Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ICA1L_chr2_202768176_202876766	202773115	A A	AACCTCCT others(29): Show AACCTCCTCTCAGACCAGAACCCTATTCCCCTCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0141 a0001c0001t0075g0141	1	330	0.0030	36	c.64 others(47): Show c.6417_*6418insGGGAGAGGGGAATAGGGTTCTGGTCTGAGAGGAG GT	ICA1L	ENSG00000163596.17	transcript	ENST00000358299.7	protein_coding		60		chr2	TogoVar
ICA1L_chr2_202768176_202876766	202836818	T T	TATATAGA others(29): Show TATATAGATATAGATATAGATATATATAGATATATAG	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01358.hp1 HG01169.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0064 a0001c0001t0001 a0001c0001t0064	a0001c0001t0001g0264 a0001c0001t0064g0262 a0001c0001t0001g0264 a0001c0001t0064g0262	2	330	0.0061	36	c.-7- others(51): Show c.-7-7803_-7-7802insCTATATATCTATATATATCTATATCTATAT CTATAT	ICA1L	ENSG00000163596.17	transcript	ENST00000358299.7	protein_coding	1/12			chr2	TogoVar
ICA1L_chr2_202768176_202876766	202847695	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01884.hp1 HG02717.hp2 others(4): Show HG01496.hp1 HG01884.hp1 HG02717.hp2 HG02818.hp1 HG03453.hp1 NA18952.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0001t0008 a0001c0001t0030 others(2): Show a0001c0001t0006 a0001c0001t0008 a0001c0001t0030 a0001c0001t0083 a0001c0003t0065	a0001c0001t0006g0269 a0001c0001t0006g0275 a0001c0001t0006g0288 others(4): Show a0001c0001t0006g0269 a0001c0001t0006g0275 a0001c0001t0006g0288 a0001c0001t0008g0008 a0001c0001t0030g0012 a0001c0001t0083g0271 a0001c0003t0065g0019	7	330	0.0212	36	c.-7- others(53): Show c.-7-18680_-7-18679insTATATATATATATATATATATATATATA TATATATA	ICA1L	ENSG00000163596.17	transcript	ENST00000358299.7	protein_coding	1/12			chr2	TogoVar
ICA1L_chr2_202768176_202876766	202847703	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02293.hp2 NA19240.hp2 HG02293.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0025 a0001c0001t0021 a0001c0001t0025	a0001c0001t0021g0075 a0001c0001t0025g0131 a0001c0001t0021g0075 a0001c0001t0025g0131	2	330	0.0061	36	c.-7- others(53): Show c.-7-18688_-7-18687insCATATATATATATATATATATATATATA TATATATA	ICA1L	ENSG00000163596.17	transcript	ENST00000358299.7	protein_coding	1/12			chr2	TogoVar
ICA1_chr7_8108184_8267167	8145764	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0114 a0001c0002t0001g0114	1	274	0.0037	36	c.805 others(53): Show c.805-1793_805-1792insCATATATATATATATATATATATATATA TATATATA	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
ICAM2_chr17_63997595_64025633	64014330	G G	GGAAAGAA others(29): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0314 a0001c0001t0001g0314	1	392	0.0026	36	c.-45 others(53): Show c.-45+6157_-45+6192dupTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTC	ICAM2	ENSG00000108622.11	transcript	ENST00000579788.6	protein_coding	1/4			chr17	TogoVar
ICAM2_chr17_63997595_64025633	64025036	C C	CGGGGGGG others(29): Show CGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0320 a0001c0001t0001g0320	1	392	0.0026	36	c.-45 others(47): Show c.-4559_-4558insTCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCC CC	ICAM2	ENSG00000108622.11	transcript	ENST00000579788.6	protein_coding		4404		chr17	TogoVar
ICE1_chr5_5417677_5495220	5492980	A A	AGGAAGGA others(29): Show AGGAAGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0101 a0002c0004t0001g0101	1	364	0.0028	36	c.36 others(47): Show c.3650_*3651insGGAAGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG AG	ICE1	ENSG00000164151.12	transcript	ENST00000296564.9	protein_coding		2761		chr5	TogoVar
ICOSLG_chr21_44217991_44245943	44219783	A A	AGAGGAGG others(29): Show AGAGGAGGAGGAGGAAGAGGAGGAGGAGGAGGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0006 a0002c0005t0006	a0002c0005t0006g0007 a0002c0005t0006g0007	1	41	0.0244	36	c.92 others(47): Show c.9215_*9250dupCTCTTCCTCCTCCTCCTCCTCTTCCTCCTCCTCC TC	ICOSLG	ENSG00000160223.18	transcript	ENST00000407780.8	protein_coding		3207		chr21	TogoVar
IDH3A_chr15_78144362_78176945	78158463	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0094 a0001c0002t0005g0094	1	386	0.0026	36	c.174 others(51): Show c.174+833_174+834insATATATATATATATATATATATATATATAT ATATTT	IDH3A	ENSG00000166411.14	transcript	ENST00000299518.7	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
IDO2_chr8_39929651_40021392	39995251	C C	CCTTCTCC others(29): Show CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0014 a0002c0011t0014	a0002c0011t0014g0263 a0002c0011t0014g0263	1	360	0.0028	36	c.667 others(53): Show c.667+5418_667+5419insCCTTCTCCTTCTCCTTCTCCTTCTTCTT CTTCTTCT	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(29): Show CCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03453.hp1 HG02145.hp2 HG03453.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0005 a0002c0002 a0005c0005	a0002c0002t0001 a0005c0005t0009 a0002c0002t0001 a0005c0005t0009	a0002c0002t0001g0094 a0005c0005t0009g0194 a0002c0002t0001g0094 a0005c0005t0009g0194	2	360	0.0056	36	c.667 others(53): Show c.667+5418_667+5419insCCTTCTCCTTCTCCTTCTTCTTCTTCTT CTTCTTCT	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(29): Show CCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG04228.hp1 HG02129.hp1 HG04228.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0025 a0002c0002t0007 a0002c0002t0025	a0002c0002t0007g0176 a0002c0002t0025g0313 a0002c0002t0007g0176 a0002c0002t0025g0313	2	360	0.0056	36	c.667 others(53): Show c.667+5418_667+5419insCCTTCTCCTTCTTCTTCTTCTTCTTCTT CTTCTTCT	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(29): Show CCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA19063.hp2 NA19081.hp1 HG03209.hp1 NA19063.hp2 NA19081.hp1	a0002 a0002	a0002c0002 a0002c0011 a0002c0002 a0002c0011	a0002c0002t0005 a0002c0002t0009 a0002c0011t0014 a0002c0002t0005 a0002c0002t0009 a0002c0011t0014	a0002c0002t0005g0332 a0002c0002t0009g0226 a0002c0011t0014g0199 a0002c0002t0005g0332 a0002c0002t0009g0226 a0002c0011t0014g0199	3	360	0.0083	36	c.667 others(53): Show c.667+5418_667+5419insCCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCT	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(29): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01884.hp2 HG01123.hp2 HG01884.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0007 a0002c0002t0001 a0002c0002t0007	a0002c0002t0001g0088 a0002c0002t0007g0227 a0002c0002t0001g0088 a0002c0002t0007g0227	2	360	0.0056	36	c.667 others(53): Show c.667+5452_667+5453insCTTCTTCTTCTTCTTCTTCCTCTTCTTC TTCTTCTT	IDO2	ENSG00000188676.15	transcript	ENST00000502986.4	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
IFFO2_chr1_18899280_18961676	18925956	T T	TTGGTTGG others(29): Show TTGGTTGGATGGATGGATGGATGGATGGATGGATGGA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00621.hp2 HG01099.hp1 others(12): Show HG00408.hp2 HG00621.hp2 HG01099.hp1 HG02083.hp1 HG02572.hp1 HG02630.hp2 HG02886.hp1 HG02922.hp2 HG03516.hp2 NA18943.hp2 NA19004.hp2 NA19012.hp2 NA19082.hp1 NA19084.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0026 a0001c0001t0037 a0001c0001t0046	a0001c0001t0001g0070 a0001c0001t0002g0216 a0001c0001t0004g0047 others(12): Show a0001c0001t0001g0070 a0001c0001t0002g0216 a0001c0001t0004g0047 a0001c0001t0004g0065 a0001c0001t0004g0068 a0001c0001t0006g0008 a0001c0001t0006g0072 a0001c0001t0006g0073 a0001c0001t0008g0066 a0001c0001t0011g0042 a0001c0001t0012g0166 a0001c0001t0015g0217 a0001c0001t0026g0040 a0001c0001t0037g0011 a0001c0001t0046g0041	15	376	0.0399	36	c.666 others(53): Show c.666-4871_666-4836dupTCCATCCATCCATCCATCCATCCATCCA TCCAACCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFNA2_chr9_21379255_21390398	21387241	A A	AATATCTA others(29): Show AATATCTACTAGGTCCATTTGGCCTATGGTGCAGATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	478	0.0021	36	c.-19 others(47): Show c.-1913_-1912insCATCTGCACCATAGGCCAAATGGACCTAGTAGAT AT	IFNA2	ENSG00000188379.7	transcript	ENST00000380206.4	protein_coding		1844		chr9	TogoVar
IFNL1_chr19_39291407_39303673	39302569	A A	ATATATAT others(29): Show ATATATATATATGTGTGTATATATATATGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG03540.hp2 HG02818.hp1 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0013 a0002c0002t0001g0013	2	302	0.0066	36	c.40 others(47): Show c.4053_*4054insTATATATATATGTGTGTATATATATATGTGTGTG TG	IFNL1	ENSG00000182393.3	transcript	ENST00000333625.3	protein_coding		3897		chr19	TogoVar
IFNL2_chr19_39263396_39275188	39267983	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02109.hp1 HG02559.hp1 HG01109.hp1 HG02109.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0001 a0001c0001t0001g0007	3	422	0.0071	36	c.-58 others(45): Show c.-586_-585insATATATATATATATATATATATATATATATATATAT	IFNL2	ENSG00000183709.8	transcript	ENST00000331982.6	protein_coding		412		chr19	TogoVar
IFNLR1_chr1_24149168_24192289	24189194	T T	TTTCTTTC others(29): Show TTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0088 a0001c0001t0005g0088	1	396	0.0025	36	c.-19 others(47): Show c.-1947_-1946insGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAAG AA	IFNLR1	ENSG00000185436.12	transcript	ENST00000327535.6	protein_coding		1906		chr1	TogoVar
IFNLR1_chr1_24149168_24192289	24189194	T T	TTTCTTTC others(29): Show TTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0006 a0002c0004t0006	a0002c0004t0006g0108 a0002c0004t0006g0108	1	396	0.0025	36	c.-19 others(47): Show c.-1947_-1946insGGAAGGAAGGAAGGAAGGAAAGAAAGAAAGAAAG AA	IFNLR1	ENSG00000185436.12	transcript	ENST00000327535.6	protein_coding		1906		chr1	TogoVar
IFT43_chr14_75980763_76088742	75999231	A A	ATATATAT others(29): Show ATATATATATAATATTCATTTATATATAAATTCATTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	396	0.0025	36	c.147 others(55): Show c.147+10264_147+10265insATATTCATTTATATATAAATTCATTT TATATATATA	IFT43	ENSG00000119650.13	transcript	ENST00000314067.11	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr14	TogoVar
IFT74_chr9_26951412_27071134	27040544	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0033 a0001c0001t0010g0033	1	342	0.0029	36	c.105 others(55): Show c.1055-4175_1055-4174insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	IFT74	ENSG00000096872.17	transcript	ENST00000380062.10	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr9	TogoVar
IFTAP_chr11_36589502_36664272	36661259	C C	CATACATA others(29): Show CATACATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG03540.hp2 NA20300.hp1 HG02723.hp1 HG03540.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0258 a0001c0001t0001g0044 a0001c0001t0001g0258	3	358	0.0084	36	c.20 others(47): Show c.2073_*2074insATACATATATATATATATATATATATATATATAT AT	IFTAP	ENSG00000166352.18	transcript	ENST00000334307.10	protein_coding		1988		chr11	TogoVar
IFTAP_chr11_36589502_36664272	36661259	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01071.hp1 HG01074.hp1 others(14): Show HG00642.hp2 HG01071.hp1 HG01074.hp1 HG01168.hp2 HG01169.hp1 HG01515.hp1 HG01517.hp1 HG01934.hp2 HG02300.hp2 HG02735.hp1 HG03130.hp1 HG03942.hp1 HG04228.hp2 NA18953.hp1 NA18957.hp2 NA18979.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(12): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0073 a0001c0001t0001g0079 a0001c0001t0001g0084 a0001c0001t0001g0091 a0001c0001t0001g0147 a0001c0001t0001g0162 a0001c0001t0001g0177 a0001c0001t0001g0203	17	358	0.0475	36	c.20 others(47): Show c.2073_*2074insATATATATATATATATATATATATATATATATAT AT	IFTAP	ENSG00000166352.18	transcript	ENST00000334307.10	protein_coding		1988		chr11	TogoVar
IFTAP_chr11_36589502_36664272	36661270	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0217 a0001c0001t0002g0217	1	358	0.0028	36	c.20 others(47): Show c.2084_*2085insTATATATATATATATATATATATATATATATATA TG	IFTAP	ENSG00000166352.18	transcript	ENST00000334307.10	protein_coding		1999		chr11	TogoVar
IGF1_chr12_102390874_102485563	102415543	T T	TTTCCTTC others(29): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCGTCCTTCC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0031 a0001c0001t0012g0031	1	360	0.0028	36	c.402 others(53): Show c.402+3965_402+3966insGGAAGGACGGAAGGAAGGAAGGAAGGAA GGAAGGAA	IGF1	ENSG00000017427.17	transcript	ENST00000337514.11	protein_coding	3/3			chr12	TogoVar
IGF1_chr12_102390874_102485563	102415543	T T	TTTCCTTC others(29): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCGTCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01192.hp1 HG01192.hp2 others(33): Show HG00099.hp1 HG01192.hp1 HG01192.hp2 HG01256.hp1 HG01258.hp1 HG01361.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG02071.hp2 HG02074.hp2 HG02559.hp2 HG02602.hp2 HG02622.hp1 HG02717.hp2 HG02896.hp2 HG02897.hp1 HG03098.hp1 HG03225.hp2 HG03239.hp1 HG03490.hp1 HG03492.hp1 HG03669.hp2 HG06807.hp2 NA18947.hp2 NA18957.hp2 NA18970.hp1 NA18980.hp2 NA18999.hp2 NA19009.hp1 NA19009.hp2 NA19056.hp2 NA19075.hp2 NA19079.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0023 a0001c0001t0024 a0001c0001t0028 a0001c0001t0046 a0001c0001t0067 a0001c0001t0075 a0001c0001t0080 a0001c0001t0081 a0001c0001t0092	a0001c0001t0001g0109 a0001c0001t0002g0002 a0001c0001t0002g0017 others(32): Show a0001c0001t0001g0109 a0001c0001t0002g0002 a0001c0001t0002g0017 a0001c0001t0002g0026 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0075 a0001c0001t0002g0102 a0001c0001t0002g0144 a0001c0001t0002g0160 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0171 a0001c0001t0002g0177 a0001c0001t0002g0180 a0001c0001t0002g0195 a0001c0001t0002g0203 a0001c0001t0012g0054 a0001c0001t0012g0100 a0001c0001t0013g0014 a0001c0001t0013g0037 a0001c0001t0013g0165 a0001c0001t0015g0148 a0001c0001t0016g0184 a0001c0001t0023g0043 a0001c0001t0024g0093 a0001c0001t0024g0103 a0001c0001t0028g0107 a0001c0001t0028g0179 a0001c0001t0046g0149 a0001c0001t0067g0042 a0001c0001t0075g0143 a0001c0001t0080g0275 a0001c0001t0081g0105 a0001c0001t0092g0156	36	360	0.1000	36	c.402 others(53): Show c.402+3965_402+3966insGGACGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAA	IGF1	ENSG00000017427.17	transcript	ENST00000337514.11	protein_coding	3/3			chr12	TogoVar
IGF1_chr12_102390874_102485563	102415544	T T	TTCCTTCC others(29): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03486.hp1 HG03540.hp1 HG02896.hp1 HG03486.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0012 a0001c0001t0019g0015 a0001c0001t0019g0016 a0001c0001t0019g0012 a0001c0001t0019g0015 a0001c0001t0019g0016	3	360	0.0083	36	c.402 others(53): Show c.402+3964_402+3965insCGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGA	IGF1	ENSG00000017427.17	transcript	ENST00000337514.11	protein_coding	3/3			chr12	TogoVar
IGF1_chr12_102390874_102485563	102415548	T T	TTCCTTCC others(29): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0063 a0002c0003t0063	a0002c0003t0063g0081 a0002c0003t0063g0081	1	360	0.0028	36	c.402 others(53): Show c.402+3960_402+3961insCGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGA	IGF1	ENSG00000017427.17	transcript	ENST00000337514.11	protein_coding	3/3			chr12	TogoVar
IGF1_chr12_102390874_102485563	102428236	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp2 HG01496.hp2 others(22): Show HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG02015.hp1 HG02080.hp1 HG02132.hp1 HG02155.hp2 HG03041.hp2 HG03225.hp2 HG03490.hp1 HG03490.hp2 HG03831.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18947.hp2 NA18967.hp2 NA19088.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0011 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0037 a0001c0001t0039 a0001c0001t0041 a0001c0001t0071 a0001c0001t0080	a0001c0001t0001g0013 a0001c0001t0001g0063 a0001c0001t0001g0068 others(22): Show a0001c0001t0001g0013 a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0001g0095 a0001c0001t0001g0122 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0230 a0001c0001t0002g0040 a0001c0001t0002g0051 a0001c0001t0002g0075 a0001c0001t0002g0175 a0001c0001t0002g0180 a0001c0001t0002g0195 a0001c0001t0006g0267 a0001c0001t0011g0005 a0001c0001t0011g0348 a0001c0001t0021g0345 a0001c0001t0022g0025 a0001c0001t0024g0103 a0001c0001t0037g0159 a0001c0001t0039g0133 a0001c0001t0041g0336 a0001c0001t0071g0104 a0001c0001t0080g0275	25	360	0.0694	36	c.221 others(53): Show c.221-8547_221-8546insTATATATATATATATATATATATATATA TATATATA	IGF1	ENSG00000017427.17	transcript	ENST00000337514.11	protein_coding	2/3			chr12	TogoVar
IGF1_chr12_102390874_102485563	102428236	G G	GTATGTAT others(29): Show GTATGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0089 a0001c0001t0089	a0001c0001t0089g0255 a0001c0001t0089g0255	1	360	0.0028	36	c.221 others(53): Show c.221-8547_221-8546insTATATATATATATATATATATATATATA TATACATA	IGF1	ENSG00000017427.17	transcript	ENST00000337514.11	protein_coding	2/3			chr12	TogoVar
IGF1_chr12_102390874_102485563	102441906	G G	GCTGCTGC others(29): Show GCTGCTGCTGCTGCTTCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 NA19043.hp2 HG00099.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0081 a0001c0001t0078 a0001c0001t0081	a0001c0001t0078g0157 a0001c0001t0081g0105 a0001c0001t0078g0157 a0001c0001t0081g0105	2	360	0.0056	36	c.221 others(55): Show c.221-22217_221-22216insAAGAAGAAGAAGAAGAAGAAGAAGCA GCAGCAGCAG	IGF1	ENSG00000017427.17	transcript	ENST00000337514.11	protein_coding	2/3			chr12	TogoVar
IGF1_chr12_102390874_102485563	102441906	G G	GCTGCTGC others(29): Show GCTGCTGCTGCTTCTTCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01433.hp2 HG01891.hp2 others(6): Show HG01243.hp2 HG01433.hp2 HG01891.hp2 HG02071.hp2 HG02602.hp1 HG02922.hp2 NA18999.hp2 NA19055.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0052 a0001c0001t0001 a0001c0001t0002 a0001c0001t0052	a0001c0001t0001g0117 a0001c0001t0001g0126 a0001c0001t0001g0139 others(6): Show a0001c0001t0001g0117 a0001c0001t0001g0126 a0001c0001t0001g0139 a0001c0001t0001g0277 a0001c0001t0001g0286 a0001c0001t0002g0160 a0001c0001t0002g0162 a0001c0001t0002g0166 a0001c0001t0052g0132	9	360	0.0250	36	c.221 others(55): Show c.221-22217_221-22216insAAGAAGAAGAAGAAGAAGAAGAAGAA GCAGCAGCAG	IGF1	ENSG00000017427.17	transcript	ENST00000337514.11	protein_coding	2/3			chr12	TogoVar
IGF1_chr12_102390874_102485563	102441906	G G	GCTGCTGC others(29): Show GCTGCTGCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	360	0.0028	36	c.221 others(55): Show c.221-22217_221-22216insAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGCAGCAG	IGF1	ENSG00000017427.17	transcript	ENST00000337514.11	protein_coding	2/3			chr12	TogoVar
IGF1_chr12_102390874_102485563	102441906	G G	GCTTCTTC others(29): Show GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02040.hp2 HG03516.hp2 others(5): Show HG01952.hp1 HG02040.hp2 HG03516.hp2 NA18955.hp2 NA18961.hp2 NA18979.hp2 NA19000.hp2 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0018 a0001c0001t0083	a0001c0001t0002g0280 a0001c0001t0004g0301 a0001c0001t0004g0333 others(5): Show a0001c0001t0002g0280 a0001c0001t0004g0301 a0001c0001t0004g0333 a0001c0001t0004g0352 a0001c0001t0008g0234 a0001c0001t0009g0310 a0001c0001t0018g0339 a0001c0001t0083g0296	8	360	0.0222	36	c.221 others(55): Show c.221-22217_221-22216insAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAG	IGF1	ENSG00000017427.17	transcript	ENST00000337514.11	protein_coding	2/3			chr12	TogoVar
IGF2BP2_chr3_185638130_185830042	185677044	G G	GATATATA others(29): Show GATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0170 a0001c0001t0002g0170	1	216	0.0046	36	c.813 others(53): Show c.813-1132_813-1131insATATATATATATATATATATATATATAT ATATATAT	IGF2BP2	ENSG00000073792.16	transcript	ENST00000382199.7	protein_coding	7/15			chr3	TogoVar
IGF2BP2_chr3_185638130_185830042	185677068	T T	TATATATA others(29): Show TATATATATATATATATAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0020 a0002c0003t0001g0020	1	216	0.0046	36	c.813 others(53): Show c.813-1156_813-1155insCTCTCTCTCTCTCTCTCTCTATATATAT ATATATAT	IGF2BP2	ENSG00000073792.16	transcript	ENST00000382199.7	protein_coding	7/15			chr3	TogoVar
IGF2R_chr6_159964082_160116504	160000728	G G	GTTTTTTT others(29): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0046 a0001c0004t0046	a0001c0004t0046g0273 a0001c0004t0046g0273	1	310	0.0032	36	c.290 others(53): Show c.290-8257_290-8256insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	IGF2R	ENSG00000197081.16	transcript	ENST00000356956.6	protein_coding	2/47		INFO_REALIGN_3_PRIME	chr6	TogoVar
IGF2R_chr6_159964082_160116504	160012745	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0206 a0002c0003t0001g0206	1	310	0.0032	36	c.513 others(53): Show c.513+1979_513+1980insATATATATATATATATATATATATATAT ATATATAT	IGF2R	ENSG00000197081.16	transcript	ENST00000356956.6	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr6	TogoVar
IGF2R_chr6_159964082_160116504	160012745	T T	TTATATTT others(29): Show TTATATTTTTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0210 a0001c0004t0003g0210	1	310	0.0032	36	c.513 others(53): Show c.513+1965_513+1966insTTTTATATATATATATATATATATATAT ATATATAT	IGF2R	ENSG00000197081.16	transcript	ENST00000356956.6	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr6	TogoVar
IGF2_chr11_2124117_2144389	2127041	G G	GGTTGGGT others(29): Show GGTTGGGTGGTGGGATGGTGTGGGTGGGGGTGTGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0108 a0001c0001t0108	a0001c0001t0108g0119 a0001c0001t0108g0119	1	388	0.0026	36	c.59 others(47): Show c.5945_*5946insACCCACACCCCCACCCACACCATCCCACCACCCA AC	IGF2	ENSG00000167244.22	transcript	ENST00000416167.7	protein_coding		2075		chr11	TogoVar
IGF2_chr11_2124117_2144389	2127298	G G	GGGATGGG others(29): Show GGGATGGGTGGAGGGATGGGTGGAGGGATAGGTGGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0152 a0001c0001t0152	a0001c0001t0152g0177 a0001c0001t0152g0177	1	388	0.0026	36	c.56 others(47): Show c.5688_*5689insATCCACCTATCCCTCCACCCATCCCTCCACCCAT CC	IGF2	ENSG00000167244.22	transcript	ENST00000416167.7	protein_coding		1818		chr11	TogoVar
IGF2_chr11_2124117_2144389	2132039	C C	CTCGTGTG others(29): Show CTCGTGTGTGTGCTGTGTGTTTGTGTGTGTGCTGTAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02280.hp1 HG02622.hp1 HG02896.hp1 others(6): Show HG02280.hp1 HG02622.hp1 HG02896.hp1 HG02897.hp1 HG03225.hp1 NA18906.hp2 NA19043.hp1 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0068 a0001c0001t0120 others(1): Show a0001c0001t0007 a0001c0001t0068 a0001c0001t0120 a0001c0001t0158	a0001c0001t0007g0017 a0001c0001t0007g0208 a0001c0001t0007g0225 others(4): Show a0001c0001t0007g0017 a0001c0001t0007g0208 a0001c0001t0007g0225 a0001c0001t0007g0226 a0001c0001t0068g0057 a0001c0001t0120g0128 a0001c0001t0158g0132	9	388	0.0232	36	c.94 others(45): Show c.947_*948insATACAGCACACACACAAACACACAGCACACACACGA	IGF2	ENSG00000167244.22	transcript	ENST00000416167.7	protein_coding	4/4	947		chr11	TogoVar
IGFL4_chr19_46034182_46046002	46034734	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	454	0.0022	36	c.51 others(47): Show c.5157_*5158insATATATATATATATATATATATATATATATATAT AT	IGFL4	ENSG00000204869.9	transcript	ENST00000377697.2	protein_coding		4447		chr19	TogoVar
IGSF21_chr1_18102798_18383483	18208376	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18747.hp1 homoSapiens_chm13v2.hp1 NA18747.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0087 a0001c0001t0001g0042 a0001c0001t0001g0087	2	248	0.0081	36	c.71- others(53): Show c.71-19502_71-19501insATATATATATATATATATATATATATAT ATATATAT	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(29): Show TCTCTCTCTCTCTCTCTCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0163 a0001c0001t0003g0163	1	248	0.0040	36	c.71- others(51): Show c.71-2812_71-2811insTCTCTCTCTCTCTCTCACACACACACACAC ACACAC	IGSF21	ENSG00000117154.12	transcript	ENST00000251296.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
IGSF21_chr1_18102798_18383483	18273462	C C	CTCTTTCT others(29): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0037 a0001c0011t0001g0037	1	248	0.0040	36	c.184 others(55): Show c.184-18381_184-18346dupTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTC	IGSF21	ENSG00000117154.12	transcript	ENST00000251296.4	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
IGSF21_chr1_18102798_18383483	18357435	A A	AGGGATGA others(29): Show AGGGATGAGGTGGGGATGGGGATGGGAATGGAGATGG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02886.hp1 HG02922.hp2 others(2): Show HG02647.hp2 HG02886.hp1 HG02922.hp2 HG03453.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0001t0001 a0001c0001t0003 a0001c0001t0012	a0001c0001t0001g0033 a0001c0001t0003g0151 a0001c0001t0003g0214 others(2): Show a0001c0001t0001g0033 a0001c0001t0003g0151 a0001c0001t0003g0214 a0001c0001t0003g0223 a0001c0001t0012g0137	5	248	0.0202	36	c.425 others(53): Show c.425-4667_425-4666insGATGGGGATGGGAATGGAGATGGGGGAT GAGGTGGG	IGSF21	ENSG00000117154.12	transcript	ENST00000251296.4	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
IGSF21_chr1_18102798_18383483	18372834	A A	ATGGATGG others(29): Show ATGGATGGATGGATGGATGGATGGATGGATGGATGGG	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	248	0.0040	36	c.101 others(55): Show c.1016-3445_1016-3444insATGGGTGGATGGATGGATGGATGGAT GGATGGATGG	IGSF21	ENSG00000117154.12	transcript	ENST00000251296.4	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr1	TogoVar

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