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
DHRS12_chr13_51762993_51809163	51775817	TCTCCTAC others(15): Show TCTCCTACAGTACATGTATTCTC	T T	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0261 a0001c0001t0002g0261	1	420	0.0024	-22	c.363 others(39): Show c.363+1221_363+1242delGAGAATACATGTACTGTAGGAG	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRS12_chr13_51762993_51809163	51802169	TCACACAC others(15): Show TCACACACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02622.hp2 HG02559.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0321 a0001c0001t0001g0143 a0001c0001t0001g0321	2	420	0.0048	-22	c.-9+ others(37): Show c.-9+1863_-9+1884delTGTGTGTGTGTGTGTGTGTGTG	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	1/8			chr13	TogoVar
DHRS3_chr1_12562910_12623210	12615179	TAGCTCCA others(15): Show TAGCTCCAGAAGCCTCATTATAA	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03516.hp2 HG02922.hp1 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0009 a0001c0002t0012g0009	2	376	0.0053	-22	c.195 others(39): Show c.195+1953_195+1974delTTATAATGAGGCTTCTGGAGCT	DHRS3	ENSG00000162496.9	transcript	ENST00000616661.5	protein_coding	1/5			chr1	TogoVar
DHRS9_chr2_169064563_169101167	169079918	GGGGAGAG others(15): Show GGGGAGAGAGAGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0376 a0001c0002t0003g0376	1	398	0.0025	-22	c.-59 others(39): Show c.-59-1603_-59-1582delGGAGAGAGAGAGAGAGAGAGAG	DHRS9	ENSG00000073737.17	transcript	ENST00000674881.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
DHRS9_chr2_169064563_169101167	169079920	GGAGAGAG others(15): Show GGAGAGAGAGAGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	398	0.0025	-22	c.-59 others(39): Show c.-59-1558_-59-1537delGAGAGAGAGAGAGAGAGAGAGA	DHRS9	ENSG00000073737.17	transcript	ENST00000674881.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
DHRS9_chr2_169064563_169101167	169079965	GAGAGAGA others(15): Show GAGAGAGAGAGAGAGAGAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	398	0.0025	-22	c.-59 others(39): Show c.-59-1554_-59-1533delGAGAGAGAGAGAGAGAGAAAGA	DHRS9	ENSG00000073737.17	transcript	ENST00000674881.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
DHRS9_chr2_169064563_169101167	169079985	GAAAGAAA others(15): Show GAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0363 a0001c0002t0002g0363	1	398	0.0025	-22	c.-59 others(39): Show c.-59-1536_-59-1515delAAGAAAGAAAGAAAGAAAGAAA	DHRS9	ENSG00000073737.17	transcript	ENST00000674881.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
DHTKD1_chr10_12063954_12128221	12117846	ATCTCCCC others(15): Show ATCTCCCCTCTCCTATTTTTATT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01109.hp2 HG01168.hp1 others(16): Show HG00738.hp1 HG01109.hp2 HG01168.hp1 HG01169.hp2 HG01243.hp1 HG01884.hp2 HG02572.hp2 HG02723.hp1 HG02818.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03139.hp2 HG03195.hp1 HG03471.hp1 HG03471.hp2 HG03579.hp1 NA20129.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0003c0003t0006 a0003c0003t0007 a0003c0003t0019 a0003c0003t0029 a0004c0007t0002 a0004c0007t0006 a0004c0007t0007	a0001c0001t0001g0326 a0001c0001t0002g0142 a0002c0002t0001g0046 others(16): Show a0001c0001t0001g0326 a0001c0001t0002g0142 a0002c0002t0001g0046 a0002c0002t0001g0047 a0003c0003t0006g0169 a0003c0003t0007g0087 a0003c0003t0007g0147 a0003c0003t0007g0148 a0003c0003t0007g0218 a0003c0003t0007g0273 a0003c0003t0007g0364 a0003c0003t0007g0365 a0003c0003t0019g0227 a0003c0003t0029g0217 a0004c0007t0002g0221 a0004c0007t0002g0224 a0004c0007t0006g0244 a0004c0007t0007g0252 a0004c0007t0007g0253	19	374	0.0508	-22	c.240 others(38): Show c.2402+93_2402+114delCTCCCCTCTCCTATTTTTATTT	DHTKD1	ENSG00000181192.12	transcript	ENST00000263035.9	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
DHTKD1_chr10_12063954_12128221	12125699	GGTAGGTG others(15): Show GGTAGGTGACCATAGTTTAATCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0190 a0003c0003t0002g0190	1	374	0.0027	-22	c.48 others(33): Show c.4812_*4833delGTAGGTGACCATAGTTTAATCA	DHTKD1	ENSG00000181192.12	transcript	ENST00000263035.9	protein_coding		2479		chr10	TogoVar
DHX15_chr4_24522475_24589554	24547877	CTCTCTCT others(15): Show CTCTCTCTCTCTCTATGTATGTA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 NA18962.hp1 others(2): Show HG00408.hp2 HG00423.hp2 NA18962.hp1 NA18968.hp1 NA19083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0194 a0001c0002t0001g0197 a0001c0002t0001g0198 others(2): Show a0001c0002t0001g0194 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0204 a0001c0002t0001g0205	5	374	0.0134	-22	c.124 others(39): Show c.1248+956_1248+977delTACATACATAGAGAGAGAGAGA	DHX15	ENSG00000109606.13	transcript	ENST00000336812.5	protein_coding	6/13			chr4	TogoVar
DHX15_chr4_24522475_24589554	24547927	ATATATAT others(15): Show ATATATATATATATATCTATATC	A A	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	374	0.0027	-22	c.124 others(39): Show c.1248+906_1248+927delGATATAGATATATATATATATA	DHX15	ENSG00000109606.13	transcript	ENST00000336812.5	protein_coding	6/13			chr4	TogoVar
DHX16_chr6_30648127_30678006	30676694	AATTCCAC others(15): Show AATTCCACGCAGACACAGCAAGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	383	0.0026	-22	c.-38 others(33): Show c.-3875_-3854delACTTGCTGTGTCTGCGTGGAAT	DHX16	ENSG00000204560.10	transcript	ENST00000376442.8	protein_coding		3689		chr6	TogoVar
DHX34_chr19_47344315_47387704	47368637	TATACACA others(15): Show TATACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG04115.hp1 HG03654.hp1 HG04115.hp1	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0009 a0009c0016t0009	a0009c0016t0009g0019 a0009c0016t0009g0019	2	382	0.0052	-22	c.176 others(41): Show c.1768+1484_1768+1505delTACACACACACACACACACACA	DHX34	ENSG00000134815.19	transcript	ENST00000328771.9	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
DHX34_chr19_47344315_47387704	47384325	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG02809.hp1 NA21309.hp2 HG02602.hp1 HG02809.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0003 a0001c0001t0002 a0001c0002t0003	a0001c0001t0002g0143 a0001c0001t0002g0203 a0001c0002t0003g0016 a0001c0001t0002g0143 a0001c0001t0002g0203 a0001c0002t0003g0016	3	382	0.0079	-22	c.22 others(33): Show c.2213_*2234delTTTTTTTTTTTTTTTTTTTTTT	DHX34	ENSG00000134815.19	transcript	ENST00000328771.9	protein_coding		1622		chr19	TogoVar
DHX36_chr3_154267546_154329487	154310800	AAAAAAAA others(15): Show AAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0192 a0001c0004t0003g0192	1	366	0.0027	-22	c.642 others(37): Show c.642+814_642+835delATATATATATATATATTTTTTT	DHX36	ENSG00000174953.14	transcript	ENST00000496811.6	protein_coding	4/24			chr3	TogoVar
DHX36_chr3_154267546_154329487	154310806	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01069.hp2 HG01168.hp2 others(14): Show HG00099.hp2 HG01069.hp2 HG01168.hp2 HG01255.hp1 HG01346.hp1 HG02258.hp1 HG02486.hp1 HG02615.hp2 HG02717.hp1 HG02897.hp1 HG02897.hp2 HG02976.hp1 HG03041.hp2 HG03492.hp2 HG04228.hp1 NA18953.hp1 NA19082.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0002c0014 others(1): Show a0001c0001 a0002c0002 a0002c0014 a0004c0011	a0001c0001t0002 a0002c0002t0001 a0002c0002t0007 others(2): Show a0001c0001t0002 a0002c0002t0001 a0002c0002t0007 a0002c0014t0001 a0004c0011t0006	a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 others(14): Show a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0002c0002t0001g0045 a0002c0002t0001g0061 a0002c0002t0001g0063 a0002c0002t0001g0095 a0002c0002t0001g0101 a0002c0002t0001g0155 a0002c0002t0001g0193 a0002c0002t0007g0112 a0002c0014t0001g0050 a0004c0011t0006g0344	17	366	0.0465	-22	c.642 others(37): Show c.642+808_642+829delATATATATATATATATATATAT	DHX36	ENSG00000174953.14	transcript	ENST00000496811.6	protein_coding	4/24			chr3	TogoVar
DHX36_chr3_154267546_154329487	154312852	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA18946.hp2 NA18961.hp2 others(3): Show HG03041.hp1 NA18946.hp2 NA18961.hp2 NA18968.hp2 NA18983.hp2 NA18988.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0004 a0002c0002 a0003c0007 a0001c0004 a0002c0002 a0003c0007	a0001c0004t0003 a0002c0002t0001 a0003c0007t0001 a0001c0004t0003 a0002c0002t0001 a0003c0007t0001	a0001c0004t0003g0192 a0002c0002t0001g0002 a0002c0002t0001g0046 others(1): Show a0001c0004t0003g0192 a0002c0002t0001g0002 a0002c0002t0001g0046 a0003c0007t0001g0158	6	366	0.0164	-22	c.604 others(39): Show c.604-1200_604-1179delATATATATATATATATATATAT	DHX36	ENSG00000174953.14	transcript	ENST00000496811.6	protein_coding	3/24			chr3	TogoVar
DIAPH2_chrX_96679842_97609997	96807944	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0141 a0001c0001t0013g0141	1	147	0.0068	-22	c.447 others(41): Show c.447+49704_447+49725delAAAAAAAAAAAAAAAAAAAAAA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	4/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	96854598	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02809.hp1 HG02895.hp1 others(1): Show HG01891.hp1 HG02809.hp1 HG02895.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0001t0003 a0001c0001t0006 a0001c0001t0011	a0001c0001t0003g0006 a0001c0001t0006g0005 a0001c0001t0011g0001 others(1): Show a0001c0001t0003g0006 a0001c0001t0006g0005 a0001c0001t0011g0001 a0001c0001t0011g0002	4	147	0.0272	-22	c.448 others(41): Show c.448-26958_448-26937delATATATATATATATATATATAT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	4/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	96888634	TATATATC others(15): Show TATATATCTATATATATATTACC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03579.hp1 HG02280.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0138 a0001c0001t0013g0141 a0001c0001t0001g0138 a0001c0001t0013g0141	2	147	0.0136	-22	c.587 others(39): Show c.587+6919_587+6940delATATCTATATATATATTACCAT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	5/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	96962316	TATATATA others(15): Show TATATATACACATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00621.hp1 others(29): Show HG00140.hp1 HG00280.hp1 HG00621.hp1 HG01071.hp2 HG01081.hp1 HG01192.hp1 HG02056.hp1 HG02071.hp1 HG02132.hp1 HG02300.hp1 HG02602.hp1 HG02735.hp1 HG03017.hp1 HG03490.hp1 HG03492.hp1 HG03710.hp1 HG03942.hp1 HG04199.hp1 HG04204.hp1 NA18953.hp1 NA18955.hp1 NA18961.hp1 NA18966.hp1 NA18970.hp1 NA18994.hp1 NA19002.hp1 NA19004.hp1 NA19056.hp1 NA19088.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0023 others(29): Show a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0048 a0001c0001t0001g0053 a0001c0001t0001g0133 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0109 a0001c0001t0005g0040 a0001c0001t0007g0049 a0001c0001t0008g0041 a0001c0001t0009g0036 a0001c0001t0009g0099 a0001c0001t0010g0028 a0001c0001t0014g0012 a0001c0001t0015g0144	32	147	0.2177	-22	c.193 others(41): Show c.1936-2769_1936-2748delCACATATATATATACATATATA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	16/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	96962474	TATATACA others(15): Show TATATACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0141 a0001c0001t0013g0141	1	147	0.0068	-22	c.193 others(41): Show c.1936-2613_1936-2592delCACACACACACACACACATATA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	16/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIP2A_chr21_46453891_46575015	46528527	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0262 a0001c0001t0002g0262	1	374	0.0027	-22	c.110 others(39): Show c.1103-545_1103-524delTTTTTTTTTTTTTTTTTTTTTT	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	8/37		INFO_REALIGN_3_PRIME	chr21	TogoVar
DIP2A_chr21_46453891_46575015	46573645	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG02922.hp1 NA18947.hp2 others(1): Show HG01109.hp1 HG02922.hp1 NA18947.hp2 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0298 a0001c0003t0003g0311 a0001c0003t0003g0335 others(1): Show a0001c0003t0003g0298 a0001c0003t0003g0311 a0001c0003t0003g0335 a0001c0003t0003g0370	4	374	0.0107	-22	c.60 others(33): Show c.6024_*6045delAAAAAAAAAAAAAAAAAAAAAA	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding		3631		chr21	TogoVar
DIP2B_chr12_50499985_50753657	50623421	ACACACAC others(15): Show ACACACACACACACACACTCTCT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0232 a0001c0002t0003g0232	1	284	0.0035	-22	c.101 others(39): Show c.101-2553_101-2532delACACACACACACACACTCTCTC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50623423	ACACACAC others(15): Show ACACACACACACACACTCTCTCT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0230 a0001c0002t0004g0230	1	284	0.0035	-22	c.101 others(39): Show c.101-2551_101-2530delACACACACACACACTCTCTCTC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	429317	CCCCCCGG others(15): Show CCCCCCGGACCCTGGCTGCCTCA	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01934.hp1 HG02004.hp1 others(2): Show HG00621.hp2 HG01934.hp1 HG02004.hp1 HG02300.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0001 a0001c0002t0003 a0001c0006t0002 a0001c0002t0001 a0001c0002t0003 a0001c0006t0002	a0001c0002t0001g0031 a0001c0002t0003g0030 a0001c0002t0003g0059 others(2): Show a0001c0002t0001g0031 a0001c0002t0003g0030 a0001c0002t0003g0059 a0001c0006t0002g0038 a0001c0006t0002g0046	5	88	0.0568	-22	c.395 others(39): Show c.395-6306_395-6285delTGAGGCAGCCAGGGTCCGGGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	4/36			chr10	TogoVar
DIP2C_chr10_269201_694668	685161	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02809.hp2 HG03453.hp1 others(1): Show HG02027.hp1 HG02809.hp2 HG03453.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0019 a0001c0001 a0001c0005 a0001c0019	a0001c0001t0001 a0001c0001t0005 a0001c0005t0002 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0005t0002 a0001c0019t0006	a0001c0001t0001g0013 a0001c0001t0005g0024 a0001c0005t0002g0087 others(1): Show a0001c0001t0001g0013 a0001c0001t0005g0024 a0001c0005t0002g0087 a0001c0019t0006g0014	4	88	0.0455	-22	c.85+ others(37): Show c.85+4311_85+4332delATATATATATATATATATATAT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	685165	TATATATA others(15): Show TATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0007 a0001c0009t0001g0007	1	88	0.0114	-22	c.85+ others(37): Show c.85+4307_85+4328delGTATATATATATATATATATAT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIS3L2_chr2_231956713_232342192	232078003	TTCTTTCT others(15): Show TTCTTTCTTTCTTTCTTTTTCTC	T T	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA18941.hp2 HG03471.hp1 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0119 a0001c0002t0001g0037 a0001c0001t0001g0119 a0001c0002t0001g0037	2	304	0.0066	-22	c.367 others(39): Show c.367-9482_367-9461delCTTTCTTTCTTTCTTTTTCTCT	DIS3L2	ENSG00000144535.20	transcript	ENST00000325385.12	protein_coding	5/20		INFO_REALIGN_3_PRIME	chr2	TogoVar
DIS3L2_chr2_231956713_232342192	232280680	AGGATGTG others(15): Show AGGATGTGCAGCTAATGTTTGAT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0142 a0001c0001t0005g0142	1	304	0.0033	-22	c.165 others(43): Show c.1659+17244_1659+17265delTGTGCAGCTAATGTTTGATGGA	DIS3L2	ENSG00000144535.20	transcript	ENST00000325385.12	protein_coding	13/20		INFO_REALIGN_3_PRIME	chr2	TogoVar
DIS3L_chr15_66288568_66338898	66313769	GTATATAT others(15): Show GTATATATATATGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0200 a0002c0002t0002g0200	1	400	0.0025	-22	c.736 others(37): Show c.736-260_736-239delATGTGTGTGTGTATATATATAT	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr15	TogoVar
DKK2_chr4_106916802_107041313	106962491	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0033 a0001c0001t0016g0033	1	218	0.0046	-22	c.223 others(41): Show c.223-36564_223-36543delCACACACACACACACACACACA	DKK2	ENSG00000155011.9	transcript	ENST00000285311.8	protein_coding	1/3			chr4	TogoVar
DKK2_chr4_106916802_107041313	106964946	TATAGATA others(15): Show TATAGATAGATAGATATAGATAG	T T	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0033 a0001c0001t0016g0033	1	218	0.0046	-22	c.223 others(41): Show c.223-39019_223-38998delCTATCTATATCTATCTATCTAT	DKK2	ENSG00000155011.9	transcript	ENST00000285311.8	protein_coding	1/3			chr4	TogoVar
DKK4_chr8_42369063_42382229	42379376	TATAGAGA others(15): Show TATAGAGAGAGAGAGAGAGAGAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG03579.hp2 HG02451.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	2	380	0.0053	-22	c.-23 others(33): Show c.-2353_-2332delCTCTCTCTCTCTCTCTCTCTAT	DKK4	ENSG00000104371.5	transcript	ENST00000220812.3	protein_coding		2148		chr8	TogoVar
DKK4_chr8_42369063_42382229	42379378	TAGAGAGA others(15): Show TAGAGAGAGAGAGAGAGAGAGAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	380	0.0026	-22	c.-23 others(33): Show c.-2355_-2334delCTCTCTCTCTCTCTCTCTCTCT	DKK4	ENSG00000104371.5	transcript	ENST00000220812.3	protein_coding		2150		chr8	TogoVar
DLC1_chr8_13078361_13519851	13219146	TTATATAA others(15): Show TTATATAATTATATGAATATAAC	T T	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0006 a0007c0009t0006	a0007c0009t0006g0152 a0007c0009t0006g0152	1	212	0.0047	-22	c.134 others(43): Show c.1348+86101_1348+86122delGTTATATTCATATAATTATATA	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	5/17			chr8	TogoVar
DLC1_chr8_13078361_13519851	13464746	TTATATAT others(15): Show TTATATATATATATATATATTTA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01256.hp1 HG02683.hp1 HG01109.hp1 HG01256.hp1 HG02683.hp1	a0010 a0014 a0010 a0014	a0010c0022 a0010c0048 a0014c0047 a0010c0022 a0010c0048 a0014c0047	a0010c0022t0004 a0010c0048t0007 a0014c0047t0006 a0010c0022t0004 a0010c0048t0007 a0014c0047t0006	a0010c0022t0004g0187 a0010c0048t0007g0185 a0014c0047t0006g0161 a0010c0022t0004g0187 a0010c0048t0007g0185 a0014c0047t0006g0161	3	212	0.0142	-22	c.102 others(43): Show c.1023+34281_1023+34302delTAAATATATATATATATATATA	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	2/17			chr8	TogoVar
DLG1_chr3_197037560_197303612	197127439	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02074.hp1 HG02965.hp1 others(4): Show HG00609.hp2 HG02074.hp1 HG02965.hp1 HG04115.hp1 NA18959.hp1 NA18982.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0015 a0001c0001t0001g0040 a0001c0001t0001g0041 others(4): Show a0001c0001t0001g0015 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0052 a0001c0001t0001g0084 a0001c0001t0001g0102 a0001c0001t0003g0028	7	332	0.0211	-22	c.116 others(41): Show c.1165+3066_1165+3087delATATTTTTTTTTTTTTTTTTTT	DLG1	ENSG00000075711.21	transcript	ENST00000667157.1	protein_coding	11/24			chr3	TogoVar
DLG1_chr3_197037560_197303612	197127441	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG01256.hp1 NA18953.hp1 NA18962.hp1 others(2): Show HG01256.hp1 NA18953.hp1 NA18962.hp1 NA18986.hp2 NA19000.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0013c0016 a0001c0001 a0013c0016	a0001c0001t0001 a0013c0016t0001 a0001c0001t0001 a0013c0016t0001	a0001c0001t0001g0033 a0001c0001t0001g0047 a0001c0001t0001g0054 others(2): Show a0001c0001t0001g0033 a0001c0001t0001g0047 a0001c0001t0001g0054 a0001c0001t0001g0088 a0013c0016t0001g0044	5	332	0.0151	-22	c.116 others(41): Show c.1165+3064_1165+3085delATATATTTTTTTTTTTTTTTTT	DLG1	ENSG00000075711.21	transcript	ENST00000667157.1	protein_coding	11/24			chr3	TogoVar
DLG1_chr3_197037560_197303612	197127443	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02647.hp1 HG02735.hp1 HG02293.hp1 HG02647.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0003g0229 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0003g0229	3	332	0.0090	-22	c.116 others(41): Show c.1165+3062_1165+3083delATATATATTTTTTTTTTTTTTT	DLG1	ENSG00000075711.21	transcript	ENST00000667157.1	protein_coding	11/24			chr3	TogoVar
DLG1_chr3_197037560_197303612	197127445	AAAAAAAA others(15): Show AAAAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG03516.hp2 HG03540.hp2 HG02897.hp1 HG03516.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0232	3	332	0.0090	-22	c.116 others(41): Show c.1165+3060_1165+3081delATATATATATTTTTTTTTTTTT	DLG1	ENSG00000075711.21	transcript	ENST00000667157.1	protein_coding	11/24			chr3	TogoVar
DLG1_chr3_197037560_197303612	197127447	AAAAAAAA others(15): Show AAAAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02809.hp1 HG03225.hp2 HG02723.hp1 HG02809.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0242 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0002g0242 a0001c0001t0003g0234 a0001c0001t0003g0235	3	332	0.0090	-22	c.116 others(41): Show c.1165+3058_1165+3079delATATATATATATTTTTTTTTTT	DLG1	ENSG00000075711.21	transcript	ENST00000667157.1	protein_coding	11/24			chr3	TogoVar
DLG1_chr3_197037560_197303612	197127449	AAAAAAAA others(15): Show AAAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02622.hp1 NA18522.hp1 HG01168.hp2 HG02622.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0003g0243 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0003g0243	3	332	0.0090	-22	c.116 others(41): Show c.1165+3056_1165+3077delATATATATATATATTTTTTTTT	DLG1	ENSG00000075711.21	transcript	ENST00000667157.1	protein_coding	11/24			chr3	TogoVar
DLG1_chr3_197037560_197303612	197127453	AAAAAATA others(15): Show AAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03540.hp1 NA18522.hp2 HG02257.hp1 HG03540.hp1 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0019 a0001c0003t0004 a0001c0003t0019	a0001c0003t0004g0211 a0001c0003t0004g0212 a0001c0003t0019g0111 a0001c0003t0004g0211 a0001c0003t0004g0212 a0001c0003t0019g0111	3	332	0.0090	-22	c.116 others(41): Show c.1165+3052_1165+3073delATATATATATATATATATTTTT	DLG1	ENSG00000075711.21	transcript	ENST00000667157.1	protein_coding	11/24			chr3	TogoVar
DLG2_chr11_83450173_85632344	83499850	GAGATATA others(15): Show GAGATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0014 a0001c0001t0010g0014	1	14	0.0714	-22	c.219 others(43): Show c.2194-15644_2194-15623delATATATATATATATATATATCT	DLG2	ENSG00000150672.19	transcript	ENST00000376104.7	protein_coding	21/27			chr11	TogoVar
DLG2_chr11_83450173_85632344	83503366	CATTTATA others(15): Show CATTTATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	14	0.0714	-22	c.219 others(43): Show c.2194-19160_2194-19139delATATATATATATATATATAAAT	DLG2	ENSG00000150672.19	transcript	ENST00000376104.7	protein_coding	21/27			chr11	TogoVar
DLG2_chr11_83450173_85632344	83601635	CCATGTAG others(15): Show CCATGTAGCTGGGACTACAGGCA	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02717.hp2 HG03471.hp2 others(1): Show HG01099.hp2 HG02717.hp2 HG03471.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010	a0001c0001t0001g0010 a0001c0001t0004g0005 a0001c0001t0006g0012 others(1): Show a0001c0001t0001g0010 a0001c0001t0004g0005 a0001c0001t0006g0012 a0001c0001t0010g0014	4	14	0.2857	-22	c.194 others(43): Show c.1940+31554_1940+31575delTGCCTGTAGTCCCAGCTACATG	DLG2	ENSG00000150672.19	transcript	ENST00000376104.7	protein_coding	19/27			chr11	TogoVar
DLG2_chr11_83450173_85632344	83668684	TATATATA others(15): Show TATATATATGTGTATATAAACAC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp2 HG01884.hp1 others(10): Show HG01099.hp1 HG01099.hp2 HG01884.hp1 HG01884.hp2 HG02559.hp1 HG02559.hp2 HG02717.hp1 HG02717.hp2 HG03471.hp1 HG03471.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0002t0009	a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 others(10): Show a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0002g0001 a0001c0001t0003g0003 a0001c0001t0004g0005 a0001c0001t0005g0011 a0001c0001t0007g0007 a0001c0001t0008g0004 a0001c0001t0010g0014 a0001c0001t0011g0013 a0001c0002t0009g0002	13	14	0.9286	-22	c.182 others(43): Show c.1826-35381_1826-35360delGTGTTTATATACACATATATAT	DLG2	ENSG00000150672.19	transcript	ENST00000376104.7	protein_coding	18/27			chr11	TogoVar
DLG2_chr11_83450173_85632344	83668796	CACACATA others(15): Show CACACATATATATGTGTATATAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0013 a0001c0001t0011g0013	1	14	0.0714	-22	c.182 others(43): Show c.1826-35493_1826-35472delTTATATACACATATATATGTGT	DLG2	ENSG00000150672.19	transcript	ENST00000376104.7	protein_coding	18/27			chr11	TogoVar

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