Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DDX42_chr17_63769170_63824317	63771033	G G	GAAGAAAG others(29): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0167 a0001c0001t0006g0167	1	332	0.0030	36	c.-33 others(47): Show c.-3360_-3359insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GA	DDX42	ENSG00000198231.14	transcript	ENST00000389924.7	protein_coding		3136		chr17	TogoVar
DDX42_chr17_63769170_63824317	63771045	G G	GAAGGAAG others(29): Show GAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA21309.hp1 NA18522.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0110 a0001c0001t0001g0111	2	332	0.0060	36	c.-33 others(47): Show c.-3348_-3347insAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GA	DDX42	ENSG00000198231.14	transcript	ENST00000389924.7	protein_coding		3124		chr17	TogoVar
DDX42_chr17_63769170_63824317	63771045	G G	GAAGGAAG others(29): Show GAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	332	0.0030	36	c.-33 others(47): Show c.-3348_-3347insAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAA GA	DDX42	ENSG00000198231.14	transcript	ENST00000389924.7	protein_coding		3124		chr17	TogoVar
DDX50_chr10_68896315_68951847	68931426	T T	TATATGTA others(29): Show TATATGTATATATATATATACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18971.hp2 NA19002.hp2 NA18947.hp1 NA18971.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0013t0001 a0001c0001t0001 a0001c0013t0001	a0001c0001t0001g0031 a0001c0001t0001g0081 a0001c0013t0001g0062 a0001c0001t0001g0031 a0001c0001t0001g0081 a0001c0013t0001g0062	3	334	0.0090	36	c.124 others(55): Show c.1240-2772_1240-2771insTATGTATATATATATATACACACACA CACACACACA	DDX50	ENSG00000107625.14	transcript	ENST00000373585.8	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
DDX51_chr12_132131594_132149319	132134628	C C	CCGGTGCC others(29): Show CCGGTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0006 a0003c0006t0006	a0003c0006t0006g0020 a0003c0006t0006g0020	1	334	0.0030	36	c.46 others(47): Show c.4643_*4644insTGGGCACACTCGGGGAGGTGGGAGGAGTGGGCAC CG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1965		chr12	TogoVar
DDX51_chr12_132131594_132149319	132135003	C C	CCCCGAGT others(29): Show CCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp2 NA18952.hp1 NA19011.hp2 NA18943.hp2 NA18952.hp1 NA19011.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0003c0003 a0007c0008 a0001c0001 a0003c0003 a0007c0008	a0001c0001t0001 a0003c0003t0009 a0007c0008t0025 a0001c0001t0001 a0003c0003t0009 a0007c0008t0025	a0001c0001t0001g0058 a0003c0003t0009g0011 a0007c0008t0025g0083 a0001c0001t0001g0058 a0003c0003t0009g0011 a0007c0008t0025g0083	3	334	0.0090	36	c.42 others(47): Show c.4268_*4269insAGGTGGGAGGTAGCGGGCACCGTGGGCACACTCG GG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1590		chr12	TogoVar
DDX51_chr12_132131594_132149319	132135895	C C	CCGGTGCC others(29): Show CCGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG01175.hp2 HG00733.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	334	0.0060	36	c.33 others(47): Show c.3376_*3377insTGGGCACACTCGGGGAGGTGGGAGGAGCGGGCAC CG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		698		chr12	TogoVar
DDX51_chr12_132131594_132149319	132136212	C C	CACGGTGC others(29): Show CACGGTGCCCCTCCTCCCACCTCCCCGAGTGTGCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0018 a0002c0018t0018	a0002c0018t0018g0027 a0002c0018t0018g0027	1	334	0.0030	36	c.30 others(47): Show c.3059_*3060insTGGGCACACTCGGGGAGGTGGGAGGAGGGGCACC GT	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		381		chr12	TogoVar
DDX51_chr12_132131594_132149319	132136233	T T	TCCCGAGT others(29): Show TCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00609.hp1 HG00621.hp1 others(51): Show HG00408.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG01081.hp2 HG01123.hp2 HG01884.hp1 HG01928.hp2 HG01952.hp2 HG01981.hp1 HG02004.hp1 HG02015.hp1 HG02074.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02523.hp2 HG03492.hp1 HG03942.hp2 NA18747.hp1 NA18945.hp1 NA18947.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18960.hp2 NA18964.hp2 NA18966.hp2 NA18971.hp2 NA18991.hp2 NA18993.hp2 NA18998.hp2 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19056.hp1 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19077.hp1 NA19077.hp2 NA19083.hp1 NA19086.hp2 NA19089.hp1 NA20300.hp1	a0001 a0003 a0007 others(2): Show a0001 a0003 a0007 a0016 a0017	a0001c0001 a0003c0003 a0007c0008 others(2): Show a0001c0001 a0003c0003 a0007c0008 a0016c0028 a0017c0027	a0001c0001t0001 a0001c0001t0016 a0001c0001t0024 others(8): Show a0001c0001t0001 a0001c0001t0016 a0001c0001t0024 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0003c0003t0001 a0007c0008t0001 a0007c0008t0025 a0016c0028t0001 a0017c0027t0001	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0040 others(12): Show a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0040 a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0016g0028 a0001c0001t0024g0061 a0001c0001t0027g0063 a0001c0001t0028g0064 a0001c0001t0030g0065 a0003c0003t0001g0002 a0007c0008t0001g0010 a0007c0008t0025g0083 a0016c0028t0001g0068 a0017c0027t0001g0067	54	334	0.1617	36	c.30 others(47): Show c.3038_*3039insGAGGTGGGAGGAGCGGGCACCGTGGGCACACTCG GG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		360		chr12	TogoVar
DDX51_chr12_132131594_132149319	132136305	T T	TCCCGAGT others(29): Show TCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG03195.hp1 HG01175.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	334	0.0060	36	c.29 others(47): Show c.2966_*2967insGAGGTGGGAGGAGCGGGCACCGTGGGCACACTCG GG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		288		chr12	TogoVar
DDX51_chr12_132131594_132149319	132136340	T T	TCCCCGAG others(29): Show TCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	334	0.0030	36	c.29 others(47): Show c.2931_*2932insAGGTGGGAGGAGCGGGCACCGTGGGCACACTCGG GG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		253		chr12	TogoVar
DDX60L_chr4_168351735_168485492	168459774	G G	GGGAAGGA others(29): Show GGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0012 a0012	a0012c0021 a0012c0021	a0012c0021t0001 a0012c0021t0001	a0012c0021t0001g0094 a0012c0021t0001g0094	1	268	0.0037	36	c.607 others(53): Show c.607-1802_607-1767dupTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCC	DDX60L	ENSG00000181381.15	transcript	ENST00000682922.1	protein_coding	5/37			chr4	TogoVar
DECR1_chr8_89996477_90058633	90005883	G G	GGGGTGTT others(29): Show GGGGTGTTGGGAGGTGCCGGCAAGAGAGGAAGTGAGA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	378	0.0027	36	c.69+ others(51): Show c.69+4376_69+4411dupGGCAAGAGAGGAAGTGAGAGGGTGTTGGGA GGTGCC	DECR1	ENSG00000104325.7	transcript	ENST00000220764.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr8	TogoVar
DEFA3_chr8_7010869_7023297	7012465	T T	TTTTCTTT others(29): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	430	0.0023	36	c.35 others(47): Show c.3524_*3525insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AA	DEFA3	ENSG00000239839.7	transcript	ENST00000327857.7	protein_coding		3403		chr8	TogoVar
DEFB103A_chr8_7876392_7887663	7885121	A A	AGATAGAG others(29): Show AGATAGAGCTAGGAAGAATGGCCTATGTTTTCAGAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	170	0.0059	36	c.25 others(47): Show c.2553_*2554insGATAGAGCTAGGAAGAATGGCCTATGTTTTCAGA AT	DEFB103A	ENSG00000176797.4	transcript	ENST00000314357.4	protein_coding		2459		chr8	TogoVar
DEFB105A_chr8_7816004_7828880	7827302	A A	AATACACT others(29): Show AATACACTAGTATATAGTATAGTGTATATACTAGTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0005 a0003c0003t0004g0005	1	146	0.0069	36	c.-35 others(47): Show c.-3500_-3465dupATACTAGTATATACACTATACTATATACTAGTGT AT	DEFB105A	ENSG00000186562.8	transcript	ENST00000334773.7	protein_coding		3423		chr8	TogoVar
DEFB105B_chr8_7482679_7494593	7484266	A A	ATACACTA others(29): Show ATACACTATACTATATACTAGTGTATTATACTAGTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0017 a0003c0004t0001g0017	1	136	0.0074	36	c.-34 others(47): Show c.-3455_-3454insTACACTATACTATATACTAGTGTATTATACTAGT AT	DEFB105B	ENSG00000186599.8	transcript	ENST00000335510.7	protein_coding		3412		chr8	TogoVar
DEFB106A_chr8_7820139_7834053	7827302	A A	AATACACT others(29): Show AATACACTAGTATATAGTATAGTGTATATACTAGTAT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	160	0.0063	36	c.50- others(51): Show c.50-1501_50-1466dupTACACTAGTATATAGTATAGTGTATATACT AGTATA	DEFB106A	ENSG00000186579.3	transcript	ENST00000335186.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
DEFB106B_chr8_7477504_7491400	7484059	A A	ATATGATA others(29): Show ATATGATACTTATAATATCTACCCAGTATAATACTAG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	180	0.0056	36	c.50- others(51): Show c.50-1308_50-1307insCTAGTATTATACTGGGTAGATATTATAAGT ATCATA	DEFB106B	ENSG00000187082.2	transcript	ENST00000335479.2	protein_coding	1/1			chr8	TogoVar
DEFB106B_chr8_7477504_7491400	7484266	A A	ATACACTA others(29): Show ATACACTATACTATATACTAGTGTATTATACTAGTAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00609.hp1 HG00733.hp2 others(3): Show HG00558.hp1 HG00609.hp1 HG00733.hp2 NA18980.hp1 NA18999.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0037 a0001c0001t0001g0053 others(1): Show a0001c0001t0001g0011 a0001c0001t0001g0037 a0001c0001t0001g0053 a0001c0001t0001g0055	6	180	0.0333	36	c.50- others(51): Show c.50-1515_50-1514insATACTAGTATAATACACTAGTATATAGTAT AGTGTA	DEFB106B	ENSG00000187082.2	transcript	ENST00000335479.2	protein_coding	1/1			chr8	TogoVar
DEFB106B_chr8_7477504_7491400	7484294	A A	ATACTAGT others(29): Show ATACTAGTATATACACTATACTGTATACTAGTGTATG	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	180	0.0056	36	c.50- others(51): Show c.50-1578_50-1543dupCATACACTAGTATACAGTATAGTGTATATA CTAGTA	DEFB106B	ENSG00000187082.2	transcript	ENST00000335479.2	protein_coding	1/1			chr8	TogoVar
DEFB123_chr20_31435632_31455257	31450533	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 NA20805.hp1 HG00733.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	372	0.0054	36	c.35 others(45): Show c.359_*360insATATATATATATATATATATATATATATATATATTA	DEFB123	ENSG00000180424.7	transcript	ENST00000376309.4	protein_coding		277		chr20	TogoVar
DEFB124_chr20_31460471_31480127	31466606	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02523.hp2 HG03139.hp2 others(2): Show HG02280.hp2 HG02523.hp2 HG03139.hp2 NA18522.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0098 a0001c0001t0002g0102 others(2): Show a0001c0001t0002g0092 a0001c0001t0002g0098 a0001c0001t0002g0102 a0001c0001t0002g0123 a0001c0001t0002g0134	5	362	0.0138	36	c.59- others(49): Show c.59-944_59-943insATATATATATATATATATATATATATATATAT ATAT	DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding	2/2			chr20	TogoVar
DENND1A_chr9_123374658_123935126	123485617	A A	ACCGTGTG others(29): Show ACCGTGTGTGTGTGTGCGCCCGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0099 a0001c0002t0004g0099	1	162	0.0062	36	c.994 others(55): Show c.994-27721_994-27720insGCGCACACACACACACGGGCGCACAC ACACACACGG	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	13/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123495141	T T	TTCTCTCT others(29): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	162	0.0062	36	c.994 others(55): Show c.994-37245_994-37244insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGA	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	13/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123552018	C C	CGAGAGAG others(29): Show CGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0017 a0001c0002t0020g0017	1	162	0.0062	36	c.993 others(53): Show c.993+5551_993+5552insTCTCTCTCTCTCTCTCTGTCTCTCTCTC TCTCTCTC	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	13/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123711499	A A	ATGTATAT others(29): Show ATGTATATATGTATATATATATATATATGTATATATG	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02165.hp1 HG01981.hp2 HG02165.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0088 a0001c0002t0004g0112 a0001c0002t0004g0088 a0001c0002t0004g0112	2	162	0.0124	36	c.303 others(55): Show c.303-34711_303-34710insCATATATACATATATATATATATATA CATATATACA	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	5/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123711501	A A	ATGTATAT others(29): Show ATGTATATATGTATATATATATATATATGTATATATG	intron_variant intron_variant	MODIFIER	HG01168.hp1 NA20752.hp1 HG01168.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0095 a0001c0002t0002g0146 a0001c0002t0001g0095 a0001c0002t0002g0146	2	162	0.0124	36	c.303 others(55): Show c.303-34713_303-34712insCATATATACATATATATATATATATA CATATATACA	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	5/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123740899	T T	TGAGAGAG others(29): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0010 a0001c0001t0004g0010	1	162	0.0062	36	c.302 others(55): Show c.302+16768_302+16803dupTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTC	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	5/23			chr9	TogoVar
DENND1B_chr1_197499748_197780480	197713793	T T	TATTATAT others(29): Show TATTATATATAATATATTTTATTATAATATATTATAA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0014 a0001c0001t0035g0014	1	280	0.0036	36	c.126 others(53): Show c.126+1237_126+1238insTTATAATATATTATAATAAAATATATTA TATATAAT	DENND1B	ENSG00000213047.13	transcript	ENST00000620048.6	protein_coding	3/22			chr1	TogoVar
DENND2B_chr11_8688352_8815674	8734594	C C	CCTGCGTA others(29): Show CCTGCGTAAATCTAACTTTCTTCCCACAACACTTTCT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0296 a0001c0001t0002g0296	1	352	0.0028	36	c.81- others(51): Show c.81-3386_81-3385insAGAAAGTGTTGTGGGAAGAAAGTTAGATTT ACGCAG	DENND2B	ENSG00000166444.19	transcript	ENST00000313726.11	protein_coding	2/19			chr11	TogoVar
DENND2B_chr11_8688352_8815674	8771566	A A	AGAGAGAG others(29): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01884.hp1 HG02280.hp2 others(3): Show HG00544.hp1 HG01884.hp1 HG02280.hp2 HG03041.hp1 NA18961.hp1 NA18983.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0001 a0003c0002t0001 a0001c0001t0001 a0003c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0232 a0001c0001t0001g0233 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0237 a0001c0001t0001g0253 a0003c0002t0001g0256	6	352	0.0171	36	c.-25 others(55): Show c.-25-20842_-25-20841insGCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTC	DENND2B	ENSG00000166444.19	transcript	ENST00000313726.11	protein_coding	1/19			chr11	TogoVar
DENND4A_chr15_65654123_65797293	65676141	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0066 a0001c0001t0008g0066	1	304	0.0033	36	c.436 others(53): Show c.4369+303_4369+304insATATATATATATATATATATATATATAT ATATATAT	DENND4A	ENSG00000174485.16	transcript	ENST00000443035.8	protein_coding	24/32			chr15	TogoVar
DENND4A_chr15_65654123_65797293	65720947	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA18977.hp1 HG03540.hp2 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0017 a0001c0002t0001 a0001c0001t0017 a0001c0002t0001	a0001c0001t0017g0157 a0001c0002t0001g0251 a0001c0001t0017g0157 a0001c0002t0001g0251	2	304	0.0066	36	c.158 others(55): Show c.1588+1900_1588+1901insTATATATATATATATATATATATATA TATATATATA	DENND4A	ENSG00000174485.16	transcript	ENST00000443035.8	protein_coding	12/32			chr15	TogoVar
DENND4A_chr15_65654123_65797293	65720947	T T	TTTTATAT others(29): Show TTTTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0104 a0001c0001t0005g0104	1	304	0.0033	36	c.158 others(55): Show c.1588+1900_1588+1901insTATATATATATATATATATATATATA TATATATAAA	DENND4A	ENSG00000174485.16	transcript	ENST00000443035.8	protein_coding	12/32			chr15	TogoVar
DENND4C_chr9_19225693_19379281	19238611	T T	TCCTCCCC others(29): Show TCCTCCCCTCCCCTCCCCCTCCTCCCCTCCCCTCCCC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0025 a0025	a0025c0031 a0025c0031	a0025c0031t0002 a0025c0031t0002	a0025c0031t0002g0078 a0025c0031t0002g0078	1	292	0.0034	36	c.-18 others(53): Show c.-18+7782_-18+7783insCCCTCCCCTCCCCCTCCTCCCCTCCCCT CCCCCCTC	DENND4C	ENSG00000137145.21	transcript	ENST00000434457.7	protein_coding	1/32		INFO_REALIGN_3_PRIME	chr9	TogoVar
DENND5A_chr11_9133825_9270350	9199059	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAAAAAAAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03209.hp1 HG03195.hp2 HG03209.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0035 a0001c0004t0003g0201 a0001c0004t0003g0035 a0001c0004t0003g0201	2	284	0.0070	36	c.949 others(53): Show c.949+4600_949+4601insATTATTATTATTATTTTTTTTTTTTTTT TTTTTTTT	DENND5A	ENSG00000184014.9	transcript	ENST00000328194.8	protein_coding	4/22			chr11	TogoVar
DENND6A_chr3_57620454_57698077	57644752	A A	AGGGGAGG others(29): Show AGGGGAGGGGAGGGGGTGGGGAGGGGAGGGGAGGGGT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0153 a0001c0001t0012g0153	1	332	0.0030	36	c.103 others(53): Show c.1037+908_1037+909insACCCCTCCCCTCCCCTCCCCACCCCCTC CCCTCCCC	DENND6A	ENSG00000174839.13	transcript	ENST00000311128.10	protein_coding	11/19			chr3	TogoVar
DENND6A_chr3_57620454_57698077	57644799	G G	GGGTGGGG others(29): Show GGGTGGGGAGGGGAGGGGAGGGGGTGGGGAGGGGAGC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0136 a0001c0001t0004g0136	1	332	0.0030	36	c.103 others(53): Show c.1037+861_1037+862insGCTCCCCTCCCCACCCCCTCCCCTCCCC TCCCCACC	DENND6A	ENSG00000174839.13	transcript	ENST00000311128.10	protein_coding	11/19			chr3	TogoVar
DENND6A_chr3_57620454_57698077	57644799	G G	GGGTGGGG others(29): Show GGGTGGGGGAGGGGAGGGGAGGGGTGGGGAGGGGAGC	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0147 a0001c0001t0004g0147	1	332	0.0030	36	c.103 others(53): Show c.1037+861_1037+862insGCTCCCCTCCCCACCCCTCCCCTCCCCT CCCCCACC	DENND6A	ENSG00000174839.13	transcript	ENST00000311128.10	protein_coding	11/19			chr3	TogoVar
DENND6B_chr22_50304030_50332012	50307773	G G	GGAGGGGG others(29): Show GGAGGGGGGAGGGGAGGGGGAAGAGGGGGAGGGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0014 a0001c0006t0014	a0001c0006t0014g0271 a0001c0006t0014g0271	1	326	0.0031	36	c.43 others(47): Show c.4365_*4366insTTCCCCCTCCCCCTCTTCCCCCTCCCCTCCCCCC TC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding		1256		chr22	TogoVar
DENND6B_chr22_50304030_50332012	50307773	G G	GGAGGGGG others(29): Show GGAGGGGGGAGGGGAGGGGGAAGAGGGGGAGGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0027 a0001c0010t0027	a0001c0010t0027g0322 a0001c0010t0027g0322	1	326	0.0031	36	c.43 others(47): Show c.4365_*4366insTCCCCCCTCCCCCTCTTCCCCCTCCCCTCCCCCC TC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding		1256		chr22	TogoVar
DENND6B_chr22_50304030_50332012	50307832	A A	AAGAGGGG others(29): Show AAGAGGGGGAGGGGGAGAGGGGGAGGGGGAAGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	326	0.0031	36	c.43 others(47): Show c.4306_*4307insCCCCTCTTCCCCCTCCCCCTCTCCCCCTCCCCCT CT	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding		1197		chr22	TogoVar
DENND6B_chr22_50304030_50332012	50312679	C C	CGGGGGCC others(29): Show CGGGGGCCATGGGGCTGACCCTAGGGATTGACAGGTG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0007 a0003c0007t0007	a0003c0007t0007g0018 a0003c0007t0007g0018	1	326	0.0031	36	c.145 others(51): Show c.1458-55_1458-54insCACCTGTCAATCCCTAGGGTCAGCCCCATG GCCCCC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	17/19			chr22	TogoVar
DENND6B_chr22_50304030_50332012	50312700	T T	TGGGATTG others(29): Show TGGGATTGACAGGCGGGGGGCCATGGGGCTGACCCTG	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0174 a0001c0006t0004g0174	1	326	0.0031	36	c.145 others(51): Show c.1458-76_1458-75insCAGGGTCAGCCCCATGGCCCCCCGCCTGTC AATCCC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	17/19			chr22	TogoVar
DENND6B_chr22_50304030_50332012	50312801	C C	CTGACCCT others(29): Show CTGACCCTGGGGATTGACAGGCGGGGGGCCATGGGGA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0255 a0002c0002t0015g0255	1	326	0.0031	36	c.145 others(53): Show c.1458-177_1458-176insTCCCCATGGCCCCCCGCCTGTCAATCCC CAGGGTCA	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	17/19			chr22	TogoVar
DENND6B_chr22_50304030_50332012	50312817	A A	ACAGGCGG others(29): Show ACAGGCGGGGGGCCATGGGGCTGACCCTGGGGATTGG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0007 a0003c0007t0007	a0003c0007t0007g0018 a0003c0007t0007g0018	1	326	0.0031	36	c.145 others(53): Show c.1457+181_1457+182insCCAATCCCCAGGGTCAGCCCCATGGCCC CCCGCCTG	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	17/19			chr22	TogoVar
DEPDC1B_chr5_60591912_60705166	60699443	G G	GAAAAAAA others(29): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	292	0.0034	36	c.48+ others(49): Show c.48+602_48+603insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	1/10			chr5	TogoVar
DEPDC5_chr22_31749019_31913033	31864501	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02148.hp1 HG01167.hp2 HG02148.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0177 a0001c0002t0003g0188 a0001c0002t0003g0177 a0001c0002t0003g0188	2	204	0.0098	36	c.333 others(55): Show c.3330+3092_3330+3093insATATATATATATATATATATATATAT ATATATATAT	DEPDC5	ENSG00000100150.20	transcript	ENST00000651528.2	protein_coding	33/42		INFO_REALIGN_3_PRIME	chr22	TogoVar
DEPDC5_chr22_31749019_31913033	31894461	A A	ACCATAGT others(29): Show ACCATAGTTAACCAGTCCCCTGTTAATAAACATCACT	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0076 a0001c0001t0011g0076	1	204	0.0049	36	c.420 others(53): Show c.4203+711_4203+746dupCCATAGTTAACCAGTCCCCTGTTAATAA ACATCACT	DEPDC5	ENSG00000100150.20	transcript	ENST00000651528.2	protein_coding	39/42		INFO_REALIGN_3_PRIME	chr22	TogoVar

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