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
IL31RA_chr5_55846357_55927850	55897000	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA19079.hp2 HG06807.hp1 NA19079.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0082 a0003c0004t0008 a0002c0002t0082 a0003c0004t0008	a0002c0002t0082g0058 a0003c0004t0008g0319 a0002c0002t0082g0058 a0003c0004t0008g0319	2	322	0.0062	35	c.852 others(50): Show c.852+572_852+573insAAAAAAAAAAAAAAATATATATATATATAT ATATA		IL31RA	ENSG00000164509.16	transcript	ENST00000652347.2	protein_coding	7/14					INFO_REALIGN_3_PRIME	chr5	TogoVar
IL31RA_chr5_55846357_55927850	55897000	A A	AAAAATAT others(28): Show AAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01109.hp2 HG01516.hp1 HG01074.hp1 HG01109.hp2 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0028 a0001c0001t0003 a0001c0003t0028	a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0003t0028g0008 a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0003t0028g0008	3	322	0.0093	35	c.852 others(50): Show c.852+572_852+573insAAATATATATATATATATATATATATATAT ATATA		IL31RA	ENSG00000164509.16	transcript	ENST00000652347.2	protein_coding	7/14					INFO_REALIGN_3_PRIME	chr5	TogoVar
IL31RA_chr5_55846357_55927850	55897000	A A	AAATATAT others(28): Show AAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0246 a0001c0001t0014g0246	1	322	0.0031	35	c.852 others(50): Show c.852+572_852+573insATATATATATATATATATATATATATATAT ATATA		IL31RA	ENSG00000164509.16	transcript	ENST00000652347.2	protein_coding	7/14					INFO_REALIGN_3_PRIME	chr5	TogoVar
IL31RA_chr5_55846357_55927850	55897015	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0044 a0002c0002t0044	a0002c0002t0044g0160 a0002c0002t0044g0160	1	322	0.0031	35	c.852 others(50): Show c.852+587_852+588insATATATATATATATATATATATATATATTT TTTTT		IL31RA	ENSG00000164509.16	transcript	ENST00000652347.2	protein_coding	7/14					INFO_REALIGN_3_PRIME	chr5	TogoVar
IL31RA_chr5_55846357_55927850	55897015	A A	ATATATAT others(28): Show ATATATATATATATATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0272 a0001c0001t0017g0272	1	322	0.0031	35	c.852 others(50): Show c.852+587_852+588insATATATATATATATTTTTTTTTTTTTTTTT TTTTT		IL31RA	ENSG00000164509.16	transcript	ENST00000652347.2	protein_coding	7/14					INFO_REALIGN_3_PRIME	chr5	TogoVar
IL31RA_chr5_55846357_55927850	55898555	G G	GTTAATAT others(28): Show GTTAATATGTTTTTTAAAAAGATTTTAAATAACATA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02630.hp2 HG02809.hp1 others(2): Show HG01167.hp1 HG02630.hp2 HG02809.hp1 HG02922.hp2 NA19240.hp1	a0001 a0012 a0001 a0012	a0001c0003 a0012c0015 a0001c0003 a0012c0015	a0001c0003t0026 a0001c0003t0038 a0012c0015t0026 a0001c0003t0026 a0001c0003t0038 a0012c0015t0026	a0001c0003t0026g0280 a0001c0003t0026g0281 a0001c0003t0038g0298 others(2): Show a0001c0003t0026g0280 a0001c0003t0026g0281 a0001c0003t0038g0298 a0001c0003t0038g0299 a0012c0015t0026g0282	5	322	0.0155	35	c.853 others(52): Show c.853-1351_853-1350insTTTTAAAAAGATTTTAAATAACATATTA ATATGTT		IL31RA	ENSG00000164509.16	transcript	ENST00000652347.2	protein_coding	7/14					INFO_REALIGN_3_PRIME	chr5	TogoVar
IL31RA_chr5_55846357_55927850	55898602	A A	ATTTTAAA others(28): Show ATTTTAAAAAGATTTTAAATAACATATTAATATGTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00423.hp1 others(106): Show HG00140.hp1 HG00280.hp2 HG00423.hp1 HG00621.hp2 HG00642.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01106.hp2 HG01109.hp1 HG01192.hp2 HG01243.hp2 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG01952.hp2 HG01981.hp1 HG01993.hp1 HG02071.hp1 HG02083.hp2 HG02109.hp1 HG02148.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02886.hp1 HG02895.hp1 HG02922.hp1 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03710.hp2 HG03831.hp2 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18944.hp1 NA18945.hp1 NA18947.hp1 NA18949.hp1 NA18950.hp1 NA18953.hp2 NA18956.hp1 NA18964.hp1 NA18966.hp1 NA18967.hp1 NA18971.hp1 NA18973.hp2 NA18977.hp2 NA18978.hp1 NA18979.hp2 NA18981.hp1 NA18984.hp1 NA18987.hp2 NA18989.hp2 NA18992.hp1 NA18994.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19003.hp1 NA19004.hp1 NA19005.hp2 NA19010.hp1 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19062.hp1 NA19065.hp1 NA19072.hp2 NA19076.hp2 NA19077.hp2 NA19079.hp2 NA19083.hp1 NA19089.hp2 NA19091.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0007 a0008 a0010	a0001c0003 a0001c0005 a0001c0009 others(8): Show a0001c0003 a0001c0005 a0001c0009 a0002c0002 a0002c0006 a0002c0014 a0003c0004 a0005c0012 a0007c0011 a0008c0019 a0010c0017	a0001c0003t0037 a0001c0003t0090 a0001c0005t0011 others(36): Show a0001c0003t0037 a0001c0003t0090 a0001c0005t0011 a0001c0005t0018 a0001c0005t0088 a0001c0005t0089 a0001c0005t0091 a0001c0009t0011 a0002c0002t0001 a0002c0002t0005 a0002c0002t0012 a0002c0002t0016 a0002c0002t0024 a0002c0002t0025 a0002c0002t0033 a0002c0002t0034 a0002c0002t0035 a0002c0002t0073 a0002c0002t0075 a0002c0002t0076 a0002c0002t0077 a0002c0002t0078 a0002c0002t0079 a0002c0002t0080 a0002c0002t0081 a0002c0002t0082 a0002c0002t0084 a0002c0002t0095 a0002c0006t0001 a0002c0006t0005 a0002c0006t0024 a0002c0006t0025 a0002c0014t0083 a0003c0004t0017 a0005c0012t0045 a0007c0011t0001 a0007c0011t0005 a0008c0019t0001 a0010c0017t0035	a0001c0003t0037g0145 a0001c0003t0090g0278 a0001c0005t0011g0120 others(106): Show a0001c0003t0037g0145 a0001c0003t0090g0278 a0001c0005t0011g0120 a0001c0005t0018g0142 a0001c0005t0018g0143 a0001c0005t0088g0134 a0001c0005t0089g0040 a0001c0005t0091g0125 a0001c0009t0011g0264 a0001c0009t0011g0265 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0013 a0002c0002t0001g0026 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0037 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0060 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0077 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0100 a0002c0002t0001g0117 a0002c0002t0001g0133 a0002c0002t0001g0136 a0002c0002t0001g0141 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0005g0014 a0002c0002t0005g0020 a0002c0002t0005g0029 a0002c0002t0005g0030 a0002c0002t0005g0059 a0002c0002t0005g0063 a0002c0002t0005g0067 a0002c0002t0005g0076 a0002c0002t0005g0091 a0002c0002t0005g0095 a0002c0002t0005g0096 a0002c0002t0005g0103 a0002c0002t0012g0097 a0002c0002t0012g0098 a0002c0002t0012g0099 a0002c0002t0012g0101 a0002c0002t0012g0102 a0002c0002t0012g0116 a0002c0002t0016g0041 a0002c0002t0016g0061 a0002c0002t0016g0062 a0002c0002t0016g0124 a0002c0002t0016g0135 a0002c0002t0024g0022 a0002c0002t0024g0073 a0002c0002t0025g0023 a0002c0002t0025g0072 a0002c0002t0033g0122 a0002c0002t0033g0123 a0002c0002t0034g0042 a0002c0002t0034g0048 a0002c0002t0035g0038 a0002c0002t0073g0121 a0002c0002t0075g0031 a0002c0002t0076g0088 a0002c0002t0077g0075 a0002c0002t0078g0071 a0002c0002t0079g0093 a0002c0002t0080g0092 a0002c0002t0081g0051 a0002c0002t0082g0058 a0002c0002t0084g0015 a0002c0002t0095g0085 a0002c0006t0001g0189 a0002c0006t0001g0221 a0002c0006t0001g0229 a0002c0006t0001g0270 a0002c0006t0005g0191 a0002c0006t0024g0232 a0002c0006t0025g0231 a0002c0014t0083g0119 a0003c0004t0017g0006 a0003c0004t0017g0302 a0003c0004t0017g0314 a0003c0004t0017g0315 a0005c0012t0045g0005 a0007c0011t0001g0080 a0007c0011t0005g0012 a0008c0019t0001g0054 a0010c0017t0035g0052	109	322	0.3385	35	c.853 others(52): Show c.853-1284_853-1283insATGTTTTTTAAAAAGATTTTAAATAACA TATTAAT		IL31RA	ENSG00000164509.16	transcript	ENST00000652347.2	protein_coding	7/14					INFO_REALIGN_3_PRIME	chr5	TogoVar
IL31RA_chr5_55846357_55927850	55898603	T T	TTTTAAAA others(28): Show TTTTAAAAAGATTTTAAATAACATATTAATATGTTA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG03195.hp2 HG01168.hp2 HG03195.hp2	a0001 a0001	a0001c0005 a0001c0009 a0001c0005 a0001c0009	a0001c0005t0018 a0001c0009t0011 a0001c0005t0018 a0001c0009t0011	a0001c0005t0018g0115 a0001c0009t0011g0250 a0001c0005t0018g0115 a0001c0009t0011g0250	2	322	0.0062	35	c.853 others(52): Show c.853-1284_853-1283insATGTTATTTAAAAAGATTTTAAATAACA TATTAAT		IL31RA	ENSG00000164509.16	transcript	ENST00000652347.2	protein_coding	7/14					INFO_REALIGN_3_PRIME	chr5	TogoVar
IL34_chr16_70641559_70665682	70660839	G G	GGCCCAGC others(28): Show GGCCCAGCCCAGCCCAGCCCAGCCCAGCCCAGCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0002 a0001c0001t0004g0002	1	438	0.0023	35	c.65 others(44): Show c.652_*653insGCCCAGCCCAGCCCAGCCCAGCCCAGCCCAGCCCA		IL34	ENSG00000157368.12	transcript	ENST00000288098.7	protein_coding					158		chr16	TogoVar
IL34_chr16_70641559_70665682	70660839	G G	GGCCCAGC others(28): Show GGCCCAGCCCGGCCCAGCCCAGCCCAGCCCAGCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 NA18950.hp2 NA19089.hp2 HG00558.hp1 NA18950.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0066 a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0066	3	438	0.0069	35	c.65 others(44): Show c.652_*653insGCCCAGCCCGGCCCAGCCCAGCCCAGCCCAGCCCA		IL34	ENSG00000157368.12	transcript	ENST00000288098.7	protein_coding					158		chr16	TogoVar
IL3RA_chrX_1331785_1387689	1353229	C C	CCATCATG others(28): Show CCATCATGGGGTTCCACCATGAGTCATGGGATCCCT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0004 a0006c0011t0004	a0006c0011t0004g0059 a0006c0011t0004g0059	1	115	0.0087	35	c.616 others(50): Show c.616+732_616+733insGTTCCACCATGAGTCATGGGATCCCTCATC ATGGG		IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	6/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1353229	C C	CCCATCAT others(28): Show CCCATCATGGGTTCCACCATGAGTCATGGGATCCCT	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA19058.hp1 HG02145.hp2 NA19058.hp1	a0001 a0015 a0001 a0015	a0001c0001 a0015c0017 a0001c0001 a0015c0017	a0001c0001t0001 a0015c0017t0001 a0001c0001t0001 a0015c0017t0001	a0001c0001t0001g0111 a0015c0017t0001g0004 a0001c0001t0001g0111 a0015c0017t0001g0004	2	115	0.0174	35	c.616 others(50): Show c.616+724_616+725insCATCATGGGTTCCACCATGAGTCATGGGAT CCCTC		IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	6/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1353263	T T	TCATCATG others(28): Show TCATCATGGGTTCCACCATGAGGTCATGGGATCCCC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0096 a0001c0001t0015g0096	1	115	0.0087	35	c.616 others(50): Show c.616+757_616+758insCATCATGGGTTCCACCATGAGGTCATGGGA TCCCC		IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	6/11						chrX	TogoVar
IL3RA_chrX_1331785_1387689	1366461	G G	GGGTGAGC others(28): Show GGGTGAGCGGGGTGAGCGGGGTGAGCCGGGTGCCCC	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	115	0.0087	35	c.874 others(52): Show c.874+1211_874+1212insTGAGCGGGGTGAGCGGGGTGAGCCGGGT GCCCCGG		IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
IL6_chr7_22722200_22736998	22732256	A A	ATATATAT others(28): Show ATATATATAGTATATATACTATATATACTATGTATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19084.hp2 NA19030.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0033 a0001c0001t0001g0037	2	418	0.0048	35	c.68 others(44): Show c.683_*684insTATATATAGTATATATACTATATATACTATGTATG		IL6	ENSG00000136244.12	transcript	ENST00000258743.10	protein_coding					259		chr7	TogoVar
IL6_chr7_22722200_22736998	22732256	A A	ATATATAT others(28): Show ATATATATAGTATATATAGTATATATACTATGTATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00408.hp2 others(277): Show HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01346.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA19003.hp1 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0003c0004 others(1): Show a0001c0001 a0001c0002 a0003c0004 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0003c0004t0001 a0005c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(23): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0002g0001 a0001c0002t0001g0005 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0019 a0001c0002t0001g0031 a0001c0002t0001g0034 a0003c0004t0001g0006 a0005c0006t0001g0001	280	418	0.6699	35	c.68 others(44): Show c.683_*684insTATATATAGTATATATAGTATATATACTATGTATG		IL6	ENSG00000136244.12	transcript	ENST00000258743.10	protein_coding					259		chr7	TogoVar
IMPG1_chr6_75916114_76077662	75974393	T T	TTCTTTCC others(28): Show TTCTTTCCTTCCTTCCTTCCTTGCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0001 a0001c0026t0001	a0001c0026t0001g0241 a0001c0026t0001g0241	1	302	0.0033	35	c.129 others(56): Show c.1292-23300_1292-23299insGGAAGGAAGGAAGCAAGGAAGGAA GGAAGGAAAGA		IMPG1	ENSG00000112706.12	transcript	ENST00000369950.8	protein_coding	12/16						chr6	TogoVar
INF2_chr14_104684618_104727535	104695580	A A	ACACCCCT others(28): Show ACACCCCTCCTCCCAGTGACCCCTCCTCCCAGTGAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00438.hp1 others(31): Show HG00099.hp1 HG00280.hp2 HG00438.hp1 HG00558.hp2 HG00673.hp2 HG00738.hp1 HG01109.hp2 HG01256.hp2 HG01928.hp2 HG01934.hp2 HG01952.hp2 HG01978.hp1 HG02083.hp2 HG02273.hp1 HG02300.hp2 HG02523.hp1 HG03491.hp1 HG03492.hp2 HG03669.hp1 HG03669.hp2 HG04115.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp2 NA18949.hp2 NA18955.hp2 NA18967.hp2 NA18970.hp1 NA18981.hp1 NA18985.hp1 NA19000.hp2 NA19060.hp1 NA19065.hp1 NA20300.hp1	a0001 a0002 a0014 others(3): Show a0001 a0002 a0014 a0015 a0018 a0020	a0001c0001 a0002c0003 a0014c0028 others(3): Show a0001c0001 a0002c0003 a0014c0028 a0015c0048 a0018c0034 a0020c0030	a0001c0001t0001 a0001c0001t0020 a0002c0003t0006 others(11): Show a0001c0001t0001 a0001c0001t0020 a0002c0003t0006 a0002c0003t0009 a0002c0003t0010 a0002c0003t0031 a0002c0003t0039 a0002c0003t0048 a0002c0003t0052 a0002c0003t0071 a0014c0028t0051 a0015c0048t0050 a0018c0034t0001 a0020c0030t0078	a0001c0001t0001g0005 a0001c0001t0001g0055 a0001c0001t0001g0056 others(21): Show a0001c0001t0001g0005 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0020g0230 a0001c0001t0020g0235 a0002c0003t0006g0007 a0002c0003t0006g0051 a0002c0003t0006g0232 a0002c0003t0006g0233 a0002c0003t0006g0236 a0002c0003t0006g0237 a0002c0003t0009g0057 a0002c0003t0010g0007 a0002c0003t0010g0012 a0002c0003t0031g0007 a0002c0003t0031g0234 a0002c0003t0039g0030 a0002c0003t0048g0007 a0002c0003t0052g0241 a0002c0003t0071g0012 a0014c0028t0051g0231 a0015c0048t0050g0244 a0018c0034t0001g0058 a0020c0030t0078g0005	34	380	0.0895	35	c.-9- others(50): Show c.-9-5776_-9-5775insACCCCTCCTCCCAGTGACCCCTCCTCCCAG TGACC		INF2	ENSG00000203485.14	transcript	ENST00000392634.9	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr14	TogoVar
INF2_chr14_104684618_104727535	104714664	C C	CCAGGTGG others(28): Show CCAGGTGGGGATGAGGACGAGGACGAGGAGGACACG	frameshift_variant frameshift_variant	HIGH	HG00558.hp2 HG00558.hp2	a0020 a0020	a0020c0030 a0020c0030	a0020c0030t0078 a0020c0030t0078	a0020c0030t0078g0005 a0020c0030t0078g0005	1	380	0.0026	35	c.350 others(44): Show c.3503_3537dupCAGGTGGGGATGAGGACGAGGACGAGGAGGACACG	p.Ala others(6): Show p.Ala1180fs	INF2	ENSG00000203485.14	transcript	ENST00000392634.9	protein_coding	21/23	3669/7623	3538/3750	1180/1249		INFO_REALIGN_3_PRIME	chr14	TogoVar
INF2_chr14_104684618_104727535	104717335	G G	GCCCCCCC others(28): Show GCCCCCCCGGGCAGGGTGCGCTGCCGTCCTCCCAGT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02622.hp1 HG03579.hp1 HG02572.hp1 HG02622.hp1 HG03579.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0016 a0002c0013t0016	a0002c0013t0016g0042 a0002c0013t0016g0184 a0002c0013t0016g0042 a0002c0013t0016g0184	3	380	0.0079	35	c.2- others(50): Show c.2-1443_*2-1409dupGCGCTGCCGTCCTCCCAGTCCCCCCCGGGC AGGGT		INF2	ENSG00000203485.14	transcript	ENST00000392634.9	protein_coding	22/22					INFO_REALIGN_3_PRIME	chr14	TogoVar
INF2_chr14_104684618_104727535	104720443	T T	TCTCGTGT others(28): Show TCTCGTGTGGATGCTGCTGTGCACGTCTGCGTCGTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18967.hp1 homoSapiens_chm13v2.hp1 NA18967.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0036 a0001c0001 a0001c0036	a0001c0001t0008 a0001c0036t0008 a0001c0001t0008 a0001c0036t0008	a0001c0001t0008g0166 a0001c0036t0008g0135 a0001c0001t0008g0166 a0001c0036t0008g0135	2	380	0.0053	35	c.16 others(46): Show c.1670_*1671insCACGTCTGCGTCGTCCTCGTGTGGATGCTGCTGT G		INF2	ENSG00000203485.14	transcript	ENST00000392634.9	protein_coding	23/23				5125	INFO_REALIGN_3_PRIME	chr14	TogoVar
INF2_chr14_104684618_104727535	104720443	T T	TCTCGTGT others(28): Show TCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18951.hp1 NA18982.hp2 NA19085.hp1 NA18951.hp1 NA18982.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0040 a0001c0009t0040 a0001c0009t0065 a0001c0001t0040 a0001c0009t0040 a0001c0009t0065	a0001c0001t0040g0176 a0001c0009t0040g0214 a0001c0009t0065g0060 a0001c0001t0040g0176 a0001c0009t0040g0214 a0001c0009t0065g0060	3	380	0.0079	35	c.16 others(46): Show c.1674_*1708dupGTCTGCGTCGTCCTCGTGTGGATGCTGCTGTGGA C		INF2	ENSG00000203485.14	transcript	ENST00000392634.9	protein_coding	23/23				5163	INFO_REALIGN_3_PRIME	chr14	TogoVar
INPP4B_chr4_142018160_142851301	142564451	A A	AAAGAAAG others(28): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0014 a0001c0002t0010g0014	1	90	0.0111	35	c.-19 others(58): Show c.-190-101726_-190-101725insCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTT		INPP4B	ENSG00000109452.13	transcript	ENST00000262992.9	protein_coding	2/25						chr4	TogoVar
INPP5A_chr10_132532787_132788480	132573777	C C	CGTGTGAG others(28): Show CGTGTGAGGTTTTGTTGATGTTGAGGTGTGTGTGCT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03098.hp2 HG02109.hp1 HG03098.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0185 a0001c0005t0001g0186 a0001c0005t0001g0185 a0001c0005t0001g0186	2	204	0.0098	35	c.76- others(52): Show c.76-34104_76-34103insTGTGTGAGGTTTTGTTGATGTTGAGGTG TGTGTGC		INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132573960	T T	TGAGGTTT others(28): Show TGAGGTTTTGTTGATGTTGAGGTGTGTGTGCCGTGG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02809.hp1 HG02965.hp2 others(2): Show HG02486.hp2 HG02809.hp1 HG02965.hp2 HG03130.hp1 HG03579.hp1	a0001 a0001	a0001c0005 a0001c0006 a0001c0007 a0001c0005 a0001c0006 a0001c0007	a0001c0005t0002 a0001c0006t0001 a0001c0006t0008 others(1): Show a0001c0005t0002 a0001c0006t0001 a0001c0006t0008 a0001c0007t0008	a0001c0005t0002g0039 a0001c0005t0002g0040 a0001c0006t0001g0188 others(2): Show a0001c0005t0002g0039 a0001c0005t0002g0040 a0001c0006t0001g0188 a0001c0006t0008g0187 a0001c0007t0008g0144	5	204	0.0245	35	c.76- others(52): Show c.76-33942_76-33941insTGTTGAGGTGTGTGTGCCGTGGGAGGTT TTGTTGA		INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132612442	A A	AAGGTGCC others(28): Show AAGGTGCCCTGTTTTGGGGGTTCGGGGAGGCTGTGC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02809.hp1 HG02965.hp2 others(2): Show HG02486.hp2 HG02809.hp1 HG02965.hp2 HG03130.hp1 HG03579.hp1	a0001 a0001	a0001c0005 a0001c0006 a0001c0007 a0001c0005 a0001c0006 a0001c0007	a0001c0005t0002 a0001c0006t0001 a0001c0006t0008 others(1): Show a0001c0005t0002 a0001c0006t0001 a0001c0006t0008 a0001c0007t0008	a0001c0005t0002g0039 a0001c0005t0002g0040 a0001c0006t0001g0188 others(2): Show a0001c0005t0002g0039 a0001c0005t0002g0040 a0001c0006t0001g0188 a0001c0006t0008g0187 a0001c0007t0008g0144	5	204	0.0245	35	c.117 others(52): Show c.117+4525_117+4559dupTGCCCTGTTTTGGGGGTTCGGGGAGGCT GTGCAGG		INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132766939	C C	CTCAGGGA others(28): Show CTCAGGGAGCTTGGGTGGGAGCCGGAGGATGCGGCT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02486.hp2 HG03098.hp2 others(3): Show HG02109.hp1 HG02486.hp2 HG03098.hp2 HG03130.hp1 NA18522.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0006 others(1): Show a0001c0001 a0001c0005 a0001c0006 a0001c0009	a0001c0001t0014 a0001c0005t0001 a0001c0006t0001 others(2): Show a0001c0001t0014 a0001c0005t0001 a0001c0006t0001 a0001c0006t0008 a0001c0009t0008	a0001c0001t0014g0078 a0001c0005t0001g0185 a0001c0005t0001g0186 others(3): Show a0001c0001t0014g0078 a0001c0005t0001g0185 a0001c0005t0001g0186 a0001c0006t0001g0188 a0001c0006t0008g0187 a0001c0009t0008g0087	6	204	0.0294	35	c.977 others(52): Show c.977+1113_977+1114insCCGGAGGATGCGGCTTCAGGGAGCTTGG GTGGGAG		INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132766939	C C	CTCAGGGA others(28): Show CTCAGGGAGCTTGGGTGTGAGCCGGAGGATGCGGCT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0018 a0001c0005t0018	a0001c0005t0018g0038 a0001c0005t0018g0038	1	204	0.0049	35	c.977 others(52): Show c.977+1109_977+1110insTGAGCCGGAGGATGCGGCTTCAGGGAGC TTGGGTG		INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5B_chr1_37855697_37952053	37941958	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0334 a0002c0002t0003g0334	1	346	0.0029	35	c.281 others(52): Show c.281-1161_281-1160insATATATATATATATATATATATTTTTTT TTTTTTT		INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	5/23						chr1	TogoVar
INPP5B_chr1_37855697_37952053	37941958	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02602.hp1 HG02071.hp1 HG02602.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0002 a0001c0005 a0002c0002	a0001c0005t0001 a0002c0002t0002 a0001c0005t0001 a0002c0002t0002	a0001c0005t0001g0289 a0002c0002t0002g0068 a0001c0005t0001g0289 a0002c0002t0002g0068	2	346	0.0058	35	c.281 others(52): Show c.281-1161_281-1160insATATATATATATATATATATATATTTTT TTTTTTT		INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	5/23						chr1	TogoVar
INPP5B_chr1_37855697_37952053	37941958	A A	AAAAAAAA others(28): Show AAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0047 a0001c0001t0011g0047	1	346	0.0029	35	c.281 others(52): Show c.281-1161_281-1160insATATATATATATATATATATATATATTT TTTTTTT		INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	5/23						chr1	TogoVar
INSR_chr19_7107265_7299414	7207940	G G	GGAAGGAA others(28): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02148.hp2 HG01081.hp1 HG02148.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0049 a0001c0002t0005 a0001c0002t0049	a0001c0002t0005g0231 a0001c0002t0049g0034 a0001c0002t0005g0231 a0001c0002t0049g0034	2	300	0.0067	35	c.653 others(54): Show c.653-23304_653-23303insTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTC		INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	2/21						chr19	TogoVar
INSYN1_chr15_73730458_73758351	73745810	A A	AAAAACAA others(28): Show AAAAACAAAACAAAACAAAACAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03486.hp1 NA18522.hp2 HG01891.hp2 HG03486.hp1 NA18522.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0077 a0001c0001t0099 a0003c0008t0019 a0001c0001t0077 a0001c0001t0099 a0003c0008t0019	a0001c0001t0077g0137 a0001c0001t0099g0210 a0003c0008t0019g0138 a0001c0001t0077g0137 a0001c0001t0099g0210 a0003c0008t0019g0138	3	406	0.0074	35	c.156 others(52): Show c.156+5164_156+5165insGTTTTGTTTTGTTTTGTTTTGTTTTGTT TTGTTTT		INSYN1	ENSG00000205363.7	transcript	ENST00000569673.3	protein_coding	2/2						chr15	TogoVar
INTS15_chr7_6585021_6613726	6613356	T T	TATATATA others(28): Show TATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp1 NA18965.hp2 NA18954.hp1 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0240 a0001c0001t0001g0164 a0001c0001t0001g0240	2	394	0.0051	35	c.51 others(46): Show c.5195_*5196insATATATATATATATATATATATATATATATATAT A		INTS15	ENSG00000146576.13	transcript	ENST00000344417.10	protein_coding					4631		chr7	TogoVar
INTS1_chr7_1465277_1509389	1484943	A A	ACCCCGTC others(28): Show ACCCCGTCCCCTCCCCAGGGCCACACTGCCGGCTGG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01070.hp2 HG01071.hp1 others(16): Show HG00733.hp2 HG01070.hp2 HG01071.hp1 HG01109.hp2 HG01243.hp2 HG01255.hp2 HG01978.hp2 HG02257.hp2 HG02572.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG03225.hp2 HG03486.hp2 HG03540.hp2 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0019 a0001 a0019	a0001c0001 a0001c0003 a0001c0026 others(5): Show a0001c0001 a0001c0003 a0001c0026 a0001c0027 a0001c0035 a0001c0037 a0001c0038 a0019c0017	a0001c0001t0001 a0001c0003t0001 a0001c0026t0002 others(5): Show a0001c0001t0001 a0001c0003t0001 a0001c0026t0002 a0001c0027t0002 a0001c0035t0001 a0001c0037t0001 a0001c0038t0001 a0019c0017t0001	a0001c0001t0001g0033 a0001c0001t0001g0152 a0001c0001t0001g0194 others(12): Show a0001c0001t0001g0033 a0001c0001t0001g0152 a0001c0001t0001g0194 a0001c0001t0001g0225 a0001c0003t0001g0029 a0001c0003t0001g0040 a0001c0003t0001g0042 a0001c0003t0001g0197 a0001c0003t0001g0199 a0001c0026t0002g0104 a0001c0027t0002g0103 a0001c0035t0001g0143 a0001c0037t0001g0198 a0001c0038t0001g0115 a0019c0017t0001g0114	19	316	0.0601	35	c.326 others(52): Show c.3261+120_3261+154dupCCAGCCGGCAGTGTGGCCCTGGGGAGGG GACGGGG		INTS1	ENSG00000164880.16	transcript	ENST00000404767.8	protein_coding	24/47						chr7	TogoVar
INTS1_chr7_1465277_1509389	1506596	T T	TCCTCCTC others(28): Show TCCTCCTCCCCCTCCCCCTCCCCTCCTTCCCCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	1	316	0.0032	35	c.-23 others(46): Show c.-2316_-2315insGGGAGGGGAAGGAGGGGAGGGGGAGGGGGAGGAG G		INTS1	ENSG00000164880.16	transcript	ENST00000404767.8	protein_coding					2208		chr7	TogoVar
INVS_chr9_100094243_100307175	100100957	A A	ATATATAT others(28): Show ATATATATAATATATATTATATATATAATATATATG	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0049 a0001c0001t0004g0049	1	182	0.0055	35	c.-25 others(52): Show c.-25+1558_-25+1592dupTATATATATAATATATATGTATATATAA TATATAT		INVS	ENSG00000119509.13	transcript	ENST00000262457.7	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr9	TogoVar
IP6K3_chr6_33716662_33751905	33723660	C C	CGAGCCGT others(28): Show CGAGCCGTAAGCTCATGAAGTGCCTCGTGAGGGTGA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0063 a0001c0003t0003g0063	1	366	0.0027	35	c.766 others(50): Show c.766-474_766-473insTCACCCTCACGAGGCACTTCATGAGCTTAC GGCTC		IP6K3	ENSG00000161896.12	transcript	ENST00000293756.5	protein_coding	5/5						chr6	TogoVar
IPO11_chr5_62407763_62633582	62470816	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 NA18998.hp1 HG01070.hp1 HG01071.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0133 a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0001t0001g0133 a0001c0003t0001g0075 a0001c0003t0001g0076	3	330	0.0091	35	c.708 others(50): Show c.708+537_708+538insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	7/29					INFO_REALIGN_3_PRIME	chr5	TogoVar
IPO11_chr5_62407763_62633582	62598527	T T	TTTCTTTC others(28): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0296 a0001c0001t0001g0296	1	330	0.0030	35	c.267 others(54): Show c.2679-3235_2679-3234insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTT		IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	28/29					INFO_REALIGN_3_PRIME	chr5	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0233 a0001c0001t0008g0233	1	314	0.0032	35	c.85- others(50): Show c.85-5948_85-5947insAAAAAAAAAAAAAAAAAAAAAAATATATAT ATATA		IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24					INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18994.hp1 NA18612.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0185 a0001c0001t0002g0186	2	314	0.0064	35	c.85- others(50): Show c.85-5948_85-5947insAAAAAAAAAAAAAAAAAAATATATATATAT ATATA		IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24					INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0310 a0001c0001t0002g0310	1	314	0.0032	35	c.85- others(50): Show c.85-5948_85-5947insAAAAAAAAAAAAATATATATATATATATAT ATATA		IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24					INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0253 a0001c0001t0002g0253	1	314	0.0032	35	c.85- others(50): Show c.85-5948_85-5947insAAAAAAAAAAATATATATATATATATATAT ATATA		IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24					INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAAAA others(28): Show AAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0096 a0001c0001t0010g0096	1	314	0.0032	35	c.85- others(50): Show c.85-5948_85-5947insAAAAAAAAATATATATATATATATATATAT ATATA		IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24					INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAAAT others(28): Show AAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0298 a0001c0001t0003g0298	1	314	0.0032	35	c.85- others(50): Show c.85-5948_85-5947insAAAAATATATATATATATATATATATATAT ATATA		IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24					INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9436868	A A	ATATATAT others(28): Show ATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	314	0.0032	35	c.226 others(52): Show c.2268+503_2268+504insATATATATATATATATATATTTTTTTTT TTTTTTT		IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	20/24					INFO_REALIGN_3_PRIME	chr11	TogoVar
IQANK1_chr8_143729139_143795645	143747910	G G	GTCCTTTC others(28): Show GTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0013 a0013	a0013c0013 a0013c0013	a0013c0013t0001 a0013c0013t0001	a0013c0013t0001g0008 a0013c0013t0001g0008	1	349	0.0029	35	c.175 others(52): Show c.175+7991_175+8025dupTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCC		IQANK1	ENSG00000203499.12	transcript	ENST00000527139.7	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr8	TogoVar
IQANK1_chr8_143729139_143795645	143747966	T T	TCCTTTCC others(28): Show TCCTTTCCTTTCCCTTTCCCTTTCCCTTTCCCTTTC	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA19043.hp2 HG01884.hp2 NA19043.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0011 a0003c0003t0001g0028 a0003c0003t0001g0011 a0003c0003t0001g0028	2	349	0.0057	35	c.175 others(52): Show c.175+8025_175+8026insTTTCCCTTTCCCTTTCCCTTTCCCTTTC CCTTTCC		IQANK1	ENSG00000203499.12	transcript	ENST00000527139.7	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr8	TogoVar
IQCA1_chr2_236319151_236512476	236357320	A A	AGTATATA others(28): Show AGTATATATTCATATATTATATATATATTTATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0065 a0002c0002t0009g0065	1	208	0.0048	35	c.186 others(54): Show c.1869+6459_1869+6460insATATATAAATATATATATAATATATG AATATATAC		IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	15/18						chr2	TogoVar

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