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
INPP5B_chr1_37855697_37952053	37941958	A A	AAAAAAAA others(17): Show AAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03453.hp1 HG02965.hp1 HG03453.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0017 a0001c0001 a0011c0017	a0001c0001t0001 a0011c0017t0001 a0001c0001t0001 a0011c0017t0001	a0001c0001t0001g0199 a0011c0017t0001g0036 a0001c0001t0001g0199 a0011c0017t0001g0036	2	346	0.0058	24	c.281 others(41): Show c.281-1161_281-1160insATATATATATATATATTTTTTTTT	INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	5/23			chr1	TogoVar
INPP5B_chr1_37855697_37952053	37941958	A A	AAAAAAAA others(17): Show AAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG03486.hp2 NA18992.hp1 others(3): Show HG00408.hp2 HG03486.hp2 NA18992.hp1 NA19057.hp1 NA19067.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0190 others(3): Show a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193	6	346	0.0173	24	c.281 others(41): Show c.281-1161_281-1160insATATATATATATATATATTTTTTT	INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	5/23			chr1	TogoVar
INPP5D_chr2_233055342_233212903	233086119	C C	CTCTTTCT others(17): Show CTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01975.hp1 NA20300.hp1 HG01358.hp1 HG01975.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0002 a0001c0001 a0001c0006 a0002c0002	a0001c0001t0006 a0001c0006t0002 a0002c0002t0004 a0001c0001t0006 a0001c0006t0002 a0002c0002t0004	a0001c0001t0006g0153 a0001c0006t0002g0157 a0002c0002t0004g0132 a0001c0001t0006g0153 a0001c0006t0002g0157 a0002c0002t0004g0132	3	310	0.0097	24	c.198 others(41): Show c.198+6768_198+6791dupTTTCTTTCTTTCTTTCTTTCTTTC	INPP5D	ENSG00000168918.14	transcript	ENST00000445964.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
INPP5D_chr2_233055342_233212903	233116248	G G	GATAGATA others(17): Show GATAGATAGATAGATAGATATAGAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02071.hp2 HG02145.hp2 others(1): Show HG00609.hp2 HG02071.hp2 HG02145.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0013 a0001c0001 a0001c0005 a0001c0013	a0001c0001t0002 a0001c0001t0016 a0001c0005t0007 others(1): Show a0001c0001t0002 a0001c0001t0016 a0001c0005t0007 a0001c0013t0013	a0001c0001t0002g0159 a0001c0001t0016g0125 a0001c0005t0007g0186 others(1): Show a0001c0001t0002g0159 a0001c0001t0016g0125 a0001c0005t0007g0186 a0001c0013t0013g0306	4	310	0.0129	24	c.199 others(41): Show c.199-5852_199-5851insGATAGATAGATATAGATATAGATA	INPP5D	ENSG00000168918.14	transcript	ENST00000445964.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
INPP5D_chr2_233055342_233212903	233116248	G G	GATAGATA others(17): Show GATAGATATAGATATAGATATAGAT	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA20300.hp1 NA19082.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0057 a0001c0001t0006g0153 a0001c0001t0004g0057 a0001c0001t0006g0153	2	310	0.0065	24	c.199 others(41): Show c.199-5843_199-5820dupGATATAGATATAGATATAGATATA	INPP5D	ENSG00000168918.14	transcript	ENST00000445964.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
INPP5D_chr2_233055342_233212903	233176663	G G	GTGGGTGG others(17): Show GTGGGTGGATGGATGAGTGGATGAA	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA19043.hp1 NA20300.hp1 HG03195.hp1 NA19043.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0153 a0001c0001t0006g0272 a0001c0001t0006g0273 a0001c0001t0006g0153 a0001c0001t0006g0272 a0001c0001t0006g0273	3	310	0.0097	24	c.199 others(41): Show c.1990-600_1990-577dupGGGTGGATGGATGAGTGGATGAAT	INPP5D	ENSG00000168918.14	transcript	ENST00000445964.6	protein_coding	17/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
INPP5F_chr10_119721050_119834147	119785286	G G	GTTTTTTT others(17): Show GTTTTTTTTGTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0195 a0001c0001t0002g0195	1	328	0.0031	24	c.315 others(41): Show c.315+3523_315+3524insGTTTTTTTTTTTTTTTTTTTTTTT	INPP5F	ENSG00000198825.15	transcript	ENST00000650623.2	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5F_chr10_119721050_119834147	119785286	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTGTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0239 a0002c0002t0006g0239	1	328	0.0031	24	c.315 others(41): Show c.315+3532_315+3533insTTTTTTTTTTTTTTTTTTTTTTTG	INPP5F	ENSG00000198825.15	transcript	ENST00000650623.2	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5F_chr10_119721050_119834147	119785286	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0258 a0002c0004t0002g0258	1	328	0.0031	24	c.315 others(41): Show c.315+3531_315+3532insTTTTTTTTTTTTTTTTTTTTTTTT	INPP5F	ENSG00000198825.15	transcript	ENST00000650623.2	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5F_chr10_119721050_119834147	119785535	C C	CGAGAGAG others(17): Show CGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01981.hp2 HG00642.hp2 HG01981.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0222 a0002c0002t0006g0227 a0002c0002t0006g0222 a0002c0002t0006g0227	2	328	0.0061	24	c.315 others(41): Show c.315+3785_315+3808dupGAGAGAGAGAGAGAGAGAGAGAGA	INPP5F	ENSG00000198825.15	transcript	ENST00000650623.2	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5F_chr10_119721050_119834147	119787649	A A	AAGGGAGG others(17): Show AAGGGAGGAAGGCAGGCAGGCAGGC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0003 a0001c0001t0014g0003	1	328	0.0031	24	c.316 others(41): Show c.316-3864_316-3841dupGAGGAAGGCAGGCAGGCAGGCAGG	INPP5F	ENSG00000198825.15	transcript	ENST00000650623.2	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
INSC_chr11_15109923_15252208	15113119	C C	CTCTTTCT others(17): Show CTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0263 a0001c0001t0016g0263	1	270	0.0037	24	c.-19 others(35): Show c.-1930_-1929insTCTTTCTTTCTTTCTTTCTTTCTT	INSC	ENSG00000188487.12	transcript	ENST00000379556.8	protein_coding		1803		chr11	TogoVar
INSC_chr11_15109923_15252208	15116805	T T	TTTTCTTT others(17): Show TTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18983.hp2 HG02074.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0162 a0001c0001t0003g0159 a0001c0001t0001g0162 a0001c0001t0003g0159	2	270	0.0074	24	c.-46 others(41): Show c.-46+1824_-46+1847dupTTCTTTCTTTCTTTCTTTCTTTCT	INSC	ENSG00000188487.12	transcript	ENST00000379556.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
INSC_chr11_15109923_15252208	15116847	T T	TTCTTTCT others(17): Show TTCTTTCTTTCTTTCTTTCTTTCTC	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0238 a0001c0003t0002g0238	1	270	0.0037	24	c.-46 others(41): Show c.-46+1847_-46+1848insTTCTTTCTTTCTTTCTTTCTCTCT	INSC	ENSG00000188487.12	transcript	ENST00000379556.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
INSC_chr11_15109923_15252208	15116868	T T	TTTCTTTC others(17): Show TTTCTTTCTTTCTTTCCCTCCCTCC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0262 a0001c0002t0006g0262	1	270	0.0037	24	c.-46 others(41): Show c.-46+1865_-46+1866insTTCTTTCTTTCTTTCCCTCCCTCC	INSC	ENSG00000188487.12	transcript	ENST00000379556.8	protein_coding	1/12			chr11	TogoVar
INSC_chr11_15109923_15252208	15116905	C C	CTCCTTCC others(17): Show CTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0244 a0001c0001t0002g0244	1	270	0.0037	24	c.-46 others(41): Show c.-46+1905_-46+1906insTTCCTTCCTTCCTTCCTTCCTTCC	INSC	ENSG00000188487.12	transcript	ENST00000379556.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
INSC_chr11_15109923_15252208	15210371	A A	AGCCTGTT others(17): Show AGCCTGTTCTGTGGGCTACAGACAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00609.hp1 others(97): Show HG00099.hp1 HG00099.hp2 HG00609.hp1 HG00609.hp2 HG00733.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01106.hp2 HG01192.hp1 HG01256.hp2 HG01346.hp1 HG01361.hp2 HG01952.hp1 HG01993.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02074.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02273.hp2 HG02293.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03017.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03654.hp2 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG04115.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18747.hp2 NA18944.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18960.hp2 NA18973.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18989.hp1 NA18989.hp2 NA18993.hp1 NA18998.hp1 NA19000.hp2 NA19006.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19065.hp1 NA19066.hp2 NA19074.hp1 NA19081.hp2 NA19240.hp1 NA20129.hp1 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0012 a0002c0004 a0002c0011 a0003c0005 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0018 a0001c0002t0003 a0001c0002t0005 a0001c0003t0002 a0001c0012t0001 a0002c0004t0001 a0002c0004t0002 a0002c0011t0002 a0003c0005t0001 a0003c0005t0004 a0003c0005t0009 a0005c0007t0001 a0005c0007t0014	a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0025 others(96): Show a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0039 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0067 a0001c0001t0001g0072 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0178 a0001c0001t0001g0184 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0001g0215 a0001c0001t0001g0239 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0256 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0054 a0001c0001t0002g0167 a0001c0001t0002g0201 a0001c0001t0002g0232 a0001c0001t0002g0244 a0001c0001t0003g0002 a0001c0001t0003g0012 a0001c0001t0003g0131 a0001c0001t0003g0159 a0001c0001t0003g0164 a0001c0001t0003g0179 a0001c0001t0003g0203 a0001c0001t0004g0135 a0001c0001t0004g0181 a0001c0001t0005g0051 a0001c0001t0005g0055 a0001c0001t0005g0076 a0001c0001t0005g0153 a0001c0001t0008g0148 a0001c0001t0018g0071 a0001c0002t0003g0014 a0001c0002t0003g0042 a0001c0002t0003g0114 a0001c0002t0003g0219 a0001c0002t0003g0241 a0001c0002t0003g0242 a0001c0002t0003g0257 a0001c0002t0005g0158 a0001c0003t0002g0080 a0001c0012t0001g0165 a0002c0004t0001g0030 a0002c0004t0001g0045 a0002c0004t0001g0228 a0002c0004t0001g0231 a0002c0004t0001g0234 a0002c0004t0001g0243 a0002c0004t0001g0259 a0002c0004t0002g0227 a0002c0011t0002g0021 a0003c0005t0001g0197 a0003c0005t0004g0085 a0003c0005t0004g0212 a0003c0005t0009g0052 a0003c0005t0009g0112 a0003c0005t0009g0250 a0005c0007t0001g0196 a0005c0007t0014g0075	100	270	0.3704	24	c.819 others(41): Show c.819+9437_819+9460dupCTACAGACATGCCTGTTCTGTGGG	INSC	ENSG00000188487.12	transcript	ENST00000379556.8	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
INSC_chr11_15109923_15252208	15210400	G G	GTTCTGTG others(17): Show GTTCTGTGGGCTACAGACATGCCTA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02109.hp1 HG02258.hp2 others(12): Show HG00735.hp1 HG02109.hp1 HG02258.hp2 HG02486.hp1 HG02486.hp2 HG02622.hp2 HG02630.hp1 HG02818.hp2 HG02896.hp1 HG02897.hp2 HG03139.hp2 HG03195.hp2 HG03540.hp2 HG03579.hp1 NA21309.hp2	a0001 a0004 a0009 a0001 a0004 a0009	a0001c0001 a0001c0002 a0004c0006 others(2): Show a0001c0001 a0001c0002 a0004c0006 a0004c0008 a0009c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0024 a0001c0002t0008 a0004c0006t0001 a0004c0008t0015 a0009c0015t0001	a0001c0001t0001g0237 a0001c0001t0002g0132 a0001c0001t0005g0063 others(12): Show a0001c0001t0001g0237 a0001c0001t0002g0132 a0001c0001t0005g0063 a0001c0001t0005g0130 a0001c0001t0008g0104 a0001c0001t0008g0188 a0001c0001t0008g0189 a0001c0001t0024g0046 a0001c0002t0008g0125 a0004c0006t0001g0136 a0004c0006t0001g0245 a0004c0006t0001g0246 a0004c0008t0015g0033 a0004c0008t0015g0034 a0009c0015t0001g0036	15	270	0.0556	24	c.819 others(41): Show c.819+9460_819+9461insCTACAGACATGCCTATTCTGTGGG	INSC	ENSG00000188487.12	transcript	ENST00000379556.8	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
INSC_chr11_15109923_15252208	15247733	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG01884.hp2 HG02257.hp2 others(5): Show HG00099.hp2 HG01884.hp2 HG02257.hp2 HG02572.hp2 HG02698.hp2 HG02976.hp2 HG03209.hp2 NA18955.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0003c0005	a0001c0001t0004 a0001c0001t0006 a0001c0002t0006 others(2): Show a0001c0001t0004 a0001c0001t0006 a0001c0002t0006 a0001c0003t0004 a0003c0005t0009	a0001c0001t0004g0135 a0001c0001t0006g0086 a0001c0002t0006g0032 others(5): Show a0001c0001t0004g0135 a0001c0001t0006g0086 a0001c0002t0006g0032 a0001c0002t0006g0119 a0001c0002t0006g0254 a0001c0003t0004g0225 a0003c0005t0009g0112 a0003c0005t0009g0250	8	270	0.0296	24	c.16 others(35): Show c.1693_*1694insTATATATATATATATATATATATA	INSC	ENSG00000188487.12	transcript	ENST00000379556.8	protein_coding		526		chr11	TogoVar
INSIG2_chr2_118083471_118115997	118094367	A A	AGATGATG others(17): Show AGATGATGATGATGATGATGATGAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02572.hp1 HG02647.hp2 others(2): Show HG02257.hp2 HG02572.hp1 HG02647.hp2 HG02809.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0032 a0001c0002t0004g0259 a0001c0002t0004g0260 a0001c0002t0004g0032 a0001c0002t0004g0259 a0001c0002t0004g0260	5	440	0.0114	24	c.-13 others(43): Show c.-138-2030_-138-2029insATGATGATGATGATGATGATGATG	INSIG2	ENSG00000125629.16	transcript	ENST00000245787.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
INSM2_chr14_35529164_35542054	35541040	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG02165.hp1 NA19084.hp2 HG01070.hp2 HG02165.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0001t0001g0000 a0001c0002t0001g0000	3	402	0.0075	24	c.50 others(35): Show c.5087_*5088insTTTTTTTTTTTTTTTTTTTTTTTT	INSM2	ENSG00000168348.4	transcript	ENST00000307169.4	protein_coding		3987		chr14	TogoVar
INSRR_chr1_156835063_156864117	156855176	T T	TTATCTAT others(17): Show TTATCTATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02523.hp1 HG02630.hp1 HG00597.hp2 HG02523.hp1 HG02630.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0004 a0002c0002t0009 a0001c0001t0001 a0002c0002t0004 a0002c0002t0009	a0001c0001t0001g0148 a0002c0002t0004g0149 a0002c0002t0009g0289 a0001c0001t0001g0148 a0002c0002t0004g0149 a0002c0002t0009g0289	3	356	0.0084	24	c.86- others(37): Show c.86-897_86-874dupGATAGATAGATAGATAGATAGATA	INSRR	ENSG00000027644.5	transcript	ENST00000368195.4	protein_coding	1/21			chr1	TogoVar
INSR_chr19_7107265_7299414	7124588	A A	AAAAAATA others(17): Show AAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0033 a0001c0017t0033	a0001c0017t0033g0170 a0001c0017t0033g0170	1	300	0.0033	24	c.325 others(41): Show c.3258+694_3258+695insATATATATATATATATATATTTTT	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	17/21			chr19	TogoVar
INSR_chr19_7107265_7299414	7136828	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0041 a0001c0041	a0001c0041t0007 a0001c0041t0007	a0001c0041t0007g0266 a0001c0041t0007g0266	1	300	0.0033	24	c.268 others(43): Show c.2683-4512_2683-4511insATATATATATATATATATATATAT	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	13/21			chr19	TogoVar
INSR_chr19_7107265_7299414	7197514	G G	GGTGTGTG others(17): Show GGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02300.hp1 HG04204.hp1 others(1): Show HG01934.hp1 HG02300.hp1 HG04204.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0002t0015 others(1): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0015 a0001c0002t0114	a0001c0001t0002g0040 a0001c0002t0001g0238 a0001c0002t0015g0201 others(1): Show a0001c0001t0002g0040 a0001c0002t0001g0238 a0001c0002t0015g0201 a0001c0002t0114g0138	4	300	0.0133	24	c.653 others(43): Show c.653-12878_653-12877insACACACACACACACACACACACAC	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	2/21			chr19	TogoVar
INSR_chr19_7107265_7299414	7207901	A A	AAAGGAAG others(17): Show AAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02818.hp1 NA18948.hp1 others(3): Show HG00280.hp1 HG02818.hp1 NA18948.hp1 NA18985.hp1 NA18993.hp2 NA19084.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(1): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0002t0022 a0001c0003t0034 a0001c0003t0059 others(3): Show a0001c0002t0022 a0001c0003t0034 a0001c0003t0059 a0001c0003t0063 a0001c0004t0128 a0001c0005t0121	a0001c0002t0022g0003 a0001c0003t0034g0214 a0001c0003t0059g0075 others(3): Show a0001c0002t0022g0003 a0001c0003t0034g0214 a0001c0003t0059g0075 a0001c0003t0063g0065 a0001c0004t0128g0179 a0001c0005t0121g0097	6	300	0.0200	24	c.653 others(43): Show c.653-23288_653-23265dupCCTTCCTTCCTTCCTTCCTTCCTT	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	2/21			chr19	TogoVar
INSR_chr19_7107265_7299414	7207940	G G	GGAAGGAA others(17): Show GGAAGGAAGGAAGGAAGGAAGGGAA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0114 a0001c0002t0114	a0001c0002t0114g0138 a0001c0002t0114g0138	1	300	0.0033	24	c.653 others(43): Show c.653-23304_653-23303insTTCCCTTCCTTCCTTCCTTCCTTC	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	2/21			chr19	TogoVar
INSR_chr19_7107265_7299414	7229316	G G	GGATGGAT others(17): Show GGATGGATGGATGGATGGATGGATA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02976.hp2 HG02109.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0059 a0001c0001 a0001c0059	a0001c0001t0091 a0001c0059t0013 a0001c0001t0091 a0001c0059t0013	a0001c0001t0091g0143 a0001c0059t0013g0187 a0001c0001t0091g0143 a0001c0059t0013g0187	2	300	0.0067	24	c.652 others(43): Show c.652+38028_652+38029insTATCCATCCATCCATCCATCCATC	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	2/21			chr19	TogoVar
INSYN1_chr15_73730458_73758351	73731329	C C	CCCCCTTC others(17): Show CCCCCTTCCCCTTCCCCTTCCCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0015 a0001c0003t0007g0015	1	406	0.0025	24	c.85 others(35): Show c.8587_*8588insAAGGGGAAGGGGAAGGGGAAGGGG	INSYN1	ENSG00000205363.7	transcript	ENST00000569673.3	protein_coding		4128		chr15	TogoVar
INSYN1_chr15_73730458_73758351	73731842	T T	TGTTTTAC others(17): Show TGTTTTACAGAGAGCTGATTGGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	406	0.0025	24	c.80 others(35): Show c.8074_*8075insGGACCAATCAGCTCTCTGTAAAAC	INSYN1	ENSG00000205363.7	transcript	ENST00000569673.3	protein_coding		3615		chr15	TogoVar
INSYN2B_chr5_169856303_169985495	169948613	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0004 a0002c0007t0004	a0002c0007t0004g0075 a0002c0007t0004g0075	1	318	0.0031	24	c.-91 others(45): Show c.-919+31663_-919+31664insAAAAAAAAAAAAAAAAAAAAAAAA	INSYN2B	ENSG00000204767.4	transcript	ENST00000377365.4	protein_coding	1/3			chr5	TogoVar
INSYN2B_chr5_169856303_169985495	169961978	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0289 a0002c0002t0002g0289	1	318	0.0031	24	c.-91 others(45): Show c.-919+18298_-919+18299insTTTTTTTTTTTTTTTTTTTTTTTT	INSYN2B	ENSG00000204767.4	transcript	ENST00000377365.4	protein_coding	1/3			chr5	TogoVar
INTS11_chr1_1306600_1329660	1324155	A A	AGAGGCTG others(17): Show AGAGGCTGGGGAGCTGGGGAGCTGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(33): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01099.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01361.hp2 HG01433.hp2 HG01517.hp1 HG01934.hp2 HG01993.hp2 HG02004.hp2 HG02257.hp1 HG02486.hp1 HG02559.hp2 HG02683.hp2 HG02698.hp2 HG03017.hp2 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 NA18967.hp2 NA20805.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0014 a0001c0001 a0001c0003 a0002c0014	a0001c0001t0001 a0001c0003t0001 a0002c0014t0001 a0001c0001t0001 a0001c0003t0001 a0002c0014t0001	a0001c0001t0001g0035 a0001c0001t0001g0059 a0001c0003t0001g0004 others(17): Show a0001c0001t0001g0035 a0001c0001t0001g0059 a0001c0003t0001g0004 a0001c0003t0001g0010 a0001c0003t0001g0016 a0001c0003t0001g0017 a0001c0003t0001g0033 a0001c0003t0001g0034 a0001c0003t0001g0037 a0001c0003t0001g0120 a0001c0003t0001g0121 a0001c0003t0001g0124 a0001c0003t0001g0126 a0001c0003t0001g0135 a0001c0003t0001g0136 a0001c0003t0001g0137 a0001c0003t0001g0138 a0001c0003t0001g0139 a0001c0003t0001g0206 a0002c0014t0001g0122	36	354	0.1017	24	c.28+ others(37): Show c.28+425_28+426insCCAGCTCCCCAGCTCCCCAGCCTC	INTS11	ENSG00000127054.22	transcript	ENST00000435064.6	protein_coding	1/16			chr1	TogoVar
INTS12_chr4_105677627_105713689	105700706	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	312	0.0032	24	c.-9- others(37): Show c.-9-716_-9-693dupGTGTGTGTGTGTGTGTGTGTGTGT	INTS12	ENSG00000138785.16	transcript	ENST00000340139.10	protein_coding	2/7			chr4	TogoVar
INTS3_chr1_153723050_153779808	153725170	C C	CTCTCTCT others(17): Show CTCTCTCTCTCTCTCTCTCTCTCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0313 a0001c0002t0005g0313	1	349	0.0029	24	c.-34 others(35): Show c.-3465_-3464insTCTCTCTCTCTCTCTCTCTCTCTA	INTS3	ENSG00000143624.14	transcript	ENST00000318967.7	protein_coding		2879		chr1	TogoVar
INTS4_chr11_77873720_77999668	77920154	T T	TATATACA others(17): Show TATATACACATATATATACATATAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01167.hp1 HG01261.hp2 others(2): Show HG00738.hp2 HG01167.hp1 HG01261.hp2 HG02109.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 others(2): Show a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0068 a0001c0001t0001g0089	5	362	0.0138	24	c.176 others(43): Show c.1764+1162_1765-1177dupGTATATGTATATATATGTGTATAT	INTS4	ENSG00000149262.19	transcript	ENST00000534064.6	protein_coding	14/22			chr11	TogoVar
INTS4_chr11_77873720_77999668	77920206	C C	CACACATA others(17): Show CACACATATATATACACATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00408.hp1 others(55): Show HG00099.hp2 HG00140.hp1 HG00408.hp1 HG00609.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01255.hp2 HG01358.hp2 HG01361.hp2 HG01515.hp1 HG01516.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02129.hp2 HG02165.hp2 HG02257.hp2 HG02273.hp2 HG02293.hp1 HG02486.hp2 HG02572.hp2 HG02615.hp2 HG02717.hp1 HG02735.hp1 HG02886.hp1 HG03017.hp2 HG03041.hp2 HG03209.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03516.hp1 HG03579.hp2 HG03669.hp1 HG03710.hp1 HG03927.hp1 NA18947.hp2 NA18959.hp1 NA18961.hp1 NA18964.hp2 NA18970.hp1 NA18971.hp2 NA18979.hp1 NA18985.hp1 NA18990.hp2 NA18991.hp2 NA18994.hp2 NA18998.hp1 NA19062.hp2 NA19074.hp1 NA19088.hp1 NA20129.hp1 NA20129.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0262 a0001c0001t0001g0276 a0001c0001t0001g0318 others(55): Show a0001c0001t0001g0262 a0001c0001t0001g0276 a0001c0001t0001g0318 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0357 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0091 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0256 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0291	58	362	0.1602	24	c.176 others(43): Show c.1764+1133_1764+1134insATATATATGTGTATATATATGTGT	INTS4	ENSG00000149262.19	transcript	ENST00000534064.6	protein_coding	14/22			chr11	TogoVar
INTS4_chr11_77873720_77999668	77920212	T T	TATATATA others(17): Show TATATATACACATATATATACACAC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	362	0.0028	24	c.176 others(43): Show c.1764+1127_1764+1128insGTGTGTATATATATGTGTATATAT	INTS4	ENSG00000149262.19	transcript	ENST00000534064.6	protein_coding	14/22			chr11	TogoVar
INTS6_chr13_51356577_51458036	51404063	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0174 a0001c0001t0004g0174	1	358	0.0028	24	c.430 others(41): Show c.430-8604_430-8581dupGTGTGTGTGTGTGTGTGTGTGTGT	INTS6	ENSG00000102786.15	transcript	ENST00000311234.9	protein_coding	4/17			chr13	TogoVar
INTU_chr4_127627957_127731737	127691962	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0306 a0002c0003t0003g0306	1	358	0.0028	24	c.144 others(43): Show c.1449+4114_1449+4115insATATATATATATATATATATATAT	INTU	ENSG00000164066.13	transcript	ENST00000335251.11	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
INTU_chr4_127627957_127731737	127691962	G G	GTGTATAT others(17): Show GTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0037 a0001c0001t0055g0037	1	358	0.0028	24	c.144 others(43): Show c.1449+4096_1449+4097insGTATATATATATATATATATATAT	INTU	ENSG00000164066.13	transcript	ENST00000335251.11	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
INTU_chr4_127627957_127731737	127691962	G G	GTGTGTGT others(17): Show GTGTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0131 a0001c0001t0026g0131	1	358	0.0028	24	c.144 others(43): Show c.1449+4096_1449+4097insGTGTGTATATATATATATATATAT	INTU	ENSG00000164066.13	transcript	ENST00000335251.11	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
INVS_chr9_100094243_100307175	100100575	T T	TATATAAT others(17): Show TATATAATATATATAATATATGTAC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0042 a0001c0001t0003g0042	1	182	0.0055	24	c.-25 others(41): Show c.-25+1183_-25+1206dupCATATAATATATATAATATATGTA	INVS	ENSG00000119509.13	transcript	ENST00000262457.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr9	TogoVar
INVS_chr9_100094243_100307175	100133764	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01975.hp1 NA18999.hp2 HG01975.hp1 NA18999.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0167 a0001c0002t0002g0175 a0001c0002t0001g0167 a0001c0002t0002g0175	2	182	0.0110	24	c.273 others(41): Show c.273+7233_273+7256dupCACACACACACACACACACACACA	INVS	ENSG00000119509.13	transcript	ENST00000262457.7	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr9	TogoVar
INVS_chr9_100094243_100307175	100154331	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0030 a0001c0001t0027g0030	1	182	0.0055	24	c.273 others(43): Show c.273+27787_273+27810dupTTTTTTTTTTTTTTTTTTTTTTTT	INVS	ENSG00000119509.13	transcript	ENST00000262457.7	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr9	TogoVar
IP6K1_chr3_49719294_49791542	49731887	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	260	0.0039	24	c.616 others(39): Show c.616+903_616+904insTTTTTTTTTTTTTTTTTTTTTTTT	IP6K1	ENSG00000176095.12	transcript	ENST00000321599.9	protein_coding	4/5			chr3	TogoVar
IP6K1_chr3_49719294_49791542	49780309	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01106.hp1 HG01192.hp2 others(19): Show HG00609.hp2 HG01106.hp1 HG01192.hp2 HG01496.hp1 HG02004.hp2 HG02559.hp2 HG02683.hp2 HG02717.hp1 HG03490.hp2 HG03710.hp1 HG04184.hp1 HG04228.hp2 NA18946.hp2 NA18952.hp2 NA18962.hp2 NA18968.hp1 NA18979.hp2 NA18999.hp2 NA19063.hp2 NA19085.hp1 NA19091.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0012 a0002c0002t0001	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(19): Show a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0139 a0001c0001t0002g0004 a0001c0001t0002g0188 a0001c0001t0002g0191 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0240 a0001c0001t0002g0256 a0001c0001t0003g0008 a0001c0001t0011g0064 a0001c0001t0012g0024 a0002c0002t0001g0067	22	260	0.0846	24	c.-12 others(43): Show c.-129+6021_-129+6044dupGTGTGTGTGTGTGTGTGTGTGTGT	IP6K1	ENSG00000176095.12	transcript	ENST00000321599.9	protein_coding	1/5			chr3	TogoVar
IPCEF1_chr6_154149496_154361803	154152344	A A	AAAAGAAA others(17): Show AAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp2 NA19085.hp1 NA19066.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0079 a0001c0001t0003g0226 a0001c0001t0003g0079 a0001c0001t0003g0226	2	264	0.0076	24	c.74 others(35): Show c.7483_*7484insCTTTCTTTCTTTCTTTCTTTCTTT	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding		2151		chr6	TogoVar
IPCEF1_chr6_154149496_154361803	154152347	G G	GAAAGAAA others(17): Show GAAAGAAAGGAAAGAAAGAAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	264	0.0038	24	c.74 others(35): Show c.7480_*7481insTTTCTTTCTTTCTTTCCTTTCTTT	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding		2148		chr6	TogoVar
IPCEF1_chr6_154149496_154361803	154152347	G G	GAAAGGAA others(17): Show GAAAGGAAAGAAAGAAAGAAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0242 a0001c0001t0011g0242	1	264	0.0038	24	c.74 others(35): Show c.7480_*7481insTTTCTTTCTTTCTTTCTTTCCTTT	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding		2148		chr6	TogoVar

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