	202847703	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01081.hp1 HG01175.hp2 others(6): Show HG00544.hp2 HG01081.hp1 HG01175.hp2 HG02040.hp2 HG03831.hp2 NA18939.hp1 NA18954.hp1 NA18970.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0007t0014	a0001c0001t0002g0054 a0001c0001t0002g0063 a0001c0001t0002g0109 others(6): Show a0001c0001t0002g0054 a0001c0001t0002g0063 a0001c0001t0002g0109 a0001c0001t0003g0062 a0001c0001t0004g0091 a0001c0001t0004g0096 a0001c0001t0004g0125 a0001c0001t0005g0305 a0001c0007t0014g0127	9	330	0.0273	30	c.-7- others(47): Show c.-7-18688_-7-18687insCATATATATATATATATATATATATATA TA	ICA1L	ENSG00000163596.17	transcript	ENST00000358299.7	protein_coding	1/12			chr2	TogoVar
ICA1_chr7_8108184_8267167	8145764	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03831.hp1 NA19084.hp2 HG01243.hp1 HG03831.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0010 a0001c0001t0002g0105 a0001c0001t0004g0156 a0001c0001t0001g0010 a0001c0001t0002g0105 a0001c0001t0004g0156	3	274	0.0110	30	c.805 others(47): Show c.805-1793_805-1792insCATATATATATATATATATATATATATA TA	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
IDE_chr10_92446684_92579093	92524412	T T	TTATATTA others(23): Show TTATATTATATATAATATATTTTATATAATA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02818.hp2 HG03098.hp2 HG01433.hp1 HG02818.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0011 a0001c0001t0006 a0001c0001t0011	a0001c0001t0006g0019 a0001c0001t0011g0021 a0001c0001t0011g0023 a0001c0001t0006g0019 a0001c0001t0011g0021 a0001c0001t0011g0023	3	314	0.0096	30	c.661 others(47): Show c.661+7306_661+7335dupTATTATATAAAATATATTATATATAATA TA	IDE	ENSG00000119912.18	transcript	ENST00000265986.11	protein_coding	4/24			chr10	TogoVar
IDE_chr10_92446684_92579093	92552857	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0254 a0001c0001t0005g0254	1	314	0.0032	30	c.99- others(47): Show c.99-15308_99-15307insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	IDE	ENSG00000119912.18	transcript	ENST00000265986.11	protein_coding	1/24			chr10	TogoVar
IDH2_chr15_90078045_90107468	90106074	C C	CTTTTATT others(23): Show CTTTTATTTTATTTTATTTTATTTTATTTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03516.hp2 HG03209.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0003 a0001c0001t0011g0003	2	440	0.0046	30	c.-36 others(41): Show c.-3685_-3684insTAAAATAAAATAAAATAAAATAAAATAAAA	IDH2	ENSG00000182054.10	transcript	ENST00000330062.8	protein_coding		3607		chr15	TogoVar
IDH3A_chr15_78144362_78176945	78158463	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0113 a0001c0002t0002g0113	1	386	0.0026	30	c.174 others(45): Show c.174+833_174+834insATATATATATATATATATATATATATATTT	IDH3A	ENSG00000166411.14	transcript	ENST00000299518.7	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
IDO2_chr8_39929651_40021392	39995197	T T	TCTTCTCC others(23): Show TCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC	intron_variant intron_variant	MODIFIER	HG02683.hp1 NA19068.hp1 HG02683.hp1 NA19068.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0002c0002t0007 a0001c0001t0006 a0002c0002t0007	a0001c0001t0006g0232 a0002c0002t0007g0257 a0001c0001t0006g0232 a0002c0002t0007g0257	2	360	0.0056	30	c.667 others(47): Show c.667+5389_667+5418dupCCTTCTCCTTCTCCTTCTCCTTCTCCTT CT	IDO2	ENSG00000188676.15	transcript	ENST00000502986.4	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
IDO2_chr8_39929651_40021392	39995251	C C	CCTTCTCC others(23): Show CCTTCTCCTTCTCCTTCTCCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0203 a0004c0004t0003g0203	1	360	0.0028	30	c.667 others(47): Show c.667+5418_667+5419insCCTTCTCCTTCTCCTTCTTCTTCTTCTT CT	IDO2	ENSG00000188676.15	transcript	ENST00000502986.4	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
IDO2_chr8_39929651_40021392	39995251	C C	CCTTCTCC others(23): Show CCTTCTCCTTCTCCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0177 a0002c0002t0001g0177	1	360	0.0028	30	c.667 others(47): Show c.667+5418_667+5419insCCTTCTCCTTCTTCTTCTTCTTCTTCTT CT	IDO2	ENSG00000188676.15	transcript	ENST00000502986.4	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
IDO2_chr8_39929651_40021392	39995268	T T	TTCTTCTT others(23): Show TTCTTCTTCTTCCTCTTCTTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0210 a0001c0001t0012g0210	1	360	0.0028	30	c.667 others(47): Show c.667+5441_667+5442insCTCTTCTTCTTCTTCTTCCTCTTCTTCT TC	IDO2	ENSG00000188676.15	transcript	ENST00000502986.4	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
IDO2_chr8_39929651_40021392	39995268	T T	TTCTTCTT others(23): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0015 a0001c0007t0015	a0001c0007t0015g0095 a0001c0007t0015g0095	1	360	0.0028	30	c.667 others(47): Show c.667+5452_667+5453insCTTCTTCCTCTTCTTCTTCTTCTTCTTC TT	IDO2	ENSG00000188676.15	transcript	ENST00000502986.4	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
IDO2_chr8_39929651_40021392	39995274	T T	TTCTTCTT others(23): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	HG02886.hp1 homoSapiens_chm13v2.hp1 HG02886.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0130 a0002c0002t0001g0356 a0002c0002t0001g0130 a0002c0002t0001g0356	2	360	0.0056	30	c.667 others(47): Show c.667+5452_667+5453insCTTCTTCTTCTTCCTCTTCTTCTTCTTC TT	IDO2	ENSG00000188676.15	transcript	ENST00000502986.4	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
IFI27L2_chr14_94122781_94134604	94124920	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp2 NA19090.hp2 HG01952.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	433	0.0046	30	c.28 others(41): Show c.2878_*2879insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	IFI27L2	ENSG00000119632.4	transcript	ENST00000238609.4	protein_coding		2860		chr14	TogoVar
IFNAR1_chr21_33319970_33364864	33321822	A A	ATGGAACA others(23): Show ATGGAACATACGTATGTGGACCATACATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0017 a0003c0003t0017	a0003c0003t0017g0131 a0003c0003t0017g0131	1	323	0.0031	30	c.-32 others(41): Show c.-3234_-3233insTGGAACATACGTATGTGGACCATACATATG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3147		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33321833	G G	GTATGTGG others(23): Show GTATGTGGACCATACATATGTGGAACATACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG03579.hp2 NA19240.hp1 HG01891.hp2 HG03579.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0018 a0001c0001t0015 a0001c0001t0018	a0001c0001t0015g0017 a0001c0001t0018g0101 a0001c0001t0015g0017 a0001c0001t0018g0101	3	323	0.0093	30	c.-32 others(41): Show c.-3223_-3222insTATGTGGACCATACATATGTGGAACATACA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3136		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33321842	A A	ACATACAT others(23): Show ACATACATATGTGGAACATACGTATGTGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	323	0.0031	30	c.-32 others(41): Show c.-3214_-3213insCATACATATGTGGAACATACGTATGTGGAC	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3127		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322142	C C	CATGGAAT others(23): Show CATGGAATATATACGTATGGAATATACACGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02976.hp1 HG02615.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0058 a0001c0001t0001g0040 a0001c0001t0001g0058	2	323	0.0062	30	c.-29 others(41): Show c.-2914_-2913insATGGAATATATACGTATGGAATATACACGT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2827		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322155	C C	CGTATGGA others(23): Show CGTATGGAATATACACGTATGGAATATACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02109.hp1 HG02559.hp2 others(5): Show HG01891.hp1 HG02109.hp1 HG02559.hp2 HG02895.hp2 HG02897.hp1 HG03579.hp1 HG03831.hp1 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0005 a0001c0001t0010 a0001c0001t0022 others(3): Show a0001c0001t0005 a0001c0001t0010 a0001c0001t0022 a0002c0002t0016 a0003c0003t0004 a0003c0003t0009	a0001c0001t0005g0019 a0001c0001t0010g0103 a0001c0001t0010g0106 others(5): Show a0001c0001t0005g0019 a0001c0001t0010g0103 a0001c0001t0010g0106 a0001c0001t0022g0120 a0002c0002t0016g0118 a0003c0003t0004g0125 a0003c0003t0009g0117 a0003c0003t0009g0119	8	323	0.0248	30	c.-29 others(41): Show c.-2901_-2900insGTATGGAATATACACGTATGGAATATACAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2814		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322158	A A	ATGGAATA others(23): Show ATGGAATATACACGTATGGAATATACACGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	323	0.0031	30	c.-28 others(41): Show c.-2898_-2897insTGGAATATACACGTATGGAATATACACGTC	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2811		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322263	A A	AATATATA others(23): Show AATATATATATATGGAATATATATCTGGAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0096 a0001c0001t0038g0096	1	323	0.0031	30	c.-27 others(41): Show c.-2793_-2792insATATATATATATGGAATATATATCTGGAAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2706		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322573	T T	TGGAATAT others(23): Show TGGAATATATATATACGGAATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG03130.hp2 HG03225.hp2 HG01358.hp1 HG03130.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0089 a0001c0001t0001g0097 a0001c0001t0001g0039 a0001c0001t0001g0089 a0001c0001t0001g0097	3	323	0.0093	30	c.-24 others(41): Show c.-2483_-2482insGGAATATATATATACGGAATATATATATAC	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2396		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33323316	G G	GAATATAT others(23): Show GAATATATATATATGGAATATATATATGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp1 NA19091.hp2 NA18971.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0055 a0001c0001t0001g0049 a0001c0001t0001g0055	2	323	0.0062	30	c.-17 others(41): Show c.-1740_-1739insAATATATATATATGGAATATATATATGGAA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1653		chr21	TogoVar
IFNL2_chr19_39263396_39275188	39267335	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	422	0.0024	30	c.-12 others(41): Show c.-1234_-1233insTCTCTCTCTCTCTCTATATATATATATATA	IFNL2	ENSG00000183709.8	transcript	ENST00000331982.6	protein_coding		1060		chr19	TogoVar
IFNL2_chr19_39263396_39275188	39267360	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0002 a0003c0003t0001g0002	1	422	0.0024	30	c.-12 others(41): Show c.-1209_-1208insATATATATATATATATATATATATATATAC	IFNL2	ENSG00000183709.8	transcript	ENST00000331982.6	protein_coding		1035		chr19	TogoVar
IFNL2_chr19_39263396_39275188	39267983	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 NA20752.hp1 HG03579.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	422	0.0047	30	c.-58 others(39): Show c.-586_-585insATATATATATATATATATATATATATATAT	IFNL2	ENSG00000183709.8	transcript	ENST00000331982.6	protein_coding		412		chr19	TogoVar
IFNL3_chr19_39238553_39250006	39245644	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 NA18522.hp1 HG02647.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0007 a0002c0002t0003g0007	2	390	0.0051	30	c.-67 others(39): Show c.-678_-677insATATATATATATATATATATATATATATAT	IFNL3	ENSG00000197110.10	transcript	ENST00000413851.3	protein_coding		639		chr19	TogoVar
IFT140_chr16_1505427_1617072	1599487	G G	GCCCCTAC others(23): Show GCCCCTACTGGGAAGTGAGGAGCCCCTCAGC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0129 a0001c0002t0001g0129	1	334	0.0030	30	c.369 others(47): Show c.369+2882_369+2883insGCTGAGGGGCTCCTCACTTCCCAGTAGG GG	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30			chr16	TogoVar
IFT140_chr16_1505427_1617072	1614311	C C	CCCGGGGC others(23): Show CCCGGGGCCGGGGCCGGGGCCGGGGCCGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0146 a0003c0005t0001g0146	1	334	0.0030	30	c.-25 others(41): Show c.-2566_-2565insCCCCGGCCCCGGCCCCGGCCCCGGCCCCGG	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding		2240		chr16	TogoVar
IFT20_chr17_28323326_28340472	28333072	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	360	0.0028	30	c.-2- others(45): Show c.-2-1115_-2-1086dupGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	IFT20	ENSG00000109083.14	transcript	ENST00000395418.8	protein_coding	1/4			chr17	TogoVar
IFT43_chr14_75980763_76088742	75991388	A A	AGTGTGTG others(23): Show AGTGTGTGTGTGTATATTAACAAGAGTGTGT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	396	0.0025	30	c.147 others(47): Show c.147+2423_147+2424insATATTAACAAGAGTGTGTGTGTGTGTGT GT	IFT43	ENSG00000119650.13	transcript	ENST00000314067.11	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr14	TogoVar
IFT43_chr14_75980763_76088742	75999237	A A	ATATAATA others(23): Show ATATAATATTCATTTATATATAAATTCATTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01243.hp2 HG02622.hp1 others(4): Show HG01074.hp1 HG01243.hp2 HG02622.hp1 HG02897.hp2 HG03195.hp2 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0051 a0001c0001t0001g0052 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0132	7	396	0.0177	30	c.147 others(49): Show c.147+10264_147+10265insATATTCATTTATATATAAATTCATTT TATA	IFT43	ENSG00000119650.13	transcript	ENST00000314067.11	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr14	TogoVar
IFT43_chr14_75980763_76088742	75999239	A A	ATATAATA others(23): Show ATATAATATTCATTTATATATAAATTCATTT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02698.hp2 HG02004.hp1 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0216 a0001c0001t0001g0217	2	396	0.0051	30	c.147 others(49): Show c.147+10266_147+10267insATATTCATTTATATATAAATTCATTT TATA	IFT43	ENSG00000119650.13	transcript	ENST00000314067.11	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr14	TogoVar
IFT52_chr20_43585937_43652299	43622767	A A	ATTTTTAT others(23): Show ATTTTTATGTAAATATAAATATATACAAATT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02886.hp1 HG02896.hp2 others(1): Show HG02717.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 others(1): Show a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086	4	300	0.0133	30	c.769 others(47): Show c.769-1122_769-1121insTTTATGTAAATATAAATATATACAAATT TT	IFT52	ENSG00000101052.13	transcript	ENST00000373030.8	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr20	TogoVar
IFT52_chr20_43585937_43652299	43622802	A A	ATGTAAAT others(23): Show ATGTAAATATAAATATATACATATTTTTATG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0082 a0001c0002t0001g0082	1	300	0.0033	30	c.769 others(47): Show c.769-1065_769-1036dupTTTTATGTGTAAATATAAATATATACAT AT	IFT52	ENSG00000101052.13	transcript	ENST00000373030.8	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr20	TogoVar
IFT57_chr3_108155812_108227424	108205946	T T	TTATAATA others(23): Show TTATAATATATAAATATATTATATATTTATA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01515.hp1 HG02602.hp1 others(3): Show HG00642.hp1 HG01515.hp1 HG02602.hp1 HG03710.hp2 HG03927.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0287 others(3): Show a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0003g0289 a0001c0001t0003g0290	6	354	0.0170	30	c.654 others(45): Show c.654+652_654+681dupTATAAATATATAATATATTTATATATTATA	IFT57	ENSG00000114446.5	transcript	ENST00000264538.4	protein_coding	5/10			chr3	TogoVar
IFT80_chr3_160251986_160404225	160381239	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01358.hp1 HG04115.hp2 others(2): Show HG00280.hp1 HG01358.hp1 HG04115.hp2 NA19064.hp2 NA19084.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0013 a0001c0001t0001g0177 a0002c0002t0001g0056 others(2): Show a0001c0001t0001g0013 a0001c0001t0001g0177 a0002c0002t0001g0056 a0002c0002t0001g0059 a0002c0002t0001g0072	5	212	0.0236	30	c.259 others(45): Show c.259+263_259+264insATATATATATATATATATATATATATATAT	IFT80	ENSG00000068885.15	transcript	ENST00000326448.12	protein_coding	3/19			chr3	TogoVar
IFT81_chr12_110119357_110223793	110179773	T T	TATATATA others(23): Show TATATATATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	218	0.0046	30	c.118 others(47): Show c.1189-648_1189-647insTATATATATATATATATATACACACACA CA	IFT81	ENSG00000122970.16	transcript	ENST00000242591.10	protein_coding	11/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
IFT88_chr13_20562157_20696444	20578034	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0108 a0001c0004t0001g0108	1	308	0.0033	30	c.90+ others(45): Show c.90+3587_90+3588insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	IFT88	ENSG00000032742.18	transcript	ENST00000351808.10	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr13	TogoVar
IFTAP_chr11_36589502_36664272	36661259	C C	CATACATA others(23): Show CATACATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp1 HG02630.hp1 HG04228.hp1 HG02300.hp1 HG02630.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0137 a0001c0001t0001g0250 a0001c0001t0001g0253	3	358	0.0084	30	c.20 others(41): Show c.2073_*2074insATACATATATATATATATATATATATATAT	IFTAP	ENSG00000166352.18	transcript	ENST00000334307.10	protein_coding		1988		chr11	TogoVar
IFTAP_chr11_36589502_36664272	36661259	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01891.hp2 HG02895.hp1 others(9): Show HG01175.hp2 HG01891.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 NA18612.hp1 NA18949.hp1 NA18973.hp1 NA18981.hp2 NA18991.hp1 NA19057.hp1 NA19084.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0003c0007t0001 a0001c0001t0001 a0001c0001t0002 a0003c0007t0001	a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0069 others(7): Show a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0069 a0001c0001t0001g0086 a0001c0001t0001g0096 a0001c0001t0001g0104 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0003c0007t0001g0115	12	358	0.0335	30	c.20 others(41): Show c.2073_*2074insATATATATATATATATATATATATATATAT	IFTAP	ENSG00000166352.18	transcript	ENST00000334307.10	protein_coding		1988		chr11	TogoVar
IGDCC3_chr15_65322127_65383002	65356848	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp2 HG03453.hp1 HG03453.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0010 a0001c0001 a0002c0010	a0001c0001t0013 a0002c0010t0014 a0001c0001t0013 a0002c0010t0014	a0001c0001t0013g0278 a0002c0010t0014g0180 a0001c0001t0013g0278 a0002c0010t0014g0180	2	314	0.0064	30	c.409 others(49): Show c.409+18248_409+18249insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	IGDCC3	ENSG00000174498.14	transcript	ENST00000327987.9	protein_coding	2/13			chr15	TogoVar
IGF1R_chr15_98643539_98969530	98661956	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0063 a0001c0020t0063	a0001c0020t0063g0004 a0001c0020t0063g0004	1	210	0.0048	30	c.94+ others(47): Show c.94+12307_94+12308insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	IGF1R	ENSG00000140443.15	transcript	ENST00000650285.1	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
IGF1_chr12_102390874_102485563	102428236	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01109.hp1 HG01167.hp1 others(17): Show HG00741.hp2 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01361.hp2 HG01515.hp1 HG01928.hp2 HG02129.hp1 HG02165.hp1 HG02622.hp1 HG03654.hp1 NA18968.hp1 NA18972.hp1 NA18975.hp2 NA19079.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 a0001c0001t0023 a0001c0001t0024 a0001c0001t0028 a0001c0001t0032 a0001c0001t0038 a0001c0001t0045 a0001c0001t0067 a0001c0001t0072 a0001c0001t0076 a0001c0001t0092	a0001c0001t0001g0131 a0001c0001t0001g0136 a0001c0001t0001g0164 others(17): Show a0001c0001t0001g0131 a0001c0001t0001g0136 a0001c0001t0001g0164 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0173 a0001c0001t0015g0174 a0001c0001t0023g0022 a0001c0001t0023g0023 a0001c0001t0023g0043 a0001c0001t0024g0064 a0001c0001t0028g0107 a0001c0001t0032g0252 a0001c0001t0038g0137 a0001c0001t0038g0138 a0001c0001t0045g0019 a0001c0001t0067g0042 a0001c0001t0072g0237 a0001c0001t0076g0115 a0001c0001t0092g0156	20	360	0.0556	30	c.221 others(47): Show c.221-8547_221-8546insTATATATATATATATATATATATATATA TA	IGF1	ENSG00000017427.17	transcript	ENST00000337514.11	protein_coding	2/3			chr12	TogoVar
IGF1_chr12_102390874_102485563	102441906	G G	GCTGCTGC others(23): Show GCTGCTGCTGCTGCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02602.hp2 HG02922.hp1 others(1): Show HG01192.hp1 HG02602.hp2 HG02922.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0028 a0001c0001t0096 a0001c0001t0001 a0001c0001t0028 a0001c0001t0096	a0001c0001t0001g0272 a0001c0001t0028g0107 a0001c0001t0028g0179 others(1): Show a0001c0001t0001g0272 a0001c0001t0028g0107 a0001c0001t0028g0179 a0001c0001t0096g0008	4	360	0.0111	30	c.221 others(49): Show c.221-22217_221-22216insAAGAAGAAGAAGAAGAAGCAGCAGCA GCAG	IGF1	ENSG00000017427.17	transcript	ENST00000337514.11	protein_coding	2/3			chr12	TogoVar
IGF1_chr12_102390874_102485563	102441906	G G	GCTGCTGC others(23): Show GCTGCTGCTGCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01952.hp2 HG01993.hp1 others(9): Show HG01433.hp1 HG01952.hp2 HG01993.hp1 HG02257.hp1 HG02738.hp1 HG03130.hp1 HG03669.hp2 HG03710.hp2 NA18972.hp1 NA18978.hp2 NA18980.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0029 a0001c0001t0041 a0001c0001t0091	a0001c0001t0001g0268 a0001c0001t0002g0006 a0001c0001t0002g0102 others(9): Show a0001c0001t0001g0268 a0001c0001t0002g0006 a0001c0001t0002g0102 a0001c0001t0002g0167 a0001c0001t0002g0175 a0001c0001t0002g0177 a0001c0001t0014g0176 a0001c0001t0015g0148 a0001c0001t0016g0178 a0001c0001t0029g0113 a0001c0001t0041g0336 a0001c0001t0091g0124	12	360	0.0333	30	c.221 others(49): Show c.221-22217_221-22216insAAGAAGAAGAAGAAGAAGAAGCAGCA GCAG	IGF1	ENSG00000017427.17	transcript	ENST00000337514.11	protein_coding	2/3			chr12	TogoVar
IGF1_chr12_102390874_102485563	102441906	G G	GCTGCTGC others(23): Show GCTGCTGCTTCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18942.hp1 NA18975.hp2 others(5): Show NA18941.hp2 NA18942.hp1 NA18975.hp2 NA19062.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0021 others(1): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0021 a0001c0001t0037	a0001c0001t0001g0136 a0001c0001t0001g0356 a0001c0001t0011g0346 others(5): Show a0001c0001t0001g0136 a0001c0001t0001g0356 a0001c0001t0011g0346 a0001c0001t0011g0348 a0001c0001t0011g0351 a0001c0001t0021g0347 a0001c0001t0021g0350 a0001c0001t0037g0159	8	360	0.0222	30	c.221 others(49): Show c.221-22217_221-22216insAAGAAGAAGAAGAAGAAGAAGAAGCA GCAG	IGF1	ENSG00000017427.17	transcript	ENST00000337514.11	protein_coding	2/3			chr12	TogoVar
IGF1_chr12_102390874_102485563	102441906	G G	GCTTCTTC others(23): Show GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01934.hp1 others(2): Show HG01070.hp1 HG01071.hp2 HG01934.hp1 NA18946.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0316 a0001c0001t0004g0318 a0001c0001t0004g0319 others(2): Show a0001c0001t0004g0316 a0001c0001t0004g0318 a0001c0001t0004g0319 a0001c0001t0004g0331 a0001c0001t0004g0332	5	360	0.0139	30	c.221 others(49): Show c.221-22217_221-22216insAAGAAGAAGAAGAAGAAGAAGAAGAA GAAG	IGF1	ENSG00000017427.17	transcript	ENST00000337514.11	protein_coding	2/3			chr12	TogoVar
IGF1_chr12_102390874_102485563	102441915	C C	CCTTCTTC others(23): Show CCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0028 a0001c0001t0059g0028	1	360	0.0028	30	c.221 others(49): Show c.221-22255_221-22226dupAAGAAGAAGAAGAAGAAGAAGAAGAA GAAG	IGF1	ENSG00000017427.17	transcript	ENST00000337514.11	protein_coding	2/3			chr12	TogoVar
IGF2BP1_chr17_48992385_49061145	49059984	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	318	0.0031	30	c.10 others(43): Show c.10540_*10541insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	IGF2BP1	ENSG00000159217.10	transcript	ENST00000290341.8	protein_coding		3840		chr17	TogoVar
IGF2BP2_chr3_185638130_185830042	185677068	T T	TATATATA others(23): Show TATATATATATAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0075 a0001c0001t0013g0075	1	216	0.0046	30	c.813 others(47): Show c.813-1156_813-1155insCTCTCTCTCTCTCTCTCTCTATATATAT AT	IGF2BP2	ENSG00000073792.16	transcript	ENST00000382199.7	protein_coding	7/15			chr3	TogoVar

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