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
INAVA_chr1_200889900_200920742	200911109	T T	TAAAAAAG others(19): Show TAAAAAAGTACTTAATGTAGTACTTTA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01884.hp1 HG02055.hp1 others(9): Show HG01361.hp2 HG01884.hp1 HG02055.hp1 HG02717.hp1 HG02723.hp1 HG02818.hp1 HG02896.hp1 HG03195.hp2 HG03225.hp2 HG03486.hp1 HG03516.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0012 a0001c0001t0008g0084 a0001c0001t0008g0087 others(5): Show a0001c0001t0008g0012 a0001c0001t0008g0084 a0001c0001t0008g0087 a0001c0001t0008g0088 a0001c0001t0008g0089 a0001c0001t0008g0133 a0001c0001t0008g0134 a0001c0001t0008g0137	12	424	0.0283	26	c.960 others(41): Show c.960-300_960-275dupAGTACTTTAAAAAAAGTACTTAATGT	INAVA	ENSG00000163362.11	transcript	ENST00000413687.3	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
INAVA_chr1_200889900_200920742	200917808	G G	GCGCTCTC others(19): Show GCGCTCTCTCTCTCTCTCTCTCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0057 a0001c0008t0001g0057	1	424	0.0024	26	c.41 others(37): Show c.4179_*4180insCGCTCTCTCTCTCTCTCTCTCTCTCT	INAVA	ENSG00000163362.11	transcript	ENST00000413687.3	protein_coding		2067		chr1	TogoVar
INAVA_chr1_200889900_200920742	200917808	G G	GCTCTCTC others(19): Show GCTCTCTCTCTCTCTCTCTCTCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0008 a0001c0002t0002g0008	2	424	0.0047	26	c.41 others(37): Show c.4179_*4180insCTCTCTCTCTCTCTCTCTCTCTCTCT	INAVA	ENSG00000163362.11	transcript	ENST00000413687.3	protein_coding		2067		chr1	TogoVar
INAVA_chr1_200889900_200920742	200917847	C C	CTCTATAT others(19): Show CTCTATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG02155.hp2 HG01978.hp1 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0007 a0001c0001t0003 a0001c0002t0007	a0001c0001t0003g0001 a0001c0002t0007g0002 a0001c0001t0003g0001 a0001c0002t0007g0002	2	424	0.0047	26	c.42 others(37): Show c.4218_*4219insTCTATATATATATATATATATATATA	INAVA	ENSG00000163362.11	transcript	ENST00000413687.3	protein_coding		2106		chr1	TogoVar
INAVA_chr1_200889900_200920742	200917847	C C	CTCTCTCT others(19): Show CTCTCTCTATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0083 a0001c0001t0023g0083	1	424	0.0024	26	c.42 others(37): Show c.4218_*4219insTCTCTCTATATATATATATATATATA	INAVA	ENSG00000163362.11	transcript	ENST00000413687.3	protein_coding		2106		chr1	TogoVar
INAVA_chr1_200889900_200920742	200917847	C C	CTCTCTCT others(19): Show CTCTCTCTCTATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG02056.hp1 NA18995.hp1 HG01358.hp1 HG02056.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0009 a0001c0002t0007 a0001c0001t0004 a0001c0001t0009 a0001c0002t0007	a0001c0001t0004g0122 a0001c0001t0009g0138 a0001c0002t0007g0051 a0001c0001t0004g0122 a0001c0001t0009g0138 a0001c0002t0007g0051	3	424	0.0071	26	c.42 others(37): Show c.4218_*4219insTCTCTCTCTATATATATATATATATA	INAVA	ENSG00000163362.11	transcript	ENST00000413687.3	protein_coding		2106		chr1	TogoVar
INAVA_chr1_200889900_200920742	200917847	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0156 a0001c0002t0005g0156	1	424	0.0024	26	c.42 others(37): Show c.4218_*4219insTCTCTCTCTCTATATATATATATATA	INAVA	ENSG00000163362.11	transcript	ENST00000413687.3	protein_coding		2106		chr1	TogoVar
INAVA_chr1_200889900_200920742	200917847	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp2 NA19080.hp2 NA19005.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0005 a0001c0001t0001 a0001c0002t0005	a0001c0001t0001g0006 a0001c0002t0005g0002 a0001c0001t0001g0006 a0001c0002t0005g0002	2	424	0.0047	26	c.42 others(37): Show c.4218_*4219insTCTCTCTCTCTCTATATATATATATA	INAVA	ENSG00000163362.11	transcript	ENST00000413687.3	protein_coding		2106		chr1	TogoVar
INAVA_chr1_200889900_200920742	200917847	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0006 a0004c0006t0006	a0004c0006t0006g0188 a0004c0006t0006g0188	1	424	0.0024	26	c.42 others(37): Show c.4218_*4219insTCTCTCTCTCTCTCTATATATATATA	INAVA	ENSG00000163362.11	transcript	ENST00000413687.3	protein_coding		2106		chr1	TogoVar
INAVA_chr1_200889900_200920742	200917847	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 NA18961.hp1 NA18993.hp2 others(1): Show HG01975.hp2 NA18961.hp1 NA18993.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0002t0005	a0001c0001t0001g0095 a0001c0001t0003g0001 a0001c0001t0010g0155 others(1): Show a0001c0001t0001g0095 a0001c0001t0003g0001 a0001c0001t0010g0155 a0001c0002t0005g0002	4	424	0.0094	26	c.42 others(37): Show c.4218_*4219insTCTCTCTCTCTCTCTCTCTATATATA	INAVA	ENSG00000163362.11	transcript	ENST00000413687.3	protein_coding		2106		chr1	TogoVar
INAVA_chr1_200889900_200920742	200917847	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTCTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01081.hp2 NA18943.hp1 others(1): Show HG00639.hp1 HG01081.hp2 NA18943.hp1 NA18983.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0002 a0001c0002t0005	a0001c0002t0002g0007 a0001c0002t0002g0033 a0001c0002t0002g0127 others(1): Show a0001c0002t0002g0007 a0001c0002t0002g0033 a0001c0002t0002g0127 a0001c0002t0005g0019	4	424	0.0094	26	c.42 others(37): Show c.4218_*4219insTCTCTCTCTCTCTCTCTCTCTATATA	INAVA	ENSG00000163362.11	transcript	ENST00000413687.3	protein_coding		2106		chr1	TogoVar
INAVA_chr1_200889900_200920742	200917847	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTCTCTCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0002 a0001c0002t0005g0002	1	424	0.0024	26	c.42 others(37): Show c.4218_*4219insTCTCTCTCTCTCTCTCTCTCTCTCTA	INAVA	ENSG00000163362.11	transcript	ENST00000413687.3	protein_coding		2106		chr1	TogoVar
INAVA_chr1_200889900_200920742	200917878	T T	TATATATA others(19): Show TATATATATATATATATATATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp1 NA19088.hp1 NA19003.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0003 a0001c0001t0009	a0001c0001t0003g0025 a0001c0001t0009g0014 a0001c0001t0003g0025 a0001c0001t0009g0014	2	424	0.0047	26	c.42 others(37): Show c.4249_*4250insATATATATATATATATATATATATAA	INAVA	ENSG00000163362.11	transcript	ENST00000413687.3	protein_coding		2137		chr1	TogoVar
INA_chr10_103272138_103295346	103278903	G G	GCACACAC others(19): Show GCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	418	0.0024	26	c.106 others(43): Show c.1065+633_1065+658dupACACACACACACACACACACACACAC	INA	ENSG00000148798.11	transcript	ENST00000369849.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
INF2_chr14_104684618_104727535	104726459	T T	TGCTCAGT others(19): Show TGCTCAGTGACCCCTACCTCACAGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0018 a0003c0010t0018	a0003c0010t0018g0053 a0003c0010t0018g0053	1	380	0.0026	26	c.76 others(37): Show c.7666_*7667insGCTCAGTGACCCCTACCTCACAGTGC	INF2	ENSG00000203485.14	transcript	ENST00000392634.9	protein_coding		3925		chr14	TogoVar
INHBA_chr7_41680114_41708090	41700841	A A	AAGAGAGA others(19): Show AAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	374	0.0027	26	c.-14 others(43): Show c.-143-350_-143-325dupCTCTCTCTCTCTCTCTCTCTCTCTCT	INHBA	ENSG00000122641.11	transcript	ENST00000242208.5	protein_coding	1/2			chr7	TogoVar
INKA2_chr1_111717064_111744395	111728038	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0117 a0001c0001t0056g0117	1	434	0.0023	26	c.58- others(39): Show c.58-260_58-235dupGTGTGTGTGTGTGTGTGTGTGTGTGT	INKA2	ENSG00000197852.12	transcript	ENST00000357260.6	protein_coding	1/1			chr1	TogoVar
INKA2_chr1_111717064_111744395	111728070	C C	CACACACA others(19): Show CACACACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01516.hp1 HG02027.hp1 others(11): Show HG00597.hp1 HG01516.hp1 HG02027.hp1 HG02155.hp2 HG03130.hp2 HG03195.hp2 NA18957.hp1 NA18967.hp2 NA19001.hp2 NA19007.hp2 NA19009.hp1 NA19056.hp2 NA19057.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0024 a0001c0001t0033 a0001c0001t0044 a0001c0001t0045 a0001c0001t0107	a0001c0001t0002g0016 a0001c0001t0002g0250 a0001c0001t0002g0260 others(8): Show a0001c0001t0002g0016 a0001c0001t0002g0250 a0001c0001t0002g0260 a0001c0001t0002g0269 a0001c0001t0004g0109 a0001c0001t0009g0203 a0001c0001t0024g0179 a0001c0001t0033g0249 a0001c0001t0044g0188 a0001c0001t0045g0248 a0001c0001t0107g0193	14	434	0.0323	26	c.58- others(39): Show c.58-267_58-266insATGTGTGTGTGTGTGTGTGTGTGTGT	INKA2	ENSG00000197852.12	transcript	ENST00000357260.6	protein_coding	1/1			chr1	TogoVar
INO80D_chr2_205988721_206091174	206010083	A A	ACACACAC others(19): Show ACACACACACACACACACACACACACG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0019 a0001c0008t0019	a0001c0008t0019g0206 a0001c0008t0019g0206	1	334	0.0030	26	c.154 others(43): Show c.1543-290_1543-289insCGTGTGTGTGTGTGTGTGTGTGTGTG	INO80D	ENSG00000114933.16	transcript	ENST00000403263.6	protein_coding	8/10			chr2	TogoVar
INO80D_chr2_205988721_206091174	206075039	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0214 a0001c0004t0011g0214	1	334	0.0030	26	c.-12 others(47): Show c.-124+10861_-124+10862insTTTTTTTTTTTTTTTTTTTTTTTT TT	INO80D	ENSG00000114933.16	transcript	ENST00000403263.6	protein_coding	1/10			chr2	TogoVar
INPP4B_chr4_142018160_142851301	142152066	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02970.hp2 HG03453.hp1 HG02055.hp1 HG02970.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0018 a0001c0001t0004 a0001c0001t0008 a0001c0001t0018	a0001c0001t0004g0041 a0001c0001t0008g0056 a0001c0001t0018g0008 a0001c0001t0004g0041 a0001c0001t0008g0056 a0001c0001t0018g0008	3	90	0.0333	26	c.156 others(45): Show c.1564-6096_1564-6071dupAAAAAAAAAAAAAAAAAAAAAAAAAA	INPP4B	ENSG00000109452.13	transcript	ENST00000262992.9	protein_coding	17/25			chr4	TogoVar
INPP4B_chr4_142018160_142851301	142263680	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0076 a0001c0001t0014g0076	1	90	0.0111	26	c.616 others(43): Show c.616-3117_616-3116insCATATATATATATATATATATATATA	INPP4B	ENSG00000109452.13	transcript	ENST00000262992.9	protein_coding	10/25			chr4	TogoVar
INPP4B_chr4_142018160_142851301	142268322	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02970.hp2 NA19070.hp2 HG02630.hp1 HG02970.hp2 NA19070.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0013 a0001c0001 a0002c0013	a0001c0001t0002 a0001c0001t0004 a0002c0013t0001 a0001c0001t0002 a0001c0001t0004 a0002c0013t0001	a0001c0001t0002g0028 a0001c0001t0004g0041 a0002c0013t0001g0005 a0001c0001t0002g0028 a0001c0001t0004g0041 a0002c0013t0001g0005	3	90	0.0333	26	c.615 others(43): Show c.615+2340_615+2341insTTTTTTTTTTTTTTTTTTTTTTTTTT	INPP4B	ENSG00000109452.13	transcript	ENST00000262992.9	protein_coding	10/25			chr4	TogoVar
INPP4B_chr4_142018160_142851301	142537429	T T	TATATATA others(19): Show TATATATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	90	0.0111	26	c.-19 others(47): Show c.-190-74704_-190-74703insCTCTCTCTCTATATATATATATAT AT	INPP4B	ENSG00000109452.13	transcript	ENST00000262992.9	protein_coding	2/25			chr4	TogoVar
INPP4B_chr4_142018160_142851301	142537429	T T	TATATATA others(19): Show TATATATATATATATATATATATATAG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	1	90	0.0111	26	c.-19 others(47): Show c.-190-74704_-190-74703insCTATATATATATATATATATATAT AT	INPP4B	ENSG00000109452.13	transcript	ENST00000262992.9	protein_coding	2/25			chr4	TogoVar
INPP4B_chr4_142018160_142851301	142545709	G G	GTGTGTGT others(19): Show GTGTGTGTATATGTGTGTATATACACA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0088 a0001c0001t0004g0088	1	90	0.0111	26	c.-19 others(47): Show c.-190-83009_-190-82984dupTGTGTATATACACACATATACACA CA	INPP4B	ENSG00000109452.13	transcript	ENST00000262992.9	protein_coding	2/25			chr4	TogoVar
INPP4B_chr4_142018160_142851301	142545739	A A	ATGTGTAT others(19): Show ATGTGTATATATATACACACGTATATG	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA18906.hp2 NA19043.hp2 HG02630.hp1 NA18906.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0028 a0001c0001t0002g0048 a0001c0001t0006g0047 a0001c0001t0002g0028 a0001c0001t0002g0048 a0001c0001t0006g0047	3	90	0.0333	26	c.-19 others(47): Show c.-190-83014_-190-83013insCATATACGTGTGTATATATATACA CA	INPP4B	ENSG00000109452.13	transcript	ENST00000262992.9	protein_coding	2/25			chr4	TogoVar
INPP4B_chr4_142018160_142851301	142545759	G G	GTATATGT others(19): Show GTATATGTGTGTATATATATACACATA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02922.hp1 HG03041.hp1 HG02895.hp1 HG02922.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0015 a0001c0001t0001 a0001c0001t0004 a0001c0001t0015	a0001c0001t0001g0022 a0001c0001t0004g0086 a0001c0001t0015g0025 a0001c0001t0001g0022 a0001c0001t0004g0086 a0001c0001t0015g0025	3	90	0.0333	26	c.-19 others(47): Show c.-190-83059_-190-83034dupTATGTGTATATATATACACACATA TA	INPP4B	ENSG00000109452.13	transcript	ENST00000262992.9	protein_coding	2/25			chr4	TogoVar
INPP4B_chr4_142018160_142851301	142545804	T T	TACACATA others(19): Show TACACATATATATGTGTGTATATATAC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0026 a0001c0005t0001g0026	1	90	0.0111	26	c.-19 others(47): Show c.-190-83079_-190-83078insGTATATATACACACATATATATGT GT	INPP4B	ENSG00000109452.13	transcript	ENST00000262992.9	protein_coding	2/25			chr4	TogoVar
INPP4B_chr4_142018160_142851301	142564451	A A	AAGAAAGA others(19): Show AAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0051 a0001c0006t0006g0051	1	90	0.0111	26	c.-19 others(49): Show c.-190-101726_-190-101725insCTTTCTTTCTTTCTTTCTTTCT TTCT	INPP4B	ENSG00000109452.13	transcript	ENST00000262992.9	protein_coding	2/25			chr4	TogoVar
INPP4B_chr4_142018160_142851301	142824314	A A	ATCTATCT others(19): Show ATCTATCTATCTATCTCTATCTCTATC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0005 a0001c0015t0005	a0001c0015t0005g0033 a0001c0015t0005g0033	1	90	0.0111	26	c.-25 others(47): Show c.-254+21894_-254+21895insGATAGAGATAGAGATAGATAGATA GA	INPP4B	ENSG00000109452.13	transcript	ENST00000262992.9	protein_coding	1/25			chr4	TogoVar
INPP5A_chr10_132532787_132788480	132578570	T T	TCAGGAGA others(19): Show TCAGGAGAGTGTGCGGGGAGTCTCATC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	204	0.0049	26	c.76- others(43): Show c.76-29328_76-29327insAGTCTCATCCAGGAGAGTGTGCGGGG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5B_chr1_37855697_37952053	37917308	T T	TTATATAC others(19): Show TTATATACATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	346	0.0029	26	c.532 others(45): Show c.532+14604_532+14605insTATATATATATATATATATGTATATA	INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	7/23			chr1	TogoVar
INPP5B_chr1_37855697_37952053	37917308	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00621.hp1 HG00741.hp1 others(5): Show HG00597.hp2 HG00621.hp1 HG00741.hp1 HG02080.hp1 HG02300.hp1 NA18612.hp1 NA18971.hp1 NA19087.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0001 a0005c0007t0001 a0001c0001t0001 a0005c0007t0001	a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0139 others(5): Show a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0139 a0001c0001t0001g0149 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0177 a0005c0007t0001g0300	8	346	0.0231	26	c.532 others(45): Show c.532+14579_532+14604dupTATATATATATATATATATATATATA	INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	7/23			chr1	TogoVar
INPP5B_chr1_37855697_37952053	37941952	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	346	0.0029	26	c.281 others(43): Show c.281-1155_281-1154insATATATATATATATATATATATATAT	INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	5/23			chr1	TogoVar
INPP5B_chr1_37855697_37952053	37941958	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG03831.hp2 HG01167.hp2 HG03831.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0003c0004 a0002c0003 a0003c0004	a0002c0003t0003 a0003c0004t0004 a0002c0003t0003 a0003c0004t0004	a0002c0003t0003g0280 a0003c0004t0004g0016 a0002c0003t0003g0280 a0003c0004t0004g0016	2	346	0.0058	26	c.281 others(43): Show c.281-1161_281-1160insATATATATATATATTTTTTTTTTTTT	INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	5/23			chr1	TogoVar
INPP5B_chr1_37855697_37952053	37941958	A A	AAAAAAAA others(19): Show AAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	346	0.0029	26	c.281 others(43): Show c.281-1161_281-1160insATATATATATATATATTTTTTTTTTT	INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	5/23			chr1	TogoVar
INPP5B_chr1_37855697_37952053	37941958	A A	AAAAAAAA others(19): Show AAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA18522.hp2 HG01884.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0032 a0001c0001t0005g0033 a0001c0001t0001g0032 a0001c0001t0005g0033	2	346	0.0058	26	c.281 others(43): Show c.281-1161_281-1160insATATATATATATATATATTTTTTTTT	INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	5/23			chr1	TogoVar
INPP5B_chr1_37855697_37952053	37941958	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0026 a0001c0001t0027g0026	1	346	0.0029	26	c.281 others(43): Show c.281-1161_281-1160insATATATATATATATATATATATATAT	INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	5/23			chr1	TogoVar
INPP5D_chr2_233055342_233212903	233116248	G G	GATAGATA others(19): Show GATAGATAGATAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02257.hp1 HG02717.hp1 others(2): Show HG02040.hp2 HG02257.hp1 HG02717.hp1 HG03195.hp2 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0008	a0001c0001t0005 a0001c0003t0001 a0002c0002t0003 others(1): Show a0001c0001t0005 a0001c0003t0001 a0002c0002t0003 a0002c0008t0003	a0001c0001t0005g0024 a0001c0003t0001g0091 a0002c0002t0003g0174 others(2): Show a0001c0001t0005g0024 a0001c0003t0001g0091 a0002c0002t0003g0174 a0002c0002t0003g0202 a0002c0008t0003g0192	5	310	0.0161	26	c.199 others(43): Show c.199-5852_199-5851insGATAGATAGATAGATAGATATAGATA	INPP5D	ENSG00000168918.14	transcript	ENST00000445964.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
INSC_chr11_15109923_15252208	15113143	T T	TTCTTTCT others(19): Show TTCTTTCTTTCTTTCTTTCTTTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp2 NA19009.hp2 others(1): Show HG00639.hp1 HG00639.hp2 NA19009.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0013 a0001c0001 a0001c0002 a0001c0013	a0001c0001t0002 a0001c0001t0003 a0001c0002t0004 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0004 a0001c0013t0017	a0001c0001t0002g0120 a0001c0001t0003g0065 a0001c0002t0004g0141 others(1): Show a0001c0001t0002g0120 a0001c0001t0003g0065 a0001c0002t0004g0141 a0001c0013t0017g0044	4	270	0.0148	26	c.-19 others(37): Show c.-1906_-1905insTCTTTCTTTCTTTCTTTCTTTCTCTC	INSC	ENSG00000188487.12	transcript	ENST00000379556.8	protein_coding		1779		chr11	TogoVar
INSC_chr11_15109923_15252208	15116855	C C	CTTTCTTT others(19): Show CTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	270	0.0037	26	c.-46 others(43): Show c.-46+1853_-46+1854insTTCTTTCTTTCTTTCTTTCTTTCTTT	INSC	ENSG00000188487.12	transcript	ENST00000379556.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
INSC_chr11_15109923_15252208	15229964	A A	ATATATAA others(19): Show ATATATAATATTATATATATATAATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02895.hp1 HG01884.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0058 a0001c0001t0005g0224 a0001c0001t0003g0058 a0001c0001t0005g0224	2	270	0.0074	26	c.117 others(45): Show c.1170+4142_1170+4143insATATTATATATATATAATATTATATA	INSC	ENSG00000188487.12	transcript	ENST00000379556.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
INSC_chr11_15109923_15252208	15247733	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0146 a0001c0002t0004g0146	1	270	0.0037	26	c.16 others(37): Show c.1693_*1694insTATATATATATATATATATATATATA	INSC	ENSG00000188487.12	transcript	ENST00000379556.8	protein_coding		526		chr11	TogoVar
INSR_chr19_7107265_7299414	7136828	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0002 a0001c0025t0002	a0001c0025t0002g0024 a0001c0025t0002g0024	1	300	0.0033	26	c.268 others(45): Show c.2683-4512_2683-4511insATATATATATATATATATATATATAT	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	13/21			chr19	TogoVar
INSR_chr19_7107265_7299414	7197514	G G	GGTGTGTG others(19): Show GGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0049 a0001c0002t0049	a0001c0002t0049g0034 a0001c0002t0049g0034	1	300	0.0033	26	c.653 others(45): Show c.653-12878_653-12877insACACACACACACACACACACACACAC	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	2/21			chr19	TogoVar
INTS14_chr15_65573757_65616131	65613480	T T	TTGTGTGT others(19): Show TTGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0109 a0001c0001t0012g0109	1	322	0.0031	26	c.-24 others(37): Show c.-2446_-2445insCACACACACACACACACACACACACA	INTS14	ENSG00000138614.16	transcript	ENST00000313182.7	protein_coding		2350		chr15	TogoVar
INTS1_chr7_1465277_1509389	1506697	C C	CCCTCCTC others(19): Show CCCTCCTCCCCTCCTCCCCCTCCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	316	0.0032	26	c.-24 others(37): Show c.-2417_-2416insAGGAGGAGGGGGAGGAGGGGAGGAGG	INTS1	ENSG00000164880.16	transcript	ENST00000404767.8	protein_coding		2309		chr7	TogoVar
INTS4_chr11_77873720_77999668	77920232	C C	CACATATA others(19): Show CACATATATATACACATATACATACAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp2 HG02602.hp2 others(14): Show HG02055.hp2 HG02109.hp2 HG02602.hp2 HG02630.hp1 HG02647.hp2 HG02723.hp2 HG02965.hp1 HG02976.hp2 HG03471.hp1 HG03540.hp2 HG03654.hp2 NA18959.hp2 NA18963.hp1 NA18965.hp1 NA18975.hp1 NA18994.hp1 NA19030.hp1	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0002 a0004c0010 a0006c0009 a0001c0002 a0004c0010 a0006c0009	a0001c0002t0001 a0004c0010t0001 a0006c0009t0001 a0001c0002t0001 a0004c0010t0001 a0006c0009t0001	a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0104 others(14): Show a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0177 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0300 a0001c0002t0001g0301 a0004c0010t0001g0109 a0006c0009t0001g0250	17	362	0.0470	26	c.176 others(45): Show c.1764+1107_1764+1108insATGTATGTATATGTGTATATATATGT	INTS4	ENSG00000149262.19	transcript	ENST00000534064.6	protein_coding	14/22			chr11	TogoVar
INTS4_chr11_77873720_77999668	77920242	T T	TACACATA others(19): Show TACACATATATATACACATATACATAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03041.hp1 HG02451.hp2 HG03041.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0254 a0001c0004t0001g0255 a0001c0004t0001g0254 a0001c0004t0001g0255	2	362	0.0055	26	c.176 others(45): Show c.1764+1097_1764+1098insGTATGTATATGTGTATATATATGTGT	INTS4	ENSG00000149262.19	transcript	ENST00000534064.6	protein_coding	14/22			chr11	TogoVar

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