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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⚠️ 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
DDX50_chr10_68896315_68951847	68931426	T T	TATACACA others(11): Show TATACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00621.hp2 HG01169.hp1 others(20): Show HG00544.hp2 HG00621.hp2 HG01169.hp1 HG01243.hp2 HG01358.hp1 HG01358.hp2 HG01515.hp1 HG01517.hp1 HG01952.hp2 HG01993.hp2 HG02129.hp2 HG02135.hp1 HG02257.hp2 HG04204.hp2 HG06807.hp1 NA18954.hp1 NA18970.hp2 NA18983.hp1 NA19005.hp2 NA19062.hp2 NA19065.hp1 NA19087.hp2 NA19088.hp1	a0000 a0001 a0003 a0000 a0001 a0003	a0000c0010 a0001c0001 a0003c0015 a0000c0010 a0001c0001 a0003c0015	a0000c0010t0001 a0001c0001t0001 a0003c0015t0001 a0000c0010t0001 a0001c0001t0001 a0003c0015t0001	a0000c0010t0001g0127 a0001c0001t0001g0005 a0001c0001t0001g0006 others(18): Show a0000c0010t0001g0127 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0027 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0104 a0001c0001t0001g0110 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0153 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0171 a0001c0001t0001g0172 a0003c0015t0001g0173	23	334	0.0689	18	c.124 others(37): Show c.1240-2772_1240-2771insTACACACACACACACACA	DDX50	ENSG00000107625.14	transcript	ENST00000373585.8	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
DDX50_chr10_68896315_68951847	68931426	T T	TATATACA others(11): Show TATATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02886.hp2 HG02922.hp2 HG02615.hp1 HG02886.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0005g0167 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0005g0167	3	334	0.0090	18	c.124 others(37): Show c.1240-2772_1240-2771insTATACACACACACACACA	DDX50	ENSG00000107625.14	transcript	ENST00000373585.8	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
DDX60L_chr4_168351735_168485492	168422999	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01515.hp1 HG02572.hp1 others(8): Show HG00280.hp1 HG01515.hp1 HG02572.hp1 HG02630.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03225.hp1	a0002 a0004 a0017 others(2): Show a0002 a0004 a0017 a0026 a0050	a0002c0018 a0002c0026 a0002c0069 others(5): Show a0002c0018 a0002c0026 a0002c0069 a0004c0011 a0004c0041 a0017c0035 a0026c0040 a0050c0066	a0002c0018t0002 a0002c0026t0001 a0002c0069t0002 others(6): Show a0002c0018t0002 a0002c0026t0001 a0002c0069t0002 a0004c0011t0001 a0004c0011t0005 a0004c0041t0001 a0017c0035t0001 a0026c0040t0004 a0050c0066t0001	a0002c0018t0002g0226 a0002c0026t0001g0233 a0002c0026t0001g0234 others(8): Show a0002c0018t0002g0226 a0002c0026t0001g0233 a0002c0026t0001g0234 a0002c0069t0002g0239 a0004c0011t0001g0121 a0004c0011t0001g0122 a0004c0011t0005g0118 a0004c0041t0001g0237 a0017c0035t0001g0095 a0026c0040t0004g0064 a0050c0066t0001g0123	11	268	0.0410	18	c.209 others(35): Show c.2098-330_2098-329insTACACACACACACACACA	DDX60L	ENSG00000181381.15	transcript	ENST00000682922.1	protein_coding	15/37			chr4	TogoVar
DDX60L_chr4_168351735_168485492	168423579	T T	TTAAGAAA others(11): Show TTAAGAAATTCTAAAAGTA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01123.hp2 HG02109.hp1 others(25): Show HG01109.hp1 HG01123.hp2 HG02109.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02622.hp2 HG02647.hp1 HG02717.hp1 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02970.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03579.hp1 HG03579.hp2 HG06807.hp2 NA18906.hp2 NA19030.hp1 NA21309.hp1	a0002 a0004 a0010 others(12): Show a0002 a0004 a0010 a0013 a0014 a0019 a0027 a0036 a0038 a0039 a0042 a0044 a0045 a0046 a0047	a0002c0018 a0002c0089 a0004c0011 others(16): Show a0002c0018 a0002c0089 a0004c0011 a0004c0019 a0004c0041 a0004c0080 a0010c0024 a0013c0060 a0014c0017 a0019c0027 a0027c0083 a0036c0052 a0038c0092 a0039c0084 a0042c0065 a0044c0088 a0045c0091 a0046c0076 a0047c0075	a0002c0018t0003 a0002c0089t0002 a0004c0011t0001 others(18): Show a0002c0018t0003 a0002c0089t0002 a0004c0011t0001 a0004c0019t0001 a0004c0041t0005 a0004c0080t0001 a0010c0024t0002 a0010c0024t0011 a0013c0060t0002 a0014c0017t0002 a0014c0017t0010 a0019c0027t0002 a0027c0083t0004 a0036c0052t0002 a0038c0092t0002 a0039c0084t0001 a0042c0065t0002 a0044c0088t0001 a0045c0091t0002 a0046c0076t0002 a0047c0075t0004	a0002c0018t0003g0066 a0002c0089t0002g0069 a0004c0011t0001g0112 others(25): Show a0002c0018t0003g0066 a0002c0089t0002g0069 a0004c0011t0001g0112 a0004c0011t0001g0161 a0004c0019t0001g0070 a0004c0019t0001g0080 a0004c0041t0005g0014 a0004c0080t0001g0227 a0010c0024t0002g0119 a0010c0024t0002g0120 a0010c0024t0011g0263 a0013c0060t0002g0110 a0014c0017t0002g0074 a0014c0017t0002g0105 a0014c0017t0002g0259 a0014c0017t0010g0071 a0019c0027t0002g0005 a0019c0027t0002g0006 a0019c0027t0002g0007 a0027c0083t0004g0240 a0036c0052t0002g0082 a0038c0092t0002g0067 a0039c0084t0001g0116 a0042c0065t0002g0214 a0044c0088t0001g0004 a0045c0091t0002g0104 a0046c0076t0002g0224 a0047c0075t0004g0223	28	268	0.1045	18	c.209 others(33): Show c.2097+28_2097+29insTACTTTTAGAATTTCTTA	DDX60L	ENSG00000181381.15	transcript	ENST00000682922.1	protein_coding	15/37			chr4	TogoVar
DDX60L_chr4_168351735_168485492	168454758	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02970.hp2 HG01123.hp2 HG02970.hp2	a0004 a0010 a0004 a0010	a0004c0011 a0010c0024 a0004c0011 a0010c0024	a0004c0011t0001 a0010c0024t0011 a0004c0011t0001 a0010c0024t0011	a0004c0011t0001g0122 a0010c0024t0011g0263 a0004c0011t0001g0122 a0010c0024t0011g0263	2	268	0.0075	18	c.837 others(35): Show c.837+1263_837+1280dupAAAAAAAAAAAAAAAAAA	DDX60L	ENSG00000181381.15	transcript	ENST00000682922.1	protein_coding	7/37			chr4	TogoVar
DDX60L_chr4_168351735_168485492	168455272	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01891.hp1 HG02109.hp1 others(9): Show HG01496.hp2 HG01891.hp1 HG02109.hp1 HG02280.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp2 HG03453.hp1 HG03654.hp2 NA18978.hp2	a0001 a0002 a0014 others(5): Show a0001 a0002 a0014 a0015 a0019 a0042 a0044 a0048	a0001c0002 a0002c0018 a0002c0086 others(6): Show a0001c0002 a0002c0018 a0002c0086 a0014c0017 a0015c0022 a0019c0027 a0042c0065 a0044c0088 a0048c0085	a0001c0002t0001 a0002c0018t0002 a0002c0086t0002 others(6): Show a0001c0002t0001 a0002c0018t0002 a0002c0086t0002 a0014c0017t0002 a0015c0022t0001 a0019c0027t0002 a0042c0065t0002 a0044c0088t0001 a0048c0085t0002	a0001c0002t0001g0037 a0001c0002t0001g0197 a0002c0018t0002g0226 others(9): Show a0001c0002t0001g0037 a0001c0002t0001g0197 a0002c0018t0002g0226 a0002c0086t0002g0068 a0014c0017t0002g0259 a0015c0022t0001g0232 a0019c0027t0002g0005 a0019c0027t0002g0006 a0019c0027t0002g0007 a0042c0065t0002g0214 a0044c0088t0001g0004 a0048c0085t0002g0073	12	268	0.0448	18	c.837 others(33): Show c.837+749_837+766dupCACACACACACACACACA	DDX60L	ENSG00000181381.15	transcript	ENST00000682922.1	protein_coding	7/37			chr4	TogoVar
DDX60L_chr4_168351735_168485492	168459754	G G	GGGAGAGG others(11): Show GGGAGAGGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0012 a0004c0005t0001g0012	1	268	0.0037	18	c.607 others(35): Show c.607-1747_607-1746insTTCCTTCCTTCCCTCTCC	DDX60L	ENSG00000181381.15	transcript	ENST00000682922.1	protein_coding	5/37			chr4	TogoVar
DDX60L_chr4_168351735_168485492	168459774	G G	GAAGGAAG others(11): Show GAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0038 a0001c0002t0001g0038	1	268	0.0037	18	c.607 others(35): Show c.607-1767_607-1766insTTCCTTCCTTCCTTCCTT	DDX60L	ENSG00000181381.15	transcript	ENST00000682922.1	protein_coding	5/37			chr4	TogoVar
DDX60_chr4_168211294_168323752	168215492	C C	CAAAACAA others(11): Show CAAAACAAAACAAAACAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01952.hp1 HG01978.hp2 others(19): Show HG01496.hp1 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG02056.hp2 HG02135.hp1 HG02155.hp1 HG02273.hp2 NA18944.hp1 NA18978.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18998.hp1 NA19001.hp2 NA19002.hp1 NA19054.hp2 NA19055.hp2 NA19067.hp2 NA19074.hp2 NA19080.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0016 a0001c0028 others(2): Show a0001c0001 a0001c0016 a0001c0028 a0002c0002 a0002c0035	a0001c0001t0001 a0001c0016t0001 a0001c0028t0001 others(2): Show a0001c0001t0001 a0001c0016t0001 a0001c0028t0001 a0002c0002t0001 a0002c0035t0001	a0001c0001t0001g0145 a0001c0016t0001g0251 a0001c0028t0001g0159 others(19): Show a0001c0001t0001g0145 a0001c0016t0001g0251 a0001c0028t0001g0159 a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0098 a0002c0002t0001g0226 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0242 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0035t0001g0231	22	270	0.0815	18	c.14 others(29): Show c.1440_*1441insTTTGTTTTGTTTTGTTTT	DDX60	ENSG00000137628.18	transcript	ENST00000393743.8	protein_coding		801		chr4	TogoVar
DDX60_chr4_168211294_168323752	168215494	A A	AAACAAAA others(11): Show AAACAAAACAAAACAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp2 NA19068.hp1 NA18948.hp2 NA19068.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0085 a0002c0002t0001g0248 a0002c0002t0001g0085 a0002c0002t0001g0248	2	270	0.0074	18	c.14 others(29): Show c.1438_*1439insGTTTTGTTTTGTTTTGTT	DDX60	ENSG00000137628.18	transcript	ENST00000393743.8	protein_coding		799		chr4	TogoVar
DDX6_chr11_118742763_118796164	118764835	C C	CACACACA others(11): Show CACACACACACACACACAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03471.hp1 HG01109.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0030 a0001c0001t0021 a0001c0001t0030	a0001c0001t0021g0240 a0001c0001t0030g0230 a0001c0001t0021g0240 a0001c0001t0030g0230	2	370	0.0054	18	c.646 others(33): Show c.646+373_646+374insCTGTGTGTGTGTGTGTGT	DDX6	ENSG00000110367.14	transcript	ENST00000534980.7	protein_coding	6/13			chr11	TogoVar
DDX6_chr11_118742763_118796164	118783810	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0106 a0001c0001t0106	a0001c0001t0106g0271 a0001c0001t0106g0271	1	370	0.0027	18	c.200 others(35): Show c.200+2241_200+2242insTTTTTTTTTTTTTTTTTT	DDX6	ENSG00000110367.14	transcript	ENST00000534980.7	protein_coding	2/13			chr11	TogoVar
DEDD2_chr19_42193598_42222677	42212037	C C	CAATAATA others(11): Show CAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02615.hp2 HG02818.hp1 others(1): Show HG02109.hp1 HG02615.hp2 HG02818.hp1 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0001 a0002c0004t0003 a0001c0002t0001 a0002c0004t0003	a0001c0002t0001g0106 a0001c0002t0001g0107 a0002c0004t0003g0026 a0001c0002t0001g0106 a0001c0002t0001g0107 a0002c0004t0003g0026	4	252	0.0159	18	c.449 others(35): Show c.449-2215_449-2198dupATTATTATTATTATTATT	DEDD2	ENSG00000160570.14	transcript	ENST00000596251.6	protein_coding	3/4			chr19	TogoVar
DEFB105A_chr8_7816004_7828880	7816064	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0036 a0001c0001t0013g0036	1	146	0.0069	18	c.59 others(29): Show c.5943_*5944insAAAAAAAAAAAAAAAAAA	DEFB105A	ENSG00000186562.8	transcript	ENST00000334773.7	protein_coding		4939		chr8	TogoVar
DEFB107A_chr8_7806720_7820716	7815247	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	170	0.0059	18	c.70+ others(31): Show c.70+294_70+311dupTTTTTTTTTTTTTTTTTT	DEFB107A	ENSG00000186572.2	transcript	ENST00000335021.2	protein_coding	1/1			chr8	TogoVar
DEFB107A_chr8_7806720_7820716	7816064	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	170	0.0059	18	c.-43 others(27): Show c.-437_-436insAAAAAAAAAAAAAAAAAA	DEFB107A	ENSG00000186572.2	transcript	ENST00000335021.2	protein_coding		349		chr8	TogoVar
DEFB116_chr20_31298212_31313585	31298455	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00597.hp1 others(13): Show HG00099.hp2 HG00408.hp2 HG00597.hp1 HG00733.hp2 HG01069.hp1 HG01071.hp2 HG01257.hp1 HG02148.hp1 HG02738.hp2 HG02976.hp2 HG03704.hp2 NA18969.hp2 NA18985.hp1 NA18985.hp2 NA19068.hp1 NA19083.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0000 a0003c0004t0000 a0001c0001t0000 a0003c0004t0000	a0001c0001t0000g0001 a0001c0001t0000g0002 a0001c0001t0000g0003 others(5): Show a0001c0001t0000g0001 a0001c0001t0000g0002 a0001c0001t0000g0003 a0001c0001t0000g0008 a0001c0001t0000g0011 a0001c0001t0000g0030 a0001c0001t0000g0044 a0003c0004t0000g0016	16	416	0.0385	18	c.47 others(29): Show c.4756_*4757insTTTTTTTTTTTTTTTTTT	DEFB116	ENSG00000215545.1	transcript	ENST00000400549.1	protein_coding		4756		chr20	TogoVar
DEFB121_chr20_31399845_31411215	31410823	T T	TGAGAGAG others(11): Show TGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02895.hp2 HG02976.hp1 HG01884.hp2 HG02895.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	372	0.0081	18	c.-46 others(29): Show c.-4689_-4672dupTCTCTCTCTCTCTCTCTC	DEFB121	ENSG00000204548.4	transcript	ENST00000376314.3	protein_coding		4609		chr20	TogoVar
DEFB124_chr20_31460471_31480127	31460620	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG00544.hp2 others(16): Show HG00438.hp2 HG00544.hp1 HG00544.hp2 HG01070.hp1 HG01071.hp1 HG01168.hp2 HG01255.hp2 HG02040.hp2 HG02630.hp1 HG02698.hp1 HG02922.hp1 HG03491.hp1 HG03834.hp1 NA18955.hp1 NA19056.hp1 NA19068.hp1 NA19070.hp2 NA19086.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0011 others(11): Show a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0021 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0087 a0001c0001t0002g0089 a0001c0001t0002g0130	19	362	0.0525	18	c.48 others(29): Show c.4885_*4886insTTTTTTTTTTTTTTTTTT	DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding		4850		chr20	TogoVar
DEFB124_chr20_31460471_31480127	31463125	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	362	0.0028	18	c.23 others(29): Show c.2380_*2381insAAAAAAAAAAAAAAAAAA	DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding		2345		chr20	TogoVar
DEFB124_chr20_31460471_31480127	31466606	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00733.hp2 HG01069.hp1 others(21): Show HG00597.hp1 HG00733.hp2 HG01069.hp1 HG02040.hp2 HG02145.hp1 HG02165.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02965.hp1 HG02976.hp1 HG03225.hp2 NA18947.hp1 NA18952.hp2 NA18955.hp1 NA18975.hp1 NA18981.hp2 NA19010.hp1 NA19086.hp1 NA20129.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0030 others(17): Show a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0030 a0001c0001t0002g0033 a0001c0001t0002g0068 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0075 a0001c0001t0002g0078 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0111 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0121 a0001c0001t0002g0128	24	362	0.0663	18	c.59- others(31): Show c.59-944_59-943insATATATATATATATATAT	DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding	2/2			chr20	TogoVar
DENND11_chr7_141651728_141707166	141674230	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	345	0.0029	18	c.528 others(31): Show c.528-28_528-11dupGTGTGTGTGTGTGTGTGT	DENND11	ENSG00000257093.7	transcript	ENST00000536163.6	protein_coding	3/8			chr7	TogoVar
DENND11_chr7_141651728_141707166	141703542	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG01081.hp1 HG01168.hp2 others(20): Show HG00280.hp1 HG01081.hp1 HG01168.hp2 HG01261.hp1 HG02055.hp1 HG02055.hp2 HG02145.hp2 HG02559.hp1 HG02572.hp1 HG02683.hp2 HG02809.hp1 HG02895.hp1 HG03098.hp1 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03927.hp2 NA18975.hp2 NA18980.hp1 NA18997.hp1 NA19240.hp1 NA20129.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0001t0016 a0001c0002t0001 a0001c0002t0003 a0001c0002t0015	a0001c0001t0001g0025 a0001c0001t0001g0096 a0001c0001t0001g0181 others(17): Show a0001c0001t0001g0025 a0001c0001t0001g0096 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0254 a0001c0001t0002g0022 a0001c0001t0002g0178 a0001c0001t0013g0169 a0001c0001t0013g0185 a0001c0001t0016g0032 a0001c0002t0001g0008 a0001c0002t0001g0212 a0001c0002t0003g0191 a0001c0002t0003g0281 a0001c0002t0015g0268	23	345	0.0667	18	c.-13 others(29): Show c.-1390_-1389insCACACACACACACACACA	DENND11	ENSG00000257093.7	transcript	ENST00000536163.6	protein_coding		1377		chr7	TogoVar
DENND1A_chr9_123374658_123935126	123395468	C C	CTCTCTCT others(11): Show CTCTCTCTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0084 a0001c0001t0008g0084	1	162	0.0062	18	c.163 others(37): Show c.1632-7611_1632-7610insCACACACACACAGAGAGA	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	21/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123395468	C C	CTCTCTGT others(11): Show CTCTCTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01070.hp1 HG01099.hp1 others(10): Show HG01069.hp1 HG01070.hp1 HG01099.hp1 HG01168.hp1 HG01192.hp1 HG02615.hp2 HG02717.hp2 HG02818.hp1 HG03041.hp1 HG03486.hp2 HG03579.hp2 NA18747.hp1 NA20129.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0004c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0006t0002 a0004c0011t0001	a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 others(10): Show a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0087 a0001c0001t0002g0155 a0001c0001t0008g0083 a0001c0001t0008g0115 a0001c0002t0001g0103 a0001c0002t0001g0105 a0001c0002t0002g0146 a0001c0006t0002g0034 a0004c0011t0001g0023 a0004c0011t0001g0024	13	162	0.0803	18	c.163 others(37): Show c.1632-7611_1632-7610insCACACACACACACAGAGA	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	21/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123395468	C C	CTCTGTGT others(11): Show CTCTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0040 a0001c0013t0001g0040	1	162	0.0062	18	c.163 others(37): Show c.1632-7611_1632-7610insCACACACACACACACAGA	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	21/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123485617	A A	ACCGTGTG others(11): Show ACCGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01070.hp1 HG01109.hp2 others(32): Show HG00140.hp1 HG01070.hp1 HG01109.hp2 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01358.hp2 HG01981.hp2 HG02055.hp2 HG02056.hp1 HG02258.hp2 HG02486.hp2 HG02683.hp1 HG02896.hp2 HG03139.hp2 HG03453.hp1 HG03491.hp2 HG03492.hp2 HG03927.hp1 HG03927.hp2 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18962.hp1 NA18962.hp2 NA18965.hp2 NA18970.hp1 NA18970.hp2 NA18975.hp2 NA19010.hp1 NA19030.hp1 NA19043.hp2 NA19240.hp1 NA20752.hp1 NA20905.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0022 a0004c0011	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(15): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0004 a0001c0003t0001 a0001c0003t0009 a0001c0003t0015 a0001c0004t0001 a0001c0004t0002 a0001c0004t0009 a0001c0004t0014 a0001c0006t0001 a0001c0006t0002 a0001c0006t0011 a0001c0008t0001 a0001c0022t0002 a0004c0011t0001	a0001c0001t0002g0054 a0001c0001t0002g0070 a0001c0001t0002g0078 others(32): Show a0001c0001t0002g0054 a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0003g0124 a0001c0001t0004g0156 a0001c0001t0004g0159 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0118 a0001c0002t0004g0020 a0001c0002t0004g0112 a0001c0003t0001g0096 a0001c0003t0001g0100 a0001c0003t0001g0119 a0001c0003t0001g0120 a0001c0003t0009g0117 a0001c0003t0015g0097 a0001c0004t0001g0052 a0001c0004t0001g0086 a0001c0004t0001g0110 a0001c0004t0001g0122 a0001c0004t0002g0081 a0001c0004t0002g0082 a0001c0004t0009g0158 a0001c0004t0014g0074 a0001c0006t0001g0019 a0001c0006t0001g0036 a0001c0006t0001g0098 a0001c0006t0002g0034 a0001c0006t0011g0160 a0001c0006t0011g0162 a0001c0008t0001g0064 a0001c0022t0002g0068 a0004c0011t0001g0023 a0004c0011t0001g0024	35	162	0.2161	18	c.994 others(37): Show c.994-27738_994-27721dupGCGCACACACACACACGG	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	13/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123485656	G G	GCGCGCAC others(11): Show GCGCGCACACACACACACA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0119 a0001c0003t0001g0119	1	162	0.0062	18	c.994 others(37): Show c.994-27760_994-27759insTGTGTGTGTGTGTGCGCG	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	13/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123485656	G G	GCGCGCGC others(11): Show GCGCGCGCACACACACACA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0036 a0001c0006t0001g0036	1	162	0.0062	18	c.994 others(37): Show c.994-27760_994-27759insTGTGTGTGTGTGCGCGCG	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	13/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123485656	G G	GCGCGCGC others(11): Show GCGCGCGCGCACACACACA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0100 a0001c0003t0001g0100	1	162	0.0062	18	c.994 others(37): Show c.994-27760_994-27759insTGTGTGTGTGCGCGCGCG	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	13/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123495141	T T	TTCTCTCT others(11): Show TTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0069 a0001c0001t0003g0069	1	162	0.0062	18	c.994 others(37): Show c.994-37262_994-37245dupGAGAGAGAGAGAGAGAGA	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	13/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123516884	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0001 a0004c0011t0001	a0004c0011t0001g0024 a0004c0011t0001g0024	1	162	0.0062	18	c.993 others(37): Show c.993+40668_993+40685dupTTTTTTTTTTTTTTTTTT	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	13/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123552019	G G	GAGAGAGA others(11): Show GAGAGAGAGAGAGAGAGAC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0052 a0001c0004t0001g0052	1	162	0.0062	18	c.993 others(35): Show c.993+5550_993+5551insGTCTCTCTCTCTCTCTCT	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	13/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123552039	C C	CAGAGAGA others(11): Show CAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0115 a0001c0001t0008g0115	1	162	0.0062	18	c.993 others(35): Show c.993+5513_993+5530dupCTCTCTCTCTCTCTCTCT	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	13/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123566913	C C	CCACACAC others(11): Show CCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0098 a0001c0006t0001g0098	1	162	0.0062	18	c.868 others(35): Show c.868-9236_868-9219dupTGTGTGTGTGTGTGTGTG	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	12/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123693804	A A	ATATTATT others(11): Show ATATTATTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0088 a0001c0002t0004g0088	1	162	0.0062	18	c.303 others(37): Show c.303-17033_303-17016dupATAATAATAATAATAATA	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	5/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123710560	C C	CACACACA others(11): Show CACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp2 HG02809.hp1 others(4): Show HG02056.hp1 HG02056.hp2 HG02809.hp1 HG03195.hp1 HG04228.hp2 HG06807.hp2 NA18747.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0010 a0001c0001 a0001c0004 a0003c0010	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0004t0001 a0001c0004t0009 a0003c0010t0002	a0001c0001t0001g0049 a0001c0001t0001g0055 a0001c0001t0004g0159 others(4): Show a0001c0001t0001g0049 a0001c0001t0001g0055 a0001c0001t0004g0159 a0001c0001t0006g0056 a0001c0004t0001g0110 a0001c0004t0009g0158 a0003c0010t0002g0101	7	162	0.0432	18	c.303 others(37): Show c.303-33772_303-33771insATGTGTGTGTGTGTGTGT	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	5/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123711486	A A	AAAAAATA others(11): Show AAAAAATATATATATATGT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0115 a0001c0001t0008g0115	1	162	0.0062	18	c.303 others(37): Show c.303-34698_303-34697insACATATATATATATTTTT	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	5/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123711486	A A	AAAATATA others(11): Show AAAATATATATATATATGT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0052 a0001c0004t0001g0052	1	162	0.0062	18	c.303 others(37): Show c.303-34698_303-34697insACATATATATATATATTT	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	5/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123711493	A A	ATATATAT others(11): Show ATATATATATGTATATATG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02976.hp1 HG02055.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0054 a0001c0001t0003g0053 a0001c0001t0002g0054 a0001c0001t0003g0053	2	162	0.0124	18	c.303 others(37): Show c.303-34705_303-34704insCATATATACATATATATA	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	5/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123711497	A A	ATATATGT others(11): Show ATATATGTATATATGTATG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	162	0.0062	18	c.303 others(37): Show c.303-34709_303-34708insCATACATATATACATATA	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	5/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123728479	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 NA18522.hp2 HG01192.hp1 NA18522.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0011 a0001c0001 a0004c0011	a0001c0001t0003 a0004c0011t0001 a0001c0001t0003 a0004c0011t0001	a0001c0001t0003g0132 a0004c0011t0001g0024 a0001c0001t0003g0132 a0004c0011t0001g0024	2	162	0.0124	18	c.302 others(37): Show c.302+29206_302+29223dupTTTTTTTTTTTTTTTTTT	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	5/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123728486	A A	AAAAAACA others(11): Show AAAAAACAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0080 a0001c0001t0004g0080	1	162	0.0062	18	c.302 others(37): Show c.302+29216_302+29217insGTTTTTTTTTTTGTTTTT	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	5/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123740899	T T	TGAGAGAG others(11): Show TGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03471.hp2 HG03491.hp2 HG02145.hp2 HG03471.hp2 HG03491.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0019 a0002c0007 a0001c0003 a0001c0019 a0002c0007	a0001c0003t0001 a0001c0019t0001 a0002c0007t0001 a0001c0003t0001 a0001c0019t0001 a0002c0007t0001	a0001c0003t0001g0119 a0001c0019t0001g0136 a0002c0007t0001g0129 a0001c0003t0001g0119 a0001c0019t0001g0136 a0002c0007t0001g0129	3	162	0.0185	18	c.302 others(37): Show c.302+16786_302+16803dupTCTCTCTCTCTCTCTCTC	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	5/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123779872	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02896.hp1 HG03486.hp1 HG02886.hp1 HG02896.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0154 a0001c0001t0003g0076 a0001c0001t0003g0157 a0001c0001t0001g0154 a0001c0001t0003g0076 a0001c0001t0003g0157	3	162	0.0185	18	c.133 others(37): Show c.133-10310_133-10309insAAAAAAAAAAAAAAAAAA	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	3/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123796756	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0098 a0001c0006t0001g0098	1	162	0.0062	18	c.89- others(33): Show c.89-4144_89-4127dupGTGTGTGTGTGTGTGTGT	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	2/23			chr9	TogoVar
DENND1B_chr1_197499748_197780480	197536095	A A	AGAGGGAG others(11): Show AGAGGGAGAGAGACGGAGG	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0060 a0001c0001t0003g0060	1	280	0.0036	18	c.151 others(37): Show c.1515+3851_1515+3868dupCCTCCGTCTCTCTCCCTC	DENND1B	ENSG00000213047.13	transcript	ENST00000620048.6	protein_coding	20/22			chr1	TogoVar
DENND1B_chr1_197499748_197780480	197544804	A A	AGAAGAAG others(11): Show AGAAGAAGAGGAAGAGGAG	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	280	0.0036	18	c.135 others(37): Show c.1350+1100_1350+1117dupCTCCTCTTCCTCTTCTTC	DENND1B	ENSG00000213047.13	transcript	ENST00000620048.6	protein_coding	18/22			chr1	TogoVar
DENND1B_chr1_197499748_197780480	197545028	G G	GAGGAGAA others(11): Show GAGGAGAAGGAGAAGGAGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00423.hp1 others(98): Show HG00140.hp2 HG00280.hp2 HG00423.hp1 HG00609.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00741.hp1 HG01070.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01496.hp1 HG01516.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02083.hp1 HG02109.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02257.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02523.hp1 HG02602.hp1 HG02647.hp1 HG02698.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03239.hp2 HG03492.hp1 HG03516.hp1 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp2 HG06807.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp2 NA18945.hp1 NA18946.hp2 NA18949.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18955.hp2 NA18960.hp1 NA18961.hp1 NA18964.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18975.hp1 NA18982.hp1 NA18986.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp2 NA18993.hp1 NA19000.hp1 NA19002.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp2 NA19009.hp2 NA19011.hp2 NA19043.hp1 NA19058.hp1 NA19060.hp2 NA19062.hp2 NA19072.hp2 NA19081.hp2 NA19083.hp2 NA19085.hp1 NA19086.hp1 NA19090.hp1 NA19090.hp2 NA20129.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0002 a0001c0007 others(2): Show a0001c0001 a0001c0002 a0001c0007 a0004c0008 a0005c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(21): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0045 a0001c0001t0053 a0001c0002t0002 a0001c0002t0017 a0001c0007t0005 a0004c0008t0030 a0004c0008t0031 a0005c0005t0017	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0059 others(97): Show a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0059 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0269 a0001c0001t0001g0276 a0001c0001t0003g0201 a0001c0001t0003g0274 a0001c0001t0005g0011 a0001c0001t0005g0012 a0001c0001t0005g0146 a0001c0001t0005g0270 a0001c0001t0007g0260 a0001c0001t0011g0164 a0001c0001t0011g0191 a0001c0001t0011g0217 a0001c0001t0011g0220 a0001c0001t0012g0230 a0001c0001t0012g0231 a0001c0001t0012g0232 a0001c0001t0012g0233 a0001c0001t0015g0271 a0001c0001t0015g0272 a0001c0001t0015g0273 a0001c0001t0020g0155 a0001c0001t0021g0015 a0001c0001t0021g0222 a0001c0001t0024g0157 a0001c0001t0024g0158 a0001c0001t0025g0168 a0001c0001t0025g0246 a0001c0001t0038g0166 a0001c0001t0039g0185 a0001c0001t0040g0183 a0001c0001t0041g0182 a0001c0001t0042g0203 a0001c0001t0045g0162 a0001c0001t0053g0190 a0001c0002t0002g0133 a0001c0002t0017g0105 a0001c0007t0005g0154 a0001c0007t0005g0258 a0004c0008t0030g0003 a0004c0008t0031g0002 a0005c0005t0017g0210 a0005c0005t0017g0275	101	280	0.3607	18	c.135 others(35): Show c.1350+876_1350+893dupTCTCCTTCTCCTTCTCCT	DENND1B	ENSG00000213047.13	transcript	ENST00000620048.6	protein_coding	18/22			chr1	TogoVar
DENND1B_chr1_197499748_197780480	197580258	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0014 a0001c0001t0035g0014	1	280	0.0036	18	c.114 others(37): Show c.1149+2876_1149+2893dupAAAAAAAAAAAAAAAAAA	DENND1B	ENSG00000213047.13	transcript	ENST00000620048.6	protein_coding	15/22			chr1	TogoVar

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