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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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
IHO1_chr3_49194498_49263106	49214632	A A	ATATATAT others(24): Show ATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0010 a0002c0004t0002g0010	1	196	0.0051	31	c.56+ others(46): Show c.56+2797_56+2798insATATATATATATATATATATATTTTTTTTT T	IHO1	ENSG00000173421.17	transcript	ENST00000452691.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
IHO1_chr3_49194498_49263106	49214632	A A	ATATATAT others(24): Show ATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	196	0.0051	31	c.56+ others(46): Show c.56+2797_56+2798insATATATATATATATATATATTTTTTTTTTT T	IHO1	ENSG00000173421.17	transcript	ENST00000452691.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
IHO1_chr3_49194498_49263106	49214632	A A	ATATATAT others(24): Show ATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03139.hp1 HG02622.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0126 a0001c0001t0001g0118 a0001c0001t0001g0126	2	196	0.0102	31	c.56+ others(46): Show c.56+2797_56+2798insATATATATATATATATATTTTTTTTTTTTT T	IHO1	ENSG00000173421.17	transcript	ENST00000452691.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
IK_chr5_140642829_140667480	140660292	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	380	0.0026	31	c.135 others(48): Show c.1355+119_1355+120insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	IK	ENSG00000113141.19	transcript	ENST00000417647.7	protein_coding	15/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
IL13RA1_chrX_118722606_118799533	118784090	A A	ATATATAT others(24): Show ATATATATATATACGTATATATGTATATATAC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0023	1	280	0.0036	31	c.119 others(50): Show c.1191+7579_1191+7580insTATATATATATACGTATATATGTATA TATAC	IL13RA1	ENSG00000131724.11	transcript	ENST00000371666.8	protein_coding	10/10			chrX	TogoVar
IL13RA1_chrX_118722606_118799533	118795227	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	280	0.0036	31	c.33 others(42): Show c.3373_*3374insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	IL13RA1	ENSG00000131724.11	transcript	ENST00000371666.8	protein_coding		695		chrX	TogoVar
IL16_chr15_81191879_81319058	81243163	A A	ATATATAC others(24): Show ATATATACATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0200 a0001c0002t0001g0200	1	342	0.0029	31	c.313 others(50): Show c.313-16608_313-16607insATATACATATATATATATATATATAT ATATT	IL16	ENSG00000172349.19	transcript	ENST00000683961.1	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
IL16_chr15_81191879_81319058	81275363	G G	GGGGGGAG others(24): Show GGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA20129.hp2 HG02559.hp2 NA20129.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0022 a0001c0005t0022	a0001c0005t0022g0038 a0001c0005t0022g0039 a0001c0005t0022g0038 a0001c0005t0022g0039	2	342	0.0059	31	c.790 others(48): Show c.790+2163_790+2164insGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGG	IL16	ENSG00000172349.19	transcript	ENST00000683961.1	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
IL1RAPL1_chrX_28582446_29961718	29479414	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	135	0.0074	31	c.703 others(50): Show c.703+80123_703+80124insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	IL1RAPL1	ENSG00000169306.11	transcript	ENST00000378993.6	protein_coding	5/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RAPL1_chrX_28582446_29961718	29918144	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0036 a0001c0001t0010g0036	1	135	0.0074	31	c.911 others(46): Show c.911+549_911+550insAAAAAAAAAAAAAAATATATATATATATAT A	IL1RAPL1	ENSG00000169306.11	transcript	ENST00000378993.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RAPL1_chrX_28582446_29961718	29918144	A A	AAAAAAAA others(24): Show AAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	135	0.0074	31	c.911 others(46): Show c.911+549_911+550insAAAAAAAAATATATATATATATATATATAT A	IL1RAPL1	ENSG00000169306.11	transcript	ENST00000378993.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RAPL2_chrX_104561199_105772829	104855681	G G	GTGTTTTT others(24): Show GTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03688.hp1 NA18965.hp1 NA18982.hp1 HG03688.hp1 NA18965.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0101 a0001c0001t0001g0141 a0001c0002t0001g0102 a0001c0001t0001g0101 a0001c0001t0001g0141 a0001c0002t0001g0102	3	141	0.0213	31	c.82+ others(50): Show c.82+196687_82+196688insGTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL31RA_chr5_55846357_55927850	55897000	A A	AAAAATAT others(24): Show AAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0042 a0001c0003t0042	a0001c0003t0042g0154 a0001c0003t0042g0154	1	322	0.0031	31	c.852 others(46): Show c.852+572_852+573insAAATATATATATATATATATATATATATAT A	IL31RA	ENSG00000164509.16	transcript	ENST00000652347.2	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
IL31RA_chr5_55846357_55927850	55897000	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0174 a0001c0001t0002g0174	1	322	0.0031	31	c.852 others(46): Show c.852+571_852+572insTATATATATATATATATATATATATATATA T	IL31RA	ENSG00000164509.16	transcript	ENST00000652347.2	protein_coding	7/14			chr5	TogoVar
IL31RA_chr5_55846357_55927850	55897015	A A	ATATATAT others(24): Show ATATATATATATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA18978.hp1 HG02257.hp2 NA18978.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0050 a0002c0002t0001 a0001c0003t0050 a0002c0002t0001	a0001c0003t0050g0028 a0002c0002t0001g0045 a0001c0003t0050g0028 a0002c0002t0001g0045	2	322	0.0062	31	c.852 others(46): Show c.852+587_852+588insATATATATATTTTTTTTTTTTTTTTTTTTT T	IL31RA	ENSG00000164509.16	transcript	ENST00000652347.2	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
IL31RA_chr5_55846357_55927850	55897016	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0097 a0001c0001t0097	a0001c0001t0097g0245 a0001c0001t0097g0245	1	322	0.0031	31	c.852 others(46): Show c.852+587_852+588insATATATATATATATATATATATATATATAT A	IL31RA	ENSG00000164509.16	transcript	ENST00000652347.2	protein_coding	7/14			chr5	TogoVar
IL3RA_chrX_1331785_1387689	1380456	G G	GAGGAAAT others(24): Show GAGGAAATGGGGGAGGAGGGGGGAAGGGAGGA	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0007 a0007c0010t0001g0007	1	115	0.0087	31	c.981 others(46): Show c.981-567_981-566insAGGAAATGGGGGAGGAGGGGGGAAGGGAGG A	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	10/11			chrX	TogoVar
IL6R_chr1_154400343_154474450	154423260	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0014	a0002c0002t0014g0306 a0002c0002t0014g0306	1	346	0.0029	31	c.86- others(46): Show c.86-5936_86-5935insTATATATATATATATATATATATATATATA T	IL6R	ENSG00000160712.13	transcript	ENST00000368485.8	protein_coding	1/9			chr1	TogoVar
IMPA2_chr18_11976507_12035877	11978211	C C	CTTTCTTT others(24): Show CTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0337 a0001c0003t0001g0337	1	364	0.0028	31	c.-34 others(42): Show c.-3459_-3458insTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT	IMPA2	ENSG00000141401.12	transcript	ENST00000269159.8	protein_coding		3295		chr18	TogoVar
IMPG1_chr6_75916114_76077662	75974393	T T	TTCTTTCC others(24): Show TTCTTTCCTTCCTTCCTTCCTTCCTTGCTTCC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0003 a0005c0006t0003	a0005c0006t0003g0228 a0005c0006t0003g0228	1	302	0.0033	31	c.129 others(52): Show c.1292-23300_1292-23299insGGAAGCAAGGAAGGAAGGAAGGAA GGAAAGA	IMPG1	ENSG00000112706.12	transcript	ENST00000369950.8	protein_coding	12/16			chr6	TogoVar
INAVA_chr1_200889900_200920742	200917847	C C	CTCTCTCT others(24): Show CTCTCTCTATATATATATATCATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0002 a0001c0002t0007g0002	1	424	0.0024	31	c.42 others(42): Show c.4218_*4219insTCTCTCTATATATATATATCATATATATATA	INAVA	ENSG00000163362.11	transcript	ENST00000413687.3	protein_coding		2106		chr1	TogoVar
INO80D_chr2_205988721_206091174	206075039	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0203 a0001c0004t0007g0203	1	334	0.0030	31	c.-12 others(52): Show c.-124+10861_-124+10862insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	INO80D	ENSG00000114933.16	transcript	ENST00000403263.6	protein_coding	1/10			chr2	TogoVar
INO80_chr15_40973880_41121280	41035065	T T	TAACATTT others(24): Show TAACATTTGCTGTGAAGAAACACGGGTAACAG	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0136 a0001c0001t0002g0136	1	282	0.0036	31	c.290 others(50): Show c.2908-7360_2908-7330dupCTGTTACCCGTGTTTCTTCACAGCAA ATGTT	INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35			chr15	TogoVar
INPP5A_chr10_132532787_132788480	132559639	C C	CTTACTCA others(24): Show CTTACTCAGCACGTGTGTTCCAGGGACCTCAG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01952.hp1 HG02015.hp2 others(4): Show HG01109.hp2 HG01952.hp1 HG02015.hp2 HG04199.hp2 NA18945.hp2 NA18971.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 others(4): Show a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0010g0047 a0001c0001t0010g0048	7	204	0.0343	31	c.75+ others(48): Show c.75+21526_75+21556dupCTCAGTTACTCAGCACGTGTGTTCCAGG GAC	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132774981	G G	GGAGAGAG others(24): Show GGAGAGAGGGGCAGAGAGGAGGGGCAGGGAGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0015 a0001c0004t0002g0015	1	204	0.0049	31	c.978 others(48): Show c.978-2687_978-2686insAGAGGGGCAGAGAGGAGGGGCAGGGAGA GAG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5B_chr1_37855697_37952053	37917339	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0171 a0001c0001t0006g0171	1	346	0.0029	31	c.532 others(50): Show c.532+14573_532+14574insTATATATATATATATATATATATATA TATAT	INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	7/23			chr1	TogoVar
INPP5B_chr1_37855697_37952053	37941958	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02486.hp1 HG04228.hp2 others(2): Show HG01192.hp1 HG02486.hp1 HG04228.hp2 NA18982.hp2 NA18990.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0003 others(1): Show a0001c0001 a0002c0002 a0002c0003 a0003c0004	a0001c0001t0005 a0002c0002t0003 a0002c0003t0002 others(1): Show a0001c0001t0005 a0002c0002t0003 a0002c0003t0002 a0003c0004t0004	a0001c0001t0005g0232 a0002c0002t0003g0337 a0002c0003t0002g0271 others(2): Show a0001c0001t0005g0232 a0002c0002t0003g0337 a0002c0003t0002g0271 a0003c0004t0004g0013 a0003c0004t0004g0014	5	346	0.0145	31	c.281 others(48): Show c.281-1161_281-1160insATATATATATATATATATTTTTTTTTTT TTT	INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	5/23			chr1	TogoVar
INPP5B_chr1_37855697_37952053	37941958	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG01168.hp2 others(4): Show HG00140.hp1 HG00140.hp2 HG01168.hp2 HG01258.hp1 HG01346.hp2 HG01358.hp1 NA19009.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0002c0003 a0003c0004 a0002c0002 a0002c0003 a0003c0004	a0002c0002t0002 a0002c0003t0002 a0003c0004t0004 a0002c0002t0002 a0002c0003t0002 a0003c0004t0004	a0002c0002t0002g0072 a0002c0003t0002g0260 a0002c0003t0002g0261 others(4): Show a0002c0002t0002g0072 a0002c0003t0002g0260 a0002c0003t0002g0261 a0002c0003t0002g0262 a0003c0004t0004g0009 a0003c0004t0004g0010 a0003c0004t0004g0231	7	346	0.0202	31	c.281 others(48): Show c.281-1161_281-1160insATATATATATATATATATATTTTTTTTT TTT	INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	5/23			chr1	TogoVar
INPP5B_chr1_37855697_37952053	37941958	A A	AAAAAAAA others(24): Show AAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG02109.hp2 HG02145.hp1 others(1): Show HG01517.hp2 HG02109.hp2 HG02145.hp1 NA19011.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0002 a0002c0003t0002 a0002c0002t0002 a0002c0003t0002	a0002c0002t0002g0070 a0002c0003t0002g0247 a0002c0003t0002g0248 others(1): Show a0002c0002t0002g0070 a0002c0003t0002g0247 a0002c0003t0002g0248 a0002c0003t0002g0249	4	346	0.0116	31	c.281 others(48): Show c.281-1161_281-1160insATATATATATATATATATATATTTTTTT TTT	INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	5/23			chr1	TogoVar
INSR_chr19_7107265_7299414	7207940	G G	GGAAGGAA others(24): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG02300.hp1 NA20129.hp2 HG02300.hp1 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0001 a0001c0007t0001 a0001c0002t0001 a0001c0007t0001	a0001c0002t0001g0238 a0001c0007t0001g0173 a0001c0002t0001g0238 a0001c0007t0001g0173	2	300	0.0067	31	c.653 others(50): Show c.653-23304_653-23303insTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTC	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	2/21			chr19	TogoVar
INS_chr11_2154779_2166209	2161592	A A	AGGACCCC others(24): Show AGGACCCCTGTCCCCAGGACCCCTGTCCCCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG02074.hp2 HG03834.hp2 others(14): Show HG00735.hp2 HG02074.hp2 HG03834.hp2 HG03942.hp1 NA18942.hp2 NA18950.hp1 NA18961.hp1 NA18977.hp2 NA18983.hp1 NA18986.hp2 NA18992.hp1 NA18995.hp1 NA19010.hp2 NA19054.hp2 NA19080.hp2 NA19085.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0004 a0002c0003t0001 a0001c0001t0001 a0001c0001t0004 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0004g0019 a0002c0003t0001g0009 a0001c0001t0001g0001 a0001c0001t0004g0019 a0002c0003t0001g0009	17	376	0.0452	31	c.-44 others(40): Show c.-443_-442insCTGGGGACAGGGGTCCTGGGGACAGGGGTCC	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		384		chr11	TogoVar
INTS11_chr1_1306600_1329660	1324761	G G	GGGCGAGG others(24): Show GGGCGAGGGCGGGGCGAGGGCGGGGCGAGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG01517.hp2 HG01516.hp2 HG01517.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0174 a0001c0005t0001g0191 a0001c0005t0001g0174 a0001c0005t0001g0191	2	354	0.0057	31	c.-15 others(40): Show c.-154_-153insGCCCTCGCCCCGCCCTCGCCCCGCCCTCGCC	INTS11	ENSG00000127054.22	transcript	ENST00000435064.6	protein_coding		102		chr1	TogoVar
INTS15_chr7_6585021_6613726	6613356	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp1 NA18989.hp2 HG02080.hp1 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0179 a0001c0001t0001g0138 a0001c0001t0001g0179	2	394	0.0051	31	c.51 others(42): Show c.5195_*5196insATATATATATATATATATATATATATATATA	INTS15	ENSG00000146576.13	transcript	ENST00000344417.10	protein_coding		4631		chr7	TogoVar
INTS8_chr8_94818287_94886746	94861256	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	310	0.0032	31	c.207 others(50): Show c.2076+1647_2076+1648insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	INTS8	ENSG00000164941.14	transcript	ENST00000523731.6	protein_coding	16/26		INFO_REALIGN_3_PRIME	chr8	TogoVar
INTU_chr4_127627957_127731737	127697954	C C	CTACTAAA others(24): Show CTACTAAAAATACAAAATAAGCTGGGTGTGAT	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0212 a0001c0002t0001g0212	1	358	0.0028	31	c.145 others(50): Show c.1450-2055_1450-2025dupTACTAAAAATACAAAATAAGCTGGGT GTGAT	INTU	ENSG00000164066.13	transcript	ENST00000335251.11	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
IPCEF1_chr6_154149496_154361803	154152347	G G	GAAAGAAA others(24): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG02132.hp2 HG00741.hp1 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0096 a0001c0001t0003g0130 a0001c0001t0003g0096 a0001c0001t0003g0130	2	264	0.0076	31	c.74 others(42): Show c.7480_*7481insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding		2148		chr6	TogoVar
IPCEF1_chr6_154149496_154361803	154331370	G G	GAAAGAAA others(24): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA20129.hp1 HG03209.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0137 a0001c0001t0005g0255 a0001c0001t0004g0137 a0001c0001t0005g0255	2	264	0.0076	31	c.-62 others(50): Show c.-62+25301_-62+25302insTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTT	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding	1/11			chr6	TogoVar
IPMK_chr10_58186517_58272894	58211901	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18943.hp2 HG00544.hp1 NA18943.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0175 a0002c0002t0002g0203 a0002c0002t0002g0175 a0002c0002t0002g0203	2	346	0.0058	31	c.546 others(48): Show c.546+4243_546+4244insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	IPMK	ENSG00000151151.6	transcript	ENST00000373935.4	protein_coding	4/5			chr10	TogoVar
IPO11_chr5_62407763_62633582	62598488	C C	CTCTTCTT others(24): Show CTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0301 a0001c0001t0001g0301	1	330	0.0030	31	c.267 others(50): Show c.2679-3273_2679-3272insTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCT	IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	28/29		INFO_REALIGN_3_PRIME	chr5	TogoVar
IPO5_chr13_97948675_98029296	98010780	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	380	0.0026	31	c.205 others(48): Show c.2055+574_2055+575insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	IPO5	ENSG00000065150.21	transcript	ENST00000651721.2	protein_coding	20/28		INFO_REALIGN_3_PRIME	chr13	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02698.hp1 HG02273.hp2 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0201 a0001c0001t0002g0241 a0001c0001t0002g0201 a0001c0001t0002g0241	2	314	0.0064	31	c.85- others(46): Show c.85-5948_85-5947insAAAAAAAAAAAAAAATATATATATATATAT A	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(24): Show AAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0244 a0001c0001t0002g0244	1	314	0.0032	31	c.85- others(46): Show c.85-5948_85-5947insAAAAAAAAAAATATATATATATATATATAT A	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(24): Show AAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0198 a0001c0001t0002g0198	1	314	0.0032	31	c.85- others(46): Show c.85-5948_85-5947insAAAAAAAAATATATATATATATATATATAT A	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(24): Show AAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02809.hp2 NA19240.hp1 HG00642.hp2 HG02809.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0173 a0001c0001t0004g0281 a0001c0001t0004g0285 a0001c0001t0001g0173 a0001c0001t0004g0281 a0001c0001t0004g0285	3	314	0.0096	31	c.85- others(46): Show c.85-5948_85-5947insAAAAAAATATATATATATATATATATATAT A	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAATAT others(24): Show AAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0268 a0001c0001t0003g0268	1	314	0.0032	31	c.85- others(46): Show c.85-5948_85-5947insAAATATATATATATATATATATATATATAT A	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(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	314	0.0032	31	c.226 others(48): Show c.2268+503_2268+504insATATATATATATATATATATATATATAT ATT	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	20/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IQANK1_chr8_143729139_143795645	143747977	T T	TCCCTTTC others(24): Show TCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0010 a0003c0003t0001g0010	1	349	0.0029	31	c.175 others(48): Show c.175+8031_175+8032insCTTTCCCTTTCCCTTTCCCTTTCCCTTT CCC	IQANK1	ENSG00000203499.12	transcript	ENST00000527139.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
IQANK1_chr8_143729139_143795645	143748886	C C	CATATATA others(24): Show CATATATAAATATATAAATATATATATCATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00408.hp2 others(77): Show HG00140.hp2 HG00280.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG01074.hp2 HG01081.hp1 HG01109.hp1 HG01243.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01928.hp1 HG01928.hp2 HG01975.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02135.hp2 HG02145.hp2 HG02165.hp2 HG02257.hp1 HG02293.hp2 HG02922.hp1 HG03490.hp2 HG03704.hp1 HG03834.hp2 HG03942.hp2 HG04228.hp2 HG06807.hp1 NA18747.hp2 NA18943.hp1 NA18944.hp2 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18955.hp2 NA18957.hp1 NA18963.hp2 NA18964.hp2 NA18970.hp1 NA18971.hp1 NA18974.hp2 NA18982.hp2 NA18989.hp2 NA18990.hp1 NA19001.hp2 NA19011.hp1 NA19055.hp2 NA19056.hp1 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp2 NA19081.hp1 NA19082.hp1 NA19085.hp1 NA19087.hp1 NA20805.hp2	a0002 a0005 a0017 others(2): Show a0002 a0005 a0017 a0019 a0032	a0002c0002 a0002c0035 a0005c0005 others(3): Show a0002c0002 a0002c0035 a0005c0005 a0017c0016 a0019c0020 a0032c0034	a0002c0002t0001 a0002c0035t0001 a0005c0005t0001 others(3): Show a0002c0002t0001 a0002c0035t0001 a0005c0005t0001 a0017c0016t0001 a0019c0020t0001 a0032c0034t0001	a0002c0002t0001g0001 a0002c0002t0001g0005 a0002c0002t0001g0006 others(76): Show a0002c0002t0001g0001 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0213 a0002c0002t0001g0249 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0269 a0002c0002t0001g0272 a0002c0002t0001g0273 a0002c0002t0001g0275 a0002c0002t0001g0276 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0001g0279 a0002c0002t0001g0280 a0002c0002t0001g0282 a0002c0002t0001g0289 a0002c0002t0001g0290 a0002c0002t0001g0291 a0002c0002t0001g0292 a0002c0002t0001g0293 a0002c0002t0001g0295 a0002c0002t0001g0296 a0002c0002t0001g0297 a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0001g0303 a0002c0002t0001g0304 a0002c0002t0001g0305 a0002c0002t0001g0306 a0002c0002t0001g0307 a0002c0002t0001g0308 a0002c0002t0001g0309 a0002c0002t0001g0311 a0002c0002t0001g0312 a0002c0002t0001g0313 a0002c0002t0001g0314 a0002c0002t0001g0315 a0002c0002t0001g0316 a0002c0002t0001g0317 a0002c0002t0001g0318 a0002c0002t0001g0324 a0002c0002t0001g0325 a0002c0002t0001g0326 a0002c0002t0001g0327 a0002c0002t0001g0331 a0002c0002t0001g0334 a0002c0002t0001g0335 a0002c0002t0001g0336 a0002c0002t0001g0337 a0002c0002t0001g0340 a0002c0035t0001g0310 a0005c0005t0001g0288 a0005c0005t0001g0323 a0005c0005t0001g0328 a0005c0005t0001g0329 a0005c0005t0001g0333 a0017c0016t0001g0348 a0019c0020t0001g0281 a0019c0020t0001g0294 a0032c0034t0001g0212	80	349	0.2292	31	c.175 others(48): Show c.175+8941_175+8942insTATAAATATATAAATATATATATCATAT ATA	IQANK1	ENSG00000203499.12	transcript	ENST00000527139.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
IQCA1_chr2_236319151_236512476	236491046	G G	GTATATAT others(24): Show GTATATATATATATATATACACAGTATATATA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0002 a0002c0013t0002	a0002c0013t0002g0158 a0002c0013t0002g0158	1	208	0.0048	31	c.456 others(48): Show c.456+2721_456+2722insTATATATACTGTGTATATATATATATAT ATA	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	3/18			chr2	TogoVar
IQCA1_chr2_236319151_236512476	236491142	G G	GTATATAT others(24): Show GTATATATATACACACAGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0196 a0001c0001t0004g0196	1	208	0.0048	31	c.456 others(48): Show c.456+2595_456+2625dupTATATATATATATACTGTGTGTATATAT ATA	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	3/18			chr2	TogoVar

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